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Natural history study of Pseudoachondroplasia: A focus on oral health 假性软骨发育不良的自然史研究:关注口腔健康。
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-07-17 DOI: 10.1002/bdr2.2378
Omkar Patel, S. Shahrukh Hashmi, Brett Chiquet, Jacqueline T. Hecht

Background

Pseudoachondroplasia (PSACH) is a rare dwarfing condition characterized by short limbs and fingers, and multiple skeletal abnormalities/complications. There are few natural history studies delineating the medical problems in PSACH leaving a gap in many areas, especially oral health. Our study aimed to obtain information pertaining to oral health and other health-related problems (pregnancy and childbirth, skeletal health, joint pain) in patients with PSACH.

Methods

To ascertain this information, an online Qualtrics survey was distributed to members of Little People of America, a support group, and through a PSACH online chatroom.

Results

Ninety-nine of 115 surveys were completed and included in the descriptive and multivariable analyses. PSACH individuals regularly sought dental care, but flossing was challenging because of short fingers. Untreated carries (5%), bleeding gums (16%) malocclusion (37%), obstructive sleep apnea (9%), and TMJ disorder (3%) occurred less frequently compared to the general population. Delivery was by Caesarean section in 100% of female respondents who delivered a baby. Bowlegs (74%), scoliosis (43%) and osteoarthritis (36%) were the most common skeletal complications. Joint pain was reported by 85% of respondents.

Conclusions

This study provides novel insights into oral health, pregnancy and childbirth while confirming previously identified skeletal complications in PSACH. Our findings suggest that oral healthcare in PSACH presents unique challenges.

背景:假性软骨发育不良(PSACH)是一种罕见的侏儒症,以四肢和手指短小、多种骨骼异常/并发症为特征。有关假性软骨发育不全(PSACH)患者医疗问题的自然史研究很少,这在许多领域,尤其是口腔健康方面留下了空白。我们的研究旨在获取 PSACH 患者口腔健康和其他健康相关问题(怀孕和分娩、骨骼健康、关节疼痛)的相关信息:为了确定这些信息,我们向 "美国小伙伴"(一个互助小组)的成员分发了一份在线Qualtrics调查问卷,并通过PSACH在线聊天室进行了调查:结果:115 份调查中有 99 份完成,并纳入了描述性分析和多变量分析。PSACH患者经常寻求牙科治疗,但由于手指短,使用牙线很困难。与普通人群相比,龋齿(5%)、牙龈出血(16%)、咬合不正(37%)、阻塞性睡眠呼吸暂停(9%)和颞下颌关节紊乱(3%)的发生率较低。在分娩的女性受访者中,100% 的人都是通过剖腹产分娩的。弓形腿(74%)、脊柱侧弯(43%)和骨关节炎(36%)是最常见的骨骼并发症。85%的受访者报告了关节疼痛:这项研究为口腔健康、怀孕和分娩提供了新的视角,同时证实了之前在 PSACH 中发现的骨骼并发症。我们的研究结果表明,PSACH 患者的口腔保健面临着独特的挑战。
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引用次数: 0
New classification of the penoscrotal positional anomalies 阴茎阴囊位置异常的新分类。
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-07-13 DOI: 10.1002/bdr2.2376
Mohamed A. Baky Fahmy, Ayman Altramsy, Mohammed Abdel-Latif M. Ayad

Background

The aspect of sexual differentiation and the mechanism controlling the position of genitalia, which represents one of the most substantial differences between the sexes, is still poorly understood. Minor cases and some variants of penoscrotal transposition (PST) are unreported, and obvious cases were classified broadly and confused with other unrelated anomalies.

Methodology

Relevant literature published till 2022 were reviewed then organized, recapitulated, and presented in comparison with the findings and data of 65 child diagnosed with PST. So, an integrated comprehensive approach to this uncommon condition enabled a new classification including few unreported variant cases, which were complemented.

Results

PST is classified herein into a cephalic or caudal scrotal migration, the cephalic type subdivided into major and minor subtypes the latter type subdivided into bilateral, unilateral or central subtypes. Cases of caudal scrotal regression is an unreported anomaly in which the scrotum located caudally, as constant association with epispadias/exstrophy anomalies leaving a wide distance between the fixed penis and the scrotal sacs.

