BACKGROUND & AIMS: Milk (Similac), sucrose (12% wt/vol), or water were delivered to crying normal newborns once per minute for 5 minutes, in a volume of 0.1 mL/delivery. Milk and sucrose markedly reduced infant crying, and this calm persisted during the 3 minutes after substance delivery. Infants who received water were only marginally quieted, and this calm did not persist. Despite quieting agitated infants, milk did not cause them to bring their hands to their mouths during the period of milk treatment, whereas infants who received sucrose did bring their hands to their mouths. These data demonstrate that milk effectively quiets human newborns, that its quieting effects endure, and that the mechanisms that quiet and that underlie hand-in-mouth engagement are separable and independent.

背景与目标： 每分钟一次将牛奶（Similac），蔗糖（12％wt / vol）或水分5次输给哭泣的正常新生儿，持续5分钟，每次输注0.1 mL。牛奶和蔗糖显着减少了婴儿的哭泣，这种平静在药物输送后的3分钟内持续存在。刚喝水的婴儿只有一点点安静下来，这种平静并没有持续下去。尽管使躁动不安的婴儿安静下来，但是在进行乳汁治疗期间，牛奶并未使他们把手伸到嘴里，而接受蔗糖的婴儿却使把手伸到了嘴里。这些数据表明，牛奶有效地使人的新生儿安静，其安静效果得以持久，并且安静和作为亲手参与的基础的机制是可分离且独立的。

BACKGROUND & AIMS: -2

背景与目标： -2

BACKGROUND & AIMS: :Coronary artery fistula with giant coronary artery ectasia is a rare abnormal CHD. Multidetector CT is useful for the diagnosis. Early diagnosis and surgery are recommended.

背景与目标： ：冠状动脉瘘伴巨大冠状动脉扩张是一种罕见的冠心病异常。 Multidetector CT对诊断很有用。建议及早诊断和手术。

BACKGROUND & AIMS: :Emerging studies suggest that dietary components can affect gene expression through epigenetic mechanisms. Epigenetic modifications are heritable and potentially reversible changes in gene expression that do not require changes in the DNA sequence. The main mechanisms of epigenetic control in mammals are DNA methylation, histone modifications, and RNA silencing. The potential reversibility of epigenetic changes suggests that they could be modulated by nutrition and bioactive food compounds. Thus, epigenetic modifications could mediate environmental signals and provide a link between susceptibility genes and environmental factors in the etiology of cancer. Elucidating the impact of nutrition on epigenetic mechanisms may serve as a tool to predict an individuals' susceptibility to cancer, provide dietary recommendations, or provide therapeutic applications of natural compounds against cancer. The optimal duration and the dose necessary for a chemopreventive effect require further studies. There is limited information about tissue specificity and temporal aspects of dietary treatments. Species differences need to be considered when interpreting results from various models. Importantly, molecular mechanisms of bioactive dietary components should be investigated in greater detail in human intervention studies. Although some of these issues remain controversial, this review mainly focuses on promising data that support the developing field of Nutritional Epigenetics.

背景与目标： ：新兴研究表明，饮食成分可以通过表观遗传机制影响基因表达。表观遗传修饰是基因表达中可遗传且潜在可逆的变化，不需要改变DNA序列。哺乳动物表观遗传控制的主要机制是DNA甲基化，组蛋白修饰和RNA沉默。表观遗传变化的潜在可逆性表明，它们可以被营养和生物活性食品化合物调节。因此，表观遗传修饰可以介导环境信号，并在癌症病因学中提供易感基因与环境因素之间的联系。阐明营养对表观遗传机制的影响可以用作预测个人对癌症的易感性，提供饮食建议或提供天然化合物治疗癌症的工具。化学预防作用的最佳持续时间和必要剂量需要进一步研究。关于饮食治疗的组织特异性和时间方面的信息有限。在解释各种模型的结果时，需要考虑物种差异。重要的是，应在人类干预研究中更详细地研究生物活性饮食成分的分子机制。尽管其中一些问题仍存在争议，但本综述主要侧重于有前途的数据，这些数据支持营养表观遗传学的发展领域。

