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Objective: To describe the long-term metabolic outcome of children with congenital hyperinsulinism after near-total or partial elective pancreatectomy.Research Design and Methods: Patients (n = 105: 58 diffuse and 47 focal congenital hyperinsulinism) received operations between 1984 and 2006. Follow-up consisted of periodic measurements of pre- and postprandial plasma glucose over 24 h, OGTT, and IVGTT. Cumulative incidence of hypo- or hyperglycemia/insulin treatment was estimated by Kaplan-Meier analysis.Results: After near-total pancreatectomy, 59% of children with diffuse congenital hyperinsulinism still presented mild or asymptomatic hypoglycemia that responded to medical treatments and disappeared within 5 years. One-third of the patients had both preprandial hypoglycemia and postprandial hyperglycemia. Hyperglycemia was found in 53% of the patients immediately after surgery; its incidence increased regularly to 100% at 13 years. The cumulative incidence of insulin-treated patients was 42% at 8 years and reached 91% at 14 years, but the progression to insulin dependence was very variable among the patients. Plasma insulin responses to IVGTT and OGTT correlated well with glycemic alterations. In focal congenital hyperinsulinism, hypoglycemia or hyperglycemia were rare, mild, and transient.Conclusions: Patients with focal congenital hyperinsulinism are cured of hypoglycemia after limited surgery, while the outcome of diffuse congenital hyperinsulinism is very variable after near-total pancreatectomy. The incidence of insulin-dependent diabetes is very high in early adolescence. [ABSTRACT FROM AUTHOR]

Background: Feeding skill acquisition is commonly a limiting factor determining when an infant born prematurely can be discharged., Purpose: This study aimed to determine if the addition of a novel feeding progression algorithm (combination of objective data from a suck measurement device and slow flow/low variability nipples) to current neonatal intensive care unit (NICU) standards could decrease feeding-related length of stay (primary outcome). We hypothesized that by timing the initiation of oral feedings to coincide with adequate sensory-motor skill development, feeding-related length of stay may be decreased., Methods: This was a prospective intervention study, with a historical control cohort, of infants born less than 30 weeks' gestational age without comorbidities affecting feeding skill acquisition at a Regional Level III-S NICU at a women and infant's hospital in Louisiana. A novel feeding progression algorithm utilized objective assessment of sucking to determine progression in nipple flow rates with slow flow/low variability nipples (flow rates from 0 to 9 mL/min) for infants receiving intervention (n = 18). Thirty-six controls who did not receive the feeding progression algorithm were identified via electronic medical record retrospective chart review., Results: Eighteen completed the study. Compared to the control group, infants receiving feeding interventions had delayed sequencing initiation, extended time between initially off positive pressure ventilation and initiation of sequencing, and decreased feeding-related length of stay, with similar total length of stay., Implications for Practice and Research: This study adds to existing research supporting the effectiveness of novel feeding progression algorithms and interventions to support the health and outcomes of infants born prematurely. Future research should focus on implementation studies for feeding progression algorithm integration into standard NICU care., (Copyright © 2024 by The National Association of Neonatal Nurses.)

Purpose: Oral endocrine therapy (OET) is recommended in prevention and treatment of hormone receptor-positive breast cancer (HR+ BC). Despite the reduced incidence, recurrence, and mortality, OET adherence is poor in this patient population. The aim of this study was to review the latest literature to identify effective interventions to improve medication adherence in patients taking OET for prevention or treatment of HR+ BC., Methods: The Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) framework was used to perform this review. We utilized PubMed, SCOPUS, EMBASE, Cochrane, and Web of Science to acquire articles using search terms including breast cancer, adherence, persistence, and acceptability. Inclusion criteria included publication in peer-reviewed journal, primary data source, longitudinal, patients on OET such as aromatase inhibitors (AIs) or selective estrogen receptor modulators (SERMs), measuring adherence, persistence, or acceptability., Results: Out of 895 articles identified, 10 articles were included. Majority of patients had early-stage HR+ BC. Two out of two studies incorporating technological intervention, two out of three studies with text communication-based intervention, and three out of five studies with verbal communication-based intervention reported significant improvement in OET adherence and/or persistence., Conclusions: While the interventions tested so far have shown to improve OET adherence in HR+ BC patients in some studies, there is a need to design combination interventions addressing multiple barriers in this population., Implications for Cancer Survivors: This study showcases effectiveness of novel interventions to improve OET adherence and the need to further develop patient-centered strategies to benefit all patients with HR+ BC., (© 2024. The Author(s).)

