Case Report: Four Siblings with Osteopetrosis and Pyloric Stenosis and Three Cousins with Osteopetrosis

Osteopetrosis incidence is less than 1:200,000 births in most populations. It’s more common in consanguineous people as it’s unusual for two members of the same family. The incidence of Hypertrophic pyloric stenosis is 1 in 300 - 900 newborns. Hypertrophic pyloric stenosis is due to hypertrophy of the smooth muscle of the pyloric sphincter. The classic age of occurrence is the first few months of life, and the classic presentation is non-bilious projectile vomiting after feeding. We report a rare association of osteopetrosis and pyloric stenosis in four siblings and osteopetrosis in three cousins. All four patients were operated on and followed by nephrology and metabolic departments for osteopetrosis and metabolic acidosis.

Type 1 diabetes in a Nigerian family-occurrence in three out of four siblings: A case report

BACKGROUND Most occurrences of type 1 diabetes cases in any population are sporadic rather than familial.Hence,type 1 diabetes among siblings is a rare occurrence.Even more rare is for three or more siblings to develop type 1 diabetes.In this report,we describe a case of a Nigerian family in which type 1 diabetes occurred in three siblings among four children with neither parent having diabetes.All three siblings are positive for glutamic acid decarboxylase and anti-islet cell antibodies.CASE SUMMARY There were four siblings(three males and one female)born to a couple without a diagnosis of diabetes.The eldest child(male)was diagnosed with diabetes at the age of 15,the second child(female)was diagnosed at the age of 11 and the fourth child(male)was diagnosed at the age of 9.All the siblings presented with similar osmotic symptoms and were diagnosed of diabetic ketoacidosis.All of them had markedly reduced serum C-peptide levels with high levels of glutamic acid decarboxylase and insulinoma-associated protein-2 antibodies.We could not perform genetic analysis of HLA-DR,DQ and CTLA4 in the siblings as well as the parents;hence haplotypes could not be characterized.Both parents of the probands have no prior history of diabetes,and their blood glucose and glycated hemoglobin levels were within normal ranges.The third child(male)has no history suggestive of diabetes,and his blood glucose and glycated hemoglobin have remained within normal ranges.CONCLUSION Although the occurrence of type 1 diabetes in proband siblings is uncommon,screening for diabetes among siblings especially with islet autoantibodies should be encouraged.

Siblings with coronavirus disease 2019 infection and opposite outcome—the hemodialysis’s better outcome paradox:Two case reports

BACKGROUND Coronavirus disease 2019(COVID-19)is a highly contagious infection caused by the severe acute respiratory syndrome coronavirus 2 virus and has a unique underlying pathogenesis.Hemodialysis(HD)patients experience high risk of contamination with COVID-19 and are considered to have higher mortality rates than the general population by most but not all clinical series.We aim to highlight the peculiarities in the immune state of HD patients,who seem to have both immune-activation and immune-depression affecting their outcome in COVID-19 infection.CASE SUMMARY We report the opposite clinical outcomes(nearly asymptomatic course vs death)of two diabetic elderly patients infected simultaneously by COVID-19,one being on chronic HD and the other with normal renal function.They were both admitted in our hospital with COVID-19 symptoms and received the same treatment by protocol.The non-HD sibling deteriorated rapidly and was intubated and transferred to the Intensive Care Unit,where he died despite all supportive care.The HD sibling,although considered more“high-risk”for adverse outcome,followed a benign course and left the hospital alive and well.CONCLUSION These cases may shed light on aspects of the immune responses to COVID-19 between HD and non-HD patients and stimulate further research in pathophysiology and treatment of this dreadful disease.

