BACKGROUND: While the literature has highlighted the immense challenges in caring for family members, it is still unclear what the needs of family carers of persons with intellectual disability and challenging behaviours are and what has worked for them. This study aims to examine 60 parents\' and siblings\' experiences in managing the challenging behaviours of their adult family member with intellectual disability whilst living at home.
METHODS: A qualitative grounded theory approach using semi-structured interviews will be adopted. Purposive sampling will be used to recruit family carers who live with adult persons with intellectual disability and use one community service in Hong Kong. Three special schools for persons with intellectual disability from northern China will be approached.
RESULTS: This study will aim to provide an in-depth understanding of the experiences of family carers and compare the different circumstances they face when managing the challenging behaviours of their adult relatives with intellectual disability in their family home.
CONCLUSIONS: Although this study targets adults with intellectual disability, the findings will provide a point of reference for adolescents and younger persons who exhibit demanding and challenging behaviours and live with their families. Recommendations can guide the development of appropriate strategies to strengthen services for family carers.

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Basiliximab is an important treatment for steroid-refractory acute graft-versus-host disease (SR-aGVHD). We performed this retrospective study to evaluate the efficacy and safety of basiliximab treatment in SR-aGVHD patients following matched sibling donor hematopoietic stem cell transplantation (MSD-HSCT) (n = 63). Overall response rate (ORR) was 63.5% and 54% at any time and at day 28 after basiliximab treatment. Grade III-IV aGVHD before basiliximab treatment predicted a poor ORR after basiliximab treatment. The rates of virus, bacteria, and fungi infections were 54%, 23.8%, and 3.1%, respectively. With a median follow-up of 730 (range, 67-3,042) days, the 1-year probability of overall survival and disease-free survival after basiliximab treatment were 58.6% (95% confidence interval [CI] = 47.6%-72.2%) and 55.4% (95% CI = 44.3%-69.2%), respectively. The 3-year cumulative incidence of relapse and non-relapse mortality after basiliximab treatment were 18.9% (95% CI = 8.3%-29.5%) and 33.8% (95% CI = 21.8%-45.7%), respectively. Comorbidities burden before allo-HSCT, severity of aGVHD and liver aGVHD before basiliximab treatment showed negative influences on survival. Thus, basiliximab was safe and effective treatment for SR-aGVHD following MSD-HSCT.

In typical times, adolescents\' relationships with family members influence changing cognitive, social, and physical aspects of their development. The COVID-19 pandemic, however, impacted the full family system in ways that were unprecedented. Scholars of adolescence worldwide were driven to understand how adolescents\' relationships with family members changed due to these dramatic societal shifts and the influence these relationships had on adolescents\' well-being. This systematic review examined two research questions with 189 articles published from 2020-2022: (1) How has the COVID-19 pandemic impacted families with adolescents, including broader family functioning, family relationship qualities, and parenting? and (2) How has the pandemic or pandemic-related stressors interacted with family functioning, family relationships, and parenting of adolescents to impact adolescent well-being and adjustment? Additionally, examination of the relevant studies were divided into sub-themes of pandemic influence: (a) family environment and routines, (b) family difficulties, (c) parenting and parent-adolescent relationships, and (d) sibling relationships.

Allogeneic hematopoietic cell transplantation (allo-HCT) is recommended for core-binding factor mutated (CBF) AML patients achieving second complete remission (CR2). However, approximately 20% of patients may relapse after transplant and donor preference remains unclear. We compared in this EBMT global multicenter registry-based analysis the allo-HCT outcomes using either haploidentical (Haplo), matched siblings donors (MSD), or 10/10 matched unrelated donors (MUD). Data from 865 de novo adult CBF AML patients in CR2 receiving allo-HCT in 227 EBMT centers from 2010 to 2022 were analyzed, in which 329 MSD, 374 MUD, and 162 Haplo-HCTs were included. For the entire cohort, 503 (58%) patients were inv(16)/CBFB-MYH11 and 362 patients (42%) were t(8;21)/RUNX1-RUNX1T1 AML. On multivariate analysis, Haplo-HCT was associated with a lower Relapse Incidence (RI) compared to either MSD (hazard ratio [HR] = 0.56, 95% CI 0.32-0.97; p < .05) or MUD (HR = 0.57, 95% CI: 0.33-0.99, p < .05). No significant difference was observed among the 3 types of donors on LFS, OS and GRFS. CBF-AML with t(8;21) was associated with both higher RI (HR = 1.79, 95% CI 1.3-2.47; p < .01) and higher NRM (HR = 1.58, 95% CI 1.1-2.27; p < .01) than CBF-AML with inv(16), which led to worse LFS, OS and GRFS. To conclude, for CBF-AML patients in CR2, Haplo-HCTs were associated with a lower RI compared to MSD and MUD allo-HCTs. There was no difference on LFS, OS or GRFS. CBF AML patients with inv(16) had a better progonosis than those with t(8;21) after allo-HCT in CR2.

