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A Neonate with FNAIT Supported by Placental Chronic Histiocytic Intervillositis and Confounded by Maternal Preeclampsia: A Case Report. 新生儿FNAIT伴胎盘慢性组织细胞间质炎并伴母体子痫前期:1例报告。
IF 0.6
AJP Reports Pub Date : 2025-10-01 eCollection Date: 2025-07-01 DOI: 10.1055/a-2703-4068
Hannah White, Amelia Sybenga
{"title":"A Neonate with FNAIT Supported by Placental Chronic Histiocytic Intervillositis and Confounded by Maternal Preeclampsia: A Case Report.","authors":"Hannah White, Amelia Sybenga","doi":"10.1055/a-2703-4068","DOIUrl":"10.1055/a-2703-4068","url":null,"abstract":"<p><strong>Introduction: </strong>Fetal and neonatal alloimmune thrombocytopenia (FNAIT) occurs in the setting of maternal anti-human platelet antigen (anti-HPA) antibodies against paternally derived fetal platelet antigens. Recent studies have also demonstrated an association between chronic placental inflammation and FNAIT, specifically low-grade chronic histiocytic intervillositis (CHI). We present a neonate with profound thrombocytopenia after delivery with co-occurring CHI, whose platelet counts recovered rapidly with platelet transfusions, born to a primigravida mother with late-onset preeclampsia.</p><p><strong>Case report: </strong>A male neonate was born at 40 weeks to a mother who had no known history of pregnancies, miscarriages, or transfusions. The mother developed severe preeclampsia during the induction of labor. Shortly after delivery, a physical exam of the infant showed inappropriate bruising on the heels of both feet, scattered petechiae on the hard palate, a hematoma on the left thigh after a vitamin K shot, and a bruise on the upper left abdomen. His platelet count was found to be 7,000. Platelet count rose to 94K by day 3 of life following transfusions. Placental pathology confirmed CHI. Maternal testing revealed anti-HPA-1 antibodies supporting FNAIT.</p><p><strong>Conclusion: </strong>This case highlights a potential relationship between maternal alloimmune response and preeclampsia. It also highlights the importance of considering FNAIT as a diagnosis in a neonate presenting with thrombocytopenia regardless of maternal preeclampsia, and the importance of submitting the placenta for a pathology exam.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"15 3","pages":"e163-e165"},"PeriodicalIF":0.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12488233/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211322","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}
引用次数: 0
Corrigendum: Fetal Cardiac Collapse Diagnosed By Umbilical Venous Flow Volume After Thoraco-Amniotic Shunting for Severe Pleural Effusion. 更正:严重胸腔积液胸-羊膜分流术后脐静脉流量诊断胎儿心衰竭。
IF 0.6
AJP Reports Pub Date : 2025-09-26 eCollection Date: 2025-07-01 DOI: 10.1055/a-2706-6895
Yuichiro Takahashi, Shigenori Iwagaki, Kazuhiko Asai, Masako Matsui, Ryuichi Shimaoka, Hitomi Ono, Saki Inuzuka
{"title":"Corrigendum: Fetal Cardiac Collapse Diagnosed By Umbilical Venous Flow Volume After Thoraco-Amniotic Shunting for Severe Pleural Effusion.","authors":"Yuichiro Takahashi, Shigenori Iwagaki, Kazuhiko Asai, Masako Matsui, Ryuichi Shimaoka, Hitomi Ono, Saki Inuzuka","doi":"10.1055/a-2706-6895","DOIUrl":"https://doi.org/10.1055/a-2706-6895","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1055/a-2697-2212.].</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"15 3","pages":"e162"},"PeriodicalIF":0.6,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12473515/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145184546","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}
引用次数: 0
Corrigendum: Noninvasive Maternal-Fetal Hemodynamic Monitoring as A Predictor of Severe Preeclampsia in Low-Resource Settings: A Case Report. 勘误:无创母胎血流动力学监测作为低资源环境中严重先兆子痫的预测因子:一份病例报告。
IF 0.6
AJP Reports Pub Date : 2025-09-18 eCollection Date: 2025-07-01 DOI: 10.1055/a-2698-8526
Lilian Toledo-Jaldin, Richard Gomez, Litzi Lazo-Vega, Alison Larrea, Adolfo Vásquez, Wilson Ormachea-Orellana, Valquiria Miranda-Garrido, Colleen G Julian
