The IOSR Journal of Pharmacy (IOSRPHR) is an open access online & offline peer reviewed international journal, which publishes innovative research papers, reviews, mini-reviews, short communications and notes dealing with Pharmaceutical Sciences( Pharmaceutical Technology, Pharmaceutics, Biopharmaceutics, Pharmacokinetics, Pharmaceutical/Medicinal Chemistry, Computational Chemistry and Molecular Drug Design, Pharmacognosy & Phytochemistry, Pharmacology, Pharmaceutical Analysis, Pharmacy Practice, Clinical and Hospital Pharmacy, Cell Biology, Genomics and Proteomics, Pharmacogenomics, Bioinformatics and Biotechnology of Pharmaceutical Interest........more details on Aim & Scope).
All manuscripts are subject to rapid peer review. Those of high quality (not previously published and not under consideration for publication in another journal) will be published without delay.
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Abstract—Hutchinson–Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a five year old female child with clinical manifestations characteristic of this syndrome. This child had a senile look with large cranium, frontal bossing, sparse light brown hair and dilated visible veins over the scalp. Other features were prominent eyes, beaked nose, micrognathia, sclerodermatous changes in both feet and legs, laxed and atrophic skin over dorsum of both hands and mottled pigmentation over trunk. Decreased high-density lipoprotein (HDL) levels was characteristic of the syndrome. This case is reported for its rarity and uncommon relationship with hypothyroidism.
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone
Klinefelter syndrome is a genetic condition affecting males, and it often isn't diagnosed until adulthood. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to lower production of testosterone.
Abstract—Hutchinson–Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a five year old female child with clinical manifestations characteristic of this syndrome. This child had a senile look with large cranium, frontal bossing, sparse light brown hair and dilated visible veins over the scalp. Other features were prominent eyes, beaked nose, micrognathia, sclerodermatous changes in both feet and legs, laxed and atrophic skin over dorsum of both hands and mottled pigmentation over trunk. Decreased high-density lipoprotein (HDL) levels was characteristic of the syndrome. This case is reported for its rarity and uncommon relationship with hypothyroidism.
Fetal alcohol spectrum disorders: an overview from the glia perspectiveBARRY STANLEY 2 fasd
Abstract
Alcohol consumption during pregnancy can produce a variety of central nervous system (CNS) abnormalities in the offspring resulting in a broad spectrum of cognitive and behavioral impairments that constitute the most severe and long-lasting effects observed in fetal alcohol spectrum disorders (FASD). Alcohol-induced abnormalities in glial cells have been suspected of contributing to the adverse effects of alcohol on the developing brain for several years, although much research still needs to be done to causally link the effects of alcohol on specific brain structures and behavior to alterations in glial cell development and function. Damage to radial glia due to prenatal alcohol exposure may underlie observations of abnormal neuronal and glial migration in humans with Fetal Alcohol Syndrome (FAS), as well as primate and rodent models of FAS. A reduction in cell number and altered
development has been reported for several glial cell types in animal models of FAS. In utero alcohol exposure can cause microencephaly when alcohol exposure occurs during the brain growth spurt a period characterized by rapid astrocyte proliferation and maturation; since astrocytes are the most abundant cells in the brain, microenchephaly may be caused by reduced astrocyte proliferation or survival, as observed in in vitro and in vivo studies. Delayed oligodendrocyte development and increased oligodendrocyte precursor apoptosis has also been reported in experimental models of FASD,
which may be linked to altered myelination/white matter integrity found in FASD children. Children with FAS exhibit hypoplasia of the corpus callosum and anterior commissure, two areas requiring guidance from glial cells and proper maturation of oligodendrocytes. Finally, developmental alcohol exposure disrupts microglial function and induces microglial apoptosis; given the role of microglia in synaptic pruning during brain development, the effects of alcohol on microglia may be involved in the abnormal brain plasticity reported in FASD. The consequences of prenatal alcohol exposure on glial
cells, including radial glia and other transient glial structures present in the developing brain, astrocytes, oligodendrocytes and their precursors, and microglia contributes to abnormal neuronal development, reduced neuron survival and disrupted brain architecture and connectivity. This review highlights the CNS structural abnormalities caused by in utero alcohol exposure and outlines which abnormalities are likely mediated by alcohol effects on glial cell development and function.
Keywords: astrocyte, microglia, oligodendrocyte, fetal alcohol syndrome, fetal alcohol spectrum disorder.
Fragile X syndrome causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms.
Symptoms include delays in talking, anxiety and hyperactive behaviour. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead and flat feet.
Therapy can be used to treat learning disabilities. Medication may be used to treat anxiety and mood disorders.
Fragile X associated primary ovarian insufficiency
Fragile X associated decreased ovarian reserve
Fragile X syndrome and reproduction
evidence based
Dr.Anu.M - Mch Resident - Department of Reproductive Medicine and Surgery
“Hemodynamic and recovery profile with Dexmedetomidine and Fentanyl in intrac...iosrphr_editor
The IOSR Journal of Pharmacy (IOSRPHR) is an open access online & offline peer reviewed international journal, which publishes innovative research papers, reviews, mini-reviews, short communications and notes dealing with Pharmaceutical Sciences( Pharmaceutical Technology, Pharmaceutics, Biopharmaceutics, Pharmacokinetics, Pharmaceutical/Medicinal Chemistry, Computational Chemistry and Molecular Drug Design, Pharmacognosy & Phytochemistry, Pharmacology, Pharmaceutical Analysis, Pharmacy Practice, Clinical and Hospital Pharmacy, Cell Biology, Genomics and Proteomics, Pharmacogenomics, Bioinformatics and Biotechnology of Pharmaceutical Interest........more details on Aim & Scope).
Analytical Study of Urine Samples for Epidemiology of Urinary Tract Infection...iosrphr_editor
The current study was carried out in District Abbottabad aimed to determine the common urinary
tract infections in local community to determine the epidemiology of significant diseases in asymptomatic patients
of renal disorder. In this study a total of 1000 urine samples were examined during 3rd February to 1st April 2015
from patients attending Ayub Teaching Hospital Abbottabad by using dipstick and microscopic analysis of urine.
There were 638 females and 362 males patients examined during this period. The range of age groups is between
1.5 years to 80 years. Results of this study was reported as Pyuria 11%, Proteinuria 21.1%, Hematuria 10.4%,
Epithelial Cells 8.2%, pH 7.8 %, Granular casts 7.3%, Triple phosphate 6.6%, Calcium oxalate 6.4%, Glycosuria
6.3%, Bacteria 6.2% and mucous 4.1%. This study concludes that routing urinalysis should be performed for all
individuals to diagnose the asymptomatic diseases that will help in simple therapeutic measurements as urinalysis
is a simple step to determine the root of Urinary tract disorders.
