Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome?

We report a full-term male infant born to nonconsanguinous parents who had clinical features of Goldenhar syndrome and cri du chat syndrome. At birth, the infant was noted to have dysmorphic features with bilateral preauricular tags, rotated ears, bilateral epicanthic folds, a left epibulbar lipodermoid, and an accessory left nipple. After he was assessed for feeding difficulty and tachypnea, he was found to have esophageal atresia with tracheoesophageal fistula. In addition, he had a high-pitched, cat-like cry, characteristic of cri-du-chat syndrome. He also failed a hearing test. Chromosomal analysis and fluorescence in situ hybridisation studies showed an unbalanced karyotype with a terminal deletion of the segment p14 on the short arm of chromosome 5, which is consistent with the cri-du-chat locus. The association of Goldenhar syndrome and cri-du-chat syndrome in this patient suggests that the chromosome 5p14 locus may harbor a gene implicated with Goldenhar syndrome.     

External fixation of complex open humeral fractures

Seven cases of complex open humeral fractures treated by external fixation are reported. The external fixation allowed the associated injuries to nerves, arteries and soft tissues to be adequately treated. Four cases developed non-union and of these, three cases treated by bone-grafting and plating united, but the one case treated by intramedullary nail without bone-graft did not unite. Frame construction and pin placement are discussed. The recommended plan for treatment of these fractures is initial external fixation until adequate soft tissue healing is achieved and sepsis controlled. Then early bone-grafting and plating is advocated if there is no progressive fracture healing. The problems and advantages encountered in the use of external fixation are also described.     

Identification of a Rough Strain of Escherichia coli O157:H7 That Produces No Detectable O157 Antigen

MA6, an O157:H7-like strain, did not react with most anti-O157 kits examined; however, it had the rfbE gene that is essential for O157 expression and carried O157:H7 virulence factors. Lipopolysaccharide analysis showed that MA6 is a rough strain that does not produce the O157 antigen, but genetically, it belongs in the O157:H7 clonal group.     

Entry of genital Chlamydia trachomatis into polarized human epithelial cells.

To study the initial invasion process(es) of genital chlamydiae, a model system consisting of hormonally maintained primary cultures of human endometrial gland epithelial cells (HEGEC), grown in a polarized orientation on collagen-coated filters, was utilized. After Chlamydia trachomatis inoculation of the apical surface of polarized HEGEC, chlamydiae were readily visualized, by transmission electron microscopy, in coated pits and coated vesicles. This was true for HEGEC maintained in physiologic concentrations of estrogen (proliferative phase) and of estrogen plus progesterone (secretory phase), despite the finding that association of chlamydiae with secretory-phase HEGEC is significantly reduced (P = 0.025; A.S. Maslow, C.H. Davis, J. Choong, and P.B. Wyrick, Am. J. Obstet. Gynecol. 159:1006-1014, 1988). In contrast, chlamydiae were rarely observed in the clathrin-associated structures if the HEGEC were cultured on plastic surfaces. The same pattern of coated pit versus noncoated pit entry was reproducible in HeLa cells. The quantity of coated pits associated with isolated membrane sheets derived from HeLa cells, grown on poly-L-lysine-coated cover slips in medium containing the female hormones, was not significantly different as monitored by radiolabeling studies and by laser scanning microscopy. These data suggest that culture conditions which mimic in vivo cellular organization may enhance entry into coated pits for some obligate intracellular pathogens.     

Associations Between Thyroid Hormone Levels and Urinary Concentrations of Bisphenol A,F, and S in 6-Year-old Children in Korea

ObjectivesBisphenol A (BPA) is used in the electrical, mechanical, medical, and food industries. Previous studies have suggested that BPA is an endocrine disruptor. Regulation of BPA has led to increased use of bisphenol F (BPF) and bisphenol S (BPS). However, few studies have investigated the associations of BPF and BPS with thyroid dysfunction in children. Our study investigated the associations of prenatal BPA and early childhood BPA, BPF, and BPS exposure with thyroid function in 6-year-old children.MethodsPrenatal BPA concentrations were measured during the second trimester of pregnancy in an established prospective birth cohort. We measured urinary BPA, BPF, and BPS concentrations and thyroid hormone levels (thyroid-stimulating hormone, total T₃, and free T₄) in 6-year-old children (n=574). We examined the associations between urinary bisphenol concentrations and percentage change of thyroid hormone concentrations using multivariate linear regression. We also compared thyroid hormone levels by dividing the cohort according to BPA, BPF, and BPS concentrations.ResultsThe associations between prenatal BPA and total T₃ levels were statistically significant in all models, except for girls when using a crude model. The associations between urinary BPA and BPS concentrations and levels of all thyroid hormones were not statistically significant. However, we observed that lower free T₄ levels (−1.94%; 95% confidence interval, −3.82 to −0.03) were associated with higher urinary BPF concentrations in girls only.ConclusionsOur findings identified significant associations between prenatal BPA exposure and total T₃ levels in all children and between BPF exposure and free T₄ levels in girls only.     

CCopeY: A Mixed-Methods Coproduced Study on the Mental Health Status and Coping Strategies of Young People During COVID-19 UK Lockdown

PurposeExploring the impact of the COVID-19 pandemic on young people’s mental health is an increasing priority. Studies to date are largely surveys and lack meaningful involvement from service users in their design, planning, and delivery. The study aimed to examine the mental health status and coping strategies of young people during the first UK COVID-19 lockdown using coproduction methodology.MethodsThe mental health status of young people (aged 16–24) in April 2020 was established utilizing a sequential explanatory coproduced mixed methods design. Factors associated with poor mental health status, including coping strategies, were also examined using an online survey and semi-structured interviews.ResultsSince the lockdown, 30.3% had poor mental health, and 10.8% had self-harmed. Young people identifying as Black/Black-British ethnicity had the highest increased odds of experiencing poor mental health (odds ratio [OR] 3.688, 95% CI .54–25.40). Behavioral disengagement (OR 1.462, 95% CI 1.22–1.76), self-blame (OR 1.307 95% CI 1.10–1.55), and substance use (OR 1.211 95% CI 1.02–1.44) coping strategies, negative affect (OR 1.109, 95% CI 1.07–1.15), sleep problems (OR .915 95% CI .88–.95) and conscientiousness personality trait (OR .819 95% CI .69–.98) were significantly associated with poor mental health. Three qualitative themes were identified: (1) pre-existing/developed helpful coping strategies employed, (2) mental health difficulties worsened, and (3) mental health and nonmental health support needed during and after lockdown.ConclusionPoor mental health is associated with dysfunctional coping strategies. Innovative coping strategies can help other young people cope during and after lockdowns, with digital and school promotion and application.     

Synthesis andin vitro antibacterial activity of quaternary ammonium cephalosporin derivatives bearing oxazolidinone moiety

Several oxazolidinones having amine moiety were prepared to form a quaternary ammonium salt with cephalosporin nucleus, and antibacterial activity of the quaternary ammonium cephalosporin derivatives bearing oxazolidinone moiety were examined particularly with expectation of dual activity. However, the cephalosporin-oxazolidinone compounds revealed rather weaker antibacterial activity in vitro than their parent oxazolidinone and cephalosporin without showing any characteristic activity as expected.     

Synthesis andin vitro antibacterial activity of C-3′ pyridinium cephalosporin derivatives

The quaternary ammonium cephalosporin derivatives were prepared with various pyridines substituted at the 3 or/and 4 position. Their in vitro antibacterial activities were determined and substituent effect on pyridine nucleus was studied. Preparation of substituted pyridines are also described.