{"title":"Corrigendum: Noninvasive Maternal-Fetal Hemodynamic Monitoring as A Predictor of Severe Preeclampsia in Low-Resource Settings: A Case Report.","authors":"Lilian Toledo-Jaldin, Richard Gomez, Litzi Lazo-Vega, Alison Larrea, Adolfo Vásquez, Wilson Ormachea-Orellana, Valquiria Miranda-Garrido, Colleen G Julian","doi":"10.1055/a-2698-8526","DOIUrl":"https://doi.org/10.1055/a-2698-8526","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1055/a-2689-2550.].</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"15 3","pages":"e154"},"PeriodicalIF":0.6,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12445976/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145111918","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}
引用次数: 0
Fetal Cardiac Collapse Diagnosed By Umbilical Venous Flow Volume After Thoraco-Amniotic Shunting for Severe Pleural Effusion. 严重胸腔积液胸-羊膜分流术后脐静脉流量诊断胎儿心衰竭。
IF 0.6
AJP Reports Pub Date : 2025-09-16 eCollection Date: 2025-07-01 DOI: 10.1055/a-2697-2212
Yuichiro Takahashi, Shigenori Iwagaki, Kazuhiko Asai, Masako Matsui, Ryuichi Shimaoka, Hitomi Ono, Saki Inuzuka
{"title":"Fetal Cardiac Collapse Diagnosed By Umbilical Venous Flow Volume After Thoraco-Amniotic Shunting for Severe Pleural Effusion.","authors":"Yuichiro Takahashi, Shigenori Iwagaki, Kazuhiko Asai, Masako Matsui, Ryuichi Shimaoka, Hitomi Ono, Saki Inuzuka","doi":"10.1055/a-2697-2212","DOIUrl":"10.1055/a-2697-2212","url":null,"abstract":"<p><strong>Objective: </strong>Although thoraco-amniotic shunting (TAS) for severe pleural effusion is an effective fetal treatment, there are some cases in which it deteriorates, showing circulatory collapse. To evaluate the usefulness of umbilical venous blood flow volume (UVFV) for predicting deterioration, we analyzed the fetal low UVFV situation.</p><p><strong>Methods: </strong>In 22 cases of fetal severe pleural effusion, we measured UVFV/fetal estimated birth weight (mL/minute/kg) prospectively before and after TAS by ultrasonography. We defined low UVFV/kg as < 50 mL/minute/kg (2.5 percentile) and compared subgroups based on their UVFV value and analyzed the outcome after birth.</p><p><strong>Results: </strong>Total survival rate was 59% at 6 months. Seven cases in the low group before delivery (UVFV/kg 19.5) showed poor prognoses, such as fetal/neonatal death and longer neonatal intensive care unit management (100% vs. the normal UVFV group 40%, <i>p</i>  = 0.017). The low group also showed umbilical artery absent end-diastolic velocity (71%); edema resolved in 50%, suggesting hypo inflow from the placenta and fetal hypocardiac output status, revealing fetal cardiac collapse.</p><p><strong>Conclusion: </strong>UVFV analyses would be a new marker of fetal management of severe pleural effusion, suggesting low UVFV after TAS seems to be hypovolemic cardiac collapse and shows poor prognosis, and we had better consider immediate delivery to prevent death even after TAS.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"15 3","pages":"155-e161"},"PeriodicalIF":0.6,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12440646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079526","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}
引用次数: 0
Alloimmunization in Pregnancy: Patient-reported Quality of Care, Mental Health Effects, and Impact Upon Daily Life. 妊娠期同种异体免疫:患者报告的护理质量、心理健康影响和对日常生活的影响。
IF 0.6
AJP Reports Pub Date : 2025-09-08 eCollection Date: 2025-07-01 DOI: 10.1055/a-2690-9547
Molly R Sherwood, Bethany M Weathersby, Marion E Granger, Kathryn A Shanahan, Kara B Markham
