Salvatore Mazza | Università Cattolica del Sacro Cuorre (original) (raw)
Papers by Salvatore Mazza
Neurological Sciences, Oct 1, 2001
. We assessed the health-related quality of life (HRQoL) of patients with myasthenia gravis (MG... more . We assessed the health-related quality of life (HRQoL) of patients with myasthenia gravis (MG) and correlated it with the physician's measurements of MG. Patients with MG were evaluated by means of (1) self-administered questionnaires, (2) clinical examination, (3) Osserman classification, (4) anti-AChR antibody, and (5) neurophysiology. Relationships between patient-oriented assessment and conventional clinical-neurophysiological and serological findings were evaluated. A
Pain Medicine, Apr 1, 2013
Objective. To measure the presence of the alphasleep anomaly in facioscapulohumeral muscular dyst... more Objective. To measure the presence of the alphasleep anomaly in facioscapulohumeral muscular dystrophy (FSHD) and to evaluate the association between the sleep electroencephalogram (EEG) pattern and the presence of musculoskeletal pain. Design. Cross-sectional study. Setting. Sleep laboratory. Subjects. Fifty-five consecutive adult FSHD patients, 26 women and 29 men, age 49.6 Ϯ 15.1 years (range 18-76). Interventions. Questionnaires and polysomnography. Outcome Measures. Patients were asked to indicate if in the 3 months before the sleep study they presented persisting or recurring musculoskeletal pain. Patients who reported pain were asked to fill in the Italian version of the Brief Pain Inventory and the McGill Pain questionnaire, and a 101-point visual analog scale (VAS) for pain intensity. Polysomnographic recordings were performed. EEG was analyzed by means of Fast Fourier Transform. Four power spectra bands (d 0-4 Hz, q 4-8 Hz, a 8-14 Hz, b 14-32 Hz) were computed. Sleep macrostructure parameters and alpha/delta EEG power ratio during non rapid eye movement (NREM) sleep were compared between patients with and without pain. Results. Forty-two patients in our sample reported chronic pain. VAS mean score was 55.2 Ϯ 23.8 (range 10-100), pain rating index score was 13.8 Ϯ 10.2, and present pain intensity was 2.5 Ϯ 0.8. The statistical analysis documented an increased occurrence of the alpha and beta rhythms during NREM sleep in FSHD patients with pain. Significant correlations were observed between the alpha/delta power ratio during NREM sleep and pain measures. Conclusions. Chronic musculoskeletal pain is frequent in FSHD patients, and it represents a major mechanism of sleep disruption.
PubMed, 1990
One of the fundamental dynamics of psychic adaptation to both intra-psychic and relational stimul... more One of the fundamental dynamics of psychic adaptation to both intra-psychic and relational stimuli is the defense mechanism of repression in correlation with that of isolation. Our work is concerned with testing whether the use of these mechanisms can constitute, in the case of MS patients, one of the factors which would explain various psychological reactions which are inadequate or pathological. It is to be expected that the trend of these defense mechanisms will be significantly altered in the case of MS patients. In our research we evaluated the Rorschach's Index of Repressive Style (Levine and Spivack, 1964) and the Index of Isolation (Crisi and Caviglia, 1987). The experimental group consisted of 40 MS subjects (20 males and 20 females, age range 20-47) not exceeding level 5 on Kurtzke's Disability Scale. 40 healthy subjects (20 males and 20 females, age range 22-50) were used as a control group. The MS group showed more severe signs of repression than the control group; the MS group showed also more severe signs of activation of the defense mechanism of isolation.
PubMed, May 3, 2005
The neuroendocrine system, which plays an important role in regulation of mood, is dysfunctional ... more The neuroendocrine system, which plays an important role in regulation of mood, is dysfunctional in patients suffering from mood disorders. In order to improve the quality of life for patients, additional research is needed to define clinical implications of neuroendocrine dysfunction in mood disorders. It would be important to define which specific hormonal responses that are blunted in affective disorders contribute to mood symptoms and which medications that normalize neuroendocrine function are conditioning the impact of mood symptoms. Consideration and evaluation of endocrine status result important in psychiatric patients, both to ensure proper diagnosis and adequate treatment.
