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Safe Infant Sleep Practices and Associated Factors Among Mothers Attending Vaccination Service at Dessie Town Governmental Health Care Facilities, 2021. 2021 年在德西镇政府卫生保健机构参加疫苗接种服务的母亲的婴儿安全睡眠做法及相关因素。
IF 1.7 Q2 PEDIATRICS Pub Date : 2024-09-02 eCollection Date: 2024-01-01 DOI: 10.1177/11795565241275854
Debrnesh Goshiye, Sisay Gedamu

Background: Babies spend a lot of their time with sleeping thus they need to have a safe sleep. Inadequate sleeping arrangements might heighten the likelihood of Sudden Unexpected mortality in Infancy (SUDI), including SIDS and lethal sleeping mishaps, which continue to be the most prevalent cause of mortality for individuals aged 1 to 1 year.

Objective: The study aimed to assess safe baby sleep practices and associated factors among women receiving immunizations at government healthcare facilities in Dessie Town.

Design: An institution-based cross-sectional study.

Methods: We conducted interviews with a total of 392 mothers using semi-structured questionnaires at public health facilities of Dessie town, in 2021. After the data were entered into the EPI data version 3.1, SPSS 23 was utilized for the analysis. Additionally, multivariate and binary logistic regression analyses were carried out. In multivariate analysis, a P-value less than .05 indicate a significant association.

Results: About 38.3%, 21.9%, and 14.7% had safe infant sleep practice regarding sleep position, no soft-bedding and sleep arrangement respectively. Significant association was observed between safe infant sleep position with baby age less than 3 months (AOR = 2.96, 95% CI = 1.50-5.84), baby age of 7 to 9 months (AOR = 3.84, 95% CI = 2.15-6.85), maternal level of education(AOR = 4.48, 95% CI = 1.87-10.76), relative/friend as their source of information (AOR = 1.98, 95% CI = 1.14-3.44), grandmother as their source of information (AOR = 1.89, 95% CI = 1.00-3.57).Additionally, baby age 4 to 6 months (AOR = 0.93, 95% CI = 0.19-0.94) and maternal level of education (AOR = 0.19, 95% CI = 0.04-0.92) shows a significant safe infant bed arrangement practice. Furthermore, baby age of 10 to 12 months (AOR = 0.49, 95% CI = 0.25-0.98) and maternal education level of college and above (AOR = 3.44, 95% CI = 1.18-10.03) also shows significant association with safe soft-bedding practice.

Conclusion: Mothers' safe infant sleep practices were found to be low in Dessie town. Therefore, efforts should be made to enhance mothers' attentiveness and engagement. This will help them follow healthy infant sleep practices.

背景:婴儿大部分时间都在睡觉,因此他们需要一个安全的睡眠环境。不适当的睡眠安排可能会增加婴儿期意外猝死(SUDI)的可能性,包括婴儿猝死综合症(SIDS)和致命的睡眠事故,这仍然是导致1至1岁婴儿死亡的最普遍原因:本研究旨在评估德西镇政府医疗机构中接受免疫接种的妇女的婴儿安全睡眠习惯及相关因素:设计:基于机构的横断面研究:2021 年,我们在德西镇的公共医疗机构使用半结构化问卷对 392 名母亲进行了访谈。数据输入 EPI 数据 3.1 版后,使用 SPSS 23 进行分析。此外,还进行了多变量和二元逻辑回归分析。在多变量分析中,P 值小于 0.05 表示存在显著关联:约 38.3%、21.9% 和 14.7%的婴儿在睡眠姿势、不使用软被褥和睡眠安排方面有安全睡眠习惯。婴儿安全睡眠姿势与婴儿年龄小于 3 个月(AOR = 2.96,95% CI = 1.50-5.84)、婴儿年龄为 7 至 9 个月(AOR = 3.84,95% CI = 2.15-6.85)、母亲教育水平(AOR = 4.48,95% CI = 1.87-10.76)、信息来源为亲戚/朋友(AOR = 1.此外,4 到 6 个月大的婴儿(AOR = 0.93,95% CI = 0.19-0.94)和母亲的教育水平(AOR = 0.19,95% CI = 0.04-0.92)也显示出婴儿安全睡床的重要性。此外,婴儿年龄为 10 至 12 个月(AOR = 0.49,95% CI = 0.25-0.98)和母亲教育程度为大专及以上(AOR = 3.44,95% CI = 1.18-10.03)也与婴儿安全软床铺设做法有显著关联:结论:在德西镇,母亲的婴儿安全睡眠实践较少。因此,应努力提高母亲的关注度和参与度。这将有助于她们遵循健康的婴儿睡眠方式。
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引用次数: 0
Oral Health in Children with Chronic Kidney Disease, Hemodialysis, and Renal Transplantation: A Comprehensive Narrative Review of the Oral Manifestations and Dental Implications. 慢性肾病、血液透析和肾移植患儿的口腔健康:口腔表现和牙科影响的综合叙述性回顾。
IF 1.7 Q2 PEDIATRICS Pub Date : 2024-08-27 eCollection Date: 2024-01-01 DOI: 10.1177/11795565241271689
Ghada A Elhusseiny, Wafaa Saleh

