Arthrogryposis multiplex congenital - multidisciplinary care - including own experience.

Arthrogryposis multiplex congenital (AMC) is a heterogeneous disorder, characterized by nonprogressive multiple intra-articular contractures, which can be recognized at birth. The prevalence in Europe is estimated at about 1 per 12,000. Etiopathogenesis of arthrogryposis is multifactorial. Symptoms of some forms of arthrogryposis can be found in the clinical presentation of selected genetic disorders, e.g. Pena Shokeir syndrome. Arthrogryposis can also result from environmental factors such as medication, trauma or chronic illness during pregnancy, as well as from oligohydramnios or abnormal structure of the uterus. In this particular disorder prenatal diagnosis is crucial, because it determines the level of hospital reference during the delivery of the affected child. The highest reference degree hospital is preferential, with staff prepared for the multidisciplinary approach to the treatment of the newborn. The key to success is rehabilitation treatment and it should be initiated as soon as possible. In a substantial number of cases, physical therapy can replace invasive corrective surgery, but even when orthopedic treatment is required, it should always be preceded and followed by rehabilitation.

Isozymes of AMP-Deaminase in Muscles Myasthenia Gravis Patients.

Similar symptoms observed in Myasthenia gravis (MG) can be also detected in the case of skeletal muscle AMP-deaminase deficiency. We compared the activity and expression of AMP-deaminase (AMPD) products in skeletal muscles of MG patients and MG-free individuals. The activity of AMP-deaminase in the muscles of MG patients was significantly higher than in the controls and was 2.05 µmol/min/mg protein (±0.31). The two groups differ in level of AMPD product expression. Furthermore in MG-group molecular size of isoform AMPD1 is 90 kDa in contrast to MG-free group where is present 70 kDa isoform of enzyme. The data suggests that the disturbances in transmission of neuronal signaling, taking place in the skeletal muscles of MG patients, may also change energetic metabolism of the affected muscles by changing molecular mass of isoform.

Mountain climbing of the grown-up patient with non-corrected congenital heart defect.

Congenital heart defects (CHD) are the cause of reduced physical performance. The presence of congenital abnormalities in the heart of grown-up patients contributes to excessive hypo-kinesia. We present endurance parameters and a personalized comprehensive cardiac rehabilitation program before an extreme mountain climbing of a 27-year-old patient with an uncorrected ventricular septal defect (VSD). A 26-year-old female patient with an uncorrected congenital VSD was admitted to the department of cardiac rehabilitation before the planned high-mountain expedition. Professional preparation and assessment of actual exercise capacity was performed before scheduled extreme climbing. We conclude that physical activity associated with a heavy load in people with uncorrected CHD who have not developed pulmonary hypertension and reverse right-to-left flow seems to be safe, while participation of grown-up patients with congenital heart disease (GUCH) in extreme mountain climbing requires special preparation, individually designed endurance training and education program, conducted by the team of professionals in specialist centers.

Early diagnosis and treatment of children with skull deformations. The challenge of modern medicine.

Skull deformations affect approximately 45% of newborn babies, the most common ones being: plagiocephaly, brachycephaly and scaphocephaly. The first symptoms can be observed 4 to 8 weeks after birth. The causes of skull deformation in newborns can be divided into congenital ones and those acquired after birth. An increase in the incidence of acquired head deformations can be attributed to the "BACK TO SLEEP" campaign, carried out in 1992 by the American Academy of Pediatrics (AAP), which was aimed to reduce the frequency of sudden infant death syndrome (SIDS) by placing babies to sleep in the supine position. By the year 2000, the number of SIDS incidents had been significantly lowered, however, it seems that this improvement was achieved at the cost of an increased number of head deformations [3, 4, 5, 34]. Skull deformations, if left untreated, may have consequences for the future. Plagiocephalic deformations may be associated with delayed intellectual and motor development [2]. Early recognition of the condition and the appropriate classification of each skull deformation are crucial for the success of the treatment [8]. Treatment choice depends on the etiology of the problem and its severity, as well as on the age of the infant. Available options include training for the parents/caregivers, physical therapy, custom head orthosis and surgical intervention.

Fibromyalgia Syndrome - a multidisciplinary approach.

