Journal of pediatric genetics最新文献_第8页

De Novo Inverted Duplication Deletion of 4p in a 14-Week-Old Male Fetus Aborted Due to Multiple Anomalies. 一个14周大因多处异常流产的男性胎儿的4p反向重复缺失。

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Journal of pediatric genetics Pub Date : 2021-09-01 Epub Date: 2020-06-19 DOI: 10.1055/s-0040-1713156

Paolo Fontana, Laura Bernardini, Cinzia Lombardi, Maria Grazia Giuffrida, Maria Ciavarella, Anna Capalbo, Marianna Maioli, Francesca Scarano, Giuseppina Cantalupo, Mariateresa Falco, Gioacchino Scarano, Fortunato Lonardo

引用次数: 0

Evaluation and Management of Early Onset Genetic Obesity in Childhood. 儿童期早发性遗传性肥胖的评估与管理。

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Journal of pediatric genetics Pub Date : 2021-09-01 Epub Date: 2021-07-03 DOI: 10.1055/s-0041-1731035

Sonali Malhotra, Ramya Sivasubramanian, Gitanjali Srivastava

引用次数: 11

Klinefelter's Syndrome with Maternal Uniparental Disomy X, Interstitial Xp22.31 Deletion, X-linked Ichthyosis, and Severe Central Nervous System Regression. Klinefelter综合征伴母亲单亲X染色体畸形、间质性Xp22.31缺失、X连锁鱼鳞病和严重中枢神经系统退化。

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Journal of pediatric genetics Pub Date : 2021-09-01 Epub Date: 2020-08-20 DOI: 10.1055/s-0040-1715573

Jennifer Brault, Laurence Walsh, Gail H Vance, David D Weaver

引用次数: 1

Genetic Characterization of a Model Ciliopathy: Bardet-Biedl Syndrome. 一种典型纤毛病的遗传特征:Bardet-Biedl综合征。

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Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-03-31 DOI: 10.1055/s-0040-1708844

Samantha A Kops, Ranjit I Kylat, Shanti Bhatia, Michael D Seckeler, Brent J Barber, Mohammad Y Bader

引用次数: 1

Clinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy. 芳香l -氨基酸脱羧酶缺乏症的印度儿童的临床特征和结果:一种原发性脑脊液神经递质障碍，类似于运动障碍脑瘫。

IF 0.4

Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-07-27 DOI: 10.1055/s-0040-1714690

Vykuntaraju K Gowda, Hemadri Vegda, Balamurugan B Nagarajan, Sanjay K Shivappa

{"title":"Clinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy.","authors":"Vykuntaraju K Gowda, Hemadri Vegda, Balamurugan B Nagarajan, Sanjay K Shivappa","doi":"10.1055/s-0040-1714690","DOIUrl":"https://doi.org/10.1055/s-0040-1714690","url":null,"abstract":"Aromatic L-amino acid decarboxylase (AADC) deficiency is a disorder of neurotransmitter synthesis. It presents with psychomotor delay, dystonia, oculogyric crisis, and autonomic features. There is paucity of literature on this disorder. Hence, we are reporting this series with an objective to study profile and outcome of Indian children with AADC deficiency. In this retrospective review, all case records of genetically confirmed cases of AADC deficiency at the pediatric neurology department in a tertiary care hospital, from March 2014 to March 2020, were analyzed. The data were extracted in a predesigned proforma and analyzed. Out of seven cases, five were males. Median age of onset of symptoms was 4 months but median age of diagnosis was 12 months. All of them had developmental delay, oculogyric crisis, dystonia, increased sweating, intermittent fever, feeding and sleep disturbance, irritability, failure to thrive, axial hypotonia with dyskinetic quadriparesis, and normal magnetic resonance imaging (MRI) of brain and electroencephalogram (EEG). All of them were treated with pyridoxal 5-phosphate, trihexyphenidyl and pramipexole and six cases, in addition, were given bromocriptine. One case was additionally treated with selegiline. One case showed good improvement, five showed partial improvement, and one case expired. In conclusion, AADC deficiency should be suspected in any child with dyskinetic quadriparesis, oculogyric crisis, autonomic disturbances like increased sweating, intermittent fever, and sleep disturbance with normal neuroimaging.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"10 2","pages":"85-91"},"PeriodicalIF":0.4,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110350/pdf/10-1055-s-0040-1714690.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38988421","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

A Case of Neonatal Diabetes Mellitus Due to INS Gene Mutation with Maternal Mosaicism and Atypical Presentation. 新生儿糖尿病因INS基因突变伴母体嵌合体及不典型表现1例。

IF 0.4

Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-05-12 DOI: 10.1055/s-0040-1710341

Varuna Vyas, Deepthi K, Kuldeep Singh

引用次数: 0

Anesthetic Challenges of an Adolescent Patient with Epidermolysis Bullosa and Gitelman's Syndrome Undergoing Posterior Spinal Fusion Surgery. 一名患有大疱性表皮松解症和吉特曼综合征的青少年患者接受后路脊柱融合手术的麻醉挑战。

IF 0.4

Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-04-25 DOI: 10.1055/s-0040-1710329

Edgar E Kiss, Neethu Chandran, Gijo Alex, Patrick Olomu

引用次数: 0

GATA 4 Deletions Associated with Congenital Heart Diseases in South Brazil. 巴西南部地区与先天性心脏病相关的GATA 4缺失

IF 0.4

Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-07-29 DOI: 10.1055/s-0040-1714691

Maiara A Floriani, Andressa B Glaeser, Luiza E Dorfman, Grasiela Agnes, Rafael F M Rosa, Paulo R G Zen

