Results 21 to 30 of about 295,934 (166)

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

Clinical Case Reports
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.
Natália Rebeca Alves deAraújo Karpejany, Jose Tiburcio doMonte Neto, Ester Miranda Pereira, Isabel Andrea Ferreira Carvalho, Rafael Melo Santos deSerpa Brandão, Adalberto Socorro daSilva, Tiberio Silva Borges dosSantos, Semiramis Jamil Hadad doMonte   +7 more
doaj   +2 more sources

Acute intermittent porphyria: thein vitroexpression of mutant hydroxymethylbilane synthase

Molecular and Cellular Probes, 1997
Acute intermittent porphyria (AIP) is an inborn error of haem biosynthesis caused by a variety of mutations in the gene coding for hydroxymethylbilane synthase (HMB-S). The entire coding sequence of this gene, from each of three South African AIP patients, was therefore screened for mutations using chemical cleavage mismatch (CCM) analysis and any ...
Michael Moore, W G Lanyon, J M Connor
exaly   +5 more sources

Clinical Features and Outcomes of Acute Intermittent Porphyria Presenting With Acute Quadriparesis: A Case Series and Follow-Up Study. [PDF]

Eur J Neurol
ABSTRACT Introduction A retrospective case series of acute intermittent porphyria (AIP) presenting with acute quadriparesis is described with a focus on patterns of neuropathy and nerve conduction study findings. Methods Six patients with acute polyneuropathy were diagnosed with AIP on the basis of characteristic clinical findings, urine ...
Alhammad RM, Almutawa RA, Ali AS, Alkhawajah NM, Albulaihe HM, Osman AM, AlSheef MA, Alsayed AA, Sulaiman RA, Alharbi KJ.   +9 more
europepmc   +2 more sources

Persistent Beetroot Colored Urine in a Three-Year-Old Child: A Case Report. [PDF]

Clin Case Rep
Clinically manifest porphyria cutanea tarda (PCT) is rare in children. Of ~1400 cases diagnosed at Porphyria Center Sweden, only five were children, all with pathogenic UROD variants and HFE homozygous. Diagnosis is often delayed; in our case, beetroot‐red urine prompted suspicion despite the absence of cutaneous symptoms.
Harper P, Törnhage CJ, Sardh E.
europepmc   +2 more sources

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria

Molecular and Cellular Probes, 1999
Acute intermittent porphyria (AIP) is a low-penetrant, autosomal dominant disorder caused by decreased activity of hydroxymethylbilane synthase (HMBS; MIM 176 000), the third enzyme in the heme biosynthetic pathway. We report the first molecular analysis of HMBS gene mutations in classical AIP patients of German origin.
M O Doss, Y Nordmann, J C Deybach
exaly   +3 more sources

ADAR1 mRNA quantification for predicting HSIL in persons with HIV and abnormal anal cytology. [PDF]

Int J Cancer
What's new? This study introduces ADAR1 mRNA quantification as a promising biomarker for improving high‐grade squamous intraepithelial lesion (HSIL) prediction in HIV‐positive individuals with abnormal anal cytology. With 92% specificity, it reduces unnecessary high‐resolution anoscopies (HRA) by 77%, offering a more efficient and targeted screening ...
Bello-Perez M, Mascarell P, Fernández-González M, García JA, de la Tabla AG, Ledesma C, De la Rica A, Galiana A, López L, Ocete MD, Salvador C, Gimeno C, García-Abellán J, Padilla S, Gutiérrez F, Masiá M.   +15 more
europepmc   +2 more sources

Crystal structures of hydroxymethylbilane synthase complexed with a substrate analog: a single substrate-binding site for four consecutive condensation steps. [PDF]

Biochem J, 2021
Hydroxymethylbilane synthase (HMBS), which is involved in the heme biosynthesis pathway, has a dipyrromethane cofactor and combines four porphobilinogen (PBG) molecules to form a linear tetrapyrrole, hydroxymethylbilane.
Sato H, Sugishima M, Tsukaguchi M, Masuko T, Iijima M, Takano M, Omata Y, Hirabayashi K, Wada K, Hisaeda Y, Yamamoto K.   +10 more
europepmc   +2 more sources

Acute intermittent porphyria: alternative splicing of hydroxymethylbilane synthase mRNA excludes exons 3 and 12

Molecular and Cellular Probes, 1998
The hydroxymethylbilane synthase (HMBS) mRNAs from 44 control individuals and 30 patients suffering from acute intermittent porphyria (AIP), were screened for length differences by reverse transcriptase polymerase chain reaction (RT-PCR) and any abnormalities were characterized by direct sequencing.
Michael Moore, W G Lanyon, J M Connor
exaly   +6 more sources

Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. [PDF]

Hum Mol Genet, 2019
Acute intermittent porphyria (AIP) is an inborn error of heme biosynthesis due to the deficiency of hydroxymethylbilane synthase (HMBS) activity. Human AIP heterozygotes have episodic acute neurovisceral attacks that typically start after puberty ...
Yasuda M, Gan L, Chen B, Yu C, Zhang J, Gama-Sosa MA, Pollak DD, Berger S, Phillips JD, Edelmann W, Desnick RJ.   +10 more
europepmc   +2 more sources

Adolescents may accurately self-collect pharyngeal and rectal clinical specimens for the detection of Chlamydia trachomatis and Neisseria gonorrhoeae infection.

PLoS ONE, 2021
BackgroundThe COVID-19 pandemic illuminated the benefits of telemedicine. Self-collected specimens are a promising alternative to clinician-collected specimens when in-person testing is not feasible.
Gabriella Vavala, Cameron Goldbeck, Claire C Bristow, Chrysovalantis Stafylis, Paul C Adamson, Dianna Polanco, Manuel A Ocasio, Jasmine Fournier, Adriana Romero-Espinoza, Risa Flynn, Robert Bolan, M Isabel Fernandez, Dallas Swendeman, W Scott Comulada, Sung-Jae Lee, Mary Jane Rotheram-Borus, Jeffrey D Klausner, Adolescent Medicine Trials Network (ATN) CARES Team   +17 more
doaj   +1 more source