Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.

Hereditary sensory and autonomic neuropathy type 2B (HSAN2B) is a rare autosomal recessive peripheral neuropathy caused by biallelic variants in RETREG1 (formerly FAM134B). HSAN2B is characterized by sensory impairment resulting in skin ulcerations, amputations, and osteomyelitis as well as variable weakness, spasticity, and autonomic dysfunction. Here, we report four affected individuals with recurrent osteomyelitis, ulceration, and amputation of hands and feet, sensory neuropathy, hyperhidrosis, urinary incontinence, and renal failure from a family without any known shared parental ancestry. Due to the history of chronic recurrent multifocal osteomyelitis and microcytic anemia, a diagnosis of Majeed syndrome was considered; however, sequencing of LPIN2 was negative. Family-based exome sequencing (ES) revealed a novel homozygous ultrarare RETREG1 variant NM_001034850.2:c.321G>A;p.Trp107Ter. Electrophysiological studies of the proband demonstrated axonal sensorimotor neuropathy predominantly in the lower extremities. Consistent with the lack of shared ancestry, the coefficient of inbreeding calculated from ES data was low (F = 0.002), but absence of heterozygosity (AOH) analysis demonstrated a 7.2 Mb AOH block surrounding the variant consistent with a founder allele. Two of the four affected individuals had unexplained renal failure which has not been reported in HSAN2B cases to date. Therefore, this report describes a novel RETREG1 founder allele and suggests renal failure may be an unrecognized feature of the RETREG1-disease spectrum.

Diagnostic Transitions from Primary Psychiatric Disorders to Underlying Medical Conditions: A 5-Year Retrospective Survey from a University Hospital Sample.

Background: Undiagnosed underlying medical conditions can cause many patients to be followed, for years, by a diagnosis of a primary psychiatric disorder and to receive inappropriate treatment. The aim of this study was to determine the prevalence of patients initially diagnosed with a primary psychiatric disorder but whose symptoms were later attributed to medical conditions. These patients' initial and final diagnoses were also examined. Methods: The records of 1843 patients hospitalized in Gazi University Faculty of Medicine Psychiatric Inpatient Clinic between 2015 and 2020 were examined in this retrospective and descriptive study. Thirteen patients were excluded from the study due to insufficient data. Descriptive statistics were performed on the data of 30 patients diagnosed with an underlying medical condition. Results: In follow-up, 49 patients' diagnoses changed. 19 patients had a diagnosis unrelated to an underlying medical condition, and 30 had a diagnosis related to an underlying medical condition. Five (16.7%) of the patients, previously known to have psychiatric disorders, were found to have Alzheimer's disease. Brain space-occupying lesions, frontotemporal dementia, epilepsy, Parkinson's disease, and Arnold-Chiari malformation followed Alzheimer's disease at 6.7% (n = 2). The mean time until the diagnosis of the patients was revised was 4.95 years (standard deviation [SD] = 7.78). It was observed that psychotropic medications (90%) were used more than non-psychotropic drugs until the diagnosis was revised. Conclusion: During the diagnostic process, we believe that clinicians should be aware of potential underlying medical conditions and that the multidisciplinary work of psychiatry and neurology is also crucial.

Predictive Value of Supraventricular Short Runs for New-Onset Atrial Fibrillation in Patients with Ischemic Stroke.

Background: The clinical importance of supraventricular run (SVR) is uncertain in the management of patients with previous cerebrovascular events. We aim to evaluate the role of SVRs in the development of future atrial fibrillation (AF) in patients diagnosed with ischemic stroke. Methods: We retrospectively evaluated patients who underwent 24-h Holter monitoring for the evaluation of possible AF after ischemic cerebrovascular events. The presence and duration of SVR were noted. Subsequent diagnosis of AF was searched in patients with sinus rhythm. Results: A total of 694 patients were included in the analysis. SVR was detected in 104 (14.9%) patients in the study group. Seventy-one (10.2%) patients were diagnosed with AF in the follow-up. SVRs were more prevalent among patients with AF (P < 0.001). The median atrial run duration was 5.96 (2.02-17.84) s in the AF absent group vs. 8.76 (3.78-17.62) s in the AF present group (P < 0.001). The best predictive cut-off duration of an atrial run was 8 s (sensitivity = 61.5% and specificity = 74.4%, Area Under Curve (AUC) = 0.708). Cox regression analysis showed that age (odds ratio [OR]: 1.03, 95% confidence interval [CI]: 1.00-1.060, P = 0.020), presence of short supraventricular run (OR: 2.53, 95% CI 1.40-4.57, P = 0.002), and left atrial diameter (OR: 1.13 95% CI: 1.07-1.19, P < 0.001) were the independent predictors of AF development in the follow-up. Conclusion: Age, left atrial diameter, and the presence of SVRs are associated with an increased risk of future AF after ischemic stroke. SVR duration may be an important parameter in risk stratification.

Posterior Circulation Alberta Stroke Program Early Computed Tomography Score (pc-ASPECT) for the Evaluation of Cerebellar Infarcts.

