• 文章类型: Journal Article
    在不同的热带和亚热带国家,对热带布洛米的敏感与哮喘有关;然而,与这种疾病相关的特定分子成分的信息很少。利用分子诊断,我们试图在哥伦比亚鉴定与哮喘相关的热带B变应原.
    方法:使用内部ELISA系统在几个哥伦比亚城市(Barranquilla,Barranquilla,波哥大,麦德林,卡利,和圣安德烈斯)。研究样本包括儿童和成人(平均[SD]年龄,28[17]年)。使用ELISA抑制评估Blot5和Blot21之间的交叉反应性。
    结果:使用内部ELISA系统在几个哥伦比亚城市进行的一项全国患病率研究中招募的哮喘患者(n=272)和对照组(n=298)确定了8个热带B重组变应原(Blot2、5、7、8、10、12、13和21)的特异性IgE(sIgE)。波哥大,麦德林,卡利,和圣安德烈斯)。研究样本包括儿童和成人(平均[SD]年龄,28[17]年)。使用ELISA抑制评估Blot5和Blot21之间的交叉反应性。
    结论:尽管Blot5和Blot21被认为是常见的致敏剂,这是他们与哮喘的相关性的第一份报告.这两种成分都应包括在分子组中,以诊断热带地区的过敏。
    UNASSIGNED: Sensitization to Blomia tropicalis is associated with asthma in various tropical and subtropical countries; however, information about the specific molecular components associated with this disease is scarce. Using molecular diagnosis, we sought to identify B tropicalis allergens associated with asthma in Colombia.
    METHODS: Specific IgE (sIgE) to 8 B tropicalis recombinant allergens (Blo t 2, 5, 7, 8, 10, 12, 13, and 21) was determined using an in-house ELISA system in asthma patients (n=272) and controls (n=298) recruited in a national prevalence study performed in several Colombian cities (Barranquilla, Bogotá, Medellín, Cali, and San Andrés). The study sample included children and adults (mean [SD] age, 28 [17] years). Cross-reactivity between Blo t 5 and Blo t 21 was evaluated using ELISA-inhibition.
    RESULTS: Specific IgE (sIgE) to 8 B tropicalis recombinant allergens (Blo t 2, 5, 7, 8, 10, 12, 13, and 21) was determined using an in-house ELISA system in asthma patients (n=272) and controls (n=298) recruited in a national prevalence study performed in several Colombian cities (Barranquilla, Bogotá, Medellín, Cali, and San Andrés). The study sample included children and adults (mean [SD] age, 28 [17] years). Cross-reactivity between Blo t 5 and Blo t 21 was evaluated using ELISA-inhibition.
    CONCLUSIONS: Although Blo t 5 and Blo t 21 are considered common sensitizers, this is the first report of their association with asthma. Both components should be included in molecular panels for diagnosis of allergy in the tropics.
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  • 文章类型: Case Reports
    该病例报告使用全外显子组测序(WES)记录了一名27岁女性患有复杂的神经发育障碍(NDD)的诊断和解决方法。该患者被送往精密医学诊所,患有多种诊断,包括智力残疾,自闭症谱系障碍(ASD),强迫症(强迫症),Tics,癫痫发作,与链球菌感染相关的儿科自身免疫性神经精神疾病(PANDAS)。尽管该患者先前进行了染色体微阵列和几种单基因测试,该患者症状的根本原因仍然难以捉摸。WES揭示了HNRNPU基因的致病性错义突变,与HNRNPU相关的神经发育障碍(HNRNPU-NDD)和发育性和癫痫性脑病-54(DEE54,OMIM:#617391)相关。在这个诊断之后,其他治疗临床医生确定了基因检测的其他适应症,然而,由于WES数据很容易获得,临床团队能够重新分析WES数据以解决他们的询问,而不需要额外的检查.这强调了WES在加速诊断中的关键作用,降低成本,并在患者一生中提供持续的临床效用。初级保健环境中的可访问WES数据可以通过通知未来的遗传查询来增强患者护理。加强护理协调,促进精准医学干预,从而减轻家庭和医疗保健系统的负担。
    This case report chronicles the diagnostic odyssey and resolution of a 27-year-old female with a complex neurodevelopmental disorder (NDD) using Whole Exome Sequencing (WES). The patient presented to a precision medicine clinic with multiple diagnoses including intellectual disability, autism spectrum disorder (ASD), obsessive-compulsive disorder (OCD), tics, seizures, and pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS). Although this patient previously had chromosomal microarray and several single-gene tests, the underlying cause of this patient\'s symptoms remained elusive. WES revealed a pathogenic missense mutation in the HNRNPU gene, associated with HNRNPU-related neurodevelopmental disorder (HNRNPU-NDD) and developmental and epileptic encephalopathy-54 (DEE54, OMIM: # 617391). Following this diagnoses, other treating clinicians identified additional indications for genetic testing, however, as the WES data was readily available, the clinical team was able to re-analyze the WES data to address their inquiries without requiring additional tests. This emphasizes the pivotal role of WES in expediting diagnoses, reducing costs, and providing ongoing clinical utility throughout a patient\'s life. Accessible WES data in primary care settings can enhance patient care by informing future genetic inquiries, enhancing coordination of care, and facilitating precision medicine interventions, thereby mitigating the burden on families and the healthcare system.