Background: It is critical to understand the wide-ranging clinical and non-clinical effects of genome sequencing (GS) for parents in the NICU context. We assessed parents' experiences with GS as a first-line diagnostic tool for infants with suspected genetic conditions in the NICU., Methods: Parents of newborns (N = 62) suspected of having a genetic condition were recruited across five hospitals in the southeast United States as part of the SouthSeq study. Semi-structured interviews (N = 78) were conducted after parents received their child's sequencing result (positive, negative, or variants of unknown significance). Thematic analysis was performed on all interviews., Results: Key themes included that (1) GS in infancy is important for reproductive decision making, preparing for the child's future care, ending the diagnostic odyssey, and sharing results with care providers; (2) the timing of disclosure was acceptable for most parents, although many reported the NICU environment was overwhelming; and (3) parents deny that receiving GS results during infancy exacerbated parent-infant bonding, and reported variable impact on their feelings of guilt., Conclusion: Parents reported that GS during the neonatal period was useful because it provided a "backbone" for their child's care. Parents did not consistently endorse negative impacts like interference with parent-infant bonding.

Purpose: Reinforcing safe infant sleep conditions in the hospital setting supports continuation of safe sleep practices after hospital discharge and should be considered the first line of defense for reducing risk for sudden unexpected infant death (SUID) and sudden infant death syndrome (SIDS) at home. The purpose of this study is to determine knowledge of perinatal nurses, nursing assistants, physicians, and ancillary personnel about safe sleep recommendations and implementation of safe sleep practices on the mother-baby unit., Study Design and Methods: Nurses and other members of the perinatal health care team in a level III maternity service were invited to participate in a survey about safe sleep knowledge and practices. An audit for safe sleep adherence was conducted on the mother-baby unit for 120 mother-baby couplets over 1 year as a process improvement project., Results: N = 144 surveys were completed; most participants (86%) were nurses. They had high levels of knowledge about safe sleep recommendations and 74% reported making at least one safe sleep adjustment during one shift per week. The most common modifications at least once per week were removing baby from a sleeping caregiver (30%) and removing items from baby's bassinet (26%). Safe sleep audit findings revealed 32 out of 120 couplets were not fully following safe sleep recommendations, with most common unsafe sleep practice metrics being items in the baby's bassinet (18%) and bassinets propped up (8%)., Clinical Implications: During the hospitalization for childbirth, new parents can learn about safe sleep practices from the perinatal health care team. Sharing information and role modeling safe sleep practices can promote continuation of safe sleep practices for the newborn at home after hospital discharge., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

Purpose: SouthSeq is a translational research study that undertook genome sequencing (GS) for infants with symptoms suggestive of a genetic disorder. Recruitment targeted racial/ethnic minorities and rural, medically underserved areas in the Southeastern United States, which are historically underrepresented in genomic medicine research., Methods: GS and analysis were performed for 367 infants to detect disease-causal variation concurrent with standard of care evaluation and testing., Results: Definitive diagnostic (DD) or likely diagnostic (LD) genetic findings were identified in 30% of infants, and 14% of infants harbored an uncertain result. Only 43% of DD/LD findings were identified via concurrent clinical genetic testing, suggesting that GS testing is better for obtaining early genetic diagnosis. We also identified phenotypes that correlate with the likelihood of receiving a DD/LD finding, such as craniofacial, ophthalmologic, auditory, skin, and hair abnormalities. We did not observe any differences in diagnostic rates between racial/ethnic groups., Conclusion: We describe one of the largest-to-date GS cohorts of ill infants, enriched for African American and rural patients. Our results show the utility of GS because it provides early-in-life detection of clinically relevant genetic variations not detected by current clinical genetic testing, particularly for infants exhibiting certain phenotypic features., Competing Interests: Conflict of Interest All authors declare no competing financial interests in relation to the work described., (Copyright © 2021 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)

