AJP Reports最新文献

{"title":"Congenital Sodium Diarrhea: Antenatal Diagnosis May Prevent Unnecessary Surgery in the Neonate.","authors":"Dana S Berger, Virginia Tancioco, Vineet K Shrivastava","doi":"10.1055/s-0043-1776148","DOIUrl":"10.1055/s-0043-1776148","url":null,"abstract":"<p><p>Congenital sodium diarrhea (CSD) is a rare, life-threatening condition characterized by intractable diarrhea, hyponatremia, and metabolic acidosis. It presents similarly to other congenital disorders and, therefore, is often misdiagnosed and mistreated. We present a case of CSD that presented with dilated loops of bowel and polyhydramnios at 18 weeks and was thought to be a congenital bowel obstruction. The patient was therefore managed surgically after birth with a diverting ileostomy, however was later found to have elevated stool sodium levels and metabolic derangements consistent with CSD. Our case demonstrates the need for high index of suspicion for congenital diarrheal disorders to prevent unnecessary surgery and a delay in appropriate medical management of this rare condition.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"13 4","pages":"e61-e64"},"PeriodicalIF":0.9,"publicationDate":"2023-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10627711/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71477161","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between Maternal Neuraxial Analgesia and Neonatal Outcomes in Very Preterm Infants.","authors":"Lilly Y Liu, Elizabeth M S Lange, Lynn M Yee","doi":"10.1055/s-0043-1776147","DOIUrl":"10.1055/s-0043-1776147","url":null,"abstract":"&lt;p&gt;&lt;p&gt;&lt;b&gt;Background&lt;/b&gt;  Although the use of neuraxial analgesia has been shown to improve uteroplacental blood flow and maternal and fetal hemodynamics related to labor pain, possibly improving immediate outcomes in term neonates, the association between neuraxial analgesia use and outcomes in preterm neonates remains unclear. &lt;b&gt;Objective&lt;/b&gt;  The aim of this article was to evaluate the association between maternal use of neuraxial analgesia and neonatal outcomes in very preterm infants. &lt;b&gt;Methods&lt;/b&gt;  This is a retrospective cohort study of women delivering singleton neonates between 23 and 32 weeks' gestation at a large academic center between 2012 and 2016. Outcomes of neonates born to women who used neuraxial analgesia for labor and/or delivery were compared to those whose mothers did not. Multivariable logistic regression was utilized to assess the independent associations of neuraxial analgesia use with neonatal outcomes after controlling for potential confounders, including gestational age, mode of delivery, and existing interventions to improve neonatal outcomes of prematurity. &lt;b&gt;Results&lt;/b&gt;  Of 478 eligible women who delivered singleton very preterm neonates in this study period, 352 (73.6%) used neuraxial analgesia. Women who used neuraxial analgesia were more likely to have delivered at a later preterm gestational age, to have a higher birthweight, to have preeclampsia and/or hemolysis, elevated liver enzymes, low platelet count (HELLP), to have undergone labor induction, to have delivered by cesarean delivery, and to have received obstetric interventions such as magnesium prophylaxis for fetal neuroprotection, antenatal corticosteroids for fetal lung maturity, and antibiotics prior to delivery; they were less likely to have been diagnosed with a clinical abruption. Neuraxial analgesia was associated with decreased incidence of cord umbilical artery pH less than 7.0 (24.7 vs. 34.9%, &lt;i&gt;p&lt;/i&gt;  = 0.03), as well as decreased incidence of neonatal intensive care unit length of stay over 60 days (35.5 vs. 48.4%, &lt;i&gt;p&lt;/i&gt;  = 0.01), although these associations did not persist on multivariable analysis. On multivariable analyses, neuraxial analgesia remained independently associated with decreased odds of necrotizing enterocolitis (adjusted odds ratio [aOR]: 0.28, 95% confidence interval [CI]: 0.12-0.62) and grade III/IV intraventricular hemorrhage (aOR: 0.33, 95% CI: 0.13-0.87). These associations remained significant on sensitivity analyses, which were performed between 10 and 90% of the overall cohort in order to control for outliers, as well as between the subgroup of patients who received obstetric interventions. &lt;b&gt;Conclusions&lt;/b&gt;  Maternal neuraxial analgesia use may be associated with lower odds of adverse outcomes in very preterm infants, even after controlling for existing interventions for prematurity. Prior work has