deficiency

免疫缺陷 41 伴有淋巴细胞增生和自身免疫
  • 文章类型: Journal Article
    背景:儿科姑息治疗(PPC)患者营养不良的风险增加。营养不足也会导致微量营养素缺乏。这些因素会导致体重减轻,发育迟缓,和生活质量差。尽管这些问题普遍存在,PPC患者的微量营养素状态研究有限。这项研究的目的是确定维生素B12和D,铁,铁蛋白,叶酸,钙,磷,PPC患者的镁水平有助于更好地了解他们的微量营养素需求以及饮食和治疗方法的适当管理。
    方法:这是一项单中心观察性横断面回顾性研究。这项研究评估了维生素B12,25-羟基维生素D,铁,铁蛋白,叶酸,钙,磷,PPC患者的镁。根据慢性复杂状况(CCC)v2对患者进行分类,然后进行比较。
    结果:共收集了364例患者中822例住院患者的3,144个微量营养素数据点。在96.9%的患者中发现至少一种微量营养素缺乏。最普遍的缺乏是铁,钙,和磷酸盐。此外,在三分之一的患者中观察到25-羟基维生素D缺乏。钙,镁,磷,叶酸,25-羟维生素D与年龄呈负相关。
    结论:这项研究的结果表明,微量营养素缺乏在PPC患者中非常普遍。这些发现有可能有助于改善患者的营养和治疗管理。
    BACKGROUND: Pediatric palliative care (PPC) patients are at an elevated risk of malnutrition. Nutritional inadequacy can also cause micronutrient deficiencies. These factors can lead to weight loss, stunted growth, and poor quality of life. Despite the prevalence of these issues, limited research exists in the micronutrient status of PPC patients. The purpose of this study was to determine the vitamin B12 and D, iron, ferritin, folate, calcium, phosphorus, and magnesium levels of PPC patients to contribute to a better understanding of their micronutrient needs as well as the appropriate management of diet and treatment approaches.
    METHODS: This was a single-center observational cross-sectional retrospective study. This study evaluated the levels of vitamin B12, 25-hydroxyvitamin D, iron, ferritin, folate, calcium, phosphorus, and magnesium in PPC patients. The patients were classified according to the Chronic Complex Conditions (CCC) v2 and then compared.
    RESULTS: A total of 3,144 micronutrient data points were collected from 822 hospitalizations of 364 patients. At least one micronutrient deficiency was identified in 96.9% of the patients. The most prevalent deficiencies were observed for iron, calcium, and phosphate. In addition, 25-hydroxyvitamin D deficiency was observed in one-third of patients. Calcium, magnesium, phosphorus, folate, and 25-hydroxyvitamin D were negatively correlated with age.
    CONCLUSIONS: The results of this study indicate that micronutrient deficiencies are highly prevalent in PPC patients. These findings have the potential to contribute to improvements in the nutritional and therapeutic management of patients.
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  • 文章类型: Journal Article
    背景:维生素D不足(25OHD,50-75nmoll-1)是健康成年人和精英运动员中的常见问题,并且与肌肉骨骼健康和表现下降有关。然而,很少有研究确定精英准运动员体内维生素D不足的患病率和危险因素。
    方法:电子搜索于2023年1月5日完成,并于2024年6月21日更新,搜索WebofScience,PubMed,Scopus,Cochrane图书馆和EASY(最初是OpenGrey)。为了符合资格标准,检索到的研究需要包括至少一项维生素D生物标志物的基线测量,该基线测量来自国家或国际水平的优秀运动员,因此可以包括所有定量研究设计.使用JoannaBriggs研究所关键评估清单(8项)进行分析性横断面研究,评估偏倚风险。从符合条件的研究中提取数据并绘制图表,带有辅助叙事综合。
    结果:搜索策略检索到3083篇文章,其中10项研究符合纳入标准。总共有n=355名准运动员,在纳入的研究中,其中69.6%为男性。在纳入的十项研究中,n=546个样本来自n=355个不同季节的准运动员,并根据每个单独研究设定的25(OH)D不足和缺乏阈值,其中43.2%的样本被认为不足,而28.1%的样本被认为不足。在冬季,维生素D不足最普遍,为74.1%,相比之下,夏季在准运动员中测得的25(OH)D样本为57.1%。参加室内运动的轮椅运动员也更容易受到低维生素D的影响。
    结论:这篇综述强调,维生素D不足和缺乏在精英级准运动员中非常普遍,全年,在夏季和冬季。因此,这次审查强调了教育的必要性,治疗,以及全年精英准运动员的预防措施。
    背景:以下系统评价是通过PROSPERO国际系统评价前瞻性注册(PROSPERO注册ID号:CRD42022362149)进行的前瞻性注册。
    BACKGROUND: Vitamin D insufficiency (25OHD, 50-75 nmolˑl- 1) is a common issue within healthy adults and elite athletes and is associated with decreased musculoskeletal health and performance. However, few studies have identified the prevalence and risk factors associated with vitamin D insufficiency within elite Para-Athletes.