Conclusion

PST is not rare as it was believed, it occurs in two directions; cephalic and caudal directions. Scrotal caudal regression anomaly was not described before, as well the PST presented as an inguinal hernia.

背景:性分化和控制生殖器位置的机制是两性之间最显著的差异之一,但人们对这一问题的了解仍然很少。阴茎阴囊转位(PST)的轻微病例和一些变异病例未见报道,明显的病例被笼统归类,并与其他无关的异常病例混淆:方法:对截至 2022 年发表的相关文献进行回顾,然后进行整理、概括,并与 65 例确诊为 PST 的患儿的研究结果和数据进行对比。因此,对这一罕见病症的综合全面的方法使得新的分类方法成为可能,其中包括一些未报道的变异病例,并对其进行了补充:结果:PST 在此被分为头侧或阴囊尾侧移位,头侧移位又分为主要亚型和次要亚型,后者又分为双侧、单侧或中央亚型。阴囊尾端回缩是一种未报告的异常情况,阴囊位于尾端,与阴茎外展/萎缩异常常伴有关联,在固定的阴茎和阴囊之间留有较宽的距离:PST并不像人们认为的那样罕见,它发生在两个方向:头侧和尾侧。阴囊尾部回缩异常以前从未被描述过,PST也表现为腹股沟疝。
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引用次数: 0
Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study 外显子组测序在全国出生缺陷预防研究中发现了原发性先天性青光眼的新基因。
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-07-11 DOI: 10.1002/bdr2.2384
Elizabeth E. Blue, Kristin J. Moore, Kari E. North, Tania A. Desrosiers, Suzan L. Carmichael, Janson J. White, Jessica X. Chong, Michael J. Bamshad, Mary M. Jenkins, Lynn M. Almli, Lawrence C. Brody, Sharon F. Freedman, Jennita Reefhuis, Paul A. Romitti, Gary M. Shaw, Martha Werler, Denise M. Kay, Marilyn L. Browne, Marcia L. Feldkamp, Richard H. Finnell, Wendy N. Nembhard, Faith Pangilinan, Andrew F. Olshan, the National Institutes of Health Intramural Sequencing Center, the University of Washington Center for Mendelian Genomics, the National Birth Defects Prevention Study

Background

Primary congenital glaucoma (PCG) affects approximately 1 in 10,000 live born infants in the United States (U.S.). PCG has a autosomal recessive inheritance pattern, and variable expressivity and reduced penetrance have been reported. Likely causal variants in the most commonly mutated gene, CYP1B1, are less prevalent in the U.S., suggesting that alternative genes may contribute to the condition. This study utilized exome sequencing to investigate the genetic architecture of PCG in the U.S. and to identify novel genes and variants.

Methods

We studied 37 family trios where infants had PCG and were part of the National Birth Defects Prevention Study (births 1997–2011), a U.S. multicenter study of birth defects. Samples underwent exome sequencing and sequence reads were aligned to the human reference sample (NCBI build 37/hg19). Variant filtration was conducted under de novo and Mendelian inheritance models using GEMINI.

Results

Among candidate variants, CYP1B1 was most represented (five trios, 13.5%). Twelve probands (32%) had potentially pathogenic variants in other genes not previously linked to PCG but important in eye development and/or to underlie Mendelian conditions with potential phenotypic overlap (e.g., CRYBB2, RXRA, GLI2).

Conclusion

Variation in the genes identified in this population-based study may help to further explain the genetics of PCG.

