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Many primary school children withhold urine and stool whilst at school for various reasons. Limited toilet access and the failure to provide safe, sanitary toilets are putting children at risk for toilet avoidance behavior. We aimed to examine personal hygiene, environmental conditions, the perception of these on children, and their toilet use in primary schools. Children aged 6–12 and their parents were asked to complete a self-report questionnaire regarding toilet behavior and the perception of school toilet standards. The main findings are listed below using the data from the questionnaire. We found that 9% and 63% of the children avoided urination and defecating at school, respectively. Similar results were reported previously. The participants' perceptions regarding the environmental conditions of school toilets and conditions revealed that 34% of the children felt that the toilets were dirty or very dirty. Around one-third of them reported a lack of toilet paper sometimes or most of the time. These unsatisfying hygienic conditions of school toilets can be easily solved. Unfortunately, 46% of the children in our study experienced bullying in school toilets. These worrisome data are seldom reported in other studies. The urination habits of the girls, who mostly preferred to partially squat or stand may lead to dysfunctional voiding and incomplete bladder emptying. Our study was limited by the relatively small population, the subjectiveness of the self-reporting questionnaire, and the voiding and defecation habits of the investigated children during school hours. These hours do not necessarily reflect the children's habits after school hours and during the weekends. Despite these limitations, the discussed issues regarding personal hygiene and the environmental conditions in the sampled primary schools are extremely important. Nearly half of the school children had negative perceptions of school toilets. This should raise awareness and concern for school staff to consider and investigate potential facilities improvement in light of the impact observed here. Implementation of appropriate education and a better environment of toilet facilities and security is important for the children's well-being. Summary table. Summary table Number of children 102 Female 59 Means of personal hygiene teaching Parents 79 Teachers 34 Nurse/school counselor 10 Reasons for avoiding Dirty/very dirty toilets 38 The teacher does not allow to leave the classroom 28 Do not want to waste break time 17 Urination method in girls Whilst sitting 31 "On air" 24 Bullying in school toilets 47 Avoidance behavior Stools 27 Urine 5 Availability of school toilet Yes 74 No 13 Sometimes 15 The general degree of toilet cleanliness Very clean 6 Medium clean 42 Not clean 22 Very dirty 13 [ABSTRACT FROM AUTHOR]

Background Early-onset epileptic encephalopathy (EOEE) is a severe convulsive disorder with a poor developmental prognosis. Although it has been associated with mutations in a number of genes, the fact that there is a large proportion of patients who remain undiagnosed suggests that there are many more still-unknown genetic causes of EOEE. Achieving a genetic diagnosis is important for understanding the biological basis of the disease, with its implications for treatment and family planning. Methods Whole-exome sequencing was performed in a family of Ashkenazi Jewish origin in which a male infant was diagnosed with EOEE. There was no family history of a similar neurologic disease. The patient had extreme hypotonia, neonatal hypothermia, choreiform movements, and vision impairment in addition to the convulsive disorder. Results A de novo heterozygous missense mutation, c.1003A > C, p.Asn335His, was identified in a conserved domain of GABRA2 . GABRA2 encodes the α2 subunit of the GABA A receptor. Conclusions In the context of previous reports of an association of de novo mutations in genes encoding different subunits of the GABA A receptor ( GABRB1 , GABRA1 , GABRG2 , GABRB3 ) with autosomal dominant epileptic disorders, we conclude that a de novo mutation in GABRA2 is likely to cause autosomal dominant EOEE accompanied by a movement disorder and vision impairment. [ABSTRACT FROM AUTHOR]

