Case Reports in Perinatal Medicine最新文献_第4页

Prenatal diagnosis of Holt-Oram syndrome Holt-Oram综合征的产前诊断

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Case Reports in Perinatal Medicine Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0058

V. Foreste, C. Riccardi, B. Zizolfi, A. Gallo, A. Di Spiezio Sardo

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Haemophagocytic lymphohistiocytosis during pregnancy: a case presentation and literature review 妊娠期嗜血球性淋巴组织细胞增多症一例报告及文献复习

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Case Reports in Perinatal Medicine Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0004

Larissa Fávero Vanraes, Veerle Beckers, K. van Berkel, L. Gucciardo, G. Faron

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The journey from blue to pink–a rare cause for self-limiting methemoglobinemia in an Indian baby 从蓝色到粉红色的过程——这是一个印度婴儿患上自限性高铁血红蛋白血症的罕见原因

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Case Reports in Perinatal Medicine Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0054

S. Chandran, B. Ross, Manish Kumar

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Fetal neonatal alloimmune thrombocytopenia treatment with intravenous immunoglobulin: a challenge in pregnancy management and infection assessment ‒ case report 静脉注射免疫球蛋白治疗胎儿新生儿同种免疫血小板减少症:妊娠管理和感染评估的挑战-病例报告

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Case Reports in Perinatal Medicine Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0095

S. da Cunha, Maria Carolina Fortuna Carneiro, I. Reis, C. Rasteiro, Augusta Pinto, T. Teles

{"title":"Fetal neonatal alloimmune thrombocytopenia treatment with intravenous immunoglobulin: a challenge in pregnancy management and infection assessment ‒ case report","authors":"S. da Cunha, Maria Carolina Fortuna Carneiro, I. Reis, C. Rasteiro, Augusta Pinto, T. Teles","doi":"10.1515/crpm-2021-0095","DOIUrl":"https://doi.org/10.1515/crpm-2021-0095","url":null,"abstract":"Abstract Objectives Fetal and neonatal alloimmune thrombocytopenia is a rare condition associated with fetal and neonatal morbimortality. Prevention of recurrence includes intravenous immunoglobulin. One challenge in pregnancy surveillance remains the fact that maternal intravenous immunoglobulins therapy can result in false-positive infectious markers. The goal of this case report is to highlight the possible serological misdiagnosed infection associated with intravenous immunoglobulins therapy in pregnancy, and the difficulty of management in this time of a women’s life. Case presentation We report a case of a 38-year-old pregnant woman, with a previous affected child with fetal neonatal alloimmune thrombocytopenia. To prevent recurrence, intravenous immunoglobulin treatment was administered in early second trimester. In the second trimester routine analysis, a positive anti-treponemal test and a toxoplasmosis seroconversion occurred. Infection suspicion based on test positivity of some infectious agents, after passive acquired antibodies, can lead to anxiety and subsequent unnecessary treatment. Conclusions Clinicians and pathologists must be aware of the possible acquisition of these antibodies during treatment and be able to counsel patients receiving intravenous immunoglobulin. Managing possible infectious intercurrences in pregnancy remains a challenge.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76867659","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}

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Acute uterine inversion – A complication revisited; a case series and review of literature 急性子宫内翻-并发症再遇;一个案例系列和文献综述

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Case Reports in Perinatal Medicine Pub Date : 2022-01-01 DOI: 10.1515/crpm-2020-0081

A. Kaur, Beant Singh

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Neonatal sepsis due to Coxsackievirus B3 complicated by liver failure and pulmonary hemorrhage 柯萨奇B3病毒致新生儿败血症并发肝功能衰竭和肺出血

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Case Reports in Perinatal Medicine Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0085

Rasmey Thach, L. Gitto

{"title":"Neonatal sepsis due to Coxsackievirus B3 complicated by liver failure and pulmonary hemorrhage","authors":"Rasmey Thach, L. Gitto","doi":"10.1515/crpm-2021-0085","DOIUrl":"https://doi.org/10.1515/crpm-2021-0085","url":null,"abstract":"Abstract Objectives Coxsackievirus B3 (CVB3) is a single-stranded RNA included in the “Human Enterovirus B” category associated with multiple, even severe, health issues in humans. Newborns are at risk of life-threatening conditions due to enteroviral infections. In newborns, the infection can be transmitted vertically, intrapartum or postpartum, and potentially through breast milk. Neonatal sepsis may result in severe complications, such as liver failure and pulmonary hemorrhage, with subsequent death. Case presentation A male newborn was admitted to the emergency department with fever, generalized hypotonia, hypo-reactivity to external stimuli, multiple episodes of apnea and desaturation, and metabolic acidosis. Laboratory studies revealed disseminated intravascular coagulation, and evidence of progressive multiorgan failure. Polymerase chain reaction performed on specimens collected at the time of admission returned positive for Enterovirus, specifically Coxsackievirus B3 VP1 gene. The patient eventually succumbed after several days due to severe sepsis, despite aggressive treatment with immunoglobulins and Pleconaril. An autopsy revealed hemorrhage in the lung, liver, heart, and gastric mucosa. Conclusions Enteroviral neonatal infections should be included in the differential diagnosis of a newborn presenting with fever, failure to thrive, and hyporeactivity, especially if symptoms arise during the classic CVB3 season. Maternal medical history should be reviewed for any possible febrile symptoms associated with a recent enterovirus infection. Aggressive treatment with immunoglobulins and, if available, Pleconaril could effectively treat the infection.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90988593","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: 1