Background: Early postnatal administration of gonadotropins to infants with congenital hypogonadotropic hypogonadism (CHH) can mimic minipuberty, thereby increasing penile growth. We assessed the effects of gonadotropin infusion on stretched penile length (SPL) and hormone levels in infants with congenital micropenis., Methods: Single-center study including 6 males with micropenis in case of isolated CHH (n = 4), panhypopituitarism (n = 1), and partial androgen insensitivity syndrome (PAIS; n = 1). Patients were evaluated at baseline, monthly and at the end of the study through a clinical examination (SPL, testicular position and size), serum hormone assays (testosterone, luteinizing hormone, follicle-stimulating hormone, inhibin B, anti-Müllerian hormone [AMH]), and ultrasound of penis/testes., Results: In CHH, significant increases occurred in serum testosterone (from undetectable level to 3.5 ± 4.06 ng/mL [12.15 ± 14.09 nmol/L]), SPL (from 13.8 ± 4.5 to 42.6 ± 5 mm; p < 0.0001), inhibin B (from 94.8 ± 74.9 to 469.4 ± 282.5 pg/mL, p = 0.04), and AMH (from 49.6 ± 30.6 to 142 ± 76.5 ng/mL, p = 0.03). Micropenis was corrected in all patients, except one. On treatment, in the patient with PAIS, SPL was increased from 13 to 38 mm., Conclusions: Early gonadotropin infusion is a safe, well-tolerated and effective treatment. The effect in PAIS has not been reported previously. Long-term follow-up is needed to assess the impact, if any, on future fertility and reproduction.
., (© 2017 S. Karger AG, Basel.)

Background: Polycystic ovary syndrome (PCOS) is more frequently observed in type 1 diabetes mellitus (T1DM) adult women than in nondiabetic women. No such prevalence has yet been studied in adolescent girls with T1DM., Aim: The aim of this study was to evaluate the prevalence of PCOS in adolescent girls with T1DM and to determine the clinical and hormonal features associated with the disorder., Methods: A cross-sectional study of 53 adolescent girls (gynecological age >2 years) referred for routine evaluation for T1DM was conducted. We diagnosed PCOS using the National Institutes of Health (NIH) and Rotterdam criteria., Results: 26.4 and 47.9% of adolescents had PCOS according to NIH (NIH-PCOS) and Rotterdam (Rotterdam-PCOS) criteria. 66.7% of NIH-PCOS adolescents had a complete phenotype associated with hyperandrogenism, oligomenorrhea, and polycystic ovarian morphology, unlike only 33.3% of the Rotterdam-PCOS adolescents. A family history of type 2 diabetes mellitus (T2DM) was more frequent in PCOS than in non-PCOS girls, whichever criteria were used. Late pubertal development and a T1DM diagnosis close to puberty were factors associated with NIH-PCOS., Conclusion: Adolescents with T1DM had a high prevalence of PCOS. More differences between PCOS and non-PCOS patients were found using the NIH criteria, suggesting that clinical characteristics might be more accurate for diagnosing PCOS in girls with T1DM. A family history of T2DM is associated with a high risk of PCOS., (© 2017 S. Karger AG, Basel.)

