AJP Reports最新文献

We report a case of a patient with severe fetal hydrops and refractory ascites, diagnosed as mucopolysaccharidosis type VII (MPS VII) by whole-exome sequencing, and discharged at 5 months of age after long-term ventilatory management. A male neonate was born by emergency cesarean section due to fetal distress at 30 ^1/7 weeks' gestation. Physical examination and X-rays revealed pleural effusion, ascites, and generalized edema, indicating severe fetal hydrops. He underwent tracheal intubation because of respiratory distress that was attributed to massive ascites, pulmonary hypoplasia, and pulmonary hypertension. He received mechanical ventilation and inhaled nitric oxide therapy. Prednisone, octreotide, and a factor XIII preparation were used as the treatment for ascites, and the ascites gradually decreased. He was extubated within 2 months of age. At 4 months of age, the results of whole-exome sequencing of the cord blood showed a compound heterozygous mutation in the GUSB gene, the gene responsible for MPS VII. Enzyme replacement therapy was initiated, and the ascites was resolved. Careful systemic management, including lung-protective respiratory management and the early establishment of nutrition, is important for the long-term survival of infants with fetal hydrops, and early aggressive workup, including whole-genome sequencing for the cause, should be performed in the case of refractory ascites.

Duct-dependent systemic circulation is accompanied by a right-to-left ductal shunt, at least during systole. Although observations of paradoxical continuous left-to-right shunts in duct-dependent systemic circulation have been reported, the mechanism remains unclear. We report a continuous left-to-right ductal shunt throughout the cardiac cycle during the initial recovery phase from circulatory collapse and right ventricular (RV) dysfunction due to ductal closure in an infant with hypoplastic left heart and severe aortic coarctation. Further recovery improved his RV function and changed the ductal flow from continuous left-to-right to bidirectional, which is usually seen in duct-dependent systemic circulation. Marked RV dysfunction may contribute to the continuous left-to-right ductal shunt. A continuous left-to-right ductal shunt should not be used to rule out duct-dependent systemic circulation.

We describe a case of osteogenesis imperfecta (OI) in a late preterm female of 35-week gestation. The mother did have a history of substance abuse, poor prenatal care, and hypertension. On the day of delivery, an ultrasound revealed skeletal dysplasia and breech with nonreassuring fetal tracing, leading to an emergency cesarean. The clinical exam was concerning for OI, and postnatal care was focused on optimizing respiratory status and minimizing pain and discomfort during routine care. Genetics, endocrine, orthopaedics, and palliative care were all involved to diagnose and educate the family. Support and education were needed for bedside staff to minimize angst at performing routine care, given the high risk of fractures. While initially stable on minimal oxygen, once the diagnosis of type III OI was made, a progressively deforming condition with respiratory status decompensation, the family wished to minimize suffering, limited aggressive medical care, and focused on comfort. The infant eventually died from respiratory failure in the neonatal intensive care unit. We present this case to demonstrate the need for an interdisciplinary team approach to support both family and staff in cases of OI.

We present a neonate with early onset apnea and bradycardia in the absence of primary cardiorespiratory and central nervous system disorders that eventually required chronic ventilator support starting at 6 hours of life. Molecular testing of paired-like homeobox 2b (PHOX2B) gene mutation confirmed the diagnosis of congenital central hypoventilation syndrome (CCHS). CCHS is a rare genetic disorder characterized by impaired central respiratory control with or without broad spectrum of autonomic nervous system (ANS) dysregulations. Ocular ANS dysregulation is a rare finding in CCHS individuals, and it is usually discovered later in life. However, the ophthalmic evaluation of this neonate on first day of life revealed persistent mild dilated oval pupils with limited light reactivity.

We describe a case of osteogenesis imperfecta (OI) in a late preterm female of 35-week gestation. The mother did have a history of substance abuse, poor prenatal care, and hypertension. On the day of delivery, an ultrasound revealed skeletal dysplasia and breech with nonreassuring fetal tracing, leading to an emergency cesarean. The clinical exam was concerning for OI, and postnatal care was focused on optimizing respiratory status and minimizing pain and discomfort during routine care. Genetics, endocrine, orthopaedics, and palliative care were all involved to diagnose and educate the family. Support and education were needed for bedside staff to minimize angst at performing routine care, given the high risk of fractures. While initially stable on minimal oxygen, once the diagnosis of type III OI was made, a progressively deforming condition with respiratory status decompensation, the family wished to minimize suffering, limited aggressive medical care, and focused on comfort. The infant eventually died from respiratory failure in the neonatal intensive care unit. We present this case to demonstrate the need for an interdisciplinary team approach to support both family and staff in cases of OI.

