POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria

Mutations in POLG account for one of the most frequent nuclear encoded causes of mitochondrial disorders to date. Individuals harboring POLG mutations exhibit fairly heterogeneous clinical presentations leading to increasing difficulties in classifying these patients into defined clinical phenotypes. This study aims to investigate the molecular basis of a mitochondrial cytopathy in a patient with 3-methylglutaconic aciduria and to expand the clinical phenotype associated with POLG mutations. Clinical, molecular and genetic analyses as well as neurophysiological examinations were carried out for a 23-year-old woman of mixed Caucasian and Latin American ancestry with a history of cataracts diagnosed at age 1 year, she had onset of distal muscle weakness at age 2 years progressing to atrophy and ovarian dysgenesis at puberty. The patient was found to have 3-methylglutaconic acid with normal 3 hydroxyisovaleric acid on urine organic acid analysis. POLG sequencing was done and a heterozygous variant, c.2851T>A (p.Y951N) was found which is predicted to be deleterious. There are limited reports of POLG mutations in individuals with 3-methylglutaconic aciduria. This case report of a young woman with a heterozygous mutation in POLG, presenting with muscle weakness and atrophy at a young age aims to aid clinicians in similar challenging diagnostic situations as well as enhances our understanding of POLG-related disease phenotypes.     

儿童支原体肺炎482例的临床症状及诊治分析

目的：分析儿童支原体肺炎的临床特点、影像学表现与治疗手段。方法：回顾性分析2001年1月-2012年1月在我院住院的482例被确诊为支原体肺炎患儿的临床病历资料,包括各种检测结果、临床表现及治疗转归。结果：儿童支原体肺炎主要的临床症状为咳嗽及发热等;婴幼儿通常还伴有气短喘憋,听诊可闻及痰呜音。影像学特征呈现多样性,斑片状阴影多见于婴幼儿,节段性、大片状阴影多见于学龄儿童。应用阿奇霉素联合激素治疗可获得很好的临床疗效。结论：儿童支原体肺炎具有临床表现和影像学表现不相符的特点,其影像学表现缺乏特异性。早期规范应用大环内酯类药物治疗,可有效缓解临床症状,对防止复发具有非常重要的临床意义。     

Fine needle aspiration cytology of well-differentiated papillary peritoneal mesothelioma. Report of a case

The fine needle aspiration cytologic findings in a well-differentiated multifocal papillary peritoneal mesothelioma in a young man presenting with abdominal pain and mass are described. The patient is alive and well 50 months after the onset of symptomatology. The cytologic and histologic appearance as well as the clinical course of the patient point to a benign multifocal mesothelioma.     

Schizotaxie, schizotypie, personnalité schizotypique et vulnérabilité à la schizophrénie

Many similitudes exist between Schizotypal Personality Disorder (SPD) and schizophrenia as shown by clinical (SPD could be a mild form of schizophrenia), epidemiological, neuropsychological, electrophysiological, and neurobiological data. These similitudes indicate that SPD or only some SPD traits can be interesting vulnerability markers, which can define high clinical or psychometric risk subjects. In fact, SPD could be a remarkable instrument for the comprehension of aetiopathological processes implicated in schizophrenia, even if genetic or familial risk for schizophrenia is absent (first-degree related subject of patient with schizophrenia). In this paper, we reviewed major studies about historical, clinical, epidemiological, neuropsychological, electrophysiological, and neurobiological data on SPD.     

Unusual Tachycardia Association In A patient Without Structural Heart Disease

We report an unusual association of persistent atrial flutter and bundle branch re-entrant ventricular tachycardia in a young patient without structural heart disease. Atrial flutter masked the infra-Hisian conduction disease, was fundamentally dependent on a long PR interval, and could be a possible trigger of ventricular tachycardia.     

Risk Stratification in Young Patients With Channelopathies

Identifying the young patient at risk of malignant arrhythmias and sudden cardiac death remains a challenge. It is increasingly recognised that sudden death, syncope and aborted cardiac arrest at a young age in patients with a structurally normal heart may be the result of various ion channel disorders - the channelopathies. The approach to risk stratification involves a combination of the clinical presentation, taken in conjunction with the family history, genetic testing, invasive electrophysiological studies or other provocative tests where appropriate and feasible. A logical approach to risk stratification in some of the commoner channelopathies seen in paediatric practice is presented.     

Coxsackie B virus infection

A case of a 27-year patient with a clinical syndrome of Coxsackie B viral infection is presented. The symptoms included pleurodynia, myocarditis and the acute gastritis. The diagnosis was confirmed with serological tests which showed high titre of antibodies neutralizing Coxsackie B3. The symptoms of myocardial infarction dominated in both clinical course and autopsy. The authors suggest that serological tests specific for Coxsackie B infection should be performed in the young patients with the symptoms of myocardial infarction.     