Chronic kidney disease (CKD) in children presents multifaceted challenges, impacting various aspects of health, including oral health. This narrative review provides a comprehensive synthesis of literature focusing on the oral health status of pediatric CKD patients, encompassing oral manifestations, dental considerations, and management challenges associated with hemodialysis and kidney transplantation. A comprehensive search strategy was employed, utilizing databases such as PubMed, Scopus, Web of Science, and Google Scholar, to identify relevant literature on oral manifestations in children with CKD, including those undergoing hemodialysis or renal transplantation. Search terms were carefully selected to capture studies examining enamel hypoplasia, dental caries, delayed tooth eruption, gingival diseases, periodontal diseases, radiographic alterations, craniofacial development, dry mouth, and changes in the oral mucosa. Our narrative review meticulously selected articles through a systematic process. Ultimately, 12 studies meeting the inclusion criteria were included in the review. Relevant data from each included study were independently extracted and synthesized, focusing on oral manifestations and their implications in pediatric CKD patients. The synthesized findings were organized and presented in a structured manner within the review article, considering their clinical implications and informing recommendations for dental management of children with CKD. This article highlights the importance of a coordinated effort between nephrologists, dentists, and other healthcare professionals in providing holistic care for pediatric CKD patients. A comprehensive understanding of the oral health status of these children, along with proactive dental management strategies, contributes to improved overall health outcomes and a better quality of life. This review aims to serve as a valuable resource for the oral healthcare providers involved in the care of pediatric CKD patients.

儿童慢性肾脏病(CKD)带来了多方面的挑战,影响着健康的各个方面,包括口腔健康。这篇叙述性综述全面综合了有关儿童慢性肾脏病患者口腔健康状况的文献,包括与血液透析和肾移植相关的口腔表现、牙科注意事项和管理挑战。我们采用了一种全面的检索策略,利用 PubMed、Scopus、Web of Science 和 Google Scholar 等数据库来确定有关 CKD 儿童(包括接受血液透析或肾移植的儿童)口腔表现的相关文献。我们仔细选择了检索词,以获取有关釉质发育不全、龋齿、牙齿萌出延迟、牙龈疾病、牙周疾病、放射学改变、颅面部发育、口干以及口腔粘膜变化的研究。我们的叙事性综述通过系统的程序对文章进行了细致的筛选。最终,12 项符合纳入标准的研究被纳入综述。我们对每项纳入研究的相关数据进行了独立提取和综合,重点关注儿童慢性肾脏病患者的口腔表现及其影响。综述文章以结构化的方式组织和呈现了这些综合结果,考虑了其临床意义,并为 CKD 儿童的牙科管理提供了参考建议。这篇文章强调了肾脏科医生、牙科医生和其他医疗保健专业人员在为儿童慢性肾脏病患者提供整体护理时协调努力的重要性。全面了解这些儿童的口腔健康状况,并采取积极的牙科管理策略,有助于改善总体健康状况和提高生活质量。本综述旨在为参与护理儿科慢性肾脏病患者的口腔医疗服务提供者提供宝贵的资源。
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引用次数: 0
Pediatric Uropathogens and their Antimicrobial Susceptibility Pattern: Experience from an Impoverished District of Karachi, Pakistan. 小儿尿路病原体及其抗菌药敏感性模式:巴基斯坦卡拉奇贫困地区的经验。
IF 1.7 Q2 PEDIATRICS Pub Date : 2024-06-25 eCollection Date: 2024-01-01 DOI: 10.1177/11795565241254321
Moiz Ahmed Khan, Nosheen Shakeel

Introduction: Urinary tract infection (UTI) is the most common infection of the pediatric age group. Several factors linked to higher prevalence include poor personal hygiene, improper sanitation, lower socioeconomic status, and malnourishment. In addition to having a worse quality of life, the 1.8 million children who live in Karachi's Korangi district are routinely exposed to such factors.

Objectives: The study aims to evaluate the frequency of UTI and distribution of uropathogens along with their antimicrobial susceptibility pattern in patients presenting to a pediatric tertiary care center in the Korangi district of Karachi, Pakistan.

Design: The study employed an observational cross-sectional design.

Methods: The study was conducted at the Microbiology laboratory of Sindh Institute of Child Health and Neonatology, Karachi, Pakistan from 1st January to 15th August 2023. Urine samples of patients 1 to 16 years of age were collected via midstream clean catch method and of patients from birth up to 1 year were collected in urine collection bags. The samples were cultured on Cystine Lactose Electrolyte Deficient (CLED) agar and antibiotic susceptibility testing was performed using the Kirby-Bauer Disc Diffusion method.