Fetal alcohol spectrum disorders: an overview from the glia perspectiveBARRY STANLEY 2 fasd
Abstract
Alcohol consumption during pregnancy can produce a variety of central nervous system (CNS) abnormalities in the offspring resulting in a broad spectrum of cognitive and behavioral impairments that constitute the most severe and long-lasting effects observed in fetal alcohol spectrum disorders (FASD). Alcohol-induced abnormalities in glial cells have been suspected of contributing to the adverse effects of alcohol on the developing brain for several years, although much research still needs to be done to causally link the effects of alcohol on specific brain structures and behavior to alterations in glial cell development and function. Damage to radial glia due to prenatal alcohol exposure may underlie observations of abnormal neuronal and glial migration in humans with Fetal Alcohol Syndrome (FAS), as well as primate and rodent models of FAS. A reduction in cell number and altered
development has been reported for several glial cell types in animal models of FAS. In utero alcohol exposure can cause microencephaly when alcohol exposure occurs during the brain growth spurt a period characterized by rapid astrocyte proliferation and maturation; since astrocytes are the most abundant cells in the brain, microenchephaly may be caused by reduced astrocyte proliferation or survival, as observed in in vitro and in vivo studies. Delayed oligodendrocyte development and increased oligodendrocyte precursor apoptosis has also been reported in experimental models of FASD,
which may be linked to altered myelination/white matter integrity found in FASD children. Children with FAS exhibit hypoplasia of the corpus callosum and anterior commissure, two areas requiring guidance from glial cells and proper maturation of oligodendrocytes. Finally, developmental alcohol exposure disrupts microglial function and induces microglial apoptosis; given the role of microglia in synaptic pruning during brain development, the effects of alcohol on microglia may be involved in the abnormal brain plasticity reported in FASD. The consequences of prenatal alcohol exposure on glial
cells, including radial glia and other transient glial structures present in the developing brain, astrocytes, oligodendrocytes and their precursors, and microglia contributes to abnormal neuronal development, reduced neuron survival and disrupted brain architecture and connectivity. This review highlights the CNS structural abnormalities caused by in utero alcohol exposure and outlines which abnormalities are likely mediated by alcohol effects on glial cell development and function.
Keywords: astrocyte, microglia, oligodendrocyte, fetal alcohol syndrome, fetal alcohol spectrum disorder.
Fragile X syndrome causes mild to severe intellectual disability. It affects both males and females, but females usually have milder symptoms.
Symptoms include delays in talking, anxiety and hyperactive behaviour. Some people have seizures. Physical features might include large ears, a long face, a prominent jaw and forehead and flat feet.
Therapy can be used to treat learning disabilities. Medication may be used to treat anxiety and mood disorders.
Fragile X associated primary ovarian insufficiency
Fragile X associated decreased ovarian reserve
Fragile X syndrome and reproduction
evidence based
Dr.Anu.M - Mch Resident - Department of Reproductive Medicine and Surgery
“Hemodynamic and recovery profile with Dexmedetomidine and Fentanyl in intrac...iosrphr_editor
The IOSR Journal of Pharmacy (IOSRPHR) is an open access online & offline peer reviewed international journal, which publishes innovative research papers, reviews, mini-reviews, short communications and notes dealing with Pharmaceutical Sciences( Pharmaceutical Technology, Pharmaceutics, Biopharmaceutics, Pharmacokinetics, Pharmaceutical/Medicinal Chemistry, Computational Chemistry and Molecular Drug Design, Pharmacognosy & Phytochemistry, Pharmacology, Pharmaceutical Analysis, Pharmacy Practice, Clinical and Hospital Pharmacy, Cell Biology, Genomics and Proteomics, Pharmacogenomics, Bioinformatics and Biotechnology of Pharmaceutical Interest........more details on Aim & Scope).
Analytical Study of Urine Samples for Epidemiology of Urinary Tract Infection...iosrphr_editor
The current study was carried out in District Abbottabad aimed to determine the common urinary
tract infections in local community to determine the epidemiology of significant diseases in asymptomatic patients
of renal disorder. In this study a total of 1000 urine samples were examined during 3rd February to 1st April 2015
from patients attending Ayub Teaching Hospital Abbottabad by using dipstick and microscopic analysis of urine.
There were 638 females and 362 males patients examined during this period. The range of age groups is between
1.5 years to 80 years. Results of this study was reported as Pyuria 11%, Proteinuria 21.1%, Hematuria 10.4%,
Epithelial Cells 8.2%, pH 7.8 %, Granular casts 7.3%, Triple phosphate 6.6%, Calcium oxalate 6.4%, Glycosuria
6.3%, Bacteria 6.2% and mucous 4.1%. This study concludes that routing urinalysis should be performed for all
individuals to diagnose the asymptomatic diseases that will help in simple therapeutic measurements as urinalysis
is a simple step to determine the root of Urinary tract disorders.
Chest sonography images in neonatal r.d.s. And proposed gradingiosrphr_editor
BACKGROUND : Lung sonography has been used to monitor the patients of R.D.S. in
N.I.C.U. in recent times.
AIMS : To Describe and Grade the changes of R.D.S. by lung sonography.
SETTING & DESIGN : Tertiary care institutional set up in a rural medical college.
STUDY DURATION : September 2014 to May 2015. Follow-up variable, upto 2 weeks.
PROSPECTIVE, ANALYTICAL STUDY.
MATERIALS AND METHODS -This was a single institute study approved by the institutional ethics
committee. Prior informed consent was obtained from the parents. 100 consecutive patients admitted in
N.I.C.U. WITH gestational age < 36 weeks with respiratory complaints were enrolled. Chest x-ray was
obtained within few hours of admission and lung sonography was performed within 24 hours. Follow – up
sonography was performed as and when necessary. Sonography image was graded and correlated with chest
xray and clinical picture
Correlation of Estrogen and Progesterone Receptor expression in Breast Canceriosrphr_editor
The IOSR Journal of Pharmacy (IOSRPHR) is an open access online & offline peer reviewed international journal, which publishes innovative research papers, reviews, mini-reviews, short communications and notes dealing with Pharmaceutical Sciences( Pharmaceutical Technology, Pharmaceutics, Biopharmaceutics, Pharmacokinetics, Pharmaceutical/Medicinal Chemistry, Computational Chemistry and Molecular Drug Design, Pharmacognosy & Phytochemistry, Pharmacology, Pharmaceutical Analysis, Pharmacy Practice, Clinical and Hospital Pharmacy, Cell Biology, Genomics and Proteomics, Pharmacogenomics, Bioinformatics and Biotechnology of Pharmaceutical Interest........more details on Aim & Scope).
Congenital Agenesis Of The Corpus Callosum With Intracerebral Lipoma And Fron...iosrphr_editor
The IOSR Journal of Pharmacy (IOSRPHR) is an open access online & offline peer reviewed international journal, which publishes innovative research papers, reviews, mini-reviews, short communications and notes dealing with Pharmaceutical Sciences( Pharmaceutical Technology, Pharmaceutics, Biopharmaceutics, Pharmacokinetics, Pharmaceutical/Medicinal Chemistry, Computational Chemistry and Molecular Drug Design, Pharmacognosy & Phytochemistry, Pharmacology, Pharmaceutical Analysis, Pharmacy Practice, Clinical and Hospital Pharmacy, Cell Biology, Genomics and Proteomics, Pharmacogenomics, Bioinformatics and Biotechnology of Pharmaceutical Interest........more details on Aim & Scope).
