scholarly journals Apert syndrome: A dermatologist’s perspective

2021 ◽  
Vol 1 ◽  
pp. 66
Author(s):  
Nidhi Kamra ◽  
Ankita Tuknayat
Keyword(s):  
Clinical Features ◽  
Literature Search ◽  
The Body ◽  
Apert Syndrome ◽  
Rare Entity ◽  
Electronic Database ◽  
Craniofacial Malformations ◽  
Hands And Feet

Apert syndrome is a Type 1 acrocephalosyndactyly syndrome presenting predominantly with craniofacial malformations and syndactyly. It can present with a multitude of clinical features involving any system of the body. A literature search of the PubMed electronic database was performed using the keywords “Apert syndrome” and “dermatology” in the title. The relevant references of the included articles were traced and included. A total of 27 articles appeared, the abstracts of which were screened and reviewed by both the authors independently for inclusion. After carefully analyzing all papers case by case, 21 such cases were retrieved. Cases presenting with other clinical features apart from dermatological features were also reviewed but were not included in the table. A total of about 30 patients of Apert syndrome have been described in dermatological literature, acne being the most common dermatological manifestation. Predominant clinical features in all the cases were brachycephaly due to craniosynostosis and syndactyly of hands and feet. Most of the patients had skeletal, dental, gastrointestinal, genitourinary, respiratory, cardiovascular, and dermatological manifestations in varying proportions. Apert syndrome is a rare entity which can present to a dermatologist. It is, therefore, pertinent to be able to diagnose and recognize the various clinical features of this syndrome to ensure timely management of such patients.

scholarly journals Apert Syndrome: A Rare Genetic Disorder

2021 ◽  
Vol 11 (2) ◽  
pp. 475-477
Author(s):  
Mahmuda Hassan ◽  
B H Nazma Yasmeen ◽  
Masuma Khan ◽  
Afsana Mukti
Keyword(s):  
Genetic Disorder ◽  
The Body ◽  
Apert Syndrome ◽  
Type I ◽  
Fibroblast Growth Factor Receptors ◽  
Rare Type ◽  
Medical College ◽  
Branchial Arches ◽  
Maxilla And Mandible ◽  
Hands And Feet

Apert syndrome is a rare type I acrocephalosyndactyly syndrome having autosomal dominant inheritance due to mutations in the fibroblast growth factor receptors gene. New or fresh mutations are also frequent. It is characterized by dysmorphic face, craniosynostosis, severe syndactyly of the hands and feet. Apert syndrome affects the first branchial or pharyngeal arch, the precursor of the maxilla and mandible. Disturbances in the development of branchial arches during fetal period create extensive malformation in different parts of the body. Management of Apert syndrome requires a multidisciplinary approach. We, hereby, report a case of a 45-days old baby with Apert syndrome. Northern International Medical College Journal Vol.11 (2) Jan 2020: 475-477

scholarly journals Anonychia Congenita in a Young Boy - A Rare Entity

2020 ◽  
Vol 07 (01) ◽  
pp. 20-22
Author(s):  
Satish Kumar ◽  
Keyword(s):  
The Body ◽  
Congenital Disorder ◽  
Rare Entity ◽  
Rare Anomaly ◽  
Right Hand ◽  
Rare Congenital Disorder ◽  
Hands And Feet ◽  
Little Finger ◽  
Second Degree

Congenital anonychia in isolated form is a rare anomaly in which there is absence of nails of fingers and toes since birth. Other ectodermal and mesodermal defects in the body are absent. Here, we report a case of 16 year old male having rare congenital disorder anonychia in his hands and feet except in little finger of right hand, lateral two digits of right foot and thumbs of both hands with deformed nails. All other systemic examinations were normal. His parents and siblings were normal as were the second degree relatives.

scholarly journals Visfatin and Gestational, Type 1 and Type 2 Diabetes Mellitus: A Review of Literature

2017 ◽  
Vol 5 (2) ◽  
pp. 27
Author(s):  
Ekpe EL ◽  
Omotoso Ayodele
Keyword(s):  
Diabetes Mellitus ◽  
Literature Search ◽  
Relevant Information ◽  
Diabetes Mellitus Type 1 ◽  
The Body ◽  
Review Of Literature ◽  
True Conclusion ◽  
Comprehensive Literature Search