Essential thrombocythaemia as cause of myocardial infarction

Abnormalities in the number and function of platelets may contribute to thromboembolic complications in patients with essential thrombocythaemia (ET). Rarely this can lead to an acute myocardial ischaemic syndrome. We describe a young patient with a myocardial infarction, in whom ET was found as the probable cause. We discuss the clinical presentation of ET and the therapeutic possibilities.     

Nestling competition,rather than supernormal stimulus,explains the success of parasitic brown-headed cowbird chicks in yellow warbler nests

Interspecific parasitic chicks are usually fed more than the smaller host young with whom they share the nest. This could be due to parasitic chicks having evolved exaggerated features that are preferred by the adults to the features present in their own young (the supernormal stimulus hypothesis). Alternatively, the success of parasitic chicks could be due to them being better competitors. We tested these hypotheses by studying the interaction between brown-headed cowbird chicks, Molothrus ater, and a common small host, the yellow warbler, Dendroica petechia. Parasitic chicks begged more intensively than the host''s young and received most of the feeds. The relative height reached by the begging chicks of both species was the most important variable in determining their feeding success. Being larger and begging intensively, brown-headed cowbirds were better able to reach higher than the host''s young, but at equal heights parasitic chicks were no better than the host''s young at gaining feeds. It is suggested that the success of the brown-headed cowbirds when parasitizing yellow warblers is due to them physically out-competing the smaller young of their hosts, and not to them evoking a stronger response from the hosts by being a supernormal stimulus.     

Young plasma reverses age‐dependent alterations in hepatic function through the restoration of autophagy

Recent studies showing the therapeutic effect of young blood on aging‐associated deterioration of organs point to young blood as the solution for clinical problems related to old age. Given that defective autophagy has been implicated in aging and aging‐associated organ injuries, this study was designed to determine the effect of young blood on aging‐induced alterations in hepatic function and underlying mechanisms, with a focus on autophagy. Aged rats (22 months) were treated with pooled plasma (1 ml, intravenously) collected from young (3 months) or aged rats three times per week for 4 weeks, and 3‐methyladenine or wortmannin was used to inhibit young blood‐induced autophagy. Aging was associated with elevated levels of alanine transaminase and aspartate aminotransferase, lipofuscin accumulation, steatosis, fibrosis, and defective liver regeneration after partial hepatectomy, which were significantly attenuated by young plasma injections. Young plasma could also restore aging‐impaired autophagy activity. Inhibition of the young plasma‐restored autophagic activity abrogated the beneficial effect of young plasma against hepatic injury with aging. In vitro, young serum could protect old hepatocytes from senescence, and the antisenescence effect of young serum was abrogated by 3‐methyladenine, wortmannin, or small interfering RNA to autophagy‐related protein 7. Collectively, our data indicate that young plasma could ameliorate age‐dependent alterations in hepatic function partially via the restoration of autophagy.     

Concordance between Patient Self-Reports and Claims Data on Clinical Diagnoses,Medication Use,and Health System Utilization in Taiwan

Purpose

The aim of this study was to evaluate the concordance between claims records in the National Health Insurance Research Database and patient self-reports on clinical diagnoses, medication use, and health system utilization.

Methods

In this study, we used the data of 15,574 participants collected from the 2005 Taiwan National Health Interview Survey. We assessed positive agreement, negative agreement, and Cohen''s kappa statistics to examine the concordance between claims records and patient self-reports.

Results

Kappa values were 0.43, 0.64, and 0.61 for clinical diagnoses, medication use, and health system utilization, respectively. Using a strict algorithm to identify the clinical diagnoses recorded in claims records could improve the negative agreement; however, the effect on positive agreement and kappa was diverse across various conditions.

Conclusion

We found that the overall concordance between claims records in the National Health Insurance Research Database and patient self-reports in the Taiwan National Health Interview Survey was moderate for clinical diagnosis and substantial for both medication use and health system utilization.     

Medical physics in radiotherapy: The importance of preserving clinical responsibilities and expanding the profession's role in research,education, and quality control

Medical physicists have long had an integral role in radiotherapy. In recent decades, medical physicists have slowly but surely stepped back from direct clinical responsibilities in planning radiotherapy treatments while medical dosimetrists have assumed more responsibility. In this article, I argue against this gradual withdrawal from routine therapy planning. It is essential that physicists be involved, at least to some extent, in treatment planning and clinical dosimetry for each and every patient; otherwise, physicists can no longer be considered clinical specialists. More importantly, this withdrawal could negatively impact treatment quality and patient safety. Medical physicists must have a sound understanding of human anatomy and physiology in order to be competent partners to radiation oncologists. In addition, they must possess a thorough knowledge of the physics of radiation as it interacts with body tissues, and also understand the limitations of the algorithms used in radiotherapy. Medical physicists should also take the lead in evaluating emerging challenges in quality and safety of radiotherapy. In this sense, the input of physicists in clinical audits and risk assessment is crucial. The way forward is to proactively take the necessary steps to maintain and advance our important role in clinical medicine.     

