congenital abnormality

先天性异常
  • 文章类型: Case Reports
    目前的病例报告是一名男婴,在妊娠38周时由下段剖宫产非近亲父母第二胎出生,血管充血,左腿血管变色和扩张的独特模式。股动脉和静脉的多普勒显示正常的三相流和波形,没有任何明显的管腔狭窄的证据。下肢长度也有1.5厘米的差异。使用荧光酶免疫测定筛查进行的基因检测显示出阴性筛查报告。使用畸变产物耳声发射进行的耳学筛查显示,两只耳朵的外毛细胞功能正常。该病例被诊断为先天性皮肤毛细血管扩张症(CMTC),排除遗传疾病后。它与任何其他重大健康问题无关。CMTC的诊断是基于出生时的皮肤外观,两天后不久变得更加明显。在这种情况下,没有特定的治疗是必要的,病情随时间改善.
    The current case report presents a male baby, second born to nonconsanguineous parents at 38 weeks of gestation by lower segment cesarean section, with engorged blood vessels and distinctive patterns of discoloration and dilation of blood vessels on the left leg. A Doppler of the femoral artery and vein showed normal triphasic flow and waveforms without any evidence of significant luminal stenosis. There was also a lower limb length discrepancy of 1.5 cm. Genetic testing using fluorometric enzyme immunoassay screening revealed a negative screening report. Otologic screening using distortion product otoacoustic emissions revealed normal functioning of outer hair cells in both ears. The case was diagnosed as cutis marmorata telangiectatica congenita (CMTC), after ruling out genetic diseases. It was not associated with any other significant health problems. The diagnosis of CMTC was based on the appearance of the skin at birth, which became more noticeable shortly after two days. In this case, no specific treatment was warranted and the condition improved with time.
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  • 文章类型: Case Reports
    一个14个月大的女孩被她的父母带到我们这里,抱怨她的右下肢自出生以来逐渐缩短。出生在非近亲的父母,来自贫穷的社会经济背景,她的出生和产前史都很顺利。体格检查显示没有面部畸形;然而,她的右大腿又短又大,臀部有限制,膝盖,和脚踝运动。儿科评价显示生长发育正常。X线检查证实右下肢股骨近端局灶性缺损(PFFD)。经过父母对这种情况的广泛咨询,潜在的干预措施,和结果,由于担心手术费用,父母选择了假肢治疗,风险,和美容结果。为肢体准备了定制的延伸假体,并适合。在一年的随访中,孩子表现出正常的步态模式,髋部稳定,膝盖,和脚踝运动,父母对假肢管理表示满意,暂时比手术更喜欢它。
    A 14-month-old female child was brought to us by her parents with the complaint of progressive shortening of her right lower limb since birth. Born to non-consanguineous parents from a poor socioeconomic background, her birth and antenatal history were uneventful. Physical examination revealed no facial dysmorphism; however, her right thigh was short and bulky, and there were restrictions in hip, knee, and ankle movements. The pediatric evaluation showed normal growth and development. X-rays confirmed proximal femoral focal deficiency (PFFD) of the right lower limb. After extensive parental counseling regarding the condition, potential interventions, and outcomes, the parents opted for prosthetic management due to concerns about surgical costs, risks, and cosmetic outcomes. A custom-made extension prosthesis was prepared for the limb and was fit. At a follow-up of one year, the child exhibited a normal gait pattern with stable hip, knee, and ankle motion, and the parents expressed satisfaction with the prosthetic management, preferring it over surgical intervention for the time being.
