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Sclerotherapy of abdominal lymphangioma: An effective treatment modality 腹部淋巴管瘤的硬化疗法:一种有效的治疗方式
Q2 Medicine Pub Date : 2025-09-01 DOI: 10.1016/j.mjafi.2024.01.004
Meghna Kinjalk , Deepak Goyal , Dhruv Bhoria , Sujoy Neogi
Abdominal lymphangioma is rare in children. The etiopathogenesis and the treatment modalities to be used are not clearly defined. We report a case of a 4-year-old male patient presenting with abdominal pain. On examination, there was a mass in the left flank. CT showed an intraperitoneal multiloculated cystic lesion. The patient was given intralesional bleomycin therapy and followed up, there was no recurrence.
Abdominal malformations should be considered for cases with gradually enlarging abdominal lumps. Treatment with intralesional bleomycin yields excellent outcomes and should be preferred in cases where complete surgical resection is not feasible.
腹部淋巴管瘤在儿童中很少见。发病机制和治疗方式尚不明确。我们报告一个4岁的男性病人表现为腹痛。经检查,左侧有肿块。CT显示腹腔内多室囊性病变。患者给予病灶内博来霉素治疗并随访,无复发。腹部肿块逐渐增大的病例应考虑腹部畸形。病灶内用博来霉素治疗效果很好,在不能完全手术切除的情况下应优先使用博来霉素。
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引用次数: 0
Estimation of fetomaternal haemorrhage using flow cytometry in antenatal care patients at an tertiary care hospital in Western Maharashtra 在马哈拉施特拉邦西部一家三级医院产前护理患者中使用流式细胞术评估胎母出血
Q2 Medicine Pub Date : 2025-09-01 DOI: 10.1016/j.mjafi.2025.04.006
Ujjwal Dimri , A.K. Baranwal , Bidhan Roy , Gurpreet Kaur , Amit Ajay Pawar , Rajat Jagani , Amit Kumar Biswas , Anurag Gairola

Background

Fetomaternal haemorrhage (FMH), in which foetal red blood cells enter maternal circulation, can cause complications like foetal anaemia, hydrops foetalis, alloimmunisation and foetal death. A notable gap exists in the literature regarding FMH quantification in the Indian patient population vis-a-vis the Western population. This study estimated severe FMH using flow cytometry (FCM) in antenatal patients at a tertiary care hospital in Western Maharashtra.

Methods

This single-centre, prospective observational study was conducted over two years in our institute on 100 consenting antenatal patients. Venous blood samples were analysed with dual-colour FCM to quantify foetal red blood cells, and FMH volume was calculated.

Results

Among the 100 antenatal patients, 54% were primigravida with a mean age of 25.68 years. Severe FMH (>30 ml) was detected in 40% of participants using FCM. Most mothers (94%) and newborns (97%) were RhD positive, with no active alloimmunisation cases. Statistical analysis showed no significant links between FMH and maternal age, blood group, parity, delivery type, haemoglobin levels, gestational age, or newborn gender, except for a significant (p = 0.032) association with Rh status.

