scholarly journals The prevalence of various clinical forms of the disease and variants of CYP21A2 gene mutations in congenital adrenal cortical dysfunction in children and adolescents in the Republic of Tatarstan

Author(s):  
M. R. Shaydullina ◽  
A. S. Sultanova ◽  
D. A. Khabibullina ◽  
A. N. Zamalova

Сongenital adrenal hyperplasia (CAH) – is one of the versions of inherited enzymopathy. If it was dedected too late, that can lead not only to some fatal consequences, but to patient’s death as well. Neonatal screening of CAH allows to detect the desease promtly and start an immediate therapy in order to prevent difficult complications of the desease and patient’s disablement.Aim: Analisys of the frequency of CAH case rate within children in the Republic of Tatarstan (RT) after neonatal screening and also prevalence rate of different clinic forms of empairments and types of gene CYP21A2’s mutations.Methods: Reports of the results of CAH screening by medicogenetic service in RT were analysed. Information about children born, detected cases of CAH was taken from statistic form № 12 “Information on the number of diseases, detected within patient residing in the service area of medical organization, Rosstat” during 2006–2018yrs. Materials for analysis of health clinic of children’s CAH were case histories of patient, observed in endocrinology department of GAUZ “Republican children clinic hospital” Ministry of Health of The Republic of Tatarstan (DRKB MZ RT). Molecular-genetic researches were conducted on the basis of Federal state budgetary institution “National medical center for endocrinology” of the Russian ministry of Health. (FGBU “NMIC of endocrinology) of The Russian ministry of Health) with the support of “Alfa Endo” program CAF charity foundation.Results: During 2007–2017 yrs. according to the results of neonatal screening 32 children with CAH were detected. The case rate ranged from 1:5054 to 1:56 598 newborn. The maximum of the disease case in RT was detected in 2016 (11 children). With 24 children molecular-genetic analysis was conducted, as a result 24 gene CYP21A2’s mutations were detected in homo- and heterozygotic state. The most widely spread mutation turned to be 12spl, which was found in 45,8% of cases.Conclusion: Conducted analysis confirms the necessity of the further study of the CAH case rate distinctions in different areas and cities of RT, and also upgrade of the organization and performance of the neonatal screening.

2021 ◽  
pp. 6-10
Author(s):  
Oksana A. Gizinger

The pathogenetic rationale for the use of «Prolom Voda» produced in the Republic of Serbia is presented. Research conducted at the accredited testing center of natural healing resources of the Federal State Budgetary Institution «Russian Scientific Center for Restorative Medicine and Balneology» of the Ministry of Health of Russia 9 accreditation certificate No. pH in the alkaline range.


2021 ◽  
Vol 16 (4) ◽  
pp. 19-27
Author(s):  
Ekaterina A. Troshina ◽  
Evgeniya S. Senyushkina ◽  
Natalya P. Makolina ◽  
Fatima M. Abdulkhabirova ◽  
Larisa V. Nikankina ◽  
...  