This presentation contains detailed knowledge about Down's Syndrome its types, clinical presentation, diagnosis, medical and physio therapeutic management of the condition.
Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.
Prof. Dr. Vladimir Trajkovski-Etiology and pathogenesis of ASDVladimir Trajkovski
These are slides from webinar which Prof. Dr. Vladimir Trajkovski held for colleagues from India. The title of lecture is Etiology and pathogenesis of autism spectrum disorders. Webionar was on YouTube channel in live od 23.05.2018.
SÍNDROME DE ROBINOW: CONSIDERAÇÕES MÉDICAS E ODONTOLÓGICAS PARA GESTÃO ABRANG...Cristhiane Amaral
SÍNDROME DE ROBINOW: CONSIDERAÇÕES MÉDICAS E ODONTOLÓGICAS PARA
GESTÃO ABRANGENTE DO PACIENTE
Cristhiane Olivia Ferreira do Amaral*1, Davi de Alencar Gonçalves2, Luís Augusto Rossi Nery2,
Vinicius Carvalho Rodrigues2, Mariana Olívia Ferreira do Amaral3, Eliane Cristina Gava Pizi4
and Fabiana Gouveia Straioto4
Objetivo: A Síndrome de West (WS) é caracterizada pela tríade de espasmos infantis,
hipsarritmia e prejuízo cognitivo. A etiologia está ligada a distúrbios cerebrais orgânicos
cujas origens podem ser pré-natais, pós-natais ou perinatais. O objetivo deste estudo é ajudar
identificar alterações sistêmicas, considerações médicas, aspectos estomatológicos e, adicionalmente, relatar
dois casos de pacientes com síndrome de West. Relato de Caso: Os aspectos estomatológicos encontrados em
ambos os pacientes eram o desgaste geral dos dentes, devido ao apertamento dentário e bruxismo, gengival
crescimento, sequência e cronologia das erupções dentárias alteradas, palato profundo e atresia, apresentados
falta de fechamento labial, lábios superiores e inferiores, bochechas e língua com tônus muscular flácido e
má oclusão. Em um paciente, múltiplas lesões de cárie também foram observadas, possivelmente associadas a
o comportamento da família, a alimentação, a higiene bucal e o uso contínuo de medicamentos, com a
presença de biofilme espesso, lesões de cárie estacionárias mostrando uso cariostático, o que impediu
abordagem odontológica colaborativa. Conclusão: A abordagem para atendimento e tratamento odontológico são
discutido. Pacientes com Síndrome de West têm uma grande diversidade de aspectos físicos gerais e orais
características, dificuldade na higiene oral devido ao atraso no desenvolvimento neuropsicomotor. Isto é
importante prestar cuidados precoces, para que não necessitem de tratamentos complexos e invasivos devido a
comprometimento sistêmico e cognitivo. A abordagem abrangente e o tratamento devem ser realizados
por uma equipe multidisciplinar.
20150918 E. Pompilii - Microarray in diagnosi prenatale: la complessità della...Roberto Scarafia
Eva Pompilii, MD
Genetic Counselor , TOMA Advanced Biomedical Assays, S.p.A.,
Gynepro Medical Bologna, Policlinico S.Orsola Malpighi Bologna
• OBJECTIVES:
At present, a precise guideline establishing chromosome microarray analysis (CMA) applications and platforms in the prenatal setting does not exist. The actual controversial
question is whether CMA technologies can or should shortly replace the standard karyotype in prenatal diagnosis practice
• CONCLUSIONS:
Presently CMA analysis can be considered a second-tier diagnostic test to be used after a standard karyotype in selected group of pregnancies, such as those with single
(apparently isolated) or multiple US fetal abnormalities, with de novo chromosomal rearrangements, even if apparently balanced, and those with supernumerary markers chromosomes
The Comprehensive Review on Fat Soluble Vitaminsiosrphr_editor
This review article deals with brief description of fat soluble vitamins with figures and tables
showing statistical analytical data duly quoting the references wherever necessary. The word “soluble” actually
means “able to be dissolved.” Whether a vitamin is classified as 'fat-soluble' or 'water-soluble' has to do with
how the vitamin is absorbed, stored and removed from the body. Vitamins are tiny organic compounds with a
huge impact on the health and well-being of the body. The body needs a small amount of fat soluble vitamins in
order to stay in optimal health. Fat soluble vitamins play an important role in keeping the body healthy and
functioning from immune system and muscle and heart function, easy flow and clotting of blood as well as eye
health. They are critical to health and wellness–particularly reproductive health and wellness. Low-fat, no-fat
and vegan diets are woefully lacking in fat soluble vitamins. However a diet based on traditional foods can
naturally provide these vitamins. Science is still learning about many of the functions of vitamins. "Too much
vitamin A, D, or K can lead to increased levels that are unhealthy and can cause serious health consequences.
Diseased conditions leading to decreased fat absorption leads to decreased absorption of vitamins. The fatsoluble
vitamins work most safely and effectively when obtained them from natural foods within the context of a
diet rich in all their synergistic partners. If fat soluble vitamins are stored for lengthy time they generate threat
for toxicity than water soluble vitamins and such situation even aggravated, provided they are consumed in
excess. Vitamin products, above the legal limits are not considered food supplements and must be registered as
prescription or non-prescription (over-the-counter drugs) due to their potential side effects. Vitamin A and E
supplements do not provide health benefits for healthy individuals, instead they may enhance mortality, and it is
held proved that beta-carotene supplements can be harmful to smokers
Sulphasalazine Induced Toxic Epidermal Necrolysis A Case Reportiosrphr_editor
Toxic Epidermal Necrolysis (TEN) is a rare and life threatening mucocutaneous reaction
characterized by extensive necrosis and detachment of epidermis. The Worldwide incidence of TEN is 0.9 to 1.4
per million populations per year [1]. Here we have discussed a case of Toxic Epidermal Necrolysis secondary
to Sulfasalazine managed with fluid replacement, analgesics, anti-infective therapy aggressive nutritional
support and intravenous high dose steroid therapy.
Keywords- Toxic Epidermal Necrolysis, Sulfasalazine
Evaluation the efficacy of IVIgG in treatment of Hemolytic Disease of Newborniosrphr_editor
Hemolytic disease of newborn (HDN) is an important cause of hyperbilirubinemia in the
neonatal period,and delayed diagnosis and treatment may lead to permanent brain damage. Traditional
neonatal treatment of HDN is intensive phototherapy and exchange transfusion.Intravenous
immunoglobulin(IVIgG) has been introduced as an alternative therapy to exchange transfusion. This study was
conducted to assess the effect of IVIG in HDN .
