scholarly journals Glycogenosis type IX in a 9-year-old child

2017 ◽  
Vol 63 (2) ◽  
pp. 139-142
Author(s):  
Nina V. Bolotova ◽  
Andrey P. Averyanov ◽  
Natalia Yu. Filina ◽  
Ekaterina Yu. Zaharova ◽  
Maria A. Melikyan ◽  
...  
Keyword(s):  
Corn Starch ◽  
Hereditary Diseases ◽  
Heterozygous Mutation ◽  
Pediatric Endocrinology ◽  
Strict Adherence ◽  
Genetics Research ◽  
Comprehensive Examination ◽  
Genetic Examination ◽  
Glycogenosis Type ◽  
Phka2 Gene

Since the age of 1 year, a child presented with hypoglycemic conditions accompanied by ketosis as well as periodic hyperglycemia, for which reason he was hospitalized to the Pediatric Endocrinology Department of the Mirotvortsev Saratov Clinical Hospital. At the hospital, the child underwent a comprehensive examination that excluded diseases such as hyperinsulinism and diabetes mellitus. In the Laboratory of Hereditary Diseases of Metabolism of the Medical Genetics Research Center, a hemizygotic mutation in the PHKA2 gene (glycogenosis type IX) was detected. The mother was also detected with the heterozygous mutation c.226G>A (p.E76K in the PHKA2 gene). Based on the results of the genetic examination of the child and mother, the patient was finally diagnosed with glycogenosis type IX. The patient was put on an individualized protein diet avoiding edible sugar and fatty foods; corn starch (30 g every 6 h and overnight) was recommended. Strict adherence to the diet resulted in less frequent seizures and decreased severity of episodes.

scholarly journals Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene

2020 ◽  
Vol 8 ◽  
Author(s):  
Jie Wang ◽  
Huan Li ◽  
Min Sun ◽  
Ying Yang ◽  
Qianli Yang ◽  
...  
Keyword(s):  
Oxidative Phosphorylation ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Clinical Laboratory ◽  
Clinical Manifestations ◽  
Hereditary Diseases ◽  
Exercise Intolerance ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Homozygous Mutation

Mitochondrial diseases constitute a group of heterogeneous hereditary diseases caused by impairments in mitochondrial oxidative phosphorylation and abnormal cellular energy metabolism. C1QBP plays an important role in mitochondrial homeostasis. In this study, clinical, laboratory examinations, 12-lead electrocardiographic, ultrasonic cardiogram, and magnetic resonance imaging data were collected from four members of a Chinese family. Whole exome were amplified and sequenced for the proband. The structure of protein encoded by the mutation was predicted using multiple software programs. The proband was a 14-year old boy with myocardial hypertrophy, exercise intolerance, ptosis, and increased lactate. His 9-year old brother exhibited similar clinical manifestations while the phenomenon of ptosis was not as noticeable as the proband. The onset of this disease was in infancy in both cases. They were born after uneventful pregnancies of five generation blood relative Chinese parents. A homozygous mutation (Leu275Phe) in the C1QBP gene was identified in both brothers in an autosomal recessive inherited pattern. Their parents were heterozygous mutation carriers without clinical manifestations. We demonstrated that a homozygous C1QBP- P.Leu275Phe mutation in an autosomal recessive inherited mode of inheritance caused early onset combined oxidative phosphorylation deficiency 33 (COXPD 33) (OMIM:617713) in two brothers from a Chinese family.

