Identification of the rare variant p.Val803Met of WFS1 gene as a cause of Wolfram-like syndrome in a Chinese family
Sign Up to like & getrecommendations! Published in 2020 at "Acta Diabetologica"
DOI: 10.1007/s00592-020-01572-y
Abstract: Wolfram-like syndrome (OMIM #614296) is a rare autosomal dominant disease caused by heterozygous mutations in the WFS1 gene [1]. Its clinical manifestations are highly variable, including sensorineural hearing loss, deafness, optic atrophy and/or diabetes mellitus… read more here.
Keywords: like syndrome; wfs1 gene; wolfram like;
Pathological Findings of the Antral and Pyloric Smooth Muscle in Patients with Gastroparesis-Like Syndrome Compared to Gastroparesis: Similarities and Differences
Sign Up to like & getrecommendations! Published in 2017 at "Digestive Diseases and Sciences"
DOI: 10.1007/s10620-017-4629-4
Abstract: BackgroundGastroparesis (GP)-like syndrome presents with the symptoms of GP but without delayed gastric emptying (GE). Whether GP-like syndrome is part of a spectrum of GP is not clear. This study aimed to compare the histopathological… read more here.
Keywords: like patients; icc loss; patients pyloric; antral pyloric ... See more keywords
Wide QRS in a 2-month infant associated with recurrent ventricular tachycardia: A case of Brugada-like syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "Annales de cardiologie et d'angeiologie"
DOI: 10.1016/j.ancard.2016.12.005
Abstract: We report the case of a 2-month old infant who experienced recurrent sustained ventricular tachycardia (VT) in a structurally normal heart. Resting electrocardiogram (ECG) showed wide QRS with a complete right bundle branch bloc (RBBB)… read more here.
Keywords: ventricular tachycardia; month; case; brugada like ... See more keywords
Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.08.009
Abstract: Biallelic pathogenic variants in KLHL7 are known to result in Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) like phenotype and Bohring-Opitz-like syndrome. In this report, a trio whole-exome sequencing (WES) was performed in proband… read more here.
Keywords: bohring opitz; ciss1 like; btb domain; klhl7 ... See more keywords
Generation of human induced pluripotent stem cell (hiPSC) line UOMi001-A from a patient with Leigh-like syndrome harbouring compound heterozygous variants in ECHS1 gene.
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.101934
Abstract: Leigh syndrome is a rare multi-organ system disorder that affects less than 1 in 5000 births. In cases where clinical heterogeneity makes some presentations difficult to categorize as Leigh syndrome, but are highly suggestive, those… read more here.
Keywords: variants echs1; leigh like; stem cell; like syndrome ... See more keywords
There is more to this fever than meets the eye: A case of neuroleptic malignant-like syndrome (NMLS) secondary to withdrawal of procyclidine and L-dopa on a background of long-standing flupenthixol depot use.
Sign Up to like & getrecommendations! Published in 2020 at "Irish journal of psychological medicine"
DOI: 10.1017/ipm.2020.14
Abstract: This case report highlights the risk of development of Neuroleptic Malignant-Like Syndrome secondary to withdrawal of procyclidine with brief withdrawal of L-dopa and long-term typical antipsychotic depot. The patient responded to reintroduction of procyclidine, sedation… read more here.
Keywords: neuroleptic malignant; case; procyclidine; withdrawal ... See more keywords
Necroptotic debris including damaged mitochondria elicits sepsis-like syndrome during late-phase tularemia
Sign Up to like & getrecommendations! Published in 2017 at "Cell Death Discovery"
DOI: 10.1038/cddiscovery.2017.56
Abstract: Infection with Francisella tularensis ssp. tularensis (Ft) strain SchuS4 causes an often lethal disease known as tularemia in rodents, non-human primates, and humans. Ft subverts host cell death programs to facilitate their exponential replication within… read more here.
Keywords: phase tularemia; damaged mitochondria; infection; sepsis like ... See more keywords
A Case of Progressive Supranuclear Palsy-like Syndrome: Aetiology Revealed
Sign Up to like & getrecommendations! Published in 2022 at "Neuro-Ophthalmology"
DOI: 10.1080/01658107.2022.2063339
Abstract: ABSTRACT In 2015, we published an enigmatic case in Neuro-Ophthalmology regarding an 18-year-old woman who underwent an initially uneventful ascending aortic aneurysm repair. After 48 h, she developed a progressive supranuclear palsy-like syndrome with no… read more here.
Keywords: palsy like; ophthalmology; progressive supranuclear; like syndrome ... See more keywords
Development of Acute Vogt–Koyanagi–Harada-like Syndrome during the Treatment Course with Vemurafenib for Metastatic Melanoma
Sign Up to like & getrecommendations! Published in 2019 at "Ocular Immunology and Inflammation"
DOI: 10.1080/09273948.2019.1597896
Abstract: ABSTRACT Purpose: To report on ocular Vogt–Koyanagi–Harada (VKH)-like syndrome under vemurafenib treatment for metastatic melanoma. Design: A case report. Method: Description of clinical and imaging manifestations including fundus photography, fluorescein, and indocyanine green angiography. Results:… read more here.
Keywords: melanoma; vogt koyanagi; treatment; metastatic melanoma ... See more keywords
Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance
Sign Up to like & getrecommendations! Published in 2021 at "Chinese Medical Journal"
DOI: 10.1097/cm9.0000000000001406
Abstract: Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder characterized by brachydactyly, short stature, joint stiffness, cardiovascular abnormalities, and eye anomalies including microspherophakia, cataracts, ectopia lentis, myopia, and secondary glaucoma. Patients with incomplete WMS signs… read more here.
Keywords: weill marchesani; marchesani like; penetrance; like syndrome ... See more keywords
Ocular Manifestations of Peters Plus-Like Syndrome in 8q21.11 Microdeletion Syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Cornea"
DOI: 10.1097/ico.0000000000003281
Abstract: Purpose: The aim of this study was to report a case of Peters plus-like syndrome, which revealed to have an 8q21.11 microdeletion by copy number variation analysis using exome data. Methods: A 6-month-old Japanese boy… read more here.
Keywords: like syndrome; plus like; peters plus; 8q21 microdeletion ... See more keywords