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  • 文章类型: Journal Article
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  • 文章类型: Case Reports
    本文报道一例巨大胃肠间质瘤(GIST)患者,短时间内腹部迅速膨大,体内感染难以得到有效控制。经过手术结合射频消融及靶向治疗的个体化诊疗,目前暂无明显复发转移迹象。希望通过该病例提高对GIST个体化诊疗的认识,改善预后。.
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  • 文章类型: Letter
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  • 文章类型: Editorial
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  • DOI:
    文章类型: Case Reports
    扁平苔藓(LP)是一种慢性苔藓样皮肤病,粘膜和附属物。典型的LP症状是炎性T细胞在上真皮中移动并以带状模式排列的密集浸润。扁平苔藓的病因尚未确定;然而,已知具有免疫介导的发病机制。扁平苔藓无法治愈,尽管治疗可以减轻症状并防止进一步的问题。抗组胺药,PUVA(补骨脂素加紫外线)治疗,视黄酸,他克莫司软膏,吡美莫司乳膏,以及皮质类固醇是最常用的疗法之一。为了治疗扁平苔藓,个体化顺势疗法药物(iHOM)已显示出卓越的成功。
    该病例在DYPatil同源病医学院和研究中心的皮肤科OPD(门诊部)记录。从2021年3月25日至2021年8月12日,一名32岁的男性扁平苔藓患者接受了个体化顺势疗法药物(iHOM)治疗。结果在随访中进行评估。进行基于改良的Naranjo标准的评估以确定改变是否由顺势疗法药物引起。
    在五个月的观察期内,iHOM医学产生了积极的结果,医生可以将其用作扁平苔藓的其他治疗形式。
    个体化顺势疗法药物(iHOM)根据症状的总体情况规定了硝酸30C。5个月内,疾病的进展停止了,瘙痒得到控制,病变变平了.
    UNASSIGNED: Lichen planus (LP) is a chronic lichenoid inflammatory disease of the skin, mucosa and appendages. The classic LP symptom is a dense infiltration of inflammatory T cells moving in the upper dermis and arranged in a band-like pattern. Lichen planus has an undetermined aetiology; however, it is known to have immune-mediated pathogenesis. Lichen planus cannot be cured, although treatment can lessen symptoms and shield against further problems. Antihistamines, PUVA (psoralen plus ultraviolet) treatment, retinoic acid, tacrolimus ointment, pimecrolimus cream, as well as corticosteroids are among the most often used therapies. To treat Lichen planus, individualized homeopathic medicine (iHOM) has shown excellent success.
    UNASSIGNED: The case was documented at the dermatology OPD (Outpatient Department) of Dr. DY Patil Homoeopathic Medical College and Research Centre. A 32-year-old male patient with lichen planus was treated with individualized homeopathic medicine (iHOM) from March 25, 2021, to August 12, 2021. The results were evaluated at the follow-up visits. An evaluation based on the modified Naranjo criteria was carried out to determine if the alterations were brought on by homeopathic medication.
