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   Articles with "report patient" as a keyword



Complex Lymphatic Anomalies: Report on a Patient Registry Using the Latest Diagnostic Guidelines.

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recommendations! Published in 2023 at "Lymphatic research and biology"

DOI: 10.1089/lrb.2022.0041

Abstract: Objective: Generalized lymphatic anomaly (GLA), Gorham-Stout disease (GSD), kaposiform lymphangiomatosis (KLA), and central conducting lymphatic anomaly (CCLA) are rare, multisystem lymphatic disorders, referred to as complex lymphatic anomalies (CLAs). Their etiology remains poorly understood; however,… read more here.

Keywords: diagnostic guidelines; complex lymphatic; report patient; anomalies report ... See more keywords
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The first case report of a patient with acquired factor XIII deficiency in the context of autoimmune encephalitis

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recommendations! Published in 2017 at "Haemophilia"

DOI: 10.1111/hae.13281

Abstract: 8. Venselaar H, Te Beek TA, Kuipers RK, et al. Protein structure analysis of mutations causing inheritable diseases. An eScience approach with life scientist friendly interfaces. BMC Bioinformatics. 2010;11:548. 9. Choi Y, Sims GE, Murphy… read more here.

Keywords: acquired factor; patient acquired; report patient; first case ... See more keywords

Case Report of a Patient with Myasthenia Gravis Requiring a Caesarean Section

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recommendations! Published in 2017 at "Journal of Perioperative Practice"

DOI: 10.1177/1750458917027001-205

Abstract: RS is a 28-year old lady who presented in her first pregnancy to the High-Risk Obstetric Clinic for review in view of her medical history of myasthenia gravis. She was diagnosed with myasthenia gravis (MG)… read more here.

Keywords: report patient; myasthenia; patient myasthenia; myasthenia gravis ... See more keywords

Expanding the Clinical Phenotype Associated with the NIN Gene; Report of a Patient with Short Stature, Microcephaly and Hearing Loss

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recommendations! Published in 2025 at "Archives of Iranian Medicine"

DOI: 10.34172/aim.33542

Abstract: To date, there are very few reports regarding patients with bi-allelic variants in the NIN gene. There is one report of two sisters with severe short stature, microcephaly, and developmental delay with compound heterozygote missense… read more here.

Keywords: short stature; report patient; hearing loss; nin gene ... See more keywords

A Case Report of a Patient with COQ8B Nephropathy Manifesting Atypical Renal Pathological Changes.

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recommendations! Published in 2024 at "Clinical laboratory"

DOI: 10.7754/clin.lab.2024.240706

Abstract: BACKGROUND COQ8B nephropathy is a hereditary mitochondrial kidney disease. Most cases present with steroidresistant nephrotic syndrome and focal segmental glomerulosclerosis, whereas this patient exhibited asymptomatic isolated proteinuria and mild renal histopathology. METHODS Appropriate laboratory tests,… read more here.

Keywords: report patient; histopathology; coq8b nephropathy; case report ... See more keywords