Journal of pediatric genetics最新文献_第5页

Pyridoxine Therapy: Not Just the Dose, the Duration Matters Too. 吡哆醇治疗:不只是剂量，持续时间也很重要。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-03-01 DOI: 10.1055/s-0040-1721137

Aakash Chandran Chidambaram, Milan Talwar, Ananthanarayanan Kasinathan, Reena Gulati, Tamil Selvan

引用次数: 0

KCNQ2 Encephalopathy and Responsiveness to Pyridoxal-5'-Phosphate. KCNQ2脑病和对吡哆醛-5'-磷酸的反应性。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-03-01 DOI: 10.1055/s-0040-1721384

Chit Kwong Chow, Ho Ming Luk, Suet Na Wong

{"title":"KCNQ2 Encephalopathy and Responsiveness to Pyridoxal-5'-Phosphate.","authors":"Chit Kwong Chow, Ho Ming Luk, Suet Na Wong","doi":"10.1055/s-0040-1721384","DOIUrl":"https://doi.org/10.1055/s-0040-1721384","url":null,"abstract":"KCNQ2 mutations encompass a wide range of phenotypes, ranging from benign familial neonatal seizure to a clinical spectrum of early-onset epileptic encephalopathy that occurs in the early neonatal period. We report an infant with KCNQ2 encephalopathy presenting as neonatal seizure, initially controlled by two anticonvulsants. Electroencephalogram (EEG) showed repetitive multifocal epileptiform discharges, which remained similar after administration of intravenous pyridoxine injection. Seizure recurred at the age of 3 months preceded by an episode of minor viral infection, which occurred multiple times per day. No significant change in seizure frequency was observed after 5-day oral pyridoxine trial, but subsequently, there was dramatic seizure improvement with oral pyridoxal-5'-phosphate (PLP). We hope to alert clinicians that in patients with neonatal epileptic encephalopathy, particularly with known KCNQ2 mutations, intravenous injection of pyridoxine (preferably with EEG monitoring), followed by both oral trial of pyridoxine and PLP should be considered. KCNQ2 mutations should also be considered in vitamin B6-responsive patients.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9848766/pdf/10-1055-s-0040-1721384.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9132321","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

Achondroplasia: Clinical, Radiological and Molecular Profile from Rare Disease Centre, India. 软骨发育不全:来自印度罕见疾病中心的临床、放射学和分子特征。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-03-01 DOI: 10.1055/s-0041-1731684

Manisha Goyal, Ashok Gupta, Anu Bhandari, Mohammed Faruq

引用次数: 1

Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review. 双等位基因COL18A1突变引起的后窝畸形伴小脑中线裂畸形的兄弟姐妹Knobloch综合征:基于病例的回顾。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-03-01 DOI: 10.1055/s-0040-1721073

Siddaramappa J Patil, Shruti Pande, Jyoti Matalia, Venkatraman Bhat, Minal Kekatpure, Katta Mohan Girisha

{"title":"Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review.","authors":"Siddaramappa J Patil, Shruti Pande, Jyoti Matalia, Venkatraman Bhat, Minal Kekatpure, Katta Mohan Girisha","doi":"10.1055/s-0040-1721073","DOIUrl":"https://doi.org/10.1055/s-0040-1721073","url":null,"abstract":"Knobloch syndrome (KS) is an autosomal recessive disorder caused by biallelic pathogenic variants in COL18A1 . KS clinically manifests with the typical eye findings (high myopia, vitreoretinal degeneration, retinal detachment, and lens subluxation), variable neurological findings (occipital encephalocele, polymicrogyria, cerebellar malformations, epilepsy, and intellectual disability), and the other uncommon clinical manifestations. Literature review of all KS patients (source PubMed) was done with special reference to cerebellar abnormalities. Here, we report two siblings with typical KS with posterior fossa malformations and novel cerebellar midline cleft abnormality analyzed by whole exome sequencing. Known pathogenic homozygous variant c.2908C > T; (p.Arg970Ter) in exon 26 of COL18A1 was found as a cause for KS. These two siblings presented with early-onset severe ocular manifestations, facial dysmorphism, and variable central nervous system manifestations along with novel cerebellar midline cleft abnormality. The presence or absence of structural brain malformations and genotypes does not absolutely predict cognitive functions in KS patients. However, the presence of posterior fossa abnormality may be predictive for the development of ataxia in later life and needs further studies.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9848758/pdf/10-1055-s-0040-1721073.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9146576","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

BCL11A Polymorphism in Egyptian Children with β-Thalassemia: Relation to Phenotypic Heterogeneity. β-地中海贫血的埃及儿童BCL11A多态性:与表型异质性的关系

