Results 31 to 40 of about 3,292 (173)

Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies

Case Reports in Genetics, 2020
Porphyrias are a heterogeneous group of metabolic disorders that result from the altered activity of specific enzymes of the heme biosynthetic pathway and are characterized by accumulation of pathway intermediates.
G. N. Cerbino, L. Abou Assali, L. S. Varela, L. Tomassi, A. Batlle, V. E. Parera, M. V. Rossetti   +6 more
doaj   +1 more source

Overcoming Radiation Resistance: Ferroptosis Induction to Sensitize Solid Tumors to Radiation Therapy

Cancer Medicine, Volume 15, Issue 8, August 2026.
ABSTRACT Radiation therapy (RT) is a mainstay of treatment for a myriad of cancers, often utilized for tumors that are unable to be resected, as well as an adjunct to surgery and chemotherapy. Unfortunately, many cancers are resistant to RT‐induced damage and subsequent cell death.
Joseph Carmicheal, Caden M. Fritson, Alexandra Seas, Heidi Vieira, Surinder K. Batra   +4 more
wiley   +1 more source

Schizophrenic Phenotype and Therapeutic Course Associated With Chromosome 22q11.2 Deletion in a Cohort Without Prior Diagnosis of Chromosome 22q11.2 Deletion Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 5, Page 331-337, July 2026.
ABSTRACT Chromosome 22q11.2 deletion is the greatest single genetic factor predisposing to schizophrenia. The prevalence of schizophrenia reported ranges from 2% to 30% in patients with chromosome 22q11.2 deletion syndrome with a still discussed phenotype.
Micha Gawlik, Paul Schneider, Bruno Pfuhlmann, Jürgen Deckert   +3 more
wiley   +1 more source

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

SAGE 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, Jordan Terschluse, Drew Thodeson, Angela Beavers, Melissa Muff-Luett, Claire Ives, Sookyong Koh   +6 more
doaj   +1 more source

Acute intermittent porphyria (AIP) in a patient with celiac disease

Neurological Research and Practice, 2020
We present the case of an 18 year old Caucasian with known celiac disease, who suffered a severe first attack of acute intermittent porphyria (AIP) with neuropsychiatric symptoms, severe tetraparesis and respiratory insufficiency.
Sebastian Nunnemann, Christoph Uibel, Petra Budig, Mathias Mäurer   +3 more
doaj   +1 more source

Advanced Management of Acute Intermittent Porphyria: The Role of Givosiran Therapy in Improving Long‐Term Outcomes‐A Case Study

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Acute intermittent porphyria is a rare disorder causing neurotoxic precursor accumulation and severe neurological complications. We report a case progressing to tetraplegia and respiratory failure with delayed diagnosis. Treatment with hemin and givosiran resulted in prevention of attacks and functional recovery, highlighting the importance of
Natália Rebeca Alves de Araújo Karpejany, Jose Tiburcio do Monte Neto, Ester Miranda Pereira, Isabel Andrea Ferreira Carvalho, Rafael Melo Santos de Serpa Brandão, Adalberto Socorro da Silva, Tiberio Silva Borges dos Santos, Semiramis Jamil Hadad do Monte   +7 more
wiley   +1 more source

A Diagnostic Pitfall of Primary Aldosteronism Presenting as Recurrent Quadriparesis: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT Quadriparesis refers to weakness affecting all four limbs. While most cases are neurogenic in origin, stemming from central or peripheral nervous system pathology, non‐neurogenic causes are less common and often under‐recognized. These include systemic or metabolic conditions that secondarily impair neuromuscular function.
Javed Shakir, Javeria Benyamin, Muhammad Usman Iqbal, Abdullah Sohail, Aafaq Mazhar, Hafiz Muhammad Abdullah, Erum Habib, Naseeb Danaf   +7 more
wiley   +1 more source

Acute Intermittent Porphyria Associated with Respiratory Failure: A Multidisciplinary Approach

Critical 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, Alkmim-Teixeira Gil Cezar, Karin Aparecida Casarini, Kátia Simone Muniz Cordeiro, Anibal Basile-Filho, Olindo Assis Martins-Filho, Maria Auxiliadora-Martins   +6 more
doaj   +1 more source

Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report

Journal of Medical Case Reports
Background Heterozygous mutations of the hydroxymethylbilane synthase gene can lead to acute intermittent porphyria, with episodic abdominal pain and neuropsychiatric symptoms.
Gabriel Schacht, Miriam Elbracht, Anna-Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, Martin Häusler   +6 more
doaj   +1 more source

Severe Abdominal Pain as a Prominent Clinical Manifestation of Anti‐DPPX Autoimmune Encephalitis: A Case Report and Systematic Review

Immunity, Inflammation and Disease, Volume 14, Issue 6, June 2026.
ABSTRACT Background Anti‐dipeptidyl‐peptidase‐like protein 6 encephalitis (DPPXE) is an exceptionally rare form of autoimmune encephalitis characterized by a highly heterogeneous clinical phenotype. Methods In this study, we report a Chinese patient presenting with severe abdominal pain as a prominent symptom; furthermore, we conducted a systematic ...
Difang Shi, Haohao Wu, Baogang Huang, Yan Zheng, Jia Liu, Jianjian Bao, Fengming Xu, Kang Du   +7 more
wiley   +1 more source