scholarly journals Congenital hypopituitarism in children. Molecular-genetic characteristics

2018 ◽  
Vol 10 (1) ◽  
pp. 49-54
Author(s):  
O. S. Berseneva ◽  
A. S. Glotov ◽  
O. S. Glotov ◽  
E. A. Serebryakova ◽  
T. E. Ivashenko ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Genetic Studies ◽  
Genetic Characteristics ◽  
Saint Petersburg ◽  
Stimulation Tests ◽  
New Generation Sequencing ◽  
New Generation ◽  
Congenital Hypopituitarism ◽  
Growth Hormone Insufficiency

In connection with the ambiguity in the interpretation of the results of stimulation tests in congenital hypopituitarism, children need to search for molecular genetic markers of the disease. Molecular genetic analysis in patients with congenital hypopituitarism (genes GH1, GHRH, GHRHR,BTK, GHSR, PROP1, POU1F1, HESX1, LHX3, LHX4, SOX3, SOX2, OTX2, GLI2, ARNT2, ARPC5L, DLK1, DRD2, PAX6, RNPC3, SHH, SPCS2, SPCS3), was carried out by new-generation sequencing (NGS) with “Amplisek” technology. All patients with congenital hypopituitarism, who are in a special registry of Saint Petersburg, were included in this study. A difference in the incidence of mutations in patients with multiple deficiency of adenohypophysis hormones (27.7%) and in patients with isolated growth hormone insufficiency (9.6%) was revealed. The mutation frequency of diagnosis in genes responsible for congenital hypopituitarism in patients of Saint Petersburg were studied. Mutations in genes associated with congenital hypopituitarism were identified in 16.3% of patients with pituitary dwarfism (16 of 98). The most commonly diagnosed mutations are changes in gene PROP1. In carrying out the molecular genetic studies of patients with congenital hypopituitarism is necessary to consider the likelihood of the presence of these rare pathologies such as loss of genes GHSR, ARNT2, BTK. Currently conducting molecular genetic studies in patients with congenital hypopituitarism further predicts development of the disease and, if necessary, adjust the ongoing replacement therapy.

scholarly journals Mutations in the ghrelin receptor gene GHSR in congenital hypopituitarism

2017 ◽  
Vol 63 (2) ◽  
pp. 98-102
Author(s):  
Elena B. Bashnina ◽  
Olga S. Berseneva ◽  
Andrey S. Glotov ◽  
Oleg S. Glotov ◽  
Mariia E. Turkunova ◽  
...  
Keyword(s):  
Receptor Gene ◽  
Molecular Genetic ◽  
Pituitary Hormones ◽  
Malabsorption Syndrome ◽  
Hormone Deficiency ◽  
Genetic Studies ◽  
Ghrelin Receptor ◽  
New Generation Sequencing ◽  
New Generation ◽  
Congenital Hypopituitarism

The results of molecular genetic studies indicate the potential involvement of ghrelin in the pathogenesis of some dwarfism forms. However, in the case of isolated somatotropin insufficiency, mutations in the ghrelin receptor gene are a rare cause of the disease. The article describes a case of identification, based on new generation sequencing (NGS) using the AmpliSeq technology, of a functionally significant marker ― the c.837C>A substitution in the ghrelin receptor gene GHSR (OMIM: 615925) in the heterozygous state in two sisters with isolated growth hormone deficiency and the clinical picture of malabsorption syndrome. We have supposed that mutations in the GHSR gene may be an etiological factor of isolated somatotropin insufficiency in a combination with malabsorption syndrome and eating disorders. Mutations in the GHSR gene enable predicting the development of somatotropin insufficiency not associated with abnormality of other pituitary hormones.

scholarly journals MOLECULAR GENETIC CHARACTERISTICS CHILDREN WITH GROWTHHORMONE DEFICIENCY

2017 ◽  
Vol 9 (4) ◽  
pp. 12-16
Author(s):  
O S Berseneva ◽  
A S Glotov ◽  
O S Glotov ◽  
E A Serebryakova ◽  
T E Ivashenko ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Genetic Studies ◽  
Genetic Characteristics ◽  
Therapeutic Algorithms ◽  
Congenital Hypopituitarism

