A Homozygous Missense Variant in HSD17B4 Identified in Two Different Families.

Background: Perrault syndrome is an inherited disorder with clinical findings that differ according to sex. It is characterized by a variable age of onset and sensorineural hearing loss in both sexes, as well as ovarian dysfunction in females with a 46,XX karyotype. Although it is a rare autosomal recessive syndrome, with approximately 100 affected individuals reported in the literature, it shows both genotypic and phenotypic variations. Mutations in the HSD17B4 gene have been identified as one of the genetic causes of Perrault syndrome. Case Presentation: A female case and a male case from two different unrelated families with a new variant in the HSD17B4 gene, which were not previously described in the literature and were accompanied by hearing loss, skeletal anomalies, and neurological symptoms, were presented. Conclusion: We defined Perrault syndrome cases in Turkey caused by a novel mutation in HSD17B4. Whole-exome sequencing is a useful diagnostic technique with varying clinical results due to genetic and phenotypic heterogeneity.

Oleuropein Has Modulatory Effects on Systemic Lipopolysaccharide-Induced Neuroinflammation in Male Rats.

BACKGROUND: Neuroinflammation induced by systemic inflammation is a risk factor for developing chronic neurologic disorders. Oleuropein (OLE) has antioxidant and anti-inflammatory properties; however, its effect on systemic inflammation-related neuroinflammation is unknown. OBJECTIVES: This study aimed to determine whether OLE protects against systemic lipopolysaccharide (LPS)-induced neuroinflammation in rats. METHODS: Six-wk-old Wistar rats were randomly assigned to 1 of the following 5 groups: 1) control, 2) OLE-only, 3) LPS + vehicle, 4) OLE+LPS (O-LPS), and 5) a single-dose OLE + LPS (SO-LPS group). OLE 200 mg/kg or saline as a vehicle was administered via gavage for 7 d. On the seventh day, 2.5 mg/kg LPS was intraperitoneally administered. The rats were decapitated after 24 h of LPS treatment, and serum collection and tissue dissection were performed. The study assessed astrocyte and microglial activation using glial fibrillary acidic protein (GFAP) and CD11b immunohistochemistry, nod-like receptor protein-3, interleukin (IL)-1ß, IL-17A, and IL-4 concentrations in prefrontal and hippocampal tissues via enzyme-linked immunosorbent assay, and total antioxidant/oxidant status (TAS/TOS) in serum and tissues via spectrophotometry. RESULTS: In both the O-LPS and SO-LPS groups, LPS-related activation of microglia and astrocytes was suppressed in the cortex and hippocampus (P < 0.001), excluding cortical astrocyte activation, which was suppressed only in the SO-LPS group (P < 0.001). Hippocampal GFAP immunoreactivity and IL-17A concentrations in the dentate gyrus were higher in the OLE group than those in the control group, but LPS-related increases in these concentrations were suppressed in the O-LPS group. The O-LPS group had higher cortical TAS and IL-4 concentrations. CONCLUSIONS: OLE suppressed LPS-related astrocyte and microglial activation in the hippocampus and cortex. The OLE-induced increase in cortical IL-4 concentrations indicates the induction of an anti-inflammatory phenotype of microglia. OLE may also modulate astrocyte and IL-17A functions, which could explain its opposing effects on hippocampal GFAP immunoreactivity and IL-17A concentrations when administered with or without LPS.

An investigation of the effects of chronic zonisamide, sultiam, lacosamide, clobazam, and rufinamide anti-seizure medications on foliculogenesis in ovarian tissue in prepubertal non-epileptic rats.

We aimed to determine the morphological and histological effects of zonisamide, sultiam, lacosamide, clobazam, and rufinamide on ovarian folliculogenesis in rats. Sixty female Wistar rats were divided into six experimental groups as control, zonisamide, sultiam, lacosamide, clobazam, and rufinamide groups; control solution and drugs were administered by gavage for 90 days. The number of healthy follicles in the control group was significantly higher than in the anti-medication groups (p < 0.001), and the number of corpus luteum was significantly lower (p < 0.001). There was a significant difference in the number of TUNEL positive apoptotic follicles between the control and drug groups (p < 0.001). With EGF, IGF-1, and GDF-9 staining, a very strong immunoreaction was observed in the ovarian multilaminar primary follicle granulosa cells and oocytes in the control group compared to the drug group (p < 0.001). Long-term anti-seizure medication with zonisamide, sultiam, lacosamide, clobazam, and rufinamide from prepubertal to adulthood causes apoptosis and disruption of folliculogenesis in the ovarian follicles of nonepileptic rats.

Trends in the choice of antiseizure medications in juvenile myoclonic epilepsy: A retrospective multi-center study from Turkey between 2010 and 2020.

