3MC syndrome is a very rare entity. Its prevalence is unknown, but most cases are reported from the Middle East.
The first case was reported in 1978 and named as Michels syndrome, and recently, with other three syndromes
together, these syndromes are named as 3MC syndrome. All are autosomal recessive disorders and have been
reported by both consanguineous and non-consanguineous parents. Here, we phenotypically analyzed a case presented with the features of blepharophimosis syndrome associated with craniosynostosis suggestive of Michel syndrome, which is a part of the “3MC syndrome.”
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.
A case of Alport syndrome presented with bilateral anterior lenticonusBIJCROO
Purpose: The aim of this study was to report a rare case of Alport syndrome presented with bilateral anterior
lenticonus in a 16-year-old boy.
Case report: A 16-year-old boy presented with decreased vision, a hearing defect, anemia, and proteinuria. His
best corrected visual acuity was 6/18 in both eyes. Slit lamp biomicroscope showed anterior lenticonus in both
eyes. He was managed by correction of refractive error and urgent referral to a nephrologist.
Conclusion: It is easy to diagnose Alport syndrome clinically, and close communication among ophthalmologists,
otorhinolaryngologists, and nephrologists is crucial for effective management of this syndrome.
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.
A case of Alport syndrome presented with bilateral anterior lenticonusBIJCROO
Purpose: The aim of this study was to report a rare case of Alport syndrome presented with bilateral anterior
lenticonus in a 16-year-old boy.
Case report: A 16-year-old boy presented with decreased vision, a hearing defect, anemia, and proteinuria. His
best corrected visual acuity was 6/18 in both eyes. Slit lamp biomicroscope showed anterior lenticonus in both
eyes. He was managed by correction of refractive error and urgent referral to a nephrologist.
Conclusion: It is easy to diagnose Alport syndrome clinically, and close communication among ophthalmologists,
otorhinolaryngologists, and nephrologists is crucial for effective management of this syndrome.
—EEC syndrome is a very rare syndrome having ectrodactyly, ectodermal dysplasia and cleft lip/ palate as cardinal signs with other variable associated features. Very few cases being reported. It is mostly inherited in an autosomal dominant manner. Such cases need coordinated multidisciplinary approach for treatment. A case of incomplete EEC syndrome having ectrodactyly and cleft palate with absence of the signs of ectodermal dysplasia with no systemic anomalies was reported. Other features noted in this case were syndactyly of fingers and toes with bilateral entropion.
Ellis–Van Creveld Syndrome With Unusal Expression Of Multiple Supernumerary T...iosrjce
IOSR Journal of Dental and Medical Sciences is one of the speciality Journal in Dental Science and Medical Science published by International Organization of Scientific Research (IOSR). The Journal publishes papers of the highest scientific merit and widest possible scope work in all areas related to medical and dental science. The Journal welcome review articles, leading medical and clinical research articles, technical notes, case reports and others.
IRF6-related syndrome is a group of cleft lip and palate disorders including Van der Wood Syndrome (VWS) and Popliteal Pterygium Syndrome (PPS). People with VWS are at the lowest end of the spectrum. They can have cleft lip or palate or cleft palate or a combination of these abnormalities. People with PPS usually have cleft lip, cleft lip, or cleft palate, with additional skin and limb abnormalities, including dark skin on the back of both feet (papillary) and between the legs (between the veins), deformity, or abnormalities of the device. Mutations in the interferon-6 regulatory factor (IRF6) gene, located on the long arm of chromosome 1 at 1q32.2, have been linked to IRF6 syndrome
Syndromes /certified fixed orthodontic courses by Indian dental academy Indian dental academy
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and offering a wide range of dental certified courses in different formats.
Indian dental academy provides dental crown & Bridge,rotary endodontics,fixed orthodontics,
Dental implants courses.for details pls visit www.indiandentalacademy.com ,or call
0091-9248678078
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.
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
offering a wide range of dental certified courses in different formats.for more details please visit
www.indiandentalacademy.com
A case of fusional vergence disorder associated with myopiaBIJCROO
Aim: This case study demonstrates the management options for fusional vergence dysfunction (FVD) and
uncorrected myopia.
Background: Binocular vision disorder with abnormalities in fusional vergence dynamics is referred to as “fusional
vergence dysfunction (FVD).” A patient with FVD has asthenopic symptoms, no refractive error, healthy eyes,
normal accommodative functions, a normal accommodative convergence/accommodation ratio, and normal
distant and near phoria status.
