Background. The hypermobile type of Ehlers–Danlos syndrome (hEDS) is likely the most common hered... more Background. The hypermobile type of Ehlers–Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue mainly characterized by joint hypermobility. Patients with hEDS suffer joint pain, in particular low back pain, commonly resistant to drug therapy. The aim of this research was to evaluate a neurocognitive rehabilitation approach based not only on the motion and function recovery but also on the pain management. Methods. In this nonrandomized clinical trial, eighteen hEDS patients (4 males and 14 females) with mean age 21 years (range 13-55) were recruited and evaluated before and after three months of rehabilitation treatment. Results. The outcome scores showed significant statistical results after treatment in reducing pain symptoms (numerical rating scale, P = 0.003 ; McGill (total score), P = 0.03 ), fatigue (fatigue severity scale, P = 0.03 ), fear of movement (Tampa scale, P = 0.003 ), and pain-associated disability (Oswestry disability index, P ...
Despite newly available therapies for acute stroke and innovative prevention strategies, stroke r... more Despite newly available therapies for acute stroke and innovative prevention strategies, stroke remains the third leading cause of disability-adjusted life-years (DALYs) lost worldwide, mostly because more than half of stroke survivors aged 65 and over exhibit an incomplete functional recovery of the paretic limb. Given that a repeated sensory input is one of the most effective modulators of cortical motor and somatosensory structures, focal muscle vibration (fMV) is gaining growing interest as a safe, well-tolerated, and non-invasive brain stimulation technique to promote motor recovery after stroke with a long-lasting and clinically relevant improvement in strength, step symmetry, gait, and kinematics parameters. In this narrative review, we first summarize the structural (neural plasticity) and functional changes (network relearning) triggered by the stroke lesion and carried out at a brain and spinal cord level in an attempt to recover from the loss of function. Then, we will fo...
ObjectivesMigraine is one of the most frequent clinical manifestations of hypermobile Ehlers-Danl... more ObjectivesMigraine is one of the most frequent clinical manifestations of hypermobile Ehlers-Danlos syndrome (hEDS). The comorbidity between these two diseases has been only partially investigated. We aimed to observe whether neurophysiological alterations described in migraineurs in visual evoked potentials (VEPs) were present in hEDS patients with migraine.MethodsWe enrolled 22 hEDS patients with migraine (hEDS) and 22 non-hEDS patients with migraine (MIG), with and without aura (according to ICHD-3), as well as 22 healthy controls (HC). Repetitive pattern reversal (PR)-VEPs were recorded in basal conditions in all participants. During uninterrupted stimulation, 250 cortical responses were recorded (4,000 Hz sample rate) and divided into epochs of 300 ms after the stimulus. Cerebral responses were divided into five blocks. The habituation was calculated as the slope interpolating the amplitudes in each block, for both the N75-P100 and P100-N145 components of PR-VEP.ResultsWe obser...
Apraxia affects 20% of the right brain-damaged patients and 50% of the left brain-damaged patient... more Apraxia affects 20% of the right brain-damaged patients and 50% of the left brain-damaged patients. This disorder of motor programming reduces patients' independence and there are few guidelines on the rehabilitative treatment in the physiotherapy and speech therapy field.The aim of this study was to assess which therapeutic interventions are the most effective in stroke patients with apraxia in considering the mentioned purviews. Four databases were systematically searched in order to detect all available studies investigating the physical and speech rehabilitation of patients. The literature research produced five studies including 168 patients for the physiotherapy and 50 for speech therapy fields; two were eligible for meta-analysis. Quality was rated with Jadad, PEDro scale and Cochrane Risk Of Bias Tool. Both for physiotherapy and speech therapy fields, the RCTs interventions obtained statistically significant results for outcomes of interest. Despite this, it is still not...
Background: Patients with cervical dystonia (CD) show impaired postural control, balance, and gai... more Background: Patients with cervical dystonia (CD) show impaired postural control, balance, and gait, likely due to abnormal head postures and sensorimotor disturbances. However, until now no study has investigated whether attention-demanding activity worsens postural control and balance in CD patients.Objective: To investigate whether patients with CD show cognitive-motor interference (CMI), a specific kind of dual-task interference that occurs during the simultaneous execution of a cognitive and motor task. This information may be useful to determine whether performing activities of daily living worsens postural control and balance in CD patients.Methods: We performed a pilot case-control study. Twenty-two patients affected by CD and 19 healthy controls were enrolled in order to test CMI. Each subject was evaluated during the execution of a cognitive task while postural stability was assessed through a stabilometric platform.Results: CD patients showed impaired postural control comp...