According to American College of Rheumatology fibromyalgia syndrome (FMS) is a common health problem characterized by widespread pain and tenderness. The pain and tenderness, although chronic, present a tendency to fluctuate both in intensity and location around the body. Patients with FMS experience fatigue and often have sleep disorders. It is estimated that FMS affects two to four percent of the general population. It is most common in women, though it can also occur in men. FMS most often first occur in the middle adulthood, but it can start as early as in the teen years or in the old age. The causes of FMS are unclear. Various infectious agents have recently been linked with the development of FMS. Some genes are potentially linked with an increased risk of developing FMS and some other health problems, which are common comorbidities to FMS. It is the genes that determine individual sensitivity and reaction to pain, quality of the antinociceptive system and complex biochemistry of pain sensation. Diagnosis and therapy may be complex and require cooperation of many specialists. Rheumatologists often make the diagnosis and differentiate FMS with other disorders from the rheumatoid group. FMS patients may also require help from the Psychiatric Clinic (Out-Patients Clinic) due to accompanying mental problems. As the pharmacological treatment options are limited and only complex therapy gives relatively good results, the treatment plan should include elements of physical therapy.

Influence of a hybrid form of cardiac rehabilitation on exercise tolerance in coronary artery disease patients with and without diabetes.

BACKGROUND: The effectiveness of stationary and ambulatory cardiac rehabilitation of patients with coronary artery disease (CAD) and diabetes has been proven by some authors, but data concerning the effects of hybrid forms of cardiac rehabilitation (HCR) in this population are lacking. A home-based telerehabilitation is a promising form of secondary prevention of cardiovascular diseases in this group of patients. AIM: The objective of the study was to compare the effects of HCR in CAD patients with and without diabetes mellitus (DM). The secondary endpoint was the assessment of CAD risk factors like low exercise capacity and obesity, in both groups of patients. METHODS: This was a retrospective study, which comprised 125 patients with CAD aged 57.31 ± 5.61 years referred for HCR. They were assigned to Group D (with diabetes; n = 37) or Group C (without diabetes; n = 88). HCR was carried out as a comprehensive procedure that included all core components of cardiac rehabilitation according to guidelines. Before and after HCR all patients underwent a symptom-limited exercise test performed according to the Bruce protocol on a treadmill. RESULTS: Before HCR the maximal workload was higher in Group C than in Group D (8.13 ± 2.82 METs vs. 6.77 ± 1.88 METs; p = 0.023), but after HCR the difference was not significant. In both groups an increase in the maximal workload after HCR was observed (Group D: before HCR 6.81 ± 1.91 METs, after HCR 8.30 ± 2.04 METs; p < 0.001; Group C: before HCR 8.31 ± 2.71 METs, after HCR 9.13 ± 2.87 METs; p = 0.001). Resting heart rate, double product, and heart rate recovery 1 (HRR1) declined in both groups. No significant differences in changes in exercise test parameters between both groups' parameters were found. CONCLUSIONS: HCR was effective in patients with DM. The adherence was high. Patients with DM had higher rates of obesity and significantly lower exercise tolerance than patients without DM. Patients from both groups gained similar benefit from HCR in terms of physical capacity, resting heart rate, and heart rate recovery.

Effect of complex cardiac rehabilitation on physical activity and quality of life during long-term follow-up after surgical correction of congenital heart disease.