    UNASSIGNED: Over a five-month observation period, iHOM medicine produced positive results that physicians may utilize as an additional form of treatment for lichen planus.
    UNASSIGNED: Individualized homeopathic medicine (iHOM) Nitric acid 30C was prescribed based on the totality of symptoms. Within 5 months, the disease\'s progression was halted, the itching was controlled, and the lesions flattened.
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  • 文章类型: Clinical Study
    目的:随着精准医学的出现,建立了分子肿瘤委员会(MTBs)来解释基因组结果并指导肿瘤患者靶向治疗的决策.目前没有关于MTB应如何运作的通用准则,因此可以根据哪个MTB正在审查案件来看出差异。本研究评估了当参与者病例由两个不同的MTB审查时,MTB建议的一致性。确定不和谐的潜在原因,并主张建立标准的MTB操作指南。
    方法:晚期癌症患者,对用尽所有标准治疗方案的患者进行目标药物和分析利用登记处(TAPUR)研究筛查.如果治疗方案超出方案基因组匹配规则,则提交病例进行MTB审查,或者确定了多种治疗方案。在2016年至2018年TAPURMTB提交审查的306例病例中,有107例被另一个MTB组随机选择进行二次审查。原始审查的建议没有披露。评估了MTB组建议之间的一致性。一致性定义为关于基因组改变的MTB综述与临床站点提出的研究药物匹配之间的一致性。对不和谐病例进行了专题定性分析,以评估不和谐的原因。
    结果:在79%的病例中观察到完全或部分一致(95%CI,70至86;单侧P=.25)。大多数不一致的分析是由于对拟议治疗的有效性的证据强度存在分歧(32%)。
    结论:当出现相同的参与者病例时,不同的MTB审查组大约80%的时间提出相同或相似的治疗建议.
    OBJECTIVE: With the advent of precision medicine, molecular tumor boards (MTBs) were established to interpret genomic results and guide decision making for targeted therapy in oncology patients. There are currently no universal guidelines for how MTBs should operate and thus variance can be seen depending on which MTB is reviewing the case. This study assesses the concordance of MTB recommendations when a participant case is reviewed by two different MTBs, establishes potential reasons for discordance, and advocates for the establishment of standard MTB operating guidelines.
    METHODS: Participants with advanced cancer, who had exhausted all standard treatment options were screened for the Targeted Agent and Profiling Utilization Registry (TAPUR) Study. Cases were submitted for MTB review if the treatment proposal was outside the protocol genomic matching rules, or if multiple treatment options were identified. Of the 306 cases submitted for review by the TAPUR MTB from 2016 to 2018, 107 were randomly selected for secondary review by a different MTB group. Recommendations from the original review were not disclosed. Concordance between MTB group recommendations was assessed. Concordance was defined as agreement between MTB reviews on the genomic alteration and study drug match proposed by the clinical site. Thematic qualitative analysis was conducted for the discordant cases to assess reasons for discordance.
    RESULTS: Complete or partial concordance was observed in 79% of cases (95% CI, 70 to 86; one-sided P = .25). Most discordant analyses were due to disagreements on the strength of evidence regarding efficacy of the proposed treatment (32%).
    CONCLUSIONS: When presented with identical participant cases, different MTB review groups make the same or similar treatment recommendations approximately 80% of the time.
