Journal of pediatric genetics最新文献_第10页

Short Stature Syndromes: Case Series from India. 身材矮小综合症：印度病例系列。

IF 0.4

Journal of pediatric genetics Pub Date : 2021-04-14 eCollection Date: 2022-12-01 DOI: 10.1055/s-0041-1726037

Inusha Panigrahi, Parminder Kaur, Chakshu Chaudhry, Mohd Shariq, Devika D Naorem, B C Gowtham, Anupriya Kaur, Devi Dayal

{"title":"Short Stature Syndromes: Case Series from India.","authors":"Inusha Panigrahi, Parminder Kaur, Chakshu Chaudhry, Mohd Shariq, Devika D Naorem, B C Gowtham, Anupriya Kaur, Devi Dayal","doi":"10.1055/s-0041-1726037","DOIUrl":"10.1055/s-0041-1726037","url":null,"abstract":"Syndromes causing short stature include Noonan syndrome (NS), Williams syndrome, and Silver-Russell syndrome (SRS). SRS is a primordial dwarfism with genetic heterogeneity. The SRS children present with prenatal growth retardation, neonatal hypoglycemia, feeding difficulties, physical asymmetry, with scoliosis and cardiac defect in some cases. The incidence is up to 1 in 100,000. Uniparental disomy, methylation abnormalities, and variants in some genes have been found underlying such phenotype. Growth hormone therapy has been used to improve the height gain in these patients. NS has genetic heterogeneity and most patients present with short stature with or without cardiac defect. Multiple genetic variants, mostly autosomal dominant, contribute to the phenotype. With the availability of next-generation sequencing, more and more genetic disorders causing short stature are being identified in different ethnic populations like Kabuki syndrome and Nance-Horan syndrome. Here, we present some cases of SRS and other additional syndromes with dysmorphism seen in past 5 years.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"11 4","pages":"279-286"},"PeriodicalIF":0.4,"publicationDate":"2021-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9578783/pdf/10-1055-s-0041-1726037.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40577392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Status of Catalase, Glutathione Peroxidase, Glutathione S-Transferase, and Myeloperoxidase Gene Polymorphisms in Beta-Thalassemia Major Patients to Assess Oxidative Injury and Its Association with Enzyme Activities. β -地中海贫血重症患者过氧化氢酶、谷胱甘肽过氧化物酶、谷胱甘肽s -转移酶和髓过氧化物酶基因多态性状况评估氧化损伤及其与酶活性的关系

IF 0.4

Journal of pediatric genetics Pub Date : 2021-04-12 eCollection Date: 2022-09-01 DOI: 10.1055/s-0041-1723961

Poonam Tripathi, Sarita Agarwal, Satyendra Tewari, Kausik Mandal

{"title":"Status of Catalase, Glutathione Peroxidase, Glutathione S-Transferase, and Myeloperoxidase Gene Polymorphisms in Beta-Thalassemia Major Patients to Assess Oxidative Injury and Its Association with Enzyme Activities.","authors":"Poonam Tripathi, Sarita Agarwal, Satyendra Tewari, Kausik Mandal","doi":"10.1055/s-0041-1723961","DOIUrl":"https://doi.org/10.1055/s-0041-1723961","url":null,"abstract":"Beta-thalassemic patients require regular blood transfusion to sustain their life which leads to iron overload and causes oxidative stress. The aim of this study was to investigate the status of variants in genes including GSTM1 , GSTT1 (null/present), CT-262 (C > T) and CT-89 (A > T), glutathione peroxidase (GPx), and myeloperoxidase (MPO). The genotype studies were conducted with 200 thalassemia major (TM) patients and 200 healthy controls. Genotyping of GST gene was performed by multiplex polymerase chain reaction (PCR), whereas for CT, GPx and MPO genesvariants PCR- restriction fragment length polymorphism technique used. However, the enzyme activities were measured only in the patients group to assess the association with the genotypes. All enzyme estimations were performed by ELISA. We observed higher frequency of GSTT1 null, CT-89 (A > T), GPx1 198 (C > T) and MPO-463 (G > A) polymorphisms in TM patient than healthy controls. However, CT-262 (C > T) polymorphism was not found to be statistically significantly different between patients and controls. Our results suggest that frequency of null allele of glutathione-S-transferase is significantly high among TM patients. The other alleles CT-89 (A > T), GPx1 198 (C > T), and MPO-463 (G > A) are linked to decreased CT, GPX, and MPO enzyme activities.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"11 3","pages":"198-212"},"PeriodicalIF":0.4,"publicationDate":"2021-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9385263/pdf/10-1055-s-0041-1723961.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40712728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Analyzing Inbreeding and Estimating Its Related Deficiencies in Northeastern Brazil. 巴西东北部近交分析及相关缺陷估计。