    METHODS: An electronic search was completed on the 5th January 2023 and updated on the 21st June 2024, searching Web of Science, PubMed, Scopus, Cochrane Library and EASY (originally OpenGrey). To meet the eligibility criteria, retrieved studies were required to include at least one baseline measure of a vitamin D biomarker from elite Para-Athletes performing at national or international levels and therefore all quantitative study designs could be included. Risk of bias was assessed using the Joanna Briggs Institute Critical Appraisal Checklist (8-item) for analytical cross-sectional studies. Data from the eligible studies was extracted and charted, with a supporting narrative synthesis.
    RESULTS: The search strategy retrieved 3083 articles, of which ten studies met the inclusion criteria. In total there were n = 355 Para-Athletes, 69.6% of which comprised of males in the included studies. Across the ten included studies, n = 546 samples were taken from n = 355 Para-Athletes across different seasons and based upon the 25(OH)D insufficiency and deficiency thresholds set by each individual study 43.2% of the samples were considered insufficient and 28.1% deficient. During the winter months vitamin D insufficiency was at its most prevalent at 74.1%, compared to 57.1% in summer of the 25(OH)D samples measured in Para-Athletes. Wheelchair athletes who competed in indoor sports were also more susceptible to low vitamin D.
    CONCLUSIONS: This review has highlighted that vitamin D insufficiency and deficiency is highly prevalent in elite level Para-Athletes, all year, across both summer and winter months. Therefore, this review highlights the need for education, treatment, and preventative measures in elite Para-Athletes throughout the year.
    BACKGROUND: The following systematic review was prospectively registered through PROSPERO International prospective register of systematic reviews (PROSPERO registration ID number: CRD42022362149).
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  • 文章类型: Journal Article
    一些研究表明,维生素缺乏与结核病的发展之间存在关联;然而,确切的影响尚不清楚。本研究旨在阐明不同维生素状态与结核病发生之间的关系。
    检索是使用几个没有语言限制的数据库进行的,以捕获关于结核病和维生素状态的合格研究。汇总赔率比(OR),相对风险(RR),和风险比(HR)与95%置信区间(CIs),以阐明不同维生素状态之间的关系(A,B,D,和E)和结核病的发生。亚组分析,敏感性分析,元回归分析,并进行了Galbraith图,以确定异质性的来源。使用Begg测试检测到潜在的出版偏见,Egger\'stest,以及修整和填充测试。
    我们从数据库搜索中确定了10266条原始记录,本研究考虑了69项符合条件的研究.随机效应模型显示,结核病患者可能表现出维生素A缺乏(OR=10.66,95CI:2.61-43.63,p=.001),而有限的队列研究表明,补充维生素A可以减少结核病的发生。此外,维生素D缺乏被确定为结核病发展的危险因素(RR=1.69,95CI:1.06-2.67,p=.026),与其他组相比,结核病患者的维生素D水平普遍较低(OR=2.19,95CI:1.76-2.73,p<.001)。未检测到发表偏倚。
    这项荟萃分析表明,结核病患者的维生素A和D水平较低,而维生素D缺乏被确定为结核病的危险因素。应建议在社区一级采取更多的随机对照干预措施,以确定特定维生素补充剂与结核病发病之间的关系。
    UNASSIGNED: Several studies have suggested an association between vitamin deficiency and the development of tuberculosis; however, the precise impact remains unclear. This study aimed to elucidate the relationship between distinct vitamin statuses and the occurrence of tuberculosis.