Elsevier eBooks, 2019
Abstract Schizophrenia is a major mental disorder characterized by hallucinations, delirium, beha... more Abstract Schizophrenia is a major mental disorder characterized by hallucinations, delirium, behavioral disorders, and a variable range of chronic persistent symptoms. The mainstay in the pharmacologic treatment of schizophrenia is represented by antipsychotic agents. Nevertheless, an increasing body of evidence suggests that supplementation with omega-3 fatty acids may improve the course and symptoms of schizophrenia. Omega-3 fatty acids are necessary for the human organism to develop and function optimally, in maintaining normal physiological conditions, and, consequently, in human health. Therefore, its intake is very important through all stages of life. The current paper discusses the growing body of research examining the relationship between schizophrenia and omega-3 fatty acids that supports the efficacy of polyunsaturated fatty acids as a supplemental treatment.
The recent review by Pratoomsri et al 1 on the use of oxcarbazepine (OXC) in the treatment of bip... more The recent review by Pratoomsri et al 1 on the use of oxcarbazepine (OXC) in the treatment of bipolar disorder (BD) requires comment. The authors summarize case reports, retrospective chart reviews, open prospective studies, and double-blind studies reporting the efficacy and effectiveness of OXC in treating BD. Nevertheless, they fail to show the many biases in these reported studies. For example, they report the 2 double-blind, multicentre trials of 2 weeks' duration comparing OXC with haloperidol and lithium, respectively, in patients with acute mania. 2 Although OXC and the comparator drug were of equal efficacy in both studies, these studies were limited by relatively small sample sizes, lack of placebo control, and meager descriptions of study designs and outcomes. 3 Besides, in the study by Hummel et al, 4 the individual courses and scores of the Young Mania Rating Scale suggest a certain antimanic property of OXC only in patients with low-to-moderate manic episodes. Thus the usefulness of OXC monotherapy in severe mania appears doubtful.
Pain Research & Management, Nov 3, 2019
Restless legs syndrome (RLS) is characterized by unpleasant sensations generally localized to leg... more Restless legs syndrome (RLS) is characterized by unpleasant sensations generally localized to legs, associated with an urge to move. A likely pathogenetic mechanism is a central dopaminergic dysfunction. e exact role of pain system is unclear. e purpose of the study was to investigate the nociceptive pathways in idiopathic RLS patients. We enrolled 11 patients (mean age 53.2 ± 19.7 years; 7 men) suffering from severe, primary RLS. We recorded scalp laser-evoked potentials (LEPs) to stimulation of different sites (hands and feet) and during two different time conditions (daytime and nighttime). Finally, we compared the results with a matched control group of healthy subjects. e Aδ responses obtained from patients did not differ from those recorded from control subjects. However, the N1 and the N2-P2 amplitudes' night/day ratios after foot stimulation were increased in patients, as compared to controls (N1: patients: 133.91 ± 50.42%; controls: 83.74 ± 34.45%; p � 0.016; Aδ-N2-P2: patients: 119.15 ± 15.56%; controls: 88.42 ± 23.41%; p � 0.003). ese results suggest that RLS patients present circadian modifications in the pain system, which are not present in healthy controls. Both sensory-discriminative and affective-emotional components of pain experience show parallel changes. is study confirms the structural integrity of Aδ nociceptive system in idiopathic RLS, but it also suggests that RLS patients present circadian modifications in the pain system. ese findings could potentially help clinicians and contribute to identify new therapeutic approaches.