背景:在美国,大约每 10,000 名活产婴儿中就有一名患有原发性先天性青光眼(PCG)。PCG 具有常染色体隐性遗传模式,有报道称该病症具有不同的表现性和较低的渗透性。在美国,最常见突变基因 CYP1B1 的可能致病变异较少,这表明替代基因可能是导致该病的原因。本研究利用外显子测序技术调查了美国 PCG 的遗传结构,并确定了新的基因和变体:我们研究了 37 个婴儿患有 PCG 的三人家庭,这些家庭是美国出生缺陷多中心研究 "全国出生缺陷预防研究"(National Birth Defects Prevention Study,1997-2011 年出生)的一部分。样本进行了外显子组测序,序列读数与人类参考样本(NCBI build 37/hg19)进行了比对。使用 GEMINI 在从头遗传和孟德尔遗传模型下进行变异筛选:在候选变异中,CYP1B1 的代表性最高(5 个三联变异,占 13.5%)。有 12 名疑似患者(32%)的其他基因(如 CRYBB2、RXRA、GLI2 等)存在潜在的致病变异,这些基因以前与 PCG 没有关联,但对眼部发育很重要,而且/或者是孟德尔遗传病的基础,具有潜在的表型重叠:结论:这项基于人群的研究中发现的基因变异可能有助于进一步解释 PCG 的遗传学。
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引用次数: 0
Intrauterine growth in chromatinopathies: A long road for better understanding and for improving clinical management 染色质病的宫内生长:为更好地理解和改进临床管理,任重而道远。
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-07-10 DOI: 10.1002/bdr2.2383
Laura Avagliano, Silvia Castiglioni, Antonella Lettieri, Chiara Parodi, Elisabetta Di Fede, Esi Taci, Paolo Grazioli, Elisa Adele Colombo, Cristina Gervasini, Valentina Massa

Background

Chromatinopathies are a heterogeneous group of genetic disorders caused by pathogenic variants in genes coding for chromatin state balance proteins. Remarkably, many of these syndromes present unbalanced postnatal growth, both under- and over-, although little has been described in the literature. Fetal growth measurements are common practice in pregnancy management and values within normal ranges indicate proper intrauterine growth progression; on the contrary, abnormalities in intrauterine fetal growth open the discussion of possible pathogenesis affecting growth even in the postnatal period.

Methods

Among the numerous chromatinopathies, we have selected six of the most documented in the literature offering evidence about two fetal overgrowth (Sotos and Weaver syndrome) and four fetal undergrowth syndromes (Bohring Opitz, Cornelia de Lange, Floating-Harbor, and Meier Gorlin syndrome), describing their molecular characteristics, maternal biochemical results and early pregnancy findings, prenatal ultrasound findings, and postnatal characteristics.

Results/Conclusion

To date, the scarce data in the literature on prenatal findings are few and inconclusive, even though these parameters may contribute to a more rapid and accurate diagnosis, calling for a better and more detailed description of pregnancy findings.

背景:染色质病是由编码染色质状态平衡蛋白的基因中的致病变异引起的一组异质性遗传疾病。值得注意的是,这些综合征中的许多病例在出生后都会出现生长不平衡的现象,包括生长不足和生长过快,但文献中对此描述甚少。胎儿生长测量是孕期管理的常用方法,测量值在正常范围内表明胎儿在宫内生长发育正常;相反,胎儿在宫内生长发育异常则可能影响胎儿在出生后的生长发育:在众多染色质病中,我们选择了文献中记载最多的六种,提供了有关两种胎儿发育过度综合征(Sotos 和 Weaver 综合征)和四种胎儿发育不全综合征(Bohring Opitz、Cornelia de Lange、Floating-Harbor 和 Meier Gorlin 综合征)的证据,描述了它们的分子特征、母体生化结果和孕早期发现、产前超声检查结果以及产后特征:迄今为止,有关产前检查结果的文献数据很少,也没有定论,尽管这些参数可能有助于更快速、准确地诊断,但仍需要对妊娠结果进行更好、更详细的描述。
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引用次数: 0
Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism SLC25A24 方丹早衰综合征的产前诊断:描述胎儿表型、基因型和检测亲本嵌合。
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-07-09 DOI: 10.1002/bdr2.2380
Emmanuelle Pannier, Abel Sekri, Nathalie Roux, Alexandre Vasiljevic, Laïla El Khattabi, Nicolas Chatron, Sarah Grotto, Delphine Menzella, Gilles Grangé, Florent Thébault, Jérôme Massardier, Cécile Fourrage, Laurence Lohmann, Vassilis Tsatsaris, Audrey Putoux, Lucile Boutaud, Tania Attié-Bitach

Background

Fontaine progeroid syndrome (FPS, OMIM 612289) is a recently identified genetic disorder stemming from pathogenic variants in the SLC25A24 gene, encoding a mitochondrial carrier protein. It encompasses Gorlin–Chaudry–Moss syndrome and Fontaine–Farriaux syndrome, primarily manifesting as craniosynostosis with brachycephaly, distinctive dysmorphic facial features, hypertrichosis, severe prenatal and postnatal growth restriction, limb shortening, and early aging with characteristic skin changes, phalangeal anomalies, and genital malformations.

