Journal of pediatric genetics最新文献_第6页

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":"12 2","pages":"97-104"},"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

Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis. 先天性心脏缺陷和 22q11.2 缺失综合征：先天性心脏缺陷和 22q11.2 缺失综合征：20 年来的最新进展和有助于临床诊断的新见解》（A 20-Year Update and New Insights to Aid Clinical Diagnosis.

IF 0.4

Journal of pediatric genetics Pub Date : 2023-02-17 eCollection Date: 2023-06-01 DOI: 10.1055/s-0043-1763258

Bruna Lixinski Diniz, Desirée Deconte, Kerolainy Alves Gadelha, Andressa Barreto Glaeser, Bruna Baierle Guaraná, Andreza Ávila de Moura, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen

{"title":"Congenital Heart Defects and 22q11.2 Deletion Syndrome: A 20-Year Update and New Insights to Aid Clinical Diagnosis.","authors":"Bruna Lixinski Diniz, Desirée Deconte, Kerolainy Alves Gadelha, Andressa Barreto Glaeser, Bruna Baierle Guaraná, Andreza Ávila de Moura, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen","doi":"10.1055/s-0043-1763258","DOIUrl":"10.1055/s-0043-1763258","url":null,"abstract":"Congenital heart defects (CHDs) are one of the most prevalent clinical features described in individuals diagnosed with 22q11.2 deletion syndrome (22q11.2DS). Therefore, cardiac malformations may be the main finding to refer for syndrome investigation, especially in individuals with a mild phenotype. Nowadays, different cytogenetic methodologies have emerged and are used routinely in research laboratories. Hence, choosing an efficient technology and providing an accurate interpretation of clinical findings is crucial for 22q11.2DS patient's diagnosis. This systematic review provides an update of the last 20 years of research on 22q11.2DS patients with CHD and the investigation process behind each diagnosis. A search was performed in PubMed, Embase, and LILACS using all entry terms to DiGeorge syndrome, CHDs, and cytogenetic analysis. After screening, 60 papers were eligible for review. We present a new insight of ventricular septal defect as a possible pivotal cardiac finding in individuals with 22q11.2DS. Also, we describe molecular technologies and cardiac evaluation as valuable tools in order to guide researchers in future investigations.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"12 2","pages":"113-122"},"PeriodicalIF":0.4,"publicationDate":"2023-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118709/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9741623","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

Parents' Supernatural Beliefs on Causes of Birth Defects: A Review from Islamic Perspective. 父母对出生缺陷原因的超自然信仰：从伊斯兰教的角度回顾

IF 0.4

Journal of pediatric genetics Pub Date : 2023-02-08 eCollection Date: 2023-06-01 DOI: 10.1055/s-0043-1761268

Hüseyin Çaksen

{"title":"Parents' Supernatural Beliefs on Causes of Birth Defects: A Review from Islamic Perspective.","authors":"Hüseyin Çaksen","doi":"10.1055/s-0043-1761268","DOIUrl":"10.1055/s-0043-1761268","url":null,"abstract":"In this article, parents' supernatural beliefs on causes of birth defects were reviewed and discussed from Islamic perspective to draw attention to the importance of supernatural powers in Islamic teachings. Birth defects have been known since ancient ages and many people with different birth defects, who lived in antiquity, have been described. Although reasons for birth defects given in early medieval, 13th, 16th, and 21st centuries medical texts showed differences, numerous people in different cultures of the world have believed the effects of supernatural powers can cause birth defects since early medieval ages. Sixteenth century medical authors associated biomedical explanations with social upheavals and theology in order to understand the individual sins and the signs of the times presented by Allah through malformed human births. However, there is no religious phrase mentioning about causes of birth defects in medical textbooks of the 21st century. Based on the Islamic teachings, we would like to emphasize that supernatural beliefs including \"Allah's will and qadar,\" \"a test from Allah,\" \"a punishment from Allah,\" \"nazar (evil eye),\" \"sihr (magic or sorcery),\" and \"jinn possession\" believed by parents as a cause of birth defects are right, real, and true, and not superstition or misconception. The Quran says \"everything is determined by Almighty Allah\" and \"no kind of calamity can occur, except by the leave of Allah.\" So, we strongly believe that religious teachings must be integrated into modern medicine. The need for religion is not only for Muslims but also for all people a need of pre-eternity and posteternity. The unfortunate humanity today suffers in great pain from the constant sorrow and disasters of being deprived of the religion blessing.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"12 2","pages":"105-112"},"PeriodicalIF":0.4,"publicationDate":"2023-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118703/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9741625","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