Background: Adipose tissues produce adipocytokines and other various substances that have useful actions in the body. One of such adipocytokines is visfatin which has been linked to diabetes mellitus. Aim: This study aimed at investigating the existence of a probable correlation between plasma levels of visfatin and the various types of diabetes mellitus: type 1, type 2 and gestational diabetes mellitus. Methods: A comprehensive literature search was performed using the Internet search engines linked to academic databases including Pubmed, Google Scholar, Ebsco, Hinari, etc. Studies involving visfatin were thoroughly searched and the references of such articles were also searched for any probable relevant information. Results/Findings: There is no agreed finding regarding the correlation between visfatin and diabetes mellitus. While some authors believed that plasma visfatin levels are elevated in diabetes mellitus, others believed that the contrary might be true. Conclusion: Various studies conducted so far have contrasting opinions about the correlation between plasma visfatin levels and diabetes mellitus.  

scholarly journals Apert Syndrome: Case Series and Review of The Literature

2021 ◽  
Vol 8 (1) ◽  
pp. 1-5
Author(s):  
Silvina Silvina ◽  
Rizka Khairiza ◽  
Muhammad Rizqy Setyarto
Keyword(s):  
Molecular Genetic ◽  
Case Series ◽  
Clinical Findings ◽  
Apert Syndrome ◽  
Review Of The Literature ◽  
Skull Shape ◽  
Syndromic Craniosynostosis ◽  
Upper And Lower Extremities ◽  
Hands And Feet

Summary: Apert syndrome is a type 1  acrocephalosyndactyly, a rare syndrome characterized by the presence of multiple craniosynostoses,  dysmorphic facial manifestations, and syndactyly of hand and feet. It affects 1:100.00 of birth and the second most common of syndromic craniosynostosis. Molecular genetic tests that identify the heterozygous pathogenic variant in FGFR2 genes - identical with Apert syndrome cost too high to be applicable in developing countries. Therefore, the diagnosis of Apert syndrome should be suspected from the clinical findings. Three cases from the Community of Indonesian Apert Warrior Group were collected. These series were based on medical and surgical records. We obtained the patient characteristic from the phenotypic manifestations only. We present cases of 6-years-old male, 2-years-old female, and 3-years-old female, respectively, with similar anatomical findings, such as skull shape abnormality, midface hypoplasia, intraoral disfigurement, and hands and feet deformities that resemble Apert Syndrome. Our series presents similar Apert syndrome characteristics, such as typical craniofacial dysmorphic with symmetrical syndactyly of both upper and lower extremities. These clinical findings are essential to establish an initial diagnostic of Apert Syndrome.

FUNCTIONAL STATUS AND ADAPTIVE POTENTIAL IN FOREIGN STUDENTS WITH DIFFERENT TYPES OF VEGETATIVE REGULATION DURING TUITION

2020 ◽  
pp. 118-126
Author(s):  
A.M. Satarkulova
Keyword(s):  
Heart Rate ◽  
Foreign Students ◽  
Autonomic Regulation ◽  
The Body ◽  
Functional Changes ◽  
Different Types ◽  
Type 3 ◽  
Adaptive Abilities

The assessment and dynamic control over students’ status is a very important task. It allows timely detection of prenosological status prior to pathology and health maintenance in students. The objective of the paper is to assess the adaptive abilities of the body, to analyze changes in heart rate variability indicators in students with various types of autonomic regulation, to identify prenosological status and precursory pathological symptoms. Materials and Methods. The study enrolled 302 students from India, aged 21.54±1.43. Programming complex «Psychophysiologist» was used to register the main HRV parameters within 5 minutes. Health status was evaluated according to the index of functional changes and the scale of functional states. Results. N.I. Shlyk (2009) distinguished two groups of students with different types of autonomic regulation: type 1 (53 %) with moderate and type 2 (5 %) with marked characteristics of central regulation profile, type 3 (35 %) with moderate and type 4 (7 %) with marked characteristics of autonomous regulation profile. Main parameters of HRV and adaptation potential were defined for each student.All the parameters characterized functional and health status. Conclusions. It was shown that 82 % of trial subjects (type 1), 53 % (type 2), 94 % (type 3) and 95 % (type 4) demonstrated satisfactory adaptation and their physiological processes were at an optimal level. 18 % of students (type 1) demonstrated reduced adaptive abilities of the body. Moreover, they were under moderate stress. 47 % of subjects (type 2) were also under a significant stress, which was proven by excessively high SI, low SDNN and TP, and an increased index of functional changes. 5 % of students (type 4) revealed dysfunctional characteristics in the heart rhythm, peculiar to pathology. Keywords: foreign students, heart rate variability, types of autonomic regulation, adaptation potential, functional status. Оценка состояния студентов и динамический контроль за ним является важной задачей, поскольку позволяет своевременно выявлять у студентов донозологические состояния, предшествующие патологии, и способствовать сохранению здоровья. Цель. Оценка адаптивных возможностей организма, анализ изменений показателей вариабельности сердечного ритма у студентов с различными типами вегетативной регуляции, выявление донозологических состояний и ранних признаков патологии. Материалы и методы. В исследовании участвовало 302 студента в возрасте 21,54+1,43 года из Индии. Регистрировались основные параметры ВСР в течение 5 мин с использованием программно-аппаратного комплекса «Психофизиолог». Состояние и уровень здоровья оценивались по индексу функциональных изменений и шкале функциональных состояний. Результаты. По способу, предложенному Н.И. Шлык, выделены группы студентов с различными типами вегетативной регуляции: I (53 %) и II типы (5 %) – с умеренным и выраженным преобладанием центрального контура регуляции соответственно, III (35 %) и IV типы (7 %) – с умеренным и выраженным преобладанием автономного контура регуляции соответственно. У каждого из студентов определены основные параметры ВСР и адаптационного потенциала, характеризующие функциональное состояние и уровень здоровья. Выводы. Показано, что для 82 % обследуемых с I типом, 53 % со II типом, 94 % c III типом и 95 % с IV типом регуляции характерно состояние удовлетворительной адаптации, физиологические процессы сохраняются на оптимальном уровне. В группе студентов I типа у 18 % студентов адаптивные возможности организма снижены, выявлено состояние умеренного напряжения. У 47 % обследуемых II типа также зафиксировано состояние резко выраженного напряжения, индикатором которого является чрезмерно высокое значение SI, низкие величины SDNN и ТP, повышенное значение индекса функциональных изменений. В группе студентов с IV типом у 5 % учащихсяв регуляции ритма сердца выявлены дисфункциональные признаки, характерные для патологии. Ключевые слова: иностранные студенты, вариабельность сердечного ритма, типы вегетативной регуляции, адаптационный потенциал, функциональное состояние.