Cases

All known occurrences of FPS have been postnatally observed until now. Here, we present the first two prenatal cases identified during the second trimester of pregnancy. While affirming the presence of most postnatal abnormalities in prenatal cases, we note the absence of a progeroid appearance in young fetuses. Notably, our reports introduce new phenotypic features like encephalocele and nephromegaly, which were previously unseen postnatally. Moreover, paternal SLC25A24 mosaicism was detected in one case.

Conclusions

We present the initial two fetal instances of FPS, complemented by thorough phenotypic and genetic assessments. Our findings expand the phenotypical spectrum of FPS, unveiling new fetal phenotypic characteristics. Furthermore, one case underscores a potential novel inheritance pattern in this disorder. Lastly, our observations emphasize the efficacy of exome/genome sequencing in both prenatal and postmortem diagnosis of rare polymalformative syndromes with a normal karyotype and array-based comparative genomic hybridization (CGH).

背景:方丹早衰综合征(FPS,OMIM 612289)是最近发现的一种遗传性疾病,源于编码线粒体载体蛋白的 SLC25A24 基因的致病变异。它包括戈林-考德里-莫斯综合征(Gorlin-Chaudry-Moss Syndrome)和方丹-法瑞奥综合征(Fontaine-Farriaux Syndrome),主要表现为颅骨发育不良伴颅骨畸形、明显的面部畸形、多毛症、严重的产前和产后生长受限、肢体短小、早衰并伴有特征性皮肤改变、趾骨异常和生殖器畸形:迄今为止,所有已知的 FPS 病例都是在出生后观察到的。在此,我们介绍了在妊娠后三个月发现的首两例产前病例。在肯定产前病例存在大多数产后畸形的同时,我们注意到在年幼胎儿中没有出现早衰表现。值得注意的是,我们的报告引入了新的表型特征,如颅脑和肾脏畸形,这在以前的产后病例中是从未见过的。此外,在一个病例中还检测到父系SLC25A24嵌合:结论:我们首次发现了两例 FPS 胎儿病例,并对其进行了全面的表型和遗传评估。我们的研究结果扩展了FPS的表型谱,揭示了新的胎儿表型特征。此外,其中一个病例强调了这种疾病潜在的新型遗传模式。最后,我们的观察结果强调了外显子组/基因组测序在产前和死后诊断具有正常核型和基于阵列的比较基因组杂交(CGH)的罕见多畸形综合征中的有效性。
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引用次数: 0
Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report 与GDF1和NOTCH1基因变异相关的部分房室管缺损和主动脉闭锁:病例报告。
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-07-08 DOI: 10.1002/bdr2.2382
Carolina Putotto, Marco Masci, Monia Magliozzi, Antonio Novelli, Bruno Marino, Maria Cristina Digilio, Alessandra Toscano

Background

A peculiar subgroup of patients with partial or complete atrioventricular canal defect exhibits a spectrum of left-sided obstructions including right ventricular dominance and aortic coarctation. The association of atrioventricular canal defect with left-sided obstructions is found in several genetic syndromes; however, the molecular basis of nonsyndromic atrioventricular canal defect with aortic coarctation is still poorly understood. Although some candidate genes for nonsyndromic atrioventricular canal defect are known, a complex oligogenic inheritance determined in some cases by the co-occurrence of multiple variants has also been hypothesized.

Case Report

We describe a nonsyndromic infant with mesocardia with viscero-atrial situs solitus, partial atrioventricular canal defect, mild right ventricular dominance, and coarctation of the aorta. Next generation sequencing genetic testing revealed variants in two genes, GDF1 and NOTCH1, previously reported in association with atrioventricular canal defect and left-sided obstructive lesions, respectively.

Conclusion

The present report could support the hypothesis that the co-occurrence of cumulative variants may be considered as genetic predisposing risk factor for specific congenital heart defects.