    UNASSIGNED: Retrieval was conducted using several databases without language restrictions to capture the eligible studies on tuberculosis and vitamin status. Pooled odds ratios (ORs), relative risks (RRs), and hazard ratios (HRs) were used with 95% confidence intervals (CIs) to clarify the relationship between the different vitamin statuses (A, B, D, and E) and the occurrence of tuberculosis. Subgroup analysis, sensitivity analysis, meta-regression analysis, and Galbraith plot were performed to determine sources of heterogeneity. Potential publication biases were detected using Begg\'s test, Egger\'s test, and the trim-and-fill test.
    UNASSIGNED: We identified 10,266 original records from our database searches, and 69 eligible studies were considered in this study. The random-effect model showed that people with tuberculosis may exhibit vitamin A deficiency (OR = 10.66, 95%CI: 2.61-43.63, p = .001), while limited cohort studies showed that vitamin A supplementation may reduce tuberculosis occurrence. Additionally, vitamin D deficiency was identified as a risk factor for tuberculosis development (RR = 1.69, 95%CI: 1.06-2.67, p = .026), and people with tuberculosis generally had lower vitamin D levels (OR = 2.19, 95%CI: 1.76-2.73, p < .001) compared to other groups. No publication bias was detected.
    UNASSIGNED: This meta-analysis indicated that people with tuberculosis exhibited low levels of vitamins A and D, while vitamin D deficiency was identified as a risk factor for tuberculosis. More randomized controlled interventions at the community levels should be recommended to determine the association between specific vitamin supplementation and tuberculosis onset.
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  • 文章类型: Journal Article
    背景:维生素D缺乏(VDD)通常与阳光照射不足有关。讽刺的是,最近的证据表明,在斯里兰卡等热带地区的城市地区,患病率上升,在没有全面数据的情况下。这项研究旨在评估城市成年人维生素D水平低的患病率及其对血清钙的影响。
    方法:对1260名35-74岁的成年人进行了一项基于人群的横断面研究,住在科伦坡,斯里兰卡城市最多的地区。他们来自63个行政区划,使用多级,概率与大小成比例,整群抽样。收集非空腹静脉血,不使用止血带。低维生素D(<30.0ng/mL),用化学发光法测定VDD(<20ng/mL)和维生素D不足(20.0-29.9ng/mL),和血清钙使用钙Gen2试剂。
    结果:在人口中(53.3%的女性;平均年龄=51.8岁),低维生素D的患病率为93.9%(95%CI:92.5-95.2).这主要是由于VDD(67.5%;95%CI:64.9.0-70.1%),有一些不足(26.4%;95%CI:24.0-28.9%)。大多数VDD病例(53.9.0%)的严重程度为“轻度”(10.0-<20.0ng/mL),“中度”(12.8%)和“重度”(0.8%)病例较少。女性的VDD患病率最高,35-44岁,生活在“高度城市”地区和泰米尔族。Further,VDD随年龄较大的人群呈下降趋势,虽然女性比男性明显更普遍(72.6%vs.61.7%;p<0.01),在所有年龄组。在9.8%的维生素D低的成年人中观察到低血清钙水平,与正常维生素D的22.4%相比,这意味着可能有维生素D以外的其他因素来维持血清钙水平。
    结论:科伦坡区,代表斯里兰卡的城市环境面临着低维生素D的高患病率,主要是VDD,女性发病率较高,年轻人和高度城市地区。这些发现挑战了热带地区保证最佳维生素D水平的假设;并强调了国家维生素D补充和食品强化计划的必要性。特别是在斯里兰卡等南亚国家的高风险城市环境中。
    BACKGROUND: Vitamin D deficiency (VDD) is conventionally associated with inadequate sunlight exposure. Ironically, recent evidence suggests a rising prevalence in urban areas of tropical regions like Sri Lanka, where comprehensive data are unavailable. This study aimed to estimate the prevalence of low vitamin D status in urban adults and its impact on serum calcium.
    METHODS: A population-based cross-sectional study was conducted among 1260 adults aged 35-74 years, living in Colombo, the most urban district in Sri Lanka. They were recruited from 63 administrative divisions, using multi-stage, probability-proportionate-to-size, cluster sampling. Non-fasting venous blood was collected without tourniquet. Low vitamin D (< 30.0 ng/mL), VDD (< 20 ng/mL) and vitamin D insufficiency (20.0-29.9 ng/mL) were determined using chemiluminescence assay method, and serum calcium using Calcium Gen2 reagent.
