Journal of neonatal-perinatal medicine最新文献_第4页

Temporal trends in heart rate characteristic index preceding necrotizing enterocolitis in preterm infants. 早产儿坏死性小肠结肠炎前心率特征指数的时间趋势。

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Journal of neonatal-perinatal medicine Pub Date : 2026-09-01 Epub Date: 2026-02-11 DOI: 10.1177/19345798261424720

Haley J McCalpin, William King, Alistair S Mukondiwa, Lacie Fallin, Peter J Porcelli, Parvesh M Garg

{"title":"Temporal trends in heart rate characteristic index preceding necrotizing enterocolitis in preterm infants.","authors":"Haley J McCalpin, William King, Alistair S Mukondiwa, Lacie Fallin, Peter J Porcelli, Parvesh M Garg","doi":"10.1177/19345798261424720","DOIUrl":"10.1177/19345798261424720","url":null,"abstract":"ObjectiveTo evaluate temporal trends in heart rate variability as defined by the Heart Rate Characteristic index (HRCi) preceding necrotizing enterocolitis (NEC) in preterm infants.Study DesignRetrospective cohort study of neonates with NEC (Bell Stage II/III) at a tertiary NICU from 2020 to 2024. Continuous HRCi data were extracted for 15 days before and 4 days after NEC diagnosis. HRCi trajectories were analyzed using generalized additive models, Wilcoxon signed-rank tests, and linear regression. Logistic regression models were fit to daily HRCi with NEC diagnosis day (Day 0) as the binary outcome, adjusting for gestational age, small for gestational age (SGA) status, and birth weight Z-scores. Model discrimination was assessed using receiver operating characteristic curves and area under the curve (AUC).ResultsAmong 51 infants with NEC, median birth weight was 900 g and gestational age 27.7 weeks. HRCi rose progressively 2 weeks before onset of NEC, with a significant increase 3 days before diagnosis (median difference 0.31; p = 0.031). Logistic regression showed HRCi remained independently associated with NEC diagnosis day (OR = 1.28; 95% CI: 1.12-1.45; p < 0.001), while gestational age and birth weight Z-score were not. Within-patient AUCs were modest (0.65-0.66); exploratory comparison to the broader NICU population yielded higher discrimination (AUC = 0.84).ConclusionRising HRCi preceded NEC diagnosis, with significant elevation 3 days before onset. HRCi demonstrated independent temporal association with NEC, though modest discrimination reflects the exploratory design. Prospective validation with matched controls and confounder adjustment is required to establish clinical utility.","PeriodicalId":16537,"journal":{"name":"Journal of neonatal-perinatal medicine","volume":" ","pages":"473-483"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12929065/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146165516","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

Congenital double lower lip in a newborn with feeding difficulties. 新生儿先天性双下唇，喂养困难。

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Journal of neonatal-perinatal medicine Pub Date : 2026-09-01 Epub Date: 2026-02-06 DOI: 10.1177/19345798261424790

Irene Fernández-Bueno, Mireya Fernández-Pérez, Irene Saura-Pérez, Sara Guzmán-Quirós, Teresa Pérez-Oliver, José María Lloreda-García, José Ramón Férnandez-Fructuoso

引用次数: 0

Impact of feeding strategies during red blood cell transfusion on cerebral and splanchnic oxygenation in preterm infants: Randomized pilot study. 红细胞输注过程中喂养策略对早产儿脑和内脏氧合的影响：随机先导研究。

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Journal of neonatal-perinatal medicine Pub Date : 2026-09-01 Epub Date: 2026-03-02 DOI: 10.1177/19345798261431200