The objective were to: (1) evaluate associations between food security and women diagnosed with gestational diabetes mellitus (GDM) and (2) evaluate if women in food insecure (FI) households had adverse maternal and neonatal outcomes. This was an observational study from October 2018 until September 2019. Postpartum resident clinic patients who delivered term, singleton infant at 37 weeks' or longer gestation were screened. Participants completed a survey using the U.S. Household Food Security Survey Module (US HFSSM). Survey responses were classified as: food secure (FS) and FI (marginal, low, very low FS). The primary outcome was GDM. Our secondary outcome was neonatal intensive care unit (NICU) admissions for hypoglycemia. We evaluated the rate of GDM in FS and FI groups. Demographic data included: prepregnancy body mass index, total weight gain during pregnancy, birth weight, and mode of delivery. A logistic regression model was used to analyze the association between food insecurity and GDM. A p -value of less than 0.05 was considered statistically significant. There were 150 patients screened to participate; of these, 70 patients were enrolled (36 GDM and 34 without GDM [NGDM]). More patients in FI households, 71% ( n  = 17), were diagnosed with GDM, compared with 33% ( n  = 15) in the FS (FS) households (adjusted odds ratio 7.05; p  < 0.01). Of patients who reported FI, 50% ( n  = 12) were black, 46% ( n  = 11) Hispanic, and 4% ( n  = 1) Caucasian, compared with 13% ( n  = 6) black, 30% ( n  = 14) Hispanic, and 57% ( n  = 26) Caucasian in patients who reported FS ( p  < 0.001). Although not significant, 25% ( n  = 6) of neonates from an FI household had an NICU admission for hypoglycemia compared with 7% ( n  = 3) from an FS household ( p  = 0.054). Pregnant women with GDM are more likely to experience FI than those with NGDM. Infants of mothers in FI households also had increased rates of NICU admission for hypoglycemia.

Early-onset neonatal sepsis contributes substantially to neonatal morbidity and mortality. Presenting signs and symptoms vary, and most causes are due to a limited number of common microbes. However, providers must be cognizant of unusual pathogens when treating early-onset sepsis (EOS). We report a case of a term neonate who presented with respiratory distress, lethargy, and hypoglycemia 5 hours after birth. He was treated for presumed EOS with blood culture, revealing an unusual pathogen, Pasteurella multocida . Sepsis from this pathogen is a rarely reported cause of early onset neonatal sepsis. Our report is one of few that implicate vertical transmission with molecular diagnostic confirmation of P . multocida , subspecies septica. The neonate was treated with antibiotics and supportive care and recovered without ongoing complications. Providers should maintain an index of suspicion for rare causes of neonatal EOS. For these unusual cases, precise microbial identification enables understanding to provide best clinical care and anticipation of complications.

Arhinia is a rare congenital anomaly that is not typically associated with known genetic mutations and is usually discovered after an affected infant is born. Prenatal diagnosis is important because neonates with arhinia often require specialized respiratory support with creation of an artificial airway. We present a case of isolated arhinia diagnosed on second-trimester ultrasound. A patient presented for routine ultrasound at 18 weeks gestation, and nasal tissues were absent in an otherwise morphologically normal appearing fetus. Cell free fetal DNA was unremarkable. The patient elected to undergo termination of pregnancy by dilation and evacuation. Subsequent genetic analysis confirmed a normal fetal karyotype and microarray, and no examination of fetal structural anatomy was possible. Antenatal diagnosis of arhinia is important to guide maternal-fetal care decisions and requires methodical sonographic evaluation to identify this malformation prior to delivery.

The objective of this study was to develop a structural-cognitive-behavioral model for error analysis of group B streptococcus (GBS) prophylaxis failure, classify delivery cases into this model, and examine compliance with treatment guidelines. A retrospective, cohort study was conducted of women with liveborn pregnancies greater than 24 weeks in April 2018 at a single hospital. We created a structural-cognitive-behavioral model of five assessments for adherence to GBS prophylaxis guidelines and then classified these into four distinct error stages. A descriptive analysis was performed to determine if the pregnancy had a perfect process, a GBS prophylaxis failure, or a fortuitous outcome. There were 313 women who met the study criteria. The rate of GBS positive was 12.8%, negative 37.4%, and unknown 49.8%. The most common errors were cognitive perception errors related to incorrectly documenting GBS status, 57.7% ( N  = 79). Of these errors, 15.2% ( N  = 12) led to GBS prophylaxis failure. Perfect outcomes occurred in 62.7% ( N  = 196) women, GBS prophylaxis failure occurred in 13.7% ( N  = 43), and fortuitous outcomes occurred in 23.6% ( N  = 74). In our study, we were able to identify structural, cognitive, and behavioral errors that contribute to GBS prophylaxis failures. In other cases, these errors may contribute to fortuitous outcomes.

Objective  This survey study aimed to assess patient knowledge, clinical resources, and utilized resources about genetic screening and diagnostic testing. Study Design  A one-time anonymous paper survey was distributed to 500 patients at a major urban obstetrics and gynecology department, and an online survey was sent to 229 providers. Descriptive statistics and chi-squared analyses were performed. Results  In all, 466 of 500 patient surveys were completed, and 441 analyzed (88.2% response rate). Among providers, 66 of 229 (29.0% response rate) responded. Patients were on average 32 years old, 27 weeks pregnant, and most often reported a graduate degree level of education (47.4%). Over 75% of patients reported accurate knowledge of basic genetic statements. Patients reported that discussing screening and diagnostic testing with their provider was significantly associated with properly defining screening and diagnostic testing ( p  < 0.001). Less than 10% of patients reported providers distributing web/video links, books, or any other resource; however, patients most often independently accessed web links (40.1%). Conclusion  Our findings suggest a positive impact from patient and provider discussions in office on patient knowledge and understanding. Discrepancies between educational resources distributed in the clinic and individually accessed resources highlight possible areas of change. Future work should evaluate and implement differing resources to increase patient knowledge.