Filippo Camerota

Camptocormia in Parkinson disease: an epidemiological and clinical study

Background: Camptocormia is an abnormal flexion of the thoracolumbar spine during standing and walking that abates in the recumbent position. Methods: In a single-centre epidemiological and clinical study, the prevalence of camptocormia in Parkinson disease (PD) and its relationship with the clinical features of PD were investigated. A total of 275 consecutive outpatients were systematically screened for camptocormia with a clinical evaluation. Patients who screened positive for camptocormia were subsequently reassessed by formal goniometric analysis. The demographic and clinical features of the patients with and without camptocormia were then compared. Results: A 6.9% (19/275, 95% CI, 4.2 to 10.6) prevalence of camptocormia was found. Camptocormia was found in patients with more severe PD, as clinically assessed by the Hoehn–Yahr (HY) staging and the motor Unified Parkinson Disease Rating Scale (UPDRS) part III, longer l-dopa treatment duration and greater l-dopa daily dose and presence of DSM-IV dementia. Camptocormia was reported to develop after the clinical onset of PD. No correlation was found between the degree of trunk flexion and age, duration of PD, UPDRS motor score, HY staging, and l-dopa treatment duration and dose. As a risk factor, the study identified previous vertebral surgery. Conclusions: Camptocormia, a relatively common sign in PD seems to be related to the clinical severity of PD.

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.

Peroneus Longus Muscle Activation Pattern During Gait Cycle in Athletes Affected by Functional Ankle Instability A Surface Electromyographic Study

Background Functional ankle instability is a clinical syndrome that may develop after acute lateral ankle sprain. Although several causes of this functional instability have been suggested, it is still unclear what the activation pattern of the peroneus longus muscle is in patients with functional ankle instability. Hypothesis Peroneus longus activation patterns differ in the injured side and the uninjured side in subjects with functional ankle instability. Study Design Descriptive laboratory study. Methods The authors examined 14 subjects with functional ankle instability by using surface electromyography during walking. Activation time of the peroneus longus muscle was expressed as a percentage of the stance phase of the gait cycle. Results A statistically significant decrease in peroneus longus muscle activity was found in the injured side compared with the uninjured side (22.8% ± 4.25% vs 37.6% ± 3.5%, respectively). Conclusions Results obtained in this study show a change in peroneus longus muscle activation time after injury. Independent of the origin of this change, which could only be surmised, the decrease in peroneus longus muscle activity may result in reduced protection against lateral sprains. Clinical Relevance The assessment of peroneus longus activation pattern during gait is useful to design an appropriate rehabilitation program in athletes suffering from functional ankle instability.

Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach

Joint hypermobility syndrome (JHS), or Ehlers–Danlos syndrome (EDS) hypermobility type (EDS‐HT), is a underdiagnosed heritable connective tissue disorder characterized by generalized joint hypermobility and a wide range of visceral, pelvic, neurologic, and cognitive dysfunctions. Deterioration of quality of life is mainly associated with pain and fatigue. Except for the recognized effectiveness of physiotherapy for some musculoskeletal features, there are no standardized guidelines for the assessment and treatment of pain and fatigue. In this work, a practical classification of pain presentations and factors contributing in generating painful sensations in JHS/EDS‐HT is proposed. Pain can be topographically classified in articular limb (acute/subacute and chronic), muscular limb (myofascial and fibromyalgia), neuropathic limb, back/neck, abdominal and pelvic pain, and headache. For selected forms of pain, specific predisposing characteristics are outlined. Fatigue appears as the result of multiple factors, including muscle weakness, respiratory insufficiency, unrefreshing sleep, dysautonomia, intestinal malabsorption, reactive depression/anxiety, and excessive use of analgesics. A set of lifestyle recommendations to instruct patients as well as specific investigations aimed at characterizing pain and fatigue are identified. Available treatment options are discussed in the set of a structured multidisciplinary approach based on reliable outcome tools.

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.

