Growth Disorders

生长障碍
  • 文章类型: Journal Article
    发育迟缓,一种以儿童生长发育受损为特征的疾病,仍然是全球主要的公共卫生问题。在过去的十年里,新的证据揭示了肠道微生物群调节在发育迟缓中的潜在作用。肠道微生物群菌群失调与营养吸收受损有关,慢性炎症,短链脂肪酸生产的改变,扰乱了荷尔蒙和信号通路,所有这些都可能阻碍儿童的最佳成长。这篇综述旨在对现有研究进行全面分析,探索发育迟缓与肠道微生物群之间的双向关系。虽然发育迟缓可以改变肠道微生物群落,微生物群菌群失调可能会加剧这种情况,形成维持这种状况的恶性循环。还讨论了针对肠道微生物群以对抗发育迟缓的有效预防和治疗策略的需求。营养干预,益生菌,和益生元是调节肠道微生物群和潜在改善发育迟缓的最有前途的方法之一。最终,更好地了解肠道微生物群与发育迟缓的关系对于指导循证干预措施至关重要,这些干预措施可以改善全球儿童的生长发育轨迹,在减轻弱势群体发育迟缓的负担方面取得了重大进展。
    Stunting, a condition characterized by impaired growth and development in children, remains a major public health concern worldwide. Over the past decade, emerging evidence has shed light on the potential role of gut microbiota modulation in stunting. Gut microbiota dysbiosis has been linked to impaired nutrient absorption, chronic inflammation, altered short-chain fatty acid production, and perturbed hormonal and signaling pathways, all of which may hinder optimal growth in children. This review aims to provide a comprehensive analysis of existing research exploring the bidirectional relationship between stunting and the gut microbiota. Although stunting can alter the gut microbial community, microbiota dysbiosis may exacerbate it, forming a vicious cycle that sustains the condition. The need for effective preventive and therapeutic strategies targeting the gut microbiota to combat stunting is also discussed. Nutritional interventions, probiotics, and prebiotics are among the most promising approaches to modulate the gut microbiota and potentially ameliorate stunting outcomes. Ultimately, a better understanding of the gut microbiota-stunting nexus is vital for guiding evidence-based interventions that can improve the growth and development trajectory of children worldwide, making substantial strides toward reducing the burden of stunting in vulnerable populations.
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  • 文章类型: Journal Article
    儿童发育迟缓与认知发育受损和感染风险增加有关,发病率,和死亡率。肠道微生物群的组成可能有助于发育迟缓的发病机理。我们系统地回顾和合成了使用高通量基因组测序方法的研究数据,以表征LMIC中5岁以下发育不良儿童和非发育不良儿童的肠道微生物组。我们纳入了来自亚洲的14项研究,非洲,和南美洲。大多数研究没有报道α多样性的任何显著差异,而在七项报告β多样性的研究中,有四项在发育迟缓的儿童中观察到明显更高的β多样性。在门一级,观察到芽孢杆菌与发育迟缓的不一致关联,Pseudomonadota,和Phyla拟杆菌.在所有14项研究中,没有一个属与发育迟缓的儿童有关,某些关联因特定属而不一致。尽管如此,发育迟缓与大量可能引发炎症的病原体有关,如埃希氏菌/志贺氏菌和弯曲杆菌,减少丁酸的生产者,包括粪杆菌,Megasphera,Blautia,并增加了反刍动物球菌。在发育迟缓的儿童的十二指肠和粪便样本中也报道了大量被认为起源于口咽的分类群,而代谢途径,包括嘌呤和嘧啶的生物合成,维生素B生物合成,碳水化合物和氨基酸降解途径,预测线性增长。目前的研究表明,与未发育迟缓的儿童相比,发育迟缓的儿童可以有不同的微生物模式,这可能有助于发育迟缓的发病机制。
    Childhood stunting is associated with impaired cognitive development and increased risk of infections, morbidity, and mortality. The composition of the enteric microbiota may contribute to the pathogenesis of stunting. We systematically reviewed and synthesized data from studies using high-throughput genomic sequencing methods to characterize the gut microbiome in stunted versus non-stunted children under 5 years in LMICs. We included 14 studies from Asia, Africa, and South America. Most studies did not report any significant differences in the alpha diversity, while a significantly higher beta diversity was observed in stunted children in four out of seven studies that reported beta diversity. At the phylum level, inconsistent associations with stunting were observed for Bacillota, Pseudomonadota, and Bacteroidota phyla. No single genus was associated with stunted children across all 14 studies, and some associations were incongruent by specific genera. Nonetheless, stunting was associated with an abundance of pathobionts that could drive inflammation, such as Escherichia/Shigella and Campylobacter, and a reduction of butyrate producers, including Faecalibacterium, Megasphera, Blautia, and increased Ruminoccoccus. An abundance of taxa thought to originate in the oropharynx was also reported in duodenal and fecal samples of stunted children, while metabolic pathways, including purine and pyrimidine biosynthesis, vitamin B biosynthesis, and carbohydrate and amino acid degradation pathways, predicted linear growth. Current studies show that stunted children can have distinct microbial patterns compared to non-stunted children, which could contribute to the pathogenesis of stunting.