Case presentation: A 19-year-old female diagnosed to have FVD along with simple myopia presented to the
clinic with a complaint of asthenopic symptoms. Complete vergence-related and accommodation-related vision
therapies were advised and provided. After 2 months from the initial presentation, the patient successfully
recovered from the existing condition.
Conclusion: Uncorrected myopia with FVD was determined based on the patient’s complaint and the results of
the examination. The condition was treated with vision therapy and a distance optical correction. An office-based
and home-based program can successfully cure FVD
Smartphone – a third eye of people with blindnessBIJCROO
In the current plethora of the digital world, smartphones
have become an integral part of our lives and act as an
essential supportive device in executing daily living activities.
Until now, most of us believe that smartphones are devices
meant for people with a good sight and are not considered
assistive devices for visually impaired individuals. It may
not be an incorrect statement, particularly in lower-middleincome countries. It is a common presumption that the
use of smartphones would need a good vision function,
or how can they be used by people with vision loss?
However, in the recent past, technological advancement
has led to makeshift changes in the interfaces between
humans and smartphones in terms of interaction
Accommodative facility and vergence facility after mobile gamingBIJCROO
Aim: This study aimed to access the changes of accommodation and vergence before and after mobile gaming.
Settings and Design: This was a comparative study conducted in the outpatient department of ophthalmology.
Accommodative facility and vergence facility were measured using flippers.
Materials and methods: A comparative study was conducted on 50 healthy subjects, in both males and females,
with age groups ranging between 18 and 30 years. This study has been approved by the IRB Committee; 25 young
emmetropic patients and 25 young myopic patients were included. The comparison of accommodative facility
and vergence facility before and after mobile gaming for 1 h was measured to determine the level of changes
in accommodation and vergence. All patients were undergone comprehensive ophthalmic examination including
vision, subjective/objective refraction, anterior segment examination, and accommodative and vergence facilities
measured using accommodative and vergence flippers.
Results: The mean and standard deviation value significantly increase before and after mobile gaming in the right
eye, left eye, and both eyes in case of accommodation facility, and there is a decrease in the mean and standard
deviation value in case of vergence facility in both eyes before and after mobile gaming.
Conclusion: The mean and standard deviation value significantly increase before and after mobile gaming in the
right eye, left eye, and both eyes in case of accommodative facility, and there is a decrease in the mean and standard deviation value in case of vergence facility in both eyes before and after mobile gaming.
Smoking and alcoholism: Risk factors for papillitis?BIJCROO
Introduction: Papillitis is the inflammation of the optic nerve at the level of the optic papilla or optic disc. We did
not find enough published studies that corroborate smoking and alcoholism as absolute risk factors for papillitis;
however, it has been raised, so we were motivated to conduct this research, with the aim of identifying a statistically
significant causal association between these factors and papillitis in our hospital.
Methodology: An analytical study of cases and controls was carried out in patients with papillitis treated at the
Ophthalmology Centre of Santiago de Cuba (2017–2019). Group 1 (cases): 42 patients; group 2 (controls): 84
patients’ companions who attended in the same period and did not present ophthalmological entities.
Results: In the association of smoking with papillitis, we obtained an odds ratio (OR) = 1.60, with confidence
interval (CI): [0.74; 3.48], but p > 0.05. Alcoholism with papillitis resulted in an association with OR = 1.19, with CI:
[0.53; 2.68] and p > 0.05.
Conclusion: In this study, smoking and alcoholism had no statistically significant causal association with papillitis.
Neonatal herpes zoster ophthalmicus: Two rare casesBIJCROO
Two neonates, one 15 days old and another 20 days old, presented with redness, eye watering, periocular and lid
swelling, photophobia, and vesicular lesions over forehead on the right side of face. Ocular examination revealed
ciliary and conjunctival congestion, chemosis, and hazy cornea due to stromal edema. Although herpes zoster is
very rare in neonates, the diagnosis of herpes zoster ophthalmicus was made and treated with systemic and topical antiviral, topical antibiotic, and corticosteroid. Both neonates showed dramatic response in 7 days of treatment and fully cured within 4 weeks.
Megalocornea-mental retardation syndrome: Rare but can be thereBIJCROO
We report a case study of a 10-year-old male who had megalocornea with mental retardation (Neuhäuser
syndrome). Megalocornea-mental retardation is a rare syndrome with a few cases reported in literature. The patientwith megalocornea-mental retardation requires a thorough systemic examination.