Psychological Disorders and Research, 2021
Handwriting analysis dates back to many centuries ago. Graphology is a discipline that investigat... more Handwriting analysis dates back to many centuries ago. Graphology is a discipline that investigates personality and intellect of the individual through writing, indeed handwriting of the human being is an expression of his or her essence. Graphology examines a writing in order to extract unfiltered information about innate temperament and subconscious nature of who has traced the letters. The present paper highlights the historical and methodological approaches of graphology and its usefulness in human knowledge in order to give a glimpse of the complexity of this discipline. We have gradually focused on the description of the various fields with which, over time until today, the graphologists have dealt according to experimental and epistemological methodologies along a spectrum that ranges from studies on the character, the neuronal and biological correlates, the use in the forensic field, until to the contributions to career counseling and personnel selection. This manuscript aim...
Archives of neurology, Jun 1, 2008
AHEALTHY 28 YEARold man developed acute pharyngitis and fever. Three days later he experienced a ... more AHEALTHY 28 YEARold man developed acute pharyngitis and fever. Three days later he experienced a prolonged generalized tonicclonic seizure that required admission into the intensive care unit. Neurological examination findings were unremarkable. Analysis of his cerebrospinal fluid identified herpes simplex DNA. Other laboratory findings from cerebrospinal fluid analysis were a glucose level of 69 mg/dL; a protein level of 44 mg/dL; and leukocytes, 18/mm3. Results from electrocardiographic monitoring showed episodes of progressive slowing of the heart rate that lead to severe bradycardia (30 beats/min) and sometimes brief periods of asystole. These episodes lasted 1 to 2 minutes. Interictal electrocardiographic findings were normal, in particular long QT syndrome was ruled out. Electroencephalographic monitoring revealed nonconvulsive epileptic seizures, withoutmotormanifestations. Epileptic discharges arose from the right temporal lobe and spread contralaterally (Figure 1). These seizures recurred up to 20 times per day and were controlled with high doses of valproate sodium and carbamazepine. Magnetic resonance imaging showed a small area of abnormal signal below the right insular cortex (Figure 2). In 6 weeks the patient fully recovered without any neurological impairment. Antiepileptic treatment was continued, and he experienced no seizures in the following 6 months
Neurological Sciences
We assessed the health-related quality of life (HRQoL) of patients with myasthenia gravis (MG) an... more We assessed the health-related quality of life (HRQoL) of patients with myasthenia gravis (MG) and correlated it with the physician's measurements of MG. Patients with MG were evaluated by means of (1) self-administered questionnaires, (2) clinical examination, (3) Osserman classification, (4) anti-AChR antibody, and (5) neurophysiology. Relationships between patient-oriented assessment and conventional clinical-neurophysiological and serological findings were evaluated. A total of 46 patients, inpatients and outpatients (mean age 50.7 years, range 11-77 years, 17 males, 29 females) with MG diagnosis were studied. The Osserman scale and clinical examination findings were significantly related to the physical aspects of HRQoL. Mental aspects of the quality of life were not progressively involved as muscle deficit progressed, but even in a mild clinical picture, the mental aspects were deteriorated. Patient-oriented measures proved that the patient's quality of life was impair...
European Journal of Pediatrics, 1978
Forty-one cerebrospinal fluid (CSF) specimens from children were investigated with a radioimmunoa... more Forty-one cerebrospinal fluid (CSF) specimens from children were investigated with a radioimmunoassay for their content of myelin basic protein (BP). Eight specimens were regarded as BP-positive (BP is greater than or equal to 1.0 ng/ml). Twenty-nine were BP-negative and 4 could not be analyzed because of an excessive protein content. The BP-positive samples were from 6 children with evidence of severe acute brain damage leading to death in 5 cases: i.e., 2 term newborns with perinatal asphyxia, a 4 week-old child with severe convulsions, a 3 year-old boy with hypoxia due to laryngitis, and a 12 year-old girl with encephalitis. One preterm baby survived severe hypoxia and developed hydrocephalus shortly afterwards. We conclude that BP becomes detectable in CSF of newborns and older children under certain pathological conditions, and that the presence of BP in CSF may be associated with severe brain tissue destruction.
