Vincenzo Maria Saraceni

Natural History and Manifestations of the Hypermobility Type Ehlers-Danlos Syndrome: A Pilot Study on 21 Patients

Hypermobility type Ehlers–Danlos syndrome (HT‐EDS) is a relatively frequent, although commonly misdiagnosed variant of Ehlers–Danlos syndrome, mainly characterized by marked joint instability and mild cutaneous involvement. Chronic pain, asthenia, and gastrointestinal and pelvic dysfunction are characteristic additional manifestations. We report on 21 HT‐EDS patients selected from a group of 40 subjects with suspected mild hereditary connective tissue disorder. General, mucocutaneous, musculoskeletal, cardiovascular, neurologic, gastrointestinal, urogynecological, and ear–nose–throat abnormalities are investigated systematically and tabulated. Six distinct clinical presentations of HT‐EDS are outlined, whose tabulation is a mnemonic for the practicing clinical geneticist in an attempt to diagnose this condition accurately. With detailed clinical records and phenotype comparison among patients of different ages, the natural history of the disorder is defined. Three phases (namely, hypermobility, pain, and stiffness) are delineated based on distinguishing manifestations. A constellation of additional, apparently uncommon abnormalities is also identified, including dolichocolon, dysphonia, and Arnold–Chiari type I malformation. Their further investigation may contribute to an understanding of the pathogenesis of the protean manifestations of HT‐EDS, and a more effective approach to the evaluation and management of affected individuals.

Long-term effects on cortical excitability and motor recovery induced by repeated muscle vibration in chronic stroke patients.

Background. Muscle vibration modifies corticomotor excitability in healthy subjects and reduces muscle tonus in stroke patients. Objective. This study examined whether repeated muscle vibration (rMV) applied over the flexor carpi radialis (FCR) and biceps brachii (BB) can induce long-lasting changes, using transcranial magnetic stimulation (TMS), in patients with chronic stroke. Methods. Thirty hemiparetic patients who offered at least minimal wrist and elbow isometric voluntary contractions were randomly assigned to either an experimental group, which received rMV in addition to physiotherapy (rMV + PT), or a control group that underwent PT alone. The following parameters of the FCR, BB, and extensor digitorum communis (EDC) were measured through TMS before, and 1 hour, 1 week, and 2 weeks after the end of intervention: resting motor threshold (RMT), map area, map volume, short-interval intracortical inhibition (SICI), and intracortical facilitation (ICF). Muscle tonus and motor function were assessed on the same day as TMS. Results. Pre–post analysis revealed a reduction in RMT and an increase in motor map areas occurred in the vibrated muscles only in the rMV + PT group, with an increase in map volumes of all muscles. Moreover, SICI increased in the flexors and decreased in the extensor. These neurophysiological changes lasted for at least 2 weeks after the end of rMV + PT and paralleled the reduction in spasticity and increase in motor function. A significant correlation was found between the degree of spasticity and the amount of intracortical inhibition. Conclusion. rMV with PT may be used as a nonpharmacological intervention in the neurorehabilitation of mild to moderate hemiparesis.

Long-term effects on motor cortical excitability induced by repeated muscle vibration during contraction in healthy subjects

OBJECTIVE The effects of a novel repeated muscle vibration intervention (rMV; 100 Hz, 90 min over 3 consecutive days) on corticomotor excitability were studied in healthy subjects. METHODS rMV was applied over the flexor carpi radialis (FCR) during voluntary contraction (experiment 1), during relaxation and during contraction without vibration (experiment 2). Focal transcranial magnetic stimulation (TMS) was applied before rMV and one hour, and one, two and three weeks after the last muscle vibration intervention. At each of these time points, we assessed the motor map area and volume in the FCR, extensor digitorum communis (EDC) and abductor digiti minimi (ADM). Short-interval intracortical inhibition (SICI) and facilitation (ICF) were tested for the flexor/extensor muscles alone. RESULTS Following rMV under voluntary contraction, we observed a significant reduction in the FCR map volumes and an enhancement in the EDC. SICI was increased in the FCR and reduced in the EDC. These changes persisted for up to two weeks and occurred at the cortical level in the hemisphere contralateral to the side of the intervention. CONCLUSION We conclude that rMV, applied during a voluntary contraction, may induce prolonged changes in the excitatory/inhibitory state of the primary motor cortex. These findings may represent an important advance in motor disorder rehabilitation.

