Results 71 to 80 of about 1,674 (114)

Clinical Report and Genetic Analysis of a Patient With Congenital Hyperinsulinism Hyperammonemia Caused by a Novel Missense Mutation in the Structural Domain of the Isoform of the GLUD1 Gene

Clinical Case Reports, Volume 14, Issue 6, June 2026.
This patient was admitted to the hospital 43 h after birth with convulsions and hypoglycemia, presenting as recurrent refractory hypoglycemia that was difficult to control with conventional medication. Whole exome sequencing detected the GLUD1 (NM_005271.3:c.1495G>T, p.Gly499Cys) variant, which was a de novo variant in the patient and was not detected ...
Tingyu Li, Tianyi Liu, Lujuan Li, Yang Liu, Qi Zhang, Xian Cheng, Zhong Li   +6 more
wiley   +1 more source

Identification of diagnostic biomarkers for neonatal necrotizing enterocolitis via machine learning screening and single‐cell virtual gene knockout validation

Journal of Cell Communication and Signaling, Volume 20, Issue 2, June 2026.
Integrated machine learning screening of five gene expression omnibus datasets and 113 algorithm combinations identified three candidate diagnostic biomarkers for neonatal necrotizing enterocolitis: SLC26A3 (downregulated), CCL20, and CXCL5 (both upregulated). Single‐cell RNA sequencing localized CCL20 upregulation predominantly to macrophages.
Xue Liu, Wenqiang Sun, Zengxue Hu, Yihui Li, Jingtao Bian, Xueping Zhu   +5 more
wiley   +1 more source

Neuroendocrine tumors and conotruncal cardiac defects [PDF]

Journal of Cardiovascular and Thoracic Research, 2018
Efrén Martínez-Quintana, Fayna Rodríguez-González   +1 more
doaj   +1 more source

A Cyanotic Dilemma: Nitrobenzene Poisoning—A Case Report

Clinical Case Reports
Acquired methemoglobinemia can rarely be caused by acute nitrobenzene poisoning, presenting as oxygen‐unresponsive, life‐threatening hypoxia. We discuss a case of a 19‐year‐old female who attempted suicide through intentional nitrobenzene poisoning.
Janmejay Kumar Singh, Adrian Villaroman, Jaehoon Kim, Ghazal Majidi, Diana Stefanie Rojas Torres, Mrinal Bhandari, Fazeela Bibi, Khalil E. L. Abdi, Ujjwal Dutta, Sojitra Vani   +9 more
doaj   +1 more source

Clinical and demographic characteristics of adolescents, emerging adults, and young adults presenting to an emergency department following a suicide attempt

JCPP Advances, Volume 6, Issue 2, June 2026.
Abstract Introduction Suicide is a significant public health concern and the second leading cause of death in adolescents and young adults. This study sought to better understand differences in demographic and clinical characteristics of young people who attempted suicide during three phases of this developmental period: late adolescence (14–17 years),
Nicholas M. Brdar, Natasha K. Matta, Chloe A. Miner, Mubashshir R. Bhuiyan, Irmgard G. Pallas, Anna L. Bickersteth, Hailey G. Prokop, Lindsay A. Bornheimer   +7 more
wiley   +1 more source

INCREASED PULMONARY BLOOD FLOW IN NEWBORNS WITH CYANOTIC CONGENITAL HEART DEFECTS AND DUCTUS-DEPENDENT PULMONARY BLOOD FLOW: RESULTS AND FEATURES OF OUTPATIENT POSTOPERATIVE FOLLOW-UP

Acta Medica Leopoliensia
Aim. In patients with cyanotic congenital heart defects, pulmonary blood flow is maintained by a functioning patent ductus arteriosus (PDA). Most patients with complex duct-dependent cyanotic defects require intermediate palliative treatment before ...
Anzhelika Mykhailovska, Olga Borodinova, Raad Tammo   +2 more
doaj   +1 more source

Clinical and Genetic Characterization of Inherited NPRL3 Splice Variants in Two Patients With Epilepsy

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
This study identifies two novel inherited NPRL3 splice variants in Chinese pediatric patients with focal epilepsy, revealing significant genetic heterogeneity, incomplete penetrance, and phenotypic variability that underscores the importance of tailored antiepileptic management.
Shouxing Wang, Jihua Wu, Conglei Song, Yuanzhi He, Zhongli Zhao, Bin Yang   +5 more
wiley   +1 more source

A Rare Clinical Presentation of Variegate Porphyria

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
WGS redirected the diagnostic focus, underscoring the complex interplay between porphyria and a potential MYMK‐related neuromuscular phenotype. ABSTRACT Background Variegate porphyria is a rare heme biosynthesis disorder caused by pathogenic variants in the PPOX gene.
I. Viakhireva, A. Murtazina, A. Orlova, N. Makretskaya, S. Nikitin, M. Skoblov   +5 more
wiley   +1 more source

A Novel Alpha1‐Variant (HBA1:c.‐35T>C) Complexed With the First Reported Hb M‐Saskatoon in the Chinese Population

Molecular Genetics & Genomic Medicine
Background Hemoglobinopathies are genetic disorders characterized by structural or quantitative hemoglobin abnormalities. We report the first documented case globally of a novel alpha1 (α1)‐variant (HBA1:c.‐35T>C) co‐occurring with Hb M‐Saskatoon (HBB:c ...
Yujing Yang, Yunhu Zhao, Luan Luan, Guanghua Li, Qianyun Deng, Yanfen Ge   +5 more
doaj   +1 more source

MYO6 and Heart: A Novel Variant in a Deaf Infant With Supraventricular Tachycardia

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
A novel homozygous frameshift variant in the MYO6 gene (c.2496_2497delAC; p.H833Qfs*5) was identified in a neonate presenting with bilateral congenital sensorineural hearing loss, paroxysmal supraventricular tachycardia (SVT), and prolonged QT interval.
Samira Kalayinia, Tannaz Masoumi, Amirreza Taherkhani, Nejat Mahdieh, Mohammadrafie Khorgami, Majid Maleki   +5 more
wiley   +1 more source