A novel mutation of the PHKA2 gene in a patient with X-linked liver glycogenosis type 1

2005 ◽  
Vol 47 (6) ◽  
pp. 687-690 ◽  
Author(s):  
Fumio Hidaka ◽  
Hirotake Sawada ◽  
Misayo Matsuyama ◽  
Hiroyuki Nunoi
Keyword(s):  
Novel Mutation ◽  
Glycogenosis Type ◽  
Phka2 Gene

scholarly journals Conducting forensic and genetic examination in civil judiciary as an object of constitutional protection

2021 ◽  
pp. 113-118
Author(s):  
V.M. Shkabaro ◽  
A.V. Bila
Keyword(s):  
Molecular Genetic ◽  
Evidence Base ◽  
Legal Regulation ◽  
Hereditary Diseases ◽  
Legal Basis ◽  
Case File ◽  
Constitutional Protection ◽  
Civil Proceedings ◽  
Genetic Examination ◽  
Forensic Genetic

The article is devoted to the study of forensic genetic examination in civil proceedings as an object of constitutional protection, due to the emergence of the concept of forensic examination in general and forensic genetic examination, entities entitled to conduct forensic examinations, analyzing the legal basis of court - genetic examination in Ukraine. Characteristics of the legal basis for recognition of paternity/mother and establishing the fact of paternity/mother are presented. The admissible and appropriate evidence bases in such cases and the place of forensic genetic examination in in the system of evidence that can be involved in the case have been clarified. The features of this examination have been studied, basis to proceed with the molecular genetic examination, the grounds for conducting a molecular genetic examination have been determined, and the issues raised before the expert carrying out the expert research have been singled out. The analysis of judicial practice of consideration of cases on recognition of paternity/maternity and the establishment of the fact of paternity/maternity which is carried out with carrying out forensic genetic examination was carried out. The article analyzes the problematic issues that arise in the process of legal regulation of forensic genetic examination and the practice of applying legislation in this area. The problems of evasion of a party from participation in forensic genetic examination, namely, non-appearance at a certain time to participate in the examination, failure to provide materials for expert research and the legal consequences of such evasion for all participants in the case. This article offers ways to solve problematic aspects of the research. The conclusions on the application by the courts of the results of forensic genetic examination during the consideration of cases on recognition of paternity/maternity, establishment of the fact of paternity/maternity were generalized and made. Forensic genetic examination is an individual identify. This type of examination allows not only to categorically exclude paternity, but also to carry out the origin of the child from both parents due to blood relationship (identification), as well as the diagnosis of hereditary diseases in the fetus in the early stages of pregnancy. Conducting such an examination is an effective mechanism of constitutional protection, because the facts established as a result of the examination form the basis of the evidence base are considered in conjunction with other evidence available in the case file.

scholarly journals SUN-028 Concomitant Mutations in the POR and AR Genes in a Boy Presenting with Micropenis and Premature Adrenarche

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Eleni Dermitzaki ◽  
Emmanouil Manolakos ◽  
Kleanthis Kleanthous ◽  
George Mastorakos ◽  
Dimitrios T Papadimitriou
Keyword(s):  
Androgen Receptor ◽  
Bone Age ◽  
Hydroxysteroid Dehydrogenase ◽  
Heterozygous Mutation ◽  
Pediatric Endocrinology ◽  
Coding Region ◽  
Hydroxylase Deficiency ◽  
Androgen Synthesis ◽  
Sex Development ◽  
Premature Adrenarche