FIBROLIPOMATOUS HAMARTOMA OF ULNAR NERVE: A RARE CASE REPORT.iosrphr_editor
Nervous fibrolipomatous hamartoma is said to be a rare tumor-like condition involving the peripheral
nerves,in which the epineurium and perineurium are enlarged and distorted by excess of fatty and fibrous tissue
s that infiltrate between and around nerve boundaries. The median nerve is more likely to develop a hamartoma
than other nerves with a predilection for the carpal tunnel.
A fibrolipomatous hamartoma – is a rare, benign, congenital lesion most commonly found in the median nerve,
usually at the level of the wrist or hand.
We report a case of this rare condition in ulnar nerve.
SELF MEDICATION PRACTICES FOR ORAL HEALTH PROBLEMS AMONG DENTAL PATIENTS IN B...iosrphr_editor
Introduction: Self‑ medication is commonly practiced all over the world. Self-medication is defined as the use
of medication by a patient on his own initiative or on the advice of a pharmacist or a lay person instead of
consulting a medical practitioner. The present study was aimed to estimate the prevalence of self-medication for
oral health problems among dental patients in Bengaluru city; to identify triggering factors that could influence
self-medication practices; to identify sources of medications used; to identify sources of information about
medications used; and to identify reasons for self-medication.Study Design: A Cross sectional Study.Methods:A
survey was conducted among 175 subjects among dental patients in Bengaluru city. Data were collected
through a specially designed proforma using a closed‑ ended, self‑ administered questionnaire containing 15
questions, in five sections.
Results: The prevalence of
Clinico-haematological Profile of Falciparum Malaria in a Rural Hospital of T...iosrphr_editor
Aim: To study the clinico-haematological profile malaria in a rural hospital of Tripura.
Material and methods: A cross-sectional hospital-based study was done from at Kulai District
Hospital,Tripura. This hospital based cross sectional study was done on 60 confirmed cases of falciparum
malaria (either by peripheral smear or rapid diagnostic test) admitted in Kulai District Hospital. A case sheet
proforma was prepared and data (demographic profile,clinical feature, investigation, treatment, and
complication) from all indoor patients was collected and analyzed.
Result: Out of 60 patients, 40(66.6%) were males and 20 (33.4%) were females. Most of the patients were
between the age group 21-40 years with the highest prevalence between the age group of 21-30. Fever was the
most common symptom. Anemia was present in 42(70%) patients, out of which 6(10%) patients had severe
anemia. Thrombocytopenia was present in 36(60%) patients.Abnormal liver function tests were observed in
26(43.3%) subjects while abnormal kidney function tests were observed in16(26.6%) patients. All the 60
patients received Artemisinin based antimalarial drugs.
Conclusion: Early detection, prompt management, and adequate supportive therapy may reduce mortality due
to falciparum cerebral malaria.
Indonesian Wild Ginger (Zingiber sp) Extract: Antibacterial Activity against ...iosrphr_editor
Lempuyang gajah (Zingiber zerumbet (L.) Smith), lempuyang pahit (Zingiber amaricans BL.), and
lempuyang wangi (Zingiber aromaticum Vahl.) are used as traditional medicine (jamu) in Indonesia. It is also
used for treatment of microbial infections, helps to increase appetite and stimulate digestion in chickens.
Information on their uses are available, but only limited in the scientific data on their bioactivity. The study was
conducted on the antibacterial effect of organic extracts of these plants with Mycoplasma gallisepticum as the
agent of chronic respiratory disease in chickens. Juice and extracts of fresh and dried rhizome are evaluated
through the disc diffusion assay and minimum inhibitory concentration. Oxytetracyclin (30 µg) are used as
standards. All extracts are individually exhibited as antibacterial activity against Mycoplasma gallisepticum (7
± 0.11 mm to 21 ± 0.86 mm). The minimum inhibitory concentration (MIC) determination of plants extracts are
ranged from 7.8 mg/ml to 31.2 mg/ml. The preliminary results suggested promising antibacterial properties of
wild ginger from Indonesia, and probably could be used in management of chronic respiratory disease in
chickens.
A case of allergy and food sensitivity: the nasunin, natural color of eggplantiosrphr_editor
Abstract: Allergies and food sensitivities can both be considered as "adverse reactions individualistic" to food.
Are pathological and individual forms because they affect a few individuals in way rather serious; immediate
or delayed reactions occur instead with simple effects histamine, or, in severe cases with respiratory and
anaphylactic shock
The eggplant (Solanum melongena L.) is known to cause food allergies in some Asian countries, but detailed
studies on allergies caused by eggplant are lacking, however, it was highlighted the presence of allergens in
edible parts of eggplant with preponderance in the peel .
The purpose of this study was to propose an extraction method rapid, efficient and cost of natural dye from
waste products from the food industry, such as the peels of eggplant, from which it was extracted, isolated and
purified the nasunin,a colored molecule in red-fuchsia.
Nasusin was tested on 58 patients to evaluate the potential sensitizing effect on the skin. The results demonstrate
that allergenic effects are negligible and therefore the nasunin can be used as a colorant in various industrial
sectors with a certain safety margin
Complete NMR Assignment of MogrosidesII A2, II E andIII A1Isolated from Luo H...iosrphr_editor
NMR analysis allowed complete assignments of three known mogrol glycosides, Mogroside IIA2 (1),
II E (2)and IIIA1 (3), isolated from the extracts of Luo Han Guo. Herein, complete 1H and 13C NMR
assignmentsof all threemogrosidesare described based on NMR experiments (1H NMR, 13C NMR, COSY,
HSQC-DEPT, HMBC, NOESY and 1DTOCSY) and mass spectral data.
Nanoemulsion and Nanoemulgel as a Topical Formulationiosrphr_editor
: Nanoemulsion is referred type of emulsion with uniform and extremely small droplet size in the range
of 20-200 nm. Nanoemulsion provides numerous advantages over other carrier such as polymeric nanoparticle
and liposomes, including low cost preparation procedure, high hydrophilic and lipophilic drug loading system
to enhance the longer shelf live upon preserving the therapeutic agents. Incorporating the preparation of
nanoemulsion with hydrogel matrix to produce nanoemulgel exhibited by the two separate systems that forming
it. Nanoemulgel possesses the properties of thixotropic, non-greasy, effortlessly spreadable, easily be removed,
emollient, not staining, soluble in water, longer shelf life, bio-friendly, translucent and agreeable appearance.
Pharmacokinetics of High-Dose Methotrexate in Egyptian Children with Acute Ly...iosrphr_editor
Aim:Since several factors have been shown to influence the clearance of methotrexate, the purpose of this study
was to identify potential relationships between patient covariates and the methotrexate clearance estimates and
deduce a pharmacokinetic model for the estimation of methotrexate clearance in Egyptian pediatric ALL
patients that may help dosage adjustment and achieve target steady-state plasma concentrations in a similar
sittings.