IF 0.4

Journal of pediatric genetics Pub Date : 2023-03-01 DOI: 10.1055/s-0041-1728744

Nouran Y Salah, Heba G A Ali, Noha Bassiouny, Lamya Salem, Sara I Taha, Mariam K Youssef, Layla Annaka, Noha M Barakat

{"title":"BCL11A Polymorphism in Egyptian Children with β-Thalassemia: Relation to Phenotypic Heterogeneity.","authors":"Nouran Y Salah, Heba G A Ali, Noha Bassiouny, Lamya Salem, Sara I Taha, Mariam K Youssef, Layla Annaka, Noha M Barakat","doi":"10.1055/s-0041-1728744","DOIUrl":"https://doi.org/10.1055/s-0041-1728744","url":null,"abstract":"Fetal hemoglobin (HbF) is a potent genetic modifier of β-thalassemia phenotype. B-cell lymphoma 11A ( BCL11A ) gene results in significant silencing of HbF. The aim of this study was to assess the prevalence of different BCL11A genotypes among a cohort of Egyptian children with β-thalassemia and to correlate them to HbF and clinical severity score. Eighty-two children with β-thalassemia (aged 12.95 ± 3.63 years) were recruited from the Pediatric Hematology Clinic, Ain Shams University. They were divided based on the clinical severity of β-thalassemia into three subgroups: 20 mild (24.4%), 24 moderate (29.3%), and 38 severe (46.3%). Age, gender, age of diagnosis, initial HbF level, transfusion history, and history of splenectomy were assessed. Anthropometric measures, signs of anemia and hemosiderosis, and the severity score were determined. Laboratory investigations such as complete blood picture, ferritin, and single gene polymorphism genotyping of the rs11886868 were also performed. Our findings showed that 16 children had CC genotype (19.5%), 38 had TC genotype (46.3%), and 28 had TT genotype (34.1%) of the rs#. β-thalassemia children with TT genotype had significantly higher severity scoring than the other two groups ( p < 0.001). Moreover, mean initial HbF was found to be lower in children with TT genotype followed by TC and CC genotypes ( p < 0.001). Increased γ-globin expression associated with BCL11A gene polymorphism is associated with better clinical severity of β-thalassemia.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9848767/pdf/10-1055-s-0041-1728744.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9132323","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

Clinical Profile of Indian Children with Down Syndrome. 印度唐氏综合症儿童的临床概况。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-03-01 DOI: 10.1055/s-0041-1732475

Inusha Panigrahi, Yogita Bhatt, Shivani Malik, Parminder Kaur, Anupriya Kaur

引用次数: 0

Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms. 以rett样表型和婴儿痉挛为表现的iqsec2相关脑病对类固醇的反应

IF 0.4

Journal of pediatric genetics Pub Date : 2023-03-01 DOI: 10.1055/s-0040-1721371

Divya Nagabushana, Aparajita Chatterjee, Raghavendra Kenchaiah, Ajay Asranna, Gautham Arunachal, Ravindranadh Chowdary Mundlamuri

{"title":"Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms.","authors":"Divya Nagabushana, Aparajita Chatterjee, Raghavendra Kenchaiah, Ajay Asranna, Gautham Arunachal, Ravindranadh Chowdary Mundlamuri","doi":"10.1055/s-0040-1721371","DOIUrl":"https://doi.org/10.1055/s-0040-1721371","url":null,"abstract":"Introduction IQSEC2-related encephalopathy is an X-linked childhood neurodevelopmental disorder with intellectual disability, epilepsy, and autism. This disorder is caused by a mutation in the IQSEC2 gene, the product of which plays an important role in the development of the central nervous system. Case Report We describe the symptomatology, clinical course, and management of a 17-month-old male child with a novel IQSEC2 mutation. He presented with an atypical Rett syndrome phenotype with developmental delay, autistic features, midline stereotypies, microcephaly, hypotonia and epilepsy with multiple seizure types including late-onset infantile spasms. Spasms were followed by worsening of behavior and cognition, and regression of acquired milestones. Treatment with steroids led to control of spasms and improved attention, behavior and recovery of lost motor milestone. In the past 10 months following steroid therapy, child lags in development, remains autistic with no further seizure recurrence. Conclusion IQSEC2-related encephalopathy may present with Rett atypical phenotypes and childhood spasms. In resource-limited settings, steroids may be considered for spasm remission in IQSEC2-related epileptic encephalopathy.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9848762/pdf/10-1055-s-0040-1721371.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9132327","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

Acetabular Protrusion in a Cohort of Patients with Osteogenesis Imperfecta Evaluated in a Pediatric Hospital. 在儿科医院评估的成骨不全患者队列中的髋臼突出。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-03-01 DOI: 10.1055/s-0041-1732476

