When Fryn met Edward: Two rare syndromes in a single patient

A neonate born at our centre was diagnosed as Fryns Syndrome ie congenital diaphragmatic hernia with facial dysmorphism and distal limb anomalies, which is a rare disorder with only a few hundred cases reported till date.With high clinical index of suspicion and further evaluation, the diagnosis was confirmed. The baby was initially stabilized and later underwent repair of the diaphragmatic hernia. Despite best measures, the baby could not be salvaged. When severe, this can be lethal and diagnosis can only be made after autopsy. However, with early suspicion, better modalities of investigations available and improved NICU care, these babies can be salvaged. We report a case of Fryns Syndrome who was incidentally found to have Edward Syndrome as well. Such an extremely rare combination is yet to be reported in medical literature.Also with updated genetic studies, better diagnostics and treatment options coming up in future, there are chances to improve the survivability of these babies. It is prudent to document all such cases to aid in better understanding of the disease process.     

妊娠合并地中海贫血的产科管理

妊娠合并地中海贫血（thalassemia）是一种发生在妊娠期的单基因组遗传的溶血性疾病。由于血液中血红蛋白的组成比例失衡,妊娠合并地中海贫血患者血液系统发生了改变,可能会影响母体的心脏功能,增加血栓形成风险,损害免疫系统,使内分泌系统紊乱等。以往研究关注妊娠合并地中海贫血的流行病学及发病机制,缺乏对其所带来的并发症的妊娠期管理、遗传咨询及产前诊断的系统性阐述。从病变类型和发病机制入手,深度剖析地中海贫血在妊娠期的特有并发症及相应的处理方式,以期能取得更好的妊娠结局及围生儿结局。     

Communicating polygenic risk scores in the familial breast cancer clinic

ObjectiveTo describe the communication of polygenic risk scores (PRS) in the familial breast cancer setting.MethodsConsultations between genetic healthcare providers (GHP) and female patients who received their PRS for breast cancer risk were recorded (n = 65). GHPs included genetic counselors (n = 8) and medical practitioners (n = 5) (i.e. clinical geneticists and oncologists). A content analysis was conducted and logistic regression was used to assess differences in communication behaviors between genetic counselors (n = 8) and medical practitioners (n = 5).ResultsOf the 65 patients, 31 (47.7 %) had a personal history of breast cancer, 18 of whom received an increased PRS (relative risk >1.2). 25/34 unaffected patients received an increased PRS. Consultations were primarily clinician-driven and focused on biomedical information. There was little difference between the biomedical information provided by genetic counselors and medical practitioners. However, genetic counselors were significantly more likely to utilize strategies to build patient rapport and counseling techniques.ConclusionsOur findings provide one of the earliest reports on how breast cancer PRSs are communicated to women.Practice implicationsKey messages for communicating PRSs were identified, namely: discussing differences between polygenic and monogenic testing, the multifactorial nature of breast cancer risk, polygenic inheritance and current limitation of PRSs.     

Life activity choices by people with aphasia: repeated interviews and proxy agreement

Background: Person-centered rehabilitation requires that meaningful life activities are identified on a case-by-case basis, but the discovery process can be inaccessible for clients with aphasia. Card-sorting methodology addresses core barriers and help clients communicate their preferences.

Aims: To characterize life activities that people with aphasia want to do, to estimate consistency in selections over time, and to replicate previous findings about the ability of family members and friends to identify their loved ones’ activity preferences.

Methods & Procedures: We administered the Life Interests and Values (LIV) Cards to 26 people with aphasia, asking them which of 95 depicted life activities they wanted to do more in their lives. Half the activity cards were presented again one to ten weeks later. Twenty family members or friends responded as proxies by selecting from a questionnaire with the same items.

Outcomes & Results: Participants with aphasia selected diverse activities, though as a group they identified significantly more activities from the “social” activity category than from the “home and community”, “creative and relaxing”, or “physical” categories. Across the repeated interviews, they selected identical activities on average 78% of the time. Item-to-item agreement between people with aphasia and their proxy responders was significantly lower at 69%.

Conclusions: People with aphasia have diverse activity interests and are reliable informants about their preferences. Because significant others have limited ability to predict these choices, their impressions are inadequate substitutes for direct interviews.     

创伤后应激障碍合并酒精使用障碍的访谈与治疗

本文目的是通过报道病例诊疗全过程,呈现创伤后应激障碍(PTSD)合并酒精使用障碍的临床诊疗思路及治疗方案。咨客,男性,55岁。12岁时目睹母亲自杀的全过程,随后出现恐惧、孤独、失眠、回避谈论创伤相关话题、反复出现与创伤相关的梦境、易激惹、疼痛及酗酒等一系列情绪、认知、躯体及行为改变,并持续至今。社会功能明显受损,近1年和妻子离婚后症状加重而前来咨询。经过本次咨询,被诊断为PTSD合并酒精使用障碍。建议采用生物-心理-社会的综合干预方法,鼓励咨客进行规律运动,使用选择性5-羟色胺和去甲肾上腺素再摄取抑制剂(SNRI)及第二代抗精神病药物改善情绪、缓解疼痛;心理治疗方面,推荐延迟暴露疗法和认知调整;社会资源方面,在症状缓解后,鼓励咨客积极寻找工作,创造挽回其前妻的可能性。     

Newborn screening for CF in France: An exemplary national experience

Newborn screening (NBS) for cystic fibrosis (CF) was implemented throughout France since 2002, with a 3-tiered strategy consisting in an immunoreactive trypsinogen (IRT) measurement at day-3, a search for the most common mutations responsible for CF when the IRT value is above the cut-off level, and, if necessary, a safetynet retesting of IRT at day-21. Coordination and follow-up are ensured at the national level and NBS is carried out through a regional organization involving NBS centers, biochemical and molecular genetics laboratories. Sweat testing and comprehensive mutation gene analysis are then performed according to a defined algorithm. Between 2002 and 2014, screening for the 30 most common mutations identified 87% of the alleles and comprehensive mutation gene analysis performed when applicable identified more than 300 additional mutations and resulted in a detection rate of 99.8% of the mutated alleles. Program surveillance ensured at a national level allowed to carry out adaptation of cut-off levels and removal of the p.Arg117His mutation. Thanks to these modifications, the performance of the French NBS program for CF meets the European guideline standards regarding positive predictive values, sensitivity and time to initial visit at the CF center, thus making the strategy effective.© 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.