Results: A total of 457 urine samples were collected, of which 90 (19.7%) were positive for significant uropathogens. With a mean age of 4.6 years, majority of the culture-positive patients were female (n = 72; 80%). Enterobacterales were the most frequently isolated (n = 88; 95.6%), of which Escherichia coli was the most common (73.9%; n = 68). Citrobacter (n = 7; 7.6%), Klebsiella (n = 6; 6.5%), Serratia (n = 4; 4.3%), Proteus (n = 2; 2.2%), Salmonella (n = 2; 2.2%), and Enterobacter (n = 1; 1.1%) were among the other Enterobacterales isolated. Meropenem and imipenem were the most effective in isolates from Enterobacterales (n = 88) followed by amikacin (n = 84), ciprofloxacin (n = 75), and piperacillin-tazobactam (n = 70). Ceftriaxone and cefixime exhibited moderate susceptibility (n = 69 and 52) whereas, amoxicillin-clavulanate was the least susceptible (n = 3).

Conclusion: We report high frequency of UTI in our pediatric population with uropathogens and associated antimicrobial susceptibility pattern confirming to the existing trends of pediatric UTIs in Pakistan. In addition to valuable insights for treating patients under similar conditions, our study serves as a catalyst for further multi-center research in this area.

简介尿路感染(UTI)是儿科最常见的感染。发病率较高的几个相关因素包括个人卫生差、环境卫生不当、社会经济地位较低以及营养不良。生活在卡拉奇科兰吉区的 180 万儿童除了生活质量较差外,还经常受到这些因素的影响:本研究旨在评估巴基斯坦卡拉奇 Korangi 区一家儿科三级护理中心就诊患者的尿路感染频率、尿路病原体分布及其抗菌药敏感性模式:研究采用观察性横断面设计:研究于 2023 年 1 月 1 日至 8 月 15 日在巴基斯坦卡拉奇信德儿童健康和新生儿研究所微生物实验室进行。1 至 16 岁患者的尿液样本通过中流清洁采集法收集,出生至 1 岁患者的尿液样本用尿液收集袋收集。样本在胱氨酸乳糖电解质缺乏(CLED)琼脂上进行培养,并采用柯比鲍尔盘扩散法进行抗生素药敏试验:共收集了 457 份尿液样本,其中 90 份(19.7%)对重要的尿路病原体呈阳性反应。培养阳性患者的平均年龄为 4.6 岁,大多数为女性(72 人;80%)。最常分离到的是肠杆菌(88;95.6%),其中最常见的是大肠埃希菌(73.9%;68)。其他分离出的肠杆菌科细菌包括柠檬酸杆菌(n = 7;7.6%)、克雷伯氏菌(n = 6;6.5%)、沙雷氏菌(n = 4;4.3%)、变形杆菌(n = 2;2.2%)、沙门氏菌(n = 2;2.2%)和肠杆菌(n = 1;1.1%)。美罗培南和亚胺培南对分离出的肠杆菌(88 个)最有效,其次是阿米卡星(84 个)、环丙沙星(75 个)和哌拉西林-他唑巴坦(70 个)。头孢曲松和头孢克肟表现出中等敏感性(n = 69 和 52),而阿莫西林-克拉维酸的敏感性最低(n = 3):我们报告了我国儿科人群中尿路感染病原体的高发率以及相关抗菌药的药敏模式,这与巴基斯坦儿科尿路感染的现有趋势相吻合。我们的研究不仅为类似情况下的患者治疗提供了有价值的见解,还促进了这一领域的多中心进一步研究。
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引用次数: 0
Hypoalkaline Phosphatemia Dental Type: A Case Report. 低碱性磷酸血症牙科类型:病例报告
IF 1.5 Pub Date : 2024-06-17 eCollection Date: 2024-01-01 DOI: 10.1177/11795565241256615
Weihua Liu, Xiaoyang Min, Hongli Wang, Qianqian Lu, Lulu Li, Haiping Chu

Mutations in dental hypophosphatasia (HPP) have been reported less than those in other types of HPP because the symptoms are mild or the dental lesions are only partial manifestations of other types of HPP. In this case, we observe the clinical manifestation of dental hypoalkaline phosphatase by analyzing the genetic mutation and biochemical parameters in child. The clinical data of the child with odonto HPP were collected and analyzed. The blood samples of the child and his parents were sequenced and verified using Sanger through a specific probe capture and high-throughput second-generation sequencing technology. Major clinical manifestations in the patient were early loss of deciduous teeth, significantly lower serum alkaline phosphatase (ALP) levels, lower active vitamin D, and increased blood phosphorus, but no abnormality was observed in the oral X-ray. Two missense mutations-c.542C>T (p. ser181leu) and c.644 T> C (p.Ile215Thr)-were found in exon 6 of the ALPL gene from the father and mother, respectively. The clinical manifestations of odonto hypophosphatasia were early loss of deciduous teeth and significantly reduced serum ALP levels. Of 2 mutations-c.542C>T (p.ser181leu) and c.644 T> C (p.Ile215Thr)-in the ALPL gene, c.644 T> C (p.Ile215Thr) was a new mutation.

