Phenotypic manifestations

The diagnosis of Cushing’s syndrome is challenging; however, through the clinical picture and the search for secondary causes of osteoporosis, it was possible to reach the diagnosis of the case reported. There was an independent, symptomatic ACTH hypercortisolism manifested by typical phenotypic changes, severe secondary osteoporosis and arterial hypertension in a young patient.

9p vitiki 30-01-2024 2 2   Download

Tongue ischemia is a devastatingly rare disease complication that is typically attributed to cranial arteritis, vasculitis, or prolonged oral intubation that manifests in a patient as a phenotypically black or discolored tongue. There have been less than 10 cases reported in the literature, however, documenting tongue ischemia secondary to shock states requiring high-dose vasopressor support.

4p viwhitewolf 03-07-2023 5 2   Download

Examine whether individual, geographic, and economic phenotypes predict missing data on specific drug involvement in overdose deaths, manifesting inequities in overdose mortality data, which is a key data source used in measuring the opioid epidemic.

11p visteverogers 24-06-2023 3 2   Download

Leiomyosarcoma is a rare malignant tumor of smooth muscle origin and represents 10–20% of all soft tissue sarcomas. Primary colon and rectal sarcomas constitute

7p videadpool 05-05-2023 2 2   Download

The widespread use of individual sires for artificial insemination promotes the propagation of recessive conditions. Inadvertent matings between unnoticed carriers of deleterious alleles may result in the manifestation of fatal phenotypes in their progeny.

9p vinarcissa 21-03-2023 3 1   Download

Variable expressivity is a well-known phenomenon in which patients with mutations in one gene display varying degrees of clinical severity, potentially displaying only subsets of the clinical manifestations associated with the multisystem disorder linked to the gene.

10p vialfrednobel 29-01-2022 16 0   Download

Dyskeratosis congenita (DC) is a rare genetic disorder of poor telomere maintenance. Pulmonary fbrosis (PF) related to DC is rarely reported. It is common for DC-associated PF to occur later in life without significant hematological manifestations. Mutations in the genes encoding different components of the telomere maintenance pathway were associated with clinical phenotypes and prognosis.

10p vimackenziebezos 29-11-2021 8 1   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

Many diseases are associated with complex patterns of symptoms and phenotypic manifestations. Parsimonious explanations aim at reconciling the multiplicity of phenotypic traits with the perturbation of one or few biological functions. For this, it is necessary to characterize human phenotypes at the molecular and functional levels, by exploiting gene annotations and known relations among genes, diseases and phenotypes.

11p visilicon2711 20-08-2021 11 1   Download

Multiple epiphyseal dysplasia (MED) is a relatively common skeletal dysplasia mainly involving the epiphyses of the long bones. However, it is a genetically heterogeneous group of diseases sharing certain aspects of the radiologic phenotype.

8p viannito2711 20-04-2021 11 2   Download

GATA-2 transcription factor deficiency has recently been described in patients with a propensity towards myeloid malignancy associated with other highly variable phenotypic features: chronic leukocytopenias (dendritic cell-, monocyto-, granulocyto-, lymphocytopenia), increased susceptibility to infections, lymphatic vasculature abnormalities, and sensorineural deafness.

7p vimontana2711 05-04-2021 9 2   Download

Seventeen hot pepper characters studied manifested higher level of GCV except for seed germination (16.47 %) and seedling dry weight (13.12 %) manifested moderate level of GCV. Phenotypic Co-efficient of Variation (PCV) for germination (16.79%) and seedling dry weight (13.12%) manifested moderate level of PCV.

12p chauchaungayxua11 23-03-2021 11 1   Download

Hajdu-Cheney syndrome (HCS) is a rare inherited skeletal disorder caused by pathogenic mutations in exon 34 of NOTCH2. Its highly variable phenotypes make early diagnosis challenging. In this paper, we report a case of early-onset HCS with severe phenotypic manifestations but delayed diagnosis.

6p vipalau2711 30-12-2020 7 1   Download

Osteoarthritis, rheumatoid arthritis, psoriatic arthritis, and ankylosing spondylitis, all have one clear common denominator; an altered turnover of bone. However, this may be more complex than a simple change in bone matrix and mineral turnover. While these diseases share a common tissue axis, their manifestations in the area of pathology are highly diverse, ranging from sclerosis to erosion of bone in different regions.

20p vimariana2711 22-12-2020 9 1   Download

This work seeks to develop a methodology for identifying reliable biomarkers of disease activity, progression and outcome through the identification of significant associations between high-throughput flow cytometry (FC) data and interstitial lung disease (ILD) - a systemic sclerosis (SSc, or scleroderma) clinical phenotype which is the leading cause of morbidity and mortality in SSc.

15p vikentucky2711 24-11-2020 9 0   Download

An investigation with fourteen genotypes grown under water saving aerobic condition revealed significant difference for all the characters studied except for 1000-grain weight. Number of tillers, and grain yield recorded high phenotypic and high genotypic coefficient of variability. All the characters studied exhibited high heritability and characters like, number of tillers, grain yield and fodder yield recorded high genetic advance as percent over mean.

5p nguaconbaynhay5 16-05-2020 21 2   Download

: Kearns-Sayre Syndrome (KSS) is a multisystem disorder caused by a dysfunction of the oxidative phosphorylation system within mitochondria. Mitochondrial DNA (mtDNA) rearrangements are a key molecular feature of this disease, which manifest a broad phenotypic spectrum.

9p vivalanbo2711 19-03-2020 18 1   Download

Developments in enzyme replacement therapy have kindled discussions on adding Pompe disease, characterized by progressive muscle weakness and wasting, to neonatal screening. Pompe disease does not fit traditional screening criteria as it is a broad-spectrum phenotype disorder that may occur in lethal form in early infancy or manifest in less severe forms from infancy to late adulthood.

10p vichengshin2711 29-02-2020 5 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 11 0   Download

The present study was conducted to determine phenotypic performance, genetic variability, heritability, genetic advance, diversity, correlation and path analysis for yield and seventeen yield attributing characters of forty five sponge gourd germplasm. PCV was higher than GCV for all the traits studied. High PCV and GCV were recorded for number of primary branches, number of fruiting nodes on main stem, sex ratio, fruits per plant and yield per plant. Thirteen characters showed high heritability coupled with high genetic advance.

13p kequaidan2 11-12-2019 39 0   Download