{"title":"Alloimmunization in Pregnancy: Patient-reported Quality of Care, Mental Health Effects, and Impact Upon Daily Life.","authors":"Molly R Sherwood, Bethany M Weathersby, Marion E Granger, Kathryn A Shanahan, Kara B Markham","doi":"10.1055/a-2690-9547","DOIUrl":"10.1055/a-2690-9547","url":null,"abstract":"<p><strong>Objective: </strong>The purpose of this study was to investigate mental health and impacts upon daily life in patients with a history of pregnancy alloimmunization, and secondarily to examine the relationship between disease severity and quality of care on these outcomes.</p><p><strong>Study design: </strong>This was a survey administered between November 2022 and February 2023 to U.S. adults with a history of red cell alloimmunization in pregnancy. Mental health outcomes, quality of care, and daily life impacts were reported.</p><p><strong>Results: </strong>The survey was completed by 127 alloimmunized adults. Anxiety (90.6%), guilt (74.8%), self-doubt (68.0%), isolation (71.4%), depression (68.3%), and symptoms of posttraumatic stress disorder (PTSD) (61.3%) were frequently reported. Mental health support was offered in 24.4%. Respondents reporting a high quality of care in their alloimmunized pregnancies (rating of 8/10 or higher) were significantly less likely than those who perceived receiving lower-quality care to report feelings of guilt ( <i>p</i>  = 0.0006), self-doubt ( <i>p</i>  = 0.04), depression ( <i>p</i>  = 0.03), and symptoms of PTSD ( <i>p</i>  = 0.001).</p><p><strong>Conclusion: </strong>Despite the pervasive patient burden, mental health support was infrequently offered, and patients reported low satisfaction with continuity of care and their providers' knowledge of alloimmunization. Clinicians interacting with alloimmunized patients must employ a comprehensive patient-centered approach to address the significant disease burden.</p><p><strong>Key points: </strong>The impact of alloimmunization in pregnancy on patients' mental health and daily living has not been evaluated.Females with a history of alloimmunization in pregnancy reported widespread anxiety (115/127; 90.6%), guilt (95/127; 74.8%), self-doubt (85/127; 68.0%), isolation (90/127; 71.4%), depression (86/127; 68.3%), and symptoms of PTSD (76/127; 61.3%); mental health support was offered in 24.4% of the sample (31/127). Respondents reporting a high quality of care (rating of 8/10 or higher) were significantly less likely to report feelings of guilt ( <i>p</i>  = 0.0006), self-doubt ( <i>p</i>  = 0.04), depression ( <i>p</i>  = 0.03), and symptoms of PTSD ( <i>p</i>  = 0.001). This study highlights a need to utilize patient-centered comprehensive care models to support this rare high-risk population. Bolstered clinician knowledge and referral to peer support networks, mental health counselors, and social workers may prove highly beneficial to this patient population.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"15 3","pages":"e146-e153"},"PeriodicalIF":0.6,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12417028/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145028702","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}
引用次数: 0
Noninvasive Maternal-Fetal Hemodynamic Monitoring as A Predictor of Severe Preeclampsia in Low-Resource Settings: A Case Report. 无创母胎血流动力学监测作为低资源环境中严重子痫前期的预测因子:一个病例报告。
IF 0.6
AJP Reports Pub Date : 2025-09-05 eCollection Date: 2025-07-01 DOI: 10.1055/a-2689-2550
Lilian Toledo-Jaldin, Richard Gomez, Litzi Lazo-Vega, Alison Larrea, Adolfo Vásquez, Wilson Ormachea-Orellana, Valquiria Miranda-Girrado, Colleen G Julian
{"title":"Noninvasive Maternal-Fetal Hemodynamic Monitoring as A Predictor of Severe Preeclampsia in Low-Resource Settings: A Case Report.","authors":"Lilian Toledo-Jaldin, Richard Gomez, Litzi Lazo-Vega, Alison Larrea, Adolfo Vásquez, Wilson Ormachea-Orellana, Valquiria Miranda-Girrado, Colleen G Julian","doi":"10.1055/a-2689-2550","DOIUrl":"10.1055/a-2689-2550","url":null,"abstract":"<p><p>Preeclampsia is a multiorgan vascular disease complicating approximately 8.5 million pregnancies worldwide annually and is a leading cause of maternal and neonatal mortality. The impact is especially severe in Latin America, where maternal deaths attributable to preeclampsia are 2.5 times higher than in any other region. Bolivia