PURPOSE: Valproic acid (VPA) is frequently used and effective in juvenile myoclonic epilepsy (JME). Recently, levetiracetam (LEV) has been suggested as a monotherapy in JME. This study aimed to evaluate antiseizure medication (ASM) use in patients with JME. METHODS: Treatment choices in a total of 257 patients (age range 8-18 years, 152 girls, 105 boys) with JME diagnosed and treated between 2010 and 2020 were evaluated retrospectively. Seizure remission was defined as complete seizure control for at least 12 months. RESULTS: Across the study period and entire patient group, VPA was most commonly chosen as the initial ASM (50.9%), followed by LEV (44.4%), and lamotrigine (4.7%). VPA was also the most frequent first choice in the subgroup of boys (73.3%), while LEV was the commonest first choice in girls (57.9%). The sex difference regarding the ASM of the first choice was statistically significant (p<0.001). While VPA was the most frequent initial ASM in the first 5 years of the study period (2010-2015,n = 66, 64%), LEV had taken over as the most popular first ASM in the last 5 years (n = 83, 53.9%, p = 0.005). The most frequent reasons for discontinuation were inefficacy for LEV and adverse effects for VPA (p = 0.001). During follow-up, 237 patients (92.2%) were seizure-free for at least 12 months, and 159 (61.9%) were also in electrographic remission. Seizure remission occurred earlier than electroencephalographic remission (p<0.001). CONCLUSION: This study revealed that LEV has become the most frequently chosen initial ASM in the treatment of JME. Although LEV appears to have a better adverse effect profile, VPA seems more likely to be effective in achieving seizure control.

An Investigation of Changing Attitudes and Behaviors and Problematic Internet Use in Children Aged 8 to 17 Years During the COVID-19 Pandemic.

PURPOSE: To examine the effects of the COVID-19 pandemic on the lifestyle, habits, and behavioral differences in children, and their changing internet use habits. METHODS: The research was planned as a cross-sectional study involving 4892 children aged 8 to 17 years attending schools in the city center of Trabzon, Turkey. Children's daily living activities, social habits, mood and temperament changes, and internet use were investigated before and during the pandemic. In terms of problematic internet use, internet addiction rates were evaluated using the validated Turkish-language version of the Parent-Child Internet Addiction Scale (PCIAT-20). RESULTS: The children's mean age was 13 ± 2.45 years, and 17.1% (n = 837) exhibited problematic internet use features on the PCIAT-20. Problematic internet use was higher in boys and in children older than 13 years. The presence of COVID-19 infection among members of the household, quarantine measures, attending private schools, the mother's occupation, the time spent by the mother and father on their mobile phones, and high parental education levels were associated with a high level of internet addiction. Families also described significant changes in their children's temperament and character compared with the pre-pandemic period. CONCLUSION: The prevalence of problematic internet use increased during the COVID-19 pandemic compared with previous studies from Turkey. Children were also more introverted, irritable, and pessimistic during the pandemic.

Turkish version of Brief Ataxia Rating Scale.

AIM: Our aim was to perform the Turkish-language adaptation of a practical ataxia rating scale for children. METHODS: The Brief Ataxia Rating Scale was subjected to cultural adaptation following receipt of the requisite permissions. Thirty-six children aged 4-18 years followed-up with a diagnosis of ataxia were included in the study. Evaluation of each child was recorded on video. The video recordings were scored independently by nine observers (four physiotherapists, one pediatric neurologist, and four pediatricians). Intra-rater reliability was tested by the same video images being scored twice, at 15-day intervals, by a pediatric neurologist. Intraclass correlation coefficients were used for inter-rater and intra-rater reliability. The Scale for the Assessment and Rating of Ataxia was used for concurrent validity. RESULTS: Good to excellent reliability was determined among the nine observers in terms of total scores with the intraclass correlation coefficient among the nine observers (intraclass correlation coefficient = 0.926; 95% CI: 0.885-0.956). Intra-rater reliability analysis results exhibited strong reliability in terms of scores elicited at two-week intervals (intraclass correlation coefficient = 0.967; 95% CI: 0.890-0.987, r = 0.97, p < 0.001). At concurrent validity analysis, a strong relation was determined between total Scale of the Assessment and Rating of Ataxia score and total Brief Ataxia Rating Scale score (r = 0.942, p < 0.001). CONCLUSION: The Turkish-language adaptation of the Brief Ataxia Rating Scale is reliable and valid for application in children.Implications for RehabilitationThis study shows the reliability and validity of the Turkish language adaptation of brief ataxia rating scale in children.The scale being both practical and easily applicable to ataxic children will contribute to broadening its use in the pediatric age group in particular.

Lumbar puncture requirement in acute hemiparesis: diagnosis of tuberculous meningitis after hemiparesis in a child.

BACKGROUND: Infections are an important acquired cause of cerebral arteriopathy. Tuberculous (TB) meningitis leading to infectious cerebral vasculopathy is a rare cause of acute hemiparesis. CASE REPORT: A 14-year-old male patient was examined after acute hemiparesis developing within 1 day. Neurological examination revealed total hemiplegia on the left side. Brain MRI findings showed bilateral focal T2-weighted signal hyperintensity in the subcortical and deep white matter regions. There were also areas of restricted diffusion in the right basal ganglia. Although the father had a history of pulmonary TB, the patient had not been given TB prophylaxis because of PPD negativity. At lumbar puncture, opening cerebrospinal fluid (CSF) pressure was 50 cm/H20, CSF protein 66.9 mg/dL, and glucose 54 mg/dL (concurrent blood glucose 93 mg/dL); 170 polymorphonuclear leukocytes per cubic millimeter were present in CSF. Following tests for TB, treatment was started immediately with four anti-TB drugs. TB PCR of CSF and acid-fast bacteria (AFB) staining in gastric aspirate were positive. At clinical follow-up, the patient was able to walk with support at the end of the first month. CONCLUSION: Various infectious agents have been reported as causes of cerebral vasculopathy. TB, which affects a significant number of patients worldwide, should be kept in mind in terms of cerebral vascular complications. Lumbar puncture is essential in order to diagnose TB meningitis.