IF 0.4

Journal of pediatric genetics Pub Date : 2021-04-01 eCollection Date: 2022-12-01 DOI: 10.1055/s-0041-1725977

Cristian Rodrigues do Nascimento, Dyowani Dos Santos Basílio, Johnnatas Mikael Lopes, Isaac Farias Cansanção

{"title":"Analyzing Inbreeding and Estimating Its Related Deficiencies in Northeastern Brazil.","authors":"Cristian Rodrigues do Nascimento, Dyowani Dos Santos Basílio, Johnnatas Mikael Lopes, Isaac Farias Cansanção","doi":"10.1055/s-0041-1725977","DOIUrl":"https://doi.org/10.1055/s-0041-1725977","url":null,"abstract":"This cross-sectional study aimed to observe number of marriages between relatives in São Francisco Valley municipalities and correlations between degrees of kinship and susceptibility to genetic diseases. Three hundred and nine (309) consanguineous couples were interviewed in five municipalities. The data were analyzed using SPSS (version 22), Chi-square testing, and the generalized estimating equation (GEE). In Pariconha-AL for first cousins, the results revealed significantly higher numbers of disabled children than for third cousins ( p < 0.05). Of these, the prevalence for physical disability was significant ( χ 2 = 19.203, d f = 4, p = 0.001). In the cities of Glória-BA ( χ 2 = 11.652, d f = 3, p = 0.020) and OlhoD'água do Casado-AL ( χ 2 = 8.123, d f = 4, p = 0.044), physical disabilities were also significantly higher in children from unions of first-degree cousins than for other degrees of kinship. Visual impairment was more significant in first-degree cousins in Glória-BA ( χ 2 = 14.206, d f = 3 p = 0.007); yet among third-degree cousins, visual impairment in the municipality of Santa Brígida-BA was more prevalent ( χ 2 = 6.416, d f = 2 p = 0.040). Inbreeding, as revealed in the evaluated cities, reinforces the hypothesis for developing genetic diseases.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"11 4","pages":"272-278"},"PeriodicalIF":0.4,"publicationDate":"2021-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9578784/pdf/10-1055-s-0041-1725977.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40577394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cribriform Appearance of White Matter in Canavan Disease Associated with Novel Mutations of ASPA Gene. 与ASPA基因新突变相关的Canavan病白质筛状外观

IF 0.4

Journal of pediatric genetics Pub Date : 2021-03-10 eCollection Date: 2022-12-01 DOI: 10.1055/s-0041-1725118

Maya Dattatraya Bhat, Netravathi Manjunath, Renu Kumari, Mohammed Faruq, Pramod Kumar Pal, Chandrajit Prasad, Ravindranadh Chowdary Mundlamuri, Atchayaram Nalini, Gautham Arunachal Udupi, Priyanka Priyadarshini Baishya, Karthik Kulanthaivelu

