Persistence of müllerian duct structures in a genetic male with distal monosomy 10q.

Persistent müllerian duct syndrome (PMD) with antimüllerian hormone (AMH) deficiency is usually associated with mutations or deletions of the AMH gene, although many cases have no identified gene association. We report on a genetic male with PMD and AMH deficiency associated with distal monosomy 10q. A term 3,230 g infant was born to a healthy 27-year-old. Fetal ultrasound had shown possible genital ambiguity. Postnatal exam showed a 0.5 cm phallus with basal meatus, normal scrotum with no palpable gonads, no vaginal orifice, and a rectal fistula with an imperforate anus. Voiding cystourethrogram with ultrasound, cystoscopy, and laparoscopy showed normal bladder, urethral orifice, distal vagina, cervix, and bilateral abdominal testis. At 24 hours of life, testosterone was within normal range with low AMH level. Chromosome microarray analysis showed 46, XY, del10(10q25.3q26.13) involving an 8.2 MB interstitial deletion. Whole exome sequencing identified a NOTCH2 variant (1p11.2). AMH sequencing revealed no abnormalities. Following multidisciplinary team and parent discussion, male gender was assigned. Testosterone treatment resulted in penile length of 1.5 cm. Bilateral orchiopexy and posterior sagittal anorectoplasty were performed at 11 months of age; rudimentary müllerian structures were identified. This observation suggests an association of 10qter elements with male differentiation including AMH expression and is similar to a patient with 46, XY, del(10q26.1) in which AMH levels were not reported. Regional candidate genes include FGFR2 (10q26.13). The possible contribution of a NOTCH2 variant cannot be excluded.

Parathyroid hormone levels in neonates with suspected osteopenia.

AIM: The goal of this study is to describe secondary hyperparathyroidism in extremely low birthweight (ELBW) neonates and their response to enteral calcium carbonate (CaCO(3)) supplementation. METHODS: A retrospective case series was conducted on extremely low birth infants, <1000 g birthweight, who survived hospitalisation, had no major congenital anomalies and had all their care in our institution RESULTS: During this 6-year period, 231 ELBW infants survived hospitalisation at our institution. Of the 231 patients, parathyroid hormone (PTH) levels were performed in 66 of these patients (29%) and were elevated in 54 patients (82% of those tested). The timing of this testing was sporadic and was often performed after recognising osteopenia on radiography. Of the 54 patients with high PTH levels, 44 (81%) were treated with CaCO(3) and PTH levels were monitored while on therapy. The average duration of therapy was 41 ± 28 days, with 64% of PTH levels returning to normal before discharge. CONCLUSIONS: PTH is a major hormone responsible for bone resorption, and serum levels may be a useful marker in identifying ELBW neonates at risk for metabolic bone disease. ELBW neonates with secondary hyperparathyroidism may benefit from enteral supplementation with CaCO(3). Further studies are needed to better evaluate the incidence, timing and potential treatment of hyperparathyroidism in ELBW infants.

The physician healer track: educating the hearts and the minds of future physicians.

Calls to reform medical education recommend explicit training in professional identity formation to promote the development of humanistic, compassionate physicians. The authors report their experience offering The Physician Healer Track, a 500-contact-hour curricula integrated over 4 years, focusing on self-awareness, reflection, being-with-suffering, communication and professional identity development. The voluntary scholarly-concentration program comprises 4 years of monthly dinner meetings with faculty mentors, a two-month preceptorship in the first year, a one-month immersion course in MS4 and one elective. Training in mindfulness, cognitive behavioral therapy, nonviolent communication, motivational interviewing, spirituality in healthcare, wellness, equanimity, and 'being with suffering' is reinforced across all 4 years. Community building and reflection are integral to the training both in the monthly sessions and the immersion courses. Enrollment has grown from 26 students in the first year (11% of class) to a total of 258 students across our first 6 years (average of 20-26% of each class). Graduates in our first two cohorts of PHT have exceeded the numbers in the eight other scholarly concentrations offered at UTMB. Among students participating in the summer preceptorship, there has been less than 1% attrition. In serial assessments, students report continued growth in personal development, professional development, and the ability to empathize. Offering PHT has resulted in the growth of training for our medical residents, faculty, physical therapy students and the creation of a student healer association. Despite the demands on student's time, they are voluntarily participating in a challenging program of integrated training with the intention of keeping them connected to their humanity during the rigors of medical school training.

