Results 51 to 60 of about 8,276 (254)

RNA‐Based Therapies for Inherited Metabolic Disorders

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri   +5 more
wiley   +1 more source

Progress in RNA‐Targeted Therapeutics for Human Diseases

open access: yesMedComm, Volume 7, Issue 2, February 2026.
RNA‐targeted therapies are revolutionizing molecular medicine by transitioning from a “protein‐centric” focus to an “RNA‐regulatory network” approach. Leveraging RNA's diverse roles in gene regulation, signaling, and epigenetic modifications, advanced platforms such as ASOs, siRNA, miRNA, mRNA, aptamers, shRNA, and CRISPR/Cas systems are enabling ...
Wangzheqi Zhang   +10 more
wiley   +1 more source

Porphyric encephalopathy in a 15-year-old girl: A case report

open access: yesSAGE Open Medical Case Reports
A 15-year-old girl presented with new onset tonic-clonic seizures, encephalopathy, abdominal pain, and hypertension with a history of weight loss and emesis.
Saihari S Dukkipati   +6 more
doaj   +1 more source

Acute Intermittent Porphyria Associated with Respiratory Failure: A Multidisciplinary Approach

open access: yesCritical Care Research and Practice, 2011
Despite being challenging, delivery of effective nursing care to patients with acute intermittent porphyria is a matter of utmost importance. In this paper, the diversity of symptoms and the difficult diagnosis of this condition are emphasized, and ...
Mayra Gonçalves Menegueti   +6 more
doaj   +1 more source

Nephrogenic syndrome of inappropriate antidiuresis secondary to an activating mutation in the arginine vasopressin receptor AVPR2. [PDF]

open access: yes, 2016
CONTEXT: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD), resulting from activating mutations in the arginine vasopressin receptor type 2 (AVPR2), is a rare cause of hyponatraemia.
Adrogué   +35 more
core   +2 more sources

Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case Report

open access: yesJIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Leukodystrophy due to biallelic HMBS variants is a rare condition distinct from acute intermittent porphyria (AIP). It is characterised by progressive leukoencephalopathy rather than acute attacks of neurovisceral symptoms. We report the ongoing clinical progression of a patient with leukodystrophy due to homozygous variants in HMBS [c.251C>A,
Jeremy Clark   +6 more
wiley   +1 more source

Worsening abdominal pain leading to false laparotomy: a case of acute intermittent porphyria

open access: yesJournal of the Pakistan Medical Association
Acute intermittent porphyria (AIP), one of the most severe types of acute hepatic porphyria, is an autosomal dominant inherited disorder of heme biosynthesis. We present a case of a 16-year-old girl who presented with severe abdominal pain, subjected to
Tehreem Farah   +4 more
doaj   +1 more source

Developing the FIGO‐IPPS “R U MOVVING SOMe” classification system for female chronic pelvic pain

open access: yesInternational Journal of Gynecology &Obstetrics, Volume 171, Issue 2, Page 550-565, November 2025.
Abstract The goal was to develop a pragmatic classification system for conditions associated with chronic pelvic pain (CPP), aiming to enhance diagnosis, management, education, and research of CPP. An international, multidisciplinary panel participated in a modified RAND/UCLA Delphi consensus.
Georgine Lamvu   +8 more
wiley   +1 more source

The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives

open access: yesJournal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Liver transplantation (LTx) has become, over the years, an increasingly used therapeutic option in patients with inherited metabolic diseases (IMD). Initially performed for Tyrosinemia Type I and ornithine transcarbamylase deficiency, it now accounts as the second indication for pediatric transplants worldwide. The use of LTx has been extended
Andrea Pietrobattista   +3 more
wiley   +1 more source

Kaposi's sarcoma in a patient with erythroblastopenia and thymoma: Reactivation after topical corticosteroids [PDF]

open access: yes, 1998
We report a 69-year-old female with erythroblastopenia and thymoma who developed lesions of Kaposi's sarcoma (KS) after thymectomy, 2 months after the initiation of therapy with methylprednisolone.
Alomar, A.   +8 more
core   +1 more source

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