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  • 文章类型: Journal Article
    目的:确定东南亚0-24个月儿童发育迟缓的预测因素。
    方法:本范围审查的重点是2012年至2023年从五个国际数据库中发表的具有观察性研究设计的英文文章。使用的主要关键字是:\“发育迟缓\”或\“生长障碍\”和\“新生儿\”和\“预测\”和\“东南亚\”。
    结果:在最终分析的27篇文章中,有13篇预测了七个东南亚国家的发育迟缓。十三个预测因子包括孩子,母亲,home,补充喂养不足,母乳喂养不足,护理不足,劣质食品,食品和水安全,感染,政治经济学,健康与保健,水,卫生,和环境,和社会文化因素。
    结论:所有这些预测因素都可能导致东南亚发育迟缓。为了防止它,卫生服务提供者和其他相关部门需要根据发现的预测因素开展健康促进和健康预防。
    OBJECTIVE: To identify predictors of stunting among children 0-24 months in Southeast Asia.
    METHODS: This scoping review focused on articles with observational study design in English published from 2012 to 2023 from five international databases. The primary keyword used were: \"stunting\" OR \"growth disorder\" AND \"newborn\" AND \"predict\" AND \"Southeast Asia\".
    RESULTS: Of the 27 articles selected for the final analysis there are thirteen predictors of stunting in seven Southeast Asia countries. The thirteen predictors include the child, mother, home, inadequate complementary feeding, inadequate breastfeeding, inadequate care, poor quality foods, food and water safety, infection, political economy, health and healthcare, water, sanitation, and environment, and social culture factor.
    CONCLUSIONS: All these predictors can lead to stunting in Southeast Asia. To prevent it, health service providers and other related sectors need to carry out health promotion and health prevention according to the predictors found.
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  • 文章类型: Journal Article
    背景:有人认为,早期接触镉有毒金属会降低婴儿/儿童的生长;然而,现有的证据是矛盾的。
    目的:这项荟萃分析旨在研究通过生物样本的镉暴露与婴儿/儿童生长测量的关联,包括体重,高度,体重指数(BMI),年龄BMI(BMIZ评分),年龄体重(WAZ),身高年龄(HAZ),和身高体重(WHZ)z分数。
    方法:在PubMed和Scopus中进行了系统搜索以获得相关研究。使用标准化的β系数(β)和95%置信区间(95%CI)作为效应大小,使用随机效应分析来测试相关性。
    结果:共有15项研究纳入了6,181名参与者的荟萃分析。在总体分析中,对现有数据的汇总分析显示,镉暴露与身高(β=-0.06,95%CI=-0.12至-0.01)和WAZ(β=-0.01,95%CI=-0.02至-0.003)成反比。这些关系也得到了前瞻性队列研究和尿镉暴露的支持。在分层分析中,在前瞻性队列研究中,镉暴露与儿童体重呈负相关,在评估尿镉暴露的研究中。镉暴露与BMI之间没有显着关联,BMIZ评分,WHZ,和HAZ在总体和亚组分析中。
    结论:这项荟萃分析强调了镉暴露作为婴儿/儿童生长障碍的危险因素的重要性。
    UNASSIGNED: Introduction: early exposure to cadmium toxic metal has been suggested to be associated with reduced infants/children growth; nevertheless, the available evidence is contradictory. Objective: this meta-analysis aimed to examine the association of cadmium exposure through biological samples to growth measurements of infants/children, including body weight, height, body mass index (BMI), BMI-for-age (BMI Z-score), weight-for-age (WAZ), height-for-age (HAZ), and weight-for-height (WHZ) z-scores. Methods: a systematic search in PubMed and Scopus was implemented to obtain the related studies. The standardized beta coefficients (β) and 95 % confidence intervals (95 % CI) were used as effect sizes to test the