Objective: To evaluate the efficacy of allogeneic hematopoietic stem cell transplantation for the treatment of combined immunodeficiency (CID) and explore prognostic risk factors. Methods: In this retrospective cohort study, clinical characteristics, laboratory tests and prognosis of 73 CID children who underwent allogeneic hematopoietic stem cell transplantation from February 2014 to April 2022 in the Children\'s Hospital of Fudan University were analyzed. Based on the subtypes of diseases, all patients were divided into severe combined immunodeficiency disease (SCID) group and other CID group. Based on the types of donors, all patients were divided into matched sibling donor group, matched unrelated donor group, unrelated cord blood group, and haploidentical donor group. Kaplan-Meier method and Log-Rank test were used to analyze the survival data. Cox regression was used to analyze prognostic factors. Results: Among the 73 patients, there were 61 (84%) males and 12 (16%) females. Fifty-five (75%) patients were SCID, and 18 (25%) patients were other CID. Donor source included 2 (3%) matched sibling donors (MSD), 3 (4%) matched unrelated donors (MUD), 64 (88%) unrelated cord blood (UCB), and 4 (5%) haploidentical donors. The age at transplant was 10.7 (5.9, 27.5) months, and the follow-up time was 36.2 (2.5, 62.9) months. The 3-year overall survival rate of 73 patients with CID was (67±6) %. No significant difference was found in the 3-year overall survival rates between patients with SCID (55 cases) and other CID (18 cases) ((64±7) % vs. (78±10) %, χ2=1.31, P=0.252). And no significant difference was found in the 3-year overall survival rates among patients who received MSD or MUD (5 cases), UCB (64 cases), and haploidentical donor (4 cases) transplant (100% vs. (66±6)% vs. (50±25) %, χ2=2.30, P=0.317). Cox regression analysis showed that the medical history of sepsis (HR=2.55, 95%CI 1.05-6.20, P=0.039) and hypoalbuminemia at transplant (HR=2.96, 95%CI 1.14-7.68, P=0.026) were independent risk factors for the prognosis of allogeneic hematopoietic stem cell transplantation in pediatric patients with CID. Conclusions: Allogeneic hematopoietic stem cell transplantation is an effective treatment for CID. The medical history of sepsis and hypoalbuminemia at transplant were risk factors for prognosis. Enhancing infection prevention and nutritional intervention before transplant can improve patient prognosis.
目的： 评价异基因造血干细胞移植治疗联合免疫缺陷病（CID）的效果并探讨预后相关因素。 方法： 回顾性队列研究。收集2014年2月至2022年4月复旦大学附属儿科医院行异基因造血干细胞移植治疗的73例CID患儿的临床特征、实验室检查及预后。根据疾病亚型分为重症联合免疫缺陷病（SCID）组和其他CID组，根据供者类型分为同胞相合供者组、非亲缘相合供者组、非亲缘脐带血组及单倍体供者组，采用Kaplan-Meier法对患儿进行生存分析并进行Log-Rank检验，Cox回归分析预后危险因素。 结果： 73例患儿中男61例（84%）、女12例（16%）。SCID 55例（75%），其他CID18例（25%）。同胞相合供者、非亲缘相合供者、非亲缘脐带血及单倍体供者分别为2例（3%）、3例（4%）、64例（88%）及4例（5%）。移植年龄10.7（5.9，27.5）月龄，随访时间36.2（2.5，62.9）个月。73例CID患儿的3年总生存率为（67±6）%。SCID组（55例）与其他CID组（18例）患儿3年总生存率差异无统计学意义［（64±7）%比（78±10）%，χ2=1.31，P=0.252］。同胞或非亲缘相合供者移植组（5例）、非亲缘脐带血移植组（64例）及单倍体供者移植组（4例）患儿3年总生存率分别为100%、（66±6）%、（50±25）%，组间比较差异无统计学意义（χ2=2.30，P=0.317）。Cox回归分析显示败血症病史（HR=2.55，95%CI 1.05~6.20，P=0.039）及移植前低白蛋白血症（HR=2.96，95%CI 1.14~7.68，P=0.026）是影响CID患儿移植预后的独立危险因素。 结论： 异基因造血干细胞移植治疗CID有效，移植前有败血症病史及低白蛋白血症是患儿预后危险因素，加强移植前感染预防及营养干预可改善患儿预后。.

