HBB: c.316-125A>G and HBB: c.316-42delC: Phenotypic Evaluations of Two Rare Changes in the Second Intron of the HBB Gene

We report two very rare changes in the second intron of the HBB gene, a substitution at nucleotide (nt) 726 [IVS-II-726 (A>G) (β⁺), NM_000518, HBB: c.316-125A>G] and a deletion of a cytosine at nt 809 [IVS-II-809 (–C) (β), NM_000518, HBB: c.316-42delC] identified during the screening program for hemoglobinopathies in the resident Sicilian population. The purpose of this study was to evaluate the clinical implication of these rare changes, particularly in coinheritance with known mutations in the globin clusters, in order to conduct an appropriate genetic counseling for at-risk couples. Molecular analysis detected the first rare nt substitution in two cases in simple heterozygosity and in two cases in association with other known mutations on globin genes, while the deletion was identified in a pregnant woman, carrier of β-thal, and in her fetus at prenatal diagnosis (PND) for hemoglobinopathies. The present study emphasizes the importance of sharing the observed changes in the globin gene cluster, especially in the case of new or rare undefined mutations, in order to facilitate the determination of their phenotypic expression and possible interactions with known molecular defects.     

延经丸对于绝经后骨质疏松症治疗的探讨

绝经后骨质疏松症的诱发因素很多,主要有种族及遗传因素、绝经后雌激素降低、营养因素、运动因素、不良生活习惯等,但其中最为主要的是绝经后雌激素降低这个因素。我的导师牟慧琴教授根据多年临床实践经验,研究出了一组经验方—延经丸,不但能调节患者体内的内分泌激素和性激素,镇静催眠的作用,而且对于防治女性绝经后骨质疏松症效果十分显著。本文重点从基础理论、组方分析、预防与治疗等方面进行探讨。     

Relationship among Cervical Spine Degeneration,Head and Neck postures,and Myofascial Pain in Masticatory and Cervical Muscles in Elderly with Temporomandibular Disorder

ObjectivesThe aim of the study was to verify associations among degenerative changes in the cervical spine, head and neck postures, and myofascial pain in the craniocervical musculature in elderly with myofascial temporomandibular disorders (TMDs).MethodsA total of 120 participants (mean age, 68.3 ± 7.5 years) were included: 45 participants had no signs of orofacial or cervical pain, 26 participants had myofascial TMD only (mTMD), and 49 participants had both myofascial TMD and cervical pain (cerTMD). Participants were diagnosed according to the Research Diagnostic Criteria for Temporomandibular Disorders. Cervical spine degeneration and head and neck postures were identified using the lateral cephalogram. Myofascial trigger points (TrPs) were evaluated in the temporalis, masseter, trapezius, sternocleidomastoid, sub-occipitalis, and splenius capitis muscles. Relationships among number of TrPs, head postures, and cervical degeneration were investigated using repeated-measure analysis of variance and Pearson’s correlation coefficient.ResultsThe cerTMD showed higher number of active TrPs in the masticatory and cervical muscles, greater forward head posture, and more severe degenerative changes in the cervical spine than mTMD did. The degenerative changes in each level of the cervical spine had complex interactions with head postures. Cervical degeneration, particularly at level of second to third vertebra appeared to be linked to the development of active TrPs in the masticatory and cervical muscles.ConclusionsThe results of this study demonstrated that degenerative changes in the cervical spine were related to altered head postures and the development of active TrPs in the craniocervical musculature in elderly with myofascial TMD.     

电针穴位刺激结合中药治疗脑梗塞后遗症的临床效果

目的探究电针穴位刺激结合中药治疗脑梗塞后遗症的临床效果。方法将我院收治的80例脑梗塞后遗症患者随机分为对照组和观察组,每组40例。对照组采用补阳还五汤加减治疗,观察组在对照组基础上加用电针穴位刺激治疗。比较两组治疗效果。结果治疗后,两组BDNF、VEGF水平及SIAS评分均升高,HCY水平均下降,且观察组优于对照组(P<0.05)。观察组中医证候治疗总有效率高于对照组(P<0.05)。结论电针穴位刺激结合中药治疗脑梗塞后遗症效果显著,可有效改善患者内环境水平,促进患者整体功能的恢复。     

Focused Cardiac Ultrasonography: Current Applications and Future Directions

Focused cardiac ultrasonography is performed by clinicians at the bedside and is used in time‐sensitive scenarios to evaluate a patient's cardiovascular status when comprehensive echocardiography is not immediately available. This simplified cardiac ultrasonography is often performed by noncardiologists using small, portable devices to augment the physical examination, triage patients, and direct management in both critical care and outpatient settings. However, as the use of focused cardiac ultrasonography continues to expand, careful consideration is required regarding training, scope of practice, impact on patient outcomes, and medicolegal implications. In this review, we examine some of the challenges with rapid uptake of this technique and explore the benefits and potential risk of focused cardiac ultrasonography. We propose possible mechanisms for cross‐specialty collaboration, quality improvement, and oversight.     