is particularly affected due to economic and environmental challenges, including high altitude, which increases the risk of fetal growth restriction and hypertensive disorders of pregnancy. Early and accessible diagnostic tools are required to maximize patient care and improve reproductive outcomes in limited-resource settings. This report details a case from Bolivia of rapid-onset severe preeclampsia with liver rupture in the third trimester; the patient required multiple surgical interventions for recurrent liver bleeding and extended hospitalization in the intensive care unit (ICU). She delivered a preterm, growth-restricted infant with signs of acute hypoxia by emergency cesarean section. Notably, 2 weeks before ICU admission, abnormal uterine artery and maternal hemodynamic measurements were detected, without other signs of preeclampsia. The patient had previously been healthy and was considered low risk. Both mother and newborn survived. This case underscores the value of combining uterine artery Doppler with maternal hemodynamics to identify high-risk pregnancies early and prevent life-threatening complications.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"15 3","pages":"e142-e145"},"PeriodicalIF":0.6,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12413273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145013661","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}
引用次数: 0
ABCC8 Mutation Causing Permanent Neonatal Diabetes Mellitus in Early Infancy: A Case Report. ABCC8突变致婴儿期永久性新生儿糖尿病1例
IF 0.6
AJP Reports Pub Date : 2025-08-12 eCollection Date: 2025-07-01 DOI: 10.1055/a-2667-6711
Leul M Manyazewal, Mikiyas G Teferi, Helina K Teklehaimanot, Michael A Negussie, Leleul M Demeke, Absira B Abate
{"title":"ABCC8 Mutation Causing Permanent Neonatal Diabetes Mellitus in Early Infancy: A Case Report.","authors":"Leul M Manyazewal, Mikiyas G Teferi, Helina K Teklehaimanot, Michael A Negussie, Leleul M Demeke, Absira B Abate","doi":"10.1055/a-2667-6711","DOIUrl":"10.1055/a-2667-6711","url":null,"abstract":"<p><strong>Introduction: </strong>Neonatal diabetes mellitus (NDM) is a rare monogenic form of diabetes presenting within the first 6 months of life. It can be transient or permanent; early diagnosis is essential to improve outcomes.</p><p><strong>Case presentation: </strong>A 45-day-old male infant presented with fever, dehydration, and marked hyperglycemia. Initially misdiagnosed as meningitis, further evaluation revealed diabetic ketoacidosis, confirmed by elevated blood glucose and +4 urine ketones. He was stabilized with IV fluids and insulin, then transitioned to subcutaneous insulin. Persistent hyperglycemia and patient's age raised suspicion for NDM, warranting genetic testing, which identified a heterozygous pathogenic ABCC8 missense variant. Oral sulfonylurea was initiated using a locally compounded suspension due to limited resources. Insulin was successfully tapered, and euglycemia was achieved on sulfonylurea monotherapy.</p><p><strong>Discussion: </strong>Highlighted here is the importance of genetic testing in suspected NDM; it directly guides management. Shifting from insulin to oral agents improves glycemic control and long-term prognosis. Managing NDM in low-resource settings requires adaptive, multidisciplinary approaches. Ideally, patients should be followed into adolescence, focusing on neurodevelopment, as some variants may lead to neurological complications.</p><p><strong>Conclusion: </strong>Recognizing NDM in infants with unexplained hyperglycemia is important for timely, targeted treatment. Individualized care is possible in constrained settings, offering improved overall outcome.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"15 3","pages":"e124-e128"},"PeriodicalIF":0.6,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12343059/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144833732","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}
引用次数: 0