De Barsy syndrome is an autosomal recessive condition characterized by an progeroid appearance wi... more De Barsy syndrome is an autosomal recessive condition characterized by an progeroid appearance with distinctive facial features and cutis laxa. Ophthalmological, orthopedic, and neurological anomalies are generally also present. This syndrome is rare and the complex therapeutic management, from a surgical but also rehabilitative point of view, has not been recognized. The aim of this paper is to describe a possible rehabilitative protocol, after an orthopedic surgical treatment, in a child with De Barsy Syndrome. A 6-year-old boy was born with a congenital bilateral hip dysplasia associated with bilateral congenital foot deformity (vertical talus). Moreover, he showed stereotypic dyskinetic movements and psychomotor delay with cognitive impairment and absent language; the sitting position was maintained with orthoses to support the trunk control and the standing position was not acquired. He was treated with pinstripe knee-highs for the foot and double nappy for the hips. At 19 mont...
Results The BJWAT score significantly decreased after treatment with NMT application (p<0,05) ... more Results The BJWAT score significantly decreased after treatment with NMT application (p<0,05) evaluated with Friedman test. Conclusion NMT application seems to be a useful, non invasive and low cost treatment to associate with other treatments in the ma-nagement of diabetic foot ulcers. Introduction Foot ulcers are major complications of diabetes mellitus and are estimated to affect 0.5-3% of the global population of people with diabetes. Treatment, prevention and management of foot ulcers is of paramount importance and utilisation of different preventa-tive strategies has been described in literature. The aim of this research study is to evaluate the possible integrative role of NeuroMuscolar Taping (NMT) in the treatment of diabetic foot ulcers. Methods This is an observational study involving patients with 3 to 5 degree of diabetic wound classification. The Bates-Jensen Wound Assessment Tool (BJWAT) was used before and after four weeks of NeuroMuscolar Taping applications.
Neurothekeoma is a very rare benign connective tissue tumour that presumably derived from nerve s... more Neurothekeoma is a very rare benign connective tissue tumour that presumably derived from nerve sheath cells. We described the case of a rare localization of neurothekeoma in the upper limb with a strange presentation. A 49 years-old woman presented to the Physical Medicine and Rehabilitation Division of the Umberto I Hospital referring an intensive pain associated to paresthesias at the left forearm lasting from six months. The patient had a history of epicondylitis confirmed with an elbow RMN showing an increased thickness of the tendon insertions on the epicondiloidea region of the elbow. Rehabilitative and physical therapy has been done without symptoms remission. An ultrasound evaluation showed an oval formation well circumscribed in the context of the radial nerve. It was easy to demonstrate the relevance of the radial nerve, following it from the arch of Frohse until the humeral sulcus of the radial nerve. A MRI that showed a mass, mildly hypointense on T1- weighted sequences...
In 2018, a new clinical subtype, caused by biallelic variants in the AEBP1 gene, encoding the ACL... more In 2018, a new clinical subtype, caused by biallelic variants in the AEBP1 gene, encoding the ACLP protein, was added to the current nosological classification of the Ehlers–Danlos Syndromes (EDS). This new phenotype, provisionally termed EDS classical-like type 2 (clEDS2), has not yet been fully characterized, as only nine cases have been reported to date. Here we describe a patient, homozygous for a novel AEBP1 pathogenic variant (NM_001129.5 c.2123_2124delTG (p.Val708AlafsTer5)), whose phenotype is reminiscent of classical EDS but also includes previously unreported multiple congenital malformations. Furthermore, we briefly summarize the current principal clinical manifestations of clEDS2 and the molecular evidence surrounding the role of AEBP1 in the context of extracellular matrix homeostasis and connective tissue development. Although a different coexisting etiology for the multiple congenital malformations of our patient cannot be formally excluded, the emerging role of ACLP ...
Ehlers–Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders ... more Ehlers–Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Among the different types, the hypermobile EDS (hEDS) is the most frequent, and includes generalized joint hypermobility as the major diagnostic criterion. Joint hypermobility in hEDS is often associated with pain that not always allow the use of effective pain-reducing treatments. Patients with hEDS always talk about pain using a lot of descriptions. Eighty-nine patients with diagnosis of hEDS were recruited and evaluated. They were asked to write down what grief was to them. The texts were analyzed through LIWC. Correlational analyses were conducted between pain perception and language. A comparison of high/low pain perception and quality of metaphors was carried out. The results showed, depending on the level of pain perception, different language quality is evidenced. The greater the pain the...