A Review on Post Pregnancy Healer Herbs

2019 ◽  
Vol 15 (2) ◽  
pp. 102-108 ◽  
Author(s):  
Rashmi Saxena Pal ◽  
Yogendra Pal ◽  
Pranay Wal
Keyword(s):  
Literature Search ◽  
Review Article ◽  
The Body ◽  
Medical Supervision ◽  
Areas Of Concern

Background: Postpartum is an important phase of life after childbirth. It needs to be highly important as in terms of health in future life. This time brings lots of complications with it. Lots of aspects need to be looked after as the care of the new mom is essential to bring back her stamina and strength. Objective: The objective of this review article is to explore the heeding power hidden in nature for returning back to the mothers to the pre-pregnancy state. There are various areas of concern after postpartum to heal up the body overall, such as to heal up the uterus, providing galactagogues, nutritives, maintenance of hormones and restoring back the strength and tone of the abdomen. Materials and Methods: A literature search has been done on the various herbs, which fulfill the various desired aspects to be looked after post pregnancy. Results: There are various herbs present in nature, regarding their hidden potential still the awareness is not up to the mark. This review highlights the various plants which have been proven to be useful in dealing the post-pregnancy issues. They deal with all the aspects of complications and issues occurring post pregnancy. They heal the uterus which has undergone so many types of changes, maintains the balance of hormones back, besides providing nutrition and increasing the production of milk, they also restore back the tone and strength of the walls of the abdomen. Conclusion: These herbs are full-fledged with the phytoconstituents that heal the whole system after delivery. The need of present time is to take patiently these as the source of medicines regularly under medical supervision to overcome the various concerned problems of post pregnancy.

scholarly journals Insulin’s Discovery: New Insights on Its Hundredth Birthday: From Insulin Action and Clearance to Sweet Networks

2021 ◽  
Vol 22 (3) ◽  
pp. 1030
Author(s):  
Melanie Leroux ◽  
Martial Boutchueng-Djidjou ◽  
Robert Faure
Keyword(s):  
Type 1 Diabetes ◽  
Cell Surface ◽  
20Th Century ◽  
Insulin Action ◽  
100Th Anniversary ◽  
The Body ◽  
Nobel Lecture ◽  
Surface Receptors ◽  
The Third

In 2021, the 100th anniversary of the isolation of insulin and the rescue of a child with type 1 diabetes from death will be marked. In this review, we highlight advances since the ingenious work of the four discoverers, Frederick Grant Banting, John James Rickard Macleod, James Bertram Collip and Charles Herbert Best. Macleoad closed his Nobel Lecture speech by raising the question of the mechanism of insulin action in the body. This challenge attracted many investigators, and the question remained unanswered until the third part of the 20th century. We summarize what has been learned, from the discovery of cell surface receptors, insulin action, and clearance, to network and precision medicine.

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