Neurological Sciences, Oct 1, 2001
ABSTRACT We assessed the health-related quality of life (HRQoL) of patients with myasthenia gravi... more ABSTRACT We assessed the health-related quality of life (HRQoL) of patients with myasthenia gravis (MG) and correlated it with the physician's measurements of MG. Patients with MG were evaluated by means of (1) self-administered questionnaires, (2) clinical examination, (3) Osserman classification, (4) anti-AChR antibody, and (5) neurophysiology. Relationships between patient-oriented assessment and conventional clinical-neurophysiological and serological findings were evaluated. A total of 46 patients, inpatients and outpatients (mean age 50.7 years, range 11-77 years, 17 males, 29 females) with MG diagnosis were studied. The Osserman scale and clinical examination findings were significantly related to the physical aspects of HRQoL. Mental aspects of the quality of life were not progressively involved as muscle deficit progressed, but even in a mild clinical picture, the mental aspects were deteriorated. Patient-oriented measures proved that the patient's quality of life was impaired especially with regard to physical aspects. Our data demonstrated that clinical measurements are related to the HRQoL. The results may be useful in developing a disease-specific patient-oriented tool.
Journal of the Neurological Sciences, 1997
Neurological Sciences, Oct 1, 2001
. We assessed the health-related quality of life (HRQoL) of patients with myasthenia gravis (MG... more . We assessed the health-related quality of life (HRQoL) of patients with myasthenia gravis (MG) and correlated it with the physician's measurements of MG. Patients with MG were evaluated by means of (1) self-administered questionnaires, (2) clinical examination, (3) Osserman classification, (4) anti-AChR antibody, and (5) neurophysiology. Relationships between patient-oriented assessment and conventional clinical-neurophysiological and serological findings were evaluated. A
Pain Medicine, Apr 1, 2013
Objective. To measure the presence of the alphasleep anomaly in facioscapulohumeral muscular dyst... more Objective. To measure the presence of the alphasleep anomaly in facioscapulohumeral muscular dystrophy (FSHD) and to evaluate the association between the sleep electroencephalogram (EEG) pattern and the presence of musculoskeletal pain. Design. Cross-sectional study. Setting. Sleep laboratory. Subjects. Fifty-five consecutive adult FSHD patients, 26 women and 29 men, age 49.6 Ϯ 15.1 years (range 18-76). Interventions. Questionnaires and polysomnography. Outcome Measures. Patients were asked to indicate if in the 3 months before the sleep study they presented persisting or recurring musculoskeletal pain. Patients who reported pain were asked to fill in the Italian version of the Brief Pain Inventory and the McGill Pain questionnaire, and a 101-point visual analog scale (VAS) for pain intensity. Polysomnographic recordings were performed. EEG was analyzed by means of Fast Fourier Transform. Four power spectra bands (d 0-4 Hz, q 4-8 Hz, a 8-14 Hz, b 14-32 Hz) were computed. Sleep macrostructure parameters and alpha/delta EEG power ratio during non rapid eye movement (NREM) sleep were compared between patients with and without pain. Results. Forty-two patients in our sample reported chronic pain. VAS mean score was 55.2 Ϯ 23.8 (range 10-100), pain rating index score was 13.8 Ϯ 10.2, and present pain intensity was 2.5 Ϯ 0.8. The statistical analysis documented an increased occurrence of the alpha and beta rhythms during NREM sleep in FSHD patients with pain. Significant correlations were observed between the alpha/delta power ratio during NREM sleep and pain measures. Conclusions. Chronic musculoskeletal pain is frequent in FSHD patients, and it represents a major mechanism of sleep disruption.