Clinical manifestations of heterogeneity of growth hormone deficiency when definitive results of hormonal stimulus test determines the need to search for molecular genetic markers of the disease to form personalized therapeutic algorithms. Molecular genetic analysis in patients with congenital hypopituitarism was carried out by new-generation sequencing (NGS) with "Amplisek" technology. All patients with congenital hypopituitarism, who are in a special registry of Saint Petersburg, were included in this study. differences in the frequency of detection of mutations in patients with multiple anterior pituitary hormone deficiency and in patients with isolated growth hormone deficiency were found. The mutation frequency of diagnosis in genes responsible for congenital hypopituitarism in patients of St. Petersburg were studied.Mutations in genes associated with congenital hypopituitarism were identified in 16.3% of patients with pituitary dwarfism (16 of 98). The most commonly diagnosed mutations are changes in gene PROP1. In carrying out the molecular genetic studies of patients with congenital hypopituitarism is necessary to consider the likelihood of the presence of these rare pathologies such as loss of genes GHSR, ARNT2, BTK. Currently conducting molecular genetic studies in patients with congenital hypopituitarism further predicts development of the disease and, if necessary, adjust the ongoing replacement therapy.

scholarly journals Molecular genetic analysis of the EXT2 gene - causes of hereditary multiple exostoses in Yakuts

2020 ◽  
pp. 59-60
Author(s):  
А.Е. Яковлева ◽  
Д.А. Петухова ◽  
А.Л. Данилова ◽  
А.Л. Сухомясова ◽  
Н.Р. Максимова
Keyword(s):  
Genetic Analysis ◽  
Clinical Diagnosis ◽  
Sanger Sequencing ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Genetic Studies ◽  
Rare Mutation ◽  
Parallel Sequencing ◽  
Hereditary Multiple Exostoses ◽  
Multiple Exostoses

В статье представлены результаты молекулярно-генетических исследованиий больных с множественной экзостозной хондродисплазией (МЭХД), причиной которой явилась редкая мутация в гене EXT2. Исследованы 65 больных с МЭХД и их родственников из 30 неродственных семей. Для молекулярно-генетического анализа было использовано массовое параллельное секвенирование и прямое секвенирование по Сэнгеру. У 16 больных из 4 семей с клиническим диагнозом МЭХД была выявлена редкая нонсенс-мутация c.751С>T в экзоне 5 гена EXT2 в гетерозиготном состоянии. Here we present molecular genetic studies of Yakut patients with hereditary multiple exostoses (HME), which caused by a rare mutation in the EXT2 gene. A total of 65 patients with clinical diagnosis of HME and their relatives from 30 unrelated families were examined. For molecular genetic analysis, massive parallel sequencing (MPS) and direct Sanger sequencing were used. In 16 patients from 4 families with a clinical diagnosis of HME, a rare heterozygous nonsense mutation c.751C> T was detected in exon 5 of the EXT2.

scholarly journals Pediatric Sclerosing Rhabdomyosarcomas: A Review

ISRN Oncology ◽  
2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Amandeep Kumar ◽  
Manmohan Singh ◽  
Mehar C. Sharma ◽  
Sameer Bakshi ◽  
Bhawani S. Sharma
Keyword(s):  
Molecular Genetic ◽  
Disease Free Survival ◽  
Molecular Genetic Analysis ◽  
Classification Systems ◽  
Genetic Characteristics ◽  
Free Survival ◽  
Treatment Failure Rate ◽  
Alive With Disease ◽  
Pubmed Search

Sclerosing RMS (SRMS) is a recently described subtype of RMS that has not yet been included in any of the classification systems for RMSs. We did pubmed search using keywords “sclerosing, and rhabdomyosarcomas” and included all pediatric cases (age ≤ 18 years) of SRMSs in this review. We also included our case of an eleven-year-old male child with skull base SRMS and discuss the clinical, histopathological, immunohistochemical, and genetic characteristics of these patients. Till now, only 20 pediatric cases of SRMSs have been described in the literature. Pediatric SRMS more commonly affects males at a mean age of 9 years. Extremeties and head/neck regions were most commonly affected. Follow-up details were available for 16 patients with mean follow-up of 25.3 months. Treatment failure rate was 43.75%. Overall amongst these 16 patients, 10 were alive without disease, 4 were alive with disease, and two died. Thus, overall and disease-free survival amongst these 16 patients were 87.5% and 62.5%, respectively. The literature regarding clinical behaviour and outcome of pediatric patients with SRMSs is patchy. Detailed molecular/genetic analysis and clinicopathological characterization with longer follow-ups of more cases may throw some light on this possibly new subtype of RMS.

