AJP Reports最新文献_第5页

Early Challenges: A Case Report of a Premature Baby with Down Syndrome and Uterine Rupture. 早期挑战：唐氏综合症早产儿和子宫破裂的病例报告。

IF 0.8

AJP Reports Pub Date : 2024-09-30 eCollection Date: 2024-07-01 DOI: 10.1055/a-2413-2722

Bilel Jerbi, Hajer Chourou, Rim Ben Aziza, Wafa Belhadj Ammar, Samia Kacem, Radhouane Achour

{"title":"Early Challenges: A Case Report of a Premature Baby with Down Syndrome and Uterine Rupture.","authors":"Bilel Jerbi, Hajer Chourou, Rim Ben Aziza, Wafa Belhadj Ammar, Samia Kacem, Radhouane Achour","doi":"10.1055/a-2413-2722","DOIUrl":"10.1055/a-2413-2722","url":null,"abstract":"Introduction Uterine rupture represents one of the most severe obstetric affections. It is defined as a complete or a partial tearing of the uterine wall. Women with a prior cesarean section are reported to have a higher risk of having this situation. Moreover, maternal death and most of all middle- and long-term adverse consequences remain a great preoccupation. On another scale, neonatal death and ulterior deterioration remain very high, especially in low-income countries. Case Description A 24-year-old woman with a history of previous cesarean section presented at 35 weeks of gestation with pelvic pain without bleeding. Emergency cesarean section revealed a complete uterine rupture at the scar site from the previous cesarean section. Remarkably, the fetus managed to seal the rupture using the right temporal region, forearm, and right leg, avoiding significant complications. The mother had an uncomplicated postoperative course and was discharged after 48 hours of surveillance. Conclusion We present with this case an extraordinary case of a uterine rupture where both mother and child had a good outcome. This rare evolution was reported only one time in literature. For this reason, a history of caesarean delivery might present a huge challenge for obstetricians and neonates.","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"14 3","pages":"e231-e234"},"PeriodicalIF":0.8,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11442015/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142339404","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

A De novo Mutation in the COL1A1 Gene Leading to Severe Osteogenesis Imperfecta: Case Report and Review of the Literature. 导致严重成骨不全症的 COL1A1 基因新突变：病例报告和文献综述。

IF 0.8

AJP Reports Pub Date : 2024-09-12 eCollection Date: 2024-07-01 DOI: 10.1055/a-2388-3190

Yurong Lu, Yijia Tian, Jinxiu Liu, Yifan Wang, Xietong Wang

{"title":"A De novo Mutation in the COL1A1 Gene Leading to Severe Osteogenesis Imperfecta: Case Report and Review of the Literature.","authors":"Yurong Lu, Yijia Tian, Jinxiu Liu, Yifan Wang, Xietong Wang","doi":"10.1055/a-2388-3190","DOIUrl":"https://doi.org/10.1055/a-2388-3190","url":null,"abstract":"Introduction Osteogenesis imperfecta (OI) is the most common monogenic inherited skeletal dysplasia disorder. Mutations in the COL1A1/COL1A2 gene cause ∼85 to 90% of OI. Studies of cases have demonstrated that missense mutations are the primary cause of OI, with poor prognosis. Case Description We report the case of a fetus with skeletal abnormalities and subcutaneous edema. Ultrasound imaging revealed suspected skeletal malformations, including hypoplastic long bones of all four limbs, poorly ossified calvarium, unrevealing nasal bones, and generalized subcutaneous edema. Whole-exome sequencing revealed a heterozygous mutation in COL1A1 (c.2174G > T/p.(G725V), NM_000088.3). According to the American College of Medical Genetics and Genomics guidelines, it was determined to be a pathogenic variant and identified as a de novo variant (PS2 + PP3_strong + PM2_supporting), which has not been reported in the HGMD, gnomAD, ClinVar, or other databases. This variation causes a glycine-to-valine substitution at position 725, located within the Gly-Xaa-Yaa repeat in the helical domain of the collagen molecule. Conclusion The COL1A1 mutation (c.2174G > T/p.(G725V), NM_000088.3) is a novel pathogenic variant of severe OI. Our study expanded the OI COL1A1 gene variation profiles in the Chinese population and provided a theoretical foundation for prenatal diagnosis, genetic counseling, and obstetric management.","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"14 3","pages":"e215-e223"},"PeriodicalIF":0.8,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11392588/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142279016","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

Rare Case of Twin Reversed Arterial Perfusion Acardius Acephalus Subtype Seen in a Community-Based Hospital. 社区医院中出现的罕见双子动脉灌注逆转心绞痛亚型病例

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AJP Reports Pub Date : 2024-09-10 eCollection Date: 2024-07-01 DOI: 10.1055/a-2384-8058

Laura Reguero Cadilla, Carlos Villafuerte Santana, Nicolle Centazzo, Daniel Faustin

