impaired growth

  • 文章类型: Journal Article
    背景:营养不良的原因是食物不足,儿童护理受损,获得医疗保健的机会有限,孕产妇缺乏健康素养。此外,有几个环境因素,如饮用水质量,卫生条件差,以及可能导致儿童营养状况不良的卫生习惯。本研究旨在比较与家庭相关的危险因素,包括水,卫生,和母亲的卫生(WASH)做法,五岁以下的儿童发育迟缓。
    方法:对旁遮普省南部德拉加齐汗地区五岁以下儿童的母亲进行了面对面的横断面调查,巴基斯坦。使用世界卫生组织的发育迟缓标准来识别参与者。社会人口统计问卷用于收集同意的父母/监护人关于儿童年龄的信息,喂养,和WASH实践。皮尔森的卡方,简单回归,并应用层次回归模型进行数据分析。
    结果:共有204名男女儿童母亲参与了这项研究。儿童平均年龄(SD)15.67(±10.2)个月,他们的体重是5.44(±1.45)公斤,他们的身高是67.69(±10.05),上臂中周为9.75(±1.30)cm。儿童发育迟缓为轻度(z评分>-2),为17.6%,中等(z分数-2到-3)为16.7%,65.7%的参与者为严重(z评分<-3)。一个简单的回归模型显示出很强的关联性,r2=0.062,p=0.013,年龄是最重要的社会人口统计学因素。分层回归模型显示组合值r2=0.0128,p=0.027,手泵和水箱水为与儿童发育迟缓相关的显著饮用水源。
    结论:发育迟缓可能与几个危险因素有关,包括WASH参数。这项研究得出结论,在旁遮普邦南部,五岁以下的儿童容易发育迟缓,巴基斯坦。发现手动泵和水箱水资源的污染是造成发育迟缓的主要因素。
    Reasons for undernutrition are food insufficiency, impaired child care, limited access to healthcare, and maternal lack of health literacy. In addition, there are several environmental factors, such as drinking water quality, poor sanitation, and hygienic practices that can lead to poor nutritional status in children. The present study aimed to compare household-associated risk factors, including water, sanitation, and hygiene (WASH) practices of mothers, with children\'s stunting under the age of five.
    A face-to-face cross-sectional survey was conducted with mothers of children under the age of five in the Dera Ghazi Khan district in southern Punjab, Pakistan. World Health Organization criteria for stunting were used to identify the participants. A sociodemographic questionnaire was used to collect information from consented parents/guardians on children\'s age, feeding, and WASH practices. Pearson\'s chi-square, simple regression, and hierarchical regression models were applied for data analysis.
    A total of 204 mothers of children of both genders participated in this study. The children\'s mean (SD) age was 15.67 (± 10.2) months, their weight was 5.44 (± 1.45) kg, their height was 67.69 (± 10.05), and their mid-upper arm circumference was 9.75 (± 1.30) cm. Children\'s stunting was mild (z-score > -2) at 17.6%, moderate (z-score - 2 to -3) at 16.7%, and severe (z-score < -3) at 65.7% of participants. A simple regression model showed a strong association, r2 = 0.062, p = 0.013, with age as the most significant sociodemographic factor. The hierarchical regression model showed a combined value of r2 = 0.0128, p = 0.027, with hand pump and tank water as the significant source of drinking water that was related to stunting among children.
    Stunting can be associated with several risk factors, including WASH parameters. This study concluded that children aged under five years are susceptible to stunting in southern Punjab, Pakistan. The contamination of hand pumps and tank water resources was found to be the major contributing factor to stunting.
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  • 文章类型: Case Reports
    目标:Löwe综合征(Löwe的眼脑肾综合征,OCRL,OMIM#309000,ORPHA:534)是一种非常罕见的多系统X连锁疾病,其特征是眼部,肾脏和神经系统异常.
    方法:我们介绍了首例保加利亚基因证实的OCRL患者。病人有面部畸形,隐睾,先天性白内障,眼球震颤,身体和精神发育延迟,和营养不良。他有严重的病,代谢性酸中毒,低钾血症,低磷酸盐血症,三岁时IGF-1水平较低,除了他的发育迟缓.分子遗传学分析报告了一种致病变异c.1144A>G,p.H375R中的OCRL基因。这个变种是从母亲那里遗传下来的,谁是承运人。在OCRL的诊断之后,用柠檬酸钾治疗,磷酸盐,骨化三醇被启动,随着热量摄入的增加。在一般的物理和生化改善之后,rhGH的治疗始于4年前,并介绍了目前的结果。
    结论:接受6年随访的Löwe综合征患者证明了罕见疾病病例的复杂性以及多学科护理与生长激素治疗对这些患者更好结果的价值。
    OBJECTIVE: Löwe syndrome (the oculocerebrorenal syndrome of Löwe, OCRL, OMIM #309000, ORPHA: 534) is a very rare multisystem X-linked disorder characterized by ocular, kidney and nervous system anomalies.
