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.

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

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.

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.

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.

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.

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).

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.

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.

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.

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.

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.

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.