Gaucher's Disease in an Adult Male: A Case Report of a Rare Mutation.

Gaucher's disease is a rare autosomal recessive inborn error of metabolism. As the presentation of this disease is similar to more common diseases like malaria, portal hypertension, hematological disorders, and kala-azar, this rare disease may not be thought of as a differential diagnosis, and a high index of suspicion is required to avoid diagnostic delay. We report a case of type 1 Gaucher's disease in an adult male born out of a consanguineous marriage. He was from a region where the prevalence of infectious diseases and sickle cell anemia is high. He presented with abdominal distension, hepatosplenomegaly, and pancytopenia. Bone marrow biopsy showed the presence of Gaucher cells. Glucocerebrosidase levels showed decreased enzyme activity. The genetic study revealed a very rare mutation that has not been reported in the 1000 Genomes database till now. Retrospectively, the most important clue was his birth out of a consanguineous marriage of his parents.

Glutamate's Effects on the N-Methyl-D-Aspartate (NMDA) Receptor Ion Channel in Alzheimer's Disease Brain: Challenges for PET Radiotracer Development for Imaging the NMDA Ion Channel.

In an effort to further understand the challenges facing in vivo imaging probe development for the N-methyl-D-aspartate (NMDA) receptor ion channel, we have evaluated the effect of glutamate on the Alzheimer's disease (AD) brain. Human post-mortem AD brain slices of the frontal cortex and anterior cingulate were incubated with [3H]MK-801 and adjacent sections were tested for Aß and Tau. The binding of [3H]MK-801 was measured in the absence and presence of glutamate and glycine. Increased [3H]MK-801 binding in AD brains was observed at baseline and in the presence of glutamate, indicating a significant increase (>100%) in glutamate-induced NMDA ion channel activity in AD brains compared to cognitively normal brains. The glycine effect was lower, suggesting a decrease of the co-agonist effect of glutamate and glycine in the AD brain. Our preliminary findings suggest that the targeting of the NMDA ion channel as well as the glutamate site may be appropriate in the diagnosis and treatment of AD. However, the low baseline levels of [3H]MK-801 binding in the frontal cortex and anterior cingulate in the absence of glutamate and glycine indicate significant hurdles for in vivo imaging probe development and validation.

The biphasic phenomenon of cytokine storm in COVID pneumonia.

COVID-19 is a viral disease that commonly presents with mild symptoms with predominant respiratory system involvement. However, it can cause serious complications such as acute respiratory disease, multi-organ dysfunction, especially in patients with comorbidities. As it is a new disease, the full picture of the disease and its complications are not yet fully understood. Moreover, the patients at risk of complications are not well identified, and the data about the biphasic pattern of cytokine storm syndrome are limited. Here, we report the case of a 64-year-old male having diabetes mellitus, hypertension, ischemic heart disease with triple-vessel coronary artery disease tested positive for severe acute respiratory syndrome coronavirus 2, then complicated with acute respiratory distress syndrome and two waves of cytokine storm in 28 days.

Résumé La COVID-19 est une maladie virale qui se présente généralement avec des symptômes bénins avec une atteinte prédominante du système respiratoire. Cependant, il peut entraîner des complications graves telles qu'une maladie respiratoire aiguë, un dysfonctionnement multiviscéral, en particulier chez les patients présentant des comorbidités. Comme il s'agit d'une nouvelle maladie, l'image complète de la maladie et de ses complications n'est pas encore entièrement comprise. De plus, les patients à risque de complications ne sont pas bien identifiés et les données sur le schéma biphasique du syndrome de tempête de cytokines sont limitées. Nous rapportons ici le cas d'un homme de 64 ans ayant un diabète sucré, une hypertension, une cardiopathie ischémique avec coronaropathie tri-vasculaire testé positif au syndrome respiratoire aigu sévère coronavirus 2, puis compliqué d'un syndrome de détresse respiratoire aiguë et deux vagues de tempête de cytokines en 28 jours. Mots-clés: Syndrome de détresse respiratoire aiguë, pneumonie COVID-19, tempête de cytokines, hyperinflammation.