    METHODS: We present the first Bulgarian genetically confirmed patient with OCRL. The patient had facial dysmorphism, cryptorchidism, congenital cataracts, nystagmus, delayed physical and mental development, and poor nutritional status. He had severe rickets, metabolic acidosis, hypokalaemia, hypophosphataemia, and low IGF-1 levels at the age of three, in addition to his developmental delay. The molecular-genetic analysis reported a pathogenic variant c.1124A>G, p.H375R in the OCRL gene. This variant was inherited from the mother, who was a carrier. Following the diagnosis of OCRL, treatment with potassium citrate, phosphate, and calcitriol was initiated, along with an increase in caloric intake. Following general physical and biochemical improvement, therapy with rhGH started 4 years ago, and current results are presented.
    CONCLUSIONS: The patient with Löwe syndrome who was presented with a 6-year follow-up demonstrates the complexity of rare disease cases and the value of multidisciplinary care together with growth hormone treatment for better results in these patients.
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  • 文章类型: Journal Article
    在埃塞俄比亚,关于生产安全网计划地区儿童从补充食品中摄入的能量和微量营养素的信息有限。因此,我们在埃塞俄比亚一个粮食不安全的农村地区,对6-23个月大的儿童的喂养方式,以及从辅食中选择的能量和微量营养素的摄入量进行了评估.能量和微量营养素的摄入量是通过多次通过24小时召回来估计的。使用结构化问卷收集数据。在6-8个月的年龄范围内,只有1·9%的儿童符合建议的≥5个食物组的最低饮食多样性;在年龄较大的年龄组(9-11个月和12-23个月,该值略有增加至4%和10·1%,分别)。压倒性的,没有一个孩子(9-11个月)确实获得了最低可接受的饮食(接受最低可接受饮食的儿童在6-8个月和12-23个月分别为4和2·6%,分别)。发育迟缓的总体患病率在年龄较小的儿童(6-8个月)中为34%,在12-23个月的年龄较大的儿童中为51%。假设平均母乳量和成分,则补充食品中的能量中位数和选定的微量营养素摄入量低于相应的WHO建议。最严重的短缺是维生素A和C以及Ca。相比之下,中位数铁,蛋白质和烟酸的摄入量和密度均高于WHO建议。研究环境中的看守者和社区领导人需要对IYCF相关实践以及男性参与IYCF的重要性进行营养教育。确保动物源食品(ASF)的可及性和可负担性,水果和蔬菜,可行的辅食对于解决辅食的质量至关重要。这可以通过在这种情况下促进对营养敏感的农业来实现,例如家禽和家庭园艺。
    In Ethiopia, information is limited about energy and micronutrient intakes from complementary foods consumed by children in Productive Safety Net Program districts. Therefore, we assessed feeding practices and intakes of energy and selected micronutrients from complementary foods of children aged 6-23 months in a food insecure rural area of Ethiopia. Energy and micronutrient intakes were estimated from multiple-pass 24 h recall. Data were collected using a structured questionnaire. Only 1⋅9 % of children in the age range 6-8 months met recommended minimum dietary diversity of ≥5 food groups; this value slightly increased to 4 and 10⋅1 % in the older age groups (9-11 months and 12-23 months, respectively). Overwhelmingly, none of the children (9-11 months) did get the minimum acceptable diet (Children receiving minimum acceptable diet were 4 and 2⋅6 % in 6-8 months and 12-23 months, respectively). The overall prevalence of stunting was 34 % in younger children (6-8 months) and 51 % in older children aged 12-23 months. Median energy and selected micronutrient intakes from complementary foods were below corresponding WHO recommendations assuming average breast-milk amount and composition. The worst shortfalls were for vitamins A and C and for Ca. In contrast, median iron, protein and niacin intakes and densities were above the WHO recommendation. Caretakers and community leaders in the study setting need nutrition education on IYCF-related practices and on the importance of men\'s involvement in IYCF. Ensuring the accessibility and affordability of animal source foods (ASFs), fruits and vegetables, and feasible complementary foods is critical to address the quality of complementary feedings. This can be achieved through promoting nutrition-sensitive agriculture such as poultry and home gardening in this setting.
