Congenital CMV in the Neonate: A Primer.

Cytomegalovirus, one of the most common congenital viruses in neonates, is represented within the TORCH acronym, which signifies its ability to be transmitted vertically to the fetus during maternal infection. Despite advances in prenatal diagnostics, CMV is still the leading cause of congenital infection in neonates, with a 0.64% prevalence. Additionally, the virus causes the majority of non-genetic hearing deficits, abnormal neurologic development, and other permanent disabilities seen in neonates. This primer describes the presentation, diagnosis, and treatment of congenital infection to benefit providers who work with women during the perinatal period as well as neonates and pediatric patients.

Developmental Dysplasia of the Hip in Infants - A Review for Providers.

Developmental dysplasia of the hip (DDH), historically known as congenital hip dysplasia, is a multifactorial disease that affects numerous infants and children every year. DDH encompasses a wide spectrum of joint pathology and therefore screening recommendations, including serial physical examination and appropriate imaging if needed, are utilized to diminish the risk of abnormal hip development which may later impact mobility. Risk factors are poor predictors of DDH, but may increase its likelihood, and include female gender, breech positioning in the third trimester, multiple gestation and family history. Surveillance options include ultrasound prior to 4-6 months of age and radiography beyond 6 months, to include anteroposterior views and frog pelvis views. Treatment options consist of the Pavlik splint, spica casting, and surgical intervention.

Chromosome 2 Microdeletion Syndrome in a Newborn with Amniotic Band Sequence.

We report a case of amniotic band sequence (ABS) with a 5 kilobase microdeletion at 2p15. The newborn was delivered with absence of the right hand and distal segments of the left digits, consistent with amniotic band sequence. The clinical findings included a lumbar meningocele, bilateral clubfeet, adrenal hypertrophy, microcephaly, and facial dysmorphism. Due to these congenital anomalies not directly associated with ABS, a SNP chromosomal microarray was ordered and identified a 51 kilobase deletion at 2p15, which includes two known genes, USP34 (ubiquitin specific protease 34) and SNORA70B (small nucleolar RNA H/ACA box 70B). The clinical significance of this specific deletion is unknown at this time; however, there have been several case reports with a larger deletion which include these two genes and have been shown to affect neurodevelopment.

Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.

Pathogenic variants in PHOX2B lead to congenital central hypoventilation syndrome (CCHS), a rare disorder of the nervous system characterized by autonomic dysregulation and hypoventilation typically presenting in the neonatal period, although a milder late-onset (LO) presentation has been reported. More than 90% of cases are caused by polyalanine repeat mutations (PARMs) in the C-terminus of the protein; however non-polyalanine repeat mutations (NPARMs) have been reported. Most NPARMs are located in exon 3 of PHOX2B and result in a more severe clinical presentation including Hirschsprung disease (HSCR) and/or peripheral neuroblastic tumors (PNTs). A previously reported nonsense pathogenic variant in exon 1 of a patient with LO-CCHS and no HSCR or PNTs leads to translational reinitiation at a downstream AUG codon producing an N-terminally truncated protein. Here we report additional individuals with nonsense pathogenic variants in exon 1 of PHOX2B. In vitro analyses were used to determine if these and other reported nonsense variants in PHOX2B exon 1 produced N-terminally truncated proteins. We found that all tested nonsense variants in PHOX2B exon 1 produced a truncated protein of the same size. This truncated protein localized to the nucleus and transactivated a target promoter. These data suggest that nonsense pathogenic variants in the first exon of PHOX2B likely escape nonsense mediated decay (NMD) and produce N-terminally truncated proteins functionally distinct from those produced by the more common PARMs.

Pregnancy and Parenthood During Medical School.

PURPOSE: The stress of pregnancy and parenthood during the intense educational experience of medical school could increase the risk of student burnout. Because 9.2 percent of U.S. medical students are parents by graduation, it would seem prudent to include this topic in wellness programs and policies. The purpose of this study was to determine the effects of pregnancy and parenthood on medical students. METHOD: This was a cross-sectional, internet survey distributed to all four classes of medical students at the University of South Dakota Sanford School of Medicine during the 2016-2017 academic year. The survey determined self-reported pregnancy and parenthood information, knowledge of a medical school pregnancy policy, and policy recommendations. RESULTS: More than 85 percent of the 194 respondents recommended that the following elements be included in an institutional policy: process for arranging parental leave, how leave time might affect graduation, how missed requirements could be made up, and how to request special accommodation or leave. Twenty-nine of the respondents (15 percent) were parents or currently pregnant. Eight pregnancies during medical school were associated with complications, including three miscarriages. Of the 18 students who reported maternity or paternity leave, 13 (72 percent) and 10 (56 percent) would have extended their leave time if it did not delay graduation or only reduced their number of elective rotations, respectively. No student would choose to extend leave if it would delay graduation. CONCLUSIONS: This survey is the first of its kind investigating pregnancy and parenthood in medical students attending a U.S. medical school. Students want schools to provide clear, well-defined guidelines, scheduling flexibility and administrators who are approachable and understanding of their individual circumstances.

Neonatal hyperbilirubinemia--an update for South Dakota physicians.

Most newborn infants develop hyperbilirubinemia in the neonatal period. Excessive levels of hyperbilirubinemia places the infant at risk for bilirubin encephalopathy. We discuss the metabolism of bilirubin and the most likely etiologies for elevated bilirubin levels in the newborn. We describe methods to evaluate bilirubin levels and the formal hyperbilirubinemia risk assessment each infant deserves prior to discharge from the nursery. In addition, we review management of infants with hyperbilirubinemia, including phototherapy, intravenous immunoglobulin and exchange transfusion.

31-Week Premature Male with Congenital Syphilis.