牙源性低碱性磷酸酶症(HPP)基因突变的报道少于其他类型的 HPP,因为其症状轻微或牙齿病变只是其他类型 HPP 的部分表现。在本病例中,我们通过分析患儿的基因突变和生化指标,观察牙齿低碱性磷酸酶的临床表现。我们收集并分析了患有牙源性低碱性磷酸酶的患儿的临床数据。通过特异性探针捕获和高通量二代测序技术,使用 Sanger 对患儿及其父母的血样进行了测序和验证。该患者的主要临床表现为乳牙早失、血清碱性磷酸酶(ALP)水平明显降低、活性维生素 D 降低和血磷升高,但口腔 X 光检查未发现异常。在父亲和母亲的 ALPL 基因第 6 外显子中分别发现了两个错义突变-c.542C>T(p. ser181leu)和 c.644 T> C(p.Ile215Thr)。奥多托低磷酸盐症的临床表现为早期乳牙脱落和血清 ALP 水平显著降低。在ALPL基因的两个突变-c.542C>T(p.ser181leu)和c.644 T> C(p.Ile215Thr)中,c.644 T> C(p.Ile215Thr)是一个新的突变。
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引用次数: 0
Determinants and Magnitude of Neonatal Sepsis at Hiwot Fana Comprehensive Specialized University Hospital, in Eastern Ethiopia: A Cross-Sectional Study. 埃塞俄比亚东部 Hiwot Fana 综合大学专科医院新生儿败血症的决定因素和严重程度:一项横断面研究。
IF 1.5 Pub Date : 2024-03-28 eCollection Date: 2024-01-01 DOI: 10.1177/11795565241242656
Astawus Alemayehu, Mohammed Yusuf, Abebaw Demissie, Mekuria Edae Muleta

Background: Neonatal sepsis is a serious blood bacterial infection in neonates at the age of equal to or less than 28 days of life, and it's still the major significant cause of death and long-term morbidity in developing countries.

Objective: This study aimed to assess the prevalence and related factors with neonatal sepsis among newborns admitted to the neonatal intensive care unit at Hiwot Fana Comprehensive Specialized University Hospital, Harar, Ethiopia.

Methods: An institutional-based retrospective cross-sectional study design was conducted among 386 neonates admitted to Neonatal Intensive Care Unit from September 2017 to August 2019. A systematic random sampling method was used. Data were analyzed using SPSS V.26. Descriptive summary statistics were done. Bivariate regression and multivariate analysis were computed. Variables with P-value <.05 were declared as having a statistically significant association.

Result: The prevalence of neonatal sepsis was 53.1%. Among the total neonates who had sepsis, 67.8% had early neonatal sepsis. Among neonatal factors, preterm neonates (AOR: 8.1, 95%CI: 2.1, 31.2), birth asphyxia (AOR: 4.7, 95%CI: 1.6, 13.6); and among maternal factors, urban residence (AOR: 0.26, 95%CI: 0.1, 0.5), antenatal care attendance (AOR: 0.32, 95%CI: 0.2, 0.6), spontaneous vaginal delivery (AOR: 0.047, 95%CI: 0.01, 0.2), and maternal antibiotic use (AOR: 0.39; 95%CI: 0.2, 0.8) were found to have significant association with neonatal sepsis.

Conclusion: Overall, the magnitude of neonatal sepsis was high. Provision of neonatal and obstetrics care as per standard during prenatal, intranatal, and postnatal periods is needed. Training of health professionals on infection prevention and safe delivery practice should be provided.

背景:新生儿败血症是指新生儿在出生后28天以内发生的严重血液细菌感染,它仍然是发展中国家新生儿死亡和长期发病的主要原因:本研究旨在评估埃塞俄比亚哈拉尔 Hiwot Fana 综合专业大学医院新生儿重症监护室收治的新生儿败血症的发病率和相关因素:对2017年9月至2019年8月期间新生儿重症监护室收治的386名新生儿进行了一项基于机构的回顾性横断面研究设计。采用系统随机抽样方法。数据使用 SPSS V.26 进行分析。进行了描述性汇总统计。计算了二元回归和多元分析。变量与 P 值结果:新生儿败血症的发病率为 53.1%。在所有患有败血症的新生儿中,67.8%患有早期新生儿败血症。在新生儿因素中,早产新生儿(AOR:8.1,95%CI:2.1,31.2)、出生窒息(AOR:4.7,95%CI:1.6,13.6);在产妇因素中,城市居民(AOR:0.26,95%CI:0.1,0.5)、产前护理(AOR:0.32,95%CI:0.2,0.6)、自然阴道分娩(AOR:0.047,95%CI:0.01,0.2)和产妇使用抗生素(AOR:0.39;95%CI:0.2,0.8)与新生儿败血症有显著相关性:总体而言,新生儿败血症的发病率较高。需要在产前、产中和产后按照标准提供新生儿和产科护理。应为医护人员提供预防感染和安全分娩方面的培训。
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引用次数: 0
Clinical Spectrum of Hereditary Tyrosinemia Type 1 in a Cohort of Pakistani Children. 一组巴基斯坦儿童的遗传性酪氨酸血症 1 型临床表现。
IF 1.5 Pub Date : 2024-03-06 eCollection Date: 2024-01-01 DOI: 10.1177/11795565241236176
Sabeen Abid Khan, Misbah Fakih, Nida Taufiq, Afaaf Ahmerin, Asfand Bangash, Munir Iqbal Malik

