AJP Reports最新文献

Background  Neonatal hemochromatosis (NH) is a rare condition that was the main reason for liver transplantation in infants. With the realization that NH results from the fetal complement-mediated liver injury, intravenous immunoglobulins (IVIG) were successfully introduced for the treatment. Case Presentation  We present two cases of NH from the same family to illustrate the role of antenatal treatment with IVIG in alleviation and possible prevention of this serious morbidity. Conclusion  A prenatal treatment and early postnatal administration of IVIG are effective ways to manage NH that help to reduce the severity of the symptoms, prevent liver failure, and avoid the need for liver transplantation.

Kagami-Ogata syndrome (KOS) (OMIM #608149) is a genetic imprinting disorder affecting chromosome 14 that results in a characteristic phenotype consisting of typical facial features, skeletal abnormalities including rib abnormalities described as "coat hanger ribs," respiratory distress, abdominal wall defects, polyhydramnios, and developmental delay. First identified by Wang et al in 1991, over 80 cases of KOS have been reported in the literature. KOS, however, continues to remain a rare and potentially underdiagnosed disorder. In this report, we describe two unrelated male infants with differing initial presentations who were both found to have the characteristic "coat hanger" rib appearance on chest X-ray, raising suspicion for KOS. Molecular testing confirmed KOS in each case. In addition to these new cases, we reviewed the existing cases reported in literature. Presence of polyhydramnios, small thorax, curved ribs, and abdominal wall defects must alert the perinatologist toward the possibility of KOS to facilitate appropriate molecular testing. The overall prognosis of KOS remains poor. Early diagnosis allows for counseling by a multidisciplinary team and enables parents to make informed decisions regarding both pregnancy management and postnatal care.

Recent studies have shown favorable outcomes for intra-abdominal umbilical vein varices (IUVVs) in term neonates who have no other complications. Little is known, however, about the prognosis of IUVVs in preterm neonates. We encountered a case of IUVV in an extremely low-birth-weight infant who developed severe consumptive coagulopathy after birth. The patient's coagulation test normalized as the varix spontaneously obstructed. Although life-threatening hemorrhagic complications were avoided, a cerebellum hemorrhage was found in the brain magnetic resonance imaging at the term-equivalent age. In a literature survey, coagulopathy was reported in 4 out of 15 infants with IUVVs born before 34 weeks of gestation, including our present case. Preterm infants with IUVVs may develop coagulopathy because of the prematurity of their coagulation-fibrinolysis systems. Attention should be given to the coagulation status of preterm neonates with IUVVs.

Neonatal intra-abdominal hemorrhage has been rarely reported in the literature. We report a case of splenic injury in a neonate, highlighting the importance of a high-index suspicion in early recognition of this rare and potentially fatal injury. We report the first case of a neonate who had a splenic rupture and underwent successful endovascular treatment.

Pulmonary interstitial emphysema (PIE) occurs when air leaks into the pulmonary interstitium due to overdistension of distal airways, it occurs mainly in neonates with respiratory distress syndrome who need positive pressure ventilation but has also been reported in spontaneously breathing infants. Herein, we report on an extremely low birth weight infant with severe persistent PIE, while on invasive mechanical ventilation (high-frequency oscillatory ventilation, high-frequency jet ventilation, and neurally adjust ventilator assist) managed successfully with 2 weeks of selective right lung ventilation after failure of more conservative measures, including shorter periods of right mainstem intubation, before the prolonged trial that was successful.

Neonates born to mothers with coronavirus disease 2019 (COVID-19) have been largely asymptomatic based on initial reports. All neonates born to mothers with COVID-19 have tested negative for severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) in our institution (published data as of April 12, 2020). As novel presentations of COVID-19, such as multisystem inflammatory syndrome in children are being increasingly reported, we raise the possibility of increased incidence of pneumothorax in neonates born to SARS-CoV-2-positive mothers. Two recently described neonates with COVID-19 infection were noted to have pneumothoraces. We describe two SARS-CoV-2-negative neonates born to COVID-19-positive mothers at 38 and 33 weeks, respectively, admitted to our neonatal intensive care unit for respiratory distress and subsequently developed pneumothoraces. As diverse clinical presentations in various age groups are being described, it becomes difficult to differentiate the increased incidence of complications related to an underlying illness, from COVID-19-related illness. It remains to be seen if neonates with in utero exposure to SARS-CoV-2 have an elevated inflammatory response with pneumonitis and exaggerated lung disease, similar to adult COVID-19 patients, due to in utero exposure.