Preconception Care: Assessing Knowledge, Attitudes, and Practices among Physicians at a Tertiary Hospital in Ethiopia. 孕前护理:评估埃塞俄比亚三级医院医生的知识、态度和做法。
IF 0.6
AJP Reports Pub Date : 2025-08-12 eCollection Date: 2025-07-01 DOI: 10.1055/a-2667-6662
Habtamu Dagnew Demsew, Atirsaw Ebabey, Winta Tsehaye, Nigat Amsalu Addis, Adane Nigusie, Nurhussien Riskey Arefayne, Demelash Gedefaye Anteneh, Belete Muluadam Admassie
{"title":"Preconception Care: Assessing Knowledge, Attitudes, and Practices among Physicians at a Tertiary Hospital in Ethiopia.","authors":"Habtamu Dagnew Demsew, Atirsaw Ebabey, Winta Tsehaye, Nigat Amsalu Addis, Adane Nigusie, Nurhussien Riskey Arefayne, Demelash Gedefaye Anteneh, Belete Muluadam Admassie","doi":"10.1055/a-2667-6662","DOIUrl":"10.1055/a-2667-6662","url":null,"abstract":"<p><strong>Background: </strong>Preconception care (PCC) involves interventions before conception to prevent adverse pregnancy outcomes, yet it remains underutilized in many regions. Its availability influenced by both women's awareness and HCPs' expertise. This study aimed to assess physician's knowledge, attitudes, and practices regarding PCC.</p><p><strong>Objective: </strong>To assess physicians knowledge, attitudes, and practices related to PCC and associated factors.</p><p><strong>Methods: </strong>A cross-sectional study was conducted from March 20 to May 30, 2023, on 251 physicians. Data were collected using a pretested, semi-structured questionnaire and analyzed using Stata version 14. Bivariate and multivariable logistic regression were used to identify factors associated with PCC knowledge, attitudes, and practices.</p><p><strong>Results: </strong>From 251 physicians, 133 (52.99%) had strong PCC practices, 180 (71.71%) had good knowledge, and 143 (56.97%) demonstrated positive attitudes. Significant factors influencing knowledge included working department (adjusted odds ratio [AOR] = 3.02) and reading PCC guidelines (AOR = 1.82). Strong PCC practices were linked to working department (AOR = 2.74), reading about PCC (AOR = 2.86), and perceptions of who should provide PCC (AOR = 2.21).</p><p><strong>Conclusion and recommendation: </strong>Physicians' expertise in PCC is enhanced by reading guidelines and working in obstetrics and gynecology. Regular review of PCC resources is recommended to improve knowledge and practices.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"15 3","pages":"e129-e141"},"PeriodicalIF":0.6,"publicationDate":"2025-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12343058/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144833733","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}
引用次数: 0
Longitudinal 12-Month Follow-Up of a Male Infant with CYP21A2 Compound Heterozygous Genotype in China: A Case Report. 中国1例CYP21A2复合杂合基因型男婴12个月的纵向随访
IF 0.8
AJP Reports Pub Date : 2025-07-18 eCollection Date: 2025-07-01 DOI: 10.1055/a-2647-4369
Yi Yin, Xinyue Huang, Yun Shi, Cheng Huang, Jian Yu, Qingsong Liu
{"title":"Longitudinal 12-Month Follow-Up of a Male Infant with <i>CYP21A2</i> Compound Heterozygous Genotype in China: A Case Report.","authors":"Yi Yin, Xinyue Huang, Yun Shi, Cheng Huang, Jian Yu, Qingsong Liu","doi":"10.1055/a-2647-4369","DOIUrl":"10.1055/a-2647-4369","url":null,"abstract":"<p><strong>Background: </strong>Congenital adrenal hyperplasia (CAH), predominantly caused by 21-hydroxylase deficiency (21-OHD), arises from mutations in <i>CYP21A2</i> . This frequently occurs via gene conversion events between <i>CYP21A2</i> and its pseudogene, leading to impaired 21-hydroxylase activity and subsequent CAH manifestations.