Quality of life of parents and siblings of children with cochlear implants

Objectives: This study examined the quality of life(QoL) of the parents and siblings of hearing-impaired children with cochlear implants(CIs).Design: This is a cross-sectional, questionnaire-based study. The questionnaire consists of three sub-domains-interaction, emotional well-being and support for the hearing-impaired child and the overall QoL – and two open-ended questions for participants to provide comments and suggestions to enhance their family's QoL. A total of 63 questionnaires were e-mailed or mailed to families who met the inclusion criteria.Setting: The study was conducted under the Center for Rehabilitation & Special Needs, Faculty of Health Sciences, Universiti Kebangsaan Malaysia, Kuala Lumpur.Participants: A total of 79 parents and 23 siblings from 44 families of children with CI participated in this study.Main outcome measures: The mean score for each of the sub-domain and the overall QoL for both subject groups were computed. The answers for the open-ended questions were listed and organized into themes.Results: There were significant correlations between the overall QoL score and each of the test domains for the parents' group(p < 0.01). For the siblings' group, only the interaction and support domains were significant.Interaction was the main sub-domain affecting the parents' QoL but for siblings, this could not be determined. A total of 60% of the pooled comments were classified as ‘concerns'. As for the suggestions, 38.7% requested some form of support, mainly financial(41.7%).Conclusions: Families with hearing impaired children with CI have numerous concerns that need to be addressed, even though, on average, they were satisfied with their overall QoL.

Pentazocine Abuse in Two Siblings with Sickle Cell Anaemia

Vaso-occlusive crisis is a common clinical manifestation in children with sickle cell anaemia, frequently warranting in-patient management with intravenous fluids, analgesics and occasionally anti-malaria and antibiotics. Pain is the principal symptom of vaso-occlusive crisis and it can affect any part of the body. Pentazocine is a well-known opioid analgesic, commonly used in the treatment of painful crisis in children affected by sickle cell anaemia. It was discovered in the 1950s and was initially thought to be addiction—proof, but this has been disproved over the years by reports of pentazocine dependence/addiction especially in patients living with chronic pain. There have been some case reports of pentazocine abuse/dependence among sickle cell disease patients in the literature, most of which are from Nigeria but none involved joint addiction by siblings. We therefore, report the case of two siblings, known sickle cell anaemia (HbSS) patients, referred to our emergency paediatric unit with history of recurrent painful crisis over a 10-month period leading to abuse of pentazocine. They were jointly managed successfully by the paediatric hematology and the pain and palliative units of the University of Ilorin Teaching Hospital and helped to overcome their abuse and addiction.

Heredo-Familial Expression of Ametropia among Siblings of a Nigerian Family

A case series of 4 siblings who had auto-refraction and subjective refraction, refinement was with 0.25 Jackson Cross Cylinder. Presenting complaint was either blurring of distant vision or missing eye glasses. The eldest sibling started using eye glasses at 15 years of age while the other siblings commenced much earlier. Presenting visual acuities in 7 eyes ranged from 6/9 to 6/18, one eye of the eldest sibling had visual acuity of 6/36. Spherical errors had gender bias with the males more likely to be hypermetropic and the females more likely to be myopic. However, cylinder powers and axes were closely related in all siblings. It was concluded that heredo-familial traits could partly account for some of the striking similarities noted in the outcomes of refraction among the siblings.

Avian sibling cannibalism: Hoopoe mothers regularly use their last hatched nestlings to feed older siblings

Sibling cannibalism is relatively common in nature,but its evolution in birds and certain other vertebrates with extended parental care had been discarded.Here,however,we demonstrate its regular occurrence in two European populations of the Eurasian hoopoe(Upupa epops)and explore possible adaptive and non-adaptive explanations.Results showed that sibling cannibalism was more frequently detected in Spain(51.7%)than in Austria(5.9%).In these two populations,the hoopoes laid similar clutch sizes,resulting in similar fledging production,but hatching failures were more frequent in the northern population.Consequently,having more nestlings condemned to die in the southern population may explain the higher incidence of sibling cannibalism.In accordance with this interpretation,hatching span and failure,but not breeding date,explained the probability of sibling cannibalism in the Spanish hoopoes,while all three variables predicted brood reduction intensity.Furthermore,experimental food supply reduced the probability of sibling cannibalism,but not the intensity of brood reduction.Finally,females allocated fewer resources to the smallest nestlings when they were going to starve,but not necessarily when they were going to be used as food for their siblings.These results suggest that hoopoes produce extra eggs that,in the case of reduced hatching failure and food scarcity,produce nestlings that are used to feed older siblings.These findings provide the first evidence that sibling cannibalism occurs regularly in a bird species,thus expanding our evolutionary understanding of clutch size,hatching asynchrony,parent-offspring conflict,infanticide,and sibling cannibalism in the animal kingdom.