Patients and methods: A total of 94 pediatric patients with B-cell ALL, of whom 70 were the studied population
and 24 were the test population, were treated with four courses of HDMTX doses 2.5 gm/m2
(low-risk arm) or 5
gm/m2
(standard-/high-risk arm) given every other week by intermittent intravenous infusions over 24 hours as
a part of their treatment protocol. Patients were monitored for the 24 hour MTX concentration and the systemic
methotrexate clearance was calculated for each methotrexate dose
Epidemiology of Tuberculosis (TB) in Albania 1998-2009iosrphr_editor
Abstract : In Albania, many people erroneously think that tuberculosis (TB) is a disease of the past-an illness
that no longer constitutes a public health threat. Surveillance is an integral part of tuberculosis (TB) control.
Albania has a highTB notification rate and there are doubts about underreporting. The evolution of the
incidence of tuberculosis is presented, together with more detailed figures over the period 1998-2009. These
figures were obtained by the monthly forms (called 14/Sh) compared with the individual notification data.
Objective: To examine the distribution and sources of increased tuberculosis (TB) morbidity and reporting
system deficiencies in the Albania from 1998 through 2009. Metodology: The study is descriptive one conductet
during the period 1998-2009. The statistical analysis is based on data reported from regional level (regional
epidemiological departments) to the central level (Public Health Institute). Results: The main findings were:
discordance between the collected data (individual form) and reported data (monthly form); tuberculosis
incidence rate shows little oscillations which ranges from 6.67 to 9.2 cases/100.000 population; 50% of the
regions show a lack of information on the confirmation of diagnosis and laboratory examination type used for
confirmation. Conclusion: TB disease in high-risk populations where it is difficult to detect, diagnose, and treat;
limitations of current control measures and the need for new tests and treatments, including an effective
vaccine; improving information system, regulation of individual form and personnel training.
Total Phenol and Antioxidant from Seed and Peel of Ripe and Unripe of Indones...iosrphr_editor
Study on total phenol and antioxidantactivity ofsugar apple fruits of various solvent, part of fruits, and level of ripening. Solvent extraction used were 80% (v/v) methanol, 50% (v/v) acetone, boiling water, and 50% (v/v) ethanol. Part of fruits thatbeen used for samples were seed and peel which are normally by products of sugar apple processing, level of ripening were unripe, and ripe sugar apple fruits. Total phenol was determined by Folin-ciocalteau method. Total antioxidant was quantified by 1,1-diphenyl-2-picrylhydrazyl(DPPH) method.Therewas a difference in type of solvent, part of fruits, and level of ripeningon total phenol and antioxidant concentration of sugar apple fruits. Seeds have higher total phenol concentration than peels of this fruits. Unripe sugar apple fruits have higher total phenol and antioxidant than ripe fruit. The best solvent for phenol extraction was ethanol 50%butthe best solvent for antioxidant extraction was acetone 50%.
A Review on Step-by-Step Analytical Method Validationiosrphr_editor
When analytical method is utilized to generate results about the characteristics of drug related samples it is essential that the results are trustworthy. They may be utilized as the basis for decisions relating to administering the drug to patients. Analytical method validation required during drug development and manufacturing and these analytical methods are fit for their intended purpose. To comply with the requirements of GMP pharmaceutical industries should have an overall validation policy which documents how validation will be performed. The purpose of this validation is to show that processes involved in the development and manufacture of drug, production and analytical testing can be performed in an effective and reproducible manner. This review article provides guidance on how to perform validation characteristics for the analytical method which are utilized in pharmaceutical analysis.
A Cross Sectional Study of Ethnic Differences in Occurrence and Severity of A...iosrphr_editor
Non-steroidal anti-inflammatory drugs are the most widely used "over the counter" medication all over the world despite their complications in different major organs. Present studies envisaged for knowing the occurrence and severity of adverse drug reactions from NSAIDs in different ethnic communities of Sikkim. A cross sectional study was undertaken in the medicine outpatients department of a secondary and tertiary care hospital. The patients belonging to Nepalese, Bhutias, Lepchas ethnic communities and others community (settlers from other parts of India) were included to analyzed the data based on the age and gender, ethnicity and ADRs, drugs and ADRs. Severity assessment was done using Hartwing and Siegel scale and causality assessment by Naranjo scale. Total 109 cases of ADRs, predominating in female were detected. Nepalese were the most affected and Gastrointestinal tract (GIT) being the most affected organ in them. Diclofenac showed maximum number of ADRs in all the communities. Maximum number of cases occurred on single day use (40.36%) of drugs. All the cases were belonging to the "possible category" and the maximum being the mild (72.48%) in nature. It is advisable to consider the ethnic/racial differences equally with other factors, to improve the safety and efficacy of a drug.
Hematological and biochemical alterations in malaria and their correlation wi...iosrphr_editor
Malaria is a major health problem in India with 1.04 million cases reported in 2012 leading to 504 deaths. The clinical spectrum depends on the infecting species, level of parasitemia and the immune status of the host. Malaria pathogenesis is based on extensive changes in hematological and biochemical parameters. The objective of this study was to study the clinical features, hematological and biochemical parameters in malaria patients and correlate them with the parasitic index (PI). Material and methods: We conducted a study on 300 malaria patients. The frequency of various symptoms and signs of malaria caused by various plasmodium species were determined. The degree of anemia, WBC count, platelet count serum bilirubin, liver enzymes and serum creatinine levels were studied and their variation depending on the parasitic index was documented. Results: 197 patients had vivax malaria, 76 patients had falciparum malaria and 27 patients had mixed infection. 171 patients had a PI of less than 2%, 100 patients had PI between 2 to 5%, 23 patients had PI between 5 to 10% and only 6 patients had PI of more than 10%. 72.3% of patients had thrombocytopenia, 46.66% had anaemia, 25% had increased bilirubin 29.66% showed increased liver enzymes and 7.66% had increased creatinine levels. Conclusion: There was a correlation between degree of parasitemia and severity of malaria in majority of cases. Derangements in hematological and biochemical parameters were more frequently seen in patients with higher PI. Hence PI can be used as an indicator by the clinician to know the severity of infection and plan appropriate treatment.
Treatment of Uthiravatha Suronitham (Rheumatoid Arthritis) with a Siddha Comp...iosrphr_editor
Uthiravathasuronitham, a vatha disease described by Sage Yugi can be correlated to Rheumatoid arthritis. A 53 year old lady diagnosed as Uthiravathasuronitham was treated with Siddha medicines Karpoora Chindhamani Mathirai and MannennaiKalavaiThylam. A single case study of Uthiravathasuronitham is detailed in this article.The patient presented with pain and swelling in minor joints of hand, wrist, ankle, shoulder joints and morning stiffness. The RA factor, CRP was positive at the time of enrollment. She was admitted in the IPD of Sirappu Maruthuvam Department of National Institute of Siddha for 45 days. The treatment outcome was encouraging. Hence further clinical studies can be carried out.