suggested such effects may be due to improved neonatal acid-base status from changes in placental perfusion and m","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"13 4","pages":"e65-e70"},"PeriodicalIF":0.9,"publicationDate":"2023-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10627713/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71477160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Complete Hydatidiform Mole with a Coexisting Viable Male Fetus Detected by Cell-Free DNA.","authors":"Mackenzie Lemieux,&nbsp;Lauren Kus,&nbsp;Kali Stewart,&nbsp;Mai He,&nbsp;Jackson Rowe,&nbsp;Matthew Brady,&nbsp;Katherine Bligard,&nbsp;Megan Lawlor,&nbsp;Jeannie Kelly","doi":"10.1055/s-0043-1774727","DOIUrl":"https://doi.org/10.1055/s-0043-1774727","url":null,"abstract":"<p><p>Complete hydatidiform mole with coexisting fetus (CHMCF) is rare, and diagnosis is challenging due to limited data. Here, we present the case of a patient with noninvasive prenatal test (NIPT) resulting in \"likely molar pregnancy\" in the second trimester. Subsequent ultrasound confirmed a cystic appearing portion of the placenta. At 22 weeks, the patient delivered a demised fetus and two placentas. Pathology was consistent with CHMCF. This case is the first to show primary detection of a CHMCF with single-nucleotide polymorphism (SNP)-based NIPT prior to ultrasound identification. Our case suggests the use of SNP-based NIPT as an alternative noninvasive method to guide shared decision-making and clinical management for patients with this diagnosis.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"13 3","pages":"e49-e52"},"PeriodicalIF":0.9,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/12/58/10-1055-s-0043-1774727.PMC10541990.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41095733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unilateral Lung Agenesis: A Case Series and Review of Literature.","authors":"Jennifer Weber,&nbsp;Sunil Kumar Sati,&nbsp;Vijender Rao Karody","doi":"10.1055/a-2107-0651","DOIUrl":"https://doi.org/10.1055/a-2107-0651","url":null,"abstract":"<p><p>Unilateral lung agenesis is a rare congenital abnormality that typically presents with respiratory distress after birth. Prognostic factors include the side of the lung affected along with the presence or absence of other congenital abnormalities. Prenatal imaging can make the diagnosis that can assist the healthcare team in preparing to care for the neonate, as well as set expectations for the family. In this case series, we describe three cases of unilateral lung agenesis, two infants with right lung agenesis, and one with the left. We describe their presentation, provide a brief clinical course, and discuss outcomes.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"13 3","pages":"e40-e43"},"PeriodicalIF":0.9,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/dd/3e/10-1055-a-2107-0651.PMC10348820.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9826435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn.","authors":"Hiromitsu Shirozu,&nbsp;Masako Ichiyama,&nbsp;Masataka Ishimura,&nbsp;Kuraoka Ayako,&nbsp;Naoki Egami,&nbsp;Kang Dongchon,&nbsp;Toshihide Nakano,&nbsp;Koichi Sagawa,&nbsp;Shouichi Ohga","doi":"10.1055/a-2101-7738","DOIUrl":"https://doi.org/10.1055/a-2101-7738","url":null,"abstract":"<p><p>Ductus arteriosus aneurysm (DAA) asymptomatically occurs in newborn infants and resolves spontaneously. High-risk DAA with compression, rupture, and thrombosis requires early surgical intervention. Newborn infants have the highest risk of thrombosis among pediatric patients, but the genetic predisposition is difficult to determine in infancy. We herein report a neonatal case of massive thromboses in DAA and pulmonary artery. Desaturation occurred in an active full-term infant 2 days after birth. Echocardiography and contrast-enhanced computed tomography indicated thrombotic occlusion of the DAA and pulmonary artery thrombus. Urgent thrombectomy and ductus resection were successfully performed. After 6 months of anticoagulant therapy, the dissociated low plasma activity levels of protein S from protein C suggested protein S deficiency. A genetic study of <i>PROS1</i> identified a heterozygous variant of protein S K196E, a low-risk variant of thrombophilia in Japanese populations. There have been seven reported cases with neonatal-onset symptomatic thromboses of DAA involving the pulmonary artery. All survived without recurrence after surgical intervention in five and anticoagulant therapy alone in two. Two newborns had a heterozygous methylenetetrahydrofolate reductase ( <i>MTHFR</i> ) variant, but information on thrombophilia was not available for any other cases. A genetic predisposition may raise the risk of DAA thrombosis, leading to rapid progression.