Results 181 to 190 of about 47,990 (266)

H Syndrome Associated With Pure Red Cell Aplasia, Rosai–Dorfman Disease, and Sensorineural Hearing Loss: Phenotypic Variability in Three Children With the Same SLC29A3 Mutation

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT H syndrome is a rare autosomal recessive disorder caused by mutations in the SLC29A3 gene. We report three pediatric patients with a homozygous c.1309G>A (p.Gly437Arg) mutation presenting with distinct phenotypic variations. These cases expand the clinical spectrum and emphasize the importance of early genetic diagnosis and family counseling.
Mohammad Najajrah, Hadeel I. Bouzia, Nermin K. Darawi, Fatima S. Hajjaj, Nour H. Moosa, Noor M. Awad   +5 more
wiley   +1 more source

The Potential Impact of Serum Sodium and Potassium Levels on Sensorineural Hearing Loss and Tinnitus. [PDF]

J Clin Med
Maihoub S, Mavrogeni P, Mavrogenis A, Molnár A.   +3 more
europepmc   +1 more source

CLRN1 Variants in Müller Cells Cause Mitochondrial Dysfunction in USH3A Retinal Organoids

CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
We generated retinal organoids from a patient with USH3A and performed single‐cell RNA sequencing. CLRN1 was specifically expressed in Müller cells, where its variants led to mitochondrial dysfunction and photoreceptor degeneration. ABSTRACT Background Usher syndrome 3A (USH3A), caused by mutations in the CLRN1 gene, leads to retinitis pigmentosa and ...
Rui Zhang, Xinbo Ji, Han Yu, Jingwen Xu, Yu Wang, Ping Sun, Yingxin Wang, Yao Tang, Zexin Zhan, Yichang Jiao, Didi Shan, Pengfei Lin, Dong‐dong Wang, Yuying Zhao, Xianyang Liu, Chuanzhu Yan, Jianqiao Li, Mingfeng Li, Fuchen Liu, Shengping Hou   +19 more
wiley   +1 more source

Impact of contralateral sensorineural hearing loss on prognosis in idiopathic sudden sensorineural hearing loss. [PDF]

PLoS One
Xie S, Chen Z, Huang L, Hong Y, Lin C.
europepmc   +1 more source

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, Volume 11, Issue 4, Page 1184-1199, August 2026.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Delayed Diagnosis of HDR (Hypoparathyroidism, Deafness, and Renal Dysplasia) Syndrome Presenting With Life-Threatening Hypercalcemic Crisis: A Case Report. [PDF]

Cureus
Çordan İ.
europepmc   +1 more source

Neonatal Bloodstream Infections: A Narrative Review on Diagnostic and Therapeutic Challenges and Prospects in Developing Countries

Health Science Reports, Volume 9, Issue 8, August 2026.
ABSTRACT Background Bloodstream infections (BSIs) pose a significant global health challenge, particularly in developing countries. Neonates are highly vulnerable due to underdeveloped immune systems and immature physical barriers, a risk amplified by poor hygiene and limited healthcare access in low‐ and middle‐income countries (LMICs), leading to an ...
Alex Odoom, Abdul‐Halim Osman, Onyansaniba K. Ntim, Fleischer C. N. Kotey, Eric S. Donkor   +4 more
wiley   +1 more source

Heimler Syndrome Caused by Novel <i>PEX6</i> Variants: Clinical and Genetic Characterization in a Saudi Cohort. [PDF]

Genes (Basel)
AlMoallem B.
europepmc   +1 more source

Prognostic Value of Cranial Nerve Invasion in T4‐Stage Nasopharyngeal Carcinoma: A Retrospective Cohort Study With a Median Follow‐Up of 136 Months

Health Science Reports, Volume 9, Issue 8, August 2026.
ABSTRACT Background The objective of this study was to evaluate the prognostic value of cranial nerve invasion (CNI) in T4‐stage nasopharyngeal carcinoma (NPC) patients with nonmetastatic. Methods We retrospectively analyzed 299 T4‐stage NPC patients with nonmetastatic disease in the Cancer Hospital of Shantou University Medical College.
Cuidai Zhang, Hui Liu, Xuejia Liu, Yihao Ye, Zeman Cai, Zewei Chen, Qizhi Zheng   +6 more
wiley   +1 more source

Investigating the Relationship Between Personality Traits and Treatment Adherence With the Mediating Role of Coping Styles in Adults With Presbycusis: A Cross‐Sectional Study

Health Science Reports, Volume 9, Issue 8, August 2026.
ABSTRACT Background Presbycusis, an age‐related hearing disorder, affects communication, psychosocial functioning, and quality of life. Because its management requires long‐term engagement with rehabilitation and medication routines, psychological factors such as personality traits and coping styles may influence treatment adherence.
Zahra Davari, Sara Zamiran, Leila Ganji, Malek Amini, Shirin Keyvan Nasab, Marzieh Pashmdarfard   +5 more
wiley   +1 more source