Partial gonadal dysgenesis associated with a pathogenic variant of PBX1 transcription factor.

A term neonate was admitted to the Neonatal Intensive Care Unit for respiratory distress, hypotonia and atypical genitalia. Significant findings included a small phallic structure, labial folds, no palpable gonads and two perineal openings. Pelvic ultrasound showed uterine didelphys and a gonad in the right inguinal canal. The right gonad was removed during diagnostic laparoscopy with microscopic evaluation showing infantile testicular tissue and fluorescence in-situ hybridisation showed only XY signal suggesting that the removed gonad was a male-developed testis. Infant was 46,XY, SRY probe positive. The parents chose a female sex assignment prior to gonadectomy. The infant had respiratory insufficiency and central hypotonia that persisted on discharge. Whole exome sequencing showed a heterozygous pathogenic variant of the PBX1 gene. This variant encodes the pre-B-cell leukaemia homeobox PBX transcription factor and has been associated with malformations and severe hypoplasia or aplasia of multiple organs including lungs and gonads. Whole exome sequencing was crucial in providing a unifying diagnosis for this patient.

Examining characteristics associated with quitting smoking during pregnancy and relapse postpartum.

INTRODUCTION: Smoking during pregnancy is a significant public health concern that can cause adverse health outcomes for both the mother and fetus. Studies have shown only 40% of women quit smoking during pregnancy, with more than half relapsing within 6months, and up to 90% relapsing within one year. This study investigates differences in demographics and smoking-related symptomatology between pregnant smokers and pregnant quitters, as well as factors associated with postpartum relapse. METHODS: Data on pregnant smokers and pregnant quitters were obtained from two separate parent studies. Data on smoking demographics and smoking-related symptomatology were collected at screening visits. RESULTS: Compared to pregnant smokers, pregnant quitters had more favorable smoking characteristics (e.g., smoked fewer cigarettes per day, reported higher motivation for abstinence and less dependency). They also had more favorable relationship characteristics (e.g., were more likely to be married, less likely to have a significant other who smokes) and had less reproductive liability (e.g., fewer pregnancies, fewer children). In terms of symptomatology, pregnant quitters reported more positive affect, negative affect, physical symptoms and withdrawal but less craving. Predictors of postpartum relapse included increased maternal age, having a significant other who smokes and an increased likelihood of returning to smoking after pregnancy (self-reported prior to delivery). CONCLUSIONS: Several demographics and smoking-related symptomatology were significantly different between pregnant quitters and pregnant smokers. In addition, multiple factors predicting postpartum relapse were identified. This information can inform personalized interventions for high risk pregnant smokers and pregnant quitters at risk for postpartum relapse.

Culturally informed views on cancer screening: a qualitative research study of the differences between older and younger Somali immigrant women.

BACKGROUND: Somali women are infrequently screened for breast or cervical cancer, and there is a paucity of evidence-based interventions to increase cancer screening in this community. In order to create a culturally relevant intervention for Somali women living in Minnesota, we sought to understand what Somali immigrant women know about breast and cervical cancer, what are the attitudes toward screening and what cultural barriers are there to screen as well as cultural factors that would facilitate screening. METHODS: In partnership with a community-based organization, New American Community Services (NACS), focus groups were conducted to explore the issues described above. Two focus groups were held with younger women age 20 to 35 and two were held with women age 36 to 65. RESULTS: Twenty-nine women participated in the four focus groups. The women identified 1) differences in health care seeking behavior in Somalia verses the United States; 2) cultural understanding of cancer and disease; 3) barriers to mammogram or Pap screening; 4) facilitators to seeking preventive cancer screening; and 5) risk factors for developing cancer. CONCLUSIONS: Cultural misperceptions and attitudes need to be addressed in developing culturally-appropriate interventions to improve screening uptake for Somali women. A nuanced response is required to address barriers specific to younger and older groups. Culturally informed beliefs can be integrated into intervention development, preventive care and screening promotion.