Efficacy of perceptive rehabilitation in the treatment of chronic nonspecific low back pain through a new tool: a randomized clinical study

Objective: To evaluate the efficacy of a perceptive rehabilitative approach, based on a new device, with regard to pain and disability in patients with chronic nonspecific low back pain. Design: Single blind, randomized, controlled trial. Setting: An outpatient academic hospital. Patients: Seventy-five patients with chronic low back pain. Interventions: Patients were randomized into three groups. Twenty-five subjects received 10 sessions in one month, based on specific perceptive exercises that were performed on a suitably developed device. Twenty-five patients entered a Back School programme. Twenty-five patients comprised a control group that received the same medical and pharmacological assistance as the other groups. Main outcome measures: Pain was assessed using the Visual Analogue Scale and McGill Pain Questionnaire. Disability was evaluated using the Oswestry Disability Index and Waddell Disability Index. All measurements were recorded before treatment, at the end of the study, and at 12 and 24 weeks. Results: General pain relief was recorded in all the groups, which was elicited more quickly in the perceptive treatment group; significant differences in pain scores were observed at the end of treatment (P < 0.001 for visual analogue scale and P = 0.001 for Questionnaire) versus the other groups. Disability scores in the perceptive group did not differ significantly from those in the other group, whereas these scores significantly differed between Back School and control groups at the follow-ups (P < 0.01 for both scales). Conclusion: Perceptive rehabilitation has immediate positive effects on pain. Back School reduces disabilities at follow-up.

Kinematic and kinetic features of normal level walking in patellofemoral pain syndrome: More than a sagittal plane alteration

Patients with patellofemoral pain syndrome (PFPS) often report discomfort and pain during walking. To date, most of the studies conducted to determine gait alterations in PFPS patients have focused on sagittal plane alterations. Physiological and biomechanical factors, however, suggest that frontal and transverse plane alterations may be involved in PFPS. We therefore decided to conduct a kinematic and kinetic evaluation on all three planes in 9 PFPS subjects and 9 healthy sex- and age-matched controls. General gait characteristics were similar in patients and controls, with the exception of swing velocity, which was lower in PFPS patients. Patients also displayed an increased knee abductor and external rotator moments in loading response, and reduced knee extensor moment both in loading response and in terminal stance. We speculate that these findings may be linked both to a pain-avoiding gait pattern and to alterations in the timing of activation of different components of the quadriceps muscle, which is typical of PFPS. The relevance for clinicians is this gait pattern may represent a biomechanical risk factor for future knee osteoarthritis. We therefore recommend that treatments aimed at PFPS should also attempt to restore a correct walking pattern.

Entrapment neuropathies and polyneuropathies in joint hypermobility syndrome/Ehlers-Danlos syndrome.

OBJECTIVE This study aims to investigate the involvement of the peripheral nervous system in Ehlers-Danlos syndromes/hypermobility type patients with particular attention to entrapment syndromes. METHODS We consecutively enrolled Ehlers-Danlos syndromes/hypermobility type patients. Patients underwent clinical, neurophysiological and ultrasound evaluations. Dynamic ultrasound evaluation was also performed in healthy subjects as control group. RESULTS Fifteen Ehlers-Danlos syndromes/hypermobility type patients and fifteen healthy subjects were enrolled. Most of patients presented tingling, numbness, cramps in their hands or feet. Clinical evaluation was normal in all patients. One patient was affected with carpal tunnel syndrome and one with ulnar nerve entrapment at elbow. One patient had an increased and hypoechoic ulnar nerve at elbow at ultrasound evaluation. Dynamic ultrasound evaluation of ulnar nerve at elbow showed, in patients, twelve subluxations and three luxations. In the control group dynamic evaluation showed one case of ulnar nerve luxation. CONCLUSION Statistical analysis showed a significant difference in the occurrence of ulnar nerve subluxation and luxation between patients and control subjects. SIGNIFICANCE The study shows an inconsistency between symptoms and neurophysiological and ultrasound evidences of focal or diffuse nerve involvement. The high prevalence of ulnar nerve subluxation/luxation at elbow in Ehlers-Danlos syndromes/hypermobility type patients could be explained by the presence of Osborne ligament laxity.

