A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report.

Pontocerebellar hypoplasia is a heterogeneous group of rare genetic neurodevelopmental disorders marked by early degeneration of the cerebellum and brainstem. Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (MICPCH; MIM#300749) is a disorder caused by pathogenic loss-of-function variants in CASK CASK gene plays a critical role in brain development by controlling neuronal development and synapse formation. This report describes a 6-month-old Korean female infant with global developmental delay, sensorineural hearing loss, axial hypotonia with hypertonia of extremities, progressive microcephaly, and pontocerebellar hypoplasia. On whole exome sequencing, the patient had a novel heterozygous frameshift CASK variant, NM_003688.3:c.535del (NP_003679.2:p. Arg179Valfs*22). This report highlights the importance of considering CASK pathogenic variants in patients with global developmental delay, progressive microcephaly, and pontocerebellar hypoplasia and the genotype-phenotype relationships.

Vitamin D deficiency in children aged 6 to 12 years: single center's experience in Busan.

PURPOSE: This study investigated the prevalence and risk factors associated with vitamin D deficiency in children. METHODS: We analyzed the medical records of 330 patients from the age of 6 to 12, who visited the endocrinology clinic of the Department of Pediatrics at Pusan National University Hospital, from September, 2013 to May, 2014. According to their serum 25-hydroxyvitamin D (25(OH)D) levels, the patients were grouped into either the deficiency group (25(OH)D<20 ng/mL), or the sufficiency group (25(OH)D≥20 ng/mL). The differences between the 2 groups were compared. RESULTS: There were 195 patients (59.1%) who had vitamin D deficiency. Their mean serum 25(OH)D level was 14.86±3.20 ng/mL. The differences in sex, age, and pubertal status between the 2 groups were not statistically significant. Weight standard deviation score (SDS), and body mass index SDS, were significantly higher in the vitamin D deficiency group (P=0.002 for each), compared to the sufficiency group. Compared with Autumn, both Spring (odds ratio [OR], 9.7; 95% confidence interval [CI], 4.3-22.0), and Winter (OR, 5.9; 95% CI, 3.5-10.0), were risk factors for vitamin D deficiency. In multiple logistic regression analysis, only seasonal differences have been confirmed to have an effect on vitamin D deficiency. CONCLUSION: Vitamin D deficiency in children aged 6 to 12 years is very common. Spring and Winter are the most important risk factors for vitamin D deficiency. We suggest that it is necessary to supplement the guideline for the vitamin D intake according to our situation.

Evaluation of drug provocation tests in Korean children: a single center experience.

BACKGROUND: Drug provocation tests (DPTs) are difficult to perform in clinical practice, even though they are the gold standard for the diagnosis of adverse drug reactions (ADRs). OBJECTIVE: The aims of this study were to evaluate the common causative drugs of type B ADRs and to analyze the relationships between host factors and the results of DPTs in Korean children. METHODS: We retrospectively reviewed the medical records of all children younger than 19 years of age who underwent a DPT between November 1994 and November 2014. Open provocation tests were performed with non-steroidal anti-inflammatory drugs (NSAIDs), acetaminophen, aminopenicillins, cephalosporins, non-ß-lactam antibiotics, antiepileptic drugs, or other drugs. RESULTS: Overall, 84 DPTs were performed in 56 patients whose median age was 7.5 years (range, 6 months to 18 years). DPTs were positive in 25 (29.8%) of 84 cases, which translated to 18 (32.1%) positive findings in 56 patients. Drugs that provided positive results included NSAIDs (7 cases, 28.0%), aminopenicillins (5 cases, 20.0%), acetaminophen (4 cases, 16.0%), cephalosporins (3 cases, 12.0%), and non-ß-lactams (2 cases, 8.0%). Anaphylaxis was noted in 5 (20.0%) of 25 cases. There were no serious complications of DPTs in any of the subjects. The median age was 10.5 years for children who had a positive result following the DPT and 5.0 years for those with negative results (P value = 0.019). CONCLUSIONS: DPTs can be performed safely in children with suspected ADRs in order to achieve a correct diagnosis.

Association of carbon monoxide levels with allergic diseases in children.

BACKGROUND: Air pollution is regarded as a potential reason for the development or aggravation of allergic diseases. OBJECTIVE: To investigate the relationship between exposure to outdoor air pollution during the first year of life and the development of allergic diseases, and to determine the association between outdoor air pollution near the residence and recent symptoms of allergic diseases in children. METHODS: A nationwide cross-sectional survey was conducted in 6- to 7-year-old children. Among them, subjects who had been born (n = 1828) or lived (n = 1894) within 2 km of the nearest air quality monitoring sites were selected. The prevalence of allergic diseases was assessed by using questionnaires. Each subject was examined by pediatricians to determine the presence of eczema. Publicly available data were used regarding the daily ambient concentrations of sulfur dioxide, nitrogen dioxide, ozone, carbon monoxide (CO), and particulate matter. RESULTS: For a 100 ppb increase in the mean daily CO level during the first year of life, the adjusted odds ratio for lifetime allergic rhinitis was 1.10 (95% confidence interval, 1.03-1.19). For a 1 ppm increase in the annual average CO level during the past 12 months, the adjusted odds ratio for the presence of atopic dermatitis on the day of the survey was 8.11 (95% confidence interval, 1.06-62.12). However, the other air pollutants showed no statistical significance. CONCLUSIONS: Higher exposure to CO during infancy increased the risk of development of allergic rhinitis. The risk of current atopic dermatitis symptoms increased in children who were exposed to higher CO levels during the past 12 months.

Balloon occlusive diameter of non-circular atrial septal defects in transcatheter closure with amplatzer septal occluder.