associations using the random effects analysis. Results: a total of 15 studies with 6,181 participants were included in the meta-analysis. In the overall analysis, pooled analysis of available data revealed that cadmium exposure was inversely linked to height (β = -0.06, 95 % CI = -0.12 to -0.01) and WAZ (β = -0.01, 95 % CI = -0.02 to -0.003). These relationships were also supported by prospective cohort studies and urinary cadmium exposure. In the stratified analysis, cadmium exposure was negatively linked to the weight of children in prospective cohort studies, in studies that assessed urinary cadmium exposure. No significant association was detected between cadmium exposure and BMI, BMI Z-score, WHZ, and HAZ in the overall and subgroup analyses. Conclusions: this meta-analysis emphasized the importance of cadmium exposure as a risk factor for growth failure in infants/children.
    UNASSIGNED: Introducción: se ha sugerido que la exposición temprana al metal tóxico cadmio se asocia a un crecimiento reducido de los bebés y niños; sin embargo, la evidencia disponible es contradictoria. Objetivo: este metanálisis tuvo como objetivo examinar la asociación de la exposición al cadmio a través de muestras biológicas con las mediciones de crecimiento de bebés/niños, incluidos el peso corporal, la altura, el índice de masa corporal (IMC), el IMC para la edad (puntuación Z del IMC) y las puntuaciones z de peso para la edad (WAZ), altura para la edad (HAZ) y peso para la altura (WHZ). Métodos: se implementó una búsqueda sistemática en PubMed y Scopus para obtener los estudios relacionados. Los coeficientes beta estandarizados (β) y los intervalos de confianza del 95 % (IC 95 %) se utilizaron como tamaños del efecto para probar las asociaciones mediante el análisis de efectos aleatorios. Resultados: se incluyeron en el metanálisis un total de 15 estudios, con 6.181 participantes. En el análisis general, el análisis conjunto de los datos disponibles reveló que la exposición al cadmio estaba inversamente relacionada con la altura (β = -0,06, IC del 95 % = -0,12 a -0,01) y WAZ (β = -0,01, IC del 95 % = -0,02 a -0,003). Estas relaciones también fueron respaldadas por estudios de cohortes prospectivos y exposición al cadmio en orina. En el análisis estratificado, la exposición al cadmio se relacionó negativamente con el peso de los niños en estudios de cohortes prospectivos, en estudios que evaluaron la exposición al cadmio en la orina. No se detectó ninguna asociación significativa entre la exposición al cadmio y el IMC, la puntuación Z del IMC, el WHZ y el HAZ en los análisis generales y de subgrupos. Conclusiones: este metanálisis enfatizó la importancia de la exposición al cadmio como factor de riesgo del retraso del crecimiento en lactantes/niños.