Sevgi Aslan Tuncay, Hulya Ozdemir, Abdullah Sarioz, Hulya Selva Bilgen

{"title":"Impact of feeding strategies during red blood cell transfusion on cerebral and splanchnic oxygenation in preterm infants: Randomized pilot study.","authors":"Sevgi Aslan Tuncay, Hulya Ozdemir, Abdullah Sarioz, Hulya Selva Bilgen","doi":"10.1177/19345798261431200","DOIUrl":"10.1177/19345798261431200","url":null,"abstract":"BackgroundRed blood cell (RBC) transfusion in very preterm infants has been linked to transfusion-related necrotizing enterocolitis (TR-NEC), and peri-transfusion feeding practices vary. We examined whether three different feeding strategies affect cerebral and splanchnic oxygenation.MethodsIn this single-center randomized pilot trial, infants <32 weeks' gestation requiring RBC transfusion were allocated to feeds withheld, feeds reduced by 50%, or feeds continued during transfusion. Near-infrared spectroscopy measured cerebral and splanchnic rSO2 from 2 h before transfusion start through 42 h after completion (covering the remainder of the 48-h post-initiation window used to define TR-NEC). FTOE and SCOR were calculated. Prespecified primary endpoints were between-group differences in changes in CrSO2, SrSO2, and corresponding FTOE across pre-specified epochs; secondary endpoints were feeding intolerance and TR-NEC (Bell stage ≥II within 48 h).ResultsForty-five infants were enrolled (14, 14, and 17 per group). Splanchnic rSO2 increased and splanchnic FTOE decreased during and after transfusion; cerebral rSO2 increased after transfusion with decreased cerebral FTOE. No statistically significant differences in, FTOE, or SCOR were detected between feeding groups. TR-NEC occurred in eight infants (2, 1, and 5 per group). In exploratory analyses, infants who developed TR-NEC had lower splanchnic rSO2 and higher splanchnic FTOE before and during transfusion.ConclusionsNo statistically significant differences were demonstrated in cerebral or splanchnic oxygenation among three feeding strategies during RBC transfusion. As a pilot, hypothesis-generating study, these findings should not be interpreted as equivalence between strategies and require confirmation in larger trials.","PeriodicalId":16537,"journal":{"name":"Journal of neonatal-perinatal medicine","volume":" ","pages":"525-533"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147344498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Lamellar body count in gastric aspirates of healthy term newborns: A prospective evaluation. 健康足月新生儿胃吸出物的片层体计数：一项前瞻性评价。

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Journal of neonatal-perinatal medicine Pub Date : 2026-09-01 Epub Date: 2026-02-11 DOI: 10.1177/19345798261424785

Sema Arayici, Gulsum Kadioglu Simsek, Birgul Livaoglu Say, Nurdan Uras, Mehmet Yekta Oncel, Umran Buyukkagnici, Sevilay Karahan

{"title":"Lamellar body count in gastric aspirates of healthy term newborns: A prospective evaluation.","authors":"Sema Arayici, Gulsum Kadioglu Simsek, Birgul Livaoglu Say, Nurdan Uras, Mehmet Yekta Oncel, Umran Buyukkagnici, Sevilay Karahan","doi":"10.1177/19345798261424785","DOIUrl":"10.1177/19345798261424785","url":null,"abstract":"BackgroundLamellar body count serves as a crucial indicator of pulmonary surfactant production, with deficiencies implicated in various pulmonary conditions causing respiratory distress in term infants. This study aimed to assess lamellar body count in gastric aspirates of healthy term newborns using an automated hematology analyzer.MethodsA prospective study was conducted, obtaining gastric aspirates from healthy infants within 30 min of birth, with dithiothreitol utilized as a liquefying agent. Lamellar body count analysis was conducted using the platelet channel of the cell counter.ResultsA total of 262 gastric aspirate samples were analyzed. The median lamellar body count was found to be 441,000/μL (49,000-3,493,000). Gestational age-specific lamellar body count values were described using percentile distributions.ConclusionThis pioneering study presents the first evaluation of lamellar body count in gastric aspirates of healthy term newborns. The findings suggest that lamellar body count measurement in gastric aspirates may provide supportive information on pulmonary surfactant status in term newborns and offer baseline physiological data in healthy term infants, serving as a foundation for future studies evaluating its potential role in the management of respiratory disorders.","PeriodicalId":16537,"journal":{"name":"Journal of neonatal-perinatal medicine","volume":" ","pages":"542-546"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146165562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Need for gastrostomy tube placement for premature infants born at 22- and 23-week gestational age: A single-center experience. 22周和23周胎龄早产儿胃造口管放置的需要：单中心经验。

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Journal of neonatal-perinatal medicine Pub Date : 2026-09-01 Epub Date: 2026-02-11 DOI: 10.1177/19345798261424782

Julia Prakash, Raquel Garcia, Claire Barrette, Yodika Singh, Shenae Samuels, Xiaoqi Sun, Monica S Arroyo

