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.

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.

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.

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.

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.

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.

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

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.

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.

Comprehensive Application of Multiple Genetic Markers in a Case of Half‑Siblings with the Same Father and Different Mothers and an Avuncular Relationship

Half-sibling(HS)kinship testing is more difficult and complicated.This article describes a case where we sought to establish if three children with different mothers(one boy and two girls),shared a common father.The three children and their mother,as well as the suspected father’s elder brother took part in the identification.To investigate the application of multiple genetic markers in HS kinship testing,autosomal STR,Y-STR,and X-STR was performed on blood samples from the individuals of interest C1(female),M1(mother of C1),C2(male),M2(mother of C2),C3(female),M3(mother of C3),and UC(elder brother of the suspected biological father).The 24 Y-STR haplotypes of C2 and UC were identical,confirming that they come from the same paternal line.Among the 27 X-STRs tested in C1 and C3,18 of them had different paternal alleles,so C1 and C3 were excluded as half-sibling kinship.39 autosomal STR were calculated by ITO method,the HSI(or AI)of the pairs C1-C3,C2-C3,and C3-UC are<1,so HS kinship between C1 and C3,and between C2 and C3 can be excluded and avuncular kinship between C3 and UC can be excluded.The HSI(or AI)of the pairs C1-C2,C1-UC,and C2-UC are much>1,which may supports HS kinship between C1 and C2 and avuncular kinship between C1 and UC,and between C2 and UC.15 autosomal STR were calculated by discriminant function,DHS3>DR3 between C1 and C2,and thus they could be HS.DHS3<DR3 between C1 and C3,and between C2 and C3,so C1 and C3,and C2 and C3 may be unrelated individuals.Based on the above results,we can conclude that a HS relationship may be existed between C1 and C2.There may be a avuncular relationships between C1 and UC and between C2 and UC.HS relationships between C3 and C1 and between C3 and C2 as well as an avuncular relationship between C3 and UC were not supported by this study.The application of multiple genetic marker testing should be more regularly applied in the evaluation of HS and avuncular relationships.Increasing the number of related individuals tested when evaluating kinship relationships provides more data for better identification.

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。

Social correlates of sedentary behavior in young people:The UP&DOWN study

Purpose:The aim of the present study was to analyze the associations of youths' sedentary behavior(SB) with parents' and siblings' SB and physical activity(PA),as well as the associations of youths' coparticipation with parents,siblings,and friends in PA and SB with youths' SB.Methods:The sample consisted of 1543 youths(12.02±2.51 years;788 boys) enrolled in the baseline cohort of the UP&DOWN study.SB was assessed by accelerometry and questionnaire.Participants reported the time spent by their parents and siblings watching television,playing videogames,surfing the Internet,sitting/resting,and doing PA.Further,participants reported coparticipation with parents,siblings,and friends in these activities.Linear mixed models,including school and city as random effects,were performed.Results:Parents' television time was positively associated with youths' screen-based SB.Coparticipation with friends in playing videogames(in boys) and in surfing the Internet(in girls) showed a positive association with screen-based SB and a negative association with educational-based SB.Moreover,coparticipation with siblings and friends in PA was inversely associated with accelerometer-based SB in boys and girls.Conclusion:Our results emphasize the important role of social modeling in the development of sedentary lifestyles in youths.Interventions aimed at reducing health risk behaviors in youths could be more effective if they are oriented from a social perspective that involves their families and networks of their closest friends.

Clinical characteristics of sibling patients with comitant strabismus

AIM：To investigate the clinical characteristics of sibling patients with comitant strabismus. METHODS：Sibling patients who were diagnosed with comitant strabismus from January 2005 to December 2014 were retrospectively reviewed. Factors including age, sex, types of strabismus, refractive errors, angle of deviation, and coexistence of other strabismus were analyzed. RESULTS：A total of 62 patients（31 pairs of siblings） were included. Of these, 26 pairs had intermittent exotropia, 3 had accommodative esotropia, and 2 had infantile esotropia. There were no pairs with different subtypes of strabismus. The age at first visit was 3.7±2.6y and the mean follow-up period was 30.5±24.1mo. In siblings with intermittent exotropia, there was no difference in age of onset, age at operation, or refractive errors between the first and second-born children. The 20（77%） pairs of siblings with exotropia showed more than 80% concordance of maximum angle of deviation during follow-up. In the 9 pairs in which both siblings had an operation, the final angle of deviation after the operation was 8.2±8.1 prism diopters（PD） in first-born children and 8.6±6.5 PD in second-born children. CONCLUSION：The subtypes of strabismus are the same in all pairs of siblings and clinical characteristics of strabismus are similar between the first and secondborn children. This similarity could be an indicator for the diagnosis of second-born children. Further prospective study including a larger number of sibling patients is needed.