    RESULTS: Among the population (53.3% females; mean age = 51.8 years), the prevalence of low vitamin D was 93.9% (95% CI: 92.5-95.2). This was primarily due to VDD (67.5%; 95% CI: 64.9.0-70.1%), with some insufficiency (26.4%; 95% CI: 24.0-28.9%). Most VDD cases (53.9.0%) were \'mild\' (10.0- < 20.0 ng/mL) in severity, with fewer \'moderate\' (12.8%) and \'severe\' (0.8%) cases. Prevalence of VDD was highest in females, aged 35-44-years, living in \'highly urban\' areas and of Tamil ethnicity. Further, VDD showed a decreasing trend with older age groups, while it was significantly more prevalent in females than males (72.6% vs. 61.7%; p < 0.01), across all age groups. Low serum calcium levels were observed in 9.8% of adults with low vitamin D, compared to 22.4% with normal vitamin D, implying that there could be factors other than vitamin D in maintaining serum calcium levels.
    CONCLUSIONS: Colombo District, representing urban settings in Sri Lanka faces a high prevalence of low vitamin D, primarily VDD, with higher rates in females, younger individuals and highly urban areas. These findings challenge assumptions about tropical regions being guaranteed of optimal vitamin D levels; and underscore the need for national vitamin D supplementation and food fortification programs, especially in high-risk urban settings in South Asian countries like Sri Lanka.
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  • 文章类型: Journal Article
    维生素D缺乏是一个严重的健康问题,与许多健康后果有关。这项研究旨在评估知识,态度,以及卡西姆大学医学生的实践,沙特阿拉伯,关于维生素D缺乏。
    在Qassim大学的Unaizah药学院(UCP)和医学学院(UCM)的学生中进行了一项观察性横断面研究,沙特阿拉伯,为期3个月。数据收集使用结构良好的自我管理问卷。采用SPSS22版进行统计分析。采用0/1评分过程来评估参与者的KAP。中点被认为是截止点。
    共收到337份完整回复。大多数参与者(62.3%)是女性。291(86.3%)被认为具有良好的知识,9分的平均得分为6.326分。此外,220(65.2%)的参与者持积极态度,7分的平均得分为4.077分。不幸的是,只有9名(2.6%)参与者表现出令人满意的做法,平均得分为6分中的0.911。女性参与者在知识和态度方面明显优于男性参与者,但在实践方面更糟。在安全的白天时间暴露于阳光被认为是维生素D缺乏的主要原因。近60%的人证实,KSA室内活动和COVID-19封锁可能会最大限度地增加维生素D缺乏症。
    该研究揭示了受性别和研究年份影响的参与者在维生素D知识方面的差距。它建议男学生采取教育措施,以增强他们对维生素D的了解,虽然鼓励女学生优先考虑安全的阳光照射,尽量减少使用雨伞和防晒霜。它还强调了教育机构作为可靠信息来源的作用,以及COVID-19大流行对参与者对维生素D的态度和做法的影响。
    UNASSIGNED: Vitamin D deficiency is a serious health problem that is associated with many health consequences. The study aimed to assess the knowledge, attitudes, and practices of medical students at Qassim University, Saudi Arabia, regarding vitamin D deficiency.
    UNASSIGNED: An observational cross-sectional study was conducted among students of Unaizah Colleges of Pharmacy (UCP) and Medicine (UCM) at Qassim University, Saudi Arabia, over a period of 3 months. A well-structured self-administered questionnaire was used for the data collection. Statistical analysis was applied by using SPSS version 22. A 0/1 scoring process was employed to assess the KAP of the participants. The midpoint is considered the cutoff point.
    UNASSIGNED: A total of 337 complete responses were received. The majority of participants (62.3%) were female. 291 (86.3%) were considered to have good knowledge, with a mean score of 6.326 out of 9. Moreover, 220 (65.2%) of participants had positive attitudes, with a mean score of 4.077 out of 7. Unfortunately, only 9 (2.6%) participants demonstrated satisfactory practices, with a mean score a 0.911 out of 6. Female participants were significantly better than male participants in terms of knowledge and attitudes, but worse in terms of practices. Sun exposure during safe daytime hours is considered the main cause of vitamin D deficiency. Nearly 60% confirmed that KSA indoor activities and the COVID-19 lockdown might maximise vitamin D deficiency.