背景:部分或完全性房室管缺损患者中的一个特殊亚群表现出一系列左侧梗阻,包括右室优势和主动脉瓣闭锁。房室管缺损与左侧梗阻的关联在几种遗传综合征中都有发现;然而,非综合征性房室管缺损伴主动脉瓣闭锁的分子基础仍不甚明了。虽然非综合征房室管缺损的一些候选基因已经知道,但也有人假设在某些病例中,多种变异基因的共同出现决定了复杂的寡基因遗传:病例报告:我们描述了一名非综合征婴儿,他患有间质性心肌炎伴内脏-心房坐位、部分房室管缺损、轻度右室优势和主动脉共动脉症。下一代测序基因检测发现了两个基因的变异,即GDF1和NOTCH1,以前曾有报道称这两个基因分别与房室管缺损和左侧梗阻性病变有关:本报告支持这样的假设,即累积变异的共同出现可被视为特定先天性心脏缺陷的遗传易感风险因素。
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引用次数: 0
Effects of agmatine on radial-arm maze memory performance and autistic-like behaviors in a male rat model of autism 鸦胆子碱对自闭症雄性大鼠径向臂迷宫记忆能力和类似自闭症行为的影响
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-07-03 DOI: 10.1002/bdr2.2379
Mahdieh Parvan, Masoumeh Nozari, Mohammad Shabani, Hojat Nozari, Kristi Anne Kohlmeier, Somayeh Mohammadi

Background

Autism spectrum disorder (ASD) is the fastest-growing child neuropsychiatric condition. Cognitive dysfunctions such as memory impairments are experienced by patients along with social disturbances and repetitive/stereotypic movements. We have used the radial arm maze (RAM), for measurement of working and reference memory errors in an animal model of autism. In addition, the potential effects of agmatine, an endogenous NMDA antagonist, on RAM performance and autistic-like behaviors were assessed.

Methods

Autism was modeled by valproic acid (VPA) administration at gestational Day 12.5. Autism-associated behaviors in male offspring were examined in an open field test (OFT) and three-chambered test (TCT) on postnatal days 50–51. Thereafter, the animals were trained in the RAM (PND 55) until they attained the criteria of 80% correct choices during five consecutive trials. Forty-eight hours after the acquisition of criteria, agmatine was injected 30 min before subsequent behavioral testing, which included the retention phase of the RAM, OFT, and TCT.

Results

VPA-treated and intact rats showed the same performance in RAM, and acute injection of agmatine rescued social and anxiety-like behavior induced by VPA without the effect on RAM.

Conclusion

In a rat model of autism, spatial learning, and memory did not change. Agmatine rescued social and anxiety-like behavior in autistic animals.

背景:自闭症谱系障碍(ASD)是增长最快的儿童神经精神疾病。患者会出现认知功能障碍,如记忆障碍、社交障碍和重复/刻板动作。我们利用径向臂迷宫(RAM)测量自闭症动物模型的工作记忆和参考记忆错误。此外,我们还评估了内源性 NMDA 拮抗剂阿加马丁对 RAM 表现和自闭症样行为的潜在影响:方法:在妊娠第 12.5 天服用丙戊酸(VPA)来模拟自闭症。在出生后第 50-51 天,通过开阔地试验(OFT)和三腔试验(TCT)检测雄性后代的自闭症相关行为。此后,对动物进行RAM(出生后第55天)训练,直到它们在连续五次试验中达到80%正确选择的标准。获得标准48小时后,在随后的行为测试(包括RAM、OFT和TCT的保持阶段)前30分钟注射阿加马丁:结果:经 VPA 处理的大鼠和完好无损的大鼠在 RAM 中表现出相同的表现,急性注射阿马汀可挽救 VPA 引起的社交和焦虑行为,但对 RAM 没有影响:结论:在自闭症大鼠模型中,空间学习和记忆没有发生变化。结论:在自闭症大鼠模型中,空间学习和记忆没有发生变化,而阿马汀能挽救自闭症动物的社交和焦虑行为。
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引用次数: 0
Genitourinary infection and gastroschisis: A systematic review and meta-analysis 泌尿生殖系统感染与胃畸形:系统回顾和荟萃分析。
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-06-30 DOI: 10.1002/bdr2.2377
Raya Vinogradov, Annie Muthupunnackal, Malcolm Moffat, Judith Rankin

Background

Gastroschisis is a congenital anomaly of the umbilical ring with increasing prevalence, especially amongst younger mothers. There is increasing evidence that exposure to genitourinary infections (GUTI) may play an important role in the etiology of gastroschisis. This systematic review and meta-analysis aimed to identify, appraise, and summarize the literature on exposure to GUTI and gastroschisis.