多学科协作诊疗模式在青年医师培养中的运用

通过对多学科协作(Multidisciplinary Team,MDT)诊疗模式应用于青年医师培养的效果观察,结果表明,基于临床路径的MDT管理集合了临床规范性、资源整合性、患者中心性、专业互补性等特性,通过形式和内容的改进,将原以患者诊治为目的的管理手段赋予教学性质,以其为平台与抓手,并作为青年医师培养的一项重要手段,可切实提升医师综合能力。

     

The use of a temporal osteoperiosteal flap for the reconstruction of malar hypoplasia in Treacher Collins syndrome

The clinical use of a temporal periosteal bone flap for the reconstruction of a malar bone in a patient with the Treacher Collins syndrome is presented. The temporal muscle functions as an axial carrier of the periosteum that induces osteogenesis in young children, whereas the bone segments may serve as a nucleus for further bone formation from the periosteum. Correction of the eyelid coloboma was obtained by the rotation and advancement of a temporopalpebral flap.     

Aortic valve replacement in a patient with severe hemophilia

Hemophilia A is an inherited bleeding disorder characterized by factor VIII deficiency. The basis for insufficient hemostasis lies within inadequate amplification of factor Xa production with the undersupplied factor VIII. We report on a young patient with critical aortic stenosis bearing all the clinical stigmata of severe hemophilia, in whom aortic valve replacement was performed with a tissue valve in order to avoid the need for long term anticoagulation.     

Thyroid function, cytokine and IGF-IGFBP interactions in cystic fibrosis patients

BACKGROUND/AIMS: Thyroid function impairment has been sporadically described in cystic fibrosis (CF) and ascribed to iodine overload or selenite deficiency. In this study we evaluated thyroid function in CF in order to verify these data and to evaluate if the modifications were related to serum levels of markers of inflammation and growth factors that we have previously shown to be altered in CF. METHODS: Seventeen young adult CF patients and 18 age-matched controls were enrolled in this study. The diagnosis of CF was confirmed by genetic analysis. None was treated with pulmonary expectorants. Serum IL-1beta, IL-6, TNF-alpha, IGF-I, IGF-II, IGFBP-2, IGFBP-3, TSH, fT3 and fT4 were measured using standard commercial kits. RESULTS: TSH, fT3 and fT4 serum levels were similar in CF patients and controls. Within the patient group, thyroid function did not vary in relation to C-reactive protein serum levels, respiratory function and clinical conditions (Shwachman score). No correlation was found with any growth factor or cytokine analyzed. CONCLUSIONS: At variance with the few previously published data, we did not detect any difference in thyroid function in patients with CF compared with normal healthy subjects. This could be due to the fact that no iodine overload or selenite deficiency was present in our patients. Thyroid function seemed independent of markers of inflammation and IGF-IGFBP serum levels.     

单节段固定关节突峡部融合治疗年轻人轻度峡部裂腰椎滑脱的临床观察

目的:介绍和分析单节段固定关节突峡部融合治疗年轻人轻度峡部裂腰椎滑脱的临床应用。方法:对2010.01-2016.01来我院就诊,诊断为峡部裂伴轻度腰椎滑脱的共计46例青年患者(30岁),采用单节段固定结合关节突峡部融合的方法进行治疗。分析包括患者术前与术后3月、6月及12月VAS(Visual Analogue Scale)疼痛评分,Lehmann腰椎功能评分等功能恢复指标的比较及融合率、并发症等临床观察指标的总结。结果:所有患者均至少接受12个月的术后随访,患者在术后(3,6,12月)的VAS评分及Macnab评分较术前均有显著改善和提高(P0.05)。影像资料显示:未出现不融合现象。1例患者出现皮肤浅层感染,处理后好转,余无明显并发症出现。结论:对于年轻人的轻度峡部裂伴腰椎滑脱患者,使用单节段固定结合关节突峡部融合的方法具有较好的疗效,且对后期影响较小。     

Infective endocarditis caused by Arcanobacterium haemolyticum: a case report

Typhoid fever is a very common infectious disease, particularly in developing countries such as Sri Lanka. Although multiple organs are known to be affected by the disease, hepatic involvement could be considered the most important as studies have showed that it is associated with a higher relapse rate. We report a young patient who presented with fever and jaundice and found to have cholestatic hepatitis secondary to typhoid fever.