{"title":"Need for gastrostomy tube placement for premature infants born at 22- and 23-week gestational age: A single-center experience.","authors":"Julia Prakash, Raquel Garcia, Claire Barrette, Yodika Singh, Shenae Samuels, Xiaoqi Sun, Monica S Arroyo","doi":"10.1177/19345798261424782","DOIUrl":"10.1177/19345798261424782","url":null,"abstract":"BackgroundPremature neonates are at risk for feeding difficulties, and despite early feeding therapy, some neonates require gastrostomy tube (GT) placement. This study aims to determine rates of GT placement in infants born at 22- and 23-weeks of gestation at our institution and to identify demographic and clinical risk factors associated with this outcome.MethodsInstitutional Review Board approval and de-identified data from January 1, 2018 to December 31, 2021 were analyzed in a REDCap database.ResultsGT was placed for 33 of the 72 neonates (45.8%). GT neonates had lower gestational ages (23.1 vs 23.4 weeks; P = 0.004), birth weights (532.5 vs 596.7 g; P = 0.003), and APGAR scores at 1 min (2 vs 3; P = 0.020) and 5 min (5 vs 7; P = 0.009). They also had a higher incidence of intraventricular hemorrhage (IVH) diagnosed in the first week of life (45.5% vs 30.8%; P = 0.041) than those without a GT.ConclusionDespite feeding therapy, a substantial proportion of 22- and 23-week neonates require alternative feeding methods at NICU discharge. Further research is needed to determine additional risk factors and interventions in this population.","PeriodicalId":16537,"journal":{"name":"Journal of neonatal-perinatal medicine","volume":" ","pages":"495-499"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146165519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Assessing blood carboxyhemoglobin levels as an early predictor of phototherapy in ABO incompatible newborns. 评估血碳氧血红蛋白水平作为ABO不相容新生儿光疗的早期预测因子。

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Journal of neonatal-perinatal medicine Pub Date : 2026-09-01 Epub Date: 2026-02-11 DOI: 10.1177/19345798261424781

Cisem Dilbaz Akyuz, Sema Arayici, Belgin Akcan Paksoy, Basak Akyuz

{"title":"Assessing blood carboxyhemoglobin levels as an early predictor of phototherapy in ABO incompatible newborns.","authors":"Cisem Dilbaz Akyuz, Sema Arayici, Belgin Akcan Paksoy, Basak Akyuz","doi":"10.1177/19345798261424781","DOIUrl":"10.1177/19345798261424781","url":null,"abstract":"BackgroundThis study aimed to evaluate blood carboxyhemoglobin (COHb) levels as an indicator of hemolysis and as an early predictor of phototherapy requirement in newborns with blood type A or B born to mothers with blood type O.MethodsIn this prospective observational study, enrolled infants were divided into two groups: Group 1 comprised newborns with maternal blood type O and infant blood type A or B, while Group 2 consisted of newborns born to mothers without blood type O. Total serum bilirubin and carboxyhemoglobin levels were assessed from cord blood samples at birth and venous blood samples at 24 h of life and compared between groups. None of the infants required intravenous immunoglobulin therapy or blood transfusion.ResultsA total of 100 term infants were included. Mean carboxyhemoglobin levels in cord blood and at 24 h of life were significantly higher in Group 1 compared with Group 2 (0.55 vs 0.48, p = 0.04; 0.69 vs 0.36, p = 0.002, respectively). The onset of phototherapy occurred significantly earlier in Group 1 than in Group 2 (48 vs 90 h, p = 0.01).ConclusionElevated carboxyhemoglobin levels were observed in newborns with ABO incompatibility, and higher levels were associated with an earlier requirement for phototherapy.","PeriodicalId":16537,"journal":{"name":"Journal of neonatal-perinatal medicine","volume":" ","pages":"500-507"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146165477","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Advancing drug development for the prevention of spontaneous preterm birth. 推进预防自发性早产的药物研发。

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Journal of neonatal-perinatal medicine Pub Date : 2026-09-01 Epub Date: 2026-01-12 DOI: 10.1177/19345798261416363

Christina Chang, Cameron Joyce, Mia Williams, An Massaro, Beth Boyer, Catherine Pilgrim-Grayson, Leyla Sahin, Lynne Yao, Janet Maynard, Christine Nguyen