Abstract Background: Micropenis is caused either by a defect in androgen synthesis, conversion to Dihydrotestosterone, or action due to mutant androgen receptor. Premature adrenarche is caused by excess of adrenal androgens. Clinical case: A 6,5-year-old boy presented to our pediatric endocrinology clinic due to increased body weight and hyperthyreotropinemia. Physical examination revealed premature adrenarche with testicular volume 1,5 ml, micropenis (4cm, <-2 SDS) and acanthosis nigricans. His linear growth presented an acceleration the last 2 years from +0.85 to +1.81 SD and his bone age was advanced by 2 years with a statural height at -0.5 SD, not in accordance with the mean parental height (+0.90 SD). At the same time, his BMI was increased from +1,36 to +3,64 SDS. Laboratory investigations for premature adrenarche with synacthen test revealed mild elevation of compound-S 15,4 ng/dl at 60’, which could be theoretically attributed to partial 11-β-hydroxylase deficiency (CYP11B1). DHEA was also elevated 2,1 ng/ml with an increased DHEA/Δ4 ratio at 20 (normal < 10) which could be explained in the case of partial 3-β-Hydroxysteroid dehydrogenase deficiency. Method: Whole exome sequencing was preformed targeted to a gene panel related to premature adrenarche. Results: A heterozygous mutation c.[1174C>T]+[1174C>T]; p.[Pro329Ser]+[Pro329Ser] in exon 1 in Androgen Receptor (AR) gene (X-linked) was found to the patient and his mother. The mutation, according to Human Gene Mutation Database, can cause disorder of sex development (DSD), partial androgen insensitivity syndrome (PAIS), infertility and hypospadias. Additionally, sequencing of the coding region of the P450 oxyreductase (POR) gene revealed a heterozygous mutation c.[642-5C>G] in exon 7, which in homozygosity can cause steroidogenesis disorder due to oxyreductase deficiency. This heterozygous POR mutation was found to the patient and his father. Discussion: Our patient caries mutations in the AR and in POR genes. The AR mutation is obviously responsible for micropenis in our patient. CYP11B1 and 3β-Hydroxysteroid dehydrogenase genes were normal. POR deficiency is a disorder of steroidogenesis with phenotypic spectrum ranging from PCOS to ambiguous genitalia and glycocorticosteroid deficiency or even to classic Antley-Bixler syndrome (1). Conclusion: The genetic and hormonal results in our case imply a role for POR in the CYP11B1 gene expression, which is reported for the first time to our knowledge. 1. Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche. J Clin Endocrinol Metab. 2010 Jul; 95(7): 3418-3427

Examination of Condition of Historical Transparent Structures of the Pushkin State Museum of Fine Arts

2020 ◽  
pp. 63-69 ◽  
Author(s):  
Alexander V. Spiridonov ◽  
Nina P. Umnyakova ◽  
Boris L. Valkin
Keyword(s):  
Cultural Heritage ◽  
Fine Arts ◽  
Comprehensive Examination ◽  
State Museum ◽  
Museum Of Fine Arts

The article describes the results of the second part of examination related to transparent structures of the Pushkin State Museum of Fine Arts: the lantern lights. The structures are cultural heritage of federal importance and are subject to state preservation. Based on the results of comprehensive examination, the conclusions were made that these structures are in unsatisfactory condition and materials were prepared for development of recommendations concerning their restoration.

REGULARITIES OF THE PREPARATION OF RUSSIAN ENTERPRISES FOR CERTIFICATION OF COMPLIANCE WITH ISO 9000 SERIES

2019 ◽  
Vol 6 (3) ◽  
pp. 54-60
Author(s):  
Mikhail Jurievich Rudiuk ◽  
Anastasiia Vladislavovna Gerasimova ◽  
Ekaterina Mikhailovna Pomozova
Keyword(s):  
Quality Management ◽  
Iso 9000 ◽  
World Market ◽  
Practical Significance ◽  
Management Systems ◽  
Quality Management Systems ◽  
Strict Adherence ◽  
The World ◽  
Legislative Framework ◽  
Current Stage

The authors' task was to analyze the development of quality management systems at the current stage in Russia, as well as at the previous stage in the USSR. As a result, we came to the conclusion that the factors stimulating the implementation of ISO 9000 standards are the need to promote products on the world market, as well as the possibility of receiving orders from the state. In the future, strict adherence to these standards will allow enterprises to significantly reduce the likelihood of lawsuits from consumers, which is important in the context of the development of the legislative framework and increased control over the business. The practical significance of the article is the possibility of familiarizing management and personnel with quality services, whose task is to prepare for certification for compliance with ISO 9000 standards in how this process took place in other companies. The originality of this work is to summarize the experience of implementation of ISO 9000 standards at enterprises and to analyze the factors contributing to or hindering this process.

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