{"title":"Cribriform Appearance of White Matter in Canavan Disease Associated with Novel Mutations of ASPA Gene.","authors":"Maya Dattatraya Bhat, Netravathi Manjunath, Renu Kumari, Mohammed Faruq, Pramod Kumar Pal, Chandrajit Prasad, Ravindranadh Chowdary Mundlamuri, Atchayaram Nalini, Gautham Arunachal Udupi, Priyanka Priyadarshini Baishya, Karthik Kulanthaivelu","doi":"10.1055/s-0041-1725118","DOIUrl":"https://doi.org/10.1055/s-0041-1725118","url":null,"abstract":"Cribriform appearance of the brain in Canavan disease is a rare finding. The two presented cases broaden the magnetic resonance imaging (MRI) phenotype wherein numerous oval, cystic structures, a few resembling dilated Virchow-Robin (VR) spaces, were noted in the centrum semiovale, periventricular, and lobar white matter producing a cribriform pattern. Besides, discrete round to oval cysts were present at the gray-white matter junctions in the second case, which were larger and appeared morphologically distinct from the VR spaces. These cysts did not elongate in any plane on imaging and were more representative of giant intramyelinic vacuoles. Genetic analysis revealed novel mutations in the aspartoacylase or ASPA gene that possibly accounts for the severe form of Canavan disease, which probably explains the imaging findings. The multicystic appearance of the white matter in Canavan disease is unusual and possibly represents two different histopathological substrates.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"11 4","pages":"267-271"},"PeriodicalIF":0.4,"publicationDate":"2021-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9578778/pdf/10-1055-s-0041-1725118.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40577396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Prolapsed Rectum and Risk Factors in Prader-Willi Syndrome: A Case-Based Review. Prader-Willi综合征的直肠脱垂和危险因素:一项基于病例的回顾。

IF 0.4

Journal of pediatric genetics Pub Date : 2021-03-03 eCollection Date: 2022-03-01 DOI: 10.1055/s-0041-1724049

Merlin G Butler

{"title":"Prolapsed Rectum and Risk Factors in Prader-Willi Syndrome: A Case-Based Review.","authors":"Merlin G Butler","doi":"10.1055/s-0041-1724049","DOIUrl":"https://doi.org/10.1055/s-0041-1724049","url":null,"abstract":"A 14-year-old male adolescent patient with Prader-Willi syndrome (PWS) with maternal disomy 15 was reported with rectal prolapse as only the second patient in the literature. With predisposing risk factors present for rectal damage and prolapse in this syndrome, the incidence must be higher and therefore underreported. These risk factors include skin and rectal picking, self-stimulation, altered pain sensation, decreased muscle mass, strength and physical activity with hypotonia, and gastrointestinal (GI) disturbances. Pertinent literature was reviewed and analyzed that focused on clinical features and behavior seen in PWS as underrecognized risk factors for developing rectal damage and prolapse. An illustrative case is presented as the second patient reported with PWS and a prolapsed rectum. A discussion of predisposing behavioral and clinical risk factors is presented including for self-stimulation, rectal picking, chronic constipation, decreased gut motility, reduced water intake, and a restricted diet. Although a paucity of cases do exist, physical, behavioral, and GI findings common in PWS may contribute to rectal prolapse requiring better awareness and proactive surveillance, management, and treatment protocols for patients affected with this rare obesity-related genetic disorder.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":" ","pages":"1-4"},"PeriodicalIF":0.4,"publicationDate":"2021-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8847050/pdf/10-1055-s-0041-1724049.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39801783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Phenotype and Genotype Profile of Children with Primary Distal Renal Tubular Acidosis: A 10-Year Experience from a North Indian Teaching Institute. 原发性远端肾小管酸中毒儿童的表型和基因型:北印度教学学院的10年经验。

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Journal of pediatric genetics Pub Date : 2021-03-03 eCollection Date: 2022-09-01 DOI: 10.1055/s-0041-1724114

Lesa Dawman, Karalanglin Tiewsoh, Prabal Barman, Kambagiri Pratyusha, Lalawmpuia Chaakchhuak, Indar Kumar Sharawat