The incidence of syphilis is on the rise in many parts of the U.S., including South Dakota. We present a case of congenital syphilis and review the evaluation, clinical course, and treatment of this devastating disease process.

A Hutterite condition that mimics Bowen-Conradi syndrome.

Bowen-Conradi syndrome (BCS) is a common autosomal recessive condition in the Hutterite population. In 2012, when BCS clinical testing was not available, we reported two babies believed to have BCS based upon their clinical features. Diagnostic molecular testing is now available for this condition. We describe here a brother born to the parents of one of the infants in our previous report. Although clinically both babies in the 2012 report appeared to have the same condition, this current infant was found to have a normal EMG1 gene sequence, and thus, lacks the Hutterite mutation for BCS. We discuss the importance of molecular testing in the Hutterite population.

Bowen-Conradi Syndrome: a trisomy 18-like autosomal recessive disorder common in Hutterites.

Bowen-Conradi syndrome (BCS) is a common lethal condition amongst infants of Hutterite ancestry. We describe a newborn infant with features of BCS, which may mimic trisomy 18 and other conditions such as cerebro-oculo-facial syndrome (COFS) and CHARGE syndrome. We describe the constellation of clinical findings in BCS. We believe this is the first case of BCS clinically confirmed by molecular testing for mutation in the EMG1 gene.

Respiratory distress in the newborn.

Respiratory distress presents as tachypnea, nasal flaring, retractions, and grunting and may progress to respiratory failure if not readily recognized and managed. Causes of respiratory distress vary and may not lie within the lung. A thorough history, physical examination, and radiographic and laboratory findings will aid in the differential diagnosis. Common causes include transient tachypnea of the newborn, neonatal pneumonia, respiratory distress syndrome (RDS), and meconium aspiration syndrome (MAS). Strong evidence reveals an inverse relationship between gestational age and respiratory morbidity. (1)(2)(9)(25)(26) Expert opinion recommends careful consideration about elective delivery without labor at less than 39 weeks' gestation. Extensive evidence, including randomized control trials, cohort studies, and expert opinion, supports maternal group B streptococcus screening, intrapartum antibiotic prophylaxis, and appropriate followup of high-risk newborns according to guidelines established by the Centers for Disease Control and Prevention. (4)(29)(31)(32)(34) Following these best-practice strategies is effective in preventing neonatal pneumonia and its complications. (31)(32)(34). On the basis of strong evidence, including randomized control trials and Cochrane Reviews, administration of antenatal corticosteroids (5) and postnatal surfactant (6) decrease respiratory morbidity associated with RDS. Trends in perinatal management strategies to prevent MAS have changed. There is strong evidence that amnioinfusion, (49) oropharyngeal and nasopharyngeal suctioning at the perineum, (45) or intubation and endotracheal suctioning of vigorous infants (46)(47) do not decrease MAS or its complications. Some research and expert opinion supports endotracheal suctioning of nonvigorous meconium-stained infants (8) and induction of labor at 41 weeks' gestation (7) to prevent MAS.

The neonatal Golden Hour--intervention to improve quality of care of the extremely low birth weight infant.

INTRODUCTION: The "Golden Hour," the first 60 minutes following the birth of an extremely premature infant, are perhaps the most important of his or her life. Specific attention to respiratory management, temperature regulation, and vascular access, undertaken via a standardized approach may have immeasurable long-term benefits, and make the difference between life and death. METHODS: We present our new approach to the extremely premature infant during the Golden Hour, a protocol to improve the initial body temperature, length of hospital stay, and incidence of bronchopulmonary dysplasia of the extremely low birth weight infant. RESULTS: We did not find statistically significant differences in minimum temperature during resuscitation, length of hospital stay or rate of bronchopulmonary dysplasia after implementation of the Golden Hour. We observed a decrease in the incidence of intraventricular hemorrhage (IVH) (18 versus 46 percent). The placement of umbilical catheters was much faster during the Golden Hour (35 versus 56 minutes) but arrival in the NICU was significantly delayed (80 versus 15 minutes). CONCLUSIONS: We were not able to detect differences in temperature management, bronchopulmonary dysplasia or average length of hospital stay following implementation of the Golden Hour protocol. However, we observed a marked decrease in intraventricular hemorrhage and faster time for umbilical catheter insertion than prior to the protocol. Long-term follow-up of these infants is critical to assess neurodevelopmental benefits gained from use of the protocol.

Elements of Pregnancy and Parenthood Policies of Importance to Medical Students and Included in a Sample of Medical Schools' Websites and Student Handbooks.

Background: Medical students who are parents or considering parenthood often want information about school policies. An earlier survey of 194 medical students from one U.S. school examined seven "elements that [students thought] should be included in a school policy on pregnancy/maternity leave." For example, students want to know "how much time a student can take off during medical school and still graduate with their class." We performed multivariate and multivariable analyses of the University of South Dakota survey to understand its generalizability and usefulness. Methods: The earlier survey also included 35 demographic variables about individual students. We tested empirically for associations between the demographics and the seven policy items, thereby evaluating generalizability of the survey results to different demographic groups. We then surveyed public websites of a sample of U.S. medical schools to evaluate usefulness of the knowledge of the seven items. For the 33 surveyed schools, we documented if each of the items was present on publicly available webpages and handbooks. Results: The seven items had content validity as a necessary and sufficient set of items. There also were no significant associations of the items with demographic variables. Therefore, there is little chance that differences among medical schools in their average demographic would affect the items needed for their websites and student handbooks. Among the surveyed medical school websites, 1 of 33 had all seven items (upper 95% confidence limit: 14% of schools nationally would be expected to have all seven items shown). Conclusions: These findings show that it is known what information students want to know about in a school policy on pregnancy and parental leave. Adding these items to public websites is a necessary and an easily actionable intervention to help current and future medical students.