{"title":"Advancing drug development for the prevention of spontaneous preterm birth.","authors":"Christina Chang, Cameron Joyce, Mia Williams, An Massaro, Beth Boyer, Catherine Pilgrim-Grayson, Leyla Sahin, Lynne Yao, Janet Maynard, Christine Nguyen","doi":"10.1177/19345798261416363","DOIUrl":"10.1177/19345798261416363","url":null,"abstract":"In the United States, one in 10 pregnancies results in preterm birth (PTB), making it the leading cause of infant morbidity and mortality. Following the 2023 withdrawal of Makena (hydroxy progesterone caproate) for lack of efficacy, clinicians currently lack FDA-approved options for women at risk of recurrent spontaneous PTB. Researchers and pharmaceutical companies may be hesitant to commit resources to develop therapies for PTB. This report summarizes a Food and Drug Administration-Duke Margolis Institute for Health Policy public workshop held in January 2024 to discuss challenges and opportunities for advancing drug development for the prevention of PTB. Participants-researchers, clinicians, industry representatives, families, and regulators-highlighted challenges that hinder the development of PTB therapies, including the limited understanding of PTB causes, ethical concerns for trials, and lack of consensus on appropriate outcome measures. A few of the emerging recommendations suggest that supporting basic science research to address knowledge gaps, such as elucidating the biological drivers and underlying mechanisms of spontaneous preterm birth (sPTB), as well as improving data quality and evidence and focusing on gestational age-specific clinical outcome endpoints could help move the needle forward in this area. Meeting participants also shared perspectives on research priorities, discussed optimizing study design for dose-finding, and strategized about funding and investments. Key recommendations included pursuing greater regulatory flexibility, innovative trial designs, expanding federal and philanthropic funding incentives to de-risk early-stage development, and strengthening data-sharing and research collaborations to accelerate translation of discoveries into therapies.","PeriodicalId":16537,"journal":{"name":"Journal of neonatal-perinatal medicine","volume":" ","pages":"451-458"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145959605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Association of anemia and necrotizing enterocolitis in neonates: Systematic review and meta-analysis of transfusion thresholds, erythropoietin trials, and observational studies. 新生儿贫血和坏死性小肠结肠炎的关联：输血阈值、促红细胞生成素试验和观察性研究的系统回顾和荟萃分析。

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Journal of neonatal-perinatal medicine Pub Date : 2026-09-01 Epub Date: 2026-01-13 DOI: 10.1177/19345798261416362

Dipen Vyas, Menaka Reddy, Aditya Patel, Caroline Minnick, Jeffrey Shenberger, Parvesh Mohan Garg

{"title":"Association of anemia and necrotizing enterocolitis in neonates: Systematic review and meta-analysis of transfusion thresholds, erythropoietin trials, and observational studies.","authors":"Dipen Vyas, Menaka Reddy, Aditya Patel, Caroline Minnick, Jeffrey Shenberger, Parvesh Mohan Garg","doi":"10.1177/19345798261416362","DOIUrl":"10.1177/19345798261416362","url":null,"abstract":"BackgroundMeta-analyses of observational studies evaluating association between blood transfusion and necrotizing enterocolitis (NEC) have shown mixed results and an independent association between anemia and NEC requires further evaluation.ObjectiveTo investigate the association of NEC with anemia in preterm infants via meta-analysis of (1) randomized controlled trials (RCTs) evaluating transfusion thresholds and recombinant erythropoietin (rEpo)/darbepoetin and (2) case-control studies comparing hematocrit levels between NEC cases and controls.Data sourcesPubMed, Embase, Scopus, and the Cochrane Database were searched in August 2025, and the results were supplemented by other sources.Study selection(1) Transfusion threshold and rEpo RCTs evaluating NEC rates in preterm infants with lower hemoglobin (Hb) levels compared with higher Hb levels. (2) Case-control studies comparing hematocrit levels between NEC cases and controls.Primary outcomeThe incidence of any stage NEC in infants with low versus high Hb group.ResultsRCTs evaluating transfusion threshold (n = 4, 3307 participants) showed no difference in NEC incidence between the low versus high Hb group [OR: 1.14 (CI: 0.89, 1.46), p 0.647]. RCTs evaluating rEPO versus placebo (n = 11, 4173 participants) showed higher incidence of NEC in the low versus high Hb group [OR: 1.43 (CI: 1.13, 1.80), p 0.003]. Meta-analysis of case-control studies (n = 3, 1016 participants) showed association of lower hematocrit levels in NEC cases compared with controls (standardized mean difference -0.28; CI -0.56, -0.002; p 0.048).ConclusionOur analysis suggests an association between NEC and lower hemoglobin levels. Well-designed and adequately powered prospective studies are required to confirm our findings.","PeriodicalId":16537,"journal":{"name":"Journal of neonatal-perinatal medicine","volume":" ","pages":"459-472"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12831413/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145965942","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

Severe congenital toxoplasmosis with isolated central hypothyroidism: A rare case report. 严重先天性弓形虫病合并孤立的中枢性甲状腺功能减退1例罕见报告。