{"title":"GATA 4 Deletions Associated with Congenital Heart Diseases in South Brazil.","authors":"Maiara A Floriani, Andressa B Glaeser, Luiza E Dorfman, Grasiela Agnes, Rafael F M Rosa, Paulo R G Zen","doi":"10.1055/s-0040-1714691","DOIUrl":"https://doi.org/10.1055/s-0040-1714691","url":null,"abstract":"The normal development of the heart comprises a highly regulated machinery of genetic events, involving transcriptional factors. Congenital heart disease (CHD), have been associated with chromosomal abnormalities and copy number variants (CNVs). Our goal was to investigate through the multiplex ligation-dependent probe amplification (MLPA) technique, the presence of CNVs in reference genes for normal cardiac development in patients with CHD. GATA4 , NKX2-5 , TBX5 , BMP4 , and CRELD1 genes and 22q11.2 chromosome region were analyzed in 207 children with CHD admitted for the first time in a cardiac intensive care unit from a pediatric hospital. CNVs were detected in seven patients (3.4%): four had a 22q11.2 deletion (22q11DS) (1.9%), two had a GATA4 deletion (1%) and one had a 22q11.2 duplication (0.5%). No patients with CNVs in the NKX2-5 , TBX5 , BMP4 , and CRELD1 genes were identified. GATA4 deletions appear to be present in a significant number of CHD patients, especially those with septal defects, persistent left superior vena cava, pulmonary artery abnormalities, and extracardiac findings. GATA4 screening seems to be more effective when directed to these CHDs. The investigation of CNVs in GATA4 and 22q11 chromosome region in patients with CHD is important to anticipating the diagnosis, and to contributing to family planning.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"10 2","pages":"92-97"},"PeriodicalIF":0.4,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0040-1714691","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38988422","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: 5

Clinical, Biochemical, Molecular, and Therapeutic Analysis of Maple Syrup Urine Disease in Upper Egypt. 上埃及枫糖浆尿病的临床、生化、分子和治疗分析

IF 0.4

Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-08-10 DOI: 10.1055/s-0040-1715111

Marwa A Dahpy, Tahia H Saleem, Osama M El-Asheer, Ahmed Abd ELrasoul, Amir M Abo Elgeit

{"title":"Clinical, Biochemical, Molecular, and Therapeutic Analysis of Maple Syrup Urine Disease in Upper Egypt.","authors":"Marwa A Dahpy, Tahia H Saleem, Osama M El-Asheer, Ahmed Abd ELrasoul, Amir M Abo Elgeit","doi":"10.1055/s-0040-1715111","DOIUrl":"https://doi.org/10.1055/s-0040-1715111","url":null,"abstract":"Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by mutations in any of the genes encoding for the branched-chain keto dehydrogenase (BCKDH) components. This study screened MSUD patients throughout the whole Upper Egypt describing their symptoms, clinical and laboratory findings, genetic studies, and their treatment, with a 6-month follow-up for their responses. Screening identified three children with MSUD. Homozygous mutation in R195Q single nucleotide polymorphism (SNP) within the BCKDHA gene was found with the second MSUD patient. Follow-up for 6 months to assess the treatment regimens and progression of cases demonstrated that early treatment regimens including a dietary restriction of branched-chain amino acids with L-Carnitine administration could prevent MSUD-associated intellectual disabilities. It was concluded that R195Q SNP is pathogenic, and it may cause inherited forms of MSUD in some patients. MSUD cases have rarely been reported; so these findings will be highly useful for future cases of MSUD in the Upper Egyptian population.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"10 2","pages":"116-125"},"PeriodicalIF":0.4,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0040-1715111","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38906225","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

Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant. 与18q23缺失相关的埃及女婴新生11p14.3-p15.5重复的临床和细胞基因组学特征

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Journal of pediatric genetics Pub Date : 2021-06-01 Epub Date: 2020-04-21 DOI: 10.1055/s-0040-1708554

Hanan H Afifi, Ghada Y El-Kamah, Alaa K Kamel, Sally G Abd Allah, Sayda Hammad, Mohammed M Sayed-Ahmed, Shymaa H Hussein, Amal M Mohamed

{"title":"Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant.","authors":"Hanan H Afifi, Ghada Y El-Kamah, Alaa K Kamel, Sally G Abd Allah, Sayda Hammad, Mohammed M Sayed-Ahmed, Shymaa H Hussein, Amal M Mohamed","doi":"10.1055/s-0040-1708554","DOIUrl":"https://doi.org/10.1055/s-0040-1708554","url":null,"abstract":"Paternal microduplication of 11p14.3-p15.5 causes the clinical manifestations of Beckwith-Wiedemann syndrome (BWS), while microdeletion of 18q23-ter is clinically characterized by short stature, congenital malformations, and developmental delay. We describe a 15-month-old girl presenting with protruding tongue, dysmorphic facial features, moderate developmental delay, umbilical hernia, hypotonia, mild-to-moderate pulmonary hypertension, small patent ductus arteriosus, and mild ventricular septal hypertrophy. Brain magnetic resonance imaging showed mild atrophic changes. Chromosomal analysis revealed 46, XX, add(18)(q23). Fluorescence in situ hybridization using subtelomere 18q and whole chromosome painting 18 showed subtelomere deletion in 18q, and the add segment was not derived from chromosome 18. Microarray-based comparative genomic hybridization detected a 22 Mb duplication of chromosome 11p15.5p14.3 and a 3.7 Mb deletion of chromosome 18q23. The phenotype of the chromosomal rearrangements is probably resulted from a combination of dosage-sensitive genes. Our patient had clinical manifestations of both 18q deletion and BWS.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"10 2","pages":"131-138"},"PeriodicalIF":0.4,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8110358/pdf/10-1055-s-0040-1708554.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38906227","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