scholarly journals Study of Phytophthora infestans Mont. de Bary isolates in the planting of potatoes

2021 ◽  
pp. 86-91
Author(s):  
N. V. Matsishina ◽  
P. V. Fisenko ◽  
O. A. Sobko ◽  
I. V. Kim ◽  
D. I. Volkov ◽  
...  
Keyword(s):  
Phytophthora Infestans ◽  
Molecular Genetic ◽  
Microscopic Analysis ◽  
Molecular Genetic Analysis ◽  
In Vitro Cultivation ◽  
Genetic Characteristics ◽  
Potato Varieties ◽  
Phytotoxic Activity ◽  
Wide Range

Relevance. One of the most common diseases of potatoes and other nightshade family species is late blight caused by a pathogenic oomycete of the Phytophthora infestans (Mont.) de Bary. At least 100 species of phytophthora have been described in nature, affecting a wide range of plant species. The phytophthora population is heterogeneous and is represented by races, as well as different types of mating. This leads to a rapid adaptation of the pathogen and the emergence of new, more aggressive, and resistant races. Phytophthora is a parasite, the damage from which cannot be avoided within the organic farming framework. Therefore, it is particularly important to know the pathogenesis and racial composition of phytophthora in each individual region of Solanaceae cultivation.Research methodology. Differentiation and collection of material from the natural population were carried out using potato varieties with known R-genes in the genome. Isolation and introduction into the culture were carried out from leaves with the dampening chambers method, followed by cultivation on nutrient media. The pathogen was identified by microscopic analysis. Culture filtrates were obtained on the liquid nutritious medium, followed by liquid filtration and autoclaving. Phytotoxic activity was determined by the effect on the seedlings of the nightshade, grass, and pea families by the standard method. Molecular genetic analysis of the isolates was carried out by ISSR analysis; the primer, amplification mixture, and temperature profile of the reaction were selected according to the literature data; the calculation of genetic characteristics was carried out using POPGENE software packages.Results. Samples of seven Phytophthora infestans isolates were collected and introduced into culture. As a result of in vitro cultivation, morphological differences were revealed, expressed in the structure and color of the mycelium, the shape of the colonies, the nature of sporulation, the color of the reverse, and the medium under the colonies. The genetic differences of the natural phytophthora material introduced into the culture, collected from potato varieties with single resistance genes (R1, R3, R4), were revealed. Differences in the phytotoxic activity of the studied isolates' cultural filtrates were revealed. The isolated isolates demonstrate differentiation at the phenotypic, genetic and physiological levels, which allows us to speak about their belonging to races.

scholarly journals Gillespiе syndrome, caused by previously undescribed mutation in the gene ITPR1

2019 ◽  
Vol 14 (1) ◽  
pp. 49-53
Author(s):  
I. V. Sharkova ◽  
I. A. Akimova ◽  
O. V. Khlebnikova ◽  
E. L. Dadali
Keyword(s):  
High Performance ◽  
Standard Procedure ◽  
Clinical Manifestations ◽  
Speech Development ◽  
Compound Heterozygous ◽  
Genetic Characteristics ◽  
History Of ◽  
New Generation Sequencing ◽  
New Generation ◽  
Generation Sequencing

Gillespie syndrome is one of the rare monogenic syndromes characterized by a combination of congenital muscular hypotonia, delayed psychomotor and speech development, ataxia and hypoplasia of the iris. The cause of disease – homozygous, compound heterozygous and heterozygous mutations in the gene ITPR1.We described a case history of a child of 1 year and 8 months whose parents were complaining of severe delay in psychomotor and speech development, and a violation of the functions of the visual analyzer. Neurological and ophthalmologic examinations were performed according to a standard procedure. Search for mutations was carried out using high-performance exome sequencing on NextSeg 500 (Illumina, USA) with an average coverage of at least 70–100x.Clinical and genetic characteristics of the patient with Gillespie syndrome due to the newly identified heterozygous missense mutation are presented. Mutation 1865T˃S in the 18 exon of the ITPR1 gene was found during the new generation sequencing of the exome. In the future, these data can be used to predict the characteristics of clinical manifestations and the severity of Gillespie syndrome, when a similar nucleotide substitution will be found in other patients.