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  • 文章类型: Systematic Review
    这项研究的目的是比较长效生长激素(LAGH)作为生长激素替代疗法在患有生长激素缺乏症(GHD)的青春期前儿童中的相对疗效和安全性。我们搜查了PubMed,Embase,CNKI,和万方数据库从成立到2023年7月,并确定了11项相关研究。PEG-LAGH对高度速度的影响(平均差[MD]:-0.031,95%可信区间[CrI]:-0.278,0.215)比somatrogon(MD:0.105,95%CrI:-0.419,0.636)更好,与每日生长激素(DGH)相比,索马帕西坦(MD:0.802,95%CrI:-0.451,2.068)和lonapegsomatropin(MD:1.335,95%CrI:-0.3,2.989)。此外,就身高标准差得分而言,PEG-LAGH表现出比somatrogon(MD:-0.055,95%CrI:-1.3,0.51)和somapacitan(MD:0.22,95%CrI:-0.91,1.3)更好的改善(MD:-0.15,95%CrI:-1.1,0.66)。PEG-LAGH(风险比[RR]:1.00,95%CrI:0.82,1.2)与其他LAGH(somatrogon,RR:1.1,95%CrI:0.98,1.2;索马帕西坦,RR:1.1,95%CrI:0.96,1.4;lonapegomatropin,RR,1.1,95%CrI:0.91,1.3),与DGH相当。这是第一项通过网络荟萃分析间接比较LAGH的研究,并提供了各种LAGH特别是PEG-LAGH在青春期前GHD儿童中的最佳疗效和可接受的安全性的证据。
    The purpose of this study is to compare the relative efficacy and safety of long-acting growth hormone (LAGH) as a growth hormone replacement therapy in prepubertal children with growth hormone deficiency (GHD). We searched the PubMed, Embase, CNKI, and Wanfang databases from inception to July 2023 and identified eleven relevant studies. PEG-LAGH showed better effect on height velocity (mean difference [MD]: - 0.031, 95% credibility interval [CrI]: - 0.278, 0.215) than somatrogon (MD: 0.105, 95% CrI: - 0.419, 0.636), somapacitan (MD: 0.802, 95% CrI: - 0.451, 2.068) and lonapegsomatropin (MD: 1.335, 95% CrI: - 0.3, 2.989) when compared with daily growth hormone (DGH). Furthermore, in terms of height standard deviation score, PEG-LAGH demonstrated better improvement (MD: - 0.15, 95% CrI: - 1.1, 0.66) than somatrogon (MD: - 0.055, 95% CrI: - 1.3, 0.51) and somapacitan (MD: 0.22, 95% CrI: - 0.91, 1.3). PEG-LAGH (risk ratio [RR]: 1.00, 95% CrI: 0.82, 1.2) reduced the risk of adverse events compared with other LAGH (somatrogon, RR: 1.1, 95% CrI: 0.98, 1.2; somapacitan, RR: 1.1, 95% CrI: 0.96, 1.4; lonapegsomatropin, RR, 1.1, 95% CrI: 0.91, 1.3) and was comparable with DGH. This is the first study to indirectly compare the LAGH thorough a network meta-analysis and provide evidence of the optimal efficacy of various LAGH specifically PEG-LAGH and acceptable safety profile in prepubertal children with GHD.
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  • 文章类型: Review
    下腰骶骨发育不良(MAD)综合征是一种罕见的遗传性疾病。几种孕激素综合征,包括下颌骨发育不良A型(MADA),下颌骨发育不良B型(MADB),哈钦森-吉尔福德早衰症(HGPS)和下颌骨发育不全,耳聋,和脂肪代谢障碍综合征(MDPL)以前已经报道过。最近报道了一种新的MAD孕激素综合征(MADaM)。到目前为止,在世界范围内已经报道了7例被诊断为分子诊断的MADaM。在中国人口中,从未报道过与MTX2变异相关的MAD病例.
    在患有该疾病的患者中确定并研究了临床症状和遗传分析。此外,我们分析并比较了全球报告的7例MADaM病例,并总结了迄今为止在中国人群中报告的早衰综合征.
    本研究报告了一例MTX2基因中一个新的纯合突变c.378+1G>A,以前在文献中没有报道过。出现早期发作和严重症状以及出生后不久的患者被发现具有生长迟缓。除了早衰的特征,骨骼畸形,先前报道的全身性脂肪营养不良,和其他多系统参与,例如肝脾,肾,和心血管系统,据报道,该病例还合并了低球蛋白血症。此后,她因感染多次入院。在先前报告的22种早衰综合征中,16/22是由LMNA基因突变引起的MADA或HGPS,纯合c.1579C>T(p。R527C)突变可能是中国人群MAD的热点突变。MAD和HGPS主要存在于有皮肤异常或脱发的婴儿期,MDPL主要表现在学龄期,以生长迟缓为第一表现,并且通常在几十年后与内分泌代谢紊乱相结合。
    这是中国人群中报道的第一例由MTX2基因突变引起的MAD综合征。MTX2基因c.378+1G>纯合突变以前没有报道,该患者的报道扩大了MTX2突变的范围。此外,我们总结了中国早衰综合征患者的基因型和临床特征。
    UNASSIGNED: Mandibuloacral dysplasia (MAD) syndrome is a rare genetic disease. Several progeroid syndromes including mandibuloacral dysplasia type A (MADA), mandibuloacral dysplasia type B(MADB), Hutchinson-Gilford progeria (HGPS) and mandibular hypoplasia, deafness, and lipodystrophy syndrome (MDPL) have been reported previously. A novel MAD progeroid syndrome (MADaM) has recently been reported. So far, 7 cases of MADaM diagnosed with molecular diagnostics have been reported in worldwide. In the Chinese population, cases of MAD associated with the MTX2 variant have never been reported.