{"title":"Phenotype and Genotype Profile of Children with Primary Distal Renal Tubular Acidosis: A 10-Year Experience from a North Indian Teaching Institute.","authors":"Lesa Dawman, Karalanglin Tiewsoh, Prabal Barman, Kambagiri Pratyusha, Lalawmpuia Chaakchhuak, Indar Kumar Sharawat","doi":"10.1055/s-0041-1724114","DOIUrl":"https://doi.org/10.1055/s-0041-1724114","url":null,"abstract":"Primary distal renal tubular acidosis (dRTA) or Type 1 RTA in children is caused by a genetic defect (involved genes ATP6V0A4 , ATP6V1B1 , SLC4A1 , FOXI1 , or WDR72 ), which causes tubular transport defects characterized by an inability to appropriately acidify urine with resultant persistent hyperchloremic metabolic acidosis. Retrospective analysis of 28 children (14 males) under the age of 14 years with dRTA seen from 2010 to 2019 was reviewed, and detailed clinic records were analyzed. The clinical features, investigations, and response to treatment were recorded. The median age of the children at presentation was 30 months (range: 9.25-72 months), and the median age at onset of symptoms was 2 months. All the children had growth failure, polyuria, and polydipsia at presentation. Mean serum potassium, pH, bicarbonate, and anion gap at presentation was 2.3 ± 0.5 mmol/L, 7.22 ± 0.09, 13.28 ± 4.37 mmol/L, and 9.3 ± 2.18, respectively. Mean serum potassium, pH, bicarbonate at follow-up was 3.88 ± 0.6 mmol/L, 7.35 ± 0.06, and 20.13 ± 4.17 mmol/L, respectively. The median z-score for the weight for age and height for age at initial presentation was -4.77 (-7.68 to -3.74) and -4.21 (-5.42 to -2.37) and at follow-up was -3.35 (-5.29 to -1.55) and -3.84 (-5.36 to -1.63), respectively. Twenty-two (78.6%) children had medullary nephrocalcinosis. Four children had sensorineural hearing loss. Seven children had genetic testing done, and six had pathogenic or likely pathogenic variants in ATP6V1B1 and ATP6V0A4 gene. Children with dRTA have a guarded prognosis and ATP6V1B1 and ATP6V0A4 mutations are the most common implicated genetic defect in Indian children with distal RTA.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"11 3","pages":"221-226"},"PeriodicalIF":0.4,"publicationDate":"2021-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9385252/pdf/10-1055-s-0041-1724114.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40712730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Autosomal Recessive Polycystic Kidney Disease-The Clinical Aspects and Diagnostic Challenges. 常染色体隐性多囊肾病的临床特点和诊断挑战。

IF 0.4

Journal of pediatric genetics Pub Date : 2021-03-01 Epub Date: 2020-07-29 DOI: 10.1055/s-0040-1714701

Dorota Wicher, Łukasz Obrycki, Irena Jankowska

引用次数: 6

Genetic Polymorphisms of Drug-Metabolizing Enzymes Involved in 6-Mercaptopurine-Induced Myelosuppression in Thai Pediatric Acute Lymphoblastic Leukemia Patients. 泰国儿童急性淋巴细胞白血病患者6-巯基嘌呤诱导骨髓抑制的药物代谢酶基因多态性

IF 0.4

Journal of pediatric genetics Pub Date : 2021-03-01 Epub Date: 2020-09-08 DOI: 10.1055/s-0040-1715818

Kanyarat Khaeso, Nontaya Nakkam, Patcharee Komwilaisak, Piyathida Wongmast, Su-On Chainansamit, Areerat Dornsena, Sirimas Kanjanawart, Suda Vannaprasaht, Wichittra Tassaneeyakul