Aims: To describe cortisol response to tetracosactide and to review the literature on adrenal function in non-classic congenital adrenal hyperplasia (NCCAH) patients., Methods: We compared cortisol responses to tetracosactide (250 μg) between NCCAH patients and a comparison group (CG) of patients with premature pubarche and normal tetracosactide test. An adequate cortisol response was defined as a peak ≥18 μg/dl., Results: We included 35 NCCAH patients (26 girls, 9 boys), whose mean age at testing was 7.0 years (0.8-15.6), and 47 patients in the CG (39 girls, 8 boys), whose mean age was 7.2 years (0.5-9.9). Baseline cortisol was significantly higher in the NCCAH group than in the CG [12.9 (4.3-22.2) vs. 9.7 (4.2-16.2) μg/dl, respectively; p = 0.0006]. NCCAH patients had lower cortisol peak response compared to the CG [18.2 (6.3-40) vs. 24.9 (12-30.3) μg/dl, respectively; p < 0.0001]. Peak cortisol was <18 μg/dl in 21/35 (60%) NCCAH patients versus 1/47 (2.1%) in the CG. No NCCAH patients had acute adrenal insufficiency, but 2 reported severe fatigue that improved with hydrocortisone., Conclusions: The cortisol response to tetracosactide was inadequate (<18 μg/dl) in 60% of patients with NCCAH. Hydrocortisone therapy may deserve consideration when major stress (surgery, trauma, childbirth) or objectively documented fatigue occurs in NCCAH patients with inadequate cortisol response., (© 2015 S. Karger AG, Basel.)

Context: Traumatic brain injury (TBI) in childhood is a major public health issue., Objective: We sought to determine the prevalence of pituitary dysfunction in children and adolescents after severe TBI and to identify any potential predictive factors., Design: This was a prospective longitudinal study., Setting: The study was conducted at a university hospital., Patients: Patients, hospitalized for severe accidental or inflicted TBI, were included. The endocrine assessment was performed between 6 and 18 months after the injury., Main Outcome Measures: Basal and dynamic tests of pituitary function were performed in all patients and GH dynamic testing was repeated in patients with low stimulated GH peak (<7 ng/mL). The diagnosis of proven severe GH deficiency (GHD) was based on the association of two GH peaks less than 5 ng/mL on both occasions of testing and IGF-I levels below -2 SD score. Initial cranial tomography or magnetic resonance imaging was analyzed retrospectively., Results: We studied 87 children and adolescents [60 males, median age 6.7 y (range 0.8-15.2)] 9.5 ± 3.4 months after the TBI (73 accidental, 14 inflicted). The second GH peak, assessed 4.9 ± 0.1 months after the first evaluation, remained low in 27 children and adolescents. Fifteen patients had a GH peak less than 5 ng/mL (mean IGF-I SD score -1.3 ± 1.5) and five (5.7%) strict criteria for severe GHD. Two children had mild central hypothyroidism and one had ACTH deficiency. We did not find any predictive factors associated with existence of GHD (demographic characteristics, growth velocity, trauma severity, and radiological parameters)., Conclusion: At 1 year after the severe TBI, pituitary dysfunction was found in 8% of our study sample. We recommend systematic hormonal assessment in children and adolescents 12 months after a severe TBI and prolonged clinical endocrine follow-up.

Background: Clinical and experimental studies show that unilateral (1/2Nx) and subtotal nephrectomy (5/6Nx) in adults result in compensatory renal growth without formation of new nephrons. During nephrogenesis, the response to renal mass reduction has not been fully investigated., Methods: Ovine fetuses underwent 1/2Nx, 5/6Nx, or sham surgery (sham) at 70 d of gestation (term: 150 d), when nephrogenesis is active. At 134 d, renal function was determined, fetuses were killed, and kidneys were further analyzed at the cellular and molecular levels. Additional fetuses subjected to 5/6Nx were killed at 80 and 90 d of gestation to investigate the kinetics of the renal compensatory process., Results: At 134 d, in 1/2Nx, a significant increase in kidney weight and estimated glomerular number was observed. In 5/6Nx, the early and marked catch-up in kidney weight and estimated glomerular number was associated with a striking butterfly-like remodeling of the kidney that developed within the first 10 d following nephrectomy. In all groups, in utero glomerular filtration rates were similar., Conclusion: Compensatory renal growth was observed after parenchymal reduction in both models; however, the resulting compensatory growth was strikingly different. After 5/6Nx, the remnant kidney displayed a butterfly-like remodeling, and glomerular number was restored.