AJP Reports最新文献

{"title":"Murine Typhus Mimicking Preeclampsia with Severe Features.","authors":"Ryan Findlay, Alysha Panjwani, Luis Pacheco","doi":"10.1055/a-2977-4190","DOIUrl":"10.1055/a-2977-4190","url":null,"abstract":"<p><p><b>Background</b> Murine typhus, a flea-borne rickettsiosis endemic to southern Texas, can cause headache, thrombocytopenia, and transaminitis that overlap with the criteria for preeclampsia with severe features. <b>Case</b> A 22-year-old gravida 5 with gestational hypertension presented at 32 ^5/7 weeks of gestation with 5 days of fever and headache. Worsening thrombocytopenia, transaminitis, and refractory headache were initially attributed to preeclampsia with severe features, and magnesium sulfate was administered. Persistent fever prompted empiric doxycycline for suspected murine typhus; defervescence occurred within 48 hours, and acute serology supported the diagnosis. She delivered a healthy neonate at 37 weeks. <b>Conclusion</b> In endemic regions, murine typhus should be considered in febrile pregnant patients with preeclampsia-like laboratory findings, and empiric doxycycline should not be delayed for serologic confirmation.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 4","pages":"e200-e202"},"PeriodicalIF":0.7,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13675097/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149214806","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":"Understanding the Lived Experience of Fetal and Neonatal Alloimmune Thrombocytopenia: A Qualitative Study.","authors":"Ellen Elisabeth Johanna de Kreij, Melanie Mesch, Stacy Corke, Maartje Mangelaars, Lisa Shea, Roland Devlieger, R Katie Morris","doi":"10.1055/a-2948-6561","DOIUrl":"10.1055/a-2948-6561","url":null,"abstract":"<p><p><b>Objective</b> Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a rare alloimmune disease of pregnancy. This study aimed to better understand the disease burden of FNAIT and its impact on families through qualitative research. <b>Study Design</b> This exploratory qualitative study involved thematic analysis of semi-structured virtual interviews and group sessions (Cohort 1: October 2021-November 2024; Cohort 2: April-May 2025) with members of the FNAIT Patient Council from the United States, Canada, the United Kingdom, Australia, and the Netherlands, organized by Johnson & Johnson. <b>Results</b> There were 10 participants (9 female, 1 male) in Cohort 1 and 12 female participants in Cohort 2. Cohort 1 themes included the challenging and inconsistent diagnostic path, responsibility for self-education and self-advocacy, and navigation of unclear care pathways. Cohort 2 themes included the challenging diagnostic path, wider impacts on families and family planning, burdensome treatments, mental health, and opportunities to improve overall experiences. <b>Conclusion</b> These qualitative findings demonstrate the weight of the emotional, logistical, and financial burden placed on families affected by FNAIT. Unmet needs include improved antenatal screening and earlier diagnosis, less burdensome treatment, more psychosocial support, and improved awareness of FNAIT among healthcare providers.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 3","pages":"e185-e194"},"PeriodicalIF":0.7,"publicationDate":"2026-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13597138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149023479","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":"Case Analysis of Neonatal Acute Liver Failure Presumably Caused by Gestational Alloimmune Liver Disease.","authors":"Qingying Wang, Jingyi Zhang, Yi Xu, Xia Chen, Fang Huang, Jingjing Wu, Yongchao Jiang, Gaoyan Chen","doi":"10.1055/a-2950-1681","DOIUrl":"10.1055/a-2950-1681","url":null,"abstract":"<p><p>Neonatal acute liver failure is a rare, life-threatening condition. We present a 33 ^6/7 -week-old neonate with severe coagulopathy and hyperbilirubinemia refractory to vitamin K ₁ , plasma, and platelet transfusions. The mother had a history of two previous neonatal deaths, one of whom had similar coagulopathy. Gestational alloimmune liver disease (GALD) was strongly suspected following multidisciplinary review, although a definitive diagnosis could not be confirmed because of negative labial salivary gland iron staining and the decision to decline liver biopsy. Double-volume exchange transfusion on day 15 rapidly improved bilirubin and coagulation parameters, allowing discharge in stable condition. Mild recurrent cholestasis occurred after discharge. This case underscores that refractory coagulopathy and cholestasis unresponsive to conventional therapy, especially in the presence of a relevant family history, should raise suspicion for immune-mediated causes such as GALD. Exchange transfusion may be critical for improving outcomes.