Familial Mitochondrial Encephalomyopathy with Stroke-like Episodes and Episodic Disturbances of Consciousness: A Study of Pedigree Including Three Generations with Multisystemic Abnormalities

Abstract: We report here two cases in a family with pleomorphic clinical features which include mitochondrial myopathy, encephalopathy, stroke-like episodes, episodic disturbances of consciousness and other multisystemic abnormalities. The other signs observed in multisystemic abnormalities were ophthalmoplegia, short stature, diabetes mellitus, diabetes insipidus, renal dysfunction, optic atrophy, retinal degeneration, impairment of hearing and mental retardation or deterioration. A symptomatological variation was observed in cases in the same family. It is suggested that these widely varying symptoms may be expressions caused by a common biochemical defect which involves different tissuesin different individuals in the family. The syndromes observed in the present cases were compared with other possibly-related mitochondrial encephalomyopathies.     

Total knee arthroplasty of the stiff knee: three hundred and four cases

Purpose

The purpose of this study was to analyse the results of total knee arthroplasty (TKA) in stiff knees (flexion ≤90° and/or flexion contracture ≥20°). Our hypothesis was that despite having poorer results than those obtained in a “standard” population and a high rate of complications, TKA was a satisfactory treatment in patients with osteoarthritis of the knee associated with significant stiffness.

Methods

Three hundred and four consecutive primary HLS TKAs (Tornier), whose data were prospectively collected between October 1987 and October 2012, were retrospectively analysed at a mean of 60 months (range, 12–239) postoperatively. Two groups, those with a “flexion contracture” and those with a “flexion deficit”, were assessed for postoperative range of motion (as integrated to the Knee Society score [KSS]), physical activity level and patient satisfaction.

Results

At the latest follow-up, range of motion was significantly improved, as was the KSS. Ninety-four percent of patients were satisfied or very satisfied, and activity levels were increased after surgery. The complication rate, however, was high in patients with a preoperative flexion deficit (17 %). Pain and residual stiffness were the most common complications.

Conclusion

TKA provides satisfactory results in patients with knee osteoarthritis associated with significant pre-operative stiffness. The surgical plan should be adapted to anticipate complications, which are particularly frequent in the presence of a flexion deficit.     

Sending NHS Patients for Operations Abroad: Is the Holiday Over?

INTRODUCTION

The UK Department of Health, in its attempt to help NHS trusts reduce long elective waiting lists, set up the overseas commissioning scheme in 2002. This allowed hospitals to send their patients abroad for their surgery. In theory, this was a win-win situation, where pressures upon surgeons were reduced, and trusts could reach UK Government targets and avoid breaches. At our hospital, a significant number of patients, who had undergone a total joint replacement abroad, were discharged after only one postoperative review and often had very little physiotherapy. A few presented to our clinic with more serious problems.

PATIENTS AND METHODS

This is a retrospective review of two matched groups of patients (22 each), all of whom underwent a total knee replacement in 2003. The first group (abroad, Belgium) included 10 males and 12 females with a mean age of 74.5 years and a mean follow-up of 37 months. The second group (local institution) included 10 males and 12 females with a mean age of 71.4 years and a mean follow-up of 34 months. All patients were evaluated using the Oxford Knee Score (OKS), Knee Society Score (KSS), and SF-12 systems.

RESULTS

OKS and KSS were similar in the two groups. However, SF-12 figures revealed a statistically significant difference in both the physical (PCS) and mental components (MCS). Belgium group – mean PCS 40, mean MCS 48: local group – mean PCS 47, mean MCS 57; P < 0.05.

CONCLUSIONS

The results demonstrate that, although the majority of patients operated upon abroad got comparable functional results to patients operated locally, they often felt dissatisfied with the overall experience of travelling for their operation. Furthermore, the issues of ‘patient ownership’ and long-term follow-up need to be fully addressed in order to safeguard the high standard of care we should offer our patients.     