Background: Hereditary Tyrosinemia Type 1 (HT1), a rare autosomal recessive metabolic disorder, arises from fumarylacetoacetate (FAH) enzyme deficiency, resulting in toxic metabolite buildup. It manifests in acute, subacute, and chronic forms, with early diagnosis and Nitisinone treatment being vital.

Objectives: The study aims to highlight the different clinical presentations of Hereditary Tyrosinemia type 1 in a cohort of Pakistani children.

Design: Retrospective observational study.

Methodology: All patients diagnosed with HT1 at Shifa International Hospital, Islamabad and Pak Emirates Military Hospital, Rawalpindi between 2010 and 2023 were included. Information was collected regarding age, gender, symptoms, physical signs, and laboratory results.

Results: The study identified 6 cases of HT1. The average age at presentation was 8 months, with a mean delay in diagnosis of 26.8 months. Males were 4 (66.7%) and 2 (33.3%) were females. All patients had underlying liver disease presenting as abdominal distension with hepatosplenomegaly and accompanying growth failure. Four cases presented with rickets, 2 of which had hypophosphatemic rickets. Urine for succinylacetone was raised in all patients. Alpha fetoprotein was raised but hepatocellular carcinoma was diagnosed in 1 patient only. Low protein diet, and vitamin supplements were used for management. Five of the 6 patients died within 2 years of diagnosis.

Conclusion: Delayed referrals and unavailability of Nitisinone are the major challenges in diagnosing and treating HT1 in Pakistan.

背景:遗传性酪氨酸血症 1 型(HT1)是一种罕见的常染色体隐性遗传代谢性疾病,由富马酸乙酰乙酸酯(FAH)酶缺乏引起,导致有毒代谢物积聚。它有急性、亚急性和慢性三种表现形式,早期诊断和尼替西酮治疗至关重要:本研究的目的是在一组巴基斯坦儿童中强调遗传性酪氨酸血症 1 型的不同临床表现:设计:回顾性观察研究:纳入2010年至2023年期间在伊斯兰堡希法国际医院和拉瓦尔品第巴阿联酋军事医院确诊为遗传性酪氨酸血症1型的所有患者。收集了有关年龄、性别、症状、体征和实验室结果的信息:研究发现了 6 例 HT1。平均发病年龄为 8 个月,平均诊断延迟 26.8 个月。男性 4 例(66.7%),女性 2 例(33.3%)。所有患者都有潜在的肝脏疾病,表现为腹胀、肝脾肿大,并伴有生长发育障碍。4例患者出现佝偻病,其中2例为低磷性佝偻病。所有患者尿液中的琥珀酰丙酮含量均升高。甲胎蛋白升高,但只有一名患者确诊为肝细胞癌。治疗中采用了低蛋白饮食和维生素补充剂。6 名患者中有 5 人在确诊后 2 年内死亡:结论:转诊延迟和尼替西酮的缺乏是巴基斯坦诊断和治疗 HT1 的主要挑战。
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引用次数: 0
Familial Psychomotor Delay of an Uncommon Cause: Type II Congenital Methemoglobinemia. 原因不明的家族性精神运动发育迟缓:第二型先天性高铁血红蛋白血症。
IF 1.5 Pub Date : 2024-01-31 eCollection Date: 2024-01-01 DOI: 10.1177/11795565241229007
Hager Barakizou, Selma Chaieb

Methemoglobinemia is due to oxidization of divalent ferro-iron of hemoglobin to ferri-iron of methemoglobin (MetHb) which is incapable of transferring oxygen to tissues. This disease may be acquired by intoxication with oxidizing agents or inherited with a mutation of CYB5R3, the gene coding for the methemoglobin reductase or cytochrome B5 reductase 3 responsible for the reduction of MetHb to hemoglobin. We report the case of 2 sisters aged respectively of 15 and 8 months. They were born to a second-degree consanguineous marriage with a history of precocious and unexplained deaths in 3 relatives. Both sisters presented neurological features including psychomotor retardation, microcephaly, and axial hypotonia. Cerebral magnetic resonance imaging revealed cerebral atrophy in both cases associated with hypoplasia of the corpus callosum in the younger child. The association of neurological disability, cyanosis, and hypoxemia prompted a search for methemoglobinemia, with MetHB levels respectively of 26% and 15.8%in the 2 sisters. Initial treatment was based on methylene blue, then ascorbic acid. The genetic study revealed a c.463+8G>C mutation of CYB5R3 confirming the diagnosis of methemoglobinemia type II. The diagnosis of methemoglobinemia, although rare, should be considered in the presence of psychomotor retardation with cyanosis and subacute onset hypoxemia, especially in the presence of a family history.

