Results 121 to 130 of about 5,752 (241)

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1403-1410, June 2026.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang   +6 more
wiley   +1 more source

Horner syndrome as a postoperative complication of thyroid surgery: a systematic review. [PDF]

open access: yesFront Endocrinol (Lausanne)
Xie T   +8 more
europepmc   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington   +7 more
wiley   +1 more source

Fibroids in obstructed hemivagina and ipsilateral renal anomaly‐like syndrome: Successful hysterectomy and vaginal septoplasty in a kidney transplant recipient with uterus didelphys, vaginal septum and renal agenesis

open access: yes
International Journal of Gynecology &Obstetrics, Volume 174, Issue 1, Page 491-493, July 2026.
Mariana Correia Moreira Cruz   +5 more
wiley   +1 more source

Synthesis of a C‐2 Functionalized l‐Iduronic Acid Derivative as a Candidate Pharmacological Chaperone for MPS II (Hunter Syndrome)

open access: yesChemistry – An Asian Journal, Volume 21, Issue 11, 15 June 2026.
A C‐2 functionalized l‐iduronic acid derivative was designed and synthesized as a candidate pharmacological chaperone for iduronate‐2‐sulfatase (IDS), the enzyme involved in the lysosomal storage disease MPS II (Hunter syndrome). The synthesis overcomes significant synthetic challenges associated with manipulations of L‐ido scaffolds.
Vaibhavi Nagendra   +12 more
wiley   +1 more source

Caffeine and Headache: Exploring the Multifaceted Relationship

open access: yesBrain and Behavior, Volume 16, Issue 6, June 2026.
ABSTRACT Purpose To explore the multifaceted relationship between caffeine and headache disorders, focusing on its dual role as both an analgesic and a potential trigger and to summarize the mechanisms underlying its anti‐nociceptive effects. Method This narrative review synthesizes evidence from experimental, clinical, and epidemiological studies on ...
Mona Hussein   +6 more
wiley   +1 more source

Horner syndrome in a pediatric patient. [PDF]

open access: yesPediatr Investig
Tandon D   +4 more
europepmc   +1 more source

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