An analysis of the incidence and causes of road traffic accident in Kisii, Ce...iosrphr_editor
Background: Road traffic accidents (RTAs) are an emerging public health problem. It is estimated that more than 5 million people between 17-40 years of age die annually as a result of RTAs worldwide. Currently, RTA is the tenth leading cause of disease burden in the developing countries, especially in the Sub-Saharan African countries. The objective of the study was to analyze the proportion of accidents by vehicle, as well as investigate group of people vulnerable to RTA.
D-002 treatment attenuates esophagitis in a model of chronic gastro-esophagea...iosrphr_editor
To investigate the effects of D-002 (beeswax alcohols) on esophagitis induced by chronic gastroesophageal reflux (c-GER) in rats. Rats were randomized into a sham and five groups subjected to c-GER: a positive vehicle control, three D-002 (50, 100 and 200 mg/kg), and one omeprazole (20 mg/kg) group, all treated orally for seven days. cGER was induced by ligation of the junction between the forestomach and the duodenal side of the pylorus. Esophageal lesions index (ELI), esophageal malondialdehyde (MDA) and sulfhydril groups (SHG) concentrations were assessed. The positive control group exhibited macroscopically signs of esophageal injury assessed in term of ELI, which was significantly higher than in the negative control. D-002 (50, 100 and 200 mg/kg) reduced the ELI, showing 30.5, 72.9 and 76.4% protection, respectively; and also significantly attenuated the increased MDA (37.4, 63.6 and 94.2%, respectively) and SHG (16.6, 41.6 and 72.9%, respectively) esophageal concentrations versus the positive control. Omeprazole decreased the ELI (80.2%), MDA (99.3%) and SH (85.4%) esophageal concentrations. As conclusions, this study suggest that repeated oral administration with D-002 protects against reflux esophagitis and decreases esophageal lipid peroxidation and protein oxidation markers in rats with c-GER.
Reducing Uveitic Glaucoma: therapeutic judgement is the keyiosrphr_editor
Abstract: Background: Uveitic glaucoma (UG) due to disease and /or therapeutics is an important reason for reduced vision. Different therapeutic regimen employed in uveitis can alter the course of UG. Purpose: Evaluation of prevalence of UG with different commonly used therapy. Study design: Randomised prospective hospital based study Study Period: 2007-2012 Methods: Baseline IOP; Field and optic nerve head photographs were recorded. Three groups were randomised: 1.topical steroid 2.Systemic steroid +gr 1, 3.Topical synthetic steroids, cycloplegic and periorbital triamcinolone injection. Outcome measure: IOP more than 22 mm/4 mm increase from baseline is marker.
The prostate is an exocrine gland of the male mammalian reproductive system
It is a walnut-sized gland that forms part of the male reproductive system and is located in front of the rectum and just below the urinary bladder
Function is to store and secrete a clear, slightly alkaline fluid that constitutes 10-30% of the volume of the seminal fluid that along with the spermatozoa, constitutes semen
A healthy human prostate measures (4cm-vertical, by 3cm-horizontal, 2cm ant-post ).
It surrounds the urethra just below the urinary bladder. It has anterior, median, posterior and two lateral lobes
It’s work is regulated by androgens which are responsible for male sex characteristics
Generalised disease of the prostate due to hormonal derangement which leads to non malignant enlargement of the gland (increase in the number of epithelial cells and stromal tissue)to cause compression of the urethra leading to symptoms (LUTS
Knee anatomy and clinical tests 2024.pdfvimalpl1234
This includes all relevant anatomy and clinical tests compiled from standard textbooks, Campbell,netter etc..It is comprehensive and best suited for orthopaedicians and orthopaedic residents.
Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
Ethanol (CH3CH2OH), or beverage alcohol, is a two-carbon alcohol
that is rapidly distributed in the body and brain. Ethanol alters many
neurochemical systems and has rewarding and addictive properties. It
is the oldest recreational drug and likely contributes to more morbidity,
mortality, and public health costs than all illicit drugs combined. The
5th edition of the Diagnostic and Statistical Manual of Mental Disorders
(DSM-5) integrates alcohol abuse and alcohol dependence into a single
disorder called alcohol use disorder (AUD), with mild, moderate,
and severe subclassifications (American Psychiatric Association, 2013).
In the DSM-5, all types of substance abuse and dependence have been
combined into a single substance use disorder (SUD) on a continuum
from mild to severe. A diagnosis of AUD requires that at least two of
the 11 DSM-5 behaviors be present within a 12-month period (mild
AUD: 2–3 criteria; moderate AUD: 4–5 criteria; severe AUD: 6–11 criteria).
The four main behavioral effects of AUD are impaired control over
drinking, negative social consequences, risky use, and altered physiological
effects (tolerance, withdrawal). This chapter presents an overview
of the prevalence and harmful consequences of AUD in the U.S.,
the systemic nature of the disease, neurocircuitry and stages of AUD,
comorbidities, fetal alcohol spectrum disorders, genetic risk factors, and
pharmacotherapies for AUD.
These lecture slides, by Dr Sidra Arshad, offer a quick overview of physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Acute scrotum is a general term referring to an emergency condition affecting the contents or the wall of the scrotum.
There are a number of conditions that present acutely, predominantly with pain and/or swelling
A careful and detailed history and examination, and in some cases, investigations allow differentiation between these diagnoses. A prompt diagnosis is essential as the patient may require urgent surgical intervention
Testicular torsion refers to twisting of the spermatic cord, causing ischaemia of the testicle.
Testicular torsion results from inadequate fixation of the testis to the tunica vaginalis producing ischemia from reduced arterial inflow and venous outflow obstruction.
The prevalence of testicular torsion in adult patients hospitalized with acute scrotal pain is approximately 25 to 50 percent
New Drug Discovery and Development .....NEHA GUPTA
The "New Drug Discovery and Development" process involves the identification, design, testing, and manufacturing of novel pharmaceutical compounds with the aim of introducing new and improved treatments for various medical conditions. This comprehensive endeavor encompasses various stages, including target identification, preclinical studies, clinical trials, regulatory approval, and post-market surveillance. It involves multidisciplinary collaboration among scientists, researchers, clinicians, regulatory experts, and pharmaceutical companies to bring innovative therapies to market and address unmet medical needs.
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...VarunMahajani
Disruption of blood supply to lung alveoli due to blockage of one or more pulmonary blood vessels is called as Pulmonary thromboembolism. In this presentation we will discuss its causes, types and its management in depth.
Pulmonary Thromboembolism - etilogy, types, medical- Surgical and nursing man...