Conclusion

Presence of severe FMH in up to 40% of our study population indicates that severe FMH in present Indian subset of antenatal care (ANC) clientele is a considerable phenomenon and underscores the need to conduct research in Indian population in this direction.
Similarly, the modality for FCM for FMH evaluation in Indian patient clientele should be considered to all the high-risk ANC where severe FMH is expected.
胎儿红细胞进入母体循环的胎母出血(FMH)可导致并发症,如胎儿贫血、胎儿水肿、同种异体免疫和胎儿死亡。文献中关于印度患者群体相对于西方人群的FMH量化存在显著差距。本研究利用流式细胞术(FCM)估计了马哈拉施特拉邦西部一家三级医院产前患者的严重FMH。方法本研究是一项单中心前瞻性观察性研究,在我们的研究所进行了两年多的时间,有100名产前患者同意。采用双色流式细胞仪分析静脉血,定量测定胎儿红细胞,并计算FMH体积。结果100例产前患者中,初产妇占54%,平均年龄25.68岁。使用FCM的参与者中有40%检测到严重FMH (30 ml)。大多数母亲(94%)和新生儿(97%)为RhD阳性,无主动同种免疫病例。统计分析显示,FMH与产妇年龄、血型、胎次、分娩类型、血红蛋白水平、胎龄或新生儿性别之间没有显著联系,但与Rh状态有显著关联(p = 0.032)。结论高达40%的研究人群存在严重的FMH,这表明目前印度产前保健(ANC)客户群体中严重的FMH是一个相当大的现象,并强调了在印度人群中进行该方向研究的必要性。同样,在印度患者客户中,FCM用于FMH评估的方式应考虑到所有可能出现严重FMH的高风险ANC。
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引用次数: 0
An offbeat presentation of primary male infertility: de la Chapelle syndrome 原发性男性不育症的一个不寻常的表现:德拉夏贝尔综合征
Q2 Medicine Pub Date : 2025-09-01 DOI: 10.1016/j.mjafi.2023.08.008
Aatish Saraswat , N. Nagaraja , Barun Kumar Chakrabarty , Paresh Singhal
In 20-30% cases of infertility, a primary defect is found in the male partner and contribute to 50% of patients overall. Studies have shown that the prevalence of both numerical and structural chromosomal abnormalities is increased in such men. A few genes have been implicated in sex development during gonadal and functional differentiation, where the maintenance of the somatic sex as either male or female is achieved by the suppression of the alternate route. One such entity in the vast group of male infertility etiologies is the de la Chapelle syndrome or 46, XX testicular disorder of sex differentiation (DSD), which is a rare disorder characterized by discordance between the male phenotype and the female karyotype. This syndrome's exact molecular and genetic basis is yet to be described in full potential. Due to the rare diagnosis of such cases, we report this case of infertile male diagnosed as SRY-positive 46, XX testicular DSD, aiming to add to the previously reported cases in the literature.
在20-30%的不孕症病例中,主要缺陷发生在男性伴侣身上,占患者总数的50%。研究表明,在这些男性中,数量和结构染色体异常的患病率都有所增加。在性腺和功能分化过程中,一些基因与性发育有关,其中体细胞性别作为男性或女性的维持是通过抑制替代途径实现的。在众多男性不育病因中,有一个这样的实体是de la Chapelle综合征或46xx睾丸性别分化障碍(DSD),这是一种罕见的疾病,其特征是男性表型和女性核型之间的不一致。这种综合征的确切分子和遗传基础尚未得到充分的描述。由于此类病例的诊断罕见,我们报道这例不育男性,诊断为sry阳性46,XX睾丸DSD,旨在补充文献中已有报道的病例。
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引用次数: 0
Genetic discovery in vesicoureteral reflux using exome sequencing: A pilot study 利用外显子组测序发现膀胱输尿管反流的基因:试点研究
Q2 Medicine Pub Date : 2025-09-01 DOI: 10.1016/j.mjafi.2023.10.011
R.W. Thergaonkar , Vijeta Manchanda , Gourja Bansal , Arti Yadav , Jyotsna Singh , Binuja Varma , Debasis Dash , Mitali Mukerji , Arvind Bagga , Pankaj Hari

Background

Vesicoureteral reflux (VUR) is a genetically heterogenous disorder. We conducted this pilot study to explore the possibility of genetic discovery in patients with VUR using exome sequencing.

Methods

Whole exome sequencing was performed on the DNA of ten Indian children (nine boys) with bilateral grade IV/V reflux and bilateral renal hypodysplasia (extreme phenotype) as well as that of a family with 2 affected male siblings with bilateral VUR and chronic kidney disease. For prioritization of single nucleotide variations (SNVs) in the ten children with extreme phenotype, extremely rare and deleterious variations were selected from a list of 778 genes of biological relevance. Hypothesis-free prioritization was performed in the VUR family. Copy-number variations (CNV) were also called and prioritized from whole exome data.

Results

Among ten patients with extreme phenotype, rare and novel and deleterious variants related to VUR and renal hypodysplasia were identified in 7/10 patients each. At least one prioritized variant in either genes related to VUR per se or renal hypodysplasia was seen in 8/10 patients. All patients carried different variations. Among the remaining two patients, one carried a pathogenic CNV. In the VUR family, a rare and deleterious variant in SLIT1 gene was identified.

