scholarly journals Werner mesomelic dysplasia

2018 ◽  
Vol 6 (4) ◽  
pp. 92-97
Author(s):  
Evgeniia A. Kochenova ◽  
Olga E. Agranovich ◽  
Svetlana I. Trofimova ◽  
Anna P. Nikitina
Keyword(s):  
Clinical Case ◽  
Regulatory Element ◽  
Molecular Genetic ◽  
Hip Dislocation ◽  
Preaxial Polydactyly ◽  
Mesomelic Dysplasia ◽  
Dominant Disease ◽  
Genetic Examination ◽  
Hands And Feet ◽  
Nasal Defects

Introduction. The term “mesomelic dysplasia” refers to a group of disorders wherein limb shortening is most pronounced in the middle segment (forearm and leg) of the extremities. Werner mesomelic dysplasia is characterized by absence or hypoplasia of the tibia, preaxial polysyndactyly on the hands and feet, as well as by triphalangeal thumbs, absence of a patella, and fibular bone dislocation. Molecular genetic causes of the disease are mutations at position 404 of the regulatory element (ZRS) of the SHH gene in the LMBR1 gene (OMIM 188740). Clinical case. A girl with triphalangeal thumbs and polydactyly of the hands, right hip dislocation, tibia hypoplasia, fibular dislocation on both sides, and preaxial polydactyly of the feet was examined and treated at the age of 1 year. Considering the clinical and radiological picture, the girl was diagnosed with Werner mesomelic dysplasia. To verify the disease, a molecular genetic examination of the child was performed. A variant of replacement of 230 T > C in the regulatory element of the ZRS of the SHH gene was discovered in the literature. Discussion. Differential diagnosis can be made with Laurin-Sandrow syndrome, which is characterized by doubling of the ulna and fibula with the absence of the radius and tibia and preaxial polydactyly/syndactyly of the hands and feet. The presence of nasal defects (particularly involving the columella) distinguishes this condition from other syndromes, which was not shown in this clinical observation. Conclusion. We report the clinical case of an autosomal-dominant disease, Werner mesomelic dysplasia, which is a rare pathology with a typical clinical picture combined with congenital hip dislocation, which was not previously described. The molecular genetic examination confirms the presence of a pathogenic variant of the ZRS element of the SHH gene, which causes the development of Werner’s mesomelic dysplasia, but the mutation variant was not registered before, which requires an additional examination of the child’s relatives.

scholarly journals Retinal abiotrophy in mitochondrial pathology: NARP sindrome (a clinical case)

2019 ◽  
Vol 12 (1) ◽  
pp. 97-101
Author(s):  
O. V. Khlebnikova ◽  
I. V. Sharkova
Keyword(s):  
Genetic Risk ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Diagnostic Feature ◽  
Hereditary Syndromes ◽  
Atpase Gene ◽  
The Family ◽  
Mitochondrial Pathology ◽  
Genetic Examination

Purpose: to present a clinical case of retinal abiotrophy in mitochondrial pathology (NARP syndrome) caused by the mutation m.8993T>G in the ATPase gene type 6 in order to improve the diagnosis of hereditary abiotrophies. Material and methods. The results of a clinical molecular genetic examination of the patient’s family, undertaken in order to clarify the diagnosis and determine the genetic risk, are presented. The family was found to have an isolated pathology of the eye. Results. DNA studies by MLPA method and the analysis of clinical data in the family revealed a hereditary syndromic pathology which caused changes in the eyes. The inheritance type was found to be maternal. Conclusion. NARP syndrome is a syndrome with the maternal type of inheritance in which retinal abiotrophy is primarily associated with the mutation m.8993T>G mtDNA and can be considered as the main diagnostic feature among other clinical manifestations. The case demonstrates the difficulties of diagnosing hereditary syndromes accompanied by eye pathology.

scholarly journals A clinical case of neonatal diabetes caused by INS gene mutation

2019 ◽  
Vol 22 (2) ◽  
pp. 170-176
Author(s):  
Rosa A. Atanesyan ◽  
Tatyana A. Uglova ◽  
Tatyana M. Vdovina ◽  
Leonid Ya. Klimov ◽  
Marina U. Kostanova ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Genetic Diagnosis ◽  
Gene Mutations ◽  
Neonatal Diabetes ◽  
Compound Heterozygous ◽  
Pancreatic Cell ◽  
Cell Dysfunction ◽  
Genetic Examination

