Turk J Med Sci
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Isolated methylmalonic acidemia (MMA) is caused by complete or partial deficiency of the enzyme methylmalonyl- CoA mutase (mut0 or mut– enzymatic subtype), a defect of its cofactor adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. While onset of the disease ranges from the neonatal period to adulthood, most cases present with lethargy, vomiting and ketoacidosis in the early infancy. Major secondary complications are; growth failure, developmental delay, interstitial nephritis with progressive renal failure, basal ganglia injury and cardiomyopathy. We aimed to demonstrate clinical and molecular findings based on long-term follow up in our patient cohort. ⋯ We have detected two novel mutations, including one splice-site mutation in the MUT gene and one frame shift mutation in the MMAA gene in 37 Turkish patients. We confirm the genotype-phenotype correlation in the study population according to the long-term complications.
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Open or percutaneous renal stone surgery can have an adverse effect on the collecting system of the kidney. We evaluated retrograde intrarenal surgery outcomes in patients with ≤30 mm renal stones who had open or percutaneous renal stone surgery history. ⋯ Our results showed that having a history of open or percutaneous renal stone surgery has a negative effect on the success and complication rates in retrograde intrarenal surgery. Therefore, patients should be well informed before this operation.
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The purpose of this study was to determine effect of age, sex, affected extremity, disability severity, treatment type, cerebrovascular accident (CVA) etiology, number of treatment sessions, and CVA duration on the functional improvement of the stroke patients who participated in a physical medicine and rehabilitation program. ⋯ Results show that functional improvement after rehabilitation was better in the younger ages, shorter CVA durations and moderate functional disturbances. The findings obtained may be useful for stroke rehabilitation triage.
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To investigate the relationship between imaging findings and peripheral blood cell counts of COVID-19 patients and the degree of thymus fat involution of these patients. ⋯ The severity of imaging findings for COVID-19 patients significantly correlates with the degree of fat involution in patients’ thymus tissue.
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COVID-19 syndrome due to the SARS-CoV-2 virus is a currently challenging situation ongoing worldwide. Since the current pandemic of the SARS-CoV-2 virus is a great concern for everybody in the World, the frequently asked question is how and when the COVID-19 process will be concluded. The aim of this paper is to propose hypotheses in order to answer this essential question. As recently demonstrated, SARS-CoV-2 RNAs can be reverse-transcribed and integrated into the human genome. Our main hypothesis is that the ultimate aim of the SARS-CoV-2 virus is the incorporation to human genome and being an element of the intestinal virobiota. ⋯ Elucidation of the functional viral dynamics will be helpful for disease management at the individual- and community- based long-term management strategies.