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"13 3","pages":"e44-e48"},"PeriodicalIF":0.9,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c4/ec/10-1055-a-2101-7738.PMC10361822.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9864385","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autoimmune Congenital Complete Heart Block: How Late Can It Occur?","authors":"Luv Makadia,&nbsp;Peter Izmirly,&nbsp;Jill P Buyon,&nbsp;Colin K L Phoon","doi":"10.1055/s-0043-1768708","DOIUrl":"https://doi.org/10.1055/s-0043-1768708","url":null,"abstract":"<p><p><b>Objective</b>  Maternal anti-Ro (SSA) and/or anti-La (SSB) antibodies are a risk factor for congenital complete heart block (CHB). Because detailed analysis of the incidence of CHB after 24 weeks of gestational age (GA) is lacking, we aimed to ascertain the risk of \"later-onset\" CHB among offspring of SSA/SSB-positive mothers in the published literature. <b>Study Design</b>  Using search terms \"neonatal lupus heart block\" and \"autoimmune congenital heart block\" on PubMed and Ovid, we gathered prospective studies of SSA/SSB-positive mothers with fetal echo surveillance starting from before CHB diagnosis and retrospective cases of fetal CHB diagnosis after 24 weeks of GA (if there was prior normal heart rate) or after birth. <b>Results</b>  Ten prospective studies included 1,248 SSA/SSB-positive pregnancies with 24 cases of CHB diagnosed during pregnancy (1.9%). Among these, three (12.5%) were after 24 weeks-at weeks 25, 26, and 28. Our retrospective studies revealed 50 patients with CHB diagnosis in late fetal life and neonatal period and 34 in the nonneonatal childhood period. An additional four cases were diagnosed after age 18 years. <b>Conclusion</b>  Later-onset autoimmune CHB in offspring of SSA/SSB-positive mothers does occur. Our analysis suggests that prenatal surveillance should continue beyond 24 weeks of GA but is limited by inconsistent published surveillance data.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"13 2","pages":"e29-e34"},"PeriodicalIF":0.9,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/30/51/10-1055-s-0043-1768708.PMC10166639.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9446077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital Maxillomandibular Synechia with Multiple Malformations in a Very-Low-Birth-Weight Infant: A Case Report.","authors":"Ryosuke Uchi,&nbsp;Mayu Koto,&nbsp;Atsushi Nakao,&nbsp;Miku Hosokawa,&nbsp;Toshiko Ukawa,&nbsp;Chisa Tsurisawa,&nbsp;Yoshiya Hisaeda,&nbsp;Shusuke Amagata","doi":"10.1055/a-2070-8590","DOIUrl":"https://doi.org/10.1055/a-2070-8590","url":null,"abstract":"Abstract Congenital maxillomandibular synechia is a rare malformation that is characterized by a fusion of the maxilla and mandible. The fusion is fibrous or bony and prevents mouth opening, which causes difficulties in feeding and occasionally in breathing. Although extremely rare, neonatologists must understand the disease because it can be fatal and require emergency treatment after birth. We report the case of a very-low-birth-weight (VLBW) infant with congenital maxillomandibular synechia and other malformations, including cleft palate, syndactyly, and cryptorchidism. The patient presented with extremely limited mouth opening, and endotracheal intubation seemed impossible; fortunately, the patient did not have respiratory distress syndrome. The patient underwent surgical release of the fibrous bands on days 10 and 17, and good mouth opening was achieved. The patient was able to consume breast milk orally and was discharged home at a corrected gestational age of 1 month without recurrence of difficulty in mouth opening or any sequelae. This is the first reported case of a VLBW infant with congenital maxillomandibular synechia who required more complicated management of feeding, surgical intervention, and anesthesia.","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"13 2","pages":"e35-e39"},"PeriodicalIF":0.9,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ab/9c/10-1055-a-2070-8590.PMC10198758.