The Timed Up and Go test (TUG) is used to assess individual mobility. It evaluates static and dyn... more The Timed Up and Go test (TUG) is used to assess individual mobility. It evaluates static and dynamic balance by means of the total time required to complete the test, usually measured by a stopwatch. In recent years tools based on portable inertial measurement units (IMU) for clinical application are increasingly available on the market. More specifically, a tool (hardware and dedicated software) to quantify the TUG test based on IMU is now available. However, it has not yet been validated in subjects with Parkinson&amp;amp;amp;amp;#39;s disease (PD). Thus, the aim of this study is to compare measurements from instrumented TUG tests (or iTUG) acquired by an IMU with those obtained using an optoelectronic system (the gold standard) and by a stopwatch, to gain an in-depth understanding of IMU behavior in computing iTUG in subjects with PD. To do this, three TUG test trials were carried out on 30 subjects with PD and measured with all three systems simultaneously. System agreements were evaluated using Intraclass Correlation Coefficient and Bland-Altman plots. The device tested showed excellent reliability, accuracy and precision in quantifying total TUG test duration. Since TUG is a widely used test in rehabilitation settings, its automatic quantification through IMUs could potentially improve the quality of assessments in the quantification of PD gait ability.
The tactile sensitivity has been used as a model to analyze the cortical organization's princ... more The tactile sensitivity has been used as a model to analyze the cortical organization's principles in order to realize a conscious perception. Somatosensory cortex is a perceptive macrosystem localized in the parietal cortex organized to represent the whole tactile system. Touch is a double complex sensory system because is localized in the hand, but also generalized as the whole body presence and may be described in three tactile perceptions forms: the passive touch, the active touch and the dynamic one. In last years, tactile perception received particular attention from scientists linked to the possible application in robotics, using the haptic perception, and for the therapeutic application in rehabilitation.
Background. The hypermobile type of Ehlers–Danlos syndrome (hEDS) is likely the most common hered... more Background. The hypermobile type of Ehlers–Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue mainly characterized by joint hypermobility. Patients with hEDS suffer joint pain, in particular low back pain, commonly resistant to drug therapy. The aim of this research was to evaluate a neurocognitive rehabilitation approach based not only on the motion and function recovery but also on the pain management. Methods. In this nonrandomized clinical trial, eighteen hEDS patients (4 males and 14 females) with mean age 21 years (range 13-55) were recruited and evaluated before and after three months of rehabilitation treatment. Results. The outcome scores showed significant statistical results after treatment in reducing pain symptoms (numerical rating scale, P = 0.003 ; McGill (total score), P = 0.03 ), fatigue (fatigue severity scale, P = 0.03 ), fear of movement (Tampa scale, P = 0.003 ), and pain-associated disability (Oswestry disability index, P ...
Despite newly available therapies for acute stroke and innovative prevention strategies, stroke r... more Despite newly available therapies for acute stroke and innovative prevention strategies, stroke remains the third leading cause of disability-adjusted life-years (DALYs) lost worldwide, mostly because more than half of stroke survivors aged 65 and over exhibit an incomplete functional recovery of the paretic limb. Given that a repeated sensory input is one of the most effective modulators of cortical motor and somatosensory structures, focal muscle vibration (fMV) is gaining growing interest as a safe, well-tolerated, and non-invasive brain stimulation technique to promote motor recovery after stroke with a long-lasting and clinically relevant improvement in strength, step symmetry, gait, and kinematics parameters. In this narrative review, we first summarize the structural (neural plasticity) and functional changes (network relearning) triggered by the stroke lesion and carried out at a brain and spinal cord level in an attempt to recover from the loss of function. Then, we will fo...