Conclusion

Sharp phenotyping in combination with exome sequencing using a combination of approaches including hypothesis-driven and hypothesis-free for prioritization of SNVs and study of CNVs seems to be an optimal method of genetic discovery of VUR. VUR is genetically heterogenous.
膀胱输尿管反流(VUR)是一种遗传异质性疾病。我们进行了这项初步研究,以探索使用外显子组测序在VUR患者中发现基因的可能性。方法对10例患有双侧IV/V级反流和双侧肾发育不良(极端表型)的印度儿童(9例男孩)以及2例患有双侧VUR和慢性肾脏疾病的男性兄弟姐妹的家庭进行全外显子组测序。为了对10个极端表型儿童的单核苷酸变异(snv)进行优先排序,从778个生物学相关基因中选择了极其罕见和有害的变异。在VUR家族中进行无假设优先排序。拷贝数变异(CNV)也被调用并从整个外显子组数据中优先排序。结果在10例极端表型患者中,与VUR和肾发育不良相关的罕见、新型和有害变异各占7/10例。在8/10的患者中,与VUR本身或肾发育不良相关的基因中至少有一个优先变异。所有患者都有不同的变异。在其余两名患者中,一名携带致病性CNV。在VUR家族中,发现了SLIT1基因的一种罕见且有害的变异。结论尖锐表型分型与外显子组测序相结合,采用假设驱动和无假设驱动的方法来确定snv的优先级和cnv的研究似乎是发现VUR遗传的最佳方法。VUR在基因上是异质的。
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引用次数: 0
Evaluation of diagnostic interval in children with newly diagnosed paediatric cancers: A Cross-sectional study 关于新诊断儿科癌症患儿诊断间隔评估及其影响因素的横断面研究
Q2 Medicine Pub Date : 2025-09-01 DOI: 10.1016/j.mjafi.2024.04.020
Monisha Manoharan , Sanjeev Khera , Aparajita Gupta , Sandeep Dhingra

Background

Diagnostic interval/delay (DI) denotes the duration between first presentations to healthcare provider to the definitive diagnosis of cancer. Prolonged DI is a major contributor to deaths among children with malignancies in low-middle-income countries (LMICs). The data on DI and factors affecting it are limited from LMIC.

Methods

This cross-sectional study enrolled patients/children<12 years with proven/suspected malignancies. Children already on definitive chemotherapy, who died before a definitive diagnosis and with benign tumours were excluded. The parents or caregivers were interviewed individually using a customized questionnaire. Various intervals in referral chain like patient interval/delay (PI), DI and treatment interval/delay (TI) and factors affecting DI were evaluated.

Results

Out of 120 eligible children; 79 with median age 43 months (interquartile range [IQR]: 28–81) were analyzed. Haematological malignancies (n = 40) and non-haematological malignancies (n = 39) were equally distributed. Median total delay was 74 days (14–88 days). Median DI was 17 days (IQR: 8–54). The main contributor to delay was due to referral delay by primary and secondary physician (p < 0.05). The median PI was 2 day (IQR: 0–7.5) and median TI was 1 day (IQR: 0–4). Prolonged DI (DI > 30 days) was seen in 33 (41.8%) children. Trial of alternative medicine was the only significant factor associated with prolonged DI in univariate and multivariate analysis with odds ratio of 6.24. Other demographic, socioeconomic, health-seeking journey and disease-related factors were not found to be associated with prolonged DI.

