MODY5 and Serous Ovarian Carcinoma in 17q12 Recurrent Deletion Syndrome.

Background/Objective: Maturity-onset diabetes of the young type 5 (MODY5) is caused by a hepatocyte nuclear factor 1ß (HNF1ß) gene mutation on chromosome 17q12. HNF1ß mutations have also been found in ovarian clear cell carcinoma, whereas ovarian non-clear cell carcinoma expresses this mutation rarely. 17q12 recurrent deletion syndrome features include MODY5, urogenital anomalies, and psychiatric and neurodevelopmental disorders. This is a report of a patient with 17q12 recurrent deletion syndrome with MODY5, uterine abnormalities, and low-grade serous ovarian cancer. Case Report: A 25-year-old woman with recently diagnosed stage IIIC low-grade serous ovarian carcinoma was evaluated at the endocrinology clinic for diabetes, which was diagnosed at the age of 12 years. C-peptide level was detectable and T1DM antibodies were negative. The mother had diabetes, partially septated uterus, and solitary kidney. Abdominal computed tomography showed pancreatic atrophy, ascites, omental and peritoneal nodularity, and calcifications. Laparoscopy revealed bicornuate uterus, 2 cervices, and vaginal septum. The patient underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy, lymph node dissection, and omentectomy. Chromosomal microarray analysis revealed a pathogenic ∼1.8 Mb loss of 17q12, denoted arr[hg19]17q12(34477479_36283807)x1. Discussion: 17q12deletion has been described as a susceptibility locus in some ovarian cancers. However, to our knowledge, predisposition to ovarian cancer as a feature of 17q12 recurrent deletion syndrome or MODY5 was not reported previously. Conclusion: The disease association reported suggests that medical providers should periodically evaluate for ovarian cancer, gut, and urogenital abnormalities in individuals with MODY5. Likewise, individuals with diabetes plus urogenital tract abnormalities or 17q12deletion in an ovarian tumor should undergo genetic testing for MODY5.

Barriers and facilitators to diabetes screening and prevention after a pregnancy complicated by gestational diabetes.

OBJECTIVE: Gestational diabetes mellitus (GDM) is increasing in the United States, with higher rates among minoritized racial and ethnic populations and lower income populations. GDM increases risk for type 2 diabetes (T2DM), and postpartum diabetes screening and prevention are imperative. This qualitative study examines barriers and facilitators to postpartum T2DM screening and prevention among non-privately insured individuals with a history of GDM in a state prior to Medicaid expansion. METHODS: Thirty-six non-privately insured women with a history of GDM completed semi-structured interviews. Four focus groups and seven interviews were conducted with 30 nurse practitioners, physicians, physician assistants, nurses and registered dietitians from Federally Qualified Health Centers in St. Louis, MO. Interviews and focus groups were audio-recorded and transcribed. Data were analyzed using an integrative thematic analysis informed by the socio-ecological model. RESULTS: Barriers and facilitators to T2DM screening and prevention occur across multiple environments (society, healthcare system, interpersonal, and individual). Societal barriers include insurance issues, unemployment, and lack of transportation, childcare, safe housing, and healthy food access, while facilitators include government sponsored programs and community organizations. Healthcare system barriers include care fragmentation, scheduling policies and time constraints while facilitators include care coordination, pregnancy support groups, and education materials. Interpersonal barriers include negative care experiences, cultural differences, communication challenges, competing priorities, and lack of a social support network, while facilitators include family and friend support and positive care experiences. Individual barriers include health complications and unhealthy food and exercise patterns, while facilitators include child wellbeing, empowered attitudes and healthy food and exercise patterns. CONCLUSIONS: The socioecological model highlights the societal and systemic determinants that encompass individual and interpersonal factors affecting postpartum T2DM screening and prevention. This framework can inform multi-level interventions to increase postpartum T2DM screening and prevention in this high-risk population, including policy changes to alleviate higher-level barriers.

Understanding Gestational Diabetes, Future Diabetes Risk, and Diabetes Prevention: A Qualitative Study of Patient, Provider, and Staff Perspectives.

Gestational diabetes mellitus (GDM) increases type 2 diabetes risk; however, postpartum diabetes screening rates are low. Using semi-structured interviews and focus groups, this study investigates the understanding of GDM and its relationship to future diabetes risk and diabetes prevention among patients with public or no insurance (n = 36), health care providers (n = 21), and clinic staff (n = 9) from Federally Qualified Health Centers. Five main themes emerged: 1) general understanding of GDM diagnosis with focus on neonatal complications; 2) variable recall of diet, exercise, and weight recommendations; 3) overwhelming medication and self-monitoring routines; 4) short-term focus of type 2 diabetes risk and screening; and 5) limited understanding of all options for diabetes prevention. The results may inform diabetes screening and prevention interventions in primary care settings.

Quality improvement for HIV screening in a primary care resident clinic.

Primary care physicians are responsible for the initiation of the preventive health screening tests and examinations for their patients. Resident physicians may be uncomfortable obtaining a sexual history from their patient. A performance improvement project was carried out in the resident clinic to see if we could improve HIV screening of our patients. With a cohesive effort between the faculty preceptors and residents, we were able to improve screening rates for HIV and improve some aspects, but not all, of sexual history taking for our population of patients. We identified two patients who screened positive for a rate of 1.4%. ABBREVIATIONS: CDC.

Recognizing Wellens' syndrome, a warning sign of critical proximal LAD artery stenosis and impending anterior myocardial infarction.

Wellens' syndrome, also known as LAD coronary T-wave syndrome or the 'widow maker', is a pre-infarction syndrome with non-classical ischemic ECG changes and unremarkable cardiac biomarkers. This syndrome continues to be a 'can't miss' for the clinician as delay in urgent angiography and intervention can result in anterior myocardial infarction, left ventricular dysfunction, arrhythmias, and death. We describe a case followed by a discussion of identification criteria and clinical implications.

Molecular cloning and function of ecdysis-triggering hormones in the silkworm Bombyx mori.

Inka cells of the epitracheal endocrine system produce peptide hormones involved in the regulation of insect ecdysis. In the silkworm Bombyx mori, injection of Inka cell extract into pharate larvae, pupae or adults activates the ecdysis behavioural sequence. In the present study, we report the identification of three peptides in these extracts, pre-ecdysis-triggering hormone (PETH), ecdysis-triggering hormone (ETH) and ETH-associated peptide (ETH-AP), which are encoded by the same cDNA precursor. Strong immunoreactivity associated with each peptide in Inka cells prior to ecdysis disappears during each ecdysis, indicating complete release of these peptides. Injection of either PETH or ETH alone is sufficient to elicit the entire ecdysis behavioural sequence through the direct action on abdominal ganglia; cephalic and thoracic ganglia are not required for the transition from pre-ecdysis to ecdysis behaviour. Our in vitro data provide evidence that these peptides control the entire ecdysis behavioural sequence through activation of specific circuits in the nervous system. Ecdysis of intact larvae is associated with the central release of eclosion hormone (EH) and elevation of cyclic 3',5'-guanosine monophosphate (cGMP) in the ventral nerve cord. However, injection of ETH into isolated abdomens induces cGMP elevation and ecdysis behaviour without a detectable release of EH, suggesting that an additional central factor(s) may be involved in the activation of this process. Our findings provide the first detailed account of the natural and hormonally induced behavioural sequence preceding larval, pupal and adult ecdyses of B. mori and highlight significant differences in the neuro-endocrine activation of pre-ecdysis and ecdysis behaviours compared with the related moth, Manduca sexta.