Background: The article presents the results of a control and epidemiological study conducted in September 2020 by specialists of the Federal State Budgetary Institution «NMIC of Endocrinology» of the Ministry of Health of Russia, aimed at assessing the current state of iodine provision in the population of the Republic of Crimea. The study in Crimea is part of a number of activities and work carried out on behalf of the Ministry of Health of the Russian Federation within the framework of state assignments «Scientific assessment of the need for additional regulatory legal and other measures to eliminate iodine deficiency in pilot regions with severe iodine deficiency» and «Epidemiological and molecular-cellular characteristics of tumor, autoimmune and iodine deficiency thyropathies as a basis for prevention of complications and personalization of treatment.The data obtained reflect the state of the problem of iodine consumption on the territory of the Crimean Peninsula and indicate the relevance of the adoption of a regional preventive program aimed at eliminating iodine deficiency in the diet of the population and related diseases.Aim: Assessment of iodine supply of the population of the Republic of CrimeaMaterials and methods: The research was carried out in secondary schools of four districts of the Republic of Crimea — in the years. Simferopol, Belogorsk, Bakhchisarai and Saki.The volume of the study — 356 schoolchildren of 8-10 years old, all were completed: taking anamnesis and anthropometric parameters (height, weight), examination by an endocrinologist with palpation of the thyroid gland (thyroid gland), ultrasound examination of the thyroid gland (thyroid ultrasound), obtaining single portions of urine and samples of table salt (5-10 grams), which is used daily in the diet in their families. The measurements of the height and weight of the children by the standard method were carried out during the examination by a specialist. Thyroid ultrasound was performed in the supine position using a portable LOGIQe ultrasound machine (China) with a 10-15 MHz multifrequency linear transducer. All urine samples (n = 356) in disposable Eppendorf microtubes were immediately frozen at a temperature of minus 20-25°! for further determination of the concentration of iodine in urine using the cerium-arsenite method (based on the clinical diagnostic laboratory of the Federal State Budgetary Institution NMITs endocrinology «of the Ministry of Health of Russia). A qualitative study for the presence of potassium iodate in food table salt samples (n = 203) was carried out on site by the express method.Informed consent was obtained from all parents / guardians of children for the examination and processing of personal data. The permission of the local ethical committee of the Federal State Budgetary Institution «NMIC of Endocrinology» of the Ministry of Health of Russia was received on March 25, 2020, No. 5.Results: According to the results of a survey of 356 children of primary school age, the median concentration of iodine in urine (mCIM) is 97 pg / l and varies from 78 to 98 pg / l in the surveyed areas, the proportion of urine samples with a reduced iodine concentration was 51.2%. The share of iodized salt use in the families of schoolchildren was 12.3% (values range from 10% to 15%). The average incidence of goiter in children according to ultrasound data is 9.5% (range of values from 1.7% to 16.3%).Conclusion.The indicator of the median concentration of iodine in urine indicates an insufficient iodine supply of the population of the Republic of Crimea.The prevalence of goiter in children of primary school age according to the ultrasound examination of the thyroid gland corresponds to the mild severity of iodine deficiency in the mild degree of goiter endemic in the region.The share of households using iodized salt is extremely low and amounts to 12.3%, which does not meet the WHO recommendations for regions with natural iodine deficiency (from 90% or more).


2020 ◽  
Vol 19 (3) ◽  
pp. 50-53
Author(s):  
S. G. Mann ◽  
E. V. Raikina ◽  
I. M. Yunusova

Hemoglobinopathies are a group of hereditary hemolytic anemias common in the countries of the Mediterranean, Southeast Asia and Africa, where malaria was previously common. Due to population migration and an increase in the number of mixed marriages, hemoglobinopathies are also relevant to Russia. Among the Russian Federation's subjects, the Republic of Dagestan is the most endemic region for the incidence of hemoglobinopathies. This study aimed to identify the spectrum of mutations in patients with hemoglobinopathies living in the Republic of Dagestan. The research was approved by Independent ethic committee and the academic board of Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology (Moscow, Russia). Material from 100 patients was sent for molecular genetic research to the Laboratory of Molecular Biology, Federal State Budget Scientific Institution Scientific Research Center for Surgery named after Dmitry Rogachev. Genetic variants of the genes of the a- and b-globin clusters were determined using multiplex ligase-dependent amplification of samples and Sequencing by the Sanger method. Eighteen genetic variants with different frequencies were detected. The mutation frequency of the b-globin cluster was 62.5%, the a-globin cluster was 23.2%, and the variants leading to the appearance of abnormal hemoglobin were 14.3%. The five most common genetic variants among this cohort were also identified: CD8(-AA) and IVSI-110 (G>A), -(a) 3.7 and -(a) 20.5 and the CD6 variant GAG>GTG [Glu>Val] leading to abnormal hemoglobin S.


2002 ◽  
Vol 6 (25) ◽  
Author(s):  
A C de Benoist

On 12 June 2002, the Ministry of Health of the Republic of Congo reported six suspected cases, including five deaths, of acute haemorrhagic fever syndrome in Mbomo district, near the Gabonese border (1). The first cases occurred in a group of people who had been working in a gold mining camp in a forest south of Oloba. It seems that they may have been exposed to the same source, a chimpanzee found dead in the forest.


