1. Duchenne muscular dystrophy is an X-linked recessive genetic disorder that causes progressive muscle weakness in boys. It is characterized by muscle degeneration and affects 1 in 3,600 male births.
2. Genetic counseling for DMD involves 5 steps - reaching a diagnosis through family history, examinations, and tests; assessing recurrence risks; communicating the condition; discussing options; and providing long-term support.
3. Prenatal diagnosis methods like amniocentesis and ultrasound can determine if a male fetus is affected to allow couples to prepare or consider alternatives like abortion or adoption.
achondroplasia is genetic disorder that results in dwarfism
problem is not in forming cartilage but in converting it to bone.
This disorder usually results in the following: An average-size trunk; Short arms and legs, with particularly short upper arms and upper legs; Short fingers.
Mutation in FGFR3 on chromosome 4 is responsible for achondroplasia.
achondroplasia is genetic disorder that results in dwarfism
problem is not in forming cartilage but in converting it to bone.
This disorder usually results in the following: An average-size trunk; Short arms and legs, with particularly short upper arms and upper legs; Short fingers.
Mutation in FGFR3 on chromosome 4 is responsible for achondroplasia.
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.
CP is the most common motor disability in childhood. Cerebral means having to do with the brain. Palsy means weakness or problems with using the muscles. CP is caused by abnormal brain development or damage to the developing brain that affects a person's ability to control his or her muscles.
This project was developed for a competitive intelligence company by mining data from the various information sources e.g. Company (News, Investor Section, SEC filings, Annual Reports, Presentations etc), Universities/Medical Schools/Organizations, Medical Affairs Companies, Non- Profit Medical Agency, Government Agencies, Drug Delivery Companies, Contract Manufacturing Organizations, Contract Research Organizations, Consultancies and Financial Institutions. The complete information available there complied into a single MS word document, listed in MS Excel and then by using MS publisher it was converted into the report which finally converted into PDF.
Blood Group Selection in Newborn Transfusion - Dr Padmesh - NeonatologyDr Padmesh Vadakepat
Before transfusing blood in a newborn, we have to understand the basic physiology and unique features of newborn blood groups. This presentation aims to simplify the same.
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
Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
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.
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
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
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
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.
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.
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
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Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
1. PRENATAL DIAGNOSIS & GENETIC COUNSELING IN DMD
DNB Pediatrics Solved answers - Dr.Padmesh. V
INTRODUCTION:
-Duchenne muscular dystrophy is the most common hereditary neuromuscular disease.
-Its characteristic clinical features are progressive weakness, intellectual impairment, hypertrophy of the
calves, and proliferation of connective tissue in muscle.
-The incidence is 1 : 3600 liveborn infant boys.
-This disease is inherited as an X-linked recessive trait.
-The abnormal gene is at the Xp21 locus.
-Becker muscular dystrophy is the same fundamental disease as Duchenne dystrophy, with a genetic
defect at the same locus, but clinically it follows a milder and more protracted course.
- The molecular defects in the dystrophinopathies vary: intragenic deletions, duplications, or point
mutations of nucleotides. About 65% of patients have deletions, and only 7% exhibit duplications.
GENETIC COUNSELING IN DMD:
FIVE STEPS IN GENETIC COUNSELING:
1. Reaching at a DIAGNOSIS : 2. Risk Assessment, including risk of Recurrence;
3. Communication; 4. Discussion of Options; 5. Long term contact and support;
STEP 1.Reaching at a diagnosis:
1. First step is construction of a family tree:
-Pattern of inheritance can be obtained from Pedigree analysis.
-X-linked recessive,hence affects only males. Females are carriers.
2. History taking:
-Poor head control in infancy may be the 1st sign of weakness.
-Walks often at the normal age of about 12 mo, but hip girdle weakness may be seen in subtle
form as early as the 2nd yr.
-Progression of weakness continues into the 2nd decade.
-Death usually at about 18–20 yr of age. The causes of death are respiratory failure in sleep,
intractable heart failure, pneumonia, or occasionally aspiration and airway obstruction.
2. 3. Clinical Examination:
-An early Gowers sign is often evident by age 3 yr and is fully expressed by age 5 or 6 yrs.
A Trendelenburg gait, or hip waddle, appears at this time.
-Toddlers may assume a lordotic posture when standing to compensate for gluteal
weakness.
-Pseudohypertrophy of calves.