    UNASSIGNED: The clinical symptoms and the genetic analysis were identified and investigated in patients presented with the disease. In addition, we analyzed and compared 7 MADaM cases reported worldwide and summarized the progeroid syndromes reported in the Chinese population to date.
    UNASSIGNED: The present study reports a case of a novel homozygous mutation c.378 + 1G > A in the MTX2 gene, which has not been previously reported in the literature. Patients present with early onset and severe symptoms and soon after birth are found to have growth retardation. In addition to the progeroid features, skeletal deformities, generalized lipodystrophy reported previously, and other multisystem involvement, e.g. hepatosplenic, renal, and cardiovascular system, this case was also reported to have combined hypogammaglobulinemia. She has since been admitted to the hospital several times for infections. Among 22 previously reported progeroid syndromes, 16/22 were MADA or HGPS caused by LMNA gene mutations, and the homozygous c.1579C > T (p.R527C) mutation may be a hot spot mutation for MAD in the Chinese population. MAD and HGPS mostly present in infancy with skin abnormalities or alopecia, MDPL mostly presents in school age with growth retardation as the first manifestation, and is often combined with an endocrine metabolism disorder after several decades.
    UNASSIGNED: This is the first case of MAD syndrome caused by mutations in MTX2 gene reported in the Chinese population. MTX2 gene c.378 + 1G > A homozygous mutation has not been previously reported and the report of this patient expands the spectrum of MTX2 mutations. In addition, we summarized the genotypes and clinical characteristics of patients with progeroid syndromes in China.
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  • 文章类型: Journal Article
    儿童营养不良仍然是亚太地区的一个重大关切,出生间隔短被认为是潜在的危险因素。然而,这种关联的证据是不确定的。本研究旨在系统回顾现有证据,并评估短出生间隔对亚太地区儿童营养不良的影响。2023年5月搜索了五个电子数据库,以确定相关研究报告出生间隔短与儿童营养不良之间的关联。包括发育迟缓,浪费,体重不足,贫血和总体营养不良,2000年9月至2023年5月在亚太地区。进行了固定效应或随机效应荟萃分析,以估计短出生间隔对儿童营养不良的汇总影响。在符合纳入标准的56项研究中,通过荟萃分析将48项纳入定量合成。我们发现在短出生间隔出生的孩子中发育迟缓的可能性(n=25,比值比[OR]=1.13;95%置信区间[CI]:0.97-1.32)和总体营养不良(n=3,OR=2.42;95%CI:0.88-6.65)与非短出生间隔出生的孩子相比,尽管效果没有统计学意义。然而,由于研究中发现的异质性,因此需要谨慎行事。亚组分析显示,在国家级研究和样本量较大的研究中,短出生间隔对儿童营养不良的显着影响。这些发现强调了短出生间隔是亚太地区儿童营养不良的重要原因。实施有效的政策和计划对于减轻这种负担至关重要,最终减少儿童营养不良和相关的不良后果,包括儿童死亡率。
    Child malnutrition remains a significant concern in the Asia-Pacific region, with short birth intervals recognised as a potential risk factor. However, evidence of this association is inconclusive. This study aimed to systematically review the existing evidence and assess the summary effects of short birth interval on child malnutrition in the Asia-Pacific region. Five electronic databases were searched in May 2023 to identify relevant studies reporting the association between short birth interval and child malnutrition, including stunting, wasting, underweight, anaemia and overall malnutrition, in Asia-Pacific region between September 2000 and May 2023. Fixed-effects or random-effects meta-analysis was performed to estimate the summary effects of short birth interval on child malnutrition. Out of 56 studies meeting the inclusion criteria, 48 were included in quantitative synthesis through meta-analysis. We found a slightly higher likelihood of stunting (n = 25, odds ratio [OR] = 1.13; 95% confidence interval [CI]: 0.97-1.32) and overall malnutrition (n = 3, OR = 2.42; 95% CI: 0.88-6.65) among children born in short birth intervals compared to those with nonshort intervals, although the effect was not statistically significant. However, caution is warranted due to identified heterogeneity across studies. Subgroup analysis demonstrated significant effects of short birth intervals on child malnutrition in national-level studies and studies with larger sample sizes. These findings underscore short birth intervals as a significant contributor to child malnutrition in the Asia-Pacific region. Implementing effective policies and programs is vital to alleviate this burden, ultimately reducing child malnutrition and associated adverse outcomes, including child mortality.