PubMed, 1990
One of the fundamental dynamics of psychic adaptation to both intra-psychic and relational stimul... more One of the fundamental dynamics of psychic adaptation to both intra-psychic and relational stimuli is the defense mechanism of repression in correlation with that of isolation. Our work is concerned with testing whether the use of these mechanisms can constitute, in the case of MS patients, one of the factors which would explain various psychological reactions which are inadequate or pathological. It is to be expected that the trend of these defense mechanisms will be significantly altered in the case of MS patients. In our research we evaluated the Rorschach's Index of Repressive Style (Levine and Spivack, 1964) and the Index of Isolation (Crisi and Caviglia, 1987). The experimental group consisted of 40 MS subjects (20 males and 20 females, age range 20-47) not exceeding level 5 on Kurtzke's Disability Scale. 40 healthy subjects (20 males and 20 females, age range 22-50) were used as a control group. The MS group showed more severe signs of repression than the control group; the MS group showed also more severe signs of activation of the defense mechanism of isolation.
PubMed, May 3, 2005
The neuroendocrine system, which plays an important role in regulation of mood, is dysfunctional ... more The neuroendocrine system, which plays an important role in regulation of mood, is dysfunctional in patients suffering from mood disorders. In order to improve the quality of life for patients, additional research is needed to define clinical implications of neuroendocrine dysfunction in mood disorders. It would be important to define which specific hormonal responses that are blunted in affective disorders contribute to mood symptoms and which medications that normalize neuroendocrine function are conditioning the impact of mood symptoms. Consideration and evaluation of endocrine status result important in psychiatric patients, both to ensure proper diagnosis and adequate treatment.
Elsevier eBooks, 2019
Abstract Schizophrenia is a major mental disorder characterized by hallucinations, delirium, beha... more Abstract Schizophrenia is a major mental disorder characterized by hallucinations, delirium, behavioral disorders, and a variable range of chronic persistent symptoms. The mainstay in the pharmacologic treatment of schizophrenia is represented by antipsychotic agents. Nevertheless, an increasing body of evidence suggests that supplementation with omega-3 fatty acids may improve the course and symptoms of schizophrenia. Omega-3 fatty acids are necessary for the human organism to develop and function optimally, in maintaining normal physiological conditions, and, consequently, in human health. Therefore, its intake is very important through all stages of life. The current paper discusses the growing body of research examining the relationship between schizophrenia and omega-3 fatty acids that supports the efficacy of polyunsaturated fatty acids as a supplemental treatment.
The recent review by Pratoomsri et al 1 on the use of oxcarbazepine (OXC) in the treatment of bip... more The recent review by Pratoomsri et al 1 on the use of oxcarbazepine (OXC) in the treatment of bipolar disorder (BD) requires comment. The authors summarize case reports, retrospective chart reviews, open prospective studies, and double-blind studies reporting the efficacy and effectiveness of OXC in treating BD. Nevertheless, they fail to show the many biases in these reported studies. For example, they report the 2 double-blind, multicentre trials of 2 weeks' duration comparing OXC with haloperidol and lithium, respectively, in patients with acute mania. 2 Although OXC and the comparator drug were of equal efficacy in both studies, these studies were limited by relatively small sample sizes, lack of placebo control, and meager descriptions of study designs and outcomes. 3 Besides, in the study by Hummel et al, 4 the individual courses and scores of the Young Mania Rating Scale suggest a certain antimanic property of OXC only in patients with low-to-moderate manic episodes. Thus the usefulness of OXC monotherapy in severe mania appears doubtful.