Retrospective analysis of clinical outcomes in bilateral cleft lip and palate patients after secondary alveolar bone grafting and premaxilla osteotomy,using a new dento-maxillary scoring system

Evaluation of relevant clinical outcomes in patients with bilateral cleft lip and palate (BCLP) after secondary aveolar bone grafting (SABG) and premaxilla osteotomy (PMO), through the use of a new scoring system.Data were collected retrospectively from all patients with BCLP who were operated on between 2004 and 2014, at the end of follow-up. The treatment protocol consisted of SABG + PMO in patients aged between 9 and 13 years. At the end of follow-up, the following parameters were scored: (un)interrupted dental arch, skeletal sagittal relationship, bone height using the Bergland/Abyholm criteria, and the presence of postoperative fistula. These parameters were combined to produce a dento-maxillary scoring system, giving a final score between 1 and 10. For statistical analysis, the independent t-test was used.Of 55 children, 45 were suitable for analysis. The mean age at time of surgery was 12.0 years (8.9–16.4 yrs), and the mean follow-up time was 11.7 years (5.8–15.8 yrs). The average number of surgeries executed under general anesthesia was 6 (range: 3–11). The average dento-maxillary score in this patient cohort was 7.6 (1–10; median: 8). Among these patients, 31 had an uninterrupted dental arch; the average Bergland/Abyholm score was 2.07; 30 patients exhibited an Angle class I incisor relationship; and, in 38 cases, the oronasal communication was closed after SABG + PMO treatment. A significant effect of fistulas was seen on dento-maxillary score (p = 0.001). Specifically, a significant effect of fistulas was seen on interrupted dental arch (p = 0.002) and on Bergland/Abyholm score (p = 0.037).The proposed dento-maxillary scoring system is a straightforward tool that can be used to describe and analyze the amount of dento-maxillary rehabilitation at the end of the treatment. Persistence of oronasal fistulas in patients with BCLP has a significant impact on interruption of the dental arch, and can influence dental results at the end of the second decade.     

The metabolic syndrome and risk of coronary artery disease in patients with chronic schizophrenia or schizoaffective disorder in a chronic mental institute

The prevalence rate of metabolic syndrome (MS) and coronary artery disease (CAD) has been found to be high in patients with chronic schizophrenia. Current evidence shows that CAD is underdiagnosed in this group. Our study evaluated the prevalence of MS and the risk of CAD in patients with chronic schizophrenia in a chronic care mental hospital in southern Taiwan. We included all patients with the diagnosis of schizophrenia or schizoaffective disorder. We collected all laboratory, physical examination, psychiatric interview, and chart review data. We also evaluated the risk of CAD in these patients using the Framingham point system. There was no significant age difference in the MS prevalence rate in these patients. The young patients with schizophrenia in our study tended to have a higher prevalence of MS than the general population. In addition, female patients had a higher prevalence rate of MS than males. Based on the Framingham point system, we found the 10-year risk of CAD to be higher among the patients with schizophrenia than in the general population. Our study highlights the importance of the high risk of MS in both younger and older patients with schizophrenia, without a significant relationship to the use of antipsychotics. More complete cohort studies are needed to confirm these findings. Psychiatrists may want to establish more specific and detailed clinical guidelines for patients with chronic schizophrenia with comorbid physical diseases, especially MS and CAD.     

耳穴贴压用于预防乳腺纤维瘤摘除术后呕吐疗效观察

目的评价耳穴贴压预防喉罩辅助通气全凭静脉麻醉下乳腺纤维瘤摘除术患者术后呕吐的效果。方法选择年龄40岁以下、ASA评分Ⅰ级、乳腺纤维瘤摘除术患者80例,随机分为A组和B组,每组40例。A组在麻醉复苏阶段患者唤醒后于耳廓相应穴位寻找敏感点,采用耳穴贴压治疗。B组不予任何处理。术后不同时间随访观察两组患者恶心、呕吐次数及BP、HR、SpO2等生命体征变化。结果两组患者术后4 h和24 h BP、HR、SpO2比较,差异均无统计学意义(P0.05);A组患者术后恶心、呕吐发生率低于B组,两组比较差异具有统计学意义(P0.01)。结论耳穴贴压具有良好的预防全凭静脉麻醉下乳腺纤维瘤摘除术患者术后恶心、呕吐的作用,且无明显不良反应。