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  • 文章类型: Case Reports
    本报告旨在通过检查临床病例并对相关文献进行全面审查,研究47,XXX与胎儿水肿之间的关系。一个34岁的日本女人,妊娠2,第1段,在妊娠27周时被诊断为胎儿水肿。产前检测显示为47,XXX核型。干预措施包括胸腔穿刺术和胸腔羊膜分流术。在34周时进行了剖宫产,女性新生儿最初出现了呼吸挑战。在新生儿重症监护病房69天后,婴儿情况稳定出院,并确认了47,XXX核型。此病例可能会增加证据,表明47,XXX与胎儿水肿之间存在关联。染色体异常是胎儿水肿的原因,但其与47,XXX的关联尚不清楚。向夫妻提供有关这种情况的全面信息至关重要,考虑将胎儿积水纳入相关疾病列表可能是明智的。
    This report aims to investigate the association between 47,XXX and fetal hydrops by examining a clinical case and performing a comprehensive review of the relevant literature. A 34-year-old Japanese woman, gravida 2, para 1, was diagnosed with fetal hydrops at 27 weeks\' gestation. Prenatal testing revealed a 47,XXX karyotype. Interventions included thoracocentesis and a thoracoamniotic shunt. A cesarean delivery was performed at 34 weeks and the female neonate initially had respiratory challenges. After 69 days in the neonatal intensive care unit, the infant was discharged in stable condition, and the 47,XXX karyotype was confirmed. This case may add evidence suggesting an association between 47,XXX and fetal hydrops. Chromosomal abnormalities are causes of fetal hydrops, but its association with 47,XXX remains unclear. Providing comprehensive information on this condition to couples is crucial, and considering the inclusion of fetal hydrops in the list of associated conditions might be advisable.
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  • 文章类型: Journal Article
    目标:在妊娠早期给予复发性/先兆妊娠流产或辅助生殖技术(ART)中作为黄体支持时,暴露于地屈孕酮是先天性异常的危险因素吗?
    结论:地屈孕酮,当在妊娠早期给予复发性/先兆妊娠丢失或作为ART的黄体支持时,不是先天性异常的相关额外风险因素。
    背景:尽管大量的临床试验和荟萃分析显示地屈孕酮与先天性异常之间没有关联,一些最近撤回的出版物推测与致畸性有关.Dydrogestone通常也被认为比生物相同的孕激素安全性低。
    根据预先指定的方案进行了系统评价,并在Medline上进行了搜索,Embase,Cochrane中央对照试验登记册(中央),和临床试验。搜索仅限于人类研究,语言没有限制,地理区域,或日期。搜索算法使用了PICO(人口,干预,比较,结果)风格的方法结合了简单的搜索术语和医学主题标题术语。由于先天性异常主要是次要结果,已添加搜索词“安全”。
    方法:介入研究和观察性研究(OS)设计符合纳入条件。纳入标准是:17岁以上的女性因先兆流产而接受治疗,反复妊娠丢失,和/或ART;与安慰剂相比,在妊娠早期使用地屈孕酮,无治疗或其他干预措施;新生儿或≤12个月婴儿的先天性异常报告(主要结局)。两位作者(A.K.,M.R.N.)独立提取以下数据:一般研究信息,研究人口细节,干预和比较器(S),和先天性异常的频率(分类,确定时间,和类型)。偏倚风险集中于先天性畸形的报告,并使用Cochrane偏倚风险工具版本2或ROBINS-I工具进行评估。使用GRADeproGDT平台生成GRADE调查结果汇总表。
    结果:在文献检索过程中检索到的897条记录中,47人被评估为资格。最终分析包括9项研究:6项随机对照试验(RCT)和3项操作系统。在RCT中,其中3人的偏倚风险较低,3人的偏倚风险较高.其中两个操作系统被认为具有严重的偏倚风险,一个具有严重的偏倚风险,并被排除在证据综合之外。其余的8项研究包括来自16个国家的5070名参与者和2680名活产。仅在随机对照试验的荟萃分析中,总体风险比(RR)为0.92[95%CI0.55;1.55],且确定性较低.当包括两个操作系统时,总体RR为1.11[95%CI0.73;1.68],确定性较低。
    结论:分析中包含的研究并未将先天性异常报告为主要结局;先天性异常的报告通常未标准化。
    结论:本系统文献综述和荟萃分析为临床医生和患者提供了明确的保证,即地屈孕酮与先天性异常的相关程度不超过环境和遗传因素可能导致的预期。这项工作的结果代表了目前有关先天性异常问题的最高证据水平,这消除了现有的不确定性造成的质量差和撤回的研究。