{"title":"Genetic Polymorphisms of Drug-Metabolizing Enzymes Involved in 6-Mercaptopurine-Induced Myelosuppression in Thai Pediatric Acute Lymphoblastic Leukemia Patients.","authors":"Kanyarat Khaeso, Nontaya Nakkam, Patcharee Komwilaisak, Piyathida Wongmast, Su-On Chainansamit, Areerat Dornsena, Sirimas Kanjanawart, Suda Vannaprasaht, Wichittra Tassaneeyakul","doi":"10.1055/s-0040-1715818","DOIUrl":"https://doi.org/10.1055/s-0040-1715818","url":null,"abstract":"Genetic polymorphisms of thiopurine S-methyltransferase (TPMT) and nucleoside diphosphate-linked moiety X-type motif 15 ( NUDT15 ) genes have been proposed as key determinants of 6-mercaptopurine (6-MP)-induced myelosuppression in pediatric acute lymphoblastic leukemia (ALL). In the present study, genotypes of TPMT and NUDT15 were investigated in 178 Thai pediatric patients with ALL by the TaqMan SNP genotyping assay and DNA sequencing. The frequency of TPMT*3C was 0.034. Among NUDT15 variants, NUDT15*3 is the most common variant with the allele frequency of 0.073, whereas those of NUDT15*2 , NUDT15*5 , and NUDT15*6 variants were 0.022, 0.011, and 0.039. These data suggest that a high proportion of Thai pediatric ALL patients may be at risk of thiopurine-induced myelosuppression.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"10 1","pages":"29-34"},"PeriodicalIF":0.4,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0040-1715818","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25341542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Pseudohypoparathyroidism with Ectopic Calcification and 22q11 Deletion Syndrome: A Rare Case. 假性甲状旁腺功能减退伴异位钙化和22q11缺失综合征:一例罕见病例。

IF 0.4

Journal of pediatric genetics Pub Date : 2021-03-01 Epub Date: 2020-02-12 DOI: 10.1055/s-0040-1701640

Bruna Lixinski Diniz, Andressa Barreto Glaeser, Desirée Deconte, Bruna Baierle Guaraná, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen

引用次数: 2

Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum. 亚洲印度杜氏肌营养不良表型患者的新一代测序:诊断产量和突变谱。

IF 0.4

Journal of pediatric genetics Pub Date : 2021-03-01 Epub Date: 2020-07-08 DOI: 10.1055/s-0040-1713850

Gayatri Nerakh, Prajnya Ranganath, Sakthivel Murugan

{"title":"Next-Generation Sequencing in a Cohort of Asian Indian Patients with the Duchenne Muscular Dystrophy Phenotype: Diagnostic Yield and Mutation Spectrum.","authors":"Gayatri Nerakh, Prajnya Ranganath, Sakthivel Murugan","doi":"10.1055/s-0040-1713850","DOIUrl":"https://doi.org/10.1055/s-0040-1713850","url":null,"abstract":"Multiplex ligation-dependent probe amplification (MLPA) detects exonic deletions and duplications in the DMD gene in around 65 to 70% of patients with the Duchenne muscular dystrophy (DMD) phenotype. This study looks at the diagnostic yield of next-generation sequencing (NGS) and the mutation spectrum in an Asian Indian cohort of MLPA-negative cases with the DMD phenotype. NGS-based sequencing of DMD gene was done in 28 MLPA-negative cases (25 male probands with the DMD phenotype and 3 obligate carrier mothers of deceased affected male patients) and disease-causing variants were identified in 19 (67.9%) of these cases. Further molecular testing in four of the remaining nine cases revealed gene variants associated with limb girdle muscular dystrophies. Thus, NGS-based multigene panel testing for muscular dystrophy-associated genes or clinical exome sequencing rather than targeted DMD gene sequencing appears to be a more cost-effective testing modality with better diagnostic yield, for MLPA-negative patients with the DMD phenotype.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"10 1","pages":"23-28"},"PeriodicalIF":0.4,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0040-1713850","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25341541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 6