scholarly journals INFLUENCE OF BLOOD GROUPS, CAST AND BLG GENES ON PRODUCTIVITY OF THE SHEEP AND GOATS OF THE ALTAY REPUBLIC

2018 ◽  
Vol 48 (4) ◽  
pp. 63-71
Author(s):  
G. M. Goncharenko ◽  
N. V. Grishina ◽  
T. S. Khoroshilova ◽  
I. V. Romanchuk ◽  
T. B. Kargachakova ◽  
...  
Keyword(s):  
Genetic Similarity ◽  
Molecular Genetic ◽  
Live Weight ◽  
Molecular Genetic Analysis ◽  
Pcr Analysis ◽  
Dna Diagnosis ◽  
Genetic Characteristics ◽  
High Productivity ◽  
The Republic ◽  
Cast Gene

The use of genetic markers in addition to traditional methods of animal selection with desirable genotypes allows to increase the share of animals with high productivity in the next generations and ensures improvement of breeding efficiency. Genetic features of the Prikatun type of the Gorno-Altay semi-fine wool breed of sheep and the white downy goat breed in the Republic of Altay were studied by the method of immunogenetic and molecular genetic analysis. The frequency of antigenic factors was identified and the index of genetic similarity between goats and sheep and their separate herds was calculated. Gene polymorphism of β-lactoglobulin (BLG) and calpastatin (CAST) was revealed by the method of DNA diagnosis. Population and genetic characteristics of the herds was studied by the genes specified. Associative genotype relation to productivity and quality of the produce obtained was analyzed. The index of genetic similarity between the goats and the sheep was at the level of 0.713, between the separate herds of the goats the index was 0.861. The ratio of genotypes in the BLG gene determined by PCR analysis in the white downy goats was S1S1– 16.1%; S1S2– 50.6%; S2S2– 33.3%. In the Prikatun type two genotypes were identified in this gene: BB with the frequency of 59.2%, and AB – 40.8%. Two different alleles were identified in the CAST gene of sheep (M and N). The genotype MM was the predominant variant in the CAST sheep gene, whose frequency was 88%. The frequency of occurrence of animals with NN genotype was 1%, MN – 11%. It was shown that the gene equilibrium in the herds was not broken, χ2= 0.931. It was noted that heterozygous goats (S1S2) by BLG gene had a higher live weight by 0.30-0.61 kg compared to other variants of BLG gene (p<0.05). It was also found that lambs with genotype MM of the CAST gene had a higher live weight by 5.5 kg than MN heterozygotes (p< 0.01). However, this difference was not revealed in other age and sex groups of animals.

Small Round Cell Tumors of Bone

2007 ◽  
Vol 131 (2) ◽  
pp. 192-204 ◽  
Author(s):  
Meera Hameed
Keyword(s):  
Molecular Genetic ◽  
Malignant Neoplasms ◽  
Round Cell ◽  
Genetic Studies ◽  
Genetic Characteristics ◽  
Small Round Cell ◽  
Ovid Medline ◽  
Tumors Of Bone ◽  
Round Cell Tumors ◽  
Ewing Family Tumors

Abstract Context.—Primary small round cell tumors of the bone are a heterogeneous group of malignant neoplasms presenting predominantly in children and adolescents. They include Ewing sarcoma/peripheral neuroectodermal tumor or Ewing family tumors, lymphoma, mesenchymal chondrosarcoma, and small cell osteosarcoma. Even though they share many morphological similarities, their unique biological and genetic characteristics have provided substantial insights into the pathology of these diverse neoplasms. Objective.—To provide an overview of the clinical, radiologic, pathologic, and genetic characteristics of these tumors along with a pertinent review of the literature. Data Sources.—A literature search using PubMed and Ovid MEDLINE was performed, and data were obtained from various articles pertaining to clinicopathologic, biological, and genetic findings in these tumors. Additionally, findings from rare cases have been included from author's subspecialty experience. Conclusion.—The diagnosis of small round cell tumors can be made accurately by applying clinicopathologic criteria, as well as a panel of immunohistochemical and genetic studies in appropriate cases. Molecular genetic studies may provide further insight into the biology, histogenesis, and prognosis of these tumors.

scholarly journals Molecular genetics of gastrointestinal non-Hodgkin‧s lymphomas: unusual prevalence and pattern of c-myc rearrangements in aggressive lymphomas