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 3","pages":"e179-e183"},"PeriodicalIF":0.7,"publicationDate":"2026-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13597137/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149023457","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":"Letter to Editor: \"Discrepant Results on Two Different Single Gene Non-invasive Prenatal Tests for Cystic Fibrosis: A Case Report\".","authors":"Shahram S Daneshmand","doi":"10.1055/a-2946-0807","DOIUrl":"https://doi.org/10.1055/a-2946-0807","url":null,"abstract":"","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 3","pages":"e184"},"PeriodicalIF":0.7,"publicationDate":"2026-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13588686/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149007838","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":"Lethal Transaldolase Deficiency Mimicking Gestational Alloimmune Liver Disease: Prenatal Sonography and Identification of a Novel <i>TALDO1</i> Variant.","authors":"Tiara M Adeniji, Jason Carmichael, Sanmaan Basraon, James Hole, Bryce A Mendelsohn, Beni A Adeniji","doi":"10.1055/a-2946-5351","DOIUrl":"10.1055/a-2946-5351","url":null,"abstract":"<p><p><b>Objective</b> The objective of this study is to describe the prenatal sonographic and neonatal features of two siblings with lethal transaldolase deficiency and highlight its phenotypic overlap with gestational alloimmune liver disease (GALD). <b>Study Design</b> This is a retrospective review of consecutive pregnancies in a single family, analyzing sequential prenatal ultrasound surveillance, maternal therapeutic interventions, neonatal clinical course, and postmortem trio exome sequencing. <b>Results</b> Both siblings exhibited severe early-onset fetal growth restriction, echogenic bowel, neonatal hemochromatosis, and hypertrophic cardiomyopathy. Because the clinical presentation during the first pregnancy closely mimicked GALD, the second pregnancy was treated empirically with intravenous immunoglobulin (IVIG), which proved entirely ineffective. Subsequent exome sequencing revealed compound heterozygous variants in the <i>TALDO1</i> gene, including a novel pathogenic variant (p.Arg239Cys). These findings demonstrate that the hepatic pathology in transaldolase deficiency is a primary metabolic process rather than an antibody-mediated alloimmune process. <b>Conclusion</b> Transaldolase deficiency should be considered in the differential diagnosis for fetuses presenting with unexplained severe growth restriction accompanied by echogenic bowel or hepatic echogenicities or in neonates with fulminant liver failure, particularly when associated with cardiomyopathy. This case highlights the value of performing prenatal exome sequencing prior to initiating targeted therapies like IVIG. Establishing a definitive genetic diagnosis prevents the utilization of futile, resource-intensive treatments, optimizing patient care and prognostic counseling.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 3","pages":"e195-e199"},"PeriodicalIF":0.7,"publicationDate":"2026-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13588688/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149007865","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":"Understanding Patient Perspectives and Experiences in Severe Hemolytic Disease of the Fetus and Newborn: Insights from Qualitative Interviews.","authors":"Adele Barlassina, Molly Sherwood, Divya Mohan, Marco Boeri, Ellen Janssen, Alexis Krumme, Laura M Bozzi","doi":"10.1055/a-2948-6478","DOIUrl":"10.1055/a-2948-6478","url":null,"abstract":"<p><p><b>Objective</b> Maternal red cell alloimmunization is a rare pregnancy condition that can cause hemolytic disease of the fetus and newborn (HDFN), which can be serious and fatal. As subsequent alloimmunized pregnancies carry HDFN risk, families' future pregnancy decisions may be affected. Findings from qualitative interviews in alloimmunized mothers are presented to understand experiences and perspectives during their previous pregnancy affected by severe HDFN, aiming to inform patient-centered interventions. <b>Study Design</b> This article presents qualitative findings of a broader mixed-methods study published elsewhere. Semi-structured 1:1 interviews were conducted via Microsoft Teams with adults (≥18 years) who experienced a pregnancy within the past 5 years affected by severe HDFN (i.e., intrauterine transfusion, fetal loss after 14 weeks' gestation, or neonatal death within 4 weeks of birth due to HDFN). A patient advocacy group