Results 201 to 210 of about 53,350 (292)

Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist, Sumit Parikh, Thomas van Overeem Hansen, Flemming Wibrand, Elsebet Østergaard   +4 more
wiley   +1 more source

Lipid Profile in Primary Aldosteronism: Cross‐Sectional and Post‐Treatment Analyses

Lipids, Volume 61, Issue 4, Page 527-535, July 2026.
ABSTRACT The relationship between primary aldosteronism (PA) and lipid metabolism remains controversial, with inconsistent findings reported in the literature. This study aimed to clarify PA's impact on the lipid profile using both a cross‐sectional comparison with essential hypertension (EH) controls and a longitudinal within‐patient pre‐post ...
Meriem Yazidi, Arige Abid, Chayma Bel hadj Sliman, Elyes Kamoun, Ibtissem Oueslati, Fatma Chaker, Nadia Khessairi, Melika Chihaoui   +7 more
wiley   +1 more source

Homozygous PNPLA6 Mutation (p.Arg1183Trp) Associated With Isolated Cerebellar Ataxia: A Familial Case Report. [PDF]

Cureus
Alawadhi A, Almarzooqi A, Khan M, Alrukn S.   +3 more
europepmc   +1 more source

Stage IIIC Bilateral Dysgerminoma in 46,XY Swyer Syndrome: Preventing Malignancy Through Early Endocrine Evaluation of Primary Amenorrhea

Clinical Case Reports, Volume 14, Issue 7, July 2026.
Chukwuka Elendu, Alamjeet K. Sidhu, Olisa S. Okabekwa, Ayi T. Debua, Ahmed I. Ali   +4 more
wiley   +1 more source

Polymerized Pro‐Estrogen Microneedles via Two Photon Polymerization

Macromolecular Rapid Communications, Volume 47, Issue 14, 20 July 2026.
Acrylic pro‐drugs of 17β‐estradiol were subjected to spatially controlled two‐photon polymerization to create bespoke microneedle geometries with potential biomedical applications for long‐term transdermal hormone delivery. ABSTRACT Two‐photon polymerization (TPP) is a powerful technique to create microscale structures with high precision, offering ...
Yang Lou, John T. Leman, Harper Serringer, Ke Xia, Christopher N. LaFratta, Chaitanya Ullal, Edmund F. Palermo   +6 more
wiley   +1 more source

Unexpected resolution of chronic gastroesophageal reflux disease with testosterone replacement therapy. [PDF]

JCEM Case Rep
Tamang R, Disney B, Foster J.
europepmc   +1 more source

Amenorrhea Induced by Hydrocephalus Due to Tuberculous Meningitis: A Rare Case Report and Literature. [PDF]

Int Med Case Rep J
Adnyana IBPP, Ritonga MA, Rachmawati A, Tjahjadi D, Anwar R, Hartanto AI.   +5 more
europepmc   +1 more source

The Pathogenicity Analysis of a Hypogonadotropic Hypogonadism Patient With the Novel Variant in the Deep Intronic Region of the PROK2 Gene

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We identified a deep intronic variant of PROK2 in one female patient with hypogonadotropic hypogonadism (HH) through whole‐genome sequencing (WGS). In vitro splicing assays and protein structure predictions indicated that this variant was likely pathogenic and might lead to this disease.
Jiali Chen, Yujin Ma, Liping Li, Huifang Peng, Hongwei Jiang   +4 more
wiley   +1 more source

Induction of puberty in hypogonadal forms of primary amenorrhoea: current evidence and future perspectives. [PDF]

Endocr Connect
Profka E, Rodari G, Citterio V, Collini V, Pedroli A, Mantovani G, Giavoli C.   +6 more
europepmc   +1 more source