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  • 文章类型: Journal Article
    背景:在拉丁美洲和加勒比(LAC)地区,估计营养不良的双重负担(DBM)的患病率具有挑战性,在该地区,各种DBM类型(例如,肥胖和发育迟缓)是异质的,估计分散在文献中。
    目的:我们旨在评估LAC地区DBM类型的患病率。
    方法:我们搜索了PubMed,Embase,Scopus,和WebofScience确定1月1日之间发表的关于DBM患病率的研究,2000年1月23日,2023年。结果是确定的DBM类型在家庭中的流行,个人,或跨生命历程级别。使用比例的随机效应荟萃分析来估计所有结局的合并期患病率。使用荟萃回归法探索异质性。
    结果:从确定的754条记录中,60项(8%)研究合格,中位数为4379人。研究报告了1988年至2017年收集的来自27个拉丁美洲和加勒比国家的数据。大多数研究使用具有全国代表性的调查(68%),并评分为低偏倚风险(70%)。我们确定了17种DBM类型,对其进行了360种估计分析。确定的DBM类型的患病率在0%到24%之间,DBM类型“成人超重和儿童贫血”的患病率最高(24.3%;95%CI:18.8%,30.2%)。最常报告的DBM类型是“成人超重和儿童发育迟缓,患病率为8.5%(95%CI:7.7,9.3)。所有患病率均具有较大的异质性(I2>90%),由次区域和国家适度解释。由于估计不足,无法估计整个生命周期的DBM。
    结论:使用现有数据,我们的研究表明,LAC地区的DBM负担范围在0%至24%之间。在最常见的DBM类型中,超重是一个常见的原因。通过解决这些人群中体重过重的策略,可以在遏制LAC地区的DBM负担方面取得重大进展。本研究在PROSPERO注册为CRD42023406755。
    Estimating the prevalence of double burden of malnutrition (DBM) is challenging in the Latin American and Caribbean (LAC) region where various DBM typologies (e.g., obesity and stunting) are heterogeneous and estimates are scattered across literature This study aimed to assess the prevalence of DBM typologies in the LAC region. We searched PubMed, Embase, Scopus, and Web of Science to identify studies on the prevalence of DBM published between 1 January, 2000, and 23 January, 2023. Outcomes were the prevalence of the identified DBM typologies at the household, individual, or across life course levels. Random-effect meta-analyses of proportions were used to estimate pooled period prevalence for all outcomes. Heterogeneity was explored using meta-regressions. From 754 records identified, 60 (8%) studies were eligible, with a median of 4379 individuals. Studies reported data from 27 LAC countries collected between 1988 and 2017. Most studies used nationally representative surveys (68%) and scored as low risk of bias (70%). We identified 17 DBM typologies for which 360 estimates were analyzed. The prevalence of the identified DBM typologies ranged between 0% and 24%, with the DBM typology of \"adult with overweight and child with anemia\" having the highest prevalence (24.3%; 95% CI: 18.8%, 30.2%). The most frequently reported DBM typology was \"adult with overweight and child with stunting,\" with a prevalence of 8.5% (95% CI: 7.7, 9.3). All prevalences carried large heterogeneity (I2>90%), modestly explained by subregions and countries. DBM across the life course could not be estimated owing to insufficient estimates. In conclusion, using available data, our study suggests that the burden of DBM in the LAC region ranges between 0% and 24%. In the most frequent DBM typologies, overweight was a common contributor. Substantial progress can be made in curbing the burden of DBM in the LAC region through strategies addressing excess weight within these population groups. This study was registered at PROSPERO as CRD42023406755.