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  • 文章类型: Case Reports
    Ververi-Brady syndrome (VBS), first reported in 2018, is characterized by intellectual disability, speech delay, and mild dysmorphic facial features. VBS has been linked to de novo loss-of-function variants in the glutamine-rich protein 1 (QRICH1) on chromosome 3p21 and was reported until lately in only five individuals. Four additional cases have just been described substantiating the notion that children with VBS are mildly dysmorphic, mildly to moderately intellectually disabled, have linear growth shortage, are picky eaters, and have notable attention and social behavioral deficits. We describe a new patient and review the clinical and genetic information, on all previously reported VBS cases. The child here reported is noted for maladaptive behavior, sensory hypersensitivity, and slow linear growth. He is mainly hyperactive, distractible, impulsive, and inattentive. His speech, initially delayed, is fair and his verbal comprehension age adequate.
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  • 文章类型: Case Reports
    A Holstein-Fresian calf with multiple congenital malformations was subjected postmortem to anatomical and genetic investigation. The calf was small (20 kg), had shortened limbs and was unable to stand up. It lived only 44 days. Detailed anatomical investigation revealed the following features: head asymmetry, the relocation of the frontal sinus and eye orbits, hypoplastic thymus without neck part, ductus Botalli, unfinished obliteration in umbilical arteries, and a bilateral series of tooth germs in the temporal region. Cytogenetic examination, performed on in vitro cultured fibroblasts, showed a unique mosaic karyotype with a marker chromosome-60,XX[9 2%]/60,XX,+mar[8%], which was for the first time described in cattle. No other chromosome abnormalities indicating chromosome instabilities, like chromatid breaks or gaps were identified, thus teratogenic agent exposure during pregnancy was excluded. The marker chromosome (mar) was small and it was not possible to identify its origin, however, sequential DAPI/C (4\',6-diamidino-2-phenylindole) band staining revealed a large block of constitutive heterochromatin, which is characteristic for centromeric regions of bovine autosomes. We suppose that the identified marker chromosome was a result of somatic deletion in an autosome and its presence could be responsible for the observed developmental malformations. In spite of the topographic distance among the affected organs, we expected a relationship between anatomical abnormalities. To the of our best knowledge, this is the first case of a mosaic karyotype with a cell line carrying a small marker chromosome described in a malformed calf.
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  • 文章类型: Journal Article
    为了研究儿童游戏空间中粪便污染之间的关系,肠道感染,环境性肠病(EE)和幼儿生长受损。
    对孟加拉国农村地区203名6-30个月大的儿童进行了前瞻性队列研究。通过定量PCR分析粪便样品的志贺氏菌,产肠毒素大肠杆菌(ETEC),空肠弯曲杆菌,肠贾第鞭毛虫和隐孢子虫。还测量了肠道炎症的四种粪便标志物:α-1-抗胰蛋白酶,髓过氧化物酶,新蝶呤和钙卫蛋白。在基线和登记后9个月测量儿童生长。在儿童游戏空间的土壤中测量大肠杆菌。
    47%的研究儿童的粪便中有三种或三种以上的肠道病原体。35%(71/203)的儿童患有志贺氏菌,30%(61/203)有ETEC,73%(148/203)有空肠杆菌,79%(160/203)有肠贾第鞭毛虫,没有有隐孢子虫。患有ETEC的儿童具有显著较高的钙卫蛋白浓度(系数:1.35,95%置信区间[CI]:1.005,1.82)。在我们的9个月随访中,志贺氏菌患儿发育迟缓的几率明显更高(OR:2.01,95%CI:1.02,3.93)。患有贾第鞭毛虫的儿童在从其游戏空间收集的土壤中的大肠杆菌计数明显较高(OR:1.23,95%CI:1.02,1.48)。
    孟加拉国农村地区的肠道感染与EE和生长受损显著相关。这些发现提供了进一步的证据来支持以下假设:儿童游戏空间中的污染土壤会导致肠道感染,其中许多可能是亚临床的,导致EE和幼儿生长受损。
    To investigate the relationship between faecal contamination in child play spaces, enteric infections, environmental enteropathy (EE) and impaired growth among young children.
    A prospective cohort study was conducted of 203 children 6-30 months of age in rural Bangladesh. Stool samples were analysed by quantitative PCR for Shigella, Enterotoxigenic Escherichia coli (ETEC), Campylobacter jejuni, Giardia intestinalis and Cryptosporidium spp. Four faecal markers of intestinal inflammation were also measured: alpha-1-antitrypsin, myeloperoxidase, neopterin and calprotectin. Child growth was measured at baseline and 9 months after enrolment. E. coli was measured in soil in child play spaces.