</p><p><strong>Case description: </strong>We encountered a case of classic CAH, characterized by electrolyte imbalances (hyponatremia: 125.10 mmol/L; hyperkalemia: 7.06 mmol/L), hyperpigmentation, and markedly elevated endocrine marker levels (17-hydroxyprogesterone: 319.91 nmol/L; adrenocorticotropic hormone: 611.00 pg/mL) in a male neonate. Through genetic diagnostics, we identified a maternal-derived deletion of <i>CYP21A2</i> exons 1-7 combined with paternal-originated compound heterozygous mutations (c.293-13A/C>G in intron 2 and c.332_339 deletion in exon 3). Implementation of early genetic diagnosis revealed 21-OHD, and immediate therapeutic intervention was initiated within 11 days after the birth of the patient. Long-term treatment, including oral hydrocortisone, fludrocortisone, and 0.9% sodium chloride, provided effective clinical control and management, as determined by longitudinal follow-up monitoring of serum electrolyte profiles, endocrine function, and physical development.</p><p><strong>Conclusion: </strong>This case provided critical insights into the genotype-phenotype correlations of classic 21-OHD. Our findings will contribute to precision medicine for managing this rare endocrine disorder during critical infancy periods, and emphasize the need for comprehensive genetic diagnostics and educational values for neonatal 21-OHD care.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"15 3","pages":"e116-e123"},"PeriodicalIF":0.8,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12274093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144673713","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}
引用次数: 0
Assessing the Significance of Hyperthermia in Newborns Undergoing Phototherapy for Hyperbilirubinemia. 评估新生儿接受高胆红素血症光疗时热疗的意义。
IF 0.8
AJP Reports Pub Date : 2025-07-11 eCollection Date: 2025-07-01 DOI: 10.1055/a-2642-7488
Krishna Trivedi, Janet D-Williams, Rohan Rao, Allison Rometo, Benjamin Miller
{"title":"Assessing the Significance of Hyperthermia in Newborns Undergoing Phototherapy for Hyperbilirubinemia.","authors":"Krishna Trivedi, Janet D-Williams, Rohan Rao, Allison Rometo, Benjamin Miller","doi":"10.1055/a-2642-7488","DOIUrl":"10.1055/a-2642-7488","url":null,"abstract":"<p><strong>Objective: </strong>About 2% of full-term neonates are evaluated for fever, with serious bacterial infections (SBIs) identified in roughly 10% of cases. The 2021 American Academy of Pediatrics guideline standardizes febrile neonate evaluation, but factors like phototherapy for hyperbilirubinemia can complicate decisions. Phototherapy-associated hyperthermia raises concern about distinguishing environmental causes from true infection. This study assessed the prevalence of hyperthermia in neonates receiving phototherapy and its association with SBI.</p><p><strong>Study design: </strong>We performed a retrospective chart review of neonates admitted for phototherapy at a quaternary pediatric hospital (2019-2022). Using International Classification of Diseases codes, we identified patients with hyperthermia (≥38°C) and reviewed whether they underwent SBI evaluation and follow-up within 2 weeks.</p><p><strong>Results: </strong>Among 639 neonates, 9 (1.4%) developed hyperthermia. Two (22%) were diagnosed with an SBI; one had a negative SBI workup, and six were not further evaluated. None of the seven without SBI returned for care. The 1.4% hyperthermia rate is not higher than the general neonatal fever prevalence (2%).</p><p><strong>Conclusion: </strong>Hyperthermia during phototherapy is uncommon, but the 22% SBI rate in febrile neonates is noteworthy. Elevated temperatures in this context should not be presumed to be environmental. Clinicians should maintain vigilance and consider full SBI evaluations.</p><p><strong>Key points: </strong>Consider SBIs in febrile neonates on phototherapy; do not attribute fever to environmental factors.Phototherapy rarely causes fever; while it warms infants, it does not raise fever risk.Standardized approaches reduce variability in fever care.</p>","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"15 3","pages":"e113-e115"},"PeriodicalIF":0.8,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254027/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144625214","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}
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