Neonatal diabetes mellitus (NDM) is a severe endocrine pathology diagnosed in children during the first months of life. It comprises rare (1:300 0001:400 000 newborns) metabolic disorders with postnatal pancreatic -cell dysfunction, manifested by hyperglycaemia and hypoinsulinaemia. It is currently established that molecular genetic diagnosis of neonatal diabetes forms can influence treatment and prognosis. Interestingly, most identified mutations in the insulin gene are not inherited, but are sporadic. There is evidence that, in addition to heterozygous INS mutations, NDM can be caused by homozygous or compound-heterozygous mutations. The present article presents the clinical case of a girl with NDM associated with an INS gene mutation. INS gene mutations cause permanent diabetes and require children to undergo genetic examination, especially patients with type 1 diabetes in the absence of antibodies. Currently, there are no data that allow to determine a phenotypic and genotypic portrait of NDM forms or to explain the factors determining their occurrence. Further studies of clinical cases of neonatal diabetes are therefore required to determine the characteristics of NDM subtypes with subsequent disease prognosis.

Clinical application of polymorphic variants of the genes ESR1 and CYP2D6*4 in patients with breast and endometrial cancer

2017 ◽  
pp. 132-138
Author(s):  
O.V. Paliychuk ◽  
◽  
L.Z. Polishchuk ◽  
Z.I. Rossokha ◽  
◽  
...  
Keyword(s):  
Breast Cancer ◽  
Endometrial Cancer ◽  
Hormone Therapy ◽  
Molecular Genetic ◽  
Cancer Syndrome ◽  
Genetic Characteristics ◽  
Multiple Tumors ◽  
Receptor Status ◽  
Genetic Examination ◽  
The Impact

The objective: determining gene polymorphism features ERS1, CYP2D6 in patients with breast cancer (RHZ) and endometrial cancer (EC) and the impact assessment studied genetic characteristics compared to receptor status (immunohistochemical determination of expression levels of ER, PR) tumors and the results of the treatment. Patients and methods. article presents the results of complex clinical, morphological, clinical-genealogical, and molecular-genetic examination of 28 females: 19 patients with breast cancer (BC), 9 patients with endometrial cancer (EC), including 5 patients with primary-multiple tumors (PMT) with and without tumor pathology aggregation in families. Results. The It was determined that in patients’ families malignant tumors of breast, uterine body and/or ovaries prevail that corresponds to Lynch type II syndrome (family cancer syndrome). Molecular-genetic examination of genomic DNA of peripheral blood and histological sections for the presence of SNPs of ESR and CYP2D6*4 genes comparing with the results of immunohistochemical study of tumors for receptors ER and PR status have not found associations between these characteristics; although among EC patients the occurrence of genotypes 397ТТ and 351АА was significantly higher comparing with BC patients (55.55% and 10.5% for genotype 397ТТ,and 15.8% for genotype 351АА, respectively). At the same time the patients with BC and primary-multiple tumors (PMT) of female reproductive system organs (FRSO) that carried mutations in BRCA1 in all the cases demonstrated positive ER and PR receptor status and adverse combinations of polymorphous variants of the genes ESR1 (397СС, 397ТС) and CYP2D6*4 (1846G, 1846GA), suggesting combined effect of these factors on the development of malignant neoplasias of FRSO in families with positive family cancer history. In BC patients, receiving standard hormone therapy with tamoxifen, those, who had genotype 1846GG of the gene CYP2D6*4, in 3 patients (15.8%) of 19 (100%) patients disease recurrence was diagnosed. Conclusion. The obtained results allow clinical use of the assessment of polymorphism frequency of the genes ESR1 and CYP2D6*4 for selection of individual hormone therapy regimens schemes for BC patients, to increase efficacy of dispensary observation after finishing of special therapy for such patients, and also personalization of complex and combined treatment regimens. Key words: breast cancer, endometrial cancer, family cancer syndrome, single nucleotide polymorphisms (SNPs) of the genes ESR1, CYP2D6*4.

