Articles: disease.
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The Descemet layer is a dense layer of tissue that does not detach under normal circumstances. Descemet layer detachment may occur after intraocular surgery, but the Descemet layer spontaneously detached after trauma in this child, which is relatively rare. After looking for the cause, we found that the child was diagnosed with congenital glaucoma, and the trauma induced the Descemet's membrane detachment. ⋯ The analysis of the disease is not only to solve the problems seen but also to deeply analyze the internal causes and pathological changes in combination with the symptoms and signs, so as to discover the essence of the problem and solve the fundamental problem of the patient.
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Pol. Arch. Med. Wewn. · Jun 2023
Targeted sequencing of a gene panel in patients with Familial Hypercholesterolemia from Southern Poland.
Familial hypercholesterolemia (FH) is an autosomal dominant monogenic lipid metabolism disorder characterized by a significantly elevated level of low‑density lipoprotein (LDL) cholesterol and leading to premature ischemic heart disease. FH is caused by mutations in the LDLR, APOB, and PCSK9 genes; however, these mutations account for only about 40% of FH cases. In order to obtain a genetic diagnosis of FH, sequencing of other genes involved in the lipid metabolism might be useful. ⋯ NGS is a useful and reliable method to detect new variants in genes related to FH. In addition, the results enable the detection of FH phenocopies and introduction of appropriate treatment.
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Assessments of disease burden are important to inform national, regional, and global strategies and to guide investment. We aimed to estimate the drinking water, sanitation, and hygiene (WASH)-attributable burden of disease for diarrhoea, acute respiratory infections, undernutrition, and soil-transmitted helminthiasis, using the WASH service levels used to monitor the UN Sustainable Development Goals (SDGs) as counterfactual minimum risk-exposure levels. ⋯ WHO and Foreign, Commonwealth & Development Office.
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Progress in acute myeloid leukaemia treatment is occurring at an unprecedented pace. The past decade has witnessed an increasingly improved scientific understanding of the underlying biology of acute myeloid leukaemia, leading to enhanced prognostication tools and refined risk assessments, and most especially incorporating measurable residual disease (MRD) into longitudinal risk assessments. ⋯ Treatment options have evolved substantially in the last 5 years for patients with newly diagnosed acute myeloid leukaemia, leading to improved outcomes in intensively treated patients and those more appropriate for non-intensive chemotherapy. More effective targeted treatment options in the relapsed setting are also available, further advancing the treatment armamentarium and improving patient outcomes.