2019 HRS expert consensus statement on evaluation,risk stratification,and management of arrhythmogenic cardiomyopathy

Arrhythmogenic cardiomyopathy (ACM) is an arrhythmogenic disorder of the myocardium not secondary to ischemic, hypertensive, or valvular heart disease. ACM incorporates a broad spectrum of genetic, systemic, infectious, and inflammatory disorders. This designation includes, but is not limited to, arrhythmogenic right/left ventricular cardiomyopathy, cardiac amyloidosis, sarcoidosis, Chagas disease, and left ventricular noncompaction. The ACM phenotype overlaps with other cardiomyopathies, particularly dilated cardiomyopathy with arrhythmia presentation that may be associated with ventricular dilatation and/or impaired systolic function. This expert consensus statement provides the clinician with guidance on evaluation and management of ACM and includes clinically relevant information on genetics and disease mechanisms. PICO questions were utilized to evaluate contemporary evidence and provide clinical guidance related to exercise in arrhythmogenic right ventricular cardiomyopathy. Recommendations were developed and approved by an expert writing group, after a systematic literature search with evidence tables, and discussion of their own clinical experience, to present the current knowledge in the field. Each recommendation is presented using the Class of Recommendation and Level of Evidence system formulated by the American College of Cardiology and the American Heart Association and is accompanied by references and explanatory text to provide essential context. The ongoing recognition of the genetic basis of ACM provides the opportunity to examine the diverse triggers and potential common pathway for the development of disease and arrhythmia.     

Neurobehavioral Dynamics Following Chronic Sleep Restriction: Dose-Response Effects of One Night for Recovery

Objective:

Establish the dose-response relationship between increasing sleep durations in a single night and recovery of neurobehavioral functions following chronic sleep restriction.

Design:

Intent-to-treat design in which subjects were randomized to 1 of 6 recovery sleep doses (0, 2, 4, 6, 8, or 10 h TIB) for 1 night following 5 nights of sleep restriction to 4 h TIB.

Setting:

Twelve consecutive days in a controlled laboratory environment.

Participants:

N = 159 healthy adults (aged 22-45 y), median = 29 y).

Interventions:

Following a week of home monitoring with actigraphy and 2 baseline nights of 10 h TIB, subjects were randomized to either sleep restriction to 4 h TIB per night for 5 nights followed by randomization to 1 of 6 nocturnal acute recovery sleep conditions (N = 142), or to a control condition involving 10 h TIB on all nights (N = 17).

Measurements and Results:

Primary neurobehavioral outcomes included lapses on the Psychomotor Vigilance Test (PVT), subjective sleepiness from the Karolinska Sleepiness Scale (KSS), and physiological sleepiness from a modified Maintenance of Wakefulness Test (MWT). Secondary outcomes included psychomotor and cognitive speed as measured by PVT fastest RTs and number correct on the Digit Symbol Substitution Task (DSST), respectively, and subjective fatigue from the Profile of Mood States (POMS). The dynamics of neurobehavioral outcomes following acute recovery sleep were statistically modeled across the 0 h-10 h recovery sleep doses. While TST, stage 2, REM sleep and NREM slow wave energy (SWE) increased linearly across recovery sleep doses, best-fitting neurobehavioral recovery functions were exponential across recovery sleep doses for PVT and KSS outcomes, and linear for the MWT. Analyses based on return to baseline and on estimated intersection with control condition means revealed recovery was incomplete at the 10 h TIB (8.96 h TST) for PVT performance, KSS sleepiness, and POMS fatigue. Both TST and SWE were elevated above baseline at the maximum recovery dose of 10 h TIB.

Conclusions:

Neurobehavioral deficits induced by 5 nights of sleep restricted to 4 h improved monotonically as acute recovery sleep dose increased, but some deficits remained after 10 h TIB for recovery. Complete recovery from such sleep restriction may require a longer sleep period during 1 night, and/or multiple nights of recovery sleep. It appears that acute recovery from chronic sleep restriction occurs as a result of elevated sleep pressure evident in both increased SWE and TST.

Citation:

Banks S; Van Dongen HPA; Maislin G; Dinges DF. Neurobehavioral dynamics following chronic sleep restriction: dose-response effects of one night for recovery. SLEEP 2010;33(8):1013–1026.     