Frequency of celiac disease and distribution of HLA-DQ2/DQ8 haplotypes among siblings of children with celiac disease

BACKGROUND Celiac disease(CD)is a multifactorial disease,but genetic factors play a major role in its etiology.It has been known that human leucocyte antigen(HLA)-DQ2/DQ8 haplotypes are one of the most important predisposing genetic factors.The risk of developing CD in first-degree relatives and especially siblings of celiac patients is quite high because of having the same HLA haplotypes.AIM To evaluate the frequency of CD and the distribution of the HLA-DQ2/DQ8 haplotypes in siblings of celiac patients.METHODS Patients with biopsy-proven CD and their siblings were included in the study;those who did not have HLA genotyping were excluded from the study.All siblings were on a gluten-containing diet.The HLA genotyping,tissue transglutaminase antibody IgA antibody test,and total IgA test were performed in all participants.RESULTS A total of 57 celiac patients and their 112 siblings were included in the study.The mean age of celiac patients and siblings were 10.30±3.87 years and 9.90±6.11 years,respectively.HLA-DQ2/DQ8 alleles were detected in 98.2%of patients with CD and 90.2%of siblings of celiac patients.HLA-DQ genotypes were present in all siblings diagnosed with CD.Tissue transglutaminase antibody IgA test was found to be positive in 16 siblings.CD was diagnosed in 12 siblings(10.7%)by intestinal biopsy.CONCLUSION The prevalence of CD was found to be 10.7%in siblings of celiac patients in our study.One-third of the siblings diagnosed with CD were asymptomatic.We detected HLA-DQ alleles in 98.2%of celiac patients and 100%in siblings diagnosed with CD.In addition,1 of the 2 siblings was diagnosed with CD 1 year later and the other 4 years later.Therefore,we suggest that siblings of celiac patients should be followed up with clinical findings as well as HLA analysis and serological examination.Since the risk of developing CD is much higher in asymptomatic siblings,we recommend that siblings should be screened for CD even if they are asymptomatic.

Use of Complementary and Alternative Medicine in Siblings of Pediatric Cancer Patients in Germany.A Population-Based Survey

Use of complementary and alternative medicine (CAM) in children with cancer is common and probably increasing. However data concerning use of CAM in siblings of children with an oncologic disease are missing so far. We conducted a population-based survey over a one-year period with 233 participants. Of the 209 respondents (90% response rate) 20% reported CAM use from the time on when the sibling was diagnosed to have cancer, compared to a prevalence rate of 48% before cancer diagnosis. The most prevalent therapies were homeopathy, anthroposophic medicine and Bach flowers. The main reasons for use were to strengthen the immune system and to achieve physical stabilization. Socio-demographic factors associated with CAM use were higher parental education and higher family income. A majority of CAM users would recommend them. 66% of the users informed a physician about CAM use. No side effects were reported.Conclusions: There is a significant decrease in CAM use in siblings of pediatric cancer patients after ascertainment of cancer in the affected sibling. Being out of the focus seems to be the main reason for non-use. Nevertheless the 20% CAM users rate CAM as very effective and would recommend CAM use to other parents.

With or Without Siblings: Who’s Happier?