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Journal of neonatal-perinatal medicine Pub Date : 2026-09-01 Epub Date: 2026-02-18 DOI: 10.1177/19345798261424780

K Abi El Aala, A Lalaoui, G Kassal, F Bennaoui, H C Ahmanna, H Jalal, N El Idrissi Slitine, F M R Maoulainine

{"title":"Severe congenital toxoplasmosis with isolated central hypothyroidism: A rare case report.","authors":"K Abi El Aala, A Lalaoui, G Kassal, F Bennaoui, H C Ahmanna, H Jalal, N El Idrissi Slitine, F M R Maoulainine","doi":"10.1177/19345798261424780","DOIUrl":"10.1177/19345798261424780","url":null,"abstract":"Congenital toxoplasmosis results from transplacental transmission of Toxoplasma gondii during maternal primary infection. While the classic triad-hydrocephalus, intracranial calcifications, and chorioretinitis-defines severe forms, hypothalamic-pituitary axis involvement is extremely rare. Endocrine complications, particularly central hypothyroidism, are seldom described in this context. We report a preterm newborn at 35 weeks' gestation, representing the first documented case of isolated central hypothyroidism associated with severe congenital toxoplasmosis. Neuroimaging revealed major triventricular hydrocephalus, multiple cystic formations, and cerebral calcifications consistent with toxoplasmic meningoencephalitis. Ocular examination showed bilateral cataracts, microphthalmia, and retinal detachment. Laboratory studies confirmed congenital toxoplasmosis by positive IgM/IgG serology and cerebrospinal fluid PCR. Endocrine assessment demonstrated central hypothyroidism with low TSH (0.012 mIU/L) and T4 (4.31 pmol/L) levels, while exploration of the other hypothalamic-pituitary axes was normal, suggesting selective thyrotropic axis dysfunction. Treatment included pyrimethamine, sulfadiazine, folinic acid, and levothyroxine replacement. The infant died on day 54 of life from a nosocomial infection.This case highlights an exceptional presentation of congenital toxoplasmosis associated with isolated central hypothyroidism. The findings suggest potential inflammatory or vascular damage to the hypothalamic-pituitary axis. Early recognition and hormone replacement therapy are essential to prevent further neurological impairment. Systematic endocrine evaluation is recommended in neonates with severe central nervous system involvement due to congenital toxoplasmosis.","PeriodicalId":16537,"journal":{"name":"Journal of neonatal-perinatal medicine","volume":" ","pages":"555-561"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146220100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Expanding the diagnostic lens: Whole exome sequencing in a neonate with arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. 扩大诊断范围：全外显子组测序在新生儿关节挛缩-肾功能障碍-胆汁淤积（ARC）综合征。

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Journal of neonatal-perinatal medicine Pub Date : 2026-08-29 DOI: 10.1177/19345798261483255

Gayathri Sreenivasan, Jane Hedrick, Anita Ware, Melanie Leong

{"title":"Expanding the diagnostic lens: Whole exome sequencing in a neonate with arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.","authors":"Gayathri Sreenivasan, Jane Hedrick, Anita Ware, Melanie Leong","doi":"10.1177/19345798261483255","DOIUrl":"https://doi.org/10.1177/19345798261483255","url":null,"abstract":"We report a term neonate who presented with early-onset conjugated hyperbilirubinemia, acholic stools, and imaging findings concerning for biliary atresia, including a contracted gallbladder and triangular cord sign on abdominal ultrasound. However, intraoperative cholangiography demonstrated normal bile flow. Persistently normal gamma-glutamyl transpeptidase (GGT), cholestasis, and renal tubular dysfunction prompted expanded evaluation. Whole-exome sequencing identified a pathogenic VPS33B variant, confirming Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome. Despite supportive management, his condition progressively declined, and he died at approximately 2 years of age following worsening cholestasis, reduced oral intake, and cardiorespiratory arrest at home. In this infant, the absence of arthrogryposis represented an incomplete and atypical phenotype at birth of an already rare condition. This case report and review of the literature expands the recognized clinical spectrum of ARC syndrome and underscores the importance of considering genetic etiologies in neonates with low-normal GGT cholestasis when conventional evaluation is inconclusive. Early integration of genomic testing may improve diagnostic accuracy, inform family counseling, and refine clinical decision-making in neonatal cholestasis.","PeriodicalId":16537,"journal":{"name":"Journal of neonatal-perinatal medicine","volume":" ","pages":"19345798261483255"},"PeriodicalIF":1.0,"publicationDate":"2026-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148850848","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0