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—EEC syndrome is a very rare syndrome having ectrodactyly, ectodermal dysplasia and cleft lip/ palate as cardinal signs with other variable associated features. Very few cases being reported. It is mostly inherited in an autosomal dominant manner. Such cases need coordinated multidisciplinary approach for treatment. A case of incomplete EEC syndrome having ectrodactyly and cleft palate with absence of the signs of ectodermal dysplasia with no systemic anomalies was reported. Other features noted in this case were syndactyly of fingers and toes with bilateral entropion.
Ellis–Van Creveld Syndrome With Unusal Expression Of Multiple Supernumerary T...iosrjce
IOSR Journal of Dental and Medical Sciences is one of the speciality Journal in Dental Science and Medical Science published by International Organization of Scientific Research (IOSR). The Journal publishes papers of the highest scientific merit and widest possible scope work in all areas related to medical and dental science. The Journal welcome review articles, leading medical and clinical research articles, technical notes, case reports and others.
IRF6-related syndrome is a group of cleft lip and palate disorders including Van der Wood Syndrome (VWS) and Popliteal Pterygium Syndrome (PPS). People with VWS are at the lowest end of the spectrum. They can have cleft lip or palate or cleft palate or a combination of these abnormalities. People with PPS usually have cleft lip, cleft lip, or cleft palate, with additional skin and limb abnormalities, including dark skin on the back of both feet (papillary) and between the legs (between the veins), deformity, or abnormalities of the device. Mutations in the interferon-6 regulatory factor (IRF6) gene, located on the long arm of chromosome 1 at 1q32.2, have been linked to IRF6 syndrome
Syndromes /certified fixed orthodontic courses by Indian dental academy Indian dental academy
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and offering a wide range of dental certified courses in different formats.
Indian dental academy provides dental crown & Bridge,rotary endodontics,fixed orthodontics,
Dental implants courses.for details pls visit www.indiandentalacademy.com ,or call
0091-9248678078
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.
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
offering a wide range of dental certified courses in different formats.for more details please visit
www.indiandentalacademy.com
A case of fusional vergence disorder associated with myopiaBIJCROO
Aim: This case study demonstrates the management options for fusional vergence dysfunction (FVD) and
uncorrected myopia.
Background: Binocular vision disorder with abnormalities in fusional vergence dynamics is referred to as “fusional
vergence dysfunction (FVD).” A patient with FVD has asthenopic symptoms, no refractive error, healthy eyes,
normal accommodative functions, a normal accommodative convergence/accommodation ratio, and normal
distant and near phoria status.
Case presentation: A 19-year-old female diagnosed to have FVD along with simple myopia presented to the
clinic with a complaint of asthenopic symptoms. Complete vergence-related and accommodation-related vision
therapies were advised and provided. After 2 months from the initial presentation, the patient successfully
recovered from the existing condition.
Conclusion: Uncorrected myopia with FVD was determined based on the patient’s complaint and the results of
the examination. The condition was treated with vision therapy and a distance optical correction. An office-based
and home-based program can successfully cure FVD
Smartphone – a third eye of people with blindnessBIJCROO
In the current plethora of the digital world, smartphones
have become an integral part of our lives and act as an
essential supportive device in executing daily living activities.
Until now, most of us believe that smartphones are devices
meant for people with a good sight and are not considered
assistive devices for visually impaired individuals. It may
not be an incorrect statement, particularly in lower-middleincome countries. It is a common presumption that the
use of smartphones would need a good vision function,
or how can they be used by people with vision loss?
However, in the recent past, technological advancement
has led to makeshift changes in the interfaces between
humans and smartphones in terms of interaction
Accommodative facility and vergence facility after mobile gamingBIJCROO
Aim: This study aimed to access the changes of accommodation and vergence before and after mobile gaming.
Settings and Design: This was a comparative study conducted in the outpatient department of ophthalmology.
Accommodative facility and vergence facility were measured using flippers.
Materials and methods: A comparative study was conducted on 50 healthy subjects, in both males and females,
with age groups ranging between 18 and 30 years. This study has been approved by the IRB Committee; 25 young
emmetropic patients and 25 young myopic patients were included. The comparison of accommodative facility
and vergence facility before and after mobile gaming for 1 h was measured to determine the level of changes
in accommodation and vergence. All patients were undergone comprehensive ophthalmic examination including
vision, subjective/objective refraction, anterior segment examination, and accommodative and vergence facilities
measured using accommodative and vergence flippers.