Management of chronic pain in osteoporosis: challenges and solutions

Osteoporosis (OP) is a pathological condition that manifests clinically as pain, fractures, and physical disability, resulting in the loss of independence and the need for long-term care. Chronic pain is a multidimensional experience with sensory, affective, and cognitive aspects. Age can affect each of these dimensions and the pain that is experienced. In OP, chronic pain appears to have sensory characteristics and properties of nociceptive and neuropathic pain. Its evaluation and treatment thus require a holistic approach that focuses on the specific characteristics of this population. Pain management must therefore include pharmacological approaches, physiotherapy interventions, educational measures, and, in rare cases, surgical treatment. Most rehabilitative treatments in the management of patients with OP do not evaluate pain or physical function, and there is no consensus on the effects of rehabilitation therapy on back pain or quality of life in women with OP. Pharmacological treatment of pain in patients with OP is usually insufficient. The management of chronic pain in patients with OP is complicated with regard to its diagnosis, the search for reversible secondary causes, the efficacy and duration of oral bisphosphonates, and the function of calcium and vitamin D. The aim of this review is to discuss the most appropriate solutions in the management of chronic pain in OP.

Calcific tendinopathy of the rotator cuff. Conservative management with 434 Mhz local microwave diathermy (hyperthermia): A case study

Purpose. To report the effects of local microwave diathermy (hyperthermia) at 434 Mhz on calcific tendinopathy of the shoulder in two middle aged patients. Methods. Two middle-aged women with calcific tendinopathy of the shoulder were treated with local microwave diathermy (hyperthermia) at 434 Mhz three times a week for four weeks. Plain radiographs and ultrasonography demonstrated calcific deposits in the area of infraspinatus or supraspinatus. Shoulder Pain and Disability Index (SPADI) and passive Range of Motion (ROM) were used to assess the response to treatment. Results. At the end of the treatment period, the improvement as measured by the SPADI score was respectively 30% for the first patient and 40% for the second patient with an improvement of the shoulder passive ROM for both patients. The calcific deposits seen on the initial radiographs and ultrasonography were no longer visible. At 1 year follow-up, both patients continued to be symptom free. Conclusions. Hyperthermia is a safe option in the management of calcific tendinopathy of the shoulder. Prospective randomized controlled studies with long term assessment are needed to further document its therapeutic efficacy.

Effects of a Multidisciplinary Educational Rehabilitative Intervention in Breast Cancer Survivors: The Role of Body Image on Quality of Life Outcomes

In breast cancer survivors, own body image may change due to physical and psychological reasons, worsening womens living. The aim of the study was to investigate whether body image may affect the functional and quality of life outcomes after a multidisciplinary and educational rehabilitative intervention in sixty women with primary nonmetastatic breast cancer who have undergone conservative surgery. To assess the quality of life was administered The European Organization for Research and Treatment of Cancer Study Group on Quality of Life core questionnaire, while to investigate the psychological features and self-image were administered the following scales: the Body Image Scale, the Hamilton Rating Scale for Depression, and the State-Trait Anxiety Inventory. To assess the recovery of the function of the shoulder were administered: the Disabilities of the Arm, Shoulder, and Hand Questionnaire and the Constant-Murley Score. Data were collected at the baseline, at the end of the intervention, and at 3-month follow-up. We found a general improvement in the outcomes related to quality of life, and physical and psychological features after treatment (P < 0.001). During follow-up period, a higher further improvement in women without alterations in body image in respect of those with an altered self-perception of their own body was found (P = 0.01). In conclusion, the body image may influence the efficacy of a rehabilitative intervention, especially in the short term of follow-up.

Acute effect of whole-body vibration at optimal frequency on muscle power output of the lower limbs in older women.

ObjectiveThe aim of this study was to identify the frequency of whole-body vibration (WBV) that elicits the greatest improvement in lower limb power output after an acute exposure in older women, with the hypothesis that an individualized optimal vibration frequency (OVF) would be more effective than a fixed vibration frequency. DesignMaximal power output was measured during a double leg press on an isoinertial dynamometer in nine women with a mean (SD) age of 71 (3) yrs, 1 and 5 mins after WBV on a platform at three different frequencies, in a random order: 20 Hz, 50 Hz, and OVF, determined for each subject by identifying the frequency corresponding to the maximal electromyographic muscle response. ResultsThe mean (SD) OVF was 33 (2.5) Hz. The 25.9% increase in maximal power output after 1 min of WBV at OVF was significantly higher (P < 0.05) than the 14.3% increase after 1 min of WBV at 20 Hz. Similarly, the 32.1% increase in maximal power output after 5 mins of WBV at OVF was significantly higher (P < 0.01) than the 16.1% and 16.3% increase after 5 mins of WBV at 20 Hz and 50 Hz, respectively. ConclusionsFrequency of WBV should be prescribed in an individualized fashion, within the range of 30–35 Hz in this target population of older women.