Inhaled nitric oxide for oligohydramnios-induced pulmonary hypoplasia: a report of two cases and review of the literature.

We describe the clinical courses of two premature infants, a male born at 29(4/7) weeks' gestational age after an 8-week period of rupture of membranes (ROM) and severe oligohydramnios, and a female infant born at 31 weeks' gestational age after an 18-week period of ROM and severe oligohydramnios. Within hours after birth, despite intubation and aggressive ventilation, both infants developed fulminant hypoxic respiratory failure. Their clinical courses were consistent with pulmonary hypertension and both infants were transferred for trials of inhaled nitric oxide (iNO). Both infants had dramatic responses to iNO, suggesting that the pulmonary disease seen after prolonged oligohydramnios may have a component of nitric oxide-sensitive pulmonary hypertension. The goals of this article are to (1) review oligohydramnios-induced pulmonary hypoplasia, (2) discuss patients at highest mortality risk, and (3) describe the effects of iNO on pulmonary hypertension in infants with hypoxemia following prolonged ROM and severe oligohydramnios.

Impact of providing vitamin A to the routine pulmonary care of extremely low birth weight infants.

OBJECTIVE: The objective of this study was to determine if the continued use of vitamin A in a nursery utilizing early surfactant and nasal continuous positive airway pressure (CPAP) was warranted. STUDY DESIGN: A retrospective, cohort study of appropriately sized, preterm neonates weighing ≤1000 g at birth was conducted. Two time periods were compared: Pre-Vitamin A was composed of extremely low birth weight who were routinely cared for with early nasal CPAP (n = 76); and Post-Vitamin A (n = 102) consisted of ELBWs who were cared for similar to Pre-Vitamin A, but with the addition of vitamin A. Outcome variables included the incidence of BPD and other pulmonary and major neonatal morbidities. RESULTS: Between Pre-Vitamin A and Post-Vitamin A the incidence of moderate to severe BPD decreased by 11%, from 33% to 22% (p = 0.2). No difference was found in the number of ventilator days or in the incidence of any other neonatal morbidity or mortality, including intraventricular hemorrhage, necrotizing enterocolitis, or patent ductus arteriosus requiring surgical ligation. CONCLUSION: In a neonatal unit utilizing early surfactant followed by nasal CPAP at delivery, supplementing extremely premature neonates with vitamin A demonstrated a trend towards a decrease in the incidence of moderate to severe BPD; however, this change requires a larger sample to verify in the future.

Neonatal parotid gland enlargement: Is it suppurative parotitis? A case report.

BACKGROUND: Acute suppurative parotitis (ASP) is a rare finding in the neonate. It is commonly caused by S. aureus but other bacterial isolates may be emerging. Effective treatment includes prompt diagnosis, parenteral antibiotics and supportive measures such as rehydration and bimanual gland massage. CASE REPORT: This case report describes an extremely premature female infant with a complicated post-natal course who presented with unilateral swelling of the parotid region. Diagnostic workup revealed purulent exudate from Stensen's duct and ultrasound findings consistent with parotitis. Culture of the exudate showed growth of Staphylococcus aureus and Enterococcus species. The patient responded well to a ten-day antibiotic course and supportive measures. CONCLUSIONS: ASP, though rare, should be considered in the differential diagnosis of a neonatal parotid swelling since early and prompt diagnosis prevents morbidity and complications.

Sustained impact of MBSR on stress, well-being, and daily spiritual experiences for 1 year in academic health care employees.

OBJECTIVES: The objectives of the study were (1) to evaluate self-reported stress levels and daily spiritual experiences in academic health care employees before, immediately after, and 1 year after enrolling in a mindfulness-based stress reduction (MBSR) course; and (2) to evaluate the correlation between a potential measure of pulse rate variability and self-reported stress levels. SUBJECTS: Fifty-nine (59) participants in the MBSR course offered to employees at the University of Texas Medical Branch in Galveston (UTMB) comprised the intervention group, and 94 health care providers in the neonatal nurseries comprised the control group. INTERVENTION: MBSR is an 8-week course that introduces mindfulness meditation practices. No intervention was offered to the control group. All participants were employees (or relatives of employees) at UTMB. DESIGN: All MBSR participants completed Cohen's Perceived Stress Scale, the SCL-90, the SF-36 Measure of Health and Well-Being, the Daily Spiritual Experiences Scale, and a 5-minute measure of pulse rate coherence. This testing was done before and after the MBSR course and 1 year later. Ninety-four (94) neonatal health care providers completed the same series of questionnaires and pulse rate variability (PRV) measures, with 49 of the 94 completing the questionnaires 2 months and 1 year later. RESULTS: MBSR participants improved on all measures except the physical component score of the SF-36 upon completion of the MBSR course, and these results were maintained at the 1-year follow-up. The control group did not significantly change on any of the measures. PRV as measured by the Heart Math system did not correlate with any of the self-report questionnaires. CONCLUSIONS: MBSR effectively reduces self-report measures of stress and increases daily spiritual experiences in employees in an academic health care setting, and these effects are stable for at least 1 year. Using a simple measure of PRV was not a clinically reliable biologic measure of stress.

