Results 31 to 40 of about 3,242 (128)

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

Feigning Acute Intermittent Porphyria

Case Reports in Psychiatry, 2014
Acute intermittent porphyria (AIP) is an autosomal dominant genetic defect in heme synthesis. Patients with this illness can have episodic life-threatening attacks characterized by abdominal pain, neurological deficits, and psychiatric symptoms. Feigning
Rania Elkhatib, Modupe Idowu, Gregory S. Brown, Yasmeen M. Jaber, Matthew B. Reid, Cheryl Person   +5 more
doaj   +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

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

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

Journal 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, Hania Batool, Nasir Ashraf, Fatima Qayyum Abbasi, Aisha Nasir   +4 more
doaj   +1 more source

The “5L” framework of diagnostic reasoning: A stepwise scaffold to support clinician educators

Journal of Hospital Medicine, Volume 21, Issue 6, Page 665-669, June 2026.
Abstract Diagnostic reasoning (DR) is a core clinical skill, yet its teaching remains variable. We introduce the “5L” framework as a bedside teaching scaffold that gives educators and learners a shared, stepwise set of prompts for DR during individual encounters. By asking, “What's Lethal? What's Likely? What's Logical? What's Lurking?
Olivia Brumfield, Amal Mohamed, Shuhan He, Cory Rohlfsen   +3 more
wiley   +1 more source