    背景:编辑支持由HighfieldCommunicationConsultancy提供,牛津,英国,由雅培产品运营公司赞助,Allschwil,瑞士。A.K.,J.A.G.-V.,L.P.S.,J.N.v.d.A.,和J.F.S.从雅培获得酬金,以筹备和参加咨询委员会。J.A.G.-V.收到默克公司的赠款和讲课费,Organon,套圈,GedeonRichter,还有Theramex.M.R.N.没有利益冲突。J.N.v.d.A.和J.A.G.-V.没有其他利益冲突。A.K.在2023年9月22日的IVF全球大会上收到了雅培的付款。J.F.S.获得了美国国立卫生研究院的资助,Elsevier和PrescientMedicine(SOLVDHealth)的特许权使用费/许可证,伯劳斯惠康基金(BWF)和拜耳的咨询费,马吉妇女研究所酬金,威斯康星州国家灵长类动物研究中心,堪萨斯大学和Oakridge国家研究实验室,敏捷,DaiichiSankyo/美国丽晶,还有拜耳,以及参加国际人类生殖学会(IAHR)会议的旅行支持。J.F.S.拥有与PCOS的诊断和治疗以及早产预测相关的专利。J.F.S.参加SOLVD健康咨询委员会,威斯康星州国家灵长类动物研究中心,和FHI360,是生殖调查协会的前任主席董事会成员,在以下组织中发挥领导作用:科学顾问委员会,SOLVD健康,EAB避孕技术倡议主席,FHI360,EAB成员,威斯康星州国家灵长类动物研究中心,MWRI峰会咨询委员会,BWFNextGen妊娠研究小组主席,霍华德医院的医疗执行委员会,和GeorgeannaJones基金会,是副总统,IAHR。L.P.S.已收到ShieldPharmaceuticals的咨询费,镰刀菌,Organon,Natera,Celula中国,AiVF,敏捷,DaiichiSankyo,美国摄政王,还有Medicem,来自敏捷的酬金,DaiichiSankyo/美国丽晶,还有拜耳,和BD诊断的旅行支持。L.P.S.参加了Astellas的数据安全监测委员会,并且是fezolinetant的DSMB主席。雅培在研究的资助或研究设计中没有任何作用,数据收集,数据分析,数据解释,或撰写报告。
    背景:PROSPERO2022CRD42022356977。
    OBJECTIVE: Is exposure to dydrogesterone a risk factor for congenital anomalies when given in the first trimester for recurrent/threatened pregnancy loss or as luteal support in assisted reproductive technology (ART)?
    CONCLUSIONS: Dydrogesterone, when given in the first trimester for recurrent/threatened pregnancy loss or as luteal support in ART, is not a relevant additional risk factor for congenital anomalies.
    BACKGROUND: Despite large clinical trials and meta-analyses that show no association between dydrogesterone and congenital anomalies, some recently retracted publications have postulated an association with teratogenicity. Dydrogesterone is also often rated as less safe than bioidentical progestins.
    UNASSIGNED: A systematic review was conducted according to a pre-specified protocol with searches on Medline, Embase, Cochrane Central Register of Controlled Trials (CENTRAL), and Clinicaltrials.gov. The search was limited to human studies, with no restrictions on language, geographical region, or date. The search algorithm used a PICO (Population, Intervention, Comparison, Outcome)-style approach combining both simple search terms and medical subject heading terms. As congenital anomalies are mostly reported as secondary outcomes, the search term \'safety\' was added.
    METHODS: Interventional study and observational study (OS) designs were eligible for inclusion. Inclusion criteria were: women >17 years old treated for threatened miscarriage, recurrent pregnancy loss, and/or ART; the use of dydrogesterone in the first trimester compared with placebo, no treatment or other interventions; and reporting of congenital anomalies in newborns or infants ≤12 months old (primary outcome). Two authors (A.K., M.R.N.) independently extracted the following data: general study information, study population details, intervention and comparator(s), and frequencies of congenital anomalies (classification, time of determination, and type). Risk of bias focused on the reporting of congenital malformations and was assessed using the Cochrane Risk of Bias Tool Version 2 or the ROBINS-I tool. The GRADEproGDT platform was used to generate the GRADE summary of findings table.