    UNASSIGNED: The study reveals a gap in vitamin D knowledge among participants influenced by gender and study year. It suggests educational initiatives for male students to enhance their knowledge regarding vitamin D, while female students are encouraged to prioritise safe sun exposure, minimising the use of umbrellas and sunscreen. It also highlights the role of educational institutions as reliable sources of information and the influence of the COVID-19 pandemic on participants\' attitudes and practices towards vitamin D.
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  • 文章类型: Journal Article
    足够的维生素D水平对于生长过程中最佳的骨量形成至关重要。本研究旨在评估(I)性别特异性,特定年龄,和潜在的季节性(春季,夏天,冬季)对25-羟基维生素D(25(OH)D)的儿科循环水平的影响;(ii)确定患有维生素D缺乏(VDD)或不足(VDI)的儿科患者的频率;(iii)量化年龄类别之间的关联,性别,和季节类型以及对VDD和VDI的敏感性,分别。收集了2至18岁儿童(n=1674)的血清25(OH)D水平的实验室数据,这些儿童在2023年1月至6月入住克鲁-纳波卡(罗马尼亚)的大学儿科医院后接受了血液采样。在27%的儿科患者中观察到VDD(<20ng/mL)。在幼儿和学龄前儿童(2-5岁)中,VDD为11%,而学龄儿童(6-11岁)为33%,青少年(12-18岁)为39%。我们发现女性和男性之间维生素D状态的频率存在显着差异(p=0.006)。此外,我们发现维生素D水平与年龄类别(p<0.0001)和季节变化(p=0.03)显著相关.在调整了采血季节后,多项logistic回归模型显示6-11岁儿童(校正后OR=7,95%CI:(4.9,9.4)),12-18岁儿童(校正后OR=14,95%CI:(9.3,19.6)),和女性(校正OR=1.43,95%CI:(1.10,1.86))与较高的VDD几率显着相关。总之,这项研究表明,在6岁以上的儿科患者中,VDD和VDI的频率存在显着差异,根据性别和季节有显著差异,在女孩中以及冬季和春季更明显。
    An adequate vitamin D level is essential for optimal bone mass formation during growth. The present study aimed to assess (i) the sex-specific, age-specific, and potential seasonal (spring, summer, winter) influences on the pediatric circulating levels of 25-hydroxyvitamin D (25(OH)D); (ii) determine the frequency of pediatric patients with vitamin D deficiency (VDD) or insufficiency (VDI); and (iii) quantify the association between age category, sex, and season types and susceptibility to VDD and VDI, respectively. Laboratory data were collected on serum 25(OH)D levels in children aged between 2 and 18 years (n = 1674) who underwent blood sampling following admission to a university pediatric hospital in Cluj-Napoca (Romania) between January and June 2023. VDD (<20 ng/mL) was observed in 27% of pediatric patients. Among toddlers and preschoolers (2-5 years), VDD was 11%, while it was 33% among school-aged children (6-11 years) and 39% among adolescents (12-18 years). We found a significant difference in the frequencies of vitamin D status between females and males (p = 0.006). Also, we found significant associations of vitamin D status with age categories (p < 0.0001) and seasonal variations (p = 0.03). After adjusting for season of blood collection, the multinomial logistic regression model showed that children aged 6-11 years old (adjusted OR = 7, 95% CI: (4.9, 9.4)), children aged 12-18 years old (adjusted OR = 14, 95% CI: (9.3, 19.6)), and females (adjusted OR = 1.43, 95% CI: (1.10, 1.86)) were significantly associated with higher odds of VDD. In conclusion, the study revealed a significant difference in the frequency of VDD and VDI among pediatric patients older than six years, with a significant difference according to sex and season, being more pronounced among girls and during the winter and spring seasons.
