A Novel Methyl-CpG Binding Protein 2 (MeCP2) Variant in an Indian Girl with Rett Syndrome [PDF]
Rett syndrome is an X-linked dominant disorder that is primarily seen in females and is linked to mutations in the gene coding for Methyl-CpG Binding Protein 2 (MeCP2).
Pratiksha Chheda +4 more
doaj +1 more source
Prevalence of Macroprolactinaemia in Women with Hyperprolactinaemia: A Retrospective Study [PDF]
Introduction: Macroprolactinaemia causes asymptomatic hyperprolactinaemia in many patients which leads to misdiagnosis, inappropriate investigation and needless treatment in these patients.
Flavia Almeida +4 more
doaj +1 more source
First Trimester Combined Aneuploidy Screening for Trisomy 21: A Three Years Retrospective Study [PDF]
Introduction: Prenatal testing also known as maternal screening is primarily performed to screen out most common chromosomal anomalies in the foetus using maternal blood.
Varsha Birla +5 more
doaj +1 more source
Nodular Subcutaneous Phaeohyphomycosis due to Medicopsis romeroi in an Immunocompetent Patient [PDF]
Fungal infections like subcutaneous phaeohyphomycosis are uncommon but are increasing lately, especially in tropical regions like India. Identification of correct aetiologic agent is essential as different species can have different organ tropism. Here,
Smita Deshkar +4 more
doaj +1 more source
Avoiding False Rejection in Comparison Studies [PDF]
Aim: Comparison studies are an integral part of method verification in a laboratory. Three cases shared clarify how acceptance criteria should be used carefully before rejecting a new method/analyzer.
Vishal Wadhwa, Puneet Kumar Nigam
doaj +1 more source
Objectives: To determine the effects of yoga therapy on pelvic floor muscle strength, endurance, and health-related quality of life in young women with stress urinary incontinence.
Sadia Shafaq +2 more
doaj +1 more source
The metropolis in retrospect From the trading metropolis to the global metropolis [PDF]
SummaryMetropolization is not a new phenomenon: metropolises have been around for centuries. The prime and permanent function of a metropolis is the coordination of economic activities at a world scale. This function has been applied to different activities in history, depending on technological conditions and economic organization, and consequently it
Bourdeau-Lepage, Lise +1 more
openaire +3 more sources
Myofibroblastoma Breast with Unusual Morphological Features. Cytohistopathogical Diagnostic Pitfalls and Role of Immunohistochemistry-Review of Literature [PDF]
Myofibroblastoma (MFB) is a rare mesenchymal tumour, derived from mammary stromal fibro¬-myofibroblasts, with diverse biological and morphological behaviour.
B. Shivali +3 more
doaj +1 more source
neoANT-HILL: an integrated tool for identification of potential neoantigens
Background Cancer neoantigens have attracted great interest in immunotherapy due to their capacity to elicit antitumoral responses. These molecules arise from somatic mutations in cancer cells, resulting in alterations on the original protein ...
Ana Carolina M. F. Coelho +5 more
doaj +1 more source