Oh, Brother For seven years I was king of the house. Then my younger brother was born. our TV remote, clothing, the bigger bed and who gets the better seat on the couch are just a few things we fought over. and though we’re now both in our 20s, our boyish battles still continue. But through the taunts, bickering

父母婚姻冲突与青少年抑郁:同胞关系和心理韧性的作用

为明确父母婚姻冲突与青少年抑郁的关系及其机制,构建了一个有调节的中介模型,重点考察了青少年同胞关系的中介作用以及心理韧性的调节作用。采用问卷法,对1398名青少年感知的父母婚姻冲突、同胞关系、心理韧性与抑郁情绪进行调查。结果显示:在控制性别、年龄后,父母婚姻冲突能显著正向预测青少年的抑郁;同胞关系在父母婚姻冲突与青少年抑郁之间发挥着中介作用;心理韧性调节了父母婚姻冲突通过同胞关系影响青少年抑郁中介过程的后半段路径。研究结果揭示了父母婚姻冲突影响青少年抑郁的内在机制,对于提升青少年同胞关系质量、干预和预防抑郁具有一定的参考价值。

同胞数量和结构对农村家庭彩礼支出的影响

本文使用2018年中国健康与养老追踪调查数据分析了同胞数量和结构对农村家庭彩礼支出的影响。研究发现,第一,兄弟姐妹数量对彩礼数额有显著的负面影响。计划生育政策执行以来,我国农村家庭生育数量下降对彩礼价格上涨起到了重要的推动作用。第二,农村男女有别和长幼有序的客观现实导致兄弟对彩礼的挤出效应比姐妹大,且年长兄弟姐妹对彩礼的负面影响大于年幼兄弟姐妹。第三,2000年以前,农村确实存在用女儿出嫁所得彩礼补贴儿子的现象,但这主要存在于经济状况较差的家庭;2000年以后,姐妹对彩礼数额的影响已由正转负,且即便在经济状况较差的农村家庭,姐妹也无法为男性获得高额彩礼带来任何帮助。这一发现表明,农村家庭的彩礼性质已从婚姻偿付转变为婚姻资助,新婚小家庭是彩礼的最大受益者。

3~6岁儿童同胞关系的异质性及其影响因素:基于潜在剖面分析

运用潜在剖面分析探索3~6岁儿童同胞关系的不同特征模式,并且进一步探讨个体心理理论与亲子关系对儿童早期同胞关系类型的影响。采用同胞行为量表、社会理解量表、亲子关系量表对1410名二孩家庭的3~6岁儿童进行调查,结果发现:(1)儿童同胞关系可以分为磨合成长型(48.94%)、相对和谐型(47.09%)和矛盾冲突型(3.97%)三种类型;(2)儿童个体心理理论以及亲子关系亲密性越高,亲子关系冲突性越低,其同胞关系类型更倾向归属于相对和谐型。

从SIBL探索中国专业图书馆发展之路向

本文试图通过对纽约公共图书馆的科学和工商业图书馆(简称SIBL)与温州图书馆的中国鞋都图书馆之比较研究,来探索中国专业图书馆发展之路向。

青少年人格冲动性与攻击性的关系:同胞关系的作用路径

背景我国正从独生子女家庭进入多子女家庭,探索同胞关系在青少年人格冲动性与攻击性之间的作用机制,对促进青少年心理健康以及维护社会和谐稳定有着重要意义。目的探讨同胞关系在青少年人格冲动性与攻击性之间的作用路径,为青少年暴力攻击行为的预防提供参考。方法于2023年2月—4月,采用随机抽样方法选取四川省某县12所中小学共986名有同胞关系的学生作为研究对象。采用Barratt冲动性量表(BIS-11)、Buss和Perry攻击问卷中文版(AQ-CV)以及同胞关系问卷(SRQ)进行横断面调查。采用Pearson相关分析考查各量表评分的相关性。使用Bootstrap法检验同胞关系在人格冲动性与攻击性之间的作用路径。结果BIS-11总评分与AQ-CV总评分、SRQ中的冲突维度评分、争宠维度评分均呈正相关(r=0.485、0.276、0.280,P均<0.01),与SRQ温暖/亲密维度评分呈负相关(r=-0.383,P<0.01);AQ-CV总评分与SRQ冲突维度评分、争宠维度评分均呈正相关(r=0.387、0.340,P均<0.01),与温暖/亲密维度评分呈负相关(r=-0.304,P<0.01);SRQ温暖/亲密维度评分与冲突维度评分、争宠维度评分均呈负相关(r=-0.307、-0.375,P均<0.01);SRQ冲突维度评分与争宠维度评分呈正相关(r=0.267,P<0.01);青少年人格冲动性水平对攻击性水平的总效应为0.480(P<0.01);同胞关系在青少年人格冲动性与攻击性之间起中介作用,其中温暖/亲密维度的间接效应值为0.054,冲突维度的间接效应值为0.075,争宠维度的间接效应值为0.062,效应量分别为11.21%、15.70%、12.93%。结论青少年的人格冲动性可以直接影响攻击性,同胞关系可能是将人格冲动性和攻击性联系起来的重要渠道。

