RESUMO
To elucidate the host genetic loci affecting severity of SARS-CoV-2 infection, or Coronavirus disease 2019 (COVID-19), is an emerging issue in the face of the current devastating pandemic. Here, we report a genome-wide association study (GWAS) of COVID-19 in a Japanese population led by the Japan COVID-19 Task Force, as one of the initial discovery GWAS studies performed on a non-European population. Enrolling a total of 2,393 cases and 3,289 controls, we not only replicated previously reported COVID-19 risk variants (e.g., LZTFL1, FOXP4, ABO, and IFNAR2), but also found a variant on 5q35 (rs60200309-A at DOCK2) that was associated with severe COVID-19 in younger (<65 years of age) patients with a genome-wide significant p-value of 1.2 x 10-8 (odds ratio = 2.01, 95% confidence interval = 1.58-2.55). This risk allele was prevalent in East Asians, including Japanese (minor allele frequency [MAF] = 0.097), but rarely found in Europeans. Cross-population Mendelian randomization analysis made a causal inference of a number of complex human traits on COVID-19. In particular, obesity had a significant impact on severe COVID-19. The presence of the population-specific risk allele underscores the need of non-European studies of COVID-19 host genetics.
RESUMO
Few reports have described assessment methods or exercise interventions in detail for patients isolated with COVID-19. Here, we report our experience of providing physical therapy to these patients based on motor assessment with consideration of infection control. This study involved 4 patients with COVID-19 who needed physical therapy due to a fall or frailty during isolation. The assessment method used was intended to minimize physical contact, to be easily performed, and to reflect muscle strength and balance. Based on the assessment, we created exercise programs and provided exercise intervention to the patients in cooperation with nurses. One patient was discharged early; the other 3 patients showed improved motor function and activities of daily living as a result of the intervention in the acute ward. However, they needed ongoing rehabilitation in the rehabilitation ward. No physical therapists showed signs of COVID-19 infection. Performing motor assessments and providing exercise intervention to these patients isolated with COVID-19 contributed to motor improvement and enabled us to promptly determine whether they needed ongoing rehabilitation.
RESUMO
Several highly specific gene mutations have been discovered in malignant lymphoma. Mutations of the MYD88 gene have been detected in lymphoplasmacytic lymphoma and in some cases of diffuse large B-cell lymphoma. We report here a case in which detection of such mutation led to a definitive diagnosis. A 76-year-old woman developed a fever of unknown origin. Physical findings revealed no evident signs of infection or lymphadenopathy. Although serum sIL-2R levels were high, computed tomography revealed only mild hepatosplenomegaly with no lesions from which a biopsy could be taken. We performed a bone marrow examination, which initially did not lead to a diagnosis. However, due to progressive worsening of the patient’s systemic condition and noted increased splenomegaly on computed tomography, we performed genetic testing which included the above. This testing detected mutation of the MYD88 gene in bone marrow cells. We strongly suspected malignant lymphoma and conducted further detailed examination, which led to the diagnosis of intravascular large B-cell lymphoma. Genetic testing may be an extremely useful method that can serve as a decisive factor in diagnosing malignant lymphoma that is otherwise difficult to diagnose.