Methods

Six electronic databases (MEDLINE, EMBASE, Web of Science, Scopus, Cochrane Library electronic databases, and Prospero) were searched using a comprehensive search strategy. Citations and cited articles for all included studies were searched. Peer-reviewed, quantitative studies reporting an association of urinary tract infections (UTI) and/or sexually transmitted infections (STI) with gastroschisis were included. Prospero registration CRD42022377420.

Results

A total of 2392 papers were identified via the searches of which 15 met our inclusion criteria and were included after title and abstract and full text screening. The study period for included studies ranged from 1995 to 2016, most were from the USA. Four studies considering exposure to STIs and five to UTIs were eligible to progress to meta-analysis. Meta-analysis identified a significantly increased risk of gastroschisis in association with periconceptional exposure to UTI [OR 1.54 (95% CI 1.29, 1.8)], STI [OR 1.4 (95% CI 1.01, 1.79)].

Conclusions

Periconceptional exposure to GUTI is associated with an increased risk of gastroschisis. The prevention and timely treatment of GUTI amongst women of childbearing age may help to reduce the occurrence of gastroschisis.

背景:胃裂是一种先天性脐环畸形,发病率越来越高,尤其是在年轻母亲中。越来越多的证据表明,泌尿生殖系统感染(GUTI)可能在胃螺裂的病因中扮演重要角色。本系统综述和荟萃分析旨在识别、评估和总结有关接触泌尿生殖系统感染和胃畸形的文献:采用综合检索策略检索了六个电子数据库(MEDLINE、EMBASE、Web of Science、Scopus、Cochrane 图书馆电子数据库和 Prospero)。对所有纳入研究的引文和引用文章进行了检索。纳入了经同行评议、报告尿路感染 (UTI) 和/或性传播感染 (STI) 与胃螺裂相关性的定量研究。Prospero 注册号为 CRD42022377420:通过检索共发现 2392 篇论文,其中 15 篇符合我们的纳入标准,经过标题、摘要和全文筛选后被纳入。纳入研究的研究时间从 1995 年到 2016 年不等,大多数研究来自美国。其中四项研究考虑了性传播感染的风险,五项研究考虑了UTI的风险,符合荟萃分析的条件。荟萃分析发现,围孕期接触UTI[OR 1.54 (95% CI 1.29, 1.8)]和STI[OR 1.4 (95% CI 1.01, 1.79)]会显著增加胃畸形的风险:围孕期感染 GUTI 与胃螺裂风险增加有关。育龄妇女预防和及时治疗 GUTI 可能有助于减少胃畸形的发生。
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引用次数: 0
World health assembly resolution for preventing micronutrient deficiencies and associated neural tube defects—A case study of global partnerships for a successful resolution adoption 世界卫生大会关于预防微量营养素缺乏症和相关神经管缺陷的决议--成功通过决议的全球伙伴关系案例研究。
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-06-24 DOI: 10.1002/bdr2.2375
Vijaya Kancherla

Background

On May 29, 2023, the 76th World Health Assembly (WHA) unanimously adopted the resolution entitled, “Accelerating efforts for preventing micronutrient deficiencies and their consequences, including spina bifida and other neural tube defects, through safe and effective food fortification.” The Society for Birth Defects Research and Prevention published their resolution in 2015 supporting mandatory fortification of staple foods with folic acid and recommendations aiming to achieve global total prevention of folate-sensitive spina bifida and anencephaly, setting a goal to achieve by the year 2024. The WHA resolution provides another global push for the cause, with recommendations to member nations for food fortification to be achieved by the year 2030.

Methods

This short communication documents the steps, from inception up to the passage, of the 76th WHA resolution on food fortification, with a narrative on the nature of strategic advocacy efforts by multiple governmental and nongovernmental organizations.

Results

WHA resolutions can take many years to be introduced and passed by the assembly; however, this is a case study of the swiftness of the process enabled by powerful global partnership.