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  • 文章类型: Journal Article
    目的:准确理解下一代测序(NGS)提供的基因组和转录组数据对于有效利用精确肿瘤学至关重要。分子肿瘤委员会(MTB)旨在将NGS报告中的复杂数据转化为有效的临床干预措施。通常,MTB治疗建议不同于NGS报告中的建议。在这项研究中,我们分析这些建议和不一致背后的理由之间的不一致,在非高收入环境中,与国际投入评估MTB在临床实践中的必要性。
    方法:我们整理了来自虚拟托管在钦奈的MTB的数据,印度。我们纳入了在实体组织或液体活检上有NGS报告的恶性肿瘤患者,并排除那些数据不完整的人。分析并评估每个临床病例的MTB表格和NGS报告的建议一致性。一致性定义为MTB表格中的第一个建议与NGS报告中建议的治疗建议之间的一致性。不一致是缺乏上述协议。确定并记录了不一致的理由。
    结果:分析了70例MTB报告,其中49例符合纳入标准。建议不一致为49%(49个中的24个)。不一致的建议主要是由于该药物的证据水平低(占病例的75%)。
    结论:MTB和NGS供应商建议之间的不一致突出了MTB的临床实用性。该计划提供的教育经验是虚拟学术合作如何跨地理边界增强患者护理和提供者教育的一个例子。
    OBJECTIVE: Accurate understanding of the genomic and transcriptomic data provided by next-generation sequencing (NGS) is essential for the effective utilization of precision oncology. Molecular tumor boards (MTBs) aim to translate the complex data in NGS reports into effective clinical interventions. Often, MTB treatment recommendations differ from those in the NGS reports. In this study, we analyze the discordance between these recommendations and the rationales behind the discordances, in a non-high-income setting, with international input to evaluate the necessity of MTB in clinical practice.
    METHODS: We collated data from MTB that were virtually hosted in Chennai, India. We included patients with malignancies who had NGS reports on solid tissue or liquid biopsies, and excluded those with incomplete data. MTB forms and NGS reports of each clinical case were analyzed and evaluated for recommendation concordance. Concordance was defined as an agreement between the first recommendation in the MTB forms and the therapeutic recommendations suggested in the NGS report. Discordance was the absence of the said agreement. The rationales for discordance were identified and documented.
    RESULTS: Seventy MTB reports were analyzed with 49 cases meeting the inclusion criteria. The recommendation discordance was 49% (24 of 49). Discordant recommendations were mainly due to low level of evidence for the drug (75% of cases).
    CONCLUSIONS: The discordance between MTB and NGS vendor recommendations highlights the clinical utility of MTB. The educational experiences provided by this initiative are an example of how virtual academic collaborations can enhance patient care and provider education across geographic borders.
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  • 文章类型: Case Reports
    背景:化生乳腺癌(MpBC)是一种极为罕见的实体,占所有恶性乳腺肿瘤的不到1%。主要是三阴性,他们因化学抗性而臭名昭著,复发率高,无病生存率(DFS)下降。所有这些都对BC死亡率有显著影响,并导致预后不良。有限的证据导致了针对该实体的特定治疗指南的空白,因此对于临床医生来说仍然是未知的领域。
    方法:我们报告一例46岁的绝经前女性,左侧化生三阴性T3N2aM0BC伴间质分化(高级别),我们接受新辅助化疗治疗,通过Telecobalt机器进行极端肿瘤成形术和辅助放射治疗的主要手术。与预期的疾病侵袭性病程和治疗不良预后相反,患者目前处于缓解期,随访超过2年,无进展。
    结论:在这种病理实体的管理方面的经验有限,需要对其进行更多的研究,特别关注靶向治疗。讨论定制方法的可能性,而不是一刀切的方法可能有助于为MpBC治疗的未来铺平道路。
    Metaplastic Breast Cancer (MpBC) is an exceedingly rare entity, accounting for less than 1% of all malignant breast tumours. Predominantly triple-negative, they are notorious for their chemoresistance, high rates of recurrence and decreased disease-free survival (DFS). All this contributes significantly to BC mortality and results in poor prognostic implications. Limited evidence has led to a lacuna of specific treatment guidelines for this entity and hence remains an uncharted territory for clinicians.
    We report a case of a 46 year old premenopausal female with left-sided metaplastic triple negative T3N2aM0 BC with mesenchymal differentiation (high grade) whom we treated with neoadjuvant chemotherapy, primary surgery in the form of extreme oncoplasty and adjuvant radiotherapy by Telecobalt machine. Contrary to the expected aggressive course of the disease and poor prognosis of treatment, the patient is presently in remission without progression for over 2 years of follow up.
    Limited experience in management of this pathological entity warrants the need for more research on it, with a special focus on targeted therapy. Discussing possibilities of a tailored approach, rather than a one-size-fits-all approach may aid in paving the path for the future of MpBC treatment.
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