Pain Research & Management, Nov 3, 2019
Restless legs syndrome (RLS) is characterized by unpleasant sensations generally localized to leg... more Restless legs syndrome (RLS) is characterized by unpleasant sensations generally localized to legs, associated with an urge to move. A likely pathogenetic mechanism is a central dopaminergic dysfunction. e exact role of pain system is unclear. e purpose of the study was to investigate the nociceptive pathways in idiopathic RLS patients. We enrolled 11 patients (mean age 53.2 ± 19.7 years; 7 men) suffering from severe, primary RLS. We recorded scalp laser-evoked potentials (LEPs) to stimulation of different sites (hands and feet) and during two different time conditions (daytime and nighttime). Finally, we compared the results with a matched control group of healthy subjects. e Aδ responses obtained from patients did not differ from those recorded from control subjects. However, the N1 and the N2-P2 amplitudes' night/day ratios after foot stimulation were increased in patients, as compared to controls (N1: patients: 133.91 ± 50.42%; controls: 83.74 ± 34.45%; p � 0.016; Aδ-N2-P2: patients: 119.15 ± 15.56%; controls: 88.42 ± 23.41%; p � 0.003). ese results suggest that RLS patients present circadian modifications in the pain system, which are not present in healthy controls. Both sensory-discriminative and affective-emotional components of pain experience show parallel changes. is study confirms the structural integrity of Aδ nociceptive system in idiopathic RLS, but it also suggests that RLS patients present circadian modifications in the pain system. ese findings could potentially help clinicians and contribute to identify new therapeutic approaches.
Psychological Disorders and Research, 2021
Handwriting analysis dates back to many centuries ago. Graphology is a discipline that investigat... more Handwriting analysis dates back to many centuries ago. Graphology is a discipline that investigates personality and intellect of the individual through writing, indeed handwriting of the human being is an expression of his or her essence. Graphology examines a writing in order to extract unfiltered information about innate temperament and subconscious nature of who has traced the letters. The present paper highlights the historical and methodological approaches of graphology and its usefulness in human knowledge in order to give a glimpse of the complexity of this discipline. We have gradually focused on the description of the various fields with which, over time until today, the graphologists have dealt according to experimental and epistemological methodologies along a spectrum that ranges from studies on the character, the neuronal and biological correlates, the use in the forensic field, until to the contributions to career counseling and personnel selection. This manuscript aim...
Archives of neurology, Jun 1, 2008
AHEALTHY 28 YEARold man developed acute pharyngitis and fever. Three days later he experienced a ... more AHEALTHY 28 YEARold man developed acute pharyngitis and fever. Three days later he experienced a prolonged generalized tonicclonic seizure that required admission into the intensive care unit. Neurological examination findings were unremarkable. Analysis of his cerebrospinal fluid identified herpes simplex DNA. Other laboratory findings from cerebrospinal fluid analysis were a glucose level of 69 mg/dL; a protein level of 44 mg/dL; and leukocytes, 18/mm3. Results from electrocardiographic monitoring showed episodes of progressive slowing of the heart rate that lead to severe bradycardia (30 beats/min) and sometimes brief periods of asystole. These episodes lasted 1 to 2 minutes. Interictal electrocardiographic findings were normal, in particular long QT syndrome was ruled out. Electroencephalographic monitoring revealed nonconvulsive epileptic seizures, withoutmotormanifestations. Epileptic discharges arose from the right temporal lobe and spread contralaterally (Figure 1). These seizures recurred up to 20 times per day and were controlled with high doses of valproate sodium and carbamazepine. Magnetic resonance imaging showed a small area of abnormal signal below the right insular cortex (Figure 2). In 6 weeks the patient fully recovered without any neurological impairment. Antiepileptic treatment was continued, and he experienced no seizures in the following 6 months
Neurological Sciences
We assessed the health-related quality of life (HRQoL) of patients with myasthenia gravis (MG) an... more We assessed the health-related quality of life (HRQoL) of patients with myasthenia gravis (MG) and correlated it with the physician's measurements of MG. Patients with MG were evaluated by means of (1) self-administered questionnaires, (2) clinical examination, (3) Osserman classification, (4) anti-AChR antibody, and (5) neurophysiology. Relationships between patient-oriented assessment and conventional clinical-neurophysiological and serological findings were evaluated. A total of 46 patients, inpatients and outpatients (mean age 50.7 years, range 11-77 years, 17 males, 29 females) with MG diagnosis were studied. The Osserman scale and clinical examination findings were significantly related to the physical aspects of HRQoL. Mental aspects of the quality of life were not progressively involved as muscle deficit progressed, but even in a mild clinical picture, the mental aspects were deteriorated. Patient-oriented measures proved that the patient's quality of life was impair...