高铁血红蛋白血症是由于血红蛋白中的二价铁被氧化成高铁血红蛋白(MetHb),而高铁血红蛋白无法将氧气输送到组织中。这种疾病可能是通过氧化剂中毒而获得的,也可能是通过 CYB5R3 基因突变而遗传的。CYB5R3 是高铁血红蛋白还原酶或细胞色素 B5 还原酶 3 的编码基因,负责将高铁血红蛋白还原成血红蛋白。我们报告了两姐妹的病例,她们的年龄分别为 15 个月和 8 个月。她们出生于二等近亲结婚家庭,三位亲属均有早产和不明原因死亡史。姐妹俩都有神经系统特征,包括精神运动发育迟缓、小头畸形和轴性肌张力低下。脑磁共振成像显示,两例患儿均出现脑萎缩,其中年幼的患儿胼胝体发育不良。神经系统残疾、发绀和低氧血症的关联促使人们寻找高铁血红蛋白血症,两姐妹的高铁血红蛋白水平分别为 26% 和 15.8%。最初的治疗以亚甲蓝为主,然后是抗坏血酸。基因研究显示,CYB5R3 基因突变为 c.463+8G>C,确诊为 II 型高铁血红蛋白症。高铁血红蛋白血症虽然罕见,但在出现精神运动迟滞伴发绀、亚急性低氧血症时,尤其是有家族史时,应考虑高铁血红蛋白血症的诊断。
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引用次数: 0
Lack of Association Between Depression and Subclinical Hypothyroidism in Adolescents Presenting for Routine Physical Examinations. 在接受常规体检的青少年中,抑郁与亚临床甲状腺机能减退症之间没有关联。
IF 1.5 Pub Date : 2024-01-27 eCollection Date: 2024-01-01 DOI: 10.1177/11795565231220503
Mohan Kumaratne, Franck Vigneron, Jasmine Cisneros, Vinodh Rajapakse

Background: There are conflicting results in the existing studies regarding the association between depression and subclinical hypothyroidism in adolescents. Subclinical hypothyroidism is defined as elevated thyroid stimulating hormone (TSH) levels above the reference range without signs or symptoms of hypothyroidism.

Objectives: The focus of this study is to determine whether there is any association between depression and subclinical hypothyroidism, (as defined by the serum TSH levels) in a population of healthy adolescents.

Design: Quantitative-based cross-sectional study of a representative subset of the adolescent population.

Methods: We carried out a cross-sectional study to determine the association between major depressive disorder (MDD) and subclinical hypothyroidism, in adolescents presenting for annual physical examinations during the peak period of the COVID-19 pandemic in the USA, a period deemed high for adolescent depression. All the adolescents were screened for depression by the PHQ-9 screening tool and had their TSH measured.

Results: Of the 304 subjects analyzed, 179 (58.88%) were minimally or not depressed according to the Patient Health Questionnaire (PHQ-9) screening tool (mean PHQ 1.80 ± 1.49). 70 (23.03%) had mild depression (mean PHQ 6.59 ± 1.46), 50 (16.45%) had moderate depression (mean PHQ 13.70 ± 2.75), and 5 (1.64%) had severe depression (mean PHQ 21.40 ± 1.67). Mean TSH values were 1.93 ± 0.99, 1.77 ± 1.05, 2.10 ± 0.98, and 1.57 ± 0.32 mIU/L, respectively in the four groups. All values were within the recommended range of 0.50 to 4.30 mIU/L, without statistically significant inter-group differences.

Conclusion: We conclude that there is no statistically significant association between depression and subclinical hypothyroidism, in a population of adolescents presenting for physical examinations, and if the screening for depression by the PHQ-9 tool indicates depression, a screening TSH test for subclinical hypothyroidism is not justified.

