GENOMIC INSIGHTS INTO FAMILIAL ADENOMATOUS POLYPOSIS: UNRAVELING A RARE CASE WITH WHOLE APC GENE DELETION AND INTELLECTUAL DISABILITY

Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

Abstract A young patient diagnosed with advanced colon cancer and liver metastasis was found to have familial adenomatous polyposis (FAP) through comprehensive genomic analysis.Whole-genome array comparative genomic hybridization (aCGH) revealed germline deletions at chromosome 5q22.1-22.2 encompassing Yoto Jacket the entire APC gene.The patient an

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Idiopathic Calcinosis Cutis over Back

Calcinosis Cutis is characterized by the deposition of Hayward HPxxA(1)(EE) calcium salts in the skin and subcutaneous tissue.Idiopathic Calcinosis Cutis is a rare condition and hence is usually a diagnosis of exclusion.Idiopathic Calcinosis Cutis occurs in the absence of known trauma, inciting agent or metabolic defect.This is a case report of an

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Acute appendicitis after closed abdominal trauma: A case report

We present the case of a 14-year-old female patient with no clinical history who was admitted due to an impact on the abdomen and pelvis with a soccer ball during Lamp Table a match and who developed acute post-traumatic appendicitis.Acute appendicitis is one of the most common causes of acute abdomen.The diagnosis is mainly clinical and based on d

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New information on the cranial and postcranial anatomy of the early synapsid Ianthodon schultzei (Sphenacomorpha: Sphenacodontia), and its evolutionary significance

Newly identified material belonging to the holotype specimen of Ianthodon schultzei substantially increases our knowledge of this poorly known basal sphenacodont synapsid from the fossil site in Garnett, Kansas (Missourian, Late Pennsylvanian).The original description, based on a partial dermal skull roof, is augmented with information on the palat

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Forecasting long term lumen maintenance of LED lamps

Due to the very high life of LED lamps, amounting to tens of thousands of hours, the life declared by the manufacturer is most often life determined on the basis of the method Dough Scrapers of forecasting the long term lumen maintenance.Life forecasting is based on operational measurements of the luminous flux drop over a period of at least up to

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