Case Reports in Perinatal Medicine最新文献_第6页

Didelphys uterus: a successful induction of labor in a case of intrauterine fetal death near term 双子宫:一个成功引产的情况下，宫内胎儿死亡的近月

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Case Reports in Perinatal Medicine Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0078

Algeri Paola, D’Oria Patrizia, Toto Valentina, Fenili Paola, Ermito Santina, Bonalumi Silvia, R. Denise, Ciammella Massimo

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Prenatal diagnosis of ectrodactyly-ectodermal dysplasia clefting syndrome ‒ a case report with literature review 外指-外胚层发育不良劈裂综合征的产前诊断1例并文献复习

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Case Reports in Perinatal Medicine Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0076

E. Savukynė, E. Machtejevienė, Kotryna Bajeruniene, V. Ašmonienė

{"title":"Prenatal diagnosis of ectrodactyly-ectodermal dysplasia clefting syndrome ‒ a case report with literature review","authors":"E. Savukynė, E. Machtejevienė, Kotryna Bajeruniene, V. Ašmonienė","doi":"10.1515/crpm-2021-0076","DOIUrl":"https://doi.org/10.1515/crpm-2021-0076","url":null,"abstract":"Abstract Objectives The ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome is a rare genetic anomaly described as ectrodactyly (hands and feet), ectodermal dysplasia, and facial cleft with an incidence of around 1 in 90,000 in the population. This syndrome belongs to the TP63 gene’s mutation family. Ectrodactyly is described as the absence of the central toes or fingers or parts of these appendages. Ectodermal dysplasia usually includes changes in the skin, teeth, hair, nails, endocrine glands, nasolacrimal ducts, genitourinary system, conductive hearing loss. Case presentation This is a unique case of a 40-year-old second gravida, suspected of having a sporadic form of EEC syndrome. Routine transabdominal ultrasound at 14 weeks of gestation revealed malformation of the limbs. The two-dimensional and three-dimensional ultrasound at 16 weeks showed a fetus with ectrodactyly of right hand and foot and cleft palate presence. Diagnostic amniocentesis was performed at 17 weeks of gestation. A molecular genetics test using the Sanger sequencing method from amniotic fluid was performed by scanning TP63 gene sequences and revealed a heterozygous pathogenic variant in TP63. The patient decided on feticide. Conclusions The heredity of the syndrome is autosomal dominant with high variable expression. More than 300 clinical cases of this syndrome are described in the literature, including both sexes, but the actual etiology is unknown.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"2 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81708179","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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A rare but troublesome complication of cesarean section: the uterocutaneous fistula. Report of two cases and review of literature 剖宫产术中一种罕见但棘手的并发症:子宫皮瘘。二例报告及文献复习

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Case Reports in Perinatal Medicine Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0057

R. Cicinelli, E. Cicinelli, F. Crupano, M. Vinciguerra, Bruno Lamanna, A. Vimercati

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Pelvic abscess associated with Actinomyces species ‒ a rare post-cesarean complication 盆腔脓肿与放线菌有关-一种罕见的剖宫产后并发症

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Case Reports in Perinatal Medicine Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0048

Yuping Wang, S. Ferrero, Shasha Li, Shisan Liu, Wah Yang

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Preterm twins with antenatal presentation of Pearson syndrome 早产双胞胎与产前表现皮尔森综合征

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Case Reports in Perinatal Medicine Pub Date : 2022-01-01 DOI: 10.1515/crpm-2021-0083

Leonor Castro, A. C. Ferreira, Á. Cohen, Israel Macedo, T. Tomé

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Stress degree demonstrated in mothers with phenylketonuria or hyperphenylalaninemia infant when requested for total or partial breastfeeding replacement 有苯丙酮尿症或高苯丙氨酸血症婴儿的母亲在要求全部或部分母乳喂养时表现出的压力程度

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Case Reports in Perinatal Medicine Pub Date : 2021-01-01 DOI: 10.1515/crpm-2019-0079