ObjectivesMigraine is one of the most frequent clinical manifestations of hypermobile Ehlers-Danl... more ObjectivesMigraine is one of the most frequent clinical manifestations of hypermobile Ehlers-Danlos syndrome (hEDS). The comorbidity between these two diseases has been only partially investigated. We aimed to observe whether neurophysiological alterations described in migraineurs in visual evoked potentials (VEPs) were present in hEDS patients with migraine.MethodsWe enrolled 22 hEDS patients with migraine (hEDS) and 22 non-hEDS patients with migraine (MIG), with and without aura (according to ICHD-3), as well as 22 healthy controls (HC). Repetitive pattern reversal (PR)-VEPs were recorded in basal conditions in all participants. During uninterrupted stimulation, 250 cortical responses were recorded (4,000 Hz sample rate) and divided into epochs of 300 ms after the stimulus. Cerebral responses were divided into five blocks. The habituation was calculated as the slope interpolating the amplitudes in each block, for both the N75-P100 and P100-N145 components of PR-VEP.ResultsWe obser...
Apraxia affects 20% of the right brain-damaged patients and 50% of the left brain-damaged patient... more Apraxia affects 20% of the right brain-damaged patients and 50% of the left brain-damaged patients. This disorder of motor programming reduces patients' independence and there are few guidelines on the rehabilitative treatment in the physiotherapy and speech therapy field.The aim of this study was to assess which therapeutic interventions are the most effective in stroke patients with apraxia in considering the mentioned purviews. Four databases were systematically searched in order to detect all available studies investigating the physical and speech rehabilitation of patients. The literature research produced five studies including 168 patients for the physiotherapy and 50 for speech therapy fields; two were eligible for meta-analysis. Quality was rated with Jadad, PEDro scale and Cochrane Risk Of Bias Tool. Both for physiotherapy and speech therapy fields, the RCTs interventions obtained statistically significant results for outcomes of interest. Despite this, it is still not...
Background: Patients with cervical dystonia (CD) show impaired postural control, balance, and gai... more Background: Patients with cervical dystonia (CD) show impaired postural control, balance, and gait, likely due to abnormal head postures and sensorimotor disturbances. However, until now no study has investigated whether attention-demanding activity worsens postural control and balance in CD patients.Objective: To investigate whether patients with CD show cognitive-motor interference (CMI), a specific kind of dual-task interference that occurs during the simultaneous execution of a cognitive and motor task. This information may be useful to determine whether performing activities of daily living worsens postural control and balance in CD patients.Methods: We performed a pilot case-control study. Twenty-two patients affected by CD and 19 healthy controls were enrolled in order to test CMI. Each subject was evaluated during the execution of a cognitive task while postural stability was assessed through a stabilometric platform.Results: CD patients showed impaired postural control comp...
De Barsy syndrome is an autosomal recessive condition characterized by an progeroid appearance wi... more De Barsy syndrome is an autosomal recessive condition characterized by an progeroid appearance with distinctive facial features and cutis laxa. Ophthalmological, orthopedic, and neurological anomalies are generally also present. This syndrome is rare and the complex therapeutic management, from a surgical but also rehabilitative point of view, has not been recognized. The aim of this paper is to describe a possible rehabilitative protocol, after an orthopedic surgical treatment, in a child with De Barsy Syndrome. A 6-year-old boy was born with a congenital bilateral hip dysplasia associated with bilateral congenital foot deformity (vertical talus). Moreover, he showed stereotypic dyskinetic movements and psychomotor delay with cognitive impairment and absent language; the sitting position was maintained with orthoses to support the trunk control and the standing position was not acquired. He was treated with pinstripe knee-highs for the foot and double nappy for the hips. At 19 mont...
Results The BJWAT score significantly decreased after treatment with NMT application (p<0,05) ... more Results The BJWAT score significantly decreased after treatment with NMT application (p<0,05) evaluated with Friedman test. Conclusion NMT application seems to be a useful, non invasive and low cost treatment to associate with other treatments in the ma-nagement of diabetic foot ulcers. Introduction Foot ulcers are major complications of diabetes mellitus and are estimated to affect 0.5-3% of the global population of people with diabetes. Treatment, prevention and management of foot ulcers is of paramount importance and utilisation of different preventa-tive strategies has been described in literature. The aim of this research study is to evaluate the possible integrative role of NeuroMuscolar Taping (NMT) in the treatment of diabetic foot ulcers. Methods This is an observational study involving patients with 3 to 5 degree of diabetic wound classification. The Bates-Jensen Wound Assessment Tool (BJWAT) was used before and after four weeks of NeuroMuscolar Taping applications.
