Current Issue : April - June Volume : 2019 Issue Number : 2 Articles : 6 Articles
Background: Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is an autosomal recessive\ndisorder with predominant sensory dysfunction and severe complications such as limb destruction. There are\ndifferent subtypes of HSAN2, including HSAN2A, which is caused by mutations in WNK1/HSN2 gene.\nMethods: An Iranian family with four siblings and autosomal recessive inheritance pattern whom initially\ndiagnosed with HSAN2 underwent whole exome sequencing (WES) followed by segregation analysis.\nResults: According to the filtering criteria of the WES data, a novel candidate variation, c.3718C > A in WNK1/\nHSN2 gene that causes p.Tyr1025* was identified. This variation results in a truncated protein with 1025\namino acids instead of the wild-type product with 2645 amino acids. Sanger sequencing revealed that the\nmutation segregates with disease status in the pedigree.\nConclusions: The identified novel nonsense mutation in WNK1/HSN2 in an Iranian HSAN2 pedigree presents\nallelic heterogeneity of this gene in different populations. The result of current study expands the spectrum\nof mutations of the HSN2 gene as the genetic background of HSAN2A as well as further supports the\nhypothesis that HSN2 is a causative gene for HSAN2A. However, it seems that more research is required to\ndetermine the exact effects of this product in the nervous system....
Musical hallucinations are a relatively rare form of auditory hallucination characterized by hearing of music in the absence of any\nexternal stimuli. This phenomenon has been linked to both psychiatric and structural lesions. We present the case of a previously\nhealthy young male whose presentation with musical hallucinations led to the diagnosis of a rare tumour, anaplastic pleomorphic\nxanthoastrocytoma....
Blood culture-negative endocarditis is often severe and difficult to diagnose. It is necessary to emphasize the importance for the\nearly diagnosis and accurate treatment of blood culture-negative endocarditis. Here, we described the relevant clinical information\nof a blood culture-negative but clinically diagnosed infective endocarditis complicated by intracranial mycotic aneurysm, brain\nabscess, and posterior tibial artery pseudoaneurysm. This patient was a 65-year-old man with a 9-month history of intermittent\nfever and died in the end for the progressive neurological deterioration. Although the blood culture is negative, this patient was\nclinically diagnosed as infective endocarditis according to Duke criteria. This patient course was complicated not only by cerebral\nembolism, intracranialmycotic aneurysm, and brain abscess but also by posterior tibial artery aneurysmof the lower extremity.The\nclinical findings of this patient suggest that the confirmatory microbiology is essential for the treatment of blood culture-negative\ninfective endocarditis. Clinicians should be aware of the detriment of blood culture-negative infective endocarditis for its multiple\ncomplications may occur in one patient. The delayed etiological diagnosis and insufficient treatment may aggregate the clinical\noutcome of blood culture-negative infective endocarditi...
Background: In cases showing cerebrospinal fluid (CSF) redistribution as a compensatory mechanism in acute\nintracranial hypertension, the optic nerve sheath diameter (ONSD) can be used to estimate intracranial pressure\n(ICP). However, it remains unclear whether the ONSD can be applied in patients with skull defects after a craniectomy,\nbecause the primary injury or surgical craniectomy may alter the dynamics of the CSF circulation or structure of the\noptical nerve sheath. This study explored the value of the ONSD in patients after a hemicraniectomy.\nMethods: This prospective observational study enrolled patients after a hemicraniectomy. All patients underwent\ninvasive ICP monitoring and ocular ultrasound within 6 h postoperatively. We followed the patients for 6 months and\nevaluated them using the Glasgow Outcome Score (GOS), classifying the outcome as favorable (GOS 4â??5) or\nunfavorable (GOS 1â??3). We evaluated the ONSD in both according to the ICP and neurological outcome...
Objectives. To assess the frequency of different types of diagnostic errors in patients with central nervous system (CNS) infection\nfrom the onset of symptoms to admission to the hospital, where the correct diagnosis was made. Methods. A cross-sectional\nobservational design was used, and the information was collected by interviewing patients and/or their knowledgeable relatives\nas well as reviewing the accompanying medical record documents and hospital records. Results. Of 169 adult patients with CNS\ninfection, 129 (76.33%) were subject to diagnostic errors. Failure in ordering tests and hypothesis generation were the most\ncommon types of diagnostic errors that accounted for more than 70% of errors. Several contributing factors that were associated\nwith incorrect diagnostic hypotheses included failure in taking a patientâ??s comprehensive history such as detecting relevant\nepidemiological clues, conducting a full clinical examination, and interpreting diagnostic evidence.The relationship between poor\nclinical outcome and longer delay from the onset of illness to diagnosis, inappropriate empirical antibiotic therapy, and lower level\nof consciousness on admission were found to be statistically significant. Conclusions. Although diagnosis and management of CNS\ninfection in some patients are straightforward, clinical decision making in facing patients with complex scenarios often requires\nclinical reasoning instead of relying only on intuitive diagnosis. Justification in requesting diagnostic measures and interpretation\nof their results based on clinical findings and patient information could be a critical factor in preventing a substantial number of\ndiagnostic errors in patients with CNS infection....
Background: Cerebrospinal fluid (CSF) biomarkers reflect ongoing processes in the brain. Growth-associated\nprotein 43 (GAP-43) is highly upregulated in brain tissue shortly after experimental ischemia suggesting the CSF\nGAP-43 concentration may be altered in ischemic brain disorders. CSF GAP-43 concentration is elevated in\nAlzheimerâ??s disease patients; however, patients suffering from stroke have not been studied previously.\nMethods: The concentration of GAP-43 was measured in longitudinal CSF samples from 28 stroke patients\nprospectively collected on days 0â??1, 2â??4, 7â??9, 3 weeks, and 3â??5 months after ischemia and cross-sectionally in 19\ncontrols. The stroke patients were clinically evaluated using a stroke severity score system. The extent of the brain\nlesion, including injury size and degrees of white matter lesions and atrophy were evaluated by CT and magnetic\nresonance imaging.\nResults: Increased GAP-43 concentration was detected from day 7â??9 to 3 weeks after stroke, compared to day 1â??4\nand to levels in the control group (P = 0.02 and P = 0.007). At 3â??5 months after stroke GAP-43 returned to admission\nlevels. The initial increase in GAP-43 during the nine first days was associated to stroke severity, the degree of white\nmatter lesions and atrophy and correlated positively with infarct size (rs = 0.65, P = 0.001).\nConclusions: The transient increase of CSF GAP-43 is important to take into account when used as a biomarker for\nother neurodegenerative diseases such as Alzheimerâ??s disease. Furthermore, GAP-43 may be a marker of neuronal\nresponses after stroke and additional studies confirming the potential of CSF GAP-43 to reflect severity and\noutcome of stroke in larger cohorts are warranted....
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