Results: The mean and standard deviation value significantly increase before and after mobile gaming in the right
eye, left eye, and both eyes in case of accommodation facility, and there is a decrease in the mean and standard
deviation value in case of vergence facility in both eyes before and after mobile gaming.
Conclusion: The mean and standard deviation value significantly increase before and after mobile gaming in the
right eye, left eye, and both eyes in case of accommodative facility, and there is a decrease in the mean and standard deviation value in case of vergence facility in both eyes before and after mobile gaming.
Smoking and alcoholism: Risk factors for papillitis?BIJCROO
Introduction: Papillitis is the inflammation of the optic nerve at the level of the optic papilla or optic disc. We did
not find enough published studies that corroborate smoking and alcoholism as absolute risk factors for papillitis;
however, it has been raised, so we were motivated to conduct this research, with the aim of identifying a statistically
significant causal association between these factors and papillitis in our hospital.
Methodology: An analytical study of cases and controls was carried out in patients with papillitis treated at the
Ophthalmology Centre of Santiago de Cuba (2017–2019). Group 1 (cases): 42 patients; group 2 (controls): 84
patients’ companions who attended in the same period and did not present ophthalmological entities.
Results: In the association of smoking with papillitis, we obtained an odds ratio (OR) = 1.60, with confidence
interval (CI): [0.74; 3.48], but p > 0.05. Alcoholism with papillitis resulted in an association with OR = 1.19, with CI:
[0.53; 2.68] and p > 0.05.
Conclusion: In this study, smoking and alcoholism had no statistically significant causal association with papillitis.
Neonatal herpes zoster ophthalmicus: Two rare casesBIJCROO
Two neonates, one 15 days old and another 20 days old, presented with redness, eye watering, periocular and lid
swelling, photophobia, and vesicular lesions over forehead on the right side of face. Ocular examination revealed
ciliary and conjunctival congestion, chemosis, and hazy cornea due to stromal edema. Although herpes zoster is
very rare in neonates, the diagnosis of herpes zoster ophthalmicus was made and treated with systemic and topical antiviral, topical antibiotic, and corticosteroid. Both neonates showed dramatic response in 7 days of treatment and fully cured within 4 weeks.
Megalocornea-mental retardation syndrome: Rare but can be thereBIJCROO
We report a case study of a 10-year-old male who had megalocornea with mental retardation (Neuhäuser
syndrome). Megalocornea-mental retardation is a rare syndrome with a few cases reported in literature. The patientwith megalocornea-mental retardation requires a thorough systemic examination.
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.
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.
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
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.
Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Ve...kevinkariuki227
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TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
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MANAGEMENT OF ATRIOVENTRICULAR CONDUCTION BLOCK.pdfJim Jacob Roy
Cardiac conduction defects can occur due to various causes.
Atrioventricular conduction blocks ( AV blocks ) are classified into 3 types.
This document describes the acute management of AV block.
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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
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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
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Phenotypic analysis of a case of “3MC syndrome” with review of literature
1. BOHR International Journal of Current Research
in Optometry and Ophthalmology
2022, Vol. 1, No. 1, pp. 49–51
DOI: 10.54646/bijcroo.2022.14
www.bohrpub.com
METHODS
Phenotypic analysis of a case of “3MC syndrome” with review
of literature
Soma Rani Roy1 and Sazzad Kader2
1Resident Surgeon and Head of Oculoplasty & Ocular Oncology, Chittagong Eye Infirmary, Bangladesh
2Senior Assistant Surgeon, Chittagong Eye Infirmary, Bangladesh
*Correspondence:
Soma Rani Roy,
dr.somaroy2020@gmail.com
Received: 05 June 2022; Accepted: 14 June 2022; Published: 20 July 2022
3MC syndrome is a very rare entity. Its prevalence is unknown, but most cases are reported from the Middle East.
The first case was reported in 1978 and named as Michels syndrome, and recently, with other three syndromes
together, these syndromes are named as 3MC syndrome. All are autosomal recessive disorders and have been
reported by both consanguineous and non-consanguineous parents. Here, we phenotypically analyzed a case
presented with the features of blepharophimosis syndrome associated with craniosynostosis suggestive of Michel
syndrome, which is a part of the “3MC syndrome.”