Neurothekeoma is a very rare benign connective tissue tumour that presumably derived from nerve s... more Neurothekeoma is a very rare benign connective tissue tumour that presumably derived from nerve sheath cells. We described the case of a rare localization of neurothekeoma in the upper limb with a strange presentation. A 49 years-old woman presented to the Physical Medicine and Rehabilitation Division of the Umberto I Hospital referring an intensive pain associated to paresthesias at the left forearm lasting from six months. The patient had a history of epicondylitis confirmed with an elbow RMN showing an increased thickness of the tendon insertions on the epicondiloidea region of the elbow. Rehabilitative and physical therapy has been done without symptoms remission. An ultrasound evaluation showed an oval formation well circumscribed in the context of the radial nerve. It was easy to demonstrate the relevance of the radial nerve, following it from the arch of Frohse until the humeral sulcus of the radial nerve. A MRI that showed a mass, mildly hypointense on T1- weighted sequences...
In 2018, a new clinical subtype, caused by biallelic variants in the AEBP1 gene, encoding the ACL... more In 2018, a new clinical subtype, caused by biallelic variants in the AEBP1 gene, encoding the ACLP protein, was added to the current nosological classification of the Ehlers–Danlos Syndromes (EDS). This new phenotype, provisionally termed EDS classical-like type 2 (clEDS2), has not yet been fully characterized, as only nine cases have been reported to date. Here we describe a patient, homozygous for a novel AEBP1 pathogenic variant (NM_001129.5 c.2123_2124delTG (p.Val708AlafsTer5)), whose phenotype is reminiscent of classical EDS but also includes previously unreported multiple congenital malformations. Furthermore, we briefly summarize the current principal clinical manifestations of clEDS2 and the molecular evidence surrounding the role of AEBP1 in the context of extracellular matrix homeostasis and connective tissue development. Although a different coexisting etiology for the multiple congenital malformations of our patient cannot be formally excluded, the emerging role of ACLP ...
Ehlers–Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders ... more Ehlers–Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Among the different types, the hypermobile EDS (hEDS) is the most frequent, and includes generalized joint hypermobility as the major diagnostic criterion. Joint hypermobility in hEDS is often associated with pain that not always allow the use of effective pain-reducing treatments. Patients with hEDS always talk about pain using a lot of descriptions. Eighty-nine patients with diagnosis of hEDS were recruited and evaluated. They were asked to write down what grief was to them. The texts were analyzed through LIWC. Correlational analyses were conducted between pain perception and language. A comparison of high/low pain perception and quality of metaphors was carried out. The results showed, depending on the level of pain perception, different language quality is evidenced. The greater the pain the...
The Timed Up and Go test (TUG) is used to assess individual mobility. It evaluates static and dyn... more The Timed Up and Go test (TUG) is used to assess individual mobility. It evaluates static and dynamic balance by means of the total time required to complete the test, usually measured by a stopwatch. In recent years tools based on portable inertial measurement units (IMU) for clinical application are increasingly available on the market. More specifically, a tool (hardware and dedicated software) to quantify the TUG test based on IMU is now available. However, it has not yet been validated in subjects with Parkinson&amp;amp;amp;amp;#39;s disease (PD). Thus, the aim of this study is to compare measurements from instrumented TUG tests (or iTUG) acquired by an IMU with those obtained using an optoelectronic system (the gold standard) and by a stopwatch, to gain an in-depth understanding of IMU behavior in computing iTUG in subjects with PD. To do this, three TUG test trials were carried out on 30 subjects with PD and measured with all three systems simultaneously. System agreements were evaluated using Intraclass Correlation Coefficient and Bland-Altman plots. The device tested showed excellent reliability, accuracy and precision in quantifying total TUG test duration. Since TUG is a widely used test in rehabilitation settings, its automatic quantification through IMUs could potentially improve the quality of assessments in the quantification of PD gait ability.
The tactile sensitivity has been used as a model to analyze the cortical organization's princ... more The tactile sensitivity has been used as a model to analyze the cortical organization's principles in order to realize a conscious perception. Somatosensory cortex is a perceptive macrosystem localized in the parietal cortex organized to represent the whole tactile system. Touch is a double complex sensory system because is localized in the hand, but also generalized as the whole body presence and may be described in three tactile perceptions forms: the passive touch, the active touch and the dynamic one. In last years, tactile perception received particular attention from scientists linked to the possible application in robotics, using the haptic perception, and for the therapeutic application in rehabilitation.
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Papers by Filippo Camerota