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.

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。

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.

Fertilization of IVF/ICSI Using Sibling Oocytes from Couples with Subfertile Male or Unexplained Infertility

The significance of the performance of conventional in vitro fertilization and intracytoplasmic sperm injection (IVF/ICSI) using sibling oocytes from couples with subfertile male or unexplained infertility was evaluated. A total of 410 sibling oocyte cumulus-corona complexes (OCCC) from 21 couples with subfertile male (group A) and 11 unexplained infertile couples (group B) were randomly divided, in order of retrieval, into two groups inseminated either by conventional IVF or by ICSI. The treatment outcomes and the influence of infertility factors on fertilization in each group were compared. The results showed that although the two pronuclear (2PN) fertilization rate per injected sibling oocytes was significantly higher after ICSI (group A: 68.2 %±28.8 %; group B: 66.2 %±24.9 %) than after conventional IVF (group A: 41.8 %±32.7 %; group B: 40.1 %±22.1 %), the other variables studied included: the fertilization rates of per allocated sibling oocytes IVF/ICSI, the fertilization rates of sibling oocytes IVF/ICSI after excluding failed IVF fertilization cycles, as well as the cleavage rates of normal fertilization were not statistically significant (P>0.05). Similarly, though the total fertilization failure rate in the IVF group (group A: 42.9 %; group B: 36.4 %) was significantly higher than in the ICSI group (group A: 4.8 %; group B: 0), we did not cancel cycles due to the normal fertilization of sibling oocytes. Embryo transfer was possible in all 32 couples. There were 10 clinical pregnancies in the two groups. We also discovered a possible association between some semen parameters and sperm functions of group A, and women age and duration of infertility of group B and fertilization. It is suggested that adoption of the split IVF/ICSI technology in the above cases may help eliminate fertilization failures. This is also a useful method to investigate the effect of single factor on the employment of assisted reproductive technology.

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.

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.

Malaria Outbreaks in Villages in North Karnataka, India, and Role of Sibling Species of <i>Anopheles culicifacies</i>Complex

Investigations on malaria outbreaks and role of sibling species complex of principal rural malaria vector Anopheles culicifacies were carried out in villages in north Karnataka, India from 1997 through 2014. Information regarding densities, resting and breeding habitats of malaria vectors prevalent in the area was also generated so as to formulate an appropriate vector control strategy. The Slide Positivity Rate (SPR), Slide Falciparum Rate (SFR) and Pf proportion was 43.1%, 35.9% and 83.3%, respectively. Three sibling species A, B, and C of An. culicifacies were found sympatric with cumulative percent composition of 63.7, 28.2 and 8.1, respectively. Per man hour and per structure densities of An. culicifacies, An. culicifacies and An. culicifacies varied from 0 to 27.5 and 0 to 56.0, 0 to 0.5 and 0 to 7.0 and, 0 to 2.5 and 0 to 7.5, respectively. The proportion of semi-gravid and gravid females was more as compared to fully fed and unfed females which indicated that most of the females rested indoor. Streams/river, wells, seepages and irrigation tanks are the major habitats supporting breeding of An. culicifacies. Integrated vector managements by indoor residual spraying of effective insecticide as per national guidelines along with biological control methods especially use of larvivorous fish Gambusia affinis and Poecilia reticulate are suggested to control malaria in the area.

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.

RNA-Seq and Bulked Segregant Analysis of Genes Related to High Growth in <i>Ginkgo biloba</i>Half-Sibling Families

The lifetime of G. biloba is very long, and its growth is relatively slow. However, little is known about growth-related genes in this species. We combined mRNA sequencing (RNA-Seq) with bulked segregant analysis (BSA) to fine map significant agronomic trait genes by developing polymorphism molecular markers at the transcriptome level. In this study, transcriptome sequencing of high growth (GD) and low growth (BD) samples of G. biloba half-sib families was performed. After assembling the clean reads, 601 differential expression genes were detected and 513 of them were assigned functional annotations. Single nucleotide polymorphism (SNP) analysis identified SNPs associated with 119 genes in the GD and BD groups;58 of these genes were annotated. Two Homeobox-leucine zipper protein genes were up-regulated in the GD group compared with the BD group;therefore, these are very likely related to high growth of G. biloba. This study provides molecular level data that could be used for seed selection of high growth G. biloba half-sib families for future breeding programs.

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.

Children's Social Emotional and Cognitive Development Association with Parent and Sibling

The purpose of this article is to demonstrate the impact on children's development from parents and siblings differed in many aspects through literature review. From the literature review, it shows that parents and siblings contribute differently to children's emotional, social and cognitive development to some extent. Besides,it seems that having a sibling is more likely to benefit the younger siblings, not the older one.

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

More than two courses of pre-transplant consolidation therapy benefits patients with acute myeloid leukemia in the first complete remission who underwent human leukocyte antigen-matched sibling allografts:a multicenter study

Background:Although the need for consolidation chemotherapy after successful induction therapy is well established in patients with acute myeloid leukemia(AML)in first complete remission(CR1),the value of consolidation chemotherapy before allogeneic hematopoietic stem cell transplantation remains controversial.Methods:We retrospectively compared the effect of the number of pre-transplant consolidation chemotherapies on outcomes of human leukocyte antigen-matched sibling stem cell transplantation(MSDT)for patients with AML in CR1 in multicenters across China.In our study,we analyzed data of 373 AML patients in CR1 from three centers across China.Results:With a median follow-up of 969 days,patients with≥3 courses of consolidation chemotherapy had higher probabilities of leukemia-free survival(LFS)(85.6%vs.67.0%,P<0.001)and overall survival(89.2%vs.78.5%,P=0.007),and better cumulative incidences of relapse(10.5%vs.19.6%,P=0.020)and non-relapse mortality(4.2%vs.14.9%,P=0.001)than those with≤2 courses of consolidation chemotherapy.Pre-transplantation minimal residual disease-negative patients with AML in CR1 who received MSDT with≥3 courses of consolidation chemotherapy had a higher probability of LFS(85.9%vs.67.7%,P=0.003)and a lower cumulative incidence of relapse(9.6%vs.23.3%,P=0.013)than those with≤2 courses.Conclusion:Our results indicate that patients with AML in CR1 who received MSDT might benefit from pre-transplant consolidation chemotherapy.

长子女同胞冲突与攻击性:父母消极协同教养的作用

目的:探讨长子女同胞冲突与攻击性的关系,检验父母消极协同教养的调节作用。方法:采用同胞关系问卷、协同教养问卷及攻击性行为问卷,对132名长子女的父母进行问卷调查。结果:长子女的同胞冲突对攻击性具有正向作用,协同教养冲突在同胞冲突与攻击性的关系中不存在调节作用,协同教养贬低可以调节同胞冲突与攻击性的关系:随着协同教养贬低的增高,长子女同胞冲突对其攻击性的作用增大。结论:隐性情境的消极协同教养在同胞冲突与攻击性的关系中具有调节作用。

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。