    RESULTS: Of the 897 records retrieved during the literature search, 47 were assessed for eligibility. Nine studies were included in the final analysis: six randomized controlled trials (RCTs) and three OSs. Among the RCTs, three had a low risk and three a high risk of bias. Two of the OSs were considered to have a serious risk of bias and one with critical risk of bias and was excluded for the evidence syntheses. The eight remaining studies included a total of 5070 participants and 2680 live births from 16 countries. In the meta-analysis of RCTs only, the overall risk ratio (RR) was 0.92 [95% CI 0.55; 1.55] with low certainty. When the two OSs were included, the overall RR was 1.11 [95% CI 0.73; 1.68] with low certainty.
    CONCLUSIONS: The studies included in the analysis do not report congenital anomalies as the primary outcome; reporting of congenital anomalies was often not standardized.
    CONCLUSIONS: This systematic literature review and meta-analysis provide clear reassurance to both clinicians and patients that dydrogesterone is not associated with congenital anomalies above the rate that might be expected due to environmental and genetic factors. The results of this work represent the highest current level of evidence for the question of congenital anomalies, which removes the existing uncertainty caused by poor quality and retracted studies.
    BACKGROUND: Editorial support was provided by Highfield Communication Consultancy, Oxford, UK, sponsored by Abbott Products Operations AG, Allschwil, Switzerland. A.K., J.A.G.-V., L.P.S., J.N.v.d.A., and J.F.S. received honoraria from Abbott for preparation and participation in an advisory board. J.A.G.-V. received grants and lecture fees from Merck, Organon, Ferring, Gedeon Richter, and Theramex. M.R.N. has no conflicts of interest. J.N.v.d.A. and J.A.G.-V. have no other conflicts of interest. A.K. received payment from Abbott for a talk at the IVF Worldwide congress on 22 September 2023. J.F.S. has received grants from the National Institutes of Health, royalties/licences from Elsevier and Prescient Medicine (SOLVD Health), consulting fees from Burroughs Wellcome Fund (BWF) and Bayer, honoraria from Magee Women\'s Research Institute, Wisconsin National Primate Research Centre, University of Kansas and Oakridge National Research Laboratory, Agile, Daiichi Sankyo/American Regent, and Bayer, and travel support to attend meetings for the International Academy of Human Reproduction (IAHR). J.F.S. has patents related to diagnosis and treatment of PCOS and prediction of preterm birth. J.F.S. participates on advisory boards for SOLVD Health, Wisconsin National Primate Research Centre, and FHI360, was the past President board member of the Society for Reproductive Investigation, has a leadership role for the following organizations: Scientific Advisory Board, SOLVD Health, EAB Chair for contraceptive technology initiative, FHI360, EAB member, Wisconsin National Primate Research Centre, Advisory Board for MWRI Summit, Chair of BWF NextGen Pregnancy Research Panel, Medical Executive Committee at the Howard, and Georgeanna Jones Foundation, and is Vice President, IAHR. L.P.S. has received consulting fees from Shield Pharmaceuticals, Scynexis, Organon, Natera, Celula China, AiVF, Agile, Daiichi Sankyo, American Regent, and Medicem, honoraria from Agile, Daiichi Sankyo/American Regent, and Bayer, and travel support from BD Diagnostics. L.P.S. participates on the data safety monitoring board for Astellas and is a Chair of DSMB for fezolinetant. Abbott played no role in the funding of the study or in study design, data collection, data analysis, data interpretation, or writing of the report.
    BACKGROUND: PROSPERO 2022 CRD42022356977.