引用次数: 0

Predeposit Autologous Blood Donation in Rh(D)-Negative Pregnant Women: A Single-Center Study. Rh(D)阴性孕妇的预置自体血捐献：单中心研究。

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AJP Reports Pub Date : 2024-08-30 eCollection Date: 2024-07-01 DOI: 10.1055/a-2388-3298

Juan Xie, Yu Ling, Xiaoyu Zhou

{"title":"Predeposit Autologous Blood Donation in Rh(D)-Negative Pregnant Women: A Single-Center Study.","authors":"Juan Xie, Yu Ling, Xiaoyu Zhou","doi":"10.1055/a-2388-3298","DOIUrl":"10.1055/a-2388-3298","url":null,"abstract":"Objective The primary purpose of this study was to assess the practicability of predeposit autologous blood donation (PABD) in the practice of Rh(D)-negative pregnant women. Materials and Methods A cohort of 405 Rh(D)-negative pregnant women who had a delivery in the comprehensive tertiary hospital in Nanjing was analyzed retrospectively, over 10 years. Results After PABD, 203 women experienced a slight drop in mean hemoglobin of 5.32 ± 0.5 g/L (PABD-associated anemia was not featured in our study). Thirteen women who received allogeneic blood might benefit from PABD practically. Conclusion PABD is applicable for Rh(D)-negative pregnant women, as it ensures the availability of the patient's blood in the event of perinatal hemorrhage, thus minimizing the need for transfusion from external sources. Despite the autologous blood reinfusion of low proportion, PABD could still serve as an alternative when allogeneic blood resources are scarce. However, one challenge in the future is to identify candidates who may benefit most from PABD. Also, more attention is needed to raise awareness of patient blood management. Recommended strategies include early screening and treatment of anemia, hemostasis promotion, and blood loss reduction. Replacement of allogeneic transfusion with autotransfusion could be referred to where feasible. We believe that PABD still has a promising potential for application in Rh(D)-negative pregnant women.","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"14 3","pages":"e208-e214"},"PeriodicalIF":0.8,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11364468/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142103548","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

A Case of Vein of Galen Aneurysmal Malformation Diagnosed Prenatally in a Monochorionic-Diamniotic Twin Pregnancy. 一例单绒毛膜双羊膜妊娠产前诊断为盖伦静脉动脉瘤畸形的病例

IF 0.8

AJP Reports Pub Date : 2024-08-29 eCollection Date: 2024-07-01 DOI: 10.1055/a-2385-1263

Dana Senderoff Berger, Andre Robinson, Judith Chervenak, Kristen Thomas, Ranjini Srinivasan, Geeta Sharma, Ashley S Roman, Christina A Penfield, Meghana Limaye

引用次数: 0

Congenital Umbilical Cord Hernia: Prenatal and Postnatal Management. 先天性脐带疝：产前和产后管理。

IF 0.8

AJP Reports Pub Date : 2024-08-29 eCollection Date: 2024-07-01 DOI: 10.1055/s-0044-1790207

Stephanie Rodriguez, Daisy Marty, Barbara Folga, Layan Alrahmani

引用次数: 0

Preterm Infant's Heart Rate Variability Near Birth Predicts Autonomic Symptoms at Age 3 to 5 Years. 早产儿出生时的心率变异性可预测其 3-5 岁时的自主神经症状。

IF 0.8

AJP Reports Pub Date : 2024-07-29 eCollection Date: 2024-07-01 DOI: 10.1055/s-0044-1788700

Noa Zohar, Michal Katz-Leurer, Luba Zuk, Hadas Israeli-Mendlovic

{"title":"Preterm Infant's Heart Rate Variability Near Birth Predicts Autonomic Symptoms at Age 3 to 5 Years.","authors":"Noa Zohar, Michal Katz-Leurer, Luba Zuk, Hadas Israeli-Mendlovic","doi":"10.1055/s-0044-1788700","DOIUrl":"10.1055/s-0044-1788700","url":null,"abstract":"Aims To describe the autonomic function of premature infants born between 28 and 32 weeks of gestation, without medical risk factors, at the age of 3 to 5 years and to assess whether it's possible to predict the appearance of autonomic deficits in these children at this age range. Methods This follow-up study included 40 out of 55 premature infants born between weeks 28 and 32 during 2018 to 2020. During 2022 to 2023 parents were asked to report on medical and developmental follow-up and treatment, functional characteristics of the autonomic system, and the age at which walking was achieved. Results Approximately 27% of the participants (11 out of 40) presented autonomic symptoms at 3 to 5 years of age. A predictive relationship was noted between the function of the heart rate control system near birth and the presence of autonomic dysfunctions at ages 3 to 5. Fourteen of 40 children received neurodevelopmental treatments. However, children with autonomic symptoms were not treated for their symptoms. Conclusion These preliminary findings provide valuable insights into the autonomic function of children born premature and the potential predictive relationship between early autonomic measures and later autonomic dysfunctions. It also highlights the need for increased awareness and intervention strategies for addressing autonomic issues in premature infants to support their overall well-being.","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"14 3","pages":"e197-e201"},"PeriodicalIF":0.8,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11286323/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141854504","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