Contributing Reviewers in 2022. 2022 年的特约评审员。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-01-18 eCollection Date: 2023-03-01 DOI: 10.1055/s-0043-1761176

引用次数: 0

Importance of Religious Coping in Bereaved Parents after the Death of a Child with Genetic Disorder. 遗传病患儿死亡后，宗教应对对丧亲者的重要性。

IF 0.4

Journal of pediatric genetics Pub Date : 2022-12-07 eCollection Date: 2023-06-01 DOI: 10.1055/s-0042-1759781

Hüseyin Çaksen

引用次数: 0

A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis. 儿科人群中罕见的生物素酶缺乏症：基因型表型分析。

IF 0.4

Journal of pediatric genetics Pub Date : 2022-11-01 eCollection Date: 2023-03-01 DOI: 10.1055/s-0042-1757887

Balachander Kannan, Hepzibah Kirubamani Navamani, Vijayashree Priyadharsini Jayaseelan, Paramasivam Arumugam

{"title":"A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.","authors":"Balachander Kannan, Hepzibah Kirubamani Navamani, Vijayashree Priyadharsini Jayaseelan, Paramasivam Arumugam","doi":"10.1055/s-0042-1757887","DOIUrl":"10.1055/s-0042-1757887","url":null,"abstract":"Biotinidase (BTD) deficiency is a rare autosomal recessive metabolic disorder caused by insufficient biotin metabolism, where it cannot recycle the vitamin biotin. When this deficiency is not treated with supplements, it can lead to severe neurological conditions. Approximately 1 in 60,000 newborns are affected by BTD deficiency. The BTD deficiency causes late-onset biotin-responsive multiple carboxylase deficiency, which leads to acidosis or lactic acidosis, hypoglycemia, and abnormal catabolism. BTD deficiency is of two types based on the amount of BTD Enzyme present in the serum. A wide range of pathogenic mutations in the BTD gene are reported worldwide. Mutations in the BTD gene lead to profound and partial BTD deficiency. Profound BTD deficiency results in a severe pathogenic condition. A high frequency of newborns are affected with the partial deficiency worldwide. They are mostly asymptomatic, but symptoms may appear during stressful conditions such as fasting or viral infections. Several pathogenic mutations are significantly associated with neurological, ophthalmological, and skin problems along with several other clinical features. This review discusses the BTD gene mutation in multiple populations detected with phenotypic features. The molecular-based biomarker screening is necessary for the disease during pregnancy, as it could be helpful for the early identification of BTD deficiency, providing a better treatment strategy. Moreover, implementing newborn screening for the BTD deficiency helps patients prevent several diseases.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"12 1","pages":"1-15"},"PeriodicalIF":0.4,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9848769/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9132324","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

Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy. 常见多发性先天畸形综合征与潜在染色质病的模式识别。

IF 0.4

Journal of pediatric genetics Pub Date : 2022-06-27 eCollection Date: 2024-03-01 DOI: 10.1055/s-0042-1748019

Anupriya Kaur, Chakshu Chaudhry, Parminder Kaur, Roshan Daniel, Priyanka Srivastava

引用次数: 0

Ceroid Lipofuscinosis in Children: Author's Reply. 儿童Ceroid Lipofuscinosis:作者回复。

IF 0.4

Journal of pediatric genetics Pub Date : 2022-06-01 DOI: 10.1055/s-0042-1748157

Vykuntaraju K Gowda

引用次数: 0

Ceroid Lipofuscinosis in Children: Correspondence. 儿童Ceroid脂褐质病:对应。

IF 0.4

Journal of pediatric genetics Pub Date : 2022-06-01 DOI: 10.1055/s-0042-1743193

Pathum Sookaromdee, Viroj Wiwanitkit

引用次数: 0