Results 61 to 70 of about 11,248 (183)

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

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

Porphyria‐Safe Emergency Management in COVID‐Associated GBS‐Like Neuropathy: Why Early Medication Review Should Accompany PBG/ALA Testing

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT In COVID‐associated acute neuropathy with abdominal pain, seizures, hyponatremia, hypertension, or hepatic involvement, suspected acute intermittent porphyria should prompt both early PBG/ALA testing and immediate porphyria‐safe medication review to avoid worsening neurovisceral attacks before diagnostic confirmation.
Muhammad Abdullah Awan
wiley   +1 more source

Acute intermittent porphyria case in clinical practice internist

Journal of Education, Health and Sport, 2019
Porphyria is group of eight metabolic disorders characterized by defects in hemebiosynthesis. The presentation of porphyria is highly variable, and the symptoms are non specific, which accounts in part for delay sinestablishing a diagnosis.
V. V. Chopyak, Y. F. Tolstyak
doaj   +3 more sources

D‐Allulose as a Low‐Calorie Sweetener: A 30‐Day Randomized, Double‐Blind Study on Gastrointestinal Tolerance and Systemic Safety to Support Its Application in Healthy Diets

Food Science &Nutrition, Volume 14, Issue 7, July 2026.
This graphical abstract presents the key design and findings of a 30‐day trial evaluating the safety of fermented D‐allulose in healthy Chinese adults. Fifty eligible adults were randomized to receive either low‐dose (24 g/day, n = 24) or high‐dose (36 g/day, n = 26) D‐allulose for 30 days.
Lijuan Qi, Junyu Ning, Jiangli Han, Nan Zhang, Wenjing Zhang, Fangfang Wang, Dan Li, Zinan Li, Yanmin Nie, Haiming Jing, Shan Gao   +10 more
wiley   +1 more source

European S2k guidelines on management of autoimmune blistering diseases in children and adolescents

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 7, Page 1137-1161, July 2026.
Autoimmune blistering disorders (AIBDs) in children are rare, challenging to diagnose and treat and often require immunosuppressants. Until now, no paediatric care guidelines existed. The EADV Task Force for AIBDs has developed the consensus‐based recommendations, enabling physicians to adopt a uniform, tailored treatment strategy to improve outcomes ...
A. Nanda, B. Tedbirt, C. Bodemer, M. C. Bolling, M. El Hachem, M. Nikolić, E. Benton, M. Caproni, D. De, D. Didona, K. Drenovska, M. Goebeler, M. Hertl, B. Horváth, M. Kasperkiewicz, D. Kiritsi, M. Larralde, A. V. Marzano, J. Meijer, D. F. Murrell, J. Powell, E. Sprecher, N. S. Chandran, M. M. Tomayko, S. Uzun, N. van Beek, H. Ott, A. Patsatsi, A. Torrelo, A. Welfringer‐Morin, E. Schmidt, P. Joly   +31 more
wiley   +1 more source

Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases

Orphanet Journal of Rare Diseases
Porphyria is a group of rare metabolic disorders caused by mutations in the genes encoding crucial enzymes in the heme biosynthetic pathway. However, the lack of comprehensive genetic analysis of porphyria patients in the Chinese population makes ...
Yinan Wang, Nuoya Li, Songyun Zhang
doaj   +1 more source

Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias

Metabolites, 2014
Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias.
Siddesh Besur, Wehong Hou, Paul Schmeltzer, Herbert L. Bonkovsky   +3 more
doaj   +1 more source

Porphyria Cutanea Tarda Presenting as Erythema-multiforme Like Lesions

Journal of Nepal Health Research Council, 2019
Porphyria cutaneatarda, is the most common type of porphyria.It is characterized by defective uroporphyrinogen III decarboxylase enzyme.It presents with erosion, bulla with milia formation and sometimes with hypertrichosis and abnormal pigmentation ...
Niraj Parajuli, Harendra Kumar Jha, Marcel F Jonkman   +2 more
doaj   +1 more source

Desensitization in patients with hypersensitivity to haem arginate: A case report

World Allergy Organization Journal, 2019
Background: Porphyria comprises a group of metabolic disorders caused by the irregular activities of enzymes within the haem biosynthetic pathway. This disease can provoke a large variety of symptoms.
Edgardo Chapman, Drixie Leal, Eugenio Matijasevic, Elizabeth García   +3 more
doaj   +1 more source