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  • 文章类型: Case Reports
    交叉融合肾异位(CFRE)构成了罕见的先天性尿路异常,通常以其主要的无症状性质和频繁的偶然发现为特征。该病例报告描述了一名56岁男性因前列腺特异性抗原(PSA)水平升高而入院的临床资料。最终导致前列腺癌的诊断。病人无症状,没有家庭或手术背景.值得注意的是,在包括腹部计算机断层扫描(ACT)扫描的分期过程中,我们偶然发现了融合的异位肾.值得注意的是,在这种特殊情况下,没有其他泌尿道异常或肾功能障碍。本报告的意义在于强调了对具有这种解剖变异的患者采用精确成像技术和量身定制的管理策略的重要性。
    Crossed fused renal ectopia (CFRE) constitutes a rare congenital anomaly of the urinary tract, typically characterized by its predominantly asymptomatic nature and frequent incidental discovery. This case report delineates the clinical profile of a 56-year-old male admitted to our Prostate Cancer Outpatient Clinic due to elevated prostate-specific antigen (PSA) levels, ultimately leading to the diagnosis of prostate cancer. The patient was asymptomatic, with no family or surgical background. Notably, a fused ectopic kidney was incidentally identified during the staging process involving abdominal computed tomography (ACT) scanning. Remarkably, no additional abnormalities of the urinary tract or renal dysfunction manifested in this specific case. The significance of this report lies in the underscored emphasis on the importance of employing precise imaging techniques and tailored management strategies for patients harboring such anatomical variations.
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  • 文章类型: Journal Article
    目标:基孔肯雅病毒(CHIKV),重新出现的全球公共卫生问题,导致急性高热疾病,皮疹,和关节痛,怀孕期间可能会影响母亲和婴儿。CHIKV在非洲的母婴传播(MTCT)仍未得到充分研究。
    方法:我们的队列研究在2019年至2022年期间在尼日利亚的两家诊所筛查了1006名接受寨卡/登革热/CHIKV快速检测的孕妇。对快速检测呈阳性的妇女进行怀孕随访,并观察其婴儿六个月,用RT-PCR和中和测试的子集,调查CHIKV的血清阳性率和MTCT。
    结果:在1006名患者中,119名CHIKVIgM检测呈阳性,其中36人接受了详细的实验室测试。虽然IgM反应性样本均为RT-PCR阳性,通过CHIKV中和试验证实了14例有症状的孕妇。随访12名婴儿,结果8名正常,4名异常,包括死产,唇裂/腭裂伴小头畸形,早产,多指合并脓毒症和黄疸。CHIKVIgM检测确定了3种可能的产前传播。
    结论:在尼日利亚,我们发现妊娠期有显著的CHIKV感染,以及可能与出生异常相关的CHIKV产前传播.
    OBJECTIVE: Chikungunya virus (CHIKV), a reemerging global public health concern, which causes acute febrile illness, rash, and arthralgia and may affect both mothers and infants during pregnancy. Mother-to-child transmission (MTCT) of CHIKV in Africa remains understudied.
    METHODS: Our cohort study screened 1006 pregnant women with a Zika/dengue/CHIKV rapid test at two clinics in Nigeria between 2019 and 2022. Women who tested positive for the rapid test were followed through their pregnancy and their infants were observed for 6 months, with a subset tested by reverse transcription-polymerase chain reaction (RT-PCR) and neutralization, to investigate seropositivity rates and MTCT of CHIKV.
    RESULTS: Of the 1006, 119 tested positive for CHIKV immunoglobulin (Ig)M, of which 36 underwent detailed laboratory tests. While none of the IgM reactive samples were RT-PCR positive, 14 symptomatic pregnant women were confirmed by CHIKV neutralization test. Twelve babies were followed with eight normal and four abnormal outcomes, including stillbirth, cleft lip/palate with microcephaly, preterm delivery, polydactyly with sepsis, and jaundice. CHIKV IgM testing identified three possible antepartum transmissions.
    CONCLUSIONS: In Nigeria, we found significant CHIKV infection in pregnancy and possible CHIKV antepartum transmission associated with birth abnormalities.