Prenatal Diagnosis of a Right Atrial Appendage Aneurysm: Case Report and Review of the Literature. 右心房阑尾动脉瘤的产前诊断：病例报告和文献综述。

IF 0.9

AJP Reports Pub Date : 2024-06-04 eCollection Date: 2024-04-01 DOI: 10.1055/s-0044-1787066

Jezid Miranda, Dulce María Villalobo, Nikita Alfieri, Brenda Contreras, Gabriel Vergara

{"title":"Prenatal Diagnosis of a Right Atrial Appendage Aneurysm: Case Report and Review of the Literature.","authors":"Jezid Miranda, Dulce María Villalobo, Nikita Alfieri, Brenda Contreras, Gabriel Vergara","doi":"10.1055/s-0044-1787066","DOIUrl":"10.1055/s-0044-1787066","url":null,"abstract":"Introduction Congenital malformations of the right atrium are rare heart defects with only a few cases described prenatally. Early diagnosis of these anomalies is becoming increasingly important for proper follow-up and due to the possibility of serious complications such as supraventricular arrhythmia, thromboembolic events, and sudden death. Objective The atrial appendage aneurysm (AAA) is a dilatation of the atrial appendage. It is considered an extremely rare congenital anomaly. However, this condition is clinically significant because it leads to atrial arrhythmias, recurrent emboli, heart failure, and chest pain. In addition, it is possible to recognize AAA prenatally with fetal echocardiography, even if it rarely happens. However, few fetal AAA cases have been reported in the literature. Study Design We report a case of a fetal AAA; diagnosed prenatally and with postnatal confirmation. We undertook a systematic review of studies on fetal AAA to synthesize available knowledge on diagnosing and managing this rare condition. Results A total of eight studies describing 24 patients were identified and analyzed. Conclusion Despite their rarity, fetal atrial appendage aneurysms necessitate early detect on due to associated severe complications. Our findings emphasize the importance of prenatal diagnosis through fetal echocardiography and highlight the need for further research to optimize management strategies and improve outcomes for affected individuals.","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"14 2","pages":"e170-e176"},"PeriodicalIF":0.9,"publicationDate":"2024-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11150053/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141247085","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

Delayed-Interval Delivery in Multiple Pregnancy: A Single-Center Experience of Five Cases. 多胎妊娠的延迟临产：五例单中心经验

IF 0.9

AJP Reports Pub Date : 2024-05-23 eCollection Date: 2024-04-01 DOI: 10.1055/s-0044-1787112

Roaa Hassan Gadeer, Ahlam Alhinai, Karen Fung-Kee-Fung, Ana Werlang

{"title":"Delayed-Interval Delivery in Multiple Pregnancy: A Single-Center Experience of Five Cases.","authors":"Roaa Hassan Gadeer, Ahlam Alhinai, Karen Fung-Kee-Fung, Ana Werlang","doi":"10.1055/s-0044-1787112","DOIUrl":"10.1055/s-0044-1787112","url":null,"abstract":"Objectives To describe the obstetric management and perinatal outcomes in multiple pregnancies with delayed-interval delivery (DID) of the cotwin in a tertiary hospital. Methods This is a retrospective chart review of all cases of DID between December 2021 and 2022 at The Ottawa Hospital. Five cases of DID were identified and reviewed to obtain information on obstetric management and maternal-neonatal outcomes. We included eligible twins and triplets. No multiples were excluded. We obtained ethics approval for this case series. Results Four sets of dichorionic diamniotic twins and one trichorionic triamniotic triplet were included. Our patients were admitted between 17 3/7 and 21 5/7 weeks of gestation. We achieved an interval delivery range between 1 and 36 days. Four out of six multiples did not survive in DID. The two surviving newborns were born at 23 0/7 and 23 2/7 , stayed in the neonatal intensive care unit (NICU) for 111 and 131 days, discharged with a weight of 3,594 and 2,743 g, respectively. All DID cases were delivered spontaneously except for two patients that required augmentation due to maternal sepsis. Conclusion Despite the high risk of maternal, fetal, and neonatal morbidity and mortality, if delivery of the first twin occurs before 20 gestational weeks, DID could be considered in selected cases to improve outcomes for the cotwin.","PeriodicalId":7645,"journal":{"name":"AJP Reports","volume":"14 2","pages":"e156-e161"},"PeriodicalIF":0.9,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11115972/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141086648","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

Type III Vasa Previa Associated with Resolution of a Low-Lying Placenta: Case Report and Literature Review. 与低置胎盘剥离有关的 III 型前置胎盘：病例报告和文献综述

IF 0.9

AJP Reports Pub Date : 2024-05-10 eCollection Date: 2024-04-01 DOI: 10.1055/a-2315-7550

Joanna J Kim, Katherine Bonhomme, Lawrence W Oppenheimer, Laura Gaudet

引用次数: 0