背景:关于青少年抑郁症与亚临床甲状腺功能减退症之间的关系,现有研究的结果相互矛盾。亚临床甲状腺机能减退的定义是促甲状腺激素(TSH)水平升高超过参考范围,但没有甲状腺机能减退的症状或体征:本研究的重点是确定在健康青少年群体中,抑郁症与亚临床甲状腺机能减退(由血清促甲状腺激素水平定义)之间是否存在任何关联:设计:对具有代表性的青少年群体进行基于定量的横断面研究:我们开展了一项横断面研究,以确定在美国 COVID-19 大流行的高峰期(青少年抑郁症的高发期)接受年度体检的青少年中,重度抑郁症(MDD)与亚临床甲状腺机能减退之间的关联。所有青少年都通过 PHQ-9 筛查工具进行了抑郁症筛查,并测量了他们的促甲状腺激素:在分析的 304 名受试者中,179 人(58.88%)根据患者健康问卷(PHQ-9)筛查工具(平均 PHQ 1.80 ± 1.49)属于轻度抑郁或无抑郁。70人(23.03%)患有轻度抑郁症(平均PHQ为6.59 ± 1.46),50人(16.45%)患有中度抑郁症(平均PHQ为13.70 ± 2.75),5人(1.64%)患有重度抑郁症(平均PHQ为21.40 ± 1.67)。四组患者的 TSH 平均值分别为 1.93 ± 0.99、1.77 ± 1.05、2.10 ± 0.98 和 1.57 ± 0.32 mIU/L。所有数值均在 0.50 至 4.30 mIU/L 的推荐范围内,组间差异无统计学意义:我们得出的结论是,在接受体检的青少年群体中,抑郁症与亚临床甲减之间没有统计学意义上的显著关联,如果通过PHQ-9工具筛查出抑郁症,则不需要进行亚临床甲减的TSH筛查。
{"title":"Lack of Association Between Depression and Subclinical Hypothyroidism in Adolescents Presenting for Routine Physical Examinations.","authors":"Mohan Kumaratne, Franck Vigneron, Jasmine Cisneros, Vinodh Rajapakse","doi":"10.1177/11795565231220503","DOIUrl":"10.1177/11795565231220503","url":null,"abstract":"<p><strong>Background: </strong>There are conflicting results in the existing studies regarding the association between depression and subclinical hypothyroidism in adolescents. Subclinical hypothyroidism is defined as elevated thyroid stimulating hormone (TSH) levels above the reference range without signs or symptoms of hypothyroidism.</p><p><strong>Objectives: </strong>The focus of this study is to determine whether there is any association between depression and subclinical hypothyroidism, (as defined by the serum TSH levels) in a population of healthy adolescents.</p><p><strong>Design: </strong>Quantitative-based cross-sectional study of a representative subset of the adolescent population.</p><p><strong>Methods: </strong>We carried out a cross-sectional study to determine the association between major depressive disorder (MDD) and subclinical hypothyroidism, in adolescents presenting for annual physical examinations during the peak period of the COVID-19 pandemic in the USA, a period deemed high for adolescent depression. All the adolescents were screened for depression by the PHQ-9 screening tool and had their TSH measured.</p><p><strong>Results: </strong>Of the 304 subjects analyzed, 179 (58.88%) were minimally or not depressed according to the Patient Health Questionnaire (PHQ-9) screening tool (mean PHQ 1.80 ± 1.49). 70 (23.03%) had mild depression (mean PHQ 6.59 ± 1.46), 50 (16.45%) had moderate depression (mean PHQ 13.70 ± 2.75), and 5 (1.64%) had severe depression (mean PHQ 21.40 ± 1.67). Mean TSH values were 1.93 ± 0.99, 1.77 ± 1.05, 2.10 ± 0.98, and 1.57 ± 0.32 mIU/L, respectively in the four groups. All values were within the recommended range of 0.50 to 4.30 mIU/L, without statistically significant inter-group differences.</p><p><strong>Conclusion: </strong>We conclude that there is no statistically significant association between depression and subclinical hypothyroidism, in a population of adolescents presenting for physical examinations, and if the screening for depression by the PHQ-9 tool indicates depression, a screening TSH test for subclinical hypothyroidism is not justified.</p>","PeriodicalId":45027,"journal":{"name":"Clinical Medicine Insights-Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.5,"publicationDate":"2024-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10822073/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Factors Contributing to Malnutrition among Children Under 5 Years at St. Elizabeth Catholic Hospital, Ahafo Hwidiem. 导致阿哈福-惠迪姆圣伊丽莎白天主教医院 5 岁以下儿童营养不良的因素。
IF 1.5 Pub Date : 2024-01-18 eCollection Date: 2024-01-01 DOI: 10.1177/11795565231222716
William Wilberforce Amoah, Dora Kobi, Philip Teg-Nefaah Tabong, Margaret Wekem Kukeba, Yakubu Alhassan, Francisca Achaliwie, Augustina Amoah, Atinyagrika Bernard Adugbire

Background: Nutrition among children under 5 plays an important role in the overall development of children physically and psychologically. Nutritional deficiencies and malnutrition generally affect children. In this study, we estimate the prevalence of 3 malnutrition indicators underweight, stunting and wasting and to assess factors associated with them.

Objective: The main objective of the study was to assess the factors contributing to malnutrition among children under 5 years old.

Design: The study employed a descriptive cross-sectional study design to assess the factors contributing to malnutrition among children under 5 years of age.

