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During the first hours after stroke onset, neurological deficits can be highly unstable: some patients rapidly improve, while others deteriorate. This early neurological instability has a major impact on long-term outcome. Here, we aimed to determine the genetic architecture of early neurological instability measured by the difference between the National Institutes of Health Stroke Scale (NIHSS) within 6 h of stroke onset and NIHSS at 24 h. A total of 5876 individuals from seven countries (Spain, Finland, Poland, USA, Costa Rica, Mexico and Korea) were studied using a multi-ancestry meta-analyses. We found that 8.7% of NIHSS at 24 h of variance was explained by common genetic variations, and also that early neurological instability has a different genetic architecture from that of stroke risk. Eight loci (1p21.1, 1q42.2, 2p25.1, 2q31.2, 2q33.3, 5q33.2, 7p21.2 and 13q31.1) were genome-wide significant and explained 1.8% of the variability suggesting that additional variants influence early change in neurological deficits. We used functional genomics and bioinformatic annotation to identify the genes driving the association from each locus. Expression quantitative trait loci mapping and summary data-based Mendelian randomization indicate that ADAM23 (log Bayes factor = 5.41) was driving the association for 2q33.3. Gene-based analyses suggested that GRIA1 (log Bayes factor = 5.19), which is predominantly expressed in the brain, is the gene driving the association for the 5q33.2 locus. These analyses also nominated GNPAT (log Bayes factor = 7.64) ABCB5 (log Bayes factor = 5.97) for the 1p21.1 and 7p21.1 loci. Human brain single-nuclei RNA-sequencing indicates that the gene expression of ADAM23 and GRIA1 is enriched in neurons. ADAM23, a presynaptic protein and GRIA1, a protein subunit of the AMPA receptor, are part of a synaptic protein complex that modulates neuronal excitability. These data provide the first genetic evidence in humans that excitotoxicity may contribute to early neurological instability after acute ischaemic stroke.

Moyamoya is a rare cerebrovascular disease of unknown etiology. It can affect both children and adults. Ischemic symptoms are common in younger age while adults presents with intracranial hemorrhage. Cerebral ischemia after hemorrhage within a narrow time frame or simultaneous presentation with both hemorrhage and ischemia in the same clinical setting is a rare encounter. Diagnosis is confirmed by doing cerebral angiogram. Here, we report a case of 46-year-old man who presented with hemiparesis and imaging of brain showed ishaemic stroke initially and subsequently he also developed haemorrhagic stroke. Later, magnetic resonance imaging and digital substraction angiogram of brain confirmed Moyamoya disease. He was managed conservatively with significant improvement of his hemiparesis. Bangladesh Med J. 2019 Jan; 48 (1): 54-58

Key Clinical Message Epidermodysplasia verruciformis (EV) is an extremely rare hereditary skin disease characterized by an abnormal susceptibility to the human papilloma virus (HPV) with an increased risk of cutaneous malignancy. Here we report the first female severe EV case in Bangladesh, a 10‐year‐old girl with a nonsense somatic mutation impacting ANKRD26 gene.

Basal ganglia calcification is associated with chronic hypoparathyroidism. We report a case of 37 year old lady with long standing iatrogenic hypoparathyroidism following total thyroidectomy. The clinical evaluation revealed neurological symptoms but without any neurological deficit. The CT scan of head showed calcification in caudate nucleus and part of lentiform nucleus of basal ganglia and in the cortical and subcortical white matter. Detection of brain calcinosis in patient’s who had total thyroidectomy can guide clinicians to further investigation for possible hypoparathyroidism.DOI: http://dx.doi.org/10.3329/jom.v16i1.22406 J MEDICINE 2015; 16 : 56-58

Amegakaryocytic thrombocytopenia is a rare variety of bone marrow aplasia characterized by thrombocytopenia in association with markedly diminished bone marrow megakaryocytes. It can occur as a component of aplastic anaemia or as an isolated form. Here we report a case of a teenage girl presented with bleeding per vagina and generalized weakness which is diagnosed as a case of amegakaryocytic thrombocytopenia by bone marrow examination. It will evolve into aplastic anaemia with the course of the disease.DOI: http://dx.doi.org/10.3329/jom.v14i2.19690 J Medicine 2013, 14(2): 207-209

not availableBangladesh J Medicine Jul 2017; 28(2) : 107