Medicine
-
Reversible posterior leukoencephalopathy syndrome (RPLS) is a clinicoradiological phenomenon first observed 2 decades ago. Reversibility is the hallmark of this rare clinical phenomenon once the triggering pathology is aptly and adequately treated. Tinnitus preceding bilateral hearing loss as a symptomatology of RPLS has not been reported in the literature. Furthermore, chronic obstructive ureteric calculus with superimposed infections as a cause of RPLS has not been reported in the literature. ⋯ Patients who present with hypertensive encephalopathy maybe more prone to developing RPLS. Renal insufficiency alone or hypertension alone may not be single predisposing entities to RPLS but rather multiple predisposing factors.
-
Spain is one of the European countries most largely affected by COVID-19, being Madrid the epicenter. A good knowledge of the main features of hospitalized patients during the complete lockdown should improve the management of new COVID-19 surges. All patients hospitalized at one large tertiary hospital in Madrid for suspected COVID-19 pneumonia from March 1 to May 31 were retrospectively identified. ⋯ The median Charlson co-morbidity score was 6 in deceased patients. The in-hospital mortality rate during the first wave of COVID-19 in Madrid was 14%. It was largely driven by older age, the presence of underlying chronic conditions (≥2) and living at nursing homes.
-
Case Reports
Clinical and genetic analysis of 2 rare cases of Wiskott-Aldrich syndrome from Chinese minorities: Two case reports.
Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disease characterized by thrombocytopenia, small platelets, eczema, immunodeficiency, and an increased risk of autoimmunity and malignancies. X-linked thrombocytopenia (XLT), the milder phenotype of WAS, is always limited to thrombocytopenia with absent or slight infections and eczema. Here, we illustrated the clinical and molecular characteristics of 2 unrelated patients with WAS from Chinese minorities. ⋯ Our report expands the pathogenic mutation spectrum of WAS gene and emphasizes the importance of molecular genetic testing in diagnosing WAS. Furthermore, researching and reporting rare cases of WAS from different populations will facilitate diagnosis and treatment of this disease.
-
Acquired hemophilia A (AHA) is a rare bleeding disorder caused by autoantibodies against factor VIII (FVIII). Hematological malignancies, especially lymphoid malignancies, are known to be underlying causes of AHA; however, thus far, there is no report of AHA associated with Epstein-Barr-virus-associated T/natural killer-cell lymphoproliferative disease (EBV-T/NK-LPD). Here, we present a case of AHA that developed during treatment for EBV-T/NK-LPD. ⋯ It is speculated that proliferating lymphocytes interfere with normal immune functions and that abnormal autoantibodies are produced from those lymphocytes in patients with LPD. Therefore, we speculate that EBV-infected and proliferating monoclonal NK cells might have modulated the immune system and produced autoantibodies against FVIII, thus causing AHA in this patient with EBV-T/NK-LPD.
-
Our previous study demonstrated that patients with end-stage renal disease had decreased structural and functional brain connectivity, and there was a significant association between brain connectivity and cognitive function. The aim of this study was to evaluate the alterations of structural and functional connectivity using graph theoretical analysis in neurologically asymptomatic patients with relatively early-stage chronic kidney disease (CKD). We enrolled 18 neurologically asymptomatic patients with early CKD and 28 healthy controls. ⋯ In patients with CKD, the functional betweenness centrality of the right insular cortex, right occipital pole, and right thalamus was significantly different from that in healthy participants. There are significant alterations of the global structural connectivity between the patients with CKD and the healthy subjects, whereas the global functional connectivity of the brain network is preserved. We find that the efficiency of the structural brain network is decreased in the patients with CKD.