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Aims: To describe clinical and genetic findings in an Italian family affected by Best disease. Methods: Five related patients underwent a complete ophthalmological assessment; genetic testing was per- formed by single-strand conformation polymorphism analysis and direct sequencing of the BEST1 gene. Results: In three of five family members, the sequence analysis of the BEST1 gene revealed a single Phe-to-Leu transition at nucleotide 305 associated with clinical evidence of Best disease. Surprisingly, the electro-oculogram was normal in all affected patients. Conclusion: This study reveals a de novo mutation in the BEST1 gene never described before, sustaining the autosomal-dominant pattern of inheritance of the disease. Clinical evaluation showed phenotypic variability between affected members. In addition, these data suggest that a normal electro-oculography CEOG) does not rule out a diagnosis of Best disease, supporting instead the crucial role of molecular analysis. [ABSTRACT FROM AUTHOR]

The aim of this study was to evaluate the impact of electrophysiological (EDX) tests in the clinical management and diagnosis of patients, and the appropriateness of the referral diagnosis. A study was carried out in three electrodiagnostic services in the Torino area, over a 12-month period. In our study 3,900 individuals (2,340 females, 1,560 males) were evaluated. Patients underwent EDX examinations including nerve conduction study, electromyography and repetitive stimulation test. Most patients had been sent for EDX tests by specialists. Specialists suspected mainly polyneuropathy, whilst general practitioners suspected mainly carpal tunnel syndrome. Seventy-two percent of the requests were correctly formulated, 55% by general practitioners and 77% by specialists. There was a concordance between the results of the EDX tests and diagnostic hypothesis 40% of the time. This study confirms the usefulness and diagnostic impact of EDX examinations and evidences the amount of time and resources wasted as a result of incorrect or incomplete requests. [ABSTRACT FROM AUTHOR]

The ITMS telecardiology network started in April 1995. Over nine years, about 7000 peripheral medical users (mainly general practitioners), who were experienced in using transtelephonic electrocardiography and who were spread throughout Italy, conducted teleconsultations with the Telecardiology Centre. A total of 106,942 patients were evaluated. Teleconsultation was carried out for non-cardiac symptoms or routine control for 30,444 patients (28%) and for symptoms suggestive of heart disease for 76,498 (72%). After teleconsultation, 61,908 patients (58%) were reported to have no heart disease, 27,947 patients (26%) had their drug dose adjusted and remained at home, 11,503 patients (11%) were sent to their cardiologist for further investigations and 5584 patients (5%) were urgently hospitalized. Among the hospitalized patients, the echocardiogram demonstrated an ST-elevation coronary syndrome in 1785 patients (32%), a non-ST-elevation coronary syndrome in 2236 (40%) and a life-threatening arrhythmia in 1354 (24%). Telecardiology improves the decision making of general practitioners, avoids unnecessary hospitalizations, reduces the time before treatment in cardiac emergencies, rationalizes health-care costs and promotes home care. [ABSTRACT FROM AUTHOR]

Background: Critical illness polyneuropathy and myopathy (CIPNM) is a frequent neurological manifestation in patients with acute respiratory distress syndrome (ARDS) from coronavirus disease 2019 (COVID-19) infection. CIPNM diagnosis is usually limited to clinical evaluation. We compared patients with ARDS from COVID-19 and other aetiologies, in whom a neurophysiological evaluation for the detection of CIPNM was performed. The aim was to determine if there were any differences between these two groups in frequency of CINPM and outcome at discharge from the intensive care unit (ICU)., Materials and Methods: This was a single-centre retrospective study performed on mechanically ventilated patients consecutively admitted (January 2016-June 2020) to the ICU of Careggi Hospital, Florence, Italy, with ARDS of different aetiologies. Neurophysiological evaluation was performed on patients with stable ventilation parameters, but marked widespread hyposthenia (Medical Research Council score <48). Creatine phosphokinase (CPK), lactic dehydrogenase (LDH) and mean morning glycaemic values were collected., Results: From a total of 148 patients, 23 with COVID-19 infection and 21 with ARDS due to other aetiologies, underwent electroneurography/electromyography (ENG/EMG) recording. Incidence of CIPNM was similar in the two groups, 65% (15 of 23) in COVID-19 patients and 71% (15 of 21) in patients affected by ARDS of other aetiologies. At ICU discharge, subjects with CIPNM more frequently required ventilatory support, regardless the aetiology of ARDS., Conclusion: ENG/EMG represents a useful tool in the identification of the neuromuscular causes underlying ventilator wean failure and patient stratification. A high incidence of CIPNM, with a similar percentage, has been observed in ARDS patients of all aetiologies., (© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

The article reports on the development of protocols in a clinical capacity to evaluate the outcomes of various treatments. It mentions that protocol has been developed at Posture Analysis Lab and IRCCS San Raffaele Pisana Gait. Further it focuses on development of protocols for oral dyspraxia evaluation, and for evaluating upper limb movement during obstacle avoidance.