Blood ◽  
1990 ◽  
Vol 76 (4) ◽  
pp. 797-800 ◽  
Author(s):  
JH van Krieken ◽  
M Raffeld ◽  
S Raghoebier ◽  
ES Jaffe ◽  
GJ van Ommen ◽  
...  
Keyword(s):  
Cell Lymphoma ◽  
Molecular Genetic ◽  
Chromosomal Translocation ◽  
Large Cell ◽  
Molecular Genetic Analysis ◽  
Chain Gene ◽  
Low Grade ◽  
Genetic Characteristics ◽  
Myc Gene ◽  
Hodgkin's Lymphomas

Abstract Thirty-two extranodal lymphomas of the gastrointestinal (GI) tract underwent molecular genetic analysis by Southern blotting using probes for the immunoglobulin genes and the bcl-1, bcl-2, and c-myc loci, commonly involved in lymphomagenesis. No bcl-1 rearrangements were found. There was only one large-cell lymphoma with a bcl-2 rearrangement. A rearrangement of the c-myc gene was found in six of eight Burkittlike lymphomas of the intestine. In five of these six cases, a chromosomal translocation t(8;14) with an unusual breakpoint was demonstrated by comigration of the rearranged c-myc and a rearranged JH sequence. This pattern of rearrangement has not been previously associated with a specific group of non-Hodgkin's lymphomas. In contrast to all six low-grade lymphomas, c-myc rearrangements were found in 6 of 12 large-cell or high-grade mucosa-associated lymphomas of the stomach. No comigration of c-myc and immunoglobulin heavy-chain gene sequences were found. We conclude that primary GI lymphomas have different molecular genetic characteristics compared with node-based follicle center-cell lymphoma and as a group are not related to these lymphomas. In addition, the prevalence and patterns of c-myc rearrangements in the gastric large-cell lymphomas and ileocecal Burkittlike lymphomas are noteworthy and suggest a different and distinct pathogenesis for these tumors.

scholarly journals Molecular genetic characteristics of hemostasis in hemorrhagic fever with renal syndrome

2020 ◽  
Vol 101 (6) ◽  
pp. 812-819
Author(s):  
K M Manakhov ◽  
D S Sarksyan ◽  
M V Dudarev ◽  
T O Tolstoluckaya ◽  
N S Ponomarenko ◽  
...  
Keyword(s):  
Molecular Genetic ◽  
Kidney Injury ◽  
Hemorrhagic Fever ◽  
Molecular Genetic Analysis ◽  
Nucleotide Polymorphisms ◽  
Genetic Characteristics ◽  
Significance Level ◽  
Exact Test ◽  
Qualitative Variables ◽  
Stage Renal Disease

Aim. To assess the predictive value of single-nucleotide polymorphisms of hemostasis and folate cycle genes in hemorrhagic fever with renal syndrome (HFRS). Methods. 43 patients undergoing HFRS were examined based on the Republican clinical infectious diseases hospital in Izhevsk. Toxic shock syndrome (TSS) in the decompensated phase, pulmonary edema in the alveolar phase, and acute kidney injury (AKI) at stage F [RIFLE criteria (risk, injury, failure, loss, end-stage renal disease)] were registered as complications. Molecular analysis of patients genomic DNA was performed after its isolation from peripheral blood cells. Genotyping was performed by using multiplex real-time PCR with conformationally restricted probes. Statistical analysis was performed by the licensed program SPSS 22.0; the significance level of difference between groups was determined using the nonparametric MannWhitney test (for quantitative variables) and the Fishers exact test (for qualitative variables). Results. The C/C genotype of the ITGB3:1565T/C gene (p=0.0278), and the C/C genotype of the MTHFR1298 A/C gene (p=0.0407) was less common in severe cases, while the G allele of FGB:455G/A gene (p=0.046) and the T allele of the ITGB3:1565T/C gene (p=0.0166) was more frequent. More frequent detection of the 5G/4G genotype of the PAI-1:675 5G/4G gene was found in the case of TSS (p=0.0433). Genotype C/C of the ITGB3:1565T/C gene (p=0.0145) and a combination of pathological genotypes A/C and C/C of the MTHFR1298A/C gene (p=0.0004) are less common in the development of AKI at stage F. Conclusion. The molecular genetic analysis makes it possible to identify patients with genotypes predisposing to a severe and complicated course of hemorrhagic fever with renal syndrome.

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