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  • 文章类型: Journal Article
    (1)背景:多发性硬化症(MS)是一种慢性,复杂,脱髓鞘疾病与微量元素水平的改变密切相关。尽管关于微量元素在MS中的作用的第一个研究发表在20世纪70年代,五十年来,人们一直不知道微量元素是否可以成为这种异质性神经系统疾病的一部分。(2)材料和方法:为了朝着潜在的解决方案前进,我们进行了系统评价和荟萃分析,以阐明神经重要的必需微量元素的循环水平是否存在差异(锌,Fe,Co,Cu,Mn,和Se)在MS病例和对照之间。(3)结果:与对照组相比,该研究揭示了受MS影响的个体中显著较低的血清/血浆Zn和Fe水平和较高的Cu水平。同时,MS病例和对照组之间的血清/血浆Co水平没有发现显着差异,Mn,或者Se。因此,在MS患者的补充/营养策略中应考虑铁和锌的损失.另一方面,由于高血清Cu水平表明MS患者的血液负担,铜应该从矿物质补充策略中排除。此外,所有三种微量元素(Fe,Zn,和铜)应从病因学的角度考虑,and,最重要的是,应监测其在MS患者血流中的水平.(4)结论:本研究强调了在MS管理中个性化和针对性策略的途径。
    (1) Background: Multiple sclerosis (MS) is a chronic, complex, and demyelinating disease closely associated with altered levels of trace elements. Although the first studies into the role of trace elements in MS were published in the 1970s, for five decades it has remained unknown whether trace elements can be part of this heterogeneous neurological disease. (2) Materials and methods: To drive toward at a potential solution, we conducted a systematic review and meta-analysis to elucidate whether there were differences in circulating levels of neurologically important essential trace elements (Zn, Fe, Co, Cu, Mn, and Se) between MS cases and controls. (3) Results: This study revealed significantly lower serum/plasma Zn and Fe levels and higher Cu levels in MS-affected individuals compared to controls. At the same time, no significant differences were found between the MS cases and controls regarding their serum/plasma levels of Co, Mn, or Se. Thus, the loss of Fe and Zn should be considered in supplementation/nutrition strategies for MS patients. On the other hand, since high serum Cu levels indicate a burden on the bloodstreams of MS patients, Cu should be excluded from mineral supplement strategies. Furthermore, all three trace elements (Fe, Zn, and Cu) should be considered from an etiological point of view, and, most importantly, their levels in the bloodstreams of MS patients should be monitored. (4) Conclusions: This study highlights the way for personalized and targeted strategies in the management of MS.
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  • 文章类型: Case Reports
    背景:17-羟化酶缺乏症是先天性肾上腺增生的最罕见形式,一种影响类固醇生成的疾病,导致激素水平异常.研究表明,17-羟化酶缺乏症与原发性不孕症之间存在明显关联,但治疗该疾病的明确方案尚未确定。
    方法:案例I介绍了一名24岁的白人以色列阿拉伯女性,经历了6年的不孕症。在她第一次去我们诊所之前,她做了三次腹腔镜卵巢囊肿切除术,体外受精周期不成功,并接受联合口服避孕药治疗。她的荷尔蒙档案经过测试,结果导致遗传咨询和非经典先天性肾上腺增生的诊断。她接受了雌二醇治疗,糖皮质激素,和经皮睾丸激素。荷尔蒙水平降低后,开始体外受精周期,患者有自发排卵。在案例II中,一名20岁的白人以色列-阿拉伯女性因月经少而接受不孕症评估。她的生命体征和体检结果正常。对她异常荷尔蒙特征的调查导致她被转诊到基因检测,其中结果显示与病例I相同的基因突变。
    结论:两种情况都突出了该疾病的独特性,其中负责相同酶的基因中的相同突变可以带来不同的表型。病例I为这种罕见疾病提供了潜在的治疗方案。
    BACKGROUND: 17-Hydroxylase deficiency is the rarest form of congenital adrenal hyperplasia, a disorder that affects steroidogenesis, causing abnormal hormone levels. Studies have shown a clear association between 17-hydroxylase deficiency and primary infertility, but a definite protocol to treat the disorder has not been determined yet.
    METHODS: Case I presents a 24-year-old Caucasian Israeli-Arab female who experienced 6 years of infertility. Before her initial visit to our clinic, she underwent three laparoscopic ovarian cystectomies, had an unsuccessful in vitro fertilization cycle, and was treated with combined oral contraceptives. Her hormonal profile was tested, and the results led to genetic counseling and the diagnosis of non-classical congenital adrenal hyperplasia. She was treated with estradiol, glucocorticoids, and transdermal testosterone. After hormonal levels were lowered, in vitro fertilization cycles were initiated, and the patient had a spontaneous ovulation. In case II, a 20-year-old Caucasian Israeli-Arab female presented for infertility evaluation owing to her oligomenorrhea. Her vitals and physical examination had normal results. The investigation of her abnormal hormonal profile led her to be referred to genetic testing, where the results showed the same genetic mutation as seen in case I.