BACKGROUND: Comprehensive cardiac rehabilitation (CCR) is an important element of the comprehensive management of grown-up congenital heart disease (GUCH) patients after surgical correction of congenital heart disease (CHD) but access to this treatment is still limited. We still lack Polish guidelines on CCR, including controlled training in young adults several years after surgical correction of CHD. AIM: To assess the effect of a CCR program on physical capacity, exercise tolerance, quality of life, and severity of depressive symptoms in GUCH patients long-term after surgical correction of CHD. METHODS: We studied 57 CHD patients (30 females, 27 males, mean age 23 ± 3.4 years) at least 12 months after surgical correction of a ventricular septal defect (VSD) or ostium secundum atrial septal defect (ASD II). All patients were offered a CCR program, and 31 of them participated (rehabilitation group [Reh]) and 26 refused (non-rehabilitated group [NReh]). All patients underwent baseline cardiopulmonary exercise testing (CPET) using a cycloergometer and a ramp protocol with an initial load of 20 W followed by 10 W load increments per minute. Psychological evaluation included the Beck Depression Inventory (BDI) and the Euro QoL 5D questionnaire to evaluate quality of life. Patients were reassessed 30 days after the initial evaluation using the same investigations. RESULTS: During CPET, all patients reached peak exercise intensity at the level of 15-17 in the Borg scale without complications. Resting HR was lower in the Reh group (74 ± 8 bpm) compared to the NReh group (81 ± 14 bpm). During CPET, patients in the Reh group reached significantly higher peak HR and percent maximum HR. Workload increased nonsignificantly (144 W vs. 124 W, p = 0.121), while duration of exercise and peak oxygen consumption was significantly longer in the Reh group compared to the NReh group (14 min vs. 11 min, p = 0.001; and 27.5 mL/kg/min vs. 23 mL/kg/min, p = 0.003, respectively). Patients in the NReh group showed non significantly higher severity of depressive symptoms compared to the Reh group, as evaluated using BDI at 30 days (mean score 4.8 vs. 2.2, respectively, p = 0.59). In contrast, subjectively and objectively rated quality of life was significantly higher in the Reh group compared to the NReh (score 89 vs. 74.4, p < 0.01; and 94 vs. 83, p < 0.01, respectively). CONCLUSIONS: Implementation of a CCR program improves physical capacity, exercise tolerance, and quality of life and reduces depressive symptoms in patients late after surgical correction of CHD. Introduction of such programs seems reasonable as a supplement to the holistic care for GUCH patients.

Efficacy of physiotherapy for urinary incontinence following prostate cancer surgery.

The study enrolled 81 with urinary incontinence following radical prostate-only prostatectomy for prostatic carcinoma. The patients were divided into two groups. The patients in Group I were additionally subdivided into two subgroups with respect to the physiotherapeutic method used. The patients of subgroup IA received a rehabilitation program consisting of three parts. The patients of subgroup IB rehabilitation program consist of two parts. Group II, a control group, had reported for therapy for persistent urinary incontinence following radical prostatectomy but had not entered therapy for personal reasons. For estimating the level of incontinence, a 1-hour and 24-hour urinary pad tests, the miction diary, and incontinence questionnaire were used, and for recording the measurements of pelvic floor muscles tension, the sEMG (surface electromyography) was applied. The therapy duration depended on the level of incontinence and it continued for not longer than 12 months. Superior continence outcomes were obtained in Group I versus Group II and the difference was statistically significant. The odds ratio for regaining continence was greater in the rehabilitated Group I and smaller in the group II without the rehabilitation. A comparison of continence outcomes revealed a statistically significant difference between Subgroups IA versus IB. The physiotherapeutic procedures applied on patients with urine incontinence after prostatectomy, for most of them, proved to be an effective way of acting, which is supported by the obtained results.

Physical activity in patients with grown-up congenital heart defects after comprehensive cardiac rehabilitation.

INTRODUCTION: The group of grown-up patients with congenital heart defects (grown-up congenital heart - GUCH) complains of a number of specific medical and non-medical problems. The presented program of comprehensive cardiac rehabilitation (CCR-GUCH), dedicated to the above mentioned group, can potentially improve the physical activity of GUCH patients. AIM: The aim of the study was to assess the effect of the comprehensive cardiac rehabilitation program on the physical activity of GUCH patients. MATERIAL AND METHODS: The invitation to take part in the CCR-GUCH program was addressed to a group of 57 patients (mean age: 23.7 ± 4.1 years) who had undergone the surgical correction of ventricular septal defects (VSD) or atrial septal defects (ASD) at least 12 months earlier. The patients were divided into two groups: A - patients undergoing rehabilitation, and B - patients who did not participate in the program. The patients were initially examined using functional and stress tests, and the program of comprehensive cardiac rehabilitation was started in group A. After 30 days, the patients from both groups underwent further testing using the same methods as during the initial evaluation. RESULTS: After one month of rehabilitation, the physical activity parameters of patients participating in the CCR-GUCH program (group A) were significantly better than those observed among non-participants (group B). CONCLUSIONS: The introduction of the comprehensive rehabilitation program improves the physical activity and, consequently, the quality of life of GUCH patients. The CCR-GUCH program appears to be a justified supplement to holistic care in the late rehabilitation of patients after the surgical correction of congenital heart defects.