Conclusions

Significant delay exists in paediatric cancer management in LMIC. Augmentation of physician and parental awareness is the key to decrease these delays.
背景:诊断间隔/延迟(DI)是指首次向医疗保健提供者报告到最终诊断癌症之间的时间。长期的残智治疗是中低收入国家恶性肿瘤儿童死亡的一个主要原因。LMIC对DI及其影响因素的数据有限。方法本横断面研究纳入确诊/疑似恶性肿瘤的12岁患者/儿童。已经接受明确化疗、在明确诊断前死亡且患有良性肿瘤的儿童被排除在外。使用定制的问卷对父母或照顾者进行单独访谈。评估转诊链中患者间隔/延迟(PI)、治疗间隔/延迟(TI)及影响DI的因素。结果120名符合条件的儿童中;79例,中位年龄43个月(四分位数间距[IQR]: 28-81)。血液系统恶性肿瘤(n = 40)和非血液系统恶性肿瘤(n = 39)平均分布。中位总延迟为74天(14-88天)。中位DI为17天(IQR: 8-54)。造成延误的主要原因是主治医师和二级医师转诊延误(p < 0.05)。中位PI为2天(IQR: 0-7.5),中位TI为1天(IQR: 0-4)。延长DI (DI >; 30天)33例(41.8%)患儿。在单因素和多因素分析中,替代医学试验是唯一与DI延长相关的显著因素,优势比为6.24。其他人口统计学、社会经济、求医旅程和疾病相关因素未发现与延长残障期相关。结论低收入国家儿童肿瘤治疗存在明显的延误。提高医生和家长的意识是减少这些延误的关键。
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引用次数: 0
Autism spectrum disorder: An Indian perspective 自闭症谱系障碍:一个印度人的视角
Q2 Medicine Pub Date : 2025-09-01 DOI: 10.1016/j.mjafi.2025.08.003
Samir H. Dalwai , K.S. Multani , Hilla Sookhadwala
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition marked by challenges in social communication and restricted behaviors. While global prevalence continues to rise, low- and middle-income countries like India face unique challenges due to cultural, geographic, and resource-related disparities. Despite increased awareness and policy support such as the Rights of Persons with Disabilities Act (RPWD), gaps persist in early diagnosis, evidence-based interventions, and culturally appropriate care. Existing models, largely adapted from Western practices, often fail to address the socio-cultural realities of Indian families. The New Horizons Developmental Program (NHDP) proposes a paradigm shift—a caregiver-mediated, developmental, and culturally responsive model grounded in developmental principles. This developmentally informed, family- and community-centered approach offers a scalable model for transforming autism care across diverse Indian contexts. India’s autism care requires a dual-focus strategy that redefines therapeutic priorities and broadens access to autism services. Traditional therapies often miss core developmental deficits, limiting outcomes. The NHDP model offers a holistic, culturally grounded framework that empowers caregivers and integrates disciplines. Scaling such models via digital platforms and grassroot training within existing public health systems can create a sustainable ecosystem where early childhood development is a national priority.
自闭症谱系障碍(ASD)是一种复杂的神经发育疾病,其特征是社交障碍和行为受限。虽然全球患病率持续上升,但由于文化、地理和资源相关的差异,印度等低收入和中等收入国家面临着独特的挑战。尽管认识和政策支持有所提高,如《残疾人权利法案》(RPWD),但在早期诊断、循证干预和符合文化的护理方面仍然存在差距。现有的模式,很大程度上改编自西方的做法,往往不能解决印度家庭的社会文化现实。新视野发展计划(NHDP)提出了一种范式转变——一种以发展原则为基础的照顾者介导的、发展的、文化响应的模式。这种发展知情,以家庭和社区为中心的方法为在不同的印度环境中转变自闭症护理提供了可扩展的模式。印度的自闭症护理需要一项双重重点战略,重新确定治疗重点并扩大获得自闭症服务的机会。传统的治疗方法往往忽略了核心的发育缺陷,限制了结果。国家卫生发展计划模式提供了一个全面的、以文化为基础的框架,赋予护理人员权力,并整合了学科。通过数字平台和现有公共卫生系统内的基层培训来推广这些模式,可以创建一个可持续的生态系统,在这个生态系统中,儿童早期发展是国家的优先事项。
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引用次数: 0
A study of sleep disorders in Indian children: Tip of the iceberg 印度儿童睡眠障碍的研究:冰山一角
Q2 Medicine Pub Date : 2025-09-01 DOI: 10.1016/j.mjafi.2024.09.005
Hardeep Kaur , Harshita Chaudhary , Kundan Vashishtha , Gaurav Mahajan , Vivek Bhat , Vivek Hande

Background

Insufficient quality and quantity of sleep has dangerous neurodevelopmental outcomes in the form of poor concentration, poor scholastic performance, hyperactivity and obstructive sleep apnea. There is no structured data on prevalence of various sleep behaviours and sleep related disorders in children in India. We aim to study sleep behaviour of children to know the common paediatric sleep related disorders.

Methods

We enrolled 270 children between the age of 1 to 18 years visiting pediatric OPDs for minor ailments between June 2022 to June 2023 using Children Sleep habit questionnaire – (NICHD SECCYD, Wisconsin). Children having clinical features suggestive of obstructive sleep apnoea were further subjected to overnight level 1 Polysomnography study.

Results

Most children had bed time consistency with average sleep duration of Mean ± 2SD (8.58 ± 1.35 h, N=270), which was shorter than global average. Allergic disorders were significantly high with prevalence of allergic rhinitis up to 30 % and asthma between 8-10 % in our study. Prevalence of obstructive sleep apnea on Polysomnography study was 5.6%, parent reported snoring 10 %, restless leg movements 30% and open mouth breathing in 35% Indian children. In our study, Asthma had statistically significant association with sleep disordered breathing and obstructive sleep apnea with p value < 0.01.