Keywords: blepharophimosis, epicanthus inversus, telecanthus, craniosynostosis, short 5th finger
Introduction
The syndrome includes four rare autosomal recessive
disorders that were designated earlier as Carnevale,
Mingarelli, Malpuech (MIM 248340), and Michels
(MIM 257920) syndromes. Among these, Michels
or oculo-palato-skeletal syndrome was first reported
by Michels et al. (1). All these syndromes are rare,
autosomal recessive in inheritance and are reported in
both consanguineous and non-consanguineous healthy
parents. Facial dysmorphism is the main feature of these
syndromes, and these are hypertelorism, telecanthus,
blepharophimosis, blepharoptosis, and highly placed arched
eyebrows and are found in 70–95% of cases. Cleft palate and
lip, cognitive impairment, hearing difficulty, and defective
postnatal growth can be found in 40–68% of cases. Skeletal
disorders like craniosynostosis, radioulnar synostosis, and
systemic anomalies like genital and vesicorenal are found
in 20–30% of cases. Some rare features of anterior segment
defects, cardiac anomaly, caudal appendages, and umbilical
hernia diastasis recti may also be found (2). Although the
prevalence of the 3MC syndrome is unknown, a literature
search showed that the most affected people reside in the
Middle East (3).
Here, we report a case of 3MC syndrome that presented
with the features of blepharophimosis syndrome and
craniosynostosis, which are predominant features of the
Michels syndrome. To the best of our knowledge, this is the
first documented case from Bangladesh.
Case report
A 7-year-old girl presented at the Orbit and Oculoplastic
clinic with complaints of drooping of the right upper lid
since birth. She was the first and only baby of healthy
first-degree consanguineous parents who were delivered by
cesarean section. Her weight at birth was 3,200 gm with a
normal APGAR score. She had no history of postnatal oxygen
inhalation or other illness, nor did she have any perinatal
illness history of her mother, but she had a history of some
delay in milestone of development.
Her general examination revealed short height in
comparison to a same-aged girl and her weight was 39 kg,
which is above the 95th percentile, that is, overweight
for her age. She had a flat occiput and frontal bone with
49
2. 50 Roy and Kader
overriding of the fronto-parital suture with brachycephaly
skull; high arched palate; short broad hand with short 5th
finger; broad feet with a gap between great and second
toes; and normal-sized low-set ears with hearing difficulty
(Figures 1, 2). She also had mild mental retardation. Her
facial examination showed bilateral ptosis with more in the
right eye (palpebral fissure height of 4 and 7 mm), shallow
orbit with mild pseudoproptosis, telecanthus (intercanthal
distance of 38 mm and interpupillary distance of 55 mm),
hypertelorism, sparse hair at the lateral part of the eyebrow,
depressed nasal bridge, and midfacial and mandibular
hypoplasia (Figure 1). She had no other abdominal,
urogenital, or joint abnormalities.
Her best corrected visual acuity was 6/9 in both eyes
with a wet refraction of -0.75 × 90◦ in the right eye and
-0.50 × 90◦ in the left eye with normal ocular structure
in both anterior and posterior segments. She was primarily
diagnosed as having Michels syndrome, and according to
the literature review, she was finally diagnosed as having
3MC syndrome. For bilateral ptosis surgery, a spectacle
was prescribed and counseled. Because her parents were
unwilling to have ptosis surgery, and she was kept in regular
follow-up of 6 months intervals.
Discussion
The first reported case was four siblings (three males,
one female) from a normal, non-consanguineous parent
by Michels in 1978 (1) and De La Paz in 1991 (4). They
had features of blepharophimosis, blepharoptosis, epicanthus
FIGURE 1 | Facial features. (A) Bilateral ptosis, epicanthus,
telecanthus, hypertelorism, and sparse hair in eyebrow. (B) High
arched palate. (C) Brachycephaly, flat occiput and frontal bone, malar
and mandibular hypoplasia, and low-set ear.
FIGURE 2 | Limb abnormalities. (A) Short broad hand with a short
5th figure.(B) Short feet with wide gap between great toe and second
toe.