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  • 文章类型: Journal Article
    目的心肌隐窝是与肥厚型心肌病(HCM)和其他疾病相关的先天性异常。这项研究评估了日本患者心肌隐窝的患病率。方法对连续300例(13-92岁)因临床怀疑缺血性心脏病而接受计算机断层扫描血管造影(CTA)的患者进行心肌隐窝评估。结果我们发现,在我们的研究人群中,心肌隐窝发生率为9.7%(29例),在2.3%(7名患者)中观察到多个隐窝。其中,8例(25%)肥厚型心肌病(HCM)患者中有2例出现心肌隐窝,其中1为根尖型HCM。单个隐窝的患者(22例),隐窝最常见的位置是在左心室心尖(16/22患者,72.7%),其次是下壁(5/22患者,22.7%)和室间隔(1/22例,4.6%)。结论在我们的研究中观察到的心肌隐窝的发生率与以前的研究报告一致。尽管日本人群中最常见的位置是左心室心尖。
    Objective Myocardial crypts are congenital abnormalities associated with hypertrophic cardiomyopathy (HCM) and other conditions. This study assessed the prevalence of myocardial crypts in Japanese patients. Methods Myocardial crypts were evaluated in a consecutive series of 300 patients (13-92 years old) who underwent computed tomography angiography (CTA) because of clinical suspicion of ischemic heart disease. Results We found a myocardial crypt incidence of 9.7% (29 patients) in our study population, with multiple crypts observed in 2.3% (7 patients). Among these, myocardial crypts were found in 2 out of 8 (25%) patients with hypertrophic cardiomyopathy (HCM), 1 of which was apical-type HCM. In patients with a single crypt (22 patients), the most common location of the crypt was at the left ventricular apex (16/22 patients, 72.7%), followed by the inferior wall (5/22 patients, 22.7%) and the interventricular septum (1/22 patients, 4.6%). Conclusion The incidence of myocardial crypts observed in our study aligns with that reported in previous studies, although the most common location among the Japanese population was the left ventricular apex.
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  • 文章类型: Case Reports
    口腔溃疡,所有小牛养殖场的经济问题,通常是沉默的,直到穿孔发生,在这个时候,管理是复杂的,而且往往是没有回报的。该案例研究描述了3天大的婆罗门小母牛的穿孔性溃疡,继发于先天性幽门和十二指肠近端狭窄,并导致明显的鼻孔扩张,泄漏,以及最终的腹膜炎和败血症.
    Abomasal ulcers, an economic concern for all calf-raising farms, are usually silent until perforation occurs, at which time management is complicated and often unrewarding. This case study describes perforating ulcer in a 3-day-old Brahman heifer, occurring secondary to a congenital narrowing of the pylorus and proximal duodenum and leading to marked abomasal distention, leakage, and eventual peritonitis and sepsis.
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  • 文章类型: Case Reports
    全位倒位是一种罕见的先天性异常,其特征是腹部和胸部器官的镜像移位。导致先天性脊柱侧凸的椎体异常根据形成失败进行分类。分割,或者两者兼而有之。手术治疗的标志是在大曲率发展之前的早期干预。先天性畸形的手术治疗要求使用神经系统监测,以最大程度地减少围手术期神经功能缺损的风险。
    方法:我们介绍了一名21岁的患者,该患者因矫正脊柱侧凸畸形而入院。长时间站立和长时间携带重物时背痛的投诉。她的全身检查显示右侧的心尖跳动,左侧肝脏迟钝,和肋骨驼峰畸形。
    先天性脊柱侧凸是脊柱最常见的先天性畸形。先天性弯曲是由于椎骨的异常发育(形成和/或分割失败)。先天性脊柱侧凸被认为与脊柱胚胎发育和相关畸形期间对胎儿的损害有关。在我们的案例中,X光显示心尖,脾,脾胃,主动脉出现在右侧,左侧可见较大的肝叶和下腔静脉。因此,影像表现支持全位倒位的诊断。
    结论:截骨矫正手术治疗脊柱侧凸合并全位倒位是一种安全有效的方法。
    UNASSIGNED: Situs inversus totalis is a rare congenital abnormality characterized by a mirror-image transposition of both the abdominal and the thoracic organs. Vertebral anomalies causing congenital scoliosis are classified on the basis of failures of formation, segmentation, or both. The hallmark of surgical treatment is early intervention before the development of large curvatures. The surgical treatment of a congenital deformity mandates the use of neurological monitoring to minimize the risk of perioperative neurological deficit.
    METHODS: We present a 21-year-old patient who was admitted for her scoliosis deformity correction. Complaints of back pain when standing for a long time and carrying heavy loads for too long. Her systemic examination revealed the apex cardiac beat on the right side, liver dullness on the left side, and rib hump deformity.