Ehlers–Danlos syndrome hypermobility type and the excess of affected females: Possible mechanisms and perspectives†

Ehlers–Danlos Syndrome Hypermobility Type and the Excess of Affected Females: Possible Mechanisms and Perspectives Marco Castori,* Filippo Camerota, Claudia Celletti, Paola Grammatico, and Luca Padua Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy Physical Medicine and Rehabilitation Division, Sapienza University, Umberto I Hospital, Rome, Italy Don Carlo Gnocchi Onlus Foundation, Milan, Italy Institute of Neurology, Catholic University of the Sacred Heart, Rome, Italy

Focal Muscle Vibration in the Treatment of Upper Limb Spasticity: A Pilot Randomized Controlled Trial in Patients With Chronic Stroke

OBJECTIVE To examine the clinical effect of repetitive focal muscle vibration (rMV) on the motor function of the upper extremity 1 month after treatment in patients with chronic stroke. DESIGN We performed a pilot randomized controlled trial using a double-blind, parallel-group study design. SETTING Medical center. PARTICIPANTS Patients with chronic stroke (N=49). INTERVENTIONS Patients randomly assigned to the study group (SG) received rMV, while patients in the control group (CG) received a placebo vibratory treatment. The patients and the clinical examiner were blind to the intervention. MAIN OUTCOME MEASURES The primary endpoint was an improvement of more than .37 points on the Functional Ability Scale of the Wolf Motor Function Test (WMFT FAS). The Modified Ashworth Scale and the visual analog scale were the secondary outcome measures. All measures were administered before the treatment (t0) and 1 week (t1) and 1 month (t2) after the treatment. RESULTS Twenty-eight patients were allocated to the SG and 21 to the CG. The analysis of variance for repeated measurements revealed a significant difference in the expression of the WMFT FAS score over time only in the SG (P=.006). The treatment was successful for 7 (33%) of 21 patients recruited in the SG and for 2 (13%) of 15 patients recruited in the CG. The relative risk was 2.5 (95% confidence interval, .60-10.39), and the number needed to treat was 5. The Wilcoxon test showed a statistically significant difference between t0 and t2 in the SG (P=.02). No adverse event was observed in the 2 groups. CONCLUSIONS Our results suggest that rMV treatment of the upper limb may improve the functional ability of chronic stroke patients, but a larger, multicenter, randomized controlled study is needed.

Measuring regularity of human postural sway using approximate entropy and sample entropy in patients with Ehlers-Danlos syndrome hypermobility type.

Ligament laxity in Ehlers-Danlos syndrome hypermobility type (EDS-HT) patients can influence the intrinsic information about posture and movement and can have a negative effect on the appropriateness of postural reactions. Several measures have been proposed in literature to describe the planar migration of CoP over the base of support, and the most used in clinical field are the CoP excursions in antero-posterior and medio-lateral direction. In recent years a growing number of studies have been designed to explore the complexity of the COP trajectories during quiet standing. We assessed 13 adults with EDS-HT (EDSG) and 20 healthy adults (CG) during static posture, evaluating the CoP using time and frequency domain analysis and entropy analysis (SampEn and ApEn parameters). Higher values of CoP displacements in medio-lateral and anterior-posterior directions for EDSG than CG were found; no differences were observed in CoP frequency. The entropy analysis showed lower value for EDSG than CG, pointing out the needing of EDSG to concentrate more attention on postural control, loosing complexity and reflecting a less automatized postural control.

Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers–Danlos syndrome hypermobility type) in 82 Italian patients†‡

Joint hypermobility syndrome (JHS) emerges as likely the most common clinical form of Ehlers–Danlos syndrome. Given the striking predominance of affected women, practitioners often face gynecologic and obstetric issues. However, their decisions are still based on personal experience rather than literature due to the lack of a consistent body of evidence. We collected a set of gynecologic and obstetric features in 82 post‐puberal women with JHS attending two Italian centers. Common gynecologic findings were dysmenorrhea (82.9%), meno/metrorrhagias (53.7%), irregular menses (46.3%), and dispareunia/vulvodinia (31.7%). Forty women were nulliparous and 42 had one or more pregnancy for a total of 93 diagnosed conceptions. Of them, 16.1% were spontaneous abortions, 6.5% voluntary interruptions, 10.7% preterm deliveries, and 66.7% deliveries at term. Overall outcome of proceeding pregnancies was good with no stillbirth and fetal/neonatal hypoxic/ischemic event. Non‐operative vaginal delivery was registered in 72.2%, forceps/vacuum use in 5.5% and cesarean in 22.3%. Local/total anesthesia was successfully performed in 17 pregnancies without any problem. Major post‐partum complications included abnormal scar formation after cesarean or episiotomy (46.1%), hemorrhage (19.4%), pelvic prolapses (15.3%), deep venous thrombosis (4.2%), and coccyx dislocation (1.4%). Prolapses were the most clinically relevant complication and associated with episiotomy. Gathered data were discussed for practically oriented considerations.