BACKGROUND: Patients with cerebellar ischemic stroke may be misdiagnosed and may exhibit a delayed time to acute stroke treatment compared with patients with anterior circulation ischemic stroke. The posterior circulation Alberta stroke program early computed tomography score (pc-ASPECT) score has been used to evaluate hyperacute stroke, much as the ASPECT in anterior circulation stroke recently. Our main objective was to evaluate the associations of the clinical and etiological characteristics of ischemic cerebellar infarction patients on admission with their pc-ASPECT scores, as well as the correlations of the pc-ASPECT score with morbidity and mortality rates. MATERIALS AND METHODS: We include 114 patients with cerebellar infarction who underwent 1 year of follow-up into the study. RESULTS: Patients with a pc-ASPECT score <7 were more likely to present with impaired consciousness ( P <0.001), multiple posterior circulation infarcts ( P <0.001), hydrocephalus ( P <0.001), lesions of the vermis ( P =0.028), and peduncle ( P =0.024), perfusion deficits in the total of posterior inferior cerebellar artery, anterior inferior cerebellar artery, superior cerebellar artery ( P <0.05), and basilar artery stenosis ( P =0.005), ischemia in additional anatomical structures in the posterior circulation ( P <0.001) compared with those with a score ≥7. CONCLUSIONS: Although the pc-ASPECT score alone is insufficient in some cases like vertebral artery dissection, using it together with the National Institutes of Health Stroke Scale (NIHSS) score and clinical findings may be beneficial during the hyperacute period of cerebellar ischemia. Presentation with impaired consciousness, basilar artery pathologies, vermian ischemia, and ischemia in additional anatomical structures in the posterior circulation other than the cerebellum appeared as important clinical and radiologic parameters predicting long-term prognosis.

QT interval alterations in epilepsy: A thorough investigation between epilepsy subtypes.

OBJECTIVES: Cardiac disturbances and rhythm abnormalities which potentially lead sudden unexpected death in epilepsy, have been extensively studied in focal epilepsies. However, studies including generalized epilepsies are scarce and it is not clear whether electrocardiogram parameters reflecting vulnerability to ventricular arrhythmias differ between these groups. METHODS: Medical records of patients who were followed in epilepsy department of a tertiary center between October 2015 and September 2016 were retrospectively reviewed. 66 generalized and 64 focal epilepsy patients with eligible electrophysiological data were analyzed. QTc interval, QTcd and other electrocardiographic indices were compared between patients with focal vs generalized epilepsy. Another analysis was performed in order to disclose any difference between patients with epilepsy (n:130) and psychogenic non-epileptic seizures. A two-tailed p value < 0.05 was considered significant. RESULTS: There was no difference in terms of QTc and QTcd between patients with focal and generalized epilepsy [median: 406 ms vs 404 ms, p = 0.119; and median: 46 ms vs 44 ms, p = 0.497, respectively]. However patients with epilepsy were found to have longer QTc and QTcd when compared to ones with psychogenic non-epileptic seizures (p = 0.035 and p < 0.001, respectively). CONCLUSION: Current findings demonstrate that patients with epilepsy have longer QTc and QTcd than patients with pure psychogenic non-epileptic seizures. Since there was no difference between patients with focal and generalized epilepsy; QTc interval, QTcd and potential susceptibility to cardiac arrhythmias as a result, could be a consequence of epilepsy itself regardless of origin.

Headache features of cerebellar ischemic strokes: Clinical and radiological-experiences of a single center.

The prevalence of headache in stroke has been reported between 8% and 34%. Determining the prevalence, features, and effects on prognosis of cerebellar ischemic strokes that presented with headache solely and/or with other cerebellar signs were the aims of our study.All patients diagnosed with cerebellar ischemia were included. Electronic medical records were reviewed. Patients have been followed up for 6th month. Descriptive statistics were generated. A total of 4763 patients were evaluated retrospectively, 200 patients had cerebellar ischemia and 22 patients of these cerebellar ischemias (11%) had a headache at initial presentation. Ataxia, dysarthria, dysmetria were the most common neurological findings. There was no significant difference whether ischemic lesion single or multiple and whether above or below 1.5 cm diameter. Ischemic lesions generally were in cortical/ juxtacortical layer. According to vascular perfusion areas, 54.5% patients' ischemia was located in PICA (posterior inferior cerebellar artery) territory. Patients presenting with a headache, predominantly had left hemispheric (vermian > hemispheric > pedincular) involvement. Although these patients generally had high modified Rankin Scale scores at the first evaluation, they had low NIHSS (National Institutes of Health Stroke Scale) scores (0-5), and nearly all patients recovered, with low mRS at the 6-month follow-up.Cerebellar ischemic strokes with headache presentation are significantly prevalent in patients with left hemispheric, cortical/juxtacortical, PICA perfusion territory ischemias and are associated with low morbidity unless there was a conscious disorder. We believe this is one of the first studies that evaluated the clinical and radiological parameters of cerebellar stroke patients with headache.