BACKGROUND AND OBJECTIVES: The aim of this study was to investigate the balloon occlusive diameter (BOD) of non-circular defects in the transcatheter closure of atrial septal defect (ASD). SUBJECTS AND METHODS: A total of 67 patients who had undergone transcatheter closure of an ASD were reviewed retrospectively. A non-circular defect was defined as the ratio of the short diameter to the long diameter of the defect on the en-face image less than 0.75. The BOD was compared with the long diameter of the defect and then compared between the two groups. RESULTS: There were 22 patients with circular defects and 45 patients with non-circular defects. The difference in BOD measuring from the long diameter of the defect was quite different between the two groups and significantly smaller in non-circular morphology (0.1±4.0 vs. 2.3±2.1, p=0.006). The difference in BOD measurement from the long diameter of ASD showed a positive correlation with the ratio of the short diameter to the long diameter of ASD (b/a) (r(2)=0.102, p=0.008). In the non-circular morphology of ASD, the difference in BOD measured from the long diameter had a significant negative correlation with the long diameter of ASD (r(2)=0.230, p=0.001), whereas in circular ASD, no significant correlation was found between the difference in BOD and the long diameter of ASD (p=0.201). CONCLUSION: The BOD compared with the long diameter measured from three-dimensional transesophageal echocardiography was smaller in non-circular ASD than in circular ASD. This difference was much smaller in non-circular ASD with a large long diameter.

Imitative suicide by burning charcoal in the southeastern region of Korea: the influence of mass media reporting.

We describe seven cases of imitative suicide, unintentionally affected by mass media reporting of an accidental death by burning charcoal. After the first report on accidental death by burning charcoal, three cases occurred in 3 months in 2007, and another four cases in the same season in 2008 in the southeastern region of Korea. The age range of the victims was 24-35 years. Five cases were attempted inside of cars and two cases were attempted indoors. The reporting and portrayal of the unusual accidental deaths, as well as the reporting of the means used in the suicide may have potentially led younger people exposed to such stimuli to unexpectedly facilitate suicidal acts by the method described in the media.

Diameter of vessels across the tonsillar capsule as an anatomical consideration for tonsillectomy.

The authors measured the diameters of vessels around the surgical plane of tonsillectomy to investigate an anatomical basis to reduce hemorrhage. Thirty tonsils removed from 15 adult cadavers with the mean age of 56 years (range 44-71 years) at the time of death were studied. Calibration of the vessels across the tonsillar capsule was performed at the 1-mm intracapsular, capsular, and 1-mm extracapsular plane as artery and vein, respectively. The average diameter of the arteries was 73.0 +/- 33.1 mum at the 1-mm intracapsular plane, 94.7 +/- 33.5 mum at the capsular plane, and 139.5 +/- 51.2 mum at the 1-mm extracapsular plane. For the veins, it was 62.9 +/- 38.7 mum at the 1-mm intracapsular plane, 86.8 +/- 50.4 mum at the capsular plane, and 133.6 +/- 78.6 mum at the 1-mm extracapsular plane. The diameters of the vessels at the 1-mm intracapsular plane were significantly smaller than those at the capsular plane (P < 0.01), and likewise the diameters of the vessels at the capsular plane were significantly smaller than those at the 1-mm extracapsular plane (P < 0.01). The result of this study on the diameter of the vessels across the tonsillar capsule could be considered to be an important factor providing an anatomical rationale for a change in recommendation leading to safer tonsillectomies that minimize vascular injury.

Characterization of Osh3, an oxysterol-binding protein, in filamentous growth of Saccharomyces cerevisiae and Candida albicans.

OSH3 is one of the seven yeast homologues of the oxysterol binding proteins (OSBPs) which have the major binding affinity to the oxysterols and function as regulator of cholesterol biosynthesis in mammals. Mutational analysis of OSH3 showed that OSH3 plays a regulatory role in the yeast-to-hyphal transition through its oxysterol-binding domain in Saccharomyces cerevisiae. The OSH3 gene was also identified in the pathogenic yeast Candida albicans. Deletion of OSH3 caused a defect in the filamentous growth, which is the major cause of the C. albicans pathogencity. The filamentation defect of the mutation in the MAPK-associated transcription factor, namely cph1Delta was suppressed by overexpression of OSH3. These findings suggest the regulatory roles of OSH3 in the yeast filamentous growth and the functional conservations of OSH3 in S. cerevisiae and C. albicans.

Morphometrics of the hyoid bone for human sex determination from digital photographs.

The identification of unknown remains is very important. When unknown remains are found, anthropologists first determine their sex and age. The sex of most skeletons is determined by their shape. In the hyoid bone, the shape is sex related, so it can be used forensically to determine the sex. This study focused on sex-based morphometry of the hyoid bone in Koreans using digital photographs. Hyoid bones from 52 males and 33 females were examined. For each subject, we took 34 measurements from photographs using a computer program, and the data were analyzed statistically using SPSS 11.0. Twenty-one of 34 measurements had significant sex differences (p<0.05). The discriminant functions based on three measurements (X(1)-X(3)) were as follows: The accuracy of discriminant functions is 88.2% in both groups, so these can be used to distinguish males from females in a statistically significant manner.

Allele frequencies and haplotypes of the STR loci of the PowerPlex Y-system in southern populations from Korea.

In this study, 12 Y-specific STR loci--DYS391, DYS389 I, DYS439, DYS389 II, DYS438, DYS437, DYS19, DYS392, DYS393, DYS390, DYS385a/b--were analyzed in 259 unrelated males from the southern populations in Korea using the PowerPlex Y PCR system.