scholarly journals Congenital Diseases of Esophagus

2017 ◽  
Author(s):  
Mehrdad Hosseinpour ◽  
Bahareh Ahmadi
Keyword(s):  
Congenital Diseases

Rare diseases and their patient organization: the Hungarian Federation of People with Rare and Congenital Diseases

2014 ◽  
Vol 155 (9) ◽  
pp. 329-333
Author(s):  
Gábor Pogány
Keyword(s):  
Social Services ◽  
Rare Diseases ◽  
Poor Quality ◽  
Congenital Diseases ◽  
Governmental Organization ◽  
Patient Organizations ◽  
Long Duration ◽  
Care And Support ◽  
Educational Professionals ◽  
Duration Of Hospitalization

The aim of the author is to discuss special issues of rare diseases, with emphasis on circumstances present in Hungary, including those leading to the foundation of the non-governmental organization, the Hungarian Federation of People with Rare and Congenital Diseases. The author briefly reviews the most important findings of current international surveys which have been performed with or without the involvement of member associations of the Hungarian Federation of People with Rare and Congenital Diseases. At the level of medical and social services in Hungary, it is still “incidental” to get to the appropriate expert or centre providing the diagnosis or treatment. It is difficult to find the still very few existing services due to the lack of suitable “pathways” and referrals. There are long delays in obtaining the first appointment, resulting in vulnerability and inequality along the regions. The overall consequence is the insufficiency or lack of access to medical and social services. There are also difficulties related to the supply of orphan medication and the long duration of hospitalization. At the level of patient organizations financial scarcity and uncertainty are typical, combined with inappropriate infrastructural background and human resources. The poor quality of organization of patient bodies along with insufficient cooperation among them are characteristic as well. The author concludes that a National Plan or Strategy is needed to improve the current fragmentation of services which would enable patients and health, social and educational professionals to provide and use the best care in the practice. This would ensure all patients with rare diseases to be diagnosed within a possible shortest time allowing access to the care and support needed in time resulting in a decrease in burden of families and society. Orv. Hetil., 2014, 155(9), 329–333.

Case report: a child with cystic fibrosis and phenylketonuria

2020 ◽  
Vol 1 (2) ◽  
pp. 38-44
Author(s):  
Irina V. Vakhlova ◽  
Anastasia D. Kazachina ◽  
Olga A. Beglyanina
Keyword(s):  
Cystic Fibrosis ◽  
Case Report ◽  
Clinical Practice ◽  
Neonatal Screening ◽  
Genetic Disorders ◽  
Epileptiform Activity ◽  
Autism Spectrum ◽  
Speech Development ◽  
Inherited Disorders ◽  
Congenital Diseases

Background. In the international clinical practice there have been occasional reports of phenylketonuria (PKU) and cystic fibrosis (CF) found simultaneously in the same patient. Both PKU and CF are the inherited disorders characterized by autosomal recessive type of inheritance. Currently the combination of two or more inherited disorders in one patient is considered to be a clinical rarity.Case description. This is a clinical case of two genetic disorders, CF and PKU, combined in a 5-year old patient who had been followed up since birth. Owing to implementation of neonatal screening for inherited and congenital diseases into clinical practice, during the first month of life the infant was diagnosed with CF (diagnostically significant elevation of immunoreactive trypsin [IRT] at the initial [163.2 ng/mL] and repeat testing on day 21 of life [138.7 ng/mL]) and PKU (phenylalanine [PA] level 15.9 mg/dL). Both disorders have been confirmed by genetic tests, i.e., homozygous DelF508 mutation was found in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and P281L mutation in the phenylalanine hydroxylase (PAH) gene was also present in homozygous state. Child’s parents strictly adhered to dietary and treatment recommendations. By the age of 5 years the child developed symptoms of neurological disorder and disorder of the respiratory system, cognitive impairment and delay in speech development, subclinical epileptiform activity with high risk of epilepsy, and chronic inflammation of the respiratory tract.Conclusion. This case report demonstrates the important role of neonatal screening in early diagnosis and timely start of therapy, and underscores the importance of continuous medication in such genetic disorders as CF and PKU. On the whole, such approach brings about a relative preservation of functioning of the most affected organs and systems. By the age of 5 years the child does not form bronchiectases, shows no signs of chronic hypoxia, nutritional deficiency or pronounced neurologic deficit, and is at low risk for the development of autism spectrum disorder. At the same time, the larger scale and longer-term observations are required in order to make the unequivocal conclusions about the prognosis of these diseases under conditions of modern-day medical follow-up.