Objective  The aim of the study is to evaluate the risk of preterm birth (PTB, <37 weeks) and early term (37 and 38 weeks) birth among women with an emergency department (ED) visit or hospitalization with a urinary tract infection (UTI) by trimester of pregnancy. Methods  The primary sample was selected from births in California between 2011 and 2017. UTIs were identified from the ED or hospital discharge records. Risk of PTB, by subtype, and early term birth were evaluated by trimester of pregnancy and by type of visit using log-linear regression. Risk ratios were adjusted for maternal factors. Antibiotic usage was examined in a population of privately insured women from Iowa. Results  Women with a UTI during pregnancy were at elevated risk of a birth <32 weeks, 32 to 36 weeks, and 37 to 38 weeks (adjusted risk ratios [aRRs] 1.1-1.4). Of the women with a diagnostic code for multiple bacterial species, 28.8% had a PTB. A UTI diagnosis elevated risk of PTB regardless of antibiotic treatment (aRR 1.4 for treated, aRR 1.5 for untreated). Conclusion  UTIs are associated with early birth. This association is present regardless of the trimester of pregnancy, type of PTB, and antibiotic treatment.

Objective  The aim of the study is to investigate the association between intrapartum administration of magnesium sulfate in women with hypertensive disorders of pregnancy and postpartum hemorrhage. Study Design  This was a retrospective cohort study of women diagnosed with a hypertensive disorder of pregnancy who delivered singleton gestations >32 weeks at a single, large volume tertiary care center between January 2006 and February 2015. Women who received intrapartum magnesium sulfate for seizure prophylaxis were compared with women who did not receive intrapartum magnesium sulfate. The primary outcome was frequency of postpartum hemorrhage. Secondary outcomes included estimated blood loss, uterine atony, and transfusion of packed red blood cells. Bivariable analyses were used to compare the frequencies of each outcome. Multivariable logistic regression models examined the independent associations of magnesium sulfate with outcomes. Results  Of 2,970 women who met inclusion criteria, 1,072 (36%) received intrapartum magnesium sulfate. Women who received magnesium sulfate were more likely to be nulliparous, publicly insured, of minority race or ethnicity, earlier gestational age at delivery, and undergo labor induction. The frequency of postpartum hemorrhage was significantly higher among women who received magnesium sulfate compared with those who did not (12.4 vs. 9.3%, p  = 0.008), which persisted after controlling for potential confounders. Of secondary outcomes, there was no difference in estimated blood loss between women who did and did not receive magnesium sulfate (250 mL [interquartile range 250-750] vs. 250 mL [interquartile range 250-750], p  = 0.446). However, compared with women who did not receive magnesium sulfate, women who received magnesium sulfate had a greater frequency of uterine atony (8.9 vs 4.9%, p  < 0.001) and transfusion of packed red blood cells (2.0 vs. 0.8%, p  = 0.008). These differences persisted after controlling for potential confounders. Conclusion  Intrapartum magnesium sulfate administration to women with hypertensive disorders of pregnancy is associated with increased odds of postpartum hemorrhage, uterine atony, and red blood cell transfusion.

Case Report  A 32-year-old female with a history of three prior pregnancy losses presented for genetic testing following an ultrasonography diagnosis of fetal hydranencephaly. Baby was born via C-section and was noted to have a head circumference of 48 cm, in addition to ocular and cardiac anomalies and dysmorphic features. Whole genome sequencing revealed a homozygous variant in LAMB1 gene. Discussion  The pathobiogenesis of hydranencephaly is incompletely understood and is attributed to vascular, infectious, or genetic etiology. Herein we present LAMB1 as a monogenic cause of fetal hydranencephaly which was incompatible with life. Previously, LAMB1 -associated phenotype consisted of cobblestone lissencephaly and hydrocephalus, developmental delay, and seizures. Our proband expands the phenotypic spectrum of this malformative encephalopathy.

Background  Broad ligament hematomas are rare in the setting of vaginal delivery. When they do occur, patients typically present with acute hemodynamic instability. No cases of infected broad ligament hematomas have been reported. Case  A 22-year-old G2 P1011 status post vaginal delivery complicated by chorioamnionitis and pre-eclampsia presented 5 days postpartum with subjective complaints of fever, vomiting, and increased vaginal bleeding. She was treated with antibiotics and uterine evacuation was planned for presumed retained products. After dilation and curettage, the patient was transferred to our facility, as her clinical status did not improve, and was later found to have an infected broad ligament hematoma requiring hysterectomy. Conclusion  Though uncommon, broad ligament hematomas should be considered in postpartum women presenting with anemia and vaginal bleeding, even without hemodynamic instability. Recent intrauterine infections may predispose to hematoma infection.