IOSR Journal of Pharmacy (IOSRPHR)
1. IOSR Journal Of Pharmacy
(e)-ISSN: 2250-3013, (p)-ISSN: 2319-4219
Www.Iosrphr.Org Volume 3, Issue 8 (September 2013), Pp 22-26
22
Silver-Russel Syndrome (Srs) : A Review Of Current Concepts
1,
Dr.Sonali Shah, 2,
Dr. Manpreet Kaur , 3,
Dr.J.Paulin Vijay Chandran,
4,
Dr. Sheshadri Sekhar K, 5,
Dr.VK Vijay, 6,
Dr.Prashant Babaji
1,
Principal, Professor, Department of Oral Pathology RR Dental College, Udaipur-313001, India
2,
Senior Lecturer, Dept of Dental Anotamy and Oral Histology RR Dental College, Udaipur-313001, India
3
Reader, Department of Prasthodontics, Rajas Dental College, Kavalkinaru, Tamil Nadu, India
4
Principal, Professor & HOD, Department of Conservative Dentistry & Endodontics, Purvanchal Institute of
Dental Sciences, Gorakhpur, Utter Pradesh, India
5
Senior Lecturer, Department of Periodontics, Rajah Muthiah Dental College and Hospital, Annamalainagar,
Chidamberam, Tamilnadu, India
6
Associate Professor, Department of Pedodontics Vyas Dental College, Jodhpur-342001, India
ABSTRACT: Russell-Silver syndrome is a growth disorder characterized by slow growth before and after
birth. Many children with Russell-Silver syndrome have a small, triangular face with distinctive facial features
including a prominent forehead, a narrow chin, a small jaw, and down-turned corners of the mouth
KEYWORDS: Silver-Russel syndrome,
I. INTRODUCTION
Russell-Silver syndrome (OMIM number- #180860 ) is a growth disorder characterized by slow growth
before and after birth. Babies with this condition have a low birth weight and often fail to grow and gain weight
at the expected rate (failure to thrive). Its Synonyms are RUSSELL-SILVER SYNDROME, SILVER-
RUSSELL DWARFISM. Name of the analyzed genes or DNA/chromosome segments is 11p15.5 1,2
II. PREVALENCE AND INCIDENCE
Estimated frequency of the disease (incidence at birth (‘birth prevalence’) or population prevalence)
unknown. , Prevalence in the ethnic group of the investigated person is Unknown. Estimated prvelence is 1 in
75,000 to 100,000 people. Prenatal diagnosis is rarely required for SRS but may occasionally be requested in
cases of a familial chromosomal rearrangement affecting chromosomes 11p15 and 7, or in cases of trisomy 7
mosaicism in CVS.
Analytical sensitivity
(Proportion of positive tests if the genotype is present)
UPD(7)mat 11p15.5
ICR 1 hypomethylation Nearly 100%*
Duplication of Maternal chromosome11p15.5 Nearly 100%
UPD(11p15)mat Nearly 100%
Imbalanced Cryptic chromosomal aberrations **
Lowgrade mosaics might not be detected
** Depends on the method used
Analytical specificity
(Proportion of negative tests if the genotype is not present)
Nearly 100%.
III. REVIEW:
Based on the clinical features, this syndrome was first described by Silver and colleagues in 19533
who
found certain features of the syndrome in 2 unrelated children and, soon afterwards, by Russell in 1954 4
in 5
unrelated children.In their reports the affected children had characteristic facies, low birthweight, asymmetry,
and growth retardation.
2. SILVER-RUSSEL SYNDROME (SRS)…
23
In 1999, Price et al 5
, reevaluated 57 patients who were previously diagnosed with definite or likely
SRS and also proposed five criteria for diagnosis of SRS. .In their findings 50 patients had clinical features in
the broad definition spectrum of the syndrome.Additional findings were generalized camptodactyly in11
patients. 25 patients were males of which 13 had to be treated with genital surgery for hypospadias and
inguinal hernia.Uniparental Disomy of chromosome 7 was seen in 4 of 42 subjects who went through molecular
analysis.In 1995 Kotzot et al 6
investigated 35 patients with PCR markers for UPD7 and maternal disomy was
seen in 4 cases.Cytogenetic and molecular genetic studies have also been done for Chromosome 1 ,X ,11
besides exclusion studies and Genotype/Phenotype correlations by various authors. In 2011 Gronuland et al 7
identified ophthalmologic abnormalities in17 of 18 children with SRS. So far, about 400 patients have been
described with mild phenotypes to classic phenotypes.Most commonly seen is hypomethylation in the
chromosome 11p15 imprinting center 1 (IC1).In studies on Inheritance pattern,Rimoin(1969)8
, Nyhan and
Sakati(1976) 9
and Samn et al(1990)10
described monozygotic twins with concordant silver dwarfism and
discordant for RSS respectively. Some authors reported familial cases(Fuleihan et al 1971)(Bartholdi et al
2009) 11
, while still others reported cases in generations of a family.(Duncan et al 1990)12
IV. ETIOPATHOGENESIS
A number sign (#) is used with this entry because 20 to 60% of cases of Silver-Russell syndrome (SRS) are
caused by the epigenetic changes of DNA -hypomethylation at the telomeric imprinting control region (ICR1)
on chromosome 11p15, involving the H19 (103280) and IGF2 (147470) genes. About 10% of cases are due to
maternal uniparental disomy of chromosome 7.12
Opposite epimutations, namely hypermethylation at the same
region on 11p15, are observed in about 5 to 10% of patients with Beckwith-Wiedemann syndrome
(BWS; 130650), an overgrowth syndrome .11
Pathophysiology
Typical features include intrauterine growth retardation, difficulty in feeding,failure to thrive, or
postnatal growth retardation. Adequate catch-up growth often does not occur, and final adult height still is less
than normal . Clinical features are usually more clearly manifest in infants and young children but, not in older
children The male-to-female ratio is equal.. In a significant number of children with the syndrome Growth
hormone abnormalities like insufficiency or spontaneous hormone secretion and subnormal responses to
provocative growth hormone stimulation testing have been reported. Other features include :
Facial dimorphism with small triangular facies and normal head circumference but less head length
making it looks disproportionately larger. Intelligence may be normal or there may be learning disability.
Asymmetric Limbs with camptodactyly (ie, fixed flexion of digits) or clinodactyly (ie, incurving) of one or
more fingers may be present.
Oral manifestations:
Children Experience difficulty having milk
They have exceptional face features including a small triangular in shape face, notable nasal link, and
Unusually small, wide mouth; downturned corners of the mouth; and/or an abnormally small jaw .
Kids with Russell-Silver affliction have a problem eating enough calories from fat for development, parents
may figure out how to enhance calorie consumption, as well as special high-calorie formulations may be
provided.