inversus (BBE); hypertelorism; anterior segment defect of
the eye; cleft lip and cleft palate; skeletal defect; and
deafness and mild mental retardation. In 1990, Cunniff
(5) also reported one case of Michels syndrome of a
normal and non-consanguineous parent but without an
anterior segment defect. This syndrome was also reported
in normal and consanguineous parents in 1994 by Guion
et al. (6). In, Carnevale et al. (7) reported two cases
from a consanguineous parent with BBE; large low-set
ears; convergent squint; abdominal muscle agenesis (partial);
cryptorchidism; hip dislocation; and developmental delay
(8). In, Mingarelli et al. (9) described a similar oculo-facial-
skeletal-abdominal abnormality associated with hearing
difficulty, with a normal-shaped ear but with normal
intelligence (8). Malpuech et al. (10) and subsequently
Reardon et al., Kerstjens-Frederikse et al reported some cases
associated with urogenital anomalies; caudal appendages
along with hypertelorism, ptosis, epicanthus, prenatal growth
deficiency, and mild mental retardation, which were referred
to as Malpuech syndrome (8, 11, 12). These overlapping
phenotypes (Table 1) were reviewed by Titomanlio et al.,
and they explained that all these syndromes are not separate
disorders but rather a single recessive spectrum. They also
proposed the name “3MC syndrome” (Malpuech-Mischel-
Mingarelli-Carnevale syndrome) (8). All these reported
syndromes are from both consanguineous and non-
consanguineous parents.
Our reported case was from a normal consanguineous
healthy parent. She had typical BBE, telecanthus, and
hypertelorism, which are present in 70–90% of cases of 3MC
syndrome, but the highly arched eyebrow was absent. She
had skull bone deformities, malar hypoplasia, and sparse
lateral eyebrow as reported by Guion-Almeida et al. (6)
in a case of Michels syndrome, and this case was from a
consanguineous parent, which is similar to the present case.
Any radioulnar synostosis, abdominal diastasis, and systemic
problems like vesicorenal or genital abnormalities, which
are mostly found in Carnevale and Malpuech syndromes,
were absent in our case (8, 11, 12). The patient had low-set
ears, hearing difficulty, a short 5th figure, and mild mental
retardation, which are features of most cases of Michels
syndrome. In our patient, cleft lip and palate were absent,
which is found in 40–68% of cases, but it was also absent
in cases reported by De La Paz et al. (4) and Cunnif and
Jones (5).
A literature search showed that most patients with
3MC syndrome are from the Middle East, although the
prevalence has not yet known (3). All these syndromes
have the most common presentation of blepharophimosis,
blepharoptosis, and epicanthus inversus, which together
are called blepharophimosis syndrome and autosomal
dominant in inheritance. But these syndromes are autosomal
recessive in inheritance and have been reported in both
consanguineous and non-consanguineous parents. Genetic
analysis showed that these disorders are caused by mutations
3. 10.54646/bijcroo.2022.14 51
TABLE 1 | Characteristic features of 3MC syndromes.
Features Carnevale syndrome Mingarelli Malpuech Michels
syndromes
Eyelid triad of BBE + + + down slanting of
palpebral fissures
+
High arching brow and telecanthus + + + +
Cleft lip and palate – – + +
Ear abnormalities/hearing loss Large fleshy ear
Hearing loss
Normal ear Hearing
loss
Large fleshy ear
Hearing loss
Small low-set ear
Hearing loss
Intrauterine growth retardation/postnatal
delay
+ – + +
Cognitive impairment + + + +
Skeletal abnormalities + humeroradial
synostosis and spine
+ + ± skull anomaly/
craniosynostosis
Renal and genital abnormality – – + –
Ocular abnormalities/squint + + + +
Abdominal diastasis + lozenge shaped + + –
Adapted from Adio et al. (15).
in mostly three genes, and these are mannose-binding lectin-
associated serine protease (MASP1), COLEC11, or COLEC10
genes (2, 13, 14). Till 2020, a total of 46 3MC patients
from 34 families were reported to have the mutation of
the abovementioned genes and were from consanguineous
parents (4). Most patients (26 patients) had mutations in
MASP 1 gene (3). The mutation of these genes causes
production of a defective corresponding protein, resulting
in defective cell migration at an early stage of embryonic
development. When cell migration is impaired, it interferes
with the ontogenesis of tissue and organs, resulting in various
abnormalities (2).
Here, we analyzed the phenotypic features of our patient,
and due to the unavailability of genetic tests, we were unable
to do this. Our analysis showed most features are from
Michels syndrome. As all four syndromes in combination
are expressed as 3MC syndrome (OMIM 265050), ours is
also a case of 3MC syndrome from a normal consanguineous
Bangladeshi parent and, to the best of our knowledge, is the
first case from Bangladesh.
Conclusion
3MC syndrome is a rare disease, and phenotypic feature
analysis will help ophthalmologists with proper management
and referral where genetic tests are limited or not available.
References
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