ensured study design's relevance, recruited participants, and helped interpret results. Interviews were audio-recorded, transcribed, and analyzed to identify key themes. <b>Results</b> Of 28 participants, 27 completed interviews. Participants reported a median 2 (range, 1-5) affected HDFN pregnancies and a median 4 (1-11) intrauterine transfusions during their most recent pregnancy affected by severe HDFN. Seven themes were identified: (1) diagnosis communication and information seeking, (2) emotional journey at diagnosis, (3) navigating the treatment regimen, (4) physical/emotional challenges during pregnancy, (5) impacts on social life, (6) experience at delivery, and (7) postdelivery adjustment and reflections. Results indicated that participants felt inadequately informed about their diagnosis, experienced significant emotional distress, along with difficulties managing intense monitoring/treatments. Many described their delivery as traumatic and their postpartum as very stressful, which influenced their decision about additional pregnancies. <b>Conclusion</b> These findings highlight opportunities to strengthen communication and support for pregnant individuals experiencing severe HDFN. Developing comprehensive support models and improving care, guided by patient preferences, could address the needs of affected individuals and families.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 3","pages":"e171-e178"},"PeriodicalIF":0.7,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13557808/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148918184","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":"A Novel Rectal Propranolol Strategy in Neonatal Supraventricular Tachycardia Complicated by Surgical Necrotizing Enterocolitis.","authors":"M Siddharth, Ashishkumar Banpurkar, Abhijit Benare, Anusha Rao, Umesh Vaidya, Komal Bijarniya, Manali Bhuyan, Bhakti Dhamangaonkar","doi":"10.1055/a-2942-1294","DOIUrl":"10.1055/a-2942-1294","url":null,"abstract":"<p><p><b>Objective</b> Surgical necrotizing enterocolitis (NEC, Bell stage 3B) complicating neonatal supraventricular tachycardia (SVT) is exceedingly rare. We describe a novel per-rectal propranolol strategy to maintain antiarrhythmic prophylaxis during mandatory nil per oral (NPO) status imposed by NEC. <b>Study Design</b> This study includes a single case report at a tertiary neonatal unit in Western India. <b>Results</b> A 35-week neonate with antenatal fetal tachyarrhythmia (>300 beats per minute [bpm]) developed postnatal SVT at 6 h of life (280-300 bpm), requiring adenosine cardioversion and oral propranolol. On day of life (DOL) 4, hematochezia, abdominal distension, and portal venous gas indicated Bell stage 3A NEC, mandating NPO status. With enteral routes contraindicated, propranolol was continued per rectum, to our knowledge the first reported neonatal antiarrhythmic use of this route. Deterioration to pneumoperitoneum by DOL 8 necessitated laparotomy with jejuno-jejunal and ileo-caecal resection and anastomosis. No SVT recurred during NPO. The infant was discharged on DOL 25 on oral propranolol. <b>Conclusion</b> This first Indian report of SVT-associated surgical NEC highlights two novelties: Bell stage 3B NEC requiring surgery and per-rectal propranolol as a novel antiarrhythmic bridge during NPO. Clinicians should maintain vigilance for NEC in neonates with SVT regardless of hemodynamic stability, and consider the rectal route for propranolol when NPO.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 3","pages":"e165-e170"},"PeriodicalIF":0.7,"publicationDate":"2026-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13557806/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148918197","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":"Spontaneous Uterine Cornual Rupture in the Second Trimester of Dichorionic-Diamniotic Twin Pregnancy.","authors":"Britney Margheim, Timothy Nguyen, Mathias Wiebe, Melton Zheng, Saurabh Kumar, Roufan Yoa","doi":"10.1055/a-2946-0857","DOIUrl":"10.1055/a-2946-0857","url":null,"abstract":"<p><p><b>Background</b> Uterine rupture is a rare but life-threatening obstetric emergency, usually associated with labor in patients with a prior cesarean delivery. Spontaneous rupture remote from a uterine scar, particularly at the cornua in the second trimester, is exceedingly uncommon. <b>Case</b> We report a 30-year-old gravida 2 para 1 at 25 ^3/7 weeks' gestation with a dichorionic-diamniotic twin pregnancy who presented with abrupt abdominal pain and hemoperitoneum of unclear etiology. Despite reassuring imaging, progressive maternal deterioration and non-reassuring fetal status prompted emergent laparotomy and cesarean delivery. A 3 cm × 3 cm full-thickness left cornual rupture was identified. <b>Conclusion</b> In pregnant patients with unexplained hemoperitoneum, clinical status must override reassuring imaging, and prompt surgical intervention is essential.