Physical Features:
Head circumference- normal
Sclera- blue
Facies- small and triangular
Forehead- high
Jaw- small with micrognathia
Nasal bridge- prominent Corners of mouth- down-turning
3. SILVER-RUSSEL SYNDROME (SRS)…
24
Therefore,Signs include:
Small, pointed chin
Thin, wide mouth
Triangle-shaped face with broad forehead
Growth and skeletal changes:
Prenatal onset short stature (final height ≤ -3.6 SD)
Late closure of anterior fontanelle
Asymmetry, usually of the limbs
Hemihypertrophy
Clinodactyly of the fifth finger
Camptodactyly
Syndactyly of second and third toes
Sprengel deformity or other hand anomalies
Genital anomalies:
Hypospadias
Posterior urethral valves
Radiographic findings( hand)
Although no single finding is pathognomic, some findings are - Delayed bone age, ivory epiphyses of the distal
phalanges, small middle phalanx of the fifth finger (80%), pseudoepiphyses at the base of the second
metacarpal. 5
Occasional findings
Cardiac defects
Malignancy (eg, craniopharyngioma, testicular seminoma, hepatocellular carcinoma, Wilms tumor)
Assisted reproduction technologies (ART) may increase the risk of imprinting disorders such as Silver-Russell
syndrome
Diagnostic Clinical criteria:
Although not clearly established some of those recently proposed criteria subsequent to study of a group of
homogenous patients are:
Birthweight less than or equal to -2 standard deviations (SD) from the mean
Poor postnatal growth, less than or equal to -2 SD from the mean at diagnosis
Preservation of occipitofrontal circumference
Classic facial phenotype
Asymmetry
Low birthweight (≤ -2 SD)
Feeding difficulties during infancy
Tendency for fasting hypoglycemia during infancy and early childhood
Tendency for increased sweating during infancy, particularly on the head and upper trunk
Developmental delay
Poor head control during infancy caused by relatively large size of head compared to a small body
Motor impairment caused by lack of muscle bulk and strength
Impairment of cognitive abilities (language, arithmetic) during childhood in about 50% of patien
Differential Diagnoses
Fanconi Syndrome
Fetal Alcohol Syndrome
4. SILVER-RUSSEL SYNDROME (SRS)…
25
Diagnostic Analytical Methods(Investigations)
Methylation-specific PCR of parental blood to evaluate for uniparental disomy of chromosome 7 and
hypomethylation at chromosome 11p15 , microsatellite typing, methylation-specific MLPA, chromosomal
microarray or karyotyping
Hand Radiograph findings may be-
Delayed bone age
Ivory epiphyses of distal phalanges
Small middle phalanx of the fifth finger in 80% of patients with Silver-Russell syndrome
Pseudoepiphyses at base of second metacarpal
Treatment :
Calorie intake monitoring
Recombinant human growth hormone (rhGH) therapy given via daily subcutaneous injections. will help the kid
grow much more, but she or he is still smaller than typical size. Recommended dose is 0.48 mg/kg/wk if the
growth of the child is not aequate by the age of 2 years.
Sometimes physical therapy maybe beneficial
Early treatment programs with regard to small children are of help, since a few kids with Russell-Silver
affliction will have trouble with vocabulary and mathematics skills.
Prognosis : Older children and adults do not show typical features as clearly as infants or younger children.
Intelligence may be normal, although the patient may have a learning disability.
Possible Complications
Self esteem and emotional problems related to appearance
Chewing or speaking difficulty if jaw is very small
Learning disabilitie
Hepatocellular Carcinomas
REFERENCES:
[1] Victor A. McKusick, Jane Kelly(2011): OMIM entry,John Hopkins University
[2] 2 . Thomas Eggermann1, Karin Buiting2 and I Karen Temple3(1953):Clinical utility gene card for: Silver–
Russell syndrome European Journal of Human Genetics 19, doi:10.1038/ejhg.2010.202; published online 8
December 2010
[3] Silver, H. K., Kiyasu, W., George, J., Deamer, W. C(1953): Syndrome of congenital hemihypertrophy,
shortness of stature, and elevated urinary gonadotropins. Pediatrics 12: 368-376
[4] Russell, A.( 1954): A syndrome of intra-uterine-dwarfism recognizable at birth with cranio-facial
dysostosis, disproportionate short arms, and other anomalies (5 examples). Proc. Roy. Soc. Med. 47: 1040-
1044.
[5] Price, S. M., Stanhope, R., Garrett, C., Preece, M. A., Trembath, R. C (1999): The spectrum of Silver-
Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J. Med. Genet. 36:
837-842
[6] Kotzot, D., Schmitt, S., Bernasconi, F., Robinson, W. P., Lurie, I. W., Ilyina, H., Mehes, K., Hamel, B. C.
J., Otten, B. J., Hergersberg, M., Werder, E., Schoenle, E., Schinzel,( 1995.): A. Uniparental disomy 7 in
Silver-Russell syndrome and primordial growth retardation. Hum. Molec. Genet. 4: 583-587
[7] 7 . Gronlund, M. A., Dahlgren, J., Aring, E., Kraemer, M., Hellstrom, A.(2011) Ophthalmological findings
in children and adolescents with Silver-Russell syndrome. Brit. J. Ophthal. 95: 637-641,
[8] 8. Rimoin, D. L(1969): The Silver syndrome in twins. Birth Defects Orig. Art. Ser. V(2): 183-187
[9] 9. Nyhan, W. L., Sakati, N. O.(1976): Silver syndrome: Silver-Russell syndrome, Russell-Silver
syndrome.In: Genetic and Malformation Syndromes in Clinical Medicine. : :Chicago: Year Book Med.
Publ. (pub.)
[10] 10. Samn, M., Lewis, K., Blumberg, B.(1990) Monozygotic twins discordant for the Russell-Silver
syndrome. Am. J. Med. Genet. 37: 543-545.
[11] 11. Bartholdi, D., Krajewska-Walasek, M., Ounap, K., Gaspar, H., Chrzanowska, K. H., Ilyana, H.,
Kayserili, H., Lurie, I. W., Schinzel, A., Baumer,( 1990) A. Epigenetic mutations of the imprinted IGF2-
H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-
like phenotypes. (Letter) J. Med. Genet. 46: 192-197, 2009. (12)
5. SILVER-RUSSEL SYNDROME (SRS)…
26
[12] 12. Duncan, P. A., Hall, J. G., Shapiro, L. R., Vibert, B. K(1990):. Three-generation dominant transmission
of the Silver-Russell syndrome. Am. J. Med. Genet. 35: 245-250,
[13] 13. Sunil Sinha,MD,Chief Editor,Bruce Buehler. Silver-Russel Syndrome. Medscape references for
Drugs,Diseases and Procedures.
[14] 14. Eggermann T, Eggermann K, Schönherr N(2008): Growth retardation versus overgrowth: Silver-Russell
syndrome is genetically opposite to Beckwith-Wiedemann syndrome. Trends Genet ; 24: 195–204
[15] 15. Herman, T. E., Crawford, J. D., Cleveland, R. H., Kushner, D. C. (1987):Hand radiographs in Russell-
Silver syndrome. Pediatrics 79: 743-744, ,
[16] 16. Penaherrera, M. S., Weindler, S., Van Allen, M. I., Yong, S.-L., Metzger, D. L., McGillivray, B.,
Boerkoel, C., Langlois, S., Robinson, W. P.(2010): Methylation profiling in individuals with Russell-
Silversyndrome. Am. J. Med. Genet. 152A: 347-355.
.