European Journal of Pediatrics, 1978
Forty-one cerebrospinal fluid (CSF) specimens from children were investigated with a radioimmunoa... more Forty-one cerebrospinal fluid (CSF) specimens from children were investigated with a radioimmunoassay for their content of myelin basic protein (BP). Eight specimens were regarded as BP-positive (BP is greater than or equal to 1.0 ng/ml). Twenty-nine were BP-negative and 4 could not be analyzed because of an excessive protein content. The BP-positive samples were from 6 children with evidence of severe acute brain damage leading to death in 5 cases: i.e., 2 term newborns with perinatal asphyxia, a 4 week-old child with severe convulsions, a 3 year-old boy with hypoxia due to laryngitis, and a 12 year-old girl with encephalitis. One preterm baby survived severe hypoxia and developed hydrocephalus shortly afterwards. We conclude that BP becomes detectable in CSF of newborns and older children under certain pathological conditions, and that the presence of BP in CSF may be associated with severe brain tissue destruction.
Neurological Sciences, Oct 1, 2001
ABSTRACT We assessed the health-related quality of life (HRQoL) of patients with myasthenia gravi... more ABSTRACT We assessed the health-related quality of life (HRQoL) of patients with myasthenia gravis (MG) and correlated it with the physician's measurements of MG. Patients with MG were evaluated by means of (1) self-administered questionnaires, (2) clinical examination, (3) Osserman classification, (4) anti-AChR antibody, and (5) neurophysiology. Relationships between patient-oriented assessment and conventional clinical-neurophysiological and serological findings were evaluated. A total of 46 patients, inpatients and outpatients (mean age 50.7 years, range 11-77 years, 17 males, 29 females) with MG diagnosis were studied. The Osserman scale and clinical examination findings were significantly related to the physical aspects of HRQoL. Mental aspects of the quality of life were not progressively involved as muscle deficit progressed, but even in a mild clinical picture, the mental aspects were deteriorated. Patient-oriented measures proved that the patient's quality of life was impaired especially with regard to physical aspects. Our data demonstrated that clinical measurements are related to the HRQoL. The results may be useful in developing a disease-specific patient-oriented tool.
Journal of the Neurological Sciences, 1997
Introduction: Progressive External Ophthalmoplegia (PEO) is a mitochondrial disease, in which the... more Introduction: Progressive External Ophthalmoplegia (PEO) is a mitochondrial disease, in which the most prominent clinical feature is the progressive weakness of extraocular muscle.
Objective: The aim of the present study was to study the occurrence and the characteristics of sleep-related breathing abnormalities in a wide population of genetically and biochemically proven PEO, by means of full night polysomnography.
Methods: 50 consecutive patients (21 men and 29 women, ranging from 18 to 69 years, mean age 38.2±18.2 years) affected by PEO were studied. PEO was diagnosed on the basis of clinical and laboratory
features. All patients underwent a quadriceps or deltoid muscular biopsy, with subsequent morphological and biochemical study. All patients included presented morphological abnormalities specific for
mitochondrial diseases. All patients underwent a complete history and physical examination, a brain MRI, routine eEEG, EKG, EMG. No patient had symptoms or signs of diurnal respiratory impairment. One full-night,
laboratory-based polysomnography was performed in order to evaluate sleep structure and respiratory pattern.
Results: 30 patient (60%) presented PSG findings consistent with SDB; respiratory abnormalities consisted in obstructive apneas (44%), sleep related hypoventilation (17%), central apneas (6%) or an overlap of these conditions.
Conclusions: Our data suggest that PEO patients have a high prevalence of SDB. A screening of sleep-related respiratory disturbance should be part of the routinary assessment of patients with a diagnosis of ME.