Mood impairment is stronger in young than in older adults after sleep deprivation

Sleep deprivation commonly impairs affective regulation and causes worse mood. However, the majority of previous research concerns young adults. Because susceptibility to sleep deprivation and emotion regulation change distinctively across adult age, we tested here the hypothesis that the effect of sleep deprivation on mood is stronger in young than in older adults. In an experimental design, young (18–30 years) and older adults (60–72 years) participated in either a sleep control (young, n = 63; older, n = 47) or a total sleep deprivation condition (young, n = 61; older, n = 47). Sleepiness, mood and common symptoms of sleep deprivation were measured using established questionnaires and ratings. Sleep‐deprived participants felt more sleepy, stressed and cold, and reported lower vigour and positive affect, regardless of age. All the other outcome measures (negative affect, depression, confusion, tension, anger, fatigue, total mood disturbance, hunger, cognitive attenuation, irritability) showed a weaker response to sleep deprivation in the older group, as indicated by age*sleep deprivation interactions (ps < 0.05). The results show that older adults are emotionally less affected by sleep deprivation than young adults. This tolerance was mainly related to an attenuated increase in negative mood. This could possibly be related to the well‐known positivity effect, which suggests that older adults prioritize regulating their emotions to optimize well‐being. The results also highlight that caution is warranted when generalizing results from sleep deprivation studies across the adult lifespan.     

Bone Marrow Edema Syndrome of the Medial Femoral Condyle Treated With Extracorporeal Shock Wave Therapy: A Clinical and MRI Retrospective Comparative Study

Objective

To determine the validity of extracorporeal shock wave therapy (ESWT) in the treatment of bone marrow edema (BME) of the medial condyle of the knee.

High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart

Kearns-Sayre syndrome (KSS) is a sporadic multisystem mitochondrial disorder characterized by progressive external ophthalmoplegia, pigmentary retinopathy, onset before age 20, and severe cardiac conduction defects that can lead to death. KSS patients harbor partial deletions of mitochondrial DNA (-mtDNA), sometimes associated with the corresponding mtDNA duplication (dup-mtDNA). As reports on the distribution of dup-mtDNAs among KSS tissues are scarce, we searched for the presence of dup-mtDNAs in different autopsy tissues of two such patients, one of whom carried the so-called “common deletion.” Using a newly developed long polymerase chain reaction (PCR) protocol in conjunction with Southern blot analyses, we found dup-mtDNAs in most of the examined tissues from both patients. The proportion of dup-mtDNA in these tissues was much lower than the proportion of -mtDNA, with one notable exception: in both patients, we found an unusually high level of dup-mtDNA in the heart. These data suggest that dup-mtDNAs may be more stable in heart tissue of KSS patients than in other long-lived postmitotic tissues. Am. J. Med. Genet. 71:443–452, 1997. © 1997 Wiley-Liss, Inc.     

Correlation Study Between KSS,WOMAC and SF-36 Scores in Patients Undergoing Total Knee Arthroplasty in a Spanish Speaking Population

The aim of this study was to determine whether it is necessary to use the KSS, WOMAC and SF-36 scales in a Spanish speaking population. These 3 questionnaires were administered to 1000 consecutive patients in the TKA preoperative period. Pearson's correlation coefficient and coefficient of determination were obtained. 196 patients were excluded. A poor correlation was obtained comparing the different items of the different scores with each other. Only in 3 out of different comparisons performed was a Pearson's correlation r > 0.5 obtained. The worst results were obtained comparing the two knee specific tests (SF-36 vs WOMAC) and the best ones comparing SF-36 and WOMAC scores. Based on these results, the use of the three tests in the TKA preoperative period is recommended in a Spanish speaking population.     

全膝关节置换术后远程自助-互助式功能评估系统

目的 研发一种基于膝关节协会评分(knee society score, KSS)的远程自助-互助式功能评估系统,并验证其对膝关节置换(total knee arthroplasty,TKA)术后患者的有效性。 方法 选取 10 名接受 TKA 手术患者,利用功能评估系统记录其术前以及术后当天(0 d)、4 d 和 30 d 的功能情况。 系统自动计算患者的数据,包括 KSS 得分、屈曲总范围、屈曲挛缩、伸直迟滞、膝关节对线、疼痛和膝关节稳定性。 结果 比较医生凭借经验进行人工 KSS 评分结果与系统评估的 KSS 评分结果发现,二者评分差异无统计学意义,存在一致性。 结论 远程自助-互助式功能评估系统所采集的 KSS 分数与临床医生测评结果一致,该系统为 TKA 术后患者居家评估和远程术后康复指导提供了一种可靠、便捷的方法。