Arthrogryposis in infancy, multidisciplinary approach: case report.

BACKGROUND: Arthrogryposis multiplex congenita is an etiopathogenetically heterogeneous disorder characterised by non-progressive multiple intra-articular contractures, which can be recognised at birth. The frequency is estimated at 1 in 3,000 newborns. Etiopathogenesis of arthrogryposis is multifactorial. CASE PRESENTATION: We report first 26 weeks of life of a boy with severe arthrogryposis. Owing to the integrated rehabilitation approach and orthopaedic treatment a visible improvement in the range of motion as well as the functionality of the child was achieved. This article proposes a cooperation of various specialists: paediatrician, orthopaedist, specialist of medical rehabilitation and physiotherapist. CONCLUSIONS: Rehabilitation of a child with arthrogryposis should be early, comprehensive and multidisciplinary. Corrective treatment of knee and hip joints in infants with arthrogryposis should be preceded by the ultrasound control. There are no reports in the literature on the ultrasound imaging techniques which can be used prior to the planned orthopaedic and rehabilitative treatment in infants with arthrogryposis. The experience of our team indicates that such an approach allows to minimise the diagnostic errors and to maintain an effective treatment without the risk of joint destabilisation.

Exercise capacity and the quality of life late after surgical correction of congenital heart defects.

BACKGROUND: The long-term impact of surgical correction of congenital heart defects (CHD) on exercise capacity and quality of life (QoL) has not been well established. AIM: To evaluate exercise capacity, QoL, physical activity and depression in young adult patients with a history of congenital heart defect surgery (GUCH) for simple left-to-right shunts, and to compare these parameters with those obtained in healthy volunteers. METHODS: The study group consisted of 30 young adults with congenital heart defects (14 males, 16 females), aged 18-36 (mean 24.6) years who underwent corrective cardiac surgery at least 10 years earlier. The control group comprised 30 healthy students (15 males, 15 females), aged 21-28 (mean 24.4) years. We performed cardiopulmonary exercise testing on bicycle ergometer, QoL and physical activity tests, and depression inventory. RESULTS: In young adult GUCH patients the exercise parameters were lower when compared to healthy peers. The Stanford questionnaire showed that physical activity was diminished as well as QoL in EuroQoL5 test. The Beck inventory showed more expressed depression in GUCH group. CONCLUSIONS: The exercise capacity, physical activity and QoL of young adults with a history of surgical treatment of CHD are worse than observed in healthy peers, and the health status does not fulfil the definition of complete recovery.

[The effects of pulmonary rehabilitation on the quality of life in patients with COPD]. / Wplyw rehabilitacji na jakosc zycia u chorych na przewlekla obturacyjna chorobe pluc.

INTRODUCTION: Chronic obstructive pulmonary disease (COPD) is a leading cause of morbidity, hospitalization and disability among lung diseases. Its chronic, progressive nature and acute exacerbations influence the quality and expectancy of life of COPD patients. The pulmonary rehabilitation is a basic non-pharmacological intervention in COPD and its role is increasing in recent years. The goal of this work was to evaluate the impact on quality of life patients undergoing 3 weeks pulmonary rehabilitation program. MATERIAL AND METHODS: 132 patients with COPD were admitted to pulmonary rehabilitation program; 70 completed the 3 weeks long program. Pulmonary function tests, exercise endurance, quality of life (St. George's Respiratory Questionnaire) were measured at baseline, 3 weeks, and 3 months. RESULTS: There was significant improvement in quality of life in St. George's Respiratory Questionnaire and exercise endurance (treadmill) measured at 3 weeks and at 3 months. Parameters of lung function tests did not improved after completion of rehabilitation. CONCLUSIONS: 3 weeks pulmonary rehabilitation program of patients with COPD was effective in improving exercise endurance and the quality of life. The improvement was noted as well at 3 months post rehabilitation.