Myotonic dystrophy Rossolimo-Churchman-Steinert-Batten (clinical case)

2020 ◽  
pp. 71-72
Author(s):  
И.А. Синельникова ◽  
И.В. Сопрунова ◽  
О.П. Николаева
Keyword(s):  
Case Report ◽  
Myotonic Dystrophy ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Ctg Repeats ◽  
Molecular Genetic Method ◽  
Genetic Method ◽  
Family Case ◽  
Dmpk Gene

В статье представлено описание семейного случая миотонической дистрофии Россолимо-Штейнерта-Куршмана-Баттена. Диагноз подтвержден в результате ДНК-диагностики: выявлено увеличенное число копий CTG-повтора гена DMPK, ответственного за развитие миотонической дистрофии. A family case report of Rossolimo-Steinert-Curschmann myotonic dystrophy is presented. An increased number of copies of CTG-repeats of the DMPK gene responsible for the development of MD, i.e., the diagnosis was confirmed by molecular genetic method.

Phenotypes of professional bronchial asthma from the standpoint of spirometry

2021 ◽  
pp. 43-54
Author(s):  
Antonina G. Baykova ◽  
Marina Yuryevna Vostroknutova ◽  
Natalia A. Ostryakova ◽  
Tatyana Mikhailovna Kiryushina
Keyword(s):  
Comparative Analysis ◽  
Bronchial Asthma ◽  
Clinical Stage ◽  
Molecular Genetic ◽  
Control Group ◽  
Forced Exhalation ◽  
Choice Of Treatment ◽  
Genetic Examination

The aim of the study was to conduct a comparative analysis of spirometric indicators of respiration in various phenotypes of occupational bronchial asthma. Materials and methods. At the clinical stage of the work, a comprehensive clinical, radiological, spirographic, echocardiographic, immunological and molecular genetic examination of 170 patients of the main groups and 50 individuals of the control group was carried out. The results of the study. Dynamic determination of the speed indicators of forced exhalation in various phenotypes of occupational bronchial asthma can improve the diagnosis of obstructive disorders in this pathology, optimize the choice of treatment tactics, and predict the course of this pathology.

scholarly journals Clinical case of myocardial infarction with unspecified familial hypercholesterolemia

2022 ◽  
Vol 17 (4) ◽  
pp. 74-78
Author(s):  
N. G. Lozhkina ◽  
A. N. Spiridonov
Keyword(s):  
Myocardial Infarction ◽  
Familial Hypercholesterolemia ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Clinical Symptoms ◽  
Cholesterol Metabolism ◽  
Single Gene ◽  
Low Density Lipoproteins ◽  
Dominant Disease ◽  
Appropriate Therapy

Familial hypercholesterolemia is a hereditary autosomal dominant disease characterized by a violation of cholesterol metabolism. This nosology was first described in the late 1930s by the Norwegian clinician Karl Moeller, he proposed the idea that hypercholesterolemia and tendon xanthomas are associated with cardiovascular diseases through the inheritance of a single gene. In 1964, two clinical phenotypes of familial hypercholesterolemia were discovered: heterozygous and homozygous, associated with an unfavorable prognosis. To date, it is known that the long-running process of accumulation of low-density lipoproteins in the intima of blood vessels may not have clinical symptoms for many years due to the developed system of collaterals and the absence of hemodynamically significant stenosis. However, without timely diagnosis and appropriate therapy, this condition inevitably leads to the development of a cardiovascular event. The article presents a clinical case demonstrating the development of myocardial infarction in a patient with a late diagnosis of this disease.

An unusual case of preaxial polydactyly of the hands and feet: A case report

2002 ◽  
Vol 27 (3) ◽  
pp. 498-502 ◽  
Author(s):  
Mohammad M. Al-Qattan ◽  
Fuad K. Hashem ◽  
Ali Al Malaq
Keyword(s):  
Case Report ◽  
Unusual Case ◽  
Preaxial Polydactyly ◽  
Hands And Feet

scholarly journals Gaucher disease type 2 (case report)

2020 ◽  
Vol 15 (2) ◽  
pp. 60-64
Author(s):  
D. R. Shagieva ◽  
R. V. Magzhanov ◽  
A. R. Rakhmatullin ◽  
E. V. Sayfullina ◽  
R. G. Musin
Keyword(s):  
Congenital Malformations ◽  
Gaucher Disease ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Clinical Analysis ◽  
Molecular Genetic Analysis ◽  
Oval Window ◽  
Disease Type ◽  
Lysosomal Accumulation

The article describes a rare clinical case of Gaucher disease in a 5 month old girl, confirmed by molecular genetic analysis. In the presented clinical case, there is a onset of lysosomal accumulation disease, which is accompanied by changes in the clinical analysis of blood (anemia, thrombocytopenia), hepatosplenomegaly, congenital malformations (open arterial duct, open oval window) and severe neurologic deficit.

