A new syndrome with cardiac malformation,cleft lip-palate,microcephaly and digital anomalies?

A family with cardiac malformation, cleft lip-palate, short stature, microcephaly, distally placed thumbs, short 2nd and 5th fingers, long and broad 1st toes, broad distance between 1st and 2nd toes and mediodorsal curvature of the 4th toes with syndactyly of the 2nd and 3rd toes has been described as having a new syndrome. While some members of the family had full signs of the syndrome, others had similar but fewer and less severe anomalies of the same structures. The presence of common findings in three generations, its variable expressivity and pleiotropism, and the non-consanguineous history in the parents suggest that the inheritance is autosomal dominant.     

Ocular injuries,attention deficit and hyperactivity disorder,and maternal anxiety/depression levels:Is there a link?

Purpose:Given the increased risk of accidents in patients with attention deficit and hyperactivity dis-order(ADHD)or maternal anxiety/depression,we aimed to investigate the frequency of the two diseases in children with penetrating eye injury(PEI).Methods:Altogether 79 children,39 with PEIs and 40 healthy individuals(control group),aged 5-15 years,underwent a complete ophthalmologic examination.Afterwards,schedule for affective disorders and schizophrenia for school-aged children was conducted to assess the psychiatric diagnosis of all children.Turgay diagnostic and statistical manual of mental disorders(DSM-Ⅳ)-based child and adolescent behavior disorders screening and rating scale(T-DSM-Ⅳ-S)was flled by parents to evaluate the severity of ADHD symptoms.The depression and anxiety levels of mothers of each group were evaluated by two self-report measures:the Beck depression scale and the state-trait anxiety inventory(STAI),respectively.Data were analyzed by IBM SPSS version 22.0.The Chi-square and Fisher's exact test were used to determine whether there is a significant difference between qualitative variables while independent sample t and Mann-Whitney U tests to compare quantitative variables.Results:The only diagnostic difference was a significantly higher frequency of ADHD among patients with PEIs(48.7%in PEI vs.17.5%in control group,χ^2=7.359,p=0.007).The total scores of the T-DSM-Ⅳ-S(attention subscale U=418.000,p=0.006;hyperactivity subscale U=472.000,p=0.022)and maternal state-trait anxiety inventory(maternal STAI-state U=243.00,p=0.003;maternal STAl-trait U=298.000,p=0.021)were significantly higher in the PEI group than in control group.In logistic regression,children with PEI had a tendency to have a 3.5-fold increased risk for ADHD(OR=3.538,CI=0.960-13.039,p=0.058).Conclusion:ADHD was detected almost 1 in 2 children with PEls.Besides,the maternal anxiety level was significantly higher in the PEI group than in the control group.This association should be further explored via a future prospective longitudinal study.Since a proper treatment of ADHD in children and anxiety treatment in mothers may prevent vision loss following PEIs in children.     

Aortic cusp ablation for premature ventricular contractions and ventricular tachycardia in children: a 5-year single-center experience

Journal of Interventional Cardiac Electrophysiology - Aortic cusps might be the source of supraventricular or ventricular arrhythmias. For many years, aortic cusp ablation has been widely used to...     

Letrozole-induced polycystic ovaries in the rat: a new model for cystic ovarian disease

BACKGROUND: Our objective was to develop a new animal model for the study of polycystic ovaries by using the non-steroidal aromatase inhibitor, letrozole. METHODS: Thirty four rats were divided into four groups, including a control group of 10 rats that received vehicle only (1% aqueous solution of carboxmethlycellulose [CMC]) once daily orally (p.o.) and three treatment groups of eight rats each that were administered letrozole at concentrations of 0.1 or 0.5 or 1 mg/kg p.o. dissolved in 1% CMC (2 mL/kg) once daily. The treatment period was 21 days. During this period, vaginal smears were collected daily for estrus cycle determination. On the day subsequent to last letrozole dose administration, rats were killed; uteri and ovaries were then excised and weighed. Serum hormone levels and histologic changes in ovaries were examined. RESULTS: When compared to control group, ovaries from study groups showed high incidence of subcapsular ovarian cyst and capsular thickening together with incomplete luteinization and decreased number of corpora lutea. Letrozole treatment brought about dose-dependent suppression of uterine weight despite having no significant effect on ovarian weight. Although serum estradiol and progesterone levels were reduced in a dose-dependent manner, testosterone levels were elevated as were levels of luteinizing hormone (LH). Serum follicle-stimulating hormone (FSH) levels were markedly increased at higher doses of letrozole (0.5 and 1.0 mg/kg), contrary to low dose of letrozole (0.1 mg/kg) at which slight decrease was observed. CONCLUSIONS: Despite the fact that this is not a fully convincing model for the study of polycystic ovaries or of polycystic ovary syndrome (PCOS) as a whole, this animal model in several ways is similar to the human polycystic ovary syndrome.