Conclusion

The documentation of this process serves as an example for developing and processing future WHA resolutions aiming to improve global maternal and child health.

背景:2023年5月29日,第76届世界卫生大会(WHA)一致通过了题为 "加快努力,通过安全有效的食品营养强化,预防微量营养素缺乏及其后果,包括脊柱裂和其他神经管缺陷 "的决议。出生缺陷研究和预防协会于 2015 年发布决议,支持在主食中强制添加叶酸,并建议在全球范围内全面预防叶酸敏感性脊柱裂和无脑畸形,设定了到 2024 年实现这一目标。世界卫生大会(WHA)的决议为这项事业提供了另一个全球推动力,建议成员国在 2030 年之前实现食品营养强化:这篇短文记录了第76届世界卫生大会关于食品营养强化的决议从开始到通过的各个步骤,并对多个政府和非政府组织的战略宣传工作的性质进行了叙述:结果:世界卫生大会决议的提出和通过可能需要多年时间;然而,这是一个案例研究,通过强大的全球伙伴关系,该过程得以迅速完成:结论:这一过程的文件记录为今后制定和处理旨在改善全球孕产妇和儿童健康的世界卫生大会决议提供了范例。
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引用次数: 0
Beyond the heart: Cognitive and verbal outcomes in Arab children with congenital heart diseases 超越心脏:患有先天性心脏病的阿拉伯儿童的认知和语言能力。
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-06-24 DOI: 10.1002/bdr2.2374
Latefa Ali Dardas, Iyad Al-Ammouri, Sami Sweis, Ahmad Eid, Mohammad Abid, Wei Pan

Background

This study investigates how congenital heart diseases (CHD) characteristics and interventions affect cognitive and verbal skills in Arab children, while also uncovering previously unexplored connections between these skills and the quality of life (QoL) scores as perceived by both children and parents.

Methods

A cross-sectional study was conducted in Jordan, involving 62 children with CHD aged 6–16. Data were collected through standardized intelligence tests (namely The Raven's Progressive Matrices Test and The Wechsler Intelligence Scale for Children) and QoL assessments.

Results

Sex, disease severity, cyanosis, CHD defect status, conducted operations, and types of interventions did not significantly influence cognitive scores. However, a significant difference was observed in Wechsler's scores between cyanotic and non-cyanotic children (p < .01) and between severe and moderate cases (p = .01). Further, a significant positive correlation was identified between Wechsler's Scores and QoL reported by parents (r = 0.33, p < .01). This correlation was particularly pronounced in the social and school functioning dimensions of QoL.

Conclusions

This study highlights the need for personalized care approaches for children with CHDs based on their individual characteristics. While cognitive abilities did not directly correlate with children's QoL reports, a significant positive correlation between verbal skills and QoL reported by parents underscores the importance of effective communication in assessing a child's overall well-being. Future research should further examine the cognitive development in this population, employing neurocognitive investigations and longitudinal studies to gain a deeper understanding of their cognitive profiles and trajectories.

背景:本研究探讨了先天性心脏病(CHD)的特点和干预措施如何影响阿拉伯儿童的认知和语言能力,同时还揭示了这些能力与儿童和家长认为的生活质量(QoL)得分之间以前未曾探讨过的联系:在约旦进行了一项横断面研究,涉及 62 名 6-16 岁患有先天性心脏病的儿童。数据通过标准化智力测验(即瑞文渐进矩阵测验和韦氏儿童智力量表)和 QoL 评估收集:结果:性别、疾病严重程度、发绀、先天性心脏病缺陷状况、进行过的手术和干预类型对认知评分没有显著影响。然而,发绀儿童与非发绀儿童的韦氏评分存在明显差异(p 结论:该研究强调了个性化治疗的必要性:本研究强调了根据患有先天性心脏病的儿童的个体特征采取个性化护理方法的必要性。虽然认知能力与儿童的 QoL 报告没有直接相关性,但言语能力与家长报告的 QoL 之间存在显著的正相关性,这强调了有效沟通在评估儿童整体福祉中的重要性。未来的研究应通过神经认知调查和纵向研究来进一步考察这一人群的认知发展,从而更深入地了解他们的认知概况和发展轨迹。
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引用次数: 0
期刊
Birth Defects Research
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