BACKGROUND & AIMS: OBJECTIVES:To describe the US public health nutrition workforce and its future social, biological and fiscal challenges. DESIGN:Literature review primarily for the four workforce surveys conducted since 1985 by the Association of State and Territorial Public Health Nutrition Directors. SETTING:The United States. SUBJECTS:Nutrition personnel working in governmental health agencies. The 1985 and 1987 subjects were personnel in full-time budgeted positions employed in governmental health agencies providing predominantly population-based services. In 1994 and 1999 subjects were both full-time and part-time, employed in or funded by governmental health agencies, and provided both direct-care and population-based services. RESULTS:The workforce primarily focuses on direct-care services for pregnant and breast-feeding women, infants and children. The US Department of Agriculture funds 81.7 % of full-time equivalent positions, primarily through the WIC Program (Special Supplemental Nutrition Program for Women, Infants, and Children). Of those personnel working in WIC, 45 % have at least 10 years of experience compared to over 65 % of the non-WIC workforce. Continuing education needs of the WIC and non-WIC workforces differ. The workforce is increasingly more racially/ethnically diverse and with 18.2 % speaking Spanish as a second language. CONCLUSIONS:The future workforce will need to focus on increasing its diversity and cultural competence, and likely will need to address retirement within leadership positions. Little is known about the workforce's capacity to address the needs of the elderly, emergency preparedness and behavioural interventions. Fiscal challenges will require evidence-based practice demonstrating both costs and impact. Little is known about the broader public health nutrition workforce beyond governmental health agencies.

背景与目标： 目的：描述美国公共卫生营养工作人员及其未来的社会，生物和财政挑战。
设计：文献回顾主要针对自1985年以来由州和地区公共卫生营养总监协会进行的四次劳动力调查。
地点：美国。
主题：在政府卫生机构工作的营养人员。 1985年和1987年的受试者是政府卫生机构提供的全职预算职位的人员，主要提供基于人群的服务。在1994年和1999年，受试者均为全日制和非全日制，在政府卫生机构中受雇或受其资助，并提供直接护理和基于人群的服务。
结果：劳动力主要集中在为孕妇和哺乳期妇女，婴儿和儿童提供直接护理服务。美国农业部主要通过WIC计划（妇女，婴儿和儿童特殊补充营养计划）来资助全职同等职位的81.7％。在WIC工作的人员中，有45％具有至少10年的经验，而非WIC工作人员中有超过65％。 WIC和非WIC员工的继续教育需求有所不同。劳动力在种族/种族上越来越多样化，有18.2％的人说西班牙语作为第二语言。
结论：未来的劳动力将需要专注于增加其多样性和文化能力，并且可能将需要解决领导职位中的退休问题。对于劳动力满足老年人需求，应急准备和行为干预的能力知之甚少。财政挑战将需要基于证据的实践，以证明成本和影响。除政府卫生机构外，对更广泛的公共卫生营养工作人员知之甚少。

BACKGROUND & AIMS: OBJECTIVE:To investigate evolving food retail systems in Thailand. DESIGN:Rapid assessment procedures based on qualitative research methods including interviews, focus groups discussions and site visits. SETTING:Seven fresh markets located in the four main regions of Thailand. SUBJECTS:Managers, food specialists, vendors and shoppers from seven fresh markets who participated in interviews and focus group discussions. RESULTS:Fresh markets are under economic pressure and are declining in number. They are attempting to resist the competition from supermarkets by improving convenience, food diversity, quality and safety. CONCLUSIONS:Obesity has increased in Thailand at the same time as rapid growth of modern food retail formats has occurred. As fresh markets are overtaken by supermarkets there is a likely loss of fresh, healthy, affordable food for poorer Thais, and a diminution of regional culinary culture, women's jobs and social capital, with implications for the health and nutrition transition in Thailand.