    Forty-seven percent of study children had three or more enteric pathogens in their stool. Thirty five percent (71/203) of children had Shigella, 30% (61/203) had ETEC, 73% (148/203) had C. jejuni, 79% (160/203) had Giardia intestinalis and none had Cryptosporidium. Children with ETEC had significantly higher calprotectin concentrations (Coefficient: 1.35, 95% Confidence Interval [CI]: 1.005, 1.82). Children with Shigella had a significantly higher odds of being stunted at our 9-month follow-up (OR: 2.01, 95% CI: 1.02, 3.93). Children with Giardia intestinalis had significantly higher E.coli counts in the soil collected from their play spaces (OR: 1.23, 95% CI: 1.02, 1.48).
    Enteric infections were significantly associated with EE and impaired growth in rural Bangladesh. These findings provide further evidence to support the hypothesis that contaminated soil in child play spaces can lead to enteric infections, many of which are likely subclinical, resulting in EE and impaired growth in young children.
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  • 文章类型: Journal Article
    目的:导致臂丛神经麻痹后体位和骨肩畸形的两个潜在机制是功能性内旋肌和麻痹外旋肌之间的肌肉失衡和麻痹肌的纵向生长受损。我们的目标是使用C5-6臂丛神经损伤的计算模型评估这两种机制对横向平面肩部力的综合和孤立影响。
    方法:我们使用计算肌肉骨骼上肢模型对C5-6损伤进行建模。预计因C5-6损伤而神经支配的肌肉被归类为受影响,其余的肩部肌肉被归类为未受影响。为了模拟肌肉失衡,受影响的肌肉没有静息张力,而未受影响的肌肉在最大激活的30%时给予静息张力。为了模拟受损的生长,与正常相比,受影响的肌肉长度减少了30%,而未受影响的肌肉长度保持正常。模拟了四种情况:正常,只有肌肉不平衡,仅增长受损,肌肉失衡和生长受损。评估被动肩关节旋转运动范围和盂肱关节反作用力,以评估姿势和骨畸形。
    结果:所有受损的情况都表现出有限的运动范围,并增加和向后的压迫性盂肱骨关节力。个别地,与肌肉失衡相比,肌肉生长受损会导致更严重的运动范围限制以及更高和更向后的肱骨力。在所有情况下,肌肉失衡和生长受损导致关节运动范围最受限制,关节反作用力最高。
    结论:肌肉失衡和纵向生长受损均导致与临床观察到的畸形一致的运动范围和力的变化。尽管最实质性的影响是由于肌肉生长受损。
    结论:模拟表明,强调纵向生长受损的治疗策略对于减少臂丛神经出生麻痹后的畸形是有必要的。
    OBJECTIVE: Two potential mechanisms leading to postural and osseous shoulder deformity after brachial plexus birth palsy are muscle imbalance between functioning internal rotators and paralyzed external rotators and impaired longitudinal growth of paralyzed muscles. Our goal was to evaluate the combined and isolated effects of these 2 mechanisms on transverse plane shoulder forces using a computational model of C5-6 brachial plexus injury.
    METHODS: We modeled a C5-6 injury using a computational musculoskeletal upper limb model. Muscles expected to be denervated by C5-6 injury were classified as affected, with the remaining shoulder muscles classified as unaffected. To model muscle imbalance, affected muscles were given no resting tone whereas unaffected muscles were given resting tone at 30% of maximal activation. To model impaired growth, affected muscles were reduced in length by 30% compared with normal whereas unaffected muscles remained normal in length. Four scenarios were simulated: normal, muscle imbalance only, impaired growth only, and both muscle imbalance and impaired growth. Passive shoulder rotation range of motion and glenohumeral joint reaction forces were evaluated to assess postural and osseous deformity.
    RESULTS: All impaired scenarios exhibited restricted range of motion and increased and posteriorly directed compressive glenohumeral joint forces. Individually, impaired muscle growth caused worse restriction in range of motion and higher and more posteriorly directed glenohumeral forces than did muscle imbalance. Combined muscle imbalance and impaired growth caused the most restricted joint range of motion and the highest joint reaction force of all scenarios.
    CONCLUSIONS: Both muscle imbalance and impaired longitudinal growth contributed to range of motion and force changes consistent with clinically observed deformity, although the most substantial effects resulted from impaired muscle growth.
    CONCLUSIONS: Simulations suggest that treatment strategies emphasizing treatment of impaired longitudinal growth are warranted for reducing deformity after brachial plexus birth palsy.
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