-Contractures (ankles, knees, hips, and elbows) -Scoliosis is common.
-Cardiomyopathy -Intellectual impairment
4. Investigations:
-Serum CK level is consistently greatly elevated in DMD, even in presymptomatic stages,
including at birth. Even asymptomatic carrier state of Duchenne dystrophy is associated with
elevated serum CK values in 80% of cases.
-Cardiac assessment by echocardiography, electrocardiography (ECG), and CXR.
-Electromyography (EMG) shows characteristic myopathic features but is not specific for
DMD. No evidence of denervation is found. Motor and sensory nerve conduction velocities are
normal.
- Cytogenetic analysis.
- Carrier testing
CONFIRMING THE DIAGNOSIS:
1.Blood polymerase chain reaction (PCR) for the dystrophin gene mutation.
2.Muscle biopsy
a. Dystrophin immunocytochemistry can be performed on muscle biopsy sections.
b. Muscle biopsy is diagnostic and shows the following characteristic changes:
-Myopathic changes include:
Endomysial connective tissue proliferation,
Scattered degenerating and regenerating myofibers,
Foci of mononuclear inflammatory cell infiltrates as a reaction to muscle fiber necrosis,
Mild architectural changes in still functional muscle fibers, and Many dense fibers.
3. STEP 2. Risk Assessment, including risk of Recurrence:
Despite the X-linked recessive inheritance in Duchenne muscular dystrophy, about 30% of
patients are new mutations, and the mother is not a carrier. Approximately 1/3 of cases are due
to new genetic mutations and only about 2/3 of cases occur by inheritance of the disease-
causing gene from the carrier mother.
- Only males affected.
-Recurrence risk
a. If the mother is a carrier,recurrence risk in her Child:
i. 50% risk to her son to receive the disease gene and express the disease.
ii. 50% risk to her daughter to receive the disease gene and become a carrier.
iii. Mother of a DMD patient, regardless of proven carrier status, has an empiric risk of 10–
30% of having an affected male fetus due to presence of maternal germinal mosaicism
b. Recurrence risk in Patient’s offspring:
i. Males with DMD: patient usually succumb or too debilitated to reproduce.
ii. Males with BMD may reproduce & recurrence risk is:
a) None of the sons will inherit the mutation
b) All the daughters are carriers
STEP 3. Communication:
-Counseling to be started as early as possible.
-Rapport with both parents and both parents must be present during counseling.
-Describe genetic basis of disease using simple language and visual aids.
-Natural History of the condition to be explained.
-Genetic aspects & recurrence risk.
-Options about Pre-natal diagnosis & prevention.
4. PRENATAL DIAGNOSIS:
a. In case of a known and readily detectable gene defect
i. Chorionic villi sampling for DNA analysis by Southern blot or PCR.
Amniocentesis and mutation analysis of amniocytes: Usually by multiplex PCR
ii. Preimplantation diagnosis: By single-cell PCR of blastomere or polar body
iii. Fetal nucleated erythrocytes from maternal blood analyzed by multiplex PCR.
iv. Confirmed in aborted fetuses with DMD by immunohistochemistry for dystrophin in muscle.
b. In case of unknown gene defect
i. Fetal sexing. Allow females to proceed to term
ii. Linkage analysis
iii. Fetal muscle biopsy for quantitative dystrophin analysis may serve as a diagnostic option.
STEP 4. Discussion of Options with NON DIRECTIVENESS:
Discuss about options available,like:
- Prenatal diagnosis - Abortion - Not having children - Adoption
STEP 5. Long term contact and support: Combined approach involving
-Parents -Genetic counselor -Family physician -Social worker -Other medical specialties
-Support groups
Management of DMD: Mainly supportive
1. Physical therapy
2. Treatment of dystrophic cardiomyopathy
3. Pharmaceutical agents (steroids)
4. Orthopedic surgery
5. Careful monitoring of pulmonary function & Ventilation for respiratory failure.
6. Genetic therapies in DMD: Use of viral and plasmid vectors to deliver dystrophin to
dystrophin–deficient muscle in vivo.
7. Corrective gene therapy
5. (Ref: Nelson, Atlas of Genetic Diagnosis & counseling by Harold Chen, IAP Textbook of pediatrics)
-Dr.Padmesh.
6. (Ref: Nelson, Atlas of Genetic Diagnosis & counseling by Harold Chen, IAP Textbook of pediatrics)
-Dr.Padmesh.