A Novel SETBP1 Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder.

Balanced chromosomal abnormalities (BCAs) can disrupt gene function resulting in disease. To date, BCA disrupting the SET binding protein 1 ( SETBP1 ) gene has not been reported. On the other hand, de novo heterozygous variants in the highly conserved 11-bp region in SETBP1 can result in the Schinzel-Giedion syndrome. This condition is characterized by severe intellectual disability, a characteristic face, and multiple-system anomalies. Further other types of mutations involving SETBP1 are associated with a different phenotype, mental retardation, autosomal dominant 29 (MRD29), which has mild dysmorphic features, developmental delay, and behavioral disorders. Here we report a male patient who has moderate intellectual disability, mild behavioral difficulties, and severe expressive speech impairment resulting from a de novo balanced chromosome translocation, t(12;18)(q22;q12.3). By whole genome sequencing, we determined the breakpoints at the nucleotide level. The 18q12.3 breakpoint was located between exons 2 and 3 of SETBP1 . Phenotypic features of our patient are compatible with those with MRD29. This is the first reported BCA disrupting SETBP1 .

A Remote Questionnaire-Based Study to Compare Alcohol Use in 1030 Final-Year High School Students in Split-Dalmatia County, Croatia Before and During the National Lockdown Due to the COVID-19 Pandemic.

BACKGROUND The COVID-19 pandemic affected drinking behaviors among adolescents. This remote questionnaire-based study aimed to compare alcohol use in 1030 final-year high school students in Split-Dalmatia County (SDC), Croatia before and during the national lockdown due to the COVID-19 pandemic. MATERIAL AND METHODS An online self-reported questionnaire survey was conducted among 1030 final-year high school students (57.96% female; mean age 17.71 years, SD=0.66) in SDC. The data were collected from June 6 to July 20, 2020 and from October 12 to December 28, 2020. Differences in drinking habits between groups were detected with the chi-squared (χ²) test and before and during the COVID-19 lockdown using the Z test. RESULTS Before the lockdown, 84.66% of students were consuming alcohol, most frequently with friends (78.64%) and "to feel better" (29.51%), while during the lockdown, 44.76% of them were drinking, most frequently with friends (34.37%) and due to boredom (17.48%). Drinking alone (P=0.005) and with family members (P=0.003) significantly increased during the lockdown. No difference in drinking between girls and boys was found before the lockdown, but boys were drinking more during the lockdown (P<0.001). There was no difference in drinking prevalence in different schools before the lockdown, but during the lockdown, more students from vocational schools were drinking (P<0.001) and with higher frequency (P=0.002). Among 53.98% of students during the lockdown, a reduction in frequency of drinking was found (P<0.001), most significantly on islands (P=0.05). CONCLUSIONS During the lockdown due to the COVID-19 pandemic, alcohol consumption by final-year high school students in SDC significantly decreased, particularly in girls and in gymnasium/private school students.

PHACES Syndrome with Intestinal Hemangiomatosis.

We present a rare case of a neonate with PHACES syndrome (posterior fossa malformations, large facial hemangiomas, cerebral arterial anomalies, cardiovascular anomalies, eye anomalies and sternal clefting or supraumbilical raphe) and diffuse hemangiomatosis of the ileum, presenting with multiple intestinal perforations and peritonitis. The infant was successfully treated with propranolol and methylprednisolone as well as octreotide, tranexamic acid, and supportive therapy for massive intestinal bleeding.

Changing Pattern of Acute Alcohol Intoxications in Children.

BACKGROUND In many countries, the number of children hospitalized for alcohol intoxication is increasing. This study analyzed changes in the number of hospitalizations for alcohol intoxication in children aged 0-18 years at the Department of Pediatrics, University Hospital of Split, from 2008 to 2015. MATERIAL AND METHODS Data were collected retrospectively from hospital medical records. Risk groups were classified according to sex, age, drinking habits, and possible benefits of early psychological or psychiatric interventions. Children were divided into 4 age groups: 0-5 years, 6-9 years, 10-13 years, and 14-18 years. Statistics 12.00 was used for statistical analyses, with P-value <0.05 considered as statistically significant. RESULTS Out of 24 651 hospitalized children, 488 were treated for acute intoxication: 36.40% were girls and 63.60% were boys. Among them, 272 children (55.74%) were acutely intoxicated with alcohol, with the average age of 15.95 years and the average blood alcohol concentration of 2.00%. The proportion of children hospitalized for alcohol intoxication decreased from 1.33% in 2008 to 0.75% in 2015. Alcohol intoxications occurred in most cases outside children's homes (92.42%, P=0.001), and on weekends and holidays (81.62%). Among all intoxicated children, 17 children (6.25%) were positive for drugs. A total of 51.29% of children received psychological support (58.59% of girls and 47.09% of boys). CONCLUSIONS In this study, the number of children hospitalized for alcohol intoxication decreased, possibly as a result of preventive, educational, and psychotherapeutic measures or changing drinking habits. Acute alcohol intoxication was most common in the group of children aged 14 to 18 years, and a significant number of these children were positive for drugs, thus, further preventive interventions should be provided.