Interleukin-1 (IL-1) inhibitors are approved for treating familial Mediterranean fever (FMF) that is resistant to colchicine. However, continued concomitant treatment with colchicine is imperative, as it is the only drug proven to prevent secondary amyloidosis. We aimed to compare the adherence to colchicine between patients with colchicine-resistant FMF (crFMF) who were treated with IL-1 inhibitors and patients with colchicine-sensitive FMF (csFMF) who were treated only with colchicine. The databases of Maccabi Health Services, a 2.6-million-member state-mandated health provider in Israel were searched for patients with FMF diagnosis. The medication possession ratio (MPR), calculated from the day of the first colchicine purchase (index date) until the last colchicine purchase was the main outcome measure. Patients with crFMF were matched in a 1:4 ratio to patients with csFMF. The final cohort included 4526 patients. Of them, 108 (2.4%) were with crFMF, and were matched to 432 with csFMF. The total mean MPR in each of the matched groups was similar (78.9 ± 41.4 and 82.5 ± 80.6, respectively, P = 0.5). Statistically significant differences in MPR were not found between the groups according to age or duration of colchicine use. However, adherence to colchicine was insufficient (MPR<80%) among more than 50% of the patients in both groups. In contrast to initial concerns, adherence to colchicine was similar between patients with crFMF and csFMF. However, in both groups, adherence to colchicine was poor. Education of both caregivers and patients is essential to increase adherence. [ABSTRACT FROM AUTHOR]

Background/Purpose We present our long experience with desmoid tumors in children. Methods Data were retrospectively collected from 17 children/adolescents treated for sporadic desmoid tumors at a tertiary pediatric hospital in 1988–2016. There were 10 girls and 7 boys aged 1–17 years. Tumor sites included head and neck, trunk, extremity, and groin. Eight patients underwent radical resection, with complete remission in 7 and local relapse in one which was treated with chemotherapy. Four patients underwent incomplete surgical resection, three with adjuvant chemotherapy. Five patients underwent biopsy only and chemotherapy. Two of the 9 chemotherapy-treated patients also had intraarterial chemoembolization. Chemotherapy usually consisted of vincristine and actinomycin-D with or without cyclophosphamide or low-dose vinblastine and methotrexate. Two patients also received tamoxifen. Results After a median follow-up of 3.3 years, 10 patients were alive in complete remission, 5 had stable disease, and 2 had reduced tumor size. Five-year overall survival was 100%, and event-free survival, 87.5%. Ten were screened for CTNNB1 mutations. CTNNB1 gene sequencing yielded mutations in 5/10 samples tested: 3 T41A, 2 S45F. There was no association of CTNNB1 mutation with clinical outcome or prognosis. Conclusion Pediatric desmoid tumors are rare, with variable biologic behavior and morbidity. Treatment requires a multidisciplinary approach. Level of evidence LEVEL IV, treatment study. [ABSTRACT FROM AUTHOR]

• p.(Val1262Phe) is a unique pathogenic variant in ATP7B in Bukharan Jewish descent. • In our cohort, patients had a severe phenotype of WD with early onset. • A high carrier rate was discovered in Bukharan Jewish controls. • Early diagnosis is the most important factor influencing long-term prognosis in WD. • We suggest including this variant in neonatal preclinical screening programs. Wilson disease is caused by pathogenic variants in the ATP7B gene which encodes a copper-transporting ATPase. Describe a common founder pathogenic variant among Bukharan Jews and to assess its prevalence, clinical features, and outcome. The cohort consisted of patients of Bukharan Jewish descent diagnosed with Wilson disease at a tertiary pediatric medical center in 2013–2018. Clinical and genetic data were collected and analyzed. Six patients from 4 unrelated families who were homozygous for the c.3784G > T p.(Val1262Phe) pathogenic variant in ATP7B were identified. Five presented with elevated aminotransferase levels, and one, with acute liver failure. Mean age at diagnosis was 8.7 years (5–12.5). Serum ceruloplasmin level was extremely low in all patients (1.9–7 mg/dL; mean 3.2(. The variant was identified in a heterozygous state in 5/153 Bukharan Jews; 2/33 from our local exome database and 3/120 healthy unrelated Bukharan Jews in another cohort, for an estimated carrier frequency of ∼1:30. We report a common founder pathogenic variant in the ATP7B gene among Bukharan Jews associated with severe early-onset Wilson disease. Given the clinical severity, high frequency of the variant, and being a treatable disease, its inclusion in pre-symptomatic screening in the Bukharan Jewish community should be considered. Furthermore, WD should be part of future genetic newborn screening programs in Israel and worldwide, to enable early treatment and prevention of future life-threatening complications. [ABSTRACT FROM AUTHOR]