Full Mouth Fixed Rehabilitation of a Young Adult with Ectodermal Dysplasia: Making Mountain Out of a Molehill in The Literal Sense

2020 ◽  
Author(s):  
Vaishnavi Rajaraman
Keyword(s):  
Ectodermal Dysplasia ◽  
Treatment Plan ◽  
Sweat Glands ◽  
Congenital Diseases ◽  
Facial Esthetics ◽  
Key Factor ◽  
Full Mouth Rehabilitation ◽  
Fixed Prosthesis ◽  
Multiple Abnormalities ◽  
Hereditary Condition

The personality of an individual is often judged by his looks. A beautiful smile brings immense pleasure, not only to the viewer but also to the wearer of the smile. Time and again in dentistry, esthetics has been the prime area of focus. Prosthodontic rehabilitation also involves esthetics as its key factor, which is challenging especially in patients with congenital diseases or syndromes. Ectodermal dysplasia is one such hereditary condition associated with failure of the development of ectoderm in the embryonic stage and can cause multiple abnormalities. The ectodermal structures like skin, nails, hair, sweat glands, and teeth are particularly affected. The management of ectodermal dysplasia is quite complex and multidisciplinary owing to the abnormal morphology in craniofacial structures, a wide array of dentofacial defects, and age of the affected individuals, as most of them are very young when they report for or are evaluated for treatment. The deciduous as well as the permanent dentition in these patients may present with anodontia, hypodontia or oligodontia or combination of these. Hypodontia is one of the most common intraoral finding among these scenarios. Therefore, the affected patients obviously require absolute attention towards prosthodontic treatments throughout their developmental years till their adulthood. This report presents a case of an adult diagnosed with having ectodermal dysplasia with hypodontia. By appropriate modification and customization, the prosthodontic management was meticulously planned for the young patient which involved a full mouth rehabilitation with tooth supported fixed prosthesis in the maxillary and mandibular arch. The devised treatment plan had a key impact on the psychological, the masticatory function, speech and facial esthetics of the patient.

A Review of Selected Adult Congenital Heart Diseases Encountered in Daily Practice

2020 ◽  
Vol 16 ◽  
Author(s):  
Farhan Bajwa ◽  
Syed M Jafri ◽  
Karthik Ananthasubramaniam
Keyword(s):  
Surgical Procedures ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Daily Practice ◽  
Congenital Heart Diseases ◽  
Congenital Diseases ◽  
Adult Congenital ◽  
The Common ◽  
Adult Congenital Heart Diseases

: The advancement in corrective surgical procedures and anaesthesia technology has resulted in the increase survival of patients with Congenital Heart Diseases (CHD). Most of the surviving CHD patients have successfully reached adulthood and those surviving adults now outnumber the infants born with the CHD. Unfortunately, the surviving adults with CHD do not get proper care due to either inconsistent follow up or not getting care from a specialist in the field of CHD. It is imperative for general practicing clinicians to be aware of the congenital diseases as well as the current clinical recommendations. This manuscript reviews some of the common congenital diseases seen in adults such as cardiac shunts, left heat obstructive lesions and aortopathies.

The Relationship Between The Perception of Elderly’s Health Status and Health Behaviors in Nakhon Nayok Province, Thailand

2019 ◽  
Vol 12 (1) ◽  
pp. 420-423
Author(s):  
Prapada Watcharanat ◽  
Prasong Tanpichai ◽  
Ravee Sajjasophon
Keyword(s):  
Regression Analysis ◽  
Health Status ◽  
Health Behaviors ◽  
Multiple Regression Analysis ◽  
Multiple Regression ◽  
Statistical Significance ◽  
The Elderly ◽  
Cross Sectional ◽  
Congenital Diseases ◽  
The Relationship

Purpose: This research aims to study the relationship between perception of elderly’s health and health behaviors in Nakhon Nayok province, Thailand Methods: This research was a cross-sectional study. The questionnaire was used to collect the data. This research was conducted in Nakhon Nayok province. The sample size was 270 which applied Taro Yamane's formula at a significant level 0.05. The descriptive statistics was implemented to describe the variables by presenting the frequency, percentage, mean and standard deviation. Furthermore, multiple regression analysis was applied to analyze the relationship between perception of elderly’s health and health behaviors. The statistical significance was considered to reject Hypothesis-null at < 0.05. Results: From a total of 270 people, more than 58.22% of the elderly perceived that they had moderate health conditions. Most elderly had congenital diseases (62.2%). The multiple regression analysis results showed that health status perception and health status perception when compared to their cohort related significantly to health behavior. Conclusion: The government should support the elderly on participation, trust, engagement, and cultural concern of the people in the community, which can contribute to promoting the physical, mental and social condition of the elderly.

Chromosome Constitutions of Ten Cases with Congenital Diseases

1963 ◽  
Vol 39 (5) ◽  
pp. 310-313
Author(s):  
Sajiro MAKINO ◽  
Kiyomi YAMADA ◽  
Toshio SOFUNI ◽  
Masamichi KOBAYASHI
Keyword(s):  
Congenital Diseases

scholarly journals Signaling Control of Mucociliary Epithelia: Stem Cells, Cell Fates, and the Plasticity of Cell Identity in Development and Disease

2021 ◽  
pp. 1-18
Author(s):  
Peter Walentek
Keyword(s):  
Stem Cells ◽  
Mucociliary Clearance ◽  
Cell Types ◽  
Secretory Cells ◽  
Chronic Obstructive ◽  
Cell Identity ◽  
Obstructive Pulmonary Disease ◽  
Congenital Diseases ◽  
Inhaled Particles ◽  
Mucociliary Epithelia