Background: The region of Sardinia, Italy is known internationally for the production of cheeses made from ewe's milk. Although the use of automated milking equipment is available in ewe dairy operations, traditional hand milking is still performed on many ewe farms. The purpose of this study was to evaluate the prevalence of carpal tunnel syndrome (CTS) among farmers that manually milk ewes., Methods: Worker demographics, upper limb symptoms, and electrophysiologic studies were obtained on 76 ewe farmers recruited from a random sample of 109 in northern Sardinia. Characteristic hand symptoms and electrophysiologic studies were used in the case definition of CTS., Results: Of the 76 farmers evaluated, 42 (55.3%) fit the case definition of CTS in at least one hand. Assuming that all non-respondents did not have CTS, the CTS prevalence ratio would have been 38.5% (42/109) among the randomized sample of ewe farmers., Conclusions: These findings suggest that CTS is a significant occupational health issue for ewe farmers that continue the traditional methods of manual milking. The recent trend in automated ewe milking machines may help reduce the prevalence of CTS among the next generation of Italian ewe farmers., (Copyright © 2012 Wiley Periodicals, Inc.)

Objectives: The aim of the present study was to retrospectively assess the prevalence of neurological involvement and the clinical patterns of presentation in a monocentric cohort of patients with BD, who have been followed in the last twenty years at our centre., Methods: One hundred and seventeen patients were retrospectively studied. The male/female ratio was 1.6:1, with a mean disease duration of 11±5 years. Their mean age was 42±9 years (min:18, max:77), while the mean age at disease onset was 25±4 years (min:10, max:58). The mean ± SD duration of follow-up at our centre was 7±2 (min:1, max:11) years., Results: Neurological involvement was observed in 38% (44 patients, 36 males and 8 females; mean age at onset 25±4 years). Organic brain involvement, demonstrated by MRI was due to ischaemic pons-mesencephalon lesions in 19 patients and to meningoencephalitis with brainstem involvement in 16. Peripheral nervous system involvement was confirmed by electroneuromyographic study in 4 patients, and consisted of peripheral neuropathy prominent in the lower extremities in all cases; we have also observed only 2 cases of endocranial hypertension and 3 BD patients suffering from pulsatile, severe headache, without abnormal neurological examination, responding only to medium-high doses of steroids. Excluding peripheral neuropathy and isolated headache, the onset of CNS involvement (total prevalence: 32% of the cohort) was observed in 2 patients within the first year from the onset of BD, in 4 cases between the first and the third year, in 24 between the third and the fifth year, 7 between the fifth and the tenth year; none presented a CNS involvement after the first 10 years of disease., Conclusions: Neuro-BD is more frequent in young males and it never represents a presenting feature of the disease. The most frequent time of onset of neurological involvement seems to be within the first 10 years of disease. Since neurological involvement may result in severe functional disability or be a life-threatening disease, a careful follow-up during the first years after onset is recommended.

Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2) gene have been associated with different clinical phenotypes including Silver syndrome/spastic paraplegia 17, distal hereditary motor neuropathy type V, and Charcot-Marie-Tooth disease type 2 (CMT2) with predominant hand involvement. We studied an Italian family with a CMT2 phenotype with pyramidal signs that had subclinical sensory involvement on sural nerve biopsy. Direct sequencing analysis of the BSCL2 gene in the three affected siblings revealed an S90L mutation. This report confirms the variability of clinical phenotypes associated with a BSCL2 Ser90Leu mutation and describes the first Italian family with this mutation.

The aims of this study were to evaluate differences between women with carpal tunnel syndrome (CTS) and symptom onset in pregnancy (pregnancy cohort) and women with idiopathic CTS (control cohort) and to report changes in symptoms assessed by the Levine Boston Questionnaire (BQ) administered by phone 3 years after diagnosis. Forty-five pregnant women with CTS (mean age 32 +/- 3.9 years) and 90 age-matched women with idiopathic CTS were consecutively enrolled. Diagnosis was based on clinical findings and abnormal transcarpal median nerve conduction. Univariate analysis showed that the pregnancy cohort had a shorter duration of symptoms, higher frequency of bilateral symptoms and non-blue-collar workers, and lower clinical and electrophysiological severity evaluated by ordinal scales and BQ scores. Multivariate analysis showed that the pregnancy cohort had a probability of improvement of symptoms 3-4 times greater than the control cohort. The need for further treatment depended on BQ functional score; 50% of pregnant women had tolerable CTS symptoms and 85% did not require further treatment 3 years after diagnosis, whereas 72% of women in the control cohort did not require long-term therapy. The probability of need for CTS treatment did not depend on the cohort, but only on the severity of hand disability.

The authors report an Italian family with autosomal-dominant Charcot-Marie-Tooth disease (CMT) in which there were giant axons in the sural nerve biopsy. Linkage to the known CMT2 loci (CMT2A, CMT2B, CMT2D, CMT2F) and mutations in the known CMT2 genes (Cx32, MPZ, NEFL), GAN, NEFM, and CMT1A duplication/HNPP deletion were excluded. This family with CMT and giant axons has a pathologic and genetic entity distinct from classic CMT.