    CONCLUSIONS: Both cases highlight the distinctiveness of the condition, where an identical mutation in the gene responsible for the same enzyme can bring about diverse phenotypes. Case I offers a potential treatment protocol for this rare disorder.
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  • 文章类型: Journal Article
    背景:先前文献中已经报道了2型糖尿病(T2DM)患者血清维生素D3水平低与血糖控制不足之间的显著联系。然而,在我国(也门)T2DM患者中,没有令人兴奋的证据表明糖化血红蛋白(HbA1c)与维生素D水平之间存在关联.本研究旨在探讨资源有限的T2DM患者HbA1c与维生素D水平之间的关系。
    方法:在Al-Raffa中心进行了一项回顾性横断面研究,Ibb,也门在2018年6月至2023年9月期间,包括396例诊断为T2DM的患者。病人的特点,合并症,HbA1c,和维生素D水平是从患者的医学资料中收集的。线性回归分析2型糖尿病患者维生素D缺乏(血清25(OH)D水平<20ng/mL)的相关因素。随后,采用受试者工作特征(ROC)曲线分析检验HbA1c与维生素D水平的相关性.
    结果:平均年龄为44.6±14.6岁,其中大多数(n=227,57.3%)是女性,来自农村地区(n=229,57.8%)。合并症是高血压,血脂异常疾病,和心血管疾病176例(44.4%),63(15.9%),88例(22.2%),分别。平均HbA1c为8.1±2.5%。平均维生素D水平为26.9±16.5ng/mL,260例(65.7%)维生素D低(160例(40.4%)维生素D缺乏和100例(25.3%)维生素D不足)。在回归分析中,肥胖(>30kg/m2)(优势比(OR):299.49;95%置信区间(CI):72.66-1234.42,p<0.0001),HbA1c水平较高(OR:1.61;95%CI:1.26-2.05,p=0.0001),和城市居住(OR:23.98;95%CI:5.62-102.42,p<0.0001)与维生素D缺乏有关。维生素D水平与HbA1c呈负相关,具有统计学意义(相关系数r:-0.5452;95%CI:-0.6109~-0.4720,p<0.0001)。使用ROC分析,血清维生素D值≤18.42ng/ml是预测高血糖的最佳临界点(曲线下面积:0.633,95%CI:0.672~0.770,灵敏度:52%,特异性:84.71%,约登指数:0.3671,p<0.001)。基于这个截止,39.4%的个体(正常血糖组为37.5%,高血糖组为90.9%)缺乏维生素D。
    结论:在这项研究中,低维生素D在T2DM患者中很常见,尤其是那些血糖控制不佳的人。我们观察到HbA1c水平之间的联系,城市居住权,2型糖尿病患者的BMI与维生素D缺乏。这种关联的特点是维生素D水平低和HbA1c升高。此外,我们发现,在中度一致的T2DM患者中,血清维生素D值≤18.42ng/ml是预测高血糖的最佳临界点.为了控制他们的疾病,2型糖尿病患者应按照处方服用药物,并过上健康的生活方式.这将增加他们的整体健康,尤其是他们的维生素D水平。
    BACKGROUND: Significant links between low serum levels of vitamin D3 and insufficient glycemic control in patients with type 2 diabetes mellitus (T2DM) have been reported previously in the literature. However, there is no exciting evidence on the association between glycated hemoglobin (HbA1c) and vitamin D levels in T2DM individuals in our nation (Yemen). This study aimed to investigate the relationship between HbA1c and vitamin D levels in T2DM patients in a resource-limited setting.
    METHODS: A retrospective cross-sectional study was conducted at the Al-Raffa Center, Ibb, Yemen between June 2018 and September 2023 including 396 patients diagnosed with T2DM. The patient characteristics, comorbidities, HbA1c, and vitamin D levels were gathered from patients\' medical profiles. Linear regression analysis was used to find the factors associated with vitamin D deficiency (serum 25(OH)D levels < 20 ng/mL) among T2DM patients. Subsequently, the correlation between HbA1c and vitamin D levels was examined using receiver operating characteristic (ROC) curve analysis.
