Results 101 to 110 of about 105,547 (226)
Evolução fenotípica na adrenoleucodistrofia.
Acta Médica Portuguesa, 2003 The X-linked adrenoleukodystrophy (ALD) is a genetic disease, caused by a defect mapped to Xq28. It is characterised by progressive demyelination of the cerebral white matter and adrenal insufficiency.
Paula Mendes +7 more
doaj +1 more source
The effect of missing values using genetic programming on evolvable diagnosis [PDF]
, 2002 Medical databases usually contain missing values due the policy of reducing stress and harm to the patient. In practice missing values has been a problem mainly due to the necessity to evaluate mathematical equations obtained by genetic programming ...
Kalganova, T, Werner, JC
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Clinical Endocrinology, Volume 104, Issue 6, Page 567-573, June 2026.ABSTRACT Context Screening morning serum cortisol is used to select patients for ACTH stimulation testing to diagnose adrenal insufficiency (AI) but may be affected by pre‐analytical factors. Careful consideration to discontinue confounding medications beforehand may preclude the need for subsequent stimulation testing.
Christopher J. Symonds +2 more
wiley +1 more source
Achalasia in a Patient with Polyglandular Autoimmune Syndrome Type II
Case Reports in Gastroenterology, 2015 Achalasia is a rare disease characterized by aperistalsis of the esophageal body and failure of the lower esophageal sphincter to relax. The etiology of this disease remains unknown.
Bashar S. Amr, Chaitanya Mamillapalli
doaj +1 more source
Clinical Case Reports, Volume 14, Issue 5, May 2026.ABSTRACT X‐linked adrenoleukodystrophy (X‐ALD) is a genetic peroxisome disorder linked to ABCD1 mutation, characterized by rapid and complex clinical symptoms. We here report a case of X‐ALD manifesting solely as dysarthria, associated with an undefined mutation in the ABCD1 gene, underscoring the necessity of atypical clinical symptoms in X‐ALD ...
Fu‐Qing Zhang +4 more
wiley +1 more source
Psychotic Disorder as the First Manifestation of Addison Disease: A Case Report. [PDF]
Int J Endocrinol Metab, 2022 Momayez Sanat Z, Mohajeri-Tehrani MR.
europepmc +1 more source
The transformation of community hospitals through the transition to value-based care: Lessons from Massachusetts [PDF]
, 2017 Enabling community hospitals to provide efficient and effective care and maintain competition on par with their academic medical center (AMC) counterparts remain challenges for most states.
Bachman, Sara +4 more
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Skin Hyperpigmentation: An Under‐Recognized Dermatological Clue to Vitamin B12 Deficiency
Clinical Case Reports, Volume 14, Issue 5, May 2026.Hyperpigmentation over the dorsal aspect of both hands, prominently involving the knuckles. ABSTRACT Cutaneous hyperpigmentation, an overlooked manifestation, can be an early sign of vitamin B12 deficiency. This case highlights symmetric pigmentation on the dorsum of hands and palms in a long‐term vegetarian.
Mahesh Mathur +5 more
wiley +1 more source
Ligand‐driven modulation of chaperone–cochaperone networks shapes proteostasis outcomes
Protein Science, Volume 35, Issue 5, May 2026.Abstract Protein homeostasis depends on a delicate interplay between folding and degradation, orchestrated by molecular chaperones. Among them, Hsp90 is a central hub, regulating nearly 10% of the proteome through ATP‐driven conformational cycles and selective interactions with cochaperones.
Andrea Magni +9 more
wiley +1 more source