背景与目标： 目的：调查泰国不断发展的食品零售系统。
设计：基于定性研究方法的快速评估程序，包括访谈，焦点小组讨论和实地考察。
地点：位于泰国四个主要地区的七个新鲜市场。
主题：来自七个新鲜市场的经理，食品专家，摊贩和购物者参加了访谈和焦点小组讨论。
结果：新鲜市场承受着经济压力，数量正在下降。他们试图通过提高便利性，食品多样性，质量和安全性来抵抗超市的竞争。
结论：随着现代食品零售业的快速发展，泰国的肥胖率也在增加。由于超市取代了新鲜市场，因此较贫穷的泰国人可能会损失新鲜，健康，负担得起的食物，区域烹饪文化，妇女的工作和社会资本的减少，这对泰国的健康和营养过渡产生了影响。

BACKGROUND & AIMS: BACKGROUND:The increased availability of computers and the efficiency and user-acceptability of computer-assisted questioning have increased the attractiveness of computer-administered querying for large-scale population nutrition research during the last decade. The Young Adolescents' Nutrition Assessment on Computer (YANA-C), a computer-based 24-h dietary recall, was originally developed to collect dietary data among Belgian-Flemish adolescents. A web-based version was created to collect parentally reported dietary data of preschoolers, called Young Children's Nutrition Assessment on the Web (YCNA-W), which has been improved and adapted for use in young adolescents: Children and Adolescents' Nutrition Assessment and Advice on the Web (CANAA-W). The present study describes recent developments and the formative evaluation of the dietary assessment component. METHODS:A feasibility questionnaire was completed by 131 children [mean (SD) age: 11.3 (0.7) years] and 53 parents. Eight focus groups were held with children (n = 65) and three with parents (n = 17). RESULTS:Children (C) and parents (P) found the instrument clear (C: 97%; P: 94%), comprehensible (C: 92%; P: 100%), attractive (C: 84%; P: 85%), fun (C: 93%; P: 83%) and easy to complete (C: 91%; P: 83%). There was ample explanation (C: 95%; P: 94%); the pictures were clear (C: 97%; P: 96%); and most respondents found the food items easy to find (C: 71%, P: 85%). The results helped to refine the lay out and structure of the instrument and the list of food items included. CONCLUSIONS:Children and parents were enthusiastic. The major challenge will be to convince parents who are less interested in dietary intake and less computer literate to participate in this type of study. Children in this age group (11-12 years) should complete the instrument with assistance from an adult.

背景与目标： 背景技术：在过去的十年中，计算机可用性的提高以及计算机辅助查询的效率和用户接受度提高了计算机管理查询对大规模人群营养研究的吸引力。基于计算机的24小时饮食召回青年计算机青年营养评估（YANA-C）最初是为了收集比利时佛兰德青少年的饮食数据而开发的。创建了一个基于网络的版本，以收集家长报告的学龄前儿童的饮食数据，称为网络上的幼儿营养评估（YCNA-W），该版本已得到改进并适用于青少年：儿童和青少年的营养评估和建议在网络上（CANAA-W）。本研究描述了饮食评估成分的最新发展和形成性评估。
方法：可行性研究问卷由131名儿童（平均（SD）年龄：11.3（0.7）岁）和53名父母完成。八个焦点小组由孩子（n = 65）和三个父母（n = 17）组成。
结果：儿童（C）和父母（P）发现仪器清晰（C：97％; P：94％），可理解（C：92％; P：100％），有吸引力（C：84％; P：85 ％），有趣（C：93％; P：83％）和易于完成（C：91％; P：83％）。有足够的解释（C：95％； P：94％）；图片清晰（C：97％； P：96％）；大多数受访者认为这些食物很容易找到（C：71％，P：85％）。结果有助于完善仪器的布局和结构以及所含食品的清单。
结论：儿童和父母都很热情。主要的挑战将是说服对饮食摄入不感兴趣和计算机知识较少的父母参加这种类型的研究。此年龄段（11-12岁）的儿童应在成人的协助下完成仪器的安装。

BACKGROUND & AIMS: :"Outings to Your Taste" is an innovative program that aims to improve the nutritional status and social network of elderly people who receive home-delivered meals. This article examines participation in one of the program's components, outings to community restaurants. Participation data were collected on-site and information about client characteristics was collected in at-home interview surveys of targeted clients (n = 144). While about half of the clients had tried at least one outing, more than 25% of them participated in at least one third of the outings offered to them. Results indicate that the program attracted a variety of clients in terms of sociodemographic, health, and social isolation characteristics.

