QJM : Monthly Journal of the Association of Physicians

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BACKGROUND: Viral infection outcomes vary widely between individuals, ranging from mild symptoms to severe organ failure and death, and it is clear that host genetic factors play a role in this variability. Type I interferon (IFN) is a critical anti-viral cytokine, and we have previously noted differences in type I IFN levels between world populations. METHODS: In this study, we investigate the interrelationship between regional European genetic ancestry, type I IFN levels, and severe viral infection outcomes...

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BACKGROUND: Kimura's disease (KD) is a rare chronic inflammatory condition characterized by nodules and lymphadenopathy in the head and neck region, exhibiting type II inflammation. Dupilumab is commonly used against type II inflammation. AIM: To evaluate the efficacy and safety of dupilumab in KD patients. DESIGN: The real-world study was conducted in a hospital in China. METHODS: Six male patients with a mean age of 24...

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Ammonium bichromate is a compound used in colour printing. Ingestion of such an agent can lead to Gastrointestinal symptoms which can progress to multiorgan failure most likely Acute kidney injury. we are reporting a case of a 26-year-old patient who presented to the emergency after consumption of ammonium bichromate. He was managed successfully with ascorbic acid without any support of Hemodialysis. This case is reported to highlight the toxicity of ammonium bichromate & importance of timely intervention...

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BACKGROUND: Fabry disease (FD) is a rare X-linked inherited disease caused by mutations in the GLA gene. We established a cohort of FD patients and performed whole-exome sequencing (WES) to identify some novel mutations. AIM: The aim of this study is to investigate the etiology of the novel mutation (c.72G > A, p.Trp24*）in the GLA gene in affected patients by using induced pluripotent stem cells (iPSCs) as a valuable tool. METHODS: We explored the clinical implications of this proband and examined the deleteriousness and conservation of the mutation site through bioinformatics analysis...

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BACKGROUND: During pregnancy, various maternal IgG antibodies are transferred to the developing fetus, some of which may protect the newborn against infection. If a mother and her fetus have different ABO blood groups, then transferred maternal antibodies may plausibly protect the infant against infection. AIM: To determine if maternal-newborn ABO blood group incongruence vs. congruence is associated with a lower risk of serious infection in the infant. DESIGN: Retrospective population-based cohort...