Conclusions

Asthma has statistically significant association with obstructive sleep apnoea in our study. Proper asthma treatment may reduce the burden of obstructive sleep apnoea in children. There is a growing need to screen children regularly for sleep related issues on routine visits.
背景:睡眠质量和数量不足会导致注意力不集中、学习成绩差、多动和阻塞性睡眠呼吸暂停等危险的神经发育后果。关于印度儿童中各种睡眠行为和睡眠相关障碍的患病率,没有结构化的数据。我们的目的是研究儿童的睡眠行为,以了解常见的儿童睡眠相关障碍。方法:使用儿童睡眠习惯问卷(NICHD SECCYD, Wisconsin),我们招募了270名在2022年6月至2023年6月期间因小病就诊的1至18岁儿童。具有提示阻塞性睡眠呼吸暂停临床特征的儿童进一步进行1级多导睡眠图夜间研究。结果多数患儿睡眠时间一致,平均睡眠时间为8.58±1.35 h (N=270),低于全球平均水平。在我们的研究中,过敏性疾病的患病率非常高,过敏性鼻炎的患病率高达30%,哮喘的患病率在8- 10%之间。在多导睡眠图研究中,阻塞性睡眠呼吸暂停的患病率为5.6%,父母报告打鼾的比例为10%,不安分的腿部运动占30%,张嘴呼吸占35%。在我们的研究中,哮喘与睡眠呼吸障碍和阻塞性睡眠呼吸暂停有统计学意义(p值<; 0.01)。结论哮喘与阻塞性睡眠呼吸暂停有统计学意义。适当的哮喘治疗可以减轻儿童阻塞性睡眠呼吸暂停的负担。越来越多的人需要在常规检查中定期检查儿童的睡眠相关问题。
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引用次数: 0
Awareness, interpretation ability of nutrition label, and consumption practices about processed food packets among adolescents: A cross-sectional study from Western-India 青少年对营养标签的认知、解读能力和加工食品包装的消费习惯:一项来自印度西部的横断面研究
Q2 Medicine Pub Date : 2025-09-01 DOI: 10.1016/j.mjafi.2025.04.011
Daivikkumar Hemalkumar Doshi , Kedar Gautambhai Mehta , Jugal Hiren Bhatt , Paragkumar Chavda , Arunkumar Chaudhari

Background

Lack of formal education in adolescents about the interpretation of nutrition labels led to the formation this study which aimed to assess the awareness and interpretation ability of nutrition label, and consumption practices about processed food packets among school-going adolescents.

Methods

A descriptive cross-sectional study was conducted in four schools of Vadodara, Gujarat, among 361 students of classes 11 and 12 over three months. A validated, pilot-tested 20 points questionnaire was used to assess awareness (12 questions), and interpretation ability (8 questions) related to nutrition labels, and consumption practices (10 questions) of processed food packets. Data were collected via online Google Forms during the COVID-19 period and analyzed using Microsoft Excel. Ethical approval was obtained, and confidentiality was maintained throughout the study.

Results

The study involved 361 adolescents. They scored an average of 11.2 (56%) out of 20. This indicates that 44% of school-going adolescents had poor knowledge and couldn't interpret nutrition label correctly. They faced challenges answering questions regarding best-before date, food additives, nutritional ingredients, Indian Standards Institution (ISI) mark and Food Safety and Standards Authority of India (FSSAI) symbols. Their weekly intake of packaged food was high: 43% ate noodles for 1–7 days, 78% ate biscuits every other day, and 60% ate potato chips for at least one day.