K. Schulpis, K. Iakovou

{"title":"Stress degree demonstrated in mothers with phenylketonuria or hyperphenylalaninemia infant when requested for total or partial breastfeeding replacement","authors":"K. Schulpis, K. Iakovou","doi":"10.1515/crpm-2019-0079","DOIUrl":"https://doi.org/10.1515/crpm-2019-0079","url":null,"abstract":"Abstract Obejctives Phenylketonuria (PKU) and hyperphenylalaninemia (HPHE) are metabolic disorders of phenylalanine (phe) metabolism due to the liver enzyme phe hydroxylase deficiency resulting in mental retardation. The only treatment of these disorders is the total or the partial breastfeeding replacement with special formula, respectively. Case presentation We aimed to evaluate the maternal stress degree in the two groups of mothers and compare the stress degree between mothers who were obliged to replace breastfeeding completely with those who replaced it partially. Mothers (n=50) were divided into two groups: n=25 with PKU and n=25 with HPHE infants. Mothers with PKU newborns were obliged to replace breastfeeding completely and feed their newborns with a common formula plus phe free medical food, whereas mothers with HPHE infants partially replaced breastfeeding with phe free medical food. Stress degrees were calculated using special questionnaire checklist by Bourne E. Psychological support was provided for both groups of mothers with stress. Conclusions Most mothers with PKU infants experienced high or severe stress, whereas mothers with HPHE newborns suffered from low and moderate symptoms and signs of stress. After psychological support most mothers with PKU newborns were ameliorated from stress symptoms; mothers with HPHE neonates experienced almost no stress symptoms. Mothers with PKU infants obliged to complete breastfeeding replacement experienced high and/or severe stress degrees as compared to mothers with HPHE newborns with partial breastfeeding replacement. Psychological support resulted in amelioration of both tested groups.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"1 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90389052","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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Postpartum ovarian vein thrombosis 产后卵巢静脉血栓

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Case Reports in Perinatal Medicine Pub Date : 2021-01-01 DOI: 10.1515/crpm-2021-0002

Kelly Ribeiro, S. Mahboobani, K. van Ree, K. Clifford, T. Teoh

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Case report: The first COVID-19 case among pregnant women at 21-week in Vietnam 病例报告:越南21周孕妇中出现首例COVID-19病例

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Case Reports in Perinatal Medicine Pub Date : 2021-01-01 DOI: 10.1515/crpm-2020-0067

G. Tran, A. Nguyen, Ha Xuan Nam, Tareq Mohammed Ali Al-Ahdal, Ranjit Tiwari, Hảo Nguyễn Thị, Jaffer Shah, N. Huy, T. N. Pham

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Obstetrical history of a family with combined oxidative phosphorylation deficiency 3 and methylenetetrahydrofolate reductase polymorphisms 合并氧化磷酸化缺陷3和亚甲基四氢叶酸还原酶多态性家族的产科史

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Case Reports in Perinatal Medicine Pub Date : 2021-01-01 DOI: 10.1515/crpm-2020-0085

M. Cagan, Canan Unal, Gizem Urel Demir, E. Fadıloğlu, R. Ozgul, M. Beksaç

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Management of a patient in the state of total occlusion of aorta due to Takayasu arteritis in preconceptional and pregnancy period 1例孕前及妊娠期高松动脉炎致主动脉全闭塞患者的处理

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Case Reports in Perinatal Medicine Pub Date : 2021-01-01 DOI: 10.1515/crpm-2021-0015

Emre Günakan, T. Akay, S. Esin

{"title":"Management of a patient in the state of total occlusion of aorta due to Takayasu arteritis in preconceptional and pregnancy period","authors":"Emre Günakan, T. Akay, S. Esin","doi":"10.1515/crpm-2021-0015","DOIUrl":"https://doi.org/10.1515/crpm-2021-0015","url":null,"abstract":"Abstract Objectives Total aortic occlusion is a severe complication of Takayasu arteritis (TAK). Pregnancy follow-up in the state of total aortic occlusion due to TAK has not been reported before. Case presentation A 35 year-old nulliparous woman with total aortic occlusion in the distal aorta due to TAK, admitted with pregnancy desire. She had developed a collateral vessel system which has maintained the lower body circulation. She was informed about the potential risks after an evaluation and she admitted to our clinic at the seventh week of pregnancy, and acetylsalicylic acid was prescribed. At 20th gestational week anomaly screening was in normal limits although the uterine artery Doppler had lower S/D, PI and RI values. She was followed-up regularly in every two weeks. Vascular examination was performed by using an ankle brachial index (ABI) by duplex ultrasound. At 20th gestational week ankle brachial index score was 0.8–0.9 which indicates mild disease. Around 28th gestational week her claudication got worse again and ABI was in moderate level (0.5–0.8) and low molecular weight heparin was started. Until 37th gestational week her disease was stable, ABI was above 0.5, her blood pressure was in normal limits, no vascular complication occurred and the baby’s growth percentile was at 25th centile. At 37th gestational week a 2,640 g baby was delivered. Patient was discharged without any complications at third post-operative day. Conclusions Complicated TAK patients may have good obstetric outcomes with a multidisciplinary approach in experienced tertiary centers.","PeriodicalId":9617,"journal":{"name":"Case Reports in Perinatal Medicine","volume":"23 1","pages":""},"PeriodicalIF":0.1,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78690667","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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