    RESULTS: The mean age was 44.6 ±14.6 years and most of them (n= 227, 57.3%) were female and from a rural area (n= 229, 57.8%). Comorbidities were hypertension, dyslipidemia disease, and cardiovascular disease in 176 (44.4%), 63 (15.9%), and 88 (22.2%) cases, respectively. The mean HbA1c was 8.1 ±2.5%. The mean vitamin D level was 26.9 ±16.5 ng/mL and low vitamin D was present in 260 (65.7%) (vitamin D deficiency in 160 (40.4%) and vitamin D insufficiency in 100 (25.3%) cases). In regression analysis, obesity (>30 kg/m2) (odds ratio (OR): 299.49; 95% confidence interval (CI): 72.66 - 1234.42, p <0.0001), higher HbA1c levels (OR: 1.61; 95% CI: 1.26 - 2.05, p =0.0001), and urban residence (OR: 23.98; 95% CI: 5.62 - 102.42, p <0.0001) were associated with vitamin D deficiency. There was a negative correlation between the vitamin D level and HbA1c which was statistically significant (correlation coefficient r: -0.5452; 95% CI: -0.6109 to -0.4720, p <0.0001). Using the ROC analysis, the serum vitamin D value of ≤18.42 ng/ml was the best cut-off point to predict hyperglycemia (area under the curve: 0.633, 95% CI: 0.672 to 0.770, sensitivity: 52%, specificity: 84.71 %, Yoden\'s index: 0.3671, p <0.001). Based on this cut-off, 39.4% of individuals (37.5% in the normoglycemic group and 90.9% in the hyperglycemic group) were vitamin D deficient.
    CONCLUSIONS: In this study, low vitamin D was common among T2DM patients, especially those with poor glycemic control. We observed a link between HbA1c levels, urban residency, and BMI with vitamin D deficiency in T2DM patients. The association was distinguished by low vitamin D levels and elevated HbA1c. Additionally, we found that the serum vitamin D value of ≤18.42 ng/ml was the best cut-off point to predict hyperglycemia in T2DM patients with moderate agreement. To manage their disease, patients with T2DM should take their medications as prescribed and live a healthy lifestyle. This will increase their overall health, especially their vitamin D levels.
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  • 文章类型: Journal Article
    小肠细菌过度生长(SIBO)是小肠的一种病理,可能使个体容易遭受各种营养缺乏。关于SIBO的特定亚型是否鲜为人知,如氢占优势(H+),甲烷占优势(M+),或氢/甲烷占优势(H+/M+),影响SIBO患者的营养状况和饮食摄入。这项研究的目的是研究生化参数之间可能的相关性,膳食营养素摄入量,和不同的SIBO亚型。这项观察性研究包括67例新诊断为SIBO的患者。生化参数和饮食研究利用实验室测试和食物记录,分别。H+/M+组血清维生素D水平低(p<0.001),低血清铁蛋白(p=0.001)和低纤维摄入量(p=0.001)。M+组与高血清叶酸(p=0.002)、低纤维(p=0.001)和低乳糖(p=0.002)相关。H+组与低乳糖摄入相关(p=0.027)。这些结果表明,SIBO的亚型可能对饮食摄入有不同的影响,导致一系列生化缺陷。相反,特定的饮食模式可能会导致SIBO亚型的发展。营养状况和饮食的评估,随着SIBO亚型的诊断,被认为是SIBO治疗的关键组成部分。
    Small intestinal bacterial overgrowth (SIBO) is a pathology of the small intestine and may predispose individuals to various nutritional deficiencies. Little is known about whether specific subtypes of SIBO, such as the hydrogen-dominant (H+), methane-dominant (M+), or hydrogen/methane-dominant (H+/M+), impact nutritional status and dietary intake in SIBO patients. The aim of this study was to investigate possible correlations between biochemical parameters, dietary nutrient intake, and distinct SIBO subtypes. This observational study included 67 patients who were newly diagnosed with SIBO. Biochemical parameters and diet were studied utilizing laboratory tests and food records, respectively. The H+/M+ group was associated with low serum vitamin D (p < 0.001), low serum ferritin (p = 0.001) and low fiber intake (p = 0.001). The M+ group was correlated with high serum folic acid (p = 0.002) and low intakes of fiber (p = 0.001) and lactose (p = 0.002). The H+ group was associated with low lactose intake (p = 0.027). These results suggest that the subtype of SIBO may have varying effects on dietary intake, leading to a range of biochemical deficiencies. Conversely, specific dietary patterns may predispose one to the development of a SIBO subtype. The assessment of nutritional status and diet, along with the diagnosis of SIBO subtypes, are believed to be key components of SIBO therapy.
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