背景与目标： ：“外出品尝”是一项创新计划，旨在改善接受家庭送餐的老年人的营养状况和社交网络。本文考察了该程序的组成部分之一的参与情况，即社区餐馆的郊游。现场收集参与数据，并在针对目标客户的家庭访问调查中收集有关客户特征的信息（n = 144）。虽然大约一半的客户尝试了至少一次郊游，但其中超过25％的人至少参与了提供给他们的郊游的三分之一。结果表明，该计划在社会人口统计学，健康状况和社会隔离特征方面吸引了各种各样的客户。

BACKGROUND & AIMS: BACKGROUND:We suggested that the continuous translocation of endotoxin from Gram-negative bacterial overgrowth during bowel rest and total parenteral nutrition (TPN) causes the release of tumor necrosis factor (TNF), resulting in liver damage and hepatic dysfunction. Because TPN-induced hepatic steatosis was significantly reduced by the monoclonal antibodies against TNF, we attempted a more clinically applicable approach using pentoxifylline and thalidomide. METHODS:A control group (group I) fed rat chow and four groups of rats receiving TPN were studied. Group II received TPN only; group III, TPN and 100 mg/kg/d pentoxifylline; group IV, TPN and 200 mg/kg/d pentoxifylline; and group V, TPN and 5 mg/kg/d thalidomide. On day 7, total liver fat was determined. RESULTS:Bowel rest and TPN resulted in a significant (p < .0005) increase in liver fat content that was unaltered by either pentoxifylline or thalidomide. CONCLUSIONS:Our results show no role for pentoxifylline or thalidomide in reducing TPN-associated hepatic steatosis.

背景与目标： 背景：我们建议肠道休息和全胃肠外营养（TPN）期间革兰氏阴性细菌过度生长引起的内毒素的连续移位会导致肿瘤坏死因子（TNF）的释放，从而导致肝损伤和肝功能障碍。由于针对TNF的单克隆抗体可显着降低TPN诱导的肝脂肪变性，因此我们尝试使用己酮可可碱和沙利度胺进行临床治疗。
方法：对对照组（I组）喂食大鼠食物和四组接受TPN的大鼠进行研究。第二组仅收到TPN； III组，TPN和100 mg / kg / d己酮可可碱; IV组，TPN和200 mg / kg / d己酮可可碱; V组，TPN和5 mg / kg / d沙利度胺。在第7天，测定总肝脂肪。
结果：大便休息和TPN导致肝脂肪含量显着增加（p <.0005），而己酮可可碱或沙利度胺均未改变。
结论：我们的结果显示己酮可可碱或沙利度胺在减少TPN相关性肝脂肪变性中没有作用。

BACKGROUND & AIMS: At the Unit of Nutritional Rehabilitation of La Plata Children's Hospital "Sor María Ludovica" an inventory was designed to observe in outpatient clinics certain behaviors allowing an early detection of disorders in mother-child link. We evaluate a sample of 50 mothers with their children between 1 and 24 months presenting moderate or severe undernutrition of primary cause, as well as 50 mothers with their children of the same age, sex, social and economical level of the experimental group who never presented undernutrition. This inventory, which has the following parts, was applied1) verbal maternal behaviour, 2) affective maternal behavior, 3) child's hygiene, 4) stimulation of development, 5) participation of other persons in child's care, 6) consistency between mother's discourse and attitudes. The inventory has been sensitive to the proposed objective, showing a highly significant difference when correlate mother-well nourished child and mother-undernourished child.