Mucociliary epithelia are composed of multiciliated, secretory, and stem cells and line various organs in vertebrates such as the respiratory tract. By means of mucociliary clearance, those epithelia provide a first line of defense against inhaled particles and pathogens. Mucociliary clearance relies on the correct composition of cell types, that is, the proper balance of ciliated and secretory cells. A failure to generate and to maintain correct cell type composition and function results in impaired clearance and high risk to infections, such as in congenital diseases (e.g., ciliopathies) as well as in acquired diseases, including asthma, chronic obstructive pulmonary disease (COPD), and idiopathic pulmonary fibrosis (IPF). While it remains incompletely resolved how precisely cell types are specified and maintained in development and disease, many studies have revealed important mechanisms regarding the signaling control in mucociliary cell types in various species. Those studies not only provided insights into the signaling contribution to organ development and regeneration but also highlighted the remarkable plasticity of cell identity encountered in mucociliary maintenance, including frequent trans-differentiation events during homeostasis and specifically in disease. This review will summarize major findings and provide perspectives regarding the future of mucociliary research and the treatment of chronic airway diseases associated with tissue remodeling.

scholarly journals Current Status of Zika Virus Vaccines: Successes and Challenges

Vaccines ◽  
2020 ◽  
Vol 8 (2) ◽  
pp. 266 ◽  
Author(s):  
Aryamav Pattnaik ◽  
Bikash R. Sahoo ◽  
Asit K. Pattnaik
Keyword(s):  
Zika Virus ◽  
Viral Infections ◽  
Current Status ◽  
Effective Vaccine ◽  
Congenital Diseases ◽  
Vaccine Candidates ◽  
Efficacy Trials ◽  
Nucleic Acid Vaccines ◽  
Funding Agencies ◽  
Inactivated Vaccines

The recently emerged Zika virus (ZIKV) spread to the Americas, causing a spectrum of congenital diseases including microcephaly in newborn and Guillain-Barré syndrome (GBS) in adults. The unprecedented nature of the epidemic and serious diseases associated with the viral infections prompted the global research community to understand the immunopathogenic mechanisms of the virus and rapidly develop safe and efficacious vaccines. This has led to a number of ZIKV vaccine candidates that have shown significant promise in human clinical trials. These candidates include nucleic acid vaccines, inactivated vaccines, viral-vectored vaccines, and attenuated vaccines. Additionally, a number of vaccine candidates have been shown to protect animals in preclinical studies. However, as the epidemic has waned in the last three years, further development of the most promising vaccine candidates faces challenges in clinical efficacy trials, which is needed before a vaccine is brought to licensure. It is important that a coalition of government funding agencies and private sector companies is established to move forward with a safe and effective vaccine ready for deployment when the next ZIKV epidemic occurs.

scholarly journals Myosinome: A Database of Myosins from Select Eukaryotic Genomes to Facilitate Analysis of Sequence-Structure-Function Relationships

2012 ◽  
Vol 6 ◽  
pp. BBI.S9902 ◽  
Author(s):  
Divya P. Syamaladevi ◽  
Margaret S Sunitha ◽  
S. Kalaimathy ◽  
Chandrashekar C. Reddy ◽  
Mohammed Iftekhar ◽  
...  
Keyword(s):  
Conformational Changes ◽  
Atp Hydrolysis ◽  
Homo Sapiens ◽  
Relevant Literature ◽  
Myosin Ii ◽  
Coiled Coil ◽  
Structural Features ◽  
Model Organisms ◽  
Congenital Diseases ◽  
C Elegans

Myosins are one of the largest protein superfamilies with 24 classes. They have conserved structural features and catalytic domains yet show huge variation at different domains resulting in a variety of functions. Myosins are molecules driving various kinds of cellular processes and motility until the level of organisms. These are ATPases that utilize the chemical energy released by ATP hydrolysis to bring about conformational changes leading to a motor function. Myosins are important as they are involved in almost all cellular activities ranging from cell division to transcriptional regulation. They are crucial due to their involvement in many congenital diseases symptomatized by muscular malfunctions, cardiac diseases, deafness, neural and immunological dysfunction, and so on, many of which lead to death at an early age. We present Myosinome, a database of selected myosin classes (myosin II, V, and VI) from five model organisms. This knowledge base provides the sequences, phylogenetic clustering, domain architectures of myosins and molecular models, structural analyses, and relevant literature of their coiled-coil domains. In the current version of Myosinome, information about 71 myosin sequences belonging to three myosin classes (myosin II, V, and VI) in five model organisms ( Homo Sapiens, Mus musculus, D. melanogaster, C. elegans and S. cereviseae) identified using bioinformatics surveys are presented, and several of them are yet to be functionally characterized. As these proteins are involved in congenital diseases, such a database would be useful in short-listing candidates for gene therapy and drug development. The database can be accessed from http://caps.ncbs.res.in/myosinome .

Congenital diseases of the gallbladder and bile ducts

1976 ◽  
Vol 11 (4) ◽  
pp. 235-243 ◽  
Author(s):  
Philip M. Hatfield ◽  
Francis J. Scholz ◽  
Robert E. Wise
Keyword(s):  
Bile Ducts ◽  
Congenital Diseases
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