Acute glycogenic hepatopathy in pregnancy: a case report and literature review 妊娠期急性糖原性肝病1例报告并文献复习

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Case Reports in Perinatal Medicine Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0065

O. Abuzeid, Mia Heiligenstein, Lama R. Noureddine, C. Heiselman, J. Bernasko

引用次数: 0

Challenges in genetic counseling for congenital anomalies of the kidneys and urinary tract (CAKUT) spectrum 遗传咨询在肾脏和泌尿系统先天性异常(CAKUT)频谱的挑战

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Case Reports in Perinatal Medicine Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0063

Ping Gong, M. Pelletier, N. Silverman, K. Kuhlman, R. Wallerstein

{"title":"Challenges in genetic counseling for congenital anomalies of the kidneys and urinary tract (CAKUT) spectrum","authors":"Ping Gong, M. Pelletier, N. Silverman, K. Kuhlman, R. Wallerstein","doi":"10.1515/crpm-2021-0063","DOIUrl":"https://doi.org/10.1515/crpm-2021-0063","url":null,"abstract":"Abstract Objectives Congenital anomalies of the kidneys and urinary tract (CAKUT) are one of the most common sets of congenital defects. Bilateral renal agenesis is a severe presentation of the CAKUT spectrum. Case presentation We report on two families who presented with recurrent pregnancies affected with bilateral renal agenesis and negative family histories. Likely pathogenic variants in the GREB1L gene were identified in the affected pregnancies and subsequently in their asymptomatic fathers. The first familial variant was identified by a multi-gene CAKUT panel and the second by whole exome sequencing. Renal ultrasound showed the father in family 1 had asymptomatic unilateral pelvic kidney and the father in family 2 had no apparent renal anomalies. Conclusions Recent identification of genes responsible for CAKUT allows for genetic testing of affected families. Identification of the genetic etiology of CAKUT cases has multiple benefits including accurate risk assessment and reproductive options. Genetic counseling around CAKUT is challenging due to the extreme variability in presentation of the disorders.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85191603","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

Severe hematoma following the use of low molecular weight heparin in preterm neonate 早产新生儿使用低分子肝素后的严重血肿

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Case Reports in Perinatal Medicine Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0086

Naveed Ur Rehman Durrani, Elhindi Elfaki, Nqobile Tessa Sigola, C. Tscherning, S. Gupta, G. Glass, Phani Kiran Yajamanyum

引用次数: 1

Chagasic heart failure in a pregnant woman in a non-endemic area: case report and long-term follow-up 非流行地区孕妇恰加斯型心力衰竭:病例报告和长期随访

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Case Reports in Perinatal Medicine Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0074

Teresa Gastañaga-Holguera, V. González-González, P. Merino-Amador

{"title":"Chagasic heart failure in a pregnant woman in a non-endemic area: case report and long-term follow-up","authors":"Teresa Gastañaga-Holguera, V. González-González, P. Merino-Amador","doi":"10.1515/crpm-2021-0074","DOIUrl":"https://doi.org/10.1515/crpm-2021-0074","url":null,"abstract":"Abstract Objectives Chagas disease (CD) is caused by infection with the protozoan Trypanosoma cruzi, a parasite that nests in various tissues, causing irreversible cardiac damage in 30% of patients with chronic disease and neurological or digestive lesions in 10%. CD is now found in areas receiving migrant populations where no vector-borne transmission occurs. Chagasic cardiomyopathy (CC) is the most serious complication of the chronic phase of CD and the major cause of morbidity and mortality among patients with CD. Case presentation Bolivian woman at 38 weeks of gestation was admitted at the emergency room with the diagnosis of congestive heart failure. Cesarean section was performed and maternal hypotension and uterine atony occurred. Dilated myocardiopathy with severe left ventricle dysfunction was diagnosed. The patient referred positive serology for T. cruzi and polymerase chain reaction (PCR) was positive so benznidazole therapy was started. She was discharged due to progressive improvement with cardiological treatment and implantable cardioverter defibrillator was placed 5 years later for the prevention of sudden cardiac death. Conclusions The diagnosis of CC in non-endemic areas requires a high index of suspicion and it is based on serology. Antiparasitic drugs are almost 100% effective in infected newborn babies and highly effective in the treatment of patients in the acute stage of the disease. However, the efficacy of both drugs decreases the longer a person has been infected. Treatment of CC that causes chronic heart failure is similar to that in non-Chagasic etiology.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91333896","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}

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