scholarly journals Multimorbidity in Pediatric Dermatology: Clinical Case

2020 ◽  
Vol 19 (6) ◽  
pp. 483-489
Author(s):  
Nikolay N. Murashkin ◽  
Alexander I. Materikin ◽  
Eduard T. Ambarchian ◽  
Roman V. Epishev ◽  
Leonid A. Opryatin ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Correct Diagnosis ◽  
Molecular Genetic ◽  
Final Diagnosis ◽  
Molecular Genetic Testing ◽  
Pediatric Dermatology ◽  
Dominant Type ◽  
Recessive Type

Background. Nowadays, dermatoses with mixed clinical picture and resistant to classical management become more common. The presence of various genetic disorders typical for most chronic dermatoses may indicate possible combination of several nosologies.Clinical Case Description. The article presents the clinical case of multimorbid condition in 10 years old patient who has nucleotide variants in CARD14 and EXPH5 genes. Mutations in CARD14 gene are typical for patients with type 2 psoriasis and pityriasis rubra pilaris (autosomal dominant type), while mutations in EXPH5 gene are typical for patients with non-specific epidermolysis bullosa (autosomal recessive type). Mutation in the TGM1 gene that is described in patients with congenital ichthyosis (autosomal recessive type), pathogenic mutations in KRT74 gene typical for ectodermal dysplasia, hypotrichosis and uncombable hair syndrome, and mutations in the KRT86 gene typical for monilethrix were also revealed. Medical history taking and histological examination as well as clinical data evaluating are crucial for correct diagnosis. They allow to understand the absence of the such manifestations in relatives and reveal various pathological processes in the epidermis. Molecular genetic testing with new generation sequencing (NGS) helps to finally establish the diagnosis and determine the further tactics for patient management.Conclusion. Multidisciplinary approach and use of high-technology methods of examination and treatment (such as molecular genetic testing and biological therapy) are required for final diagnosis in severe forms of chronic dermatosis resistant to treatment and for decision on correct tactics for the further management of such patients.

scholarly journals Characterization of Patients with Glanzmann Thrombasthenia and Identification of 17 Novel Mutations

Blood ◽  
2014 ◽  
Vol 124 (21) ◽  
pp. 1460-1460
Author(s):  
Kirstin Sandrock-Lang ◽  
Johannes Oldenburg ◽  
Verena Wiegering ◽  
Susan Halimeh ◽  
Sentot Santoso ◽  
...  
Keyword(s):  
Conflicts Of Interest ◽  
Regulatory Element ◽  
Molecular Genetic ◽  
Compound Heterozygous ◽  
Glanzmann Thrombasthenia ◽  
Platelet Protein ◽  
Activated Platelets ◽  
Platelet Spreading ◽  
Willebrand Factor

Abstract Background: Glanzmann thrombasthenia (GT) is an autosomal recessive bleeding disorder. Platelets from patients with GT show quantitative and/or qualitative defects of the platelet membrane glycoprotein (GP) IIb/IIIa complex, also called integrin αIIbβ3. On activated platelets the αIIbβ3 binds von fibrinogen and Willebrand factor which leads to platelet spreading and formation of platelet-platelet protein bridges. Patients: In this study, 18 patients with GT were investigated with molecular genetic analyses. The patients presented with bleeding symptoms such as epistaxis, mucocutaneous bleeding, haematomas, petechiae, gastrointestinal bleeding, and menorrhagia. Methods and Results: As cause of GT in the patients homozygous or compound heterozygous mutations in ITGA2B or ITGB3 were identified through sequencing of genomic DNA. All exons including exon/intron boundaries of both genes were analyzed. In summary, 16 of 18 patients revealed 27 different mutations (ITGA2B: n = 17, ITGB3: n = 10). Of these mutations, 17 have not been published yet. Conclusion: In 16 patients mutations in ITGA2B or ITGB3 were identified as cause of GT. A total of 27 mutations including 17 novel missense, nonsense, frameshift and splice site mutations were detected. None of these mutations were present more than once in unrelated patients. In addition, 2 patients were without molecular genetic findings in ITGA2B or ITGB3 that could explain the suspected diagnosis of GT. We hypothesize that these patients may harbour defects in a regulatory element affecting the transcription of these genes or there may exist other proteins important for the activation of the αIIbβ3 complex that could be affected. Disclosures No relevant conflicts of interest to declare.

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