背景与目标： 拉普拉塔儿童医院“ SorMaríaLudovica”的营养康复科设计了一个清单，目的是在门诊诊所观察某些行为，以便及早发现母婴联系方面的疾病。我们评估了50名母亲在1至24个月内表现出中度或严重营养不良的母亲的样本，以及50名母亲与他们的年龄，性别，社会和经济水平相同但从未出现过的实验组的母亲营养不良。该清单包括以下部分：1）口头的孕产妇行为，2）情感的孕产妇行为，3）儿童的卫生，4）促进发育，5）其他人参与儿童保育，6）母亲的话语与态度。该清单对拟议的目标很敏感，当将母亲营养丰富的孩子和母亲营养不良的孩子相关联时，清单显示出非常显着的差异。

BACKGROUND & AIMS: :Face processing in mothers is linked to mother-infant social communication, which is critical for parenting and in turn for child development. Neuroimaging studies of child maltreatment-exposed (CME) mothers are sparse compared to studies of mothers with postpartum depression, which have suggested blunted amygdala reactivity to infant stimuli. We expected to see a similar pattern in CME mothers. Based on broader studies in trauma-exposed populations, we anticipated increased amygdala reactivity to negative adult face stimuli in a comparison task in CME mothers given heightened evaluation of potential threat. We examined Neuroimaging studies of mothers with childhood maltreatment exposure (CME) (18-37 years old), who performed infant (N = 45) and/or adult (N = 46) face processing tasks. CME mothers exhibited blunted bilateral amygdala reactivity to infant faces. There was no between-group difference in amygdala reactivity to adult faces. In infant and adult face processing tasks regardless of CME, superior temporal gyrus activation was increased for negative-valence stimuli. Our preliminary findings suggest that childhood maltreatment alters maternal processing of infant social cues, a critical skill impacting infant socioemotional development.

背景与目标： ：母亲的脸部处理与母婴社会沟通有关，这对于养育子女和继而对孩子的成长至关重要。与对产后抑郁症母亲的研究相比，对遭受儿童虐待的母亲的神经影像学研究稀疏，这表明杏仁核对婴儿刺激的反应迟钝。我们希望在继续医学教育的母亲中也能看到类似的情况。根据对遭受创伤的人群进行的更广泛研究，我们预期在CME母亲的比较任务中，鉴于潜在威胁的评估增加，杏仁核对成年面部负刺激的反应性会增加。我们检查了患有儿童虐待（CME）（18-37岁）的母亲的神经影像学研究，这些母亲执行了婴儿（N = 45）和/或成人（N = 46）的面部处理任务。芝商所的母亲表现出对婴儿脸的双侧杏仁核反应迟钝。杏仁核对成年面部的反应性没有组间差异。在不考虑CME的婴儿和成人面部处理任务中，针对负价刺激增加了上颞颞回激活。我们的初步发现表明，儿童期虐待改变了母亲对婴儿社交线索的处理，这是影响婴儿社会情感发展的一项关键技能。

BACKGROUND & AIMS: :Metabolic responses to food influence risk of cardiometabolic disease, but large-scale high-resolution studies are lacking. We recruited n = 1,002 twins and unrelated healthy adults in the United Kingdom to the PREDICT 1 study and assessed postprandial metabolic responses in a clinical setting and at home. We observed large inter-individual variability (as measured by the population coefficient of variation (s.d./mean, %)) in postprandial responses of blood triglyceride (103%), glucose (68%) and insulin (59%) following identical meals. Person-specific factors, such as gut microbiome, had a greater influence (7.1% of variance) than did meal macronutrients (3.6%) for postprandial lipemia, but not for postprandial glycemia (6.0% and 15.4%, respectively); genetic variants had a modest impact on predictions (9.5% for glucose, 0.8% for triglyceride, 0.2% for C-peptide). Findings were independently validated in a US cohort (n = 100 people). We developed a machine-learning model that predicted both triglyceride (r = 0.47) and glycemic (r = 0.77) responses to food intake. These findings may be informative for developing personalized diet strategies. The ClinicalTrials.gov registration identifier is NCT03479866.

