Burkitt Lymphoma of the Appendix with an Insidious Clinical Picture
Sign Up to like & getrecommendations! Published in 2019 at "Indian Journal of Surgery"
DOI: 10.1007/s12262-019-01867-7
Abstract: Burkitt lymphoma (BL) is a highly aggressive B cell non-Hodgkin lymphoma, which represents the fastest growing human tumor with doubling time as short as 25 hours. Three distinct clinical forms of BL have been described: endemic,… read more here.
Keywords: lymphoma appendix; clinical picture; burkitt lymphoma; burkitt ... See more keywords
Expanding the clinical picture of the MECP2 Duplication syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.12814
Abstract: Individuals with two or more copies of the MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype known as MECP2 Duplication syndrome. We have examined perinatal characteristics, early childhood development and… read more here.
Keywords: mecp2 duplication; expanding clinical; duplication; duplication syndrome ... See more keywords
SAT0497 CLINICAL PICTURE OF 7 PAPA PATIENTS FOLLOWED IN A SINGLE PEDIATRIC RHEUMATOLOGIC CENTER
Sign Up to like & getrecommendations! Published in 2019 at "Annals of the Rheumatic Diseases"
DOI: 10.1136/annrheumdis-2019-eular.6176
Abstract: Background: Pyogenic sterile arthritis, pyoderma and acne (PAPA) syndrome is an autosomal dominant inflammatory disorder caused by mutations in the PSTPIP1 gene primarily affecting joints and skin. The E250K mutation cause the hyperzincaemia/hypercalprotectinemia syndrome termed… read more here.
Keywords: none declared; papa patients; none; arthritis ... See more keywords
Evolving Clinical Picture of Renal Cell Carcinoma: A Population-Based Study from Helsinki
Sign Up to like & getrecommendations! Published in 2019 at "Urologia Internationalis"
DOI: 10.1159/000494363
Abstract: Background: There is a lack of detailed population-based data for renal cell carcinoma (RCC). Objectives: The study aimed to examine the contemporary changes in the clinical picture and treatment of RCC. Methods: A total of… read more here.
Keywords: population based; cell carcinoma; renal cell; clinical picture ... See more keywords
Genotype-phenotype correlations in FSHD
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genomics"
DOI: 10.1186/s12920-019-0488-5
Abstract: BackgroundFacial-scapular-humeral myodystrophy Landouzy-Dejerine (FSHD) is an autosomal dominant disease, the basis of its pathogenesis is ectopic expression of the transcription factor DUX4 in skeletal muscle. There are two types of the disease: FSHD1 (MIM:158900) and… read more here.
Keywords: genotype phenotype; phenotype correlations; correlations fshd; family ... See more keywords
Polymorphisms in Oxytocin and Vasopressin Receptor Genes as a Factor Shaping the Clinical Picture and the Risk of ASD in Males
Sign Up to like & getrecommendations! Published in 2023 at "Brain Sciences"
DOI: 10.3390/brainsci13040689
Abstract: Autism spectrum disorders (ASD) are a heterogeneous group of disorders affecting virtually every population, regardless of their ethnic or socioeconomic background. Their pathogenesis is multifactorial, based on interactions between genetic and environmental factors. The key… read more here.
Keywords: asd; clinical picture; vasopressin receptor; risk ... See more keywords
The Clinical Picture of Patients Suffering from Hypophosphatasia—A Rare Metabolic Disease of Many Faces
Sign Up to like & getrecommendations! Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12040865
Abstract: Hypophosphatasia (HPP) is a rare, and usually diagnosed with delay, genetic disease caused by a mutation in the alkaline phosphatase liver/bone/kidney type (ALPL) gene. Low activity of the alkaline phosphatase (ALP) impairs the hydroxyapatite formation,… read more here.
Keywords: suffering hypophosphatasia; patients suffering; disease; picture patients ... See more keywords
Acute Pulmonary Embolism: Focus on the Clinical Picture
Sign Up to like & getrecommendations! Published in 2018 at "Korean Circulation Journal"
DOI: 10.4070/kcj.2017.0314
Abstract: Acute pulmonary embolism (APE) is characterized by numerous clinical manifestations which are the result of a complex interplay between different organs; the symptoms are therefore various and part of a complex clinical picture. For this… read more here.
Keywords: acute pulmonary; pulmonary embolism; clinical picture; embolism focus ... See more keywords