Differentiation of true anophthalmia from clinical anophthalmia using neuroradiological imaging

Anophthalmia is a condition of the absence of an eye and the presence of a small eye within the orbit.It is associated with many known syndromes.Clinical findings,as well as imaging modalities and genetic analysis,are important in making the diagnosis.Imaging modalities are crucial scanning methods.Cryptophthalmos,cyclopia,synophthalmia and congenital cystic eye should be considered in differential diagnoses.We report two clinical anophthalmic siblings,emphasizing the importance of neuroradiological and orbital imaging findings in distinguishing true congenital anophthalmia from clinical anophthalmia.

虚拟专用Intranet安全研究

介绍了一种实现虚拟专用Ｉｎｔｈｅｎｅｔ的安全策略──基于身份的可靠加载（ＳＩＢＬ），另外阐述了如何保证ＳＴＢＬ网络的完整性的措施和策略。

骨形态发生蛋白与细胞外基质磷酸化糖蛋白相关性研究进展

骨形态发生蛋白(BMP)是转化生长因子β超家族成员,细胞外基质磷酸化糖蛋白(MEPE)是一种细胞外基质的非胶原磷酸化糖蛋白,两者都是成骨信号通路中的重要蛋白。近年来发现MEPE表达水平受BMP的调节,并在磷酸盐代谢调节、成骨细胞增殖分化中发挥重要作用,同时与肿瘤细胞的骨转移有着密切的关联。在此,我们简要综述近年来BMP与MEPE的关系以及它们在肿瘤细胞骨转移方面的作用。

Pediatric palliative care- The role of the patient's family

Whenever a child suffers, what does she or he cry? Mother! What does that mean? Palliative care is not a type of medicine based on objective evidence or statistics. The only relevant standard is the very individual quality of life. Nobody knows better what this actually means but the patient himself. Thus, if the mother's presence has the biggest impact on a child's wellbeing or comfort, she herself is the most valuable treatment modality. In nearly every publication dealing with pediatric palliative care, it is stated that palliative care does not only imply care for the sick child but also for the parents and the whole family. Usually, it is pointed out that they are suffering a lot as well. But helping them does also mean: helping the child! Of course, it means higher efforts, obligations and costs for the healthcare system. Thus the justification of this effort may be put in question; in particular, it may be argued that disorders of family members should, if necessary, be treated as such. But this is only one side of the coin! In the following, we will, based on published literature, look at the role of mothers, fathers, and siblings for the wellbeing of an ill or even dying child. As a conclusion, we will learn that if it is our task to give a dying child the best available care, helping mothers, fathers and sibling is an inevitable part of it.

“I screamed for help”: A single case study of one sister’s experiences with formal psychiatric care when her brother became mentally ill

Studies have shown that the quality of the relationship between siblings has great significance for the mentally ill sibling’s overall quality of life. Sibling relationships may be particularly important because few adults with severe mental illness have children. As parents grow older, adult children are expected to support their sibling with mental illness when their parents are no longer able to do so. The sibling relationship has the potential to be one of the most significant relationships for adults with schizophrenia. The aim of this paper is to present a case study of a sister’s experiences and needs in her contact with psychiatric care. This single case study was designed and the informant was recruited because of her value in maximizing what we can learn about being a sibling to a person with mental illness. Data were collected through four indepth, semistructured, repeated interviews during a two-year period, and were interpreted and analyzed through content analysis. Three major topics were discussed: 1) Anna’s brother’s time with formal psychiatric care;2) Anna’s feelings and emotions;and 3) Anna’s view of her contact with psychiatric care. The findings indicated a sibling’s need for attention, support, and understanding from the formal caregivers. Participation in our study was one of the first opportunities she had to talk about her relationship with formal psychiatric care. An open dialogue may help siblings to manage their situations.