2020 ◽  
pp. 26-35
Author(s):  
Sergey Babanov

Diseases of the kidneys and urinary tract, primarily of toxic and chemical etiology, constitute a large proportion of occupational diseases. Various production factors of both chemical and physical nature can cause the development of nephropathies. Sergey Babanov, Doctor of Medicine, Professor, Head of the Department of occupational diseases and clinical pharmacology at the Federal State-Funded Educational Institution of Higher Education Samara State Medical University of the Ministry of Health of the Russian Federation, chief freelance specialist in occupational pathology at the Ministry of Health of the Samara region, speaks about occupational diseases of the kidneys and urinary tract associated with the exposure to chemical and physical factors.


2018 ◽  
Vol 3 (1) ◽  
pp. 34
Author(s):  
Widhi Setyo Putro

This article discusses the national consensus between the Republic of Indonesia (RI) and the Bijeenkomst voor Federaal Overleg (BFO) which embodied in the 1949 Inter-Indonesia Conference. Using conflict and consensus theory of Ralf Dahrendorf, this article seeks to understand the conflicts of interest background and the process towards a consensus between RI and BFO. The conflict between RI and BFO motivated by the Dutch aimed to control Indonesia. One of his efforts was to divide the Indonesian nation by forming states, which led to a conflict between the Republicans (Republicans) who supported the united state, and the federalists (BFO) in favor of the federal state. The study found that the Dutch federal policy was not entirely a success because the federalists which incorporated in BFO was not affected. The conflict between the Republican and federalists subsided with the implementation of the Goodwill Mission and the sending of the BFO Liaison Commission to meet Indonesian leaders detained after the Dutch Military Aggression II. The summit was a national consensus between RI and BFO, it embodied in the Inter-Indonesia Conference in 1949 which took placed at Yogyakarta and Jakarta. They reached a consensus by agreeing on fundamental issues as the identity of a sovereign state, such as the name of the country, Merah Putih as the official flag, Bahasa Indonesia as the official language, and the Indonesia Raya as the national anthem.


2020 ◽  
Vol 20 (1-2) ◽  
pp. 75-79
Author(s):  
Abdugafor Z. Abdurahmonov

We analyzed the dynamics of congenital cleft lip and palate in children and studied the archival data of the National Medical Center Shifobakhsh (Dushanbe) of the Republic of Tajikistan on the incidence of outpatient visits due to this abnormality in the Republic of Tajikistan over the period from 2009 to 2019. The number of children born with congenital cleft has been increasing for the last ten years. We found out this pathology to develop in families with in-and-in marriage, it also depends upon the sex of a child. Boys are more prone to maxillofacial anomalies.