复刻与迭代:第一代大学生同胞教育辐射现象探究

第一代大学生身处家庭、学校、社会等多重环境中,但既有研究鲜少对个体间长期的深层作用机制进行深入研究,也并未对“多子女家庭”给予充分关注,难以回应新时代的生育政策。本研究以16个来自“985”或“211”高校的第一代大学生家庭为研究对象,采用质的研究方法从个人时间纵向视角考察同胞教育辐射呈现出的显性支持与隐性规程两种作用路径。研究发现,兄姐通过情感与物质扶持、关键信息传递等显性支持向弟妹提供了一种弥补性资源;兄姐所示范的参照轨迹与目标边界成为一种隐性规程,分别提升了弟妹对“如何考上好大学”的结果期待及“我能考上好大学”的功效期待。在应试惯习的培养与养育经验的迭代之外,不同家庭养育造就了共生或竞逐的同胞关系,导致同胞教育辐射现象分化。本土研究突破了传统的资源稀释假设。

同胞关系的促进及干预模型的构建

随着全面二孩和三胎政策的实施,二孩或多孩将成为主流家庭组织形式。近年来,同胞关系问题伴随的家庭与社会冲突屡见不鲜。因此,想要促进同胞关系,提升家庭幸福感及构建和谐社会,有必要对同胞关系进行干预。基于社会生态模型,本文提出以个体、关系、社区和社会层级为出发点的干预路径,构建具有全方位、宽领域和多层级特征的干预模型。未来研究还需关注同胞冲突的建设性作用、层级间联动的综合性影响及同胞研究的本土化发展。

基于特征交互的层次分类在线流特征选择

在开放动态环境下的分类学习任务中,数据特征空间具有动态性,标记空间存在层次化结构.现有的层次分类在线流特征选择算法可以选择较优的特征子集,但这些算法忽略了特征之间存在的交互作用.基于此,提出了一种基于特征交互的层次分类在线流特征选择算法.首先,设计了一种基于层次邻域依赖度去判断特征交互的计算方法;其次,针对层次化结构数据,根据层次结构中不同节点间的兄弟关系定义邻域粗糙集模型;最后,设计了具有在线重要性分析、在线冗余性分析以及在线交互性分析的层次分类在线流框架,用于选择强相关和存在交互作用的特征子集.在6个层次数据集上的实验验证了所提算法具有较优的综合性能.

Relationship between Authoritative Parenting Style and Preschool Children’s Emotion Regulation:A Moderated Mediation Model

An authoritative parenting style has been shown to promote children’s emotion regulation in European-American family studies.However,little is known about how sleep problems and the child’s sibling status in Chinese families affect this relationship.Based on family system theory,this study attempts to better understand the relationship between authoritative parenting style and emotion regulation.Mothers of preschool children in Chinese kindergartens completed questionnaires about their children’s sleep habits,their authoritative parenting styles,and children’s emotion regulation.A total of 531 children participated in this study.Results showed that authoritative parenting was positively associated with emotional regulation.Sleep problems mediated the effects of authoritative parenting style on emotion regulation.The child’s sibling status moderated the mediating effects of sleep problems in authoritative parenting and emotion regulation relationships.Specifically,the relationship between the authoritative parenting style and sleep problems was significant for only children,while birth order had no significant influence on the authoritative parenting style and sleep problems in two-child families.These findings suggest that a lowauthoritative parenting style predicts low emotion regulation through sleep problems,and this depends on the child’s sibling status,indicating that children without siblings may impair emotion regulation due to increased sleep problems.