The authors assessed the prevalence of neuropsychiatric manifestations occurring in patients with systemic lupus erythematosus (NPSLE), according to the American College of Rheumatology standardized definitions for NPSLE, and evaluated the relationship between NPSLE and antiphospholipid antibodies. Sixty-one consecutive SLE patients were studied. Neuropsychiatric manifestations consistent with the diagnosis of NPSLE occurred in 44 (72%). Patients with NPSLE showed significantly higher levels of anticardiolipin antibodies.

Objective: The authors evaluated the incidence and long-term prognostic factors of Guillain-Barré syndrome (GBS) in a prospective, population-based study., Methods: Patients with GBS diagnosed according to National Institute of Neurological and Communicative Disorders and Stroke criteria in the 2-year period 1995 to 1996 in two Italian regions were prospectively followed up for 2 years after onset of GBS., Results: A total of 120 patients were found, corresponding to a crude annual incidence rate of 1.36/100,000 population (95% CI, 1.13 to 1.63). A total of 7 (5.8%) patients, all but one with axonal or mixed EMG pattern, died acutely within 30 days from the onset of the disease. Acute mortality was due to respiratory involvement and intensive care unit complications. In multivariate analysis, a worse 2-year outcome (Hughes score >or=2) was related to a higher Hughes grade at nadir, axonal or mixed EMG, age >or=50 years, and absence of respiratory infections preceding GBS. The persistence of disability 2 years after the acute phase was related to axonal involvement and a worse status at nadir., Conclusions: After adjustment to US population, the incidence rates for GBS from different countries showed no significant differences. Both acute mortality and long-term disability in GBS seem to be related to an axonal involvement and a Hughes grade >or=2 at nadir.

In a follow-up of carpal tunnel syndrome (CTS) after pregnancy, the Italian CTS Study Group prospectively studied 63 pregnant women with multiple measurements of CTS symptoms. Fifty-four percent of women with CTS symptoms during pregnancy had symptoms 1 year later. Patients with onset of CTS symptoms early during pregnancy are less likely to improve after delivery.

The Italian CTS Study Group performed a wide multicentric and multiparametric study to quantify the increase of electrodiagnostic sensitivity using an extended neurophysiological protocol and particularly segmental and comparative tests. The study also evaluated the clinical features of carpal tunnel syndrome (CTS) diagnosed by these tests, using validated physician- and patient-oriented measurements. The study group was composed of 740 patients for a total of 1123 idiopathic CTS hands. Overall, the sensitivity of standard tests (median digit-wrist sensory conduction velocity and wrist-thenar distal motor latency) was 83.5%. Comparative/segmental tests disclosed abnormal findings in a further 11.4% of cases, providing CTS electrodiagnosis in about 7 of 10 "standard negative" cases. The overall sensitivity of the electrodiagnostic protocol was 94.9%. The CTS population diagnosed by segmental/comparative tests had a clinical picture characterized by a high percentage of pain, and severe discomfort but no limitation in functional daily activity. Our data confirm the usefulness of a complete neurophysiological assessment by using segmental/comparative tests when standard tests yield normal results.

We report the clinical, serological, and neurophysiological findings in seven patients with foodborne botulism caused by ingestion of black olives in water. The clinical picture was characterized by mild symptoms with a long latency of onset and by involvement of cranial and upper limb muscles; only one patient, a child, developed respiratory failure. Spores of Clostridium botulinum were found in stools in some but not all cases. Conventional neurophysiological tests had low sensitivity; abnormal findings were present only in the patient with severe clinical involvement, in whom compound muscle action potentials (CMAPs) appeared reduced. Repetitive nerve stimulation at a high rate showed pseudofacilitation and not true posttetanic facilitation, but single-fiber electromyography (SFEMG) showed abnormalities of neuromuscular transmission in every case. Neurophysiological evaluation, particularly SFEMG, is important because it allows rapid identification of abnormal neuromuscular transmission while bioassay studies are in progress., (Copyright 1999 John Wiley & Sons, Inc.)

The economic trend in our country, as in other countries, now requires us to pay more attention to the social and economic aspects of health. Therefore, it is important to evaluate the diagnostic pathway and the socioeconomic aspects of pathologies. The Italian CTS Study Group performed a wide multicentre and multidimensional study (through a patient-, physician- and neurophysiologically oriented evaluation) on 461 idiopathic CTS patients to evaluate the clinical-neurophysiological picture and the diagnostic pathway. The whole population and the differences between the populations enrolled in the neurophysiological centres of the northern, central and southern parts of Italy were analysed. This study provided new and interesting information. As concerns the whole population, we observed different diagnostic pathways in relation to the level of schooling. As concerns the comparison of the populations, the southern centres have a population of CTS patients with higher frequency of hand stress and more severe nerve impairment.