Rosario Ramos-Mejía, Francisco Monterroza-Quintana, Claudio Primomo, Rodolfo Goyeneche, Virginia Fano

{"title":"Acetabular Protrusion in a Cohort of Patients with Osteogenesis Imperfecta Evaluated in a Pediatric Hospital.","authors":"Rosario Ramos-Mejía, Francisco Monterroza-Quintana, Claudio Primomo, Rodolfo Goyeneche, Virginia Fano","doi":"10.1055/s-0041-1732476","DOIUrl":"https://doi.org/10.1055/s-0041-1732476","url":null,"abstract":"Acetabular protrusion (AP) is present in 33 to 55% of patients with osteogenesis imperfecta (OI). Even though the finding is relatively common, it is poorly described in pediatric patients. The objective of this study was to describe the incidence and associations of AP in pediatric OI patients. We retrospectively and cross-sectionally evaluated clinical histories and radiographic findings of OI patients aged 2 to 19.5 years, recording sex, age, severity, anthropometric measurements, ambulation status, femoral fractures history, and occurrence of orthopaedic surgeries and nephropathy. AP was considered present when the center-edge (CE) angle was more than 35 degrees and the acetabular line crossed the Kohler's line by more than 1 and 3 mm in boys and girls, respectively, and 3 and 6 mm in adult males and females, respectively. The association with risk factors and complications was analyzed through univariate and multivariate logistic regression. A total of 71 children were evaluated. The median age was 8.6 years, and 54.9% of them had moderate to severe forms of OI. In 71.8% of the children, an abnormal CE angle was found, being frequent in mild, moderate, and severe cases. AP was present in 22.5% of all patients and in 41% of children with moderate to severe OI, and was significantly associated with older ages ( p = 0.0062) and nonwalking status ( p = 0.0093). We found a high prevalence of AP in children with moderate to severe forms of OI, which was present even at younger ages. In addition, we found a significant increase in the number of children with abnormal CE angles even in those with mild forms of OI. The presence of AP was associated with the severity of the OI and age, and in a negative association with the ambulatory status.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9848761/pdf/10-1055-s-0041-1732476.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10581567","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

Chimerism 47,XY, + 8/46,XX: Follow-up for 11 Years. 嵌合47,XY， + 8/46,XX:随访11年。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-03-01 DOI: 10.1055/s-0040-1721440

Acácia Fernandes Lacerda de Carvalho, Paula Monique Leite Pitanga, Esmeralda Santos Alves, Diego Santana Chaves Geraldo Miguel, Laila Damasceno Espirito Santo, Ana Eliete Fernandes de Araújo, Ana Carolina Pereira Ornellas, Maria Betânia Pereira Toralles

引用次数: 1

Fibrosis as a Risk Factor for Cutaneous Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review. 纤维化是隐性萎缩性表皮松解症皮肤鳞状细胞癌的危险因素：系统综述。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-02-24 eCollection Date: 2023-06-01 DOI: 10.1055/s-0043-1763257

Brenda Lamônica Rodrigues de Azevedo, Gabriel Marim Roni, Rosalie Matuk Fuentes Torrelio, Letícia Nogueira da Gama-de-Souza

{"title":"Fibrosis as a Risk Factor for Cutaneous Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review.","authors":"Brenda Lamônica Rodrigues de Azevedo, Gabriel Marim Roni, Rosalie Matuk Fuentes Torrelio, Letícia Nogueira da Gama-de-Souza","doi":"10.1055/s-0043-1763257","DOIUrl":"10.1055/s-0043-1763257","url":null,"abstract":"Recessive dystrophic epidermolysis bullosa (RDEB) is a severe subtype of epidermolysis bullosa caused by changes in collagen VII with a high risk of early development of cutaneous squamous cell carcinoma (cSCC). This review aimed to discuss the relationship between the recurrent healing process, the appearance of fibrosis, and malignant epithelial transformation in RDEB. We searched PubMed, the Regional Portal of the Virtual Health Library, and Embase for articles on the relationship between blistering, recurrent scarring, and fibrosis in the context of cSCC and RDEB. That alterations of collagen VII result in blister formation, scar deficiency associated with inflammation, and increased expression of transforming growth factor β. These events promote the differentiation of myofibroblasts and the expression of profibrotic proteins, leading to structural changes and the establishment of a microenvironment favorable to carcinogenesis. Patients with RDEB and areas of recurrent scarring and fibrosis may be more prone to the development of cSCC.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":null,"pages":null},"PeriodicalIF":0.4,"publicationDate":"2023-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118679/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9756691","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