Author(s):  
Cesar Cuero

<p>La Academia Panameña de Medicina y Cirugía, se siente honrada, en resaltar la figura de uno de sus miembros distinguidos, el Académico Titular José Manuel Fábrega Sosa, MD, FACS, FSSO, APMC. Este distinguido cirujano, panameño, hizo sus estudios profesionales en la Universidad de Notre Dame, Notre Dame, Indiana donde se graduó con honores siendo miembro de la Sociedad de honor AlphaEpsilonDelta. Continuó sus estudios de medicina en la George Washington University School of Medicine, Washington, DC., donde obtuvo el grado de Medicina, graduándose también con honores siendo nombrado en la Sociedad de Honor de Medicina de los Estados Unidos, AlphaOmegaAlpha. Hizo su residencia en cirugía en el New York Hospital Cornell Medical Center y en Oncología Quirúrgica en el Memorial Sloan Kettering Cancer Center de Nueva York. Ha sido Certificado y Recertificado por el American Board of Surgery. Fellow y ExGobernador del American College of Surgeons y Ex Presidente del Capítulo de Panamá del American College of Surgeons. Además de Fellow de la Society of Surgical Oncology. A nivel local, entre otros es Ex Presidente de la Academia Panameña de Medicina y Cirugía. Y Profesor Extraordinario de Cirugía, de la Facultad de Medicina, de la Universidad de Panamá. Presidente y miembro fundador de la Asociación Panameña de Cirugía Oncológica (APCO). Aparte de tener licencia en la República de Panamá, tiene licencia del estado de California y de Washington DC en los Estados Unidos. Recientemente, ha sido merecedor a un reconocimiento, reservado para pocos cirujanos destacados, en el mundo, ser reconocido como Honorary Fellow del American College of Surgeons (Colegio Americano de Cirujanos), luego de 43 años de brindar sus conocimientos para el cuidado y bienestar de sus pacientes. Cabe destacar que al presente Solo hay 487 cirujanos en el mundo entero que han recibido tal distinción. El Colegio Americano de Cirujanos otorga este honor cada año, a cuatro o cinco candidatos que han prestado servicios humanitarios, especialmente en el campo de la ciencia médica. Es el tercer panameño en recibir este reconocimiento; el primero en ser distinguido fue el doctor Augusto S. Boyd, en 1923; luego el neurólogo Antonio González Revilla, en 1973. La universidad de Cornell, de donde egresó, lo declaró exalumno meritorio y es el único egresado en recibir esa distinción. En Panamá; la Asamblea Nacional lo reconoció como ciudadano ejemplar y meritorio y el presidente de la república lo condecoró con la Orden Manuel Amador Guerrero en el “Grado de Gran Cruz”. Honrar, honra, y la Academia Panameña de Medicina y Cirugía, y La Revista Médica de Panamá, se enorgullecen de presentar a este ilustre panameño y latinoamericano.</p><p>ABSTRACT</p><p>The Panamanian Academy of Medicine and Surgery is honored to highlight the figure of one of its distinguished members, the Tenured Academician José Manuel Fábrega Sosa, MD, FACS, FSSO, APMC. This distinguished Panamanian surgeon did his professional studies at the University of Notre Dame, Notre Dame, Indiana where he graduated with honors as a member of the AlphaEpsilonDelta Honor Society. He continued his medical studies at the George Washington University School of Medicine, Washington, DC., Where he obtained a degree in Medicine, also graduating with honors and being named in the American Honor Society of Medicine, AlphaOmegaAlpha. He did his residency in surgery at New York Hospital Cornell Medical Center and in Surgical Oncology at Memorial Sloan Kettering Cancer Center in New York. He has been Certified and Recertified by the American Board of Surgery. Fellow and Former Governor of the American College of Surgeons and Former President of the Panama Chapter of the American College of Surgeons. In addition to Fellow of the Society of Surgical Oncology. At the local level, among others, he is Former President of the Panamanian Academy of Medicine and Surgery. And Extraordinary Professor of Surgery, Faculty of Medicine, University of Panama.</p><p>President and founding member of the Panamanian Association of Oncological Surgery (APCO). Apart from being licensed in the Republic of Panama, it is licensed by the state of California and Washington DC in the United States. Recently, he has been worthy of a recognition, reserved for few outstanding surgeons, in the world, being recognized as Honorary Fellow of the American College of Surgeons (American College of Surgeons), after 43 years of providing his knowledge for the care and well-being of your patients. It should be noted that there are currently only 487 surgeons worldwide who have received such a distinction. The American College of Surgeons awards this honor each year to four or five candidates who have provided humanitarian services, especially in the field of medical science. He is the third Panamanian to receive this recognition; the first to be distinguished was Dr. Augusto S. Boyd, in 1923, then the neurologist Antonio González Revilla, in 1973. Cornell University, where he graduated, declared him a meritorious alumnus and is the only graduate to receive that distinction. In Panama, the National Assembly recognized him as an exemplary and meritorious citizen and the President of the Republic decorated him with the Manuel Amador Guerrero Order in the “Grand Cross Degree”. Honor, honor, and the Panamanian Academy of Medicine and Surgery, and La Revista Médica de Panama, are proud to present this illustrious Panamanian and Latin American.</p>


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