Methods: This is quantitative cross-sectional facility-based study of 245 children aged 11 to 49 months. A structured questionnaire was used, and anthropometric measurements were taken to collect data. The Pearson chi-square test was used to assess the bivariate association between the outcomes and the characteristics. The binary logistic regression model was employed to estimate the crude and adjusted odds of malnutrition indicators among the characteristics observed in the study.

Results: The prevalence of underweight, stunting, and wasting were 35.9, 13.9, and 33.9%, respectively. Underweight was significantly higher among females compared to males (42.0% vs. 24.1%) and highest among children aged 11 to 23 months (53.6%). Female children had 3 times more odds of being underweight (AOR: 3.09, 95% CI: 1.56-6.12). Compared to children aged 11 to 23 months, the odds of being underweight were less among children aged 24 to 35 months (AOR: 0.26, 95% CI: 0.13-0.51, P < .001), and 36 to 47 months (AOR: 0.9, 95% CI: 0.03-0.29, P < .001). Wasting was less prevalent among children aged 11 to 23 months (4.8%). Also, wasting was high among children aged 24 to 35 months (AOR: 27.41, 95% CI: 9.12-82.37, P < .001), 36 to 47 months (AOR: 28.23, 95% CI: 7.59-104.94, P < .001), and 48 to 59 months (AOR: 18.10, 95% CI: 3.04-107.76, P < .001). None of the observed factors were associated with stunting in the study.

Conclusion: This study concludes that child malnutrition was high among under-five children. Promoting the use of healthy complementary feeding, preventing diarrheal diseases, and vaccinating children integrated with access to nutrition education programs are vital interventions to improve the nutritional status of children.

背景:5 岁以下儿童的营养对其身心全面发展起着重要作用。营养缺乏和营养不良普遍影响着儿童。在这项研究中,我们估计了体重不足、发育迟缓和消瘦这三个营养不良指标的发生率,并评估了与之相关的因素:研究的主要目的是评估导致 5 岁以下儿童营养不良的因素:本研究采用描述性横断面研究设计,以评估导致 5 岁以下儿童营养不良的因素:这是一项基于设施的定量横断面研究,研究对象为 245 名 11 至 49 个月大的儿童。采用结构化问卷调查和人体测量来收集数据。采用皮尔逊卡方检验来评估结果与特征之间的二元关联。采用二元逻辑回归模型估算了研究中观察到的特征中营养不良指标的粗略和调整几率:结果:体重不足、发育迟缓和消瘦的发生率分别为 35.9%、13.9% 和 33.9%。女性体重不足率明显高于男性(42.0% 对 24.1%),11 至 23 个月大的儿童体重不足率最高(53.6%)。女性儿童体重不足的几率是男性的 3 倍(AOR:3.09,95% CI:1.56-6.12)。与 11 至 23 个月的儿童相比,24 至 35 个月的儿童体重不足的几率较低(AOR:0.26,95% CI:0.13-0.51,P P P P P P 结论:本研究得出结论,五岁以下儿童的营养不良率较高。推广使用健康的辅食、预防腹泻疾病、为儿童接种疫苗并提供营养教育计划是改善儿童营养状况的重要干预措施。
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引用次数: 0
Whole Exome Sequencing Achieved a Definite Diagnosis of Kaufman Oculocerebrofacial Syndrome in a Bahraini Family: A Case Report. 全外显子组测序实现了一个巴林家族Kaufman眼脑面综合征的明确诊断:一例报告。
IF 1.5 Pub Date : 2023-09-21 eCollection Date: 2023-01-01 DOI: 10.1177/11795565231200130
Mariam Fida, Israa Sinan, Alan Finan

A 1 year and 7 months old girl presented to the medical genetic clinic as a referral from the pediatrics clinic. Upon examining the patient and assessing past medical history, an autosomal recessive disorder was suspected. The family underwent whole exome sequencing, which resulted in the diagnosis of Kaufman oculocerebrofacial syndrome (OMIM #244450) in the patient due to the fact that both parents were heterozygous carriers of a novel pathogenic variant in the gene UBE3B that lies on 12q24. It has been recommended for the family that preimplantation genetic testing should be considered for future pregnancies. In this case report, we present a novel variant of the gene and highlight the support of whole exome sequencing in the unveiling of genetic disorders.

A 1 第7年 一个月大的女孩从儿科诊所转诊到医学遗传诊所。在检查患者并评估其既往病史后,怀疑其为常染色体隐性遗传疾病。该家族接受了全外显子组测序,这导致该患者被诊断为考夫曼眼脑面综合征(OMIM#2244450),因为父母都是位于12q24的基因UBE3B中一种新的致病性变体的杂合携带者。有人建议该家族在未来怀孕时应考虑植入前基因检测。在这个病例报告中,我们提出了一种新的基因变体,并强调了全外显子组测序在揭示遗传疾病中的支持。
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引用次数: 0
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Clinical Medicine Insights-Pediatrics
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