Irish journal of medical science
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Microcephaly is a prominent feature of patients with primary autosomal recessive microcephaly 2 (MCPH2) caused by mutations in the WD Repeat Domain 62 (WDR62; OMIM: 613,583). ⋯ Herein, we identified a novel homozygous missense variant in the WDR62 in two patients with MCPH2. Vertical nystagmus and sensorineural hearing loss were detected as novel neurological findings. The present study expands the phenotype and genotype spectrum of MCPH2.
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The COVID-19 pandemic and its associated morbidity, mortality, and economic disruption has reignited interest in simple protective and preventive measures. ⋯ The study showed that medical students and the public had a good knowledge base and positive attitude in regards to hand hygiene. Both groups displayed consensus that the practices are essential, especially within the current pandemic context. However, larger studies, involving multiple universities and a larger portion of the public, may be useful to ascertain whether there is a true difference in the KAP between healthcare students and the general public.
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Step Test (ST) is frequently used to assess dynamic balance and locomotor function in clinical practice. ⋯ The ST is a valid and reliable method in the assessment of dynamic balance ability and locomotor function in patients with TKA. The ST can be used to quantify changes in dynamic balance level and locomotor function in patients with TKA.
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Development of a prediction model using baseline characteristics of COVID-19 patients at the time of diagnosis will aid us in early identification of the high-risk groups and devise pertinent strategies accordingly. Hence, we did this study to develop a prognostic-scoring system for predicting the COVID-19 severity in South India. ⋯ The present study has developed two separate prognostic-scoring systems to predict the COVID-19 severity. This scoring system could help the clinicians and policymakers to devise targeted interventions and in turn reduce the COVID-19 mortality in India.
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Aromatase inhibitors (AI) are the gold standard treatment option for hormone-sensitive postmenopausal women with breast cancer. Several studies had documented the accelerated bone loss associated with AI. ⋯ Despite the known negative effect of ET on bone health of breast cancer patients, implementing a comprehensive bone health program stabilized or improved BMD.