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9509111","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Therapeutic Hypothermia Treatment for an Infant with Hypoxic-Ischemic Encephalopathy and Gastroschisis: A Case Report.","authors":"Nicole Flores-Fenlon, Grant Shafer, Saeed Awan, Irfan Ahmad","doi":"10.1055/a-2028-7890","DOIUrl":"10.1055/a-2028-7890","url":null,"abstract":"<p><p>Gastroschisis is a congenital, typically isolated, full-thickness abdominal wall defect in which the abdominal contents, usually only the small intestine, remain outside the abdominal cavity. It is commonly detected on fetal ultrasonography, and has generally excellent survival and outcomes, though these can be decreased in cases of complicated gastroschisis. We present the case of a female infant with a prenatal diagnosis of gastroschisis who required a prolonged and complex resuscitation after delivery. In addition to her gastroschisis, she presented with a history and physical examination consistent with severe hypoxic-ischemic encephalopathy and was treated with therapeutic hypothermia (TH) without further compromise to her bowel. In addition, careful consideration of neuroprotection, fluid status, bowel viability, and hemodynamics were undertaken in her care. She was discharged home on full enteral feeds, with only mild language and gross motor delays at 6 months of age. To our knowledge, there are no reports in the literature of the use of TH in the setting of unrepaired simple gastroschisis.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"13 1","pages":"e17-e20"},"PeriodicalIF":0.8,"publicationDate":"2023-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/02/50/10-1055-a-2028-7890.PMC10017260.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9152443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Complete Resolution of Nonimmune Hydrops Fetalis Secondary to Maternal Syphilis Infection.","authors":"Andreea Dinicu,&nbsp;Patrick Penalosa,&nbsp;Brian A Crosland,&nbsp;Jonathan Steller","doi":"10.1055/a-2028-7727","DOIUrl":"https://doi.org/10.1055/a-2028-7727","url":null,"abstract":"<p><p>Maternal syphilis infection is a common infectious cause of nonimmune hydrops fetalis. Generally, hydrops fetalis is equated with poor prognoses in affected pregnancies. A 38-year-old G5P2114 presented at 28 ^5/7 weeks' gestation with newly diagnosed primary syphilis infection, sonographic findings of hydrops fetalis, and elevated middle cerebral artery Dopplers concerning for fetal anemia. Following treatment with intramuscular penicillin, the symptoms of hydrops fetalis were resolved and our patient delivered a healthy male neonate with no signs of congenital syphilis at the time of delivery. Routine and early testing for syphilis is an important component of prenatal care. Though not previously documented, the secondary findings of suspected fetal syphilis may be able to completely resolve in utero with penicillin treatment.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"13 1","pages":"e21-e24"},"PeriodicalIF":0.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5b/82/10-1055-a-2028-7727.PMC10019998.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9152451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Misdiagnosis of Total Parental Nutrition-Related Riboflavin Deficiency: Three Case Reports of Diagnostic Error.","authors":"Grant J Shafer,&nbsp;Jose E Abdenur,&nbsp;Vijay Dhar,&nbsp;Michel Mikhael","doi":"10.1055/a-2032-9737","DOIUrl":"https://doi.org/10.1055/a-2032-9737","url":null,"abstract":"Abstract Total parental nutrition (TPN) is a critical component of neonatal intensive care. Supply shortages leading to deficiencies in TPN constituents can have devastating consequences for critically ill patients in the neonatal intensive care unit (NICU), who may be initially misdiagnosed as potential inborn errors of metabolism. Here, we present three cases of patients with prolonged TPN dependence due to intra-abdominal pathology who presented with signs and symptoms concerning for metabolic disorders and who were ultimately determined to be a result of vitamin deficiencies in the TPN after unnecessary testing and interventions had occurred. These diagnostic errors highlight the need for clinicians to maintain a high index of suspicion for nutritional deficiencies when treating patients in the NICU with potential metabolic disorders during times when TPN constituents are not available, as well as advocating to ensure that adequate supplies are maintained for this vulnerable population.","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"13 1","pages":"e11-e16"},"PeriodicalIF":0.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c1/2e/10-1055-a-2032-9737.PMC10010894.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9491473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}