Conclusion

The majority of adolescents have unhealthy habits of consuming packaged food, and 44% of them had poor knowledge and difficulty interpreting nutrition labels. Such outcome suggests an urgent need for interventions in the school curriculum to enhance their health and nutrition knowledge.
背景:由于青少年缺乏关于营养标签解读的正规教育,因此形成了本研究,旨在评估在学青少年对营养标签的认知和解读能力,以及对加工食品包装的消费行为。方法采用描述性横断面研究方法,对古吉拉特邦瓦多达拉市4所学校11、12年级361名学生进行为期3个月的调查。一份经过验证的、试点测试的20分问卷用于评估与营养标签相关的意识(12个问题)和解释能力(8个问题),以及加工食品包装的消费习惯(10个问题)。在COVID-19期间通过在线谷歌表格收集数据,并使用Microsoft Excel进行分析。获得伦理批准,并在整个研究过程中保持保密。结果该研究涉及361名青少年。20分中,他们的平均得分为11.2分(56%)。这表明44%的学龄青少年知识贫乏,不能正确解读营养标签。他们面临的挑战是回答有关最佳食用日期、食品添加剂、营养成分、印度标准协会(ISI)标志和印度食品安全和标准局(FSSAI)标志的问题。他们每周对包装食品的摄入量很高:43%的人在1-7天内吃面条,78%的人每隔一天吃饼干,60%的人至少吃一天薯片。结论绝大多数青少年存在不良的包装食品消费习惯,其中44%的青少年对包装食品的营养标签缺乏了解和理解。这一结果表明,迫切需要在学校课程中进行干预,以提高他们的健康和营养知识。
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引用次数: 0
A pilot study to evaluate the efficacy of robotic biofeedback based upper limb rehabilitation in children with hemiplegic cerebral palsy 一项评估基于机器人生物反馈的上肢康复在偏瘫性脑瘫儿童中的疗效的初步研究
Q2 Medicine Pub Date : 2025-09-01 DOI: 10.1016/j.mjafi.2025.01.010
J.N. Goswami , Vishal Sondhi , S.K. Patnaik , Pawan Dhull , Rohit Tandon , Manu Bamal , Ankita Gambhirrao

Background

Robotic biofeedback-based Cerebral Palsy (CP) rehabilitation is a novel rehabilitative modality. This single (assessor) blind randomized controlled multicentric pilot trial compared the efficacy of robotic biofeedback-based therapy as an add-on therapy along with conventional physiotherapy versus conventional physiotherapy alone in children with hemiplegic CP between 5-18 years.

Methods

The trial was conducted in two centres for 2.5 years. Hepiplegic CP children with Gross Motor Function Classification System (GMFCS) scores: I-III children were enrolled. Enrolled children's baseline paretic limb Hand-Grip Strengths and Quality of Upper Extremity Skills Test (QUEST) scores were recorded. Children in Intervention Arm received robotic biofeedback-based therapy and conventional physiotherapy. In Control Arm, only conventional physiotherapy was administered. Differential changes in mean hand-grip strengths after 12 months were compared between the two groups (primary outcome). Secondary outcomes included changes in grip strength at 15 months and QUEST scores at 12 and 15 months.

Results

60 children were enrolled (30 in each Arm). There were 5 dropouts (2 from Intervention Arm). The difference of mean hand-grip strengths between the two groups at 12 months was (-) 0.05, which was insignificant (p = 0.40). The difference in secondary outcomes between the two groups was not significant either. No adverse effects were noted.

Conclusion

Add-on robotic biofeedback-based upper limb rehabilitation does not improve hand-grip strength (at 12 and 15 months) and QUEST scores (at 12 and 15 months) of hemiplegic CP children undergoing conventional physiotherapy. The study demonstrated the feasibility, acceptability and lack of adverse effects of this hybrid modality.
基于机器人生物反馈的脑瘫(CP)康复是一种新型的康复方式。这项单盲(评估者)随机对照多中心试点试验比较了机器人生物反馈治疗作为常规物理治疗的附加治疗与常规物理治疗单独治疗在5-18岁偏瘫CP儿童中的疗效。方法在两个中心进行为期2.5年的试验。大运动功能分类系统(GMFCS)评分的肢体瘫痪CP儿童:入组I-III儿童。记录入组儿童的基线双亲肢体握力和上肢技能质量测试(QUEST)得分。干预组儿童接受机器人生物反馈治疗和常规物理治疗。对照组仅给予常规物理治疗。比较两组患者12个月后平均握力的差异变化(主要结局)。次要结果包括15个月时握力的变化以及12和15个月时的QUEST评分。结果共纳入60例儿童(每组30例)。有5例退出(2例来自干预组)。两组患者12个月时平均握力差异为(-)0.05,差异无统计学意义(p = 0.40)。两组间的次要结局也无显著差异。没有发现不良反应。结论基于机器人生物反馈的上肢康复对接受常规物理治疗的偏瘫CP患儿手部握力(12个月和15个月)和QUEST评分(12个月和15个月)没有改善作用。研究证明了这种混合模式的可行性、可接受性和缺乏不良影响。
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引用次数: 0
Prevalence, clinical and haematological profile and outcome of BCR-ABL1-like acute lymphoblastic leukaemia in Indian children: A prospective observational study 印度儿童 BCR-ABL1 样急性淋巴细胞白血病的发病率、临床和血液学特征及预后:前瞻性观察研究
Q2 Medicine Pub Date : 2025-09-01 DOI: 10.1016/j.mjafi.2024.04.017
Sanjeev Khera , Rajan Kapoor , Amit Kumar , Ankur Ahuja , Jasdeep Singh , Preeti Tripathi , Rajiv Kumar

