Journal of pediatric genetics最新文献_第6页

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

Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver. 病因不明的肝门部纤维多囊性肝病:外植肝的启示。

IF 0.4

Journal of pediatric genetics Pub Date : 2022-06-01 DOI: 10.1055/s-0040-1716829

Jagadeesh Menon, Mukul Vij, Naresh Shanmugam, Abdul Hakeem, Mettu Srinivas Reddy, Ilankumaran Kaliamoorthy, Mohamed Rela

{"title":"Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver.","authors":"Jagadeesh Menon, Mukul Vij, Naresh Shanmugam, Abdul Hakeem, Mettu Srinivas Reddy, Ilankumaran Kaliamoorthy, Mohamed Rela","doi":"10.1055/s-0040-1716829","DOIUrl":"https://doi.org/10.1055/s-0040-1716829","url":null,"abstract":"Fibropolycystic diseases of the liver comprise a spectrum of disorders affecting bile ducts of various sizes and arise due to an underlying ductal plate malformation (DPM). We encountered a previously unreported variant of DPM, the hilar fibropolycystic disease which we diagnosed in the explant liver. A 2-year-old boy was referred for liver transplantation with a diagnosis of biliary atresia (BA) and failed Kasai portoenterostomy (KPE). He had cirrhosis with portal hypertension along with synthetic failure indicated by coagulopathy and hypoalbuminemia. The child underwent liver transplant successfully. The explant liver had fibropolycystic disease confined to the perihilar liver and hilum. No pathogenic mutation was detected by whole exome sequencing. Fibropolycystic liver disease may represent a peculiar anatomical variant, which can be diagnosed by careful pathological examination of the explant liver. The neonatal presentation of hilar fibropolycystic liver disease can be misdiagnosed as BA.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"11 2","pages":"165-170"},"PeriodicalIF":0.4,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9236736/pdf/10-1055-s-0040-1716829.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10486030","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

Erratum: Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver. 病因不明的肝门部纤维多囊性肝病:外植肝的启示。

IF 0.4

Journal of pediatric genetics Pub Date : 2022-06-01 DOI: 10.1055/s-0040-1718945

Jagadeesh Menon, Mukul Vij, Naresh Shanmugam, Abdul Hakeem, Mettu Srinivas Reddy, Ilankumaran Kaliamoorthy, Mohamed Rela

引用次数: 0

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations. 印度人群中非综合征性听力损失的遗传学景观。

IF 0.4

Journal of pediatric genetics Pub Date : 2022-03-01 DOI: 10.1055/s-0041-1740532

Manisha Ray, Saurav Sarkar, Mukund Namdev Sable

引用次数: 2