Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.

BACKGROUND: ATP1A3 is a gene that encodes the ATPase Na + /K + transporting subunit alpha-3 isoenzyme that is widely expressed in GABAergic neurons. It maintains metabolic balance and neurotransmitter movement. These pathways are essential for the proper functioning of the nervous system. A mutation in the ATP1A3 gene demonstrates remarkable genotype-phenotype heterogeneity. OBJECTIVES: To provide insight into patients with ATP1A3 mutation. MATERIAL AND METHODS: These cases were identified using next generation sequencing. The patients' clinical and genetic data were retrieved. Detailed revision of the literature was conducted to illustrate and compare findings. The clinical, genetical, neuroimaging, and electrophysiological data of all pediatric patients were extracted. RESULTS: The study included 14 females and 12 males in addition to two novel females cases. Their mean current age is 6.3 ± 4.24 years. There were 11.54% preterm pregnancies with 5 cases reporting pregnancy complications. Mean age of seizure onset was 1.07 ± 1.06 years. Seizure semiology included generalized tonic-clonic, staring spells, tonic-clonic, and others. Levetiracetam was the most frequently used Anti-seizure medication. The three most frequently reported classical symptoms included alternating hemiplegia of childhood (50%), cerebellar ataxia (50%), and optic atrophy (23.08%). Non-classical symptoms included dystonia (73.08%), paroxysmal dyskinesias (34.62%), and encephalopathy (26.92%). Developmental delay was reported among 84.62% in cognitive, 92.31% in sensorimotor, 80.77% in speech, and 76.92% in socioemotional. EEG and MRI were non-specific. CONCLUSION: Our study demonstrated high heterogeneity among patients with pathogenic variants in the ATP1A3 gene. Such variation is multifactorial and can be a predisposition of wide genetic and clinical variables. Many patients shared few similarities in their genetic map including repeatedly reported de novo, heterozygous, mutations in the gene. Clinically, higher females prevalence of atypical presentation was noted. These findings are validated with prior evidence and the comprehensive analysis in this study.

Association between sex hormones and migraine in young Saudi females.

OBJECTIVES: To assess the sex hormone levels in young Saudi female migraineurs during a migraine attack and during pain-free periods and compare them with control subjects. METHODS: A case-control study involving 14 Saudi female migraineurs and 21 control subjects was conducted between December 2019 and March 2020. Demographic and disease history data were collected through participant interviews. Blood samples were drawn during the migraine attack and pain-free periods. RESULTS: Follicular (30.00±19.60; p<0.001) and luteal (39.79±11.45; p=0.037) estrogen levels were significantly higher in patients with non-menstrual related migraine (NMM), while luteal testosterone levels (1.10±0.31; p=0.023) were significantly higher in patients with menstrually related migraine (MM). Body mass index (BMI) was higher in patients with NMM (25.77±6.53; p=0.013), and it was found to be associated with follicular estrogen (p=0.016), progesterone (p=0.018), and pain intensity (p=0.042). Luteal estrogen level was significantly lower (13.96±7.88; p=0.036) in patients with luteal onset of attack. CONCLUSION: High estrogen levels were found to mediate NMM, their effect being more pronounced with increase in BMI; whereas low luteal estrogen levels mediated MM. Young females with MM might have high luteal testosterone levels, and a compensatory protective role could be surmised accordingly.

Effect of customisation, root canal reshaping and acid etching on push-out bond strength of fiber post in flared, MTA repaired root canal.

BACKGROUND: Clinicians routinely encounter the endodontically treated teeth with wide flared canals and mineral trioxide aggregate (MTA) repair on the canal wall. OBJECTIVE: To assess the effect of customized glass reinforced composite (FRC) post and reshaped root canal along with different acid etching protocol of MTA surface on push-out bond strength (PBS) in flared, MTA repaired root canal. METHODS: Ninety recently extracted single-rooted premolar teeth were sequentially subjected to root canal obturation, post space preparation, flaring, and MTA application. The samples were randomly divided into 3 groups of control (no relining or reshaping), customized FRC post by relining with self-adhesive resin cement and reshaping the canal with flowable composite. Each group was subdivided into 3 subgroups (n= 10) as no surface treatment, 37% H3PO4 and 19% EDTA etching of MTA surface. Teeth samples cemented with FRC post were sectioned into 2 mm and push-out testing. RESULTS: Control group had the lowest PBS at 1.988 N. The PBS values for the groups with customized post relining were 8.489 N, 8.888 N and 7.911 N for control, H3PO4 etch and EDTA etch. The corresponding PBS values for root canal reshaping were 7.323 N, 8.318 N and 7.785 N. CONCLUSIONS: Customized FRC post with 37% H3PO4 etching is advised for the flared and MTA repaired root canals.

Cadaver dissection: A positive experience among Saudi female medical students.

OBJECTIVES: The objectives of this study were to evaluate first-year undergraduate female preclinical medical students' behaviours, experiences, and emotions regarding cadaver dissection. The evaluation was performed during the 2013-2014 academic year, six months after starting the dissection course. METHODS: A 14-statement questionnaire was administered to a group of 200 first-year undergraduate female preclinical medical students at the College of Medicine, King Abdulaziz University (KAU), KSA. For each question, the students responded by selecting either "Yes," "No," or "Undecided." Statistical analysis was performed after collection of the questionnaire responses. RESULTS: The results showed that 90% of the students agreed that cadaver dissection provided the best and shortest way to study anatomy. Also, 89% were excited during their first visit to the dissection room, and 79% were satisfied that dissection of a cadaver was ethically acceptable. The majority of the students (over 90%) declared that dissection of a cadaver was one of the best teaching strategies for facilitating the acquisition of knowledge of human anatomy. CONCLUSIONS: Saudi female first-year undergraduate medical students at KAU showed positive attitudes toward cadaver dissection during their human anatomy course. This study prompts the need for exploration of gender differences in perception regarding cadaver dissection.