    UNASSIGNED: Congenital scoliosis is the most frequent congenital deformity of the spine. Congenital curvatures are due to anomalous development of the vertebrae (failure of formation and/or segmentation). Congenital scoliosis is believed to be related to an insult to the fetus during spine embryological development and associated malformations. In our case, the X-ray showed that the cardiac apex, spleen, stomach, and aorta were present on the right side, and the larger liver lobe and inferior vena cava were noted on the left side. Thus, the image manifestations supported the diagnosis of situs inversus totalis.
    CONCLUSIONS: Corrective surgery with osteotomy could be a safe and effective for the treatment of scoliosis associated with situs inversus totalis.
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  • 文章类型: Case Reports
    口咽畸胎瘤是一种极为罕见的先天性肿瘤。它们通常是产前诊断的,并且在出生时可能导致严重的气道阻塞和喂养困难。我们介绍了一名五个月大的女性,她被诊断患有腭畸胎瘤,无法茁壮成长,进食困难,并最终导致严重的阻塞性睡眠呼吸暂停。我们提出了一个五个月的术语,其他健康的女性,在一个月大的时候出现呼吸道合胞病毒发作后变得有症状。三个月大的时候,一位耳鼻喉科医生诊断出轻度喉软化,没有发现肿块,不建议进行手术干预.由于体重增加持续不佳,四个月大的时候,放置鼻胃管。她随后被录取接受进一步的检查。她有严重的喘鸣,未能茁壮成长,体重在第0.07百分位数。检查显示严重的阻塞性睡眠呼吸暂停和pal块阻塞了她的左口咽。在手术室对肿块进行活检和减积。病理学结果为成熟畸胎瘤,有神经胶质和肠组织的证据。在影像学上没有发现诊断畸胎瘤的病理特征,并通过病理鉴定三个生殖细胞层中的两个进行诊断。虽然大多数畸胎瘤是良性的,有可能涉及任何代表的生殖细胞层的恶性转化。许多畸胎瘤是产前诊断的,可能很大,通常需要在出生时进行子宫外产时治疗(EXIT)程序以建立安全的气道。总的来说,这个案例突出了彻底的头部和颈部检查的重要性,包括双侧柔性喉镜检查,在评估患有气道阻塞的婴儿时。评估这些患者的提供者应该考虑口咽肿块,比如畸胎瘤,作为鉴别的一部分,以确保准确和及时的诊断。
    Oropharyngeal teratomas are an extremely rare congenital tumor. They are often diagnosed prenatally and can cause significant airway obstruction and feeding difficulties at birth. We present a five-month-old female that was diagnosed with a palatal teratoma that presented with failure to thrive, difficulty feeding, and eventually with severe obstructive sleep apnea. We present a five-month-old term, otherwise healthy female who became stridulous after an episode of the respiratory syncytial virus at one month old. At three months old, an otolaryngologist diagnosed mild laryngomalacia with no mass identified, and no surgical intervention was recommended. Due to continued poor weight gain, at four months old, a nasogastric tube was placed. She was subsequently admitted for further workup. She had severe stridor, a failure to thrive, and was in the 0.07th percentile for weight. Workup revealed severe obstructive sleep apnea and a palatal mass obstructing her left oropharynx. A biopsy and debulking of the mass was performed in the operating room. Pathology resulted as a mature teratoma with evidence of glial and intestinal tissue. There are no pathognomonic characteristics found on imaging to diagnose teratomas, and diagnosis is made with pathologic identification of two of the three germ cell layers. Although most teratomas are benign, there is potential for malignant transformation involving any of the represented germ cell layers. Many teratomas are diagnosed prenatally and can be quite large, often requiring Ex Utero Intrapartum Treatment (EXIT) procedure at birth to establish a safe airway. Overall, this case highlights the importance of a thorough head and neck exam, including a bilateral flexible laryngoscopy, when evaluating an infant with airway obstruction. Providers evaluating these patients should consider oropharyngeal masses, such as teratoma, as part of the differential to ensure accurate and timely diagnosis.
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