Decreased incidence of bronchopulmonary dysplasia after early management changes, including surfactant and nasal continuous positive airway pressure treatment at delivery, lowered oxygen saturation goals, and early amino acid administration: a historical cohort study.

OBJECTIVE: The goal was to investigate the clinical impact of 3 early management practice changes for infants of < or = 1000 g. METHODS: We performed an historical cohort study of appropriately sized, preterm infants without congenital anomalies who were born between January 2001 and June 2002 (pre-early management practice change group; n = 87) and between July 2004 and December 2005 (post-early management practice change group; n = 76). RESULTS: Only 1 (1%) of 87 infants in the pre-early management practice change group received continuous positive airway pressure treatment in the first 24 hours of life, compared with 61 (80%) of 76 infants in the post-early management practice change group. The proportions of infants who required any synchronized intermittent mandatory ventilation during their hospital stays were 98.8% and 59.5%, respectively. The mean durations of synchronized intermittent mandatory ventilation were 35 days and 15 days, respectively. The combined incidence rates of moderate and severe bronchopulmonary dysplasia at corrected gestational age of 36 weeks were 43% and 24%, respectively. The use of vasopressor support for hypotension in the first 24 hours of life decreased from 39.1% (before early management practice changes) to 19.7% (after practice changes), the cumulative days of oxygen therapy decreased from 77 +/- 52 days to 56 +/- 47 days, and the proportions of infants discharged with home oxygen therapy decreased from 25.7% to 10.1%; the incidence of patent ductus arteriosus requiring surgical ligation increased from 1% to 10%. There were no differences in rates of death, intraventricular hemorrhage, periventricular leukomalacia, pneumothorax, necrotizing enterocolitis, or retinopathy of prematurity. CONCLUSIONS: Successful early management of extremely preterm infants with surfactant treatment followed by continuous positive airway pressure treatment at delivery, lowered oxygen saturation goals, and early amino acid supplementation is possible and is associated with reductions in the incidence and severity of bronchopulmonary dysplasia.

Increased susceptibility of purinergic receptor-deficient mice to lung infection with Pseudomonas aeruginosa.

Purinergic receptors are expressed throughout the respiratory system in diverse cell types. The efficiency of mucus clearance in the airways, the cascade leading to tissue injury, and inflammation are modulated by autocrine/paracrine release of nucleotides and signaling by purinergic receptors. We assessed the role of purinergic receptors in innate host defense of the lung in vivo by infecting mice deficient in P2Y1, P2Y2, or both receptors with intratracheal instillation of Pseudomonas aeruginosa. After P. aeruginosa challenge, all double knockout (P2Y1/P2Y2-/-) mice succumbed within 30 h of challenge, whereas 85% of the wild-type mice survived. Thirty-three percent of wild-type mice survived beyond 96 h. Single knockout mice, P2Y1-/-, or P2Y2-/-, exhibited intermediate survivals. Twenty-four hours following intratracheal instillation of a sublethal dose of P. aeruginosa, the level of total protein in bronchoalveolar lavage fluid was 1.8-fold higher in double knockout than in wild-type mice (P < 0.04). Total cell count in bronchoalveolar lavage fluids at 4 h and levels of IL-6 and macrophage inflammatory protein-2 in lung homogenates at 24 h postchallenge were significantly reduced in P2Y1/P2Y2-/- mice relative to wild-type mice. These findings suggest that purinergic receptors exert a protective role against infection of the lungs by P. aeruginosa by decreasing protein leak and enhancing proinflammatory cytokine response.