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  • 文章类型: Case Reports
    GAPO综合征是由ANTXR1基因的双等位基因变异引起的罕见遗传病,是其核心特征-生长迟缓的缩写,脱发,假性无牙和视神经萎缩。多年来已经报道了涉及各种其他系统的某些附加特征,并有助于这种进化表型的扩展谱。我们报道了一名3.75岁的印度女性儿童的GAPO综合征,他们表现出一些独特的特征,如矢状颅骨融合伴头颅和双侧脉络丛囊肿,除了核心表型。我们还报告了我们患者的一种新型移码变体,并为某些特征的产前发作提供了初步证据。
    GAPO syndrome is a rare genetic condition caused by bi-allelic variants in ANTXR1 gene & is an abbreviation for its core features - growth retardation, alopecia, pseudo-anodontia & optic atrophy. Certain additional features involving various other systems have been reported over the years & contribute to the expanding spectrum of this evolving phenotype. We report GAPO syndrome in a 3.75 year old Indian female child, who presented with some unique features such as sagittal craniosynostosis with scaphocephaly & bilateral choroid plexus cysts, alongside the core phenotype. We also report a novel frameshift variant in our patient & offer first evidence for the prenatal onset of some features.
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  • 文章类型: Systematic Review
    背景:发育迟缓是5岁以下儿童生长发育的重要预测指标,它仍然是LMIC的重大问题。然而,LBW成为危险因素,但它与LMIC的联系需要关注。
    目的:本系统综述和荟萃分析旨在调查低出生体重与低出生体重与低出生人口年龄组儿童发育迟缓风险的关系。
    方法:PubMed,谷歌学者,MEDLINE,Embase,和WebofScience数据库从2010年1月1日至2021年12月20日进行搜索。横截面,队列,和病例对照研究设计纳入荟萃分析.考虑到随机效应和质量效应模型,报告了具有95%置信区间的合并优势比。亚组分析和荟萃回归用于研究设计,地理位置,和样本量。
    结果:低出生体重与儿童期发育迟缓风险增加2倍相关(合并OR:2.32;95%CI,2.05-2.62)。在分层分析中,亚洲研究显示风险相对高于非洲研究。队列研究预测儿童发育迟缓的风险更高,其次是病例对照和横断面研究设计,样本量分层表明,样本量为1000的研究预测的风险远高于样本量为1000的研究。在所有三个亚组中进行了荟萃回归,但是没有一个模型看起来很重要。
    结论:这项荟萃分析证实了低出生体重与0-5岁年龄组儿童发育迟缓风险较高之间的关联,并提示与非洲相比,亚洲有中等较高的风险。
    BACKGROUND: Stunting is an important predictor of growth and development of children under 5 years of age, and it remains the significant problem in LMIC. However, LBW emerges as risk factor, but its association with LMIC needs attention.
    OBJECTIVE: This systematic review and meta-analysis aimed to investigate the association of low birth weight with the risk of childhood stunting among the age group of 0-5 years in LMICs.
    METHODS: PubMed, Google Scholar, MEDLINE, Embase, and Web of Science databases were searched from January 1, 2010 untill December 20, 2021. Cross-sectional, cohort, and case-control study designs were included in the meta-analyses. The pooled odds ratio with a 95% confidence interval was reported considering the random-effects and the quality-effects models. The subgroup analysis and meta-regression were conducted for study design, geographical location, and sample size.
    RESULTS: Low birth weight was associated with >2-fold increased risk of childhood stunting (pooled OR: 2.32; 95% CI, 2.05-2.62). Asian studies have shown relatively higher risk than African studies in stratified analyses. The cohort studies predicted a higher risk of childhood stunting, followed by case-control and cross-sectional study designs, and the sample size stratification showed that studies with sample size <1,000 predicted much higher risk than relatively to the studies with sample size >1,000. The meta-regression was performed in all three subgroups, but none of the models appeared significant.
    CONCLUSIONS: This meta-analysis confirmed the association of low birth weight with the higher risk of childhood stunting among the 0-5 years\' age group and suggests a moderately higher risk in Asia as compared to Africa.
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