This paper identifies the health penalty experienced by girls due to having a brother from endogenous sibling gender composition. We propose a girls-to-girls comparison strategy and rule out the confounding effect from the sibship size, birth interval, and birth order. Employing an instrumental variable approach and data from the Chinese Family Panel Studies, we find that girls with a brother are demonstrably shorter and report poorer health. This \"brother\'s penalty\" manifests even prenatally. Alternative explanations, such as birth order disadvantages, are carefully addressed and ruled out. The results hold even after excluding gender-neutral ethnic minorities. This observed penalty is likely attributed to unequal resource allocation within families and potential parental neglect. This penalty is amplified in families with lower income and maternal education, implying resource constraints contribute to gender discrimination. Our findings highlight the importance of addressing intrafamily gender bias for ensuring equal opportunities and health outcomes. Clinical trial registration: Not applicable.

BACKGROUND: Positive development plays an important role in youth when dealing with stressful circumstances. According to the resource dilution theory, adolescents with or without siblings may receive different levels of emotional and material resources from their parents. The purpose of this study is to examine the association between the positive development of adolescents in China today with their family characteristics such as the number of siblings.
METHODS: A total of 2072 junior high and senior high school students (13 to 18 years old) in Chengdu, Sichuan, China, were investigated by cluster sampling. The Chinese Positive Youth Development scales (CPYDs) were used to measure positive youth development. The generalized linear model was used to explore the relationships among the number of siblings, parent-child relationships and positive youth development.
RESULTS: Adolescents from only-child families had better performance on positive development (H = 21.87, P < 0.001) and better relationships with parents (H = 15.1, P < 0.05). The positive development of male and female adolescents does not significantly differ in families with different numbers of siblings. The generalized linear model showed that a positive parent-child relationship is positively correlated with adolescent positive development (P < 0.05).
CONCLUSIONS: Positive youth development is not only associated with the number of siblings but also other modifiable familial factors. The positive relationship between parents and adolescents is of great practical value in daily life to improve youth development, and this might be the real lesson the resource dilution theory tells.

BACKGROUND: Previously, a novel multiplex system of 64 loci was constructed based on capillary electrophoresis platform, including 59 autosomal insertion/deletions (A-InDels), two Y-chromosome InDels, two mini short tandem repeats (miniSTRs), and an Amelogenin gene. The aim of this study is to evaluate the efficiencies of this multiplex system for individual identification, paternity testing and biogeographic ancestry inference in Chinese Hezhou Han (CHH) and Hubei Tujia (CTH) groups, providing valuable insights for forensic anthropology and population genetics research.
RESULTS: The cumulative values of power of discrimination (CDP) and probability of exclusion (CPE) for the 59 A-InDels and two miniSTRs were 0.99999999999999999999999999754, 0.99999905; and 0.99999999999999999999999999998, 0.99999898 in CTH and CHH groups, respectively. When the likelihood ratio thresholds were set to 1 or 10, more than 95% of the full sibling pairs could be identified from unrelated individual pairs, and the false positive rates were less than 1.2% in both CTH and CHH groups. Biogeographic ancestry inference models based on 35 populations were constructed with three algorithms: random forest, adaptive boosting and extreme gradient boosting, and then 10-fold cross-validation analyses were applied to test these three models with the average accuracies of 86.59%, 84.22% and 87.80%, respectively. In addition, we also investigated the genetic relationships between the two studied groups with 33 reference populations using population statistical methods of FST, DA, phylogenetic tree, PCA, STRUCTURE and TreeMix analyses. The present results showed that compared to other continental populations, the CTH and CHH groups had closer genetic affinities to East Asian populations.
CONCLUSIONS: This novel multiplex system has high CDP and CPE in CTH and CHH groups, which can be used as a powerful tool for individual identification and paternity testing. According to various genetic analysis methods, the genetic structures of CTH and CHH groups are relatively similar to the reference East Asian populations.

Angelman syndrome (AS, MIM #105830) is a neurodevelopmental disorder characterized by severe intellectual disability, profound developmental delay, movement or balance problems, an excessively cheerful disposition, and seizures. AS results from inadequate expression of the maternal UBE3A gene (MIM #601623), which encodes an E3 ligase in the ubiquitin-proteasome pathway. Here we present the case of two sisters with features consistent with AS who had negative methylation analyses. An autism/intellectual disability expanded panel revealed a maternally inherited novel UBE3A (NM_001354506.2) variant c.2443C>T p.(Pro815Ser) in both patients that was initially classified as a variant of uncertain significance. The patients were enrolled in Indiana University\'s Undiagnosed Rare Disease Clinic (URDC) to further investigate the variant. Additional data, including deep phenotyping, familial segregation analysis, and in silico studies, suggest that the variant is likely pathogenic. 3D modeling studies based on the available crystal structure revealed that the Pro815Ser variant can introduce more flexibility into the protein and alter its enzymatic activity. Recent literature confirms the pathogenic nature of the variant. Reanalysis of the UBE3A variant has heightened existing knowledge of AS and has offered this family an end to their diagnostic odyssey.