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 3","pages":"e159-e164"},"PeriodicalIF":0.7,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13553134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148910611","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":"Successful Use of Neurally Adjusted Ventilatory Assist in Managing Refractory Bilateral Pneumatoceles in a Premature Neonate.","authors":"Efren Diaz, Shamaila Gil, Lisa M Scheid","doi":"10.1055/a-2945-0611","DOIUrl":"10.1055/a-2945-0611","url":null,"abstract":"<p><p><b>Background</b> Pneumatoceles are air-filled cystic lesions within the lung parenchyma, often arising from severe pneumonia or mechanical ventilation-induced lung injury, which pose significant risk, particularly in neonates requiring high positive-pressure ventilation. Traditional management includes conservative monitoring, percutaneous drainage, and/or surgical intervention. High-frequency ventilation is frequently employed to minimize barotrauma. <b>Case Summary</b> We present a neonate born at 29 ^0/7 weeks of gestation, weighing 780 g. Post-delivery, the patient developed pneumonia, leading to multiple refractory bilateral pneumatoceles and transfer to our hospital. Initial management included high-frequency jet ventilation and inhaled nitric oxide, with limited improvement over 3 weeks, after which we initiated neurally adjusted ventilatory assist (NAVA), leading to significant clinical improvement. Radiographic imaging showed rapid improvement of the pneumatoceles on NAVA, with complete resolution observed at outpatient follow-up. <b>Discussion</b> This case demonstrates successful management of refractory bilateral pneumatoceles using NAVA. Its patient-driven approach provides synchronized, gentle ventilation, crucial for treating pulmonary air leak syndromes and facilitating natural weaning. NAVA's dynamic adjustments and ability to closely match ventilatory support to the patient's neural respiratory drive using less peak inspiratory pressure offers a promising strategy for managing complex pulmonary conditions, such as pneumatoceles, in neonates.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 3","pages":"e154-e158"},"PeriodicalIF":0.7,"publicationDate":"2026-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13537834/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148878730","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":"Moyamoya Disease in Pregnancy: A Case Series.","authors":"Hannah Elizabeth McCool, Nick Cochran, Kerri Spontarelli Fruit, Bill Atkinson","doi":"10.1055/a-2930-3966","DOIUrl":"https://doi.org/10.1055/a-2930-3966","url":null,"abstract":"<p><p><b>Objective</b> Moyamoya disease is a rare progressive cerebrovascular disorder characterized by stenosis of the intracranial internal carotid arteries and formation of fragile collateral vessels, predisposing patients to ischemic and hemorrhagic stroke. Physiologic changes of pregnancy-including increased blood volume, systemic vasodilation, and augmented cerebral blood flow-may increase cerebrovascular vulnerability and complicate management. <b>Study Design</b> We describe three pregnancies complicated by moyamoya disease managed at a tertiary referral center in West Texas. All patients had undergone prior cerebral revascularization and were followed by neurology before conception. Antithrombotic strategies varied by individual risk factors and included aspirin or low-molecular-weight heparin. Comorbidities included pregestational diabetes with dichorionic diamniotic twins, homozygous factor V Leiden, and Chiari malformation with MTHFR mutation. <b>Results</b> Two patients underwent planned cesarean delivery with favorable maternal and neonatal outcomes following multidisciplinary management. The third developed preeclampsia with severe features at 32 weeks and experienced sudden neurologic deterioration. Despite emergent cesarean delivery, she suffered a fatal intracerebral hemorrhage. <b>Conclusion</b> These cases highlight the spectrum of pregnancy outcomes in patients with moyamoya disease and emphasize the importance of multidisciplinary care, strict blood pressure control, and careful neurologic surveillance.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"16 3","pages":"e148-e151"},"PeriodicalIF":0.7,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13493179/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148787207","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}