Clinical phenotype characteristics

Alagille syndrome is an autosomal dominant disorder that affects many various organs. Objectives: Determining the prevalence of clinical and genetic characteristics of children with Alagille syndrome in Children’s Hospital No.1.

7p viwalton 29-06-2024 1 1   Download

Although anaplastic lymphoma kinase (ALK) is overexpressed in several primary solid tumor types, its role in endometrial carcinoma (Em Ca) remains unclear. Methods We evaluated expression of ALK and its related molecules in clinical samples consisting of 168 Em Ca tissues. We also used Em Ca cell lines to evaluate the functional role of ALK.

13p vioracle 29-09-2023 2 2   Download

Collagen type VI-related disorders consist of Ullrich congenital muscular dystrophies (UCMD) and Bethlem myopathy, in which these entities are at two opposite extremes of the phenotype continuum. Clinical characteristics include proximal joint contracture, distal joint hyperlaxity, generalized muscle weakness, normal cognitive function, and pulmonary insufficiency.

9p vimulcahy 18-09-2023 3 3   Download

The study aimed to identify divergences in features, pharmacologic regimens of COPD by clinical phenotypes in the real-life context of care units in Can Tho City that manage outpatients with chronic respiratory diseases.

8p vistarlord 24-06-2023 2 2   Download

Mucolipidosis type II (ML-II, I-cell disease) is a fatal inherited lysosomal storage disease caused by a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase. A characteristic skeletal phenotype is one of the many clinical manifestations of ML-II. Since the mechanisms underlying these skeletal defects in ML-II are not completely understood, we hypothesized that a defect in osteogenic differentiation of ML-II bone marrow mesenchymal stem cells (BM-MSCs) might be responsible for this skeletal phenotype.

8p thiencuuchu 27-11-2021 9 1   Download

Phenotyping asthma according to airway inflammation allows identification of responders to targeted therapy. Induced sputum is technically demanding. We aimed to identify predictors of sputum inflammatory phenotypes according to easily available clinical characteristics.

8p vimontana2711 05-04-2021 13 2   Download

Sarcoidosis is a systemic granulomatous disease of unknown etiology. Clinical cohort studies of different populations are important to understand the high variability in clinical presentation and disease course of sarcoidosis.

14p vimaine2711 26-03-2021 6 2   Download

Chronic obstructive pulmonary disease (COPD) patients with different phenotypes show different clinical characteristics. Therefore, we conducted a meta-analysis to explore the clinical characteristics between the non-exacerbator (NE) phenotype and the frequent exacerbator with chronic bronchitis (FE-CB) phenotype among patients with COPD.

10p vimaine2711 26-03-2021 8 1   Download

Data on single-nucleotide polymorphisms (SNPs) have been found to be useful in predicting phenotypes ranging from an individual’s class membership to his/her risk of developing a disease. In multi-class classification scenarios, clinical samples are often limited due to cost constraints, making it necessary to determine the sample size needed to build an accurate classifier based on SNPs.

8p vikentucky2711 26-11-2020 12 0   Download

Endometrial cancers (ECs) are one of the most common types of malignant tumor in females. Substantial efforts had been made to identify significantly mutated genes (SMGs) in ECs and use them as biomarkers for the classification of histological subtypes and the prediction of clinical outcomes.

11p viconnecticut2711 29-10-2020 12 1   Download

Although diagnosed less often, breast cancer in African American women (AAW) displays different characteristics compared to breast cancer in Caucasian women (CW), including earlier onset, less favorable clinical outcome, and an aggressive tumor phenotype.

8p virose2711 25-09-2020 11 1   Download

Although invasive lobular carcinoma (ILC) of the breast differs from invasive ductal carcinoma (IDC) in numerous respects - including its genetics, clinical phenotype, metastatic pattern, and chemosensitivity - most experts continue to manage ILC and IDC identically in the adjuvant setting.

11p vilisa271 22-09-2020 10 1   Download

CTCs expressing variable levels of epithelial and mesenchymal markers in breast cancer have previously been reported. However, no information exists for keratin expression levels of CTCs in association with disease status, whereas assays for the characterization of transitional EMT phenotypes of CTCs in breast cancer are rather lacking.

10p vialabama2711 21-09-2020 10 1   Download

Cell fusion is a natural process in normal development and tissue regeneration. Fusion between cancer cells and macrophages generates metastatic hybrids with genetic and phenotypic characteristics from both maternal cells. However, there are no clinical markers for detecting cell fusion in clinical context.

11p vimoscow2711 29-08-2020 6 1   Download

Triple negative breast cancers (TNBC) possess cell dedifferentiation characteristics, carry out activities connate to those of cancer stem cells (CSCs) and are associated with increased metastasis, as well as, poor clinical prognosis. The regulatory mechanism of this highly malignant phenotype is still poorly characterized.

18p vinaypyidaw2711 26-08-2020 7 2   Download

The continuous change in microbial sensitivity to antimicrobial agents necessitates to have knowhow of local susceptibility patterns so as to help clinicians choose the right pathogen specific antimicrobial therapies. This retrospective study assessed the phenotypic characteristics of pathogens isolated from different clinical specimens and their susceptibility to some of second line of antibiotics like Ceftriaxone-Sulbactam-EDTA (CSE-1034), Meropenem, Piperacillin-Tazobactam (Pip/Taz) and Cefaperazone-Sulbactam used in our hospital settings.

9p trinhthamhodang1213 29-05-2020 8 0   Download

In the clinical mycology laboratory, the identification of yeast species is done by screening in specific media, such as chromogenic agar for Candida species and Niger seed agar for Cryptococcus species, both of which are of clinical interest. This study aimed to evaluate the growth and morphological characteristics of yeasts of the Candida and Cryptococcus species in different culture media.

10p cothumenhmong5 17-05-2020 11 1   Download

In Egypt, Wilson disease seems to be under diagnosed and clinical data on large cohorts are limited. The aim of this study is to highlight the clinical, laboratory and genetic characteristics of this disease in our pediatric population as well as to report our experience with both treatment options and outcome.

11p virubber2711 21-03-2020 38 1   Download

Data on baseline characteristics of children with asthma to predict individual treatment responses are lacking. We aimed to set up a data-collection system which can easily fill this gap in clinical practice.

8p vivalanbo2711 19-03-2020 14 0   Download

Fatty acid oxidation disorders (FAODs) include more than 15 distinct disorders with variable clinical manifestations. After the introduction of newborn screening using tandem mass spectrometry, early identification of FAODs became feasible.

7p vidr2711 19-02-2020 10 0   Download