Project description:Clinical History:A 57-year old woman presented with left hand pain, periodic leg movement during sleep, gradual onset of stiffness, clumsiness, and falls. Neurological examination showed: generalized rigidity and bradykinesia. There was left hand dystonic posturing and ideomotor apraxia, as well as mirror movements of upper limbs and stimulus-sensitive myoclonus. The patient had a high-pitched voice and hypophonia (Video S1). Discussion:Experts discuss localization and the syndromic diagnosis and predict the underlying pathology. The pathological diagnosis is then provided and clinical learning points are considered.
Project description:Prevaccination and 6-week postvaccination samples from the immunogenicity substudy (n = 2269) of the zoster vaccine (ZV) efficacy trial (N = 22 439) in 50-59-year-old subjects were examined for varicella-zoster virus-specific antibody responses to vaccination. The varicella-zoster virus geometric mean titer (GMT) and geometric mean fold rise were higher in ZV recipients than in placebo recipients (GMT, 660.0 vs 293.1 glycoprotein enzyme-linked immunosorbent assay units/mL [P < .001], respectively; geometric mean fold rise, 2.31 vs 1.00 [P < .025]). In each group there was a strong inverse correlation between postvaccination GMT and risk of subsequent herpes zoster. Although these data provide strong evidence that relates ZV-induced antibody and the risk of herpes zoster, a protective threshold was not determined. Clinical Trials Registration. NCT00534248.
Project description:A 57-year-old woman was hospitalized due to a type 2 respiratory failure. Electrocardiogram at admission showed inverted T waves in leads V2-V4. Coronary angiogram was performed showing no relevant stenosis. However, this exam allowed visualization of the Thebesian veins outlining the left ventricle.
Project description:Mutations in the SEPSECS gene are associated with pontocerebellar hypoplasia type 2D. Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare autosomal recessive neurodegenerative disorders, mainly affecting pons and cerebellum. Patients have severe motor and cognitive impairments and often die during infancy. Here, we report a 23-year-old woman with slowly progressive cerebellar ataxia and cognitive impairment, in whom a homozygous missense mutation in the SEPSECS gene (c.1321G>A; p.Gly441Arg) was identified with whole exome sequencing. Our findings underline that defects in selenoprotein synthesis can also result in milder cerebellar atrophy presenting at a later age.
Project description:An 82-year-old woman with a history of LD stage SCLC of her left upper lobe nine years earlier, had been treated with five cycles chemotherapy cyclophosphamide, doxorubicin and etoposide (CDE)) resulting in a complete response. She received prophylactic cranial irradiation. Now she presented with a palpable mass in the right supra-clavicular fossa. Her further medical history revealed coronary vascular disease, for which she underwent PTCA; mild aortic valve stenosis and a pacemaker to treat a third degree AV block. She has NYHA class II. She had a history of cigarette smoking but she stopped when SCLC was diagnosed nine years ago. She had no dyspnea
Project description:The varicella zoster virus (VZV) is a latent viral infection and its reactivation has been reported following different conditions such as immunosuppression. This study presents a confirmed case of VZV encephalitis following the first dose administration of the Sinopharm COVID-19 vaccine. A 63-year-old immunocompetent woman who developed VZV encephalitis after first dose administration of Sinopharm COVID-19 vaccine. A final diagnosis of VZV encephalitis was made based on positive CSF PCR results for VZV infection. Treatment was administered with acyclovir and she returned to normal life without any neurological sequelae. In this report, VZV reactivation and VZV encephalitis have been observed after COVID-19 vaccination; however, the results of this report should be considered with some caution, and continued post-vaccine surveillance of adverse events is recommended to explore whether any causal association with VZV reactivation is biologically plausible in this context, or if it is just a coincidence.
Project description:We present the case of a 26-year-old woman with recurrent episodes of severe pain, weakness, and atrophy in her bilateral upper extremities during pregnancy and puerperium. She reported 2 similar episodes at ages 5 and 10 years, after which she fully recovered. On examination, we observed significant atrophy in her bilateral upper extremity muscles with decreased strength. Needle electromyography (EMG) revealed neurogenic damage in her bilateral upper limbs. The patient's clinical manifestations and auxiliary examination suggested a brachial plexopathy. Metabolic and immune factors that may occur during pregnancy and puerperium were evaluated. We also screened for paraneoplastic, neoplastic, and genetic factors. Finally, a hereditary form of disease was considered. This case emphasizes the importance of early diagnosis and avoidance of triggers.