Background

BCR-ABL1-like acute lymphoblastic leukaemia (ALL) represents a perplexing subclass of ALL mainly due to genomic heterogeneity and non-availability of standardized diagnostic tests. The data on prevalence, clinical–haematological profile and outcome are limited, more so from low-middle income countries.

Methods

This prospective observational study enrolled children<14 years with B-ALL. Recurrent genetic/chromosomal aberrations were excluded. BCR-ABL1-like aberrations were analysed using Polymerized Chain Reaction (PCR) or Next-Generation Sequencing (NGS). Two groups with/without BCR-ABL1-like ALL (Mut+/Mut-) were compared.

Results

Out of 214 eligible children; 75 with “B-other ALL” were analysed for BCR-ABL1-like aberrations. Their prevalence was 34/214 (15.8%) in B-ALL and 34/75 (45.3%) in “B-other” ALL (PCR:33.3% and NGS:53.3%). Majority of the aberrations were JAK2E16 and ILR7e5/ILR7e6 with PCR and RAS pathway and PAX5 fusion with NGS. Baseline demographic, clinical and laboratory parameters including aberrant flowcytometry were comparable in Mut+ and Mut-groups. Children with day-8 absolute blast count (ABC) were higher in Mut+ group. High end-induction minimal residual disease (MRD) was comparable in two groups. Number of NCI-standard risk (SR) at diagnosis with high D-8 ABC or high MRD was higher in Mut+ group. Similar results were found when aberrations were analysed by NGS alone. In all 56 children are alive, 19 had an event (relapse/death). The outcomes were comparable in two groups with median follow-up of 1075 days (IQR: 660–1527); when analysis was based on combined as well as NGS-based methodology alone.

Conclusions

We report 15.8% prevalence of BCR-ABL1-like ALL in children by PCR or NGS. High D-8 ABC was associated with BCR-ABL1-like ALL with no impact on outcomes.
dbcr - abl1样急性淋巴细胞白血病(ALL)是一种令人困惑的急性淋巴细胞白血病亚型,主要是由于基因组异质性和无法获得标准化诊断测试。关于患病率、临床血液学概况和结果的数据有限,中低收入国家的数据更是如此。方法本前瞻性观察研究纳入14岁B-ALL患儿。排除复发性遗传/染色体畸变。采用聚合链反应(PCR)或新一代测序(NGS)分析bcr - abl1样畸变。比较两组有/无bcr - abl1样ALL (Mut+/Mut-)。结果在214名符合条件的儿童中;对75例“B-other ALL”患者进行bcr - abl1样畸变分析。B-ALL患病率为34/214 (15.8%),B-other ALL患病率为34/75 (45.3%)(PCR:33.3%, NGS:53.3%)。大多数畸变为JAK2E16和ILR7e5/ILR7e6与PCR和RAS通路以及PAX5与NGS融合。Mut+组和Mut-组的基线人口学、临床和实验室参数(包括异常流式细胞术)具有可比性。Mut+组患儿第8天绝对爆炸计数(ABC)较高。两组的高端诱导最小残留病(MRD)具有可比性。诊断为高D-8 ABC或高MRD时nci标准风险(SR)数在Mut+组较高。当单独使用NGS分析畸变时,发现了类似的结果。在所有存活的56名儿童中,有19名发生了事件(复发/死亡)。两组的结果具有可比性,中位随访1075天(IQR: 660-1527);当分析仅基于综合和基于ngs的方法时。结论通过PCR或NGS检测,我们报告了15.8%的儿童bcr - abl1样ALL的患病率。高D-8 ABC与bcr - abl1样ALL相关,对预后无影响。
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Medical Journal Armed Forces India
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