背景与目标： 食物代谢反应影响心脏代谢疾病的风险，但缺乏大规模的高分辨率研究。我们在英国招募了n = 1002的双胞胎和无关的健康成年人参加PREDICT 1研究，并在临床和在家中评估了餐后代谢反应。我们观察到在同一餐后血液中甘油三酸酯（103％），葡萄糖（68％）和胰岛素（59％）的餐后反应中存在较大的个体间差异（通过群体变异系数（标准偏差/平均值，％）衡量）。餐后脂肪血症的人特异性因素（如肠道微生物组）的影响（膳食中的大量营养素（3.6％））比餐后营养素（3.6％）的影响更大，而餐后血糖的影响则不大（分别为6.0％和15.4％）；遗传变异对预测的影响不大（葡萄糖为9.5％，甘油三酸酯为0.8％，C肽为0.2％）。研究结果在美国队列中独立验证（n = 100人）。我们开发了一种机器学习模型，该模型可以预测甘油三酸酯（r = 0.47）和血糖（r = 0.77）对食物摄入的反应。这些发现可能有助于制定个性化的饮食策略。 ClinicalTrials.gov的注册标识符为NCT03479866。

BACKGROUND & AIMS: :The objective of the present study was to examine the associations between the portion sizes of food groups consumed with measures of adiposity using data from the National Diet and Nutrition Survey of British adults. Seven-day weighed dietary records, physical activity diaries and anthropometric measurements were used. Foods eaten were assigned to thirty different food groups and analyses were undertaken separately for men and women. The median daily portion size of each food group consumed was calculated. The potential mis-reporting [corrected] of dietary energy intake (EI) was identified using the following equation: EI--estimated energy requirements/EER [corrected] x 100 = percentage of under-reporting (UR) of energy needs. Multinomial logistic regression (adjusted for age, social class, physical activity level and UR) was used to determine the portion sizes of food groups most strongly associated with obesity status. Few positive associations between the portion sizes of food groups consumed and obesity status were found. However, UR was prevalent, with a median UR of predicted energy needs of 34 and 33 % in men and women, respectively. After the adjustment was made for UR, more associations between the food groups and obesity status became apparent in both sexes. The present study suggests that the true effect of increased portion size of foods on obesity status may be masked by high levels of UR. Alternatively, these data may indicate that an increased risk of obesity is not associated with specific foods/food groups but rather with an overall increase in the range of foods and food groups being consumed.

背景与目标： ：本研究的目的是使用英国成年人的国家饮食和营养调查所提供的数据，通过肥胖测量来检验食用的食物组的份量之间的关联。使用7天称重的饮食记录，体力活动日记和人体测量值。食用的食物被分配到30个不同的食物组中，并且分别对男性和女性进行了分析。计算了每个食用食物组的中位数每日份量。饮食能量摄入（EI）的潜在错误报告[校正]使用以下公式确定：EI-估计能量需求/ EER [校正] x 100 =能量需求报告不足（UR）的百分比。使用多项式逻辑回归（根据年龄，社会阶层，体育活动水平和UR进行调整）来确定与肥胖状况最相关的食物组的份量。在食用的食物类别的份量与肥胖状况之间几乎没有正相关。但是，UR普遍存在，男性和女性的预期能量需求中值UR分别为34％和33％。在对UR进行调整后，两性之间的食物组与肥胖状况之间的联系更加明显。本研究表明，高比例的尿素可能掩盖了食物份量增加对肥胖状况的真正影响。或者，这些数据可能表明肥胖的风险增加与特定食品/食物类别无关，而与所食用的食品和食物类别范围的总体增加有关。

BACKGROUND & AIMS: :The aim of the current work was to evaluate the physicochemical, rheological, molecular, thermal and sensory properties of complementary food (CF) formulations prepared with quinoa (Chenopodium quinoa Willd.) flour (QF). It was observed that QF addition significantly affected the physicochemical and rheological properties of CF formulations, resulting in higher protein and crude fiber, but lower total sugar contents and increased storage (G') and loss (G″) modulus values. The glass transition temperature decreased due to QF addition. The FTIR spectra revealed the presence of aromatic amino acids derived from QF. GC, GC-MS and GC-O analyses revealed the presence of 50 aroma and 23 aroma-active compounds, among which aldehydes, alcohols and ketones were the most prevalent group of compounds. The formulation with 8% QF received the highest sensory scores. QF could be used to improve the physicochemical, rheological, thermal and sensory properties of CF products.

背景与目标： ：当前工作的目的是评估用藜麦（藜麦藜麦（Chenopodium quinoa Willd。））面粉（QF）制备的辅食（CF）制剂的理化，流变，分子，热和感官特性。观察到QF的添加显着影响CF制剂的物理化学和流变性质，导致更高的蛋白质和粗纤维，但是更低的总糖含量以及增加的储能（G'）和损失（G''）模量值。由于添加了QF，玻璃化转变温度降低了。 FTIR光谱显示存在源自QF的芳香族氨基酸。 GC，GC-MS和GC-O分析显示存在50种香气和23种香气活性化合物，其中醛，醇和酮是最常见的化合物。 QF为8％的配方获得最高的感官评分。 QF可用于改善CF产品的理化，流变，热和感官性能。

BACKGROUND & AIMS: BACKGROUND:Diagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions. CASE PRESENTATION:We report a male infant born with multiple anomalies including bilateral dysplastic kidneys, cleft palate, bilateral talipes, and bilateral absence of thumbs and first toes. Prenatal testing including chromosome analysis and microarray did not identify a cause for the multiple congenital anomalies. Postnatal diagnostic exome studies (DES) were utilized to find a molecular diagnosis for the patient. Exome sequencing of the proband, mother, and father showed a previously unreported maternally inherited RNA binding motif protein 10 (RBM10) c.1352_1353delAG (p.E451Vfs*66) alteration. Mutations in RBM10 are associated with TARP syndrome, an X-linked recessive disorder originally described with cardinal features of talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava. CONCLUSION:DES established a molecular genetic diagnosis of TARP syndrome for a neonatal patient with a poor prognosis in whom traditional testing methods were uninformative and allowed for efficient diagnosis and future reproductive options for the parents. Other reported cases of TARP syndrome demonstrate significant variability in clinical phenotype. The reported features in this infant including multiple hemivertebrae, imperforate anus, aplasia of thumbs and first toes have not been reported in previous patients, thus expanding the clinical phenotype for this rare disorder.

背景与目标： 背景：外显子诊断测序（DES）已被证明是诊断患有可疑遗传疾病的个体的有效工具。
病例介绍：我们报告了一个男婴，其出生时有多种异常，包括双侧发育不良的肾脏，left裂，双侧滑石和双侧拇指和第一脚趾缺失。包括染色体分析和微阵列在内的产前检查并未发现多种先天性异常的原因。产后诊断外显子组研究（DES）用于为患者寻找分子诊断。先证者，母亲和父亲的外显子组测序显示以前未报告的母体遗传RNA结合基序蛋白10（RBM10）c.1352_1353delAG（p.E451Vfs * 66）改变。 RBM10中的突变与TARP综合征有关，TARP综合征是一种X连锁隐性疾病，最初被描述为具有等角锥虫，房间隔缺损，Robin序列和持续性左上腔静脉的基本特征。
结论：DES为预后不良的新生儿建立了TARP综合征的分子遗传学诊断，该患者传统的检测方法无法提供信息，并且可以为父母提供有效的诊断和未来的生育选择。其他报道的TARP综合征病例在临床表型上显示出显着的变异性。先前的患者尚未报道该婴儿的报道特征，包括多发性半椎，肛门无孔，拇指发育不全和第一脚趾发育不全，因此扩大了这种罕见疾病的临床表型。