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Biomedical subjects

T Evangelista

Publications and source records attributed to T Evangelista.

At least 19 recordsLinked to original sources
PubMed2001

Sympathetic sudomotor function and amyotrophic lateral sclerosis.

INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neuron cells in the cerebral cortex, brain stem and spinal cord. Autonomic nervous system involvement is not a recognized feature of the disease; nonetheless, autonomic dysfunction has been reported in severely affected patients. The aim of this study was to evaluate sympathetic sudomotor function in ALS patients, employing the sweat imprint test. METHODS: Twenty-four ALS patients and 25 controls, matched for sex and age, were included. In total, 34 hands and 35 feet in controls, and 29 hands and 30 feet in the ALS population, were investigated. RESULTS: No inter-side difference was found in controls or in ALS patients. The mean number of sweat drops/cm2 was comparable in both populations. However, six ALS patients had a lower count on the hand than on the foot, which was never observed in controls. Furthermore, in the ALS population, five hands and three feet showed values below the lower limit of normal. The abnormalities were more frequent in very weak limbs, and could be ascribed to lack of use. CONCLUSION: Although significant sudomotor hypofunction does not occur in ALS, mild subclinical changes can be observed in weak limbs.

Adult↗
PubMed2000

New transthyretin mutation V28M in a Portuguese kindred with amyloid polyneuropathy.

A 62-year-old Portuguese man, with no history of familial amyloid polyneuropathy (FAP), and a 2(1/2)-year history of tingling in the toes and sexual dysfunction was found neurophysiologically to have a sensory-motor axonal polyneuropathy. Autonomic tests showed slight sympathetic and marked parasympathetic involvement. Heart, kidney, and eyes were normal. Single strand conformation polymorphism (SSCP) mutation analysis for the transthyretin (TTR) gene was performed. The SSCP pattern suggested the presence of a mutation in exon 2, but was different from the pattern observed for a control representing the most common TTR mutation associated with FAP, i.e., TTR V30M. DNA sequencing analysis revealed an A-to-G transition in the first base of codon 28 normally encoding a valine, giving rise to a methionine residue. The presence of this extra methionine was confirmed by peptide mapping and mass spectrometry analysis. Biopsy of nerve and skin of the propositus showed amyloid deposits that were immunoreactive for TTR. This is a new variant TTR related to late-onset amyloid neuropathy with autonomic dysfunction. This case confirms that TTR mutation screening should be considered in patients with a clinical disorder consistent with amyloid neuropathy even in the absence of a family history.

Adult↗
PubMed1999

Respiratory disorders in ALS: sleep and exercise studies.

Sleep disruption in ALS/MND is related to hypoventilation and nocturnal O(2) saturation. Maximal inspiratory pressure (PI(max)) proved sensitive in predicting nocturnal O(2) saturation. However, PI(max) is highly dependent on patient collaboration; on the other hand Mouth Occlusion Pressure (MOP) is a reliable, non-volitional parameter index of central respiratory drive. Since exercise testing (ET) is also part of the assessment of ventilatory regulation the authors aimed to determine whether MOP and ET are sensitive and reliable parameters predictive of nocturnal O(2) saturation and clinical evolution. We conducted a Polysomnographic (PSG) study in two groups of 14 patients, selected according to their MOP level. Patients performed at admission an ET, Respiratory Function tests (RFT) and clinical evaluation with Norris spinal and bulbar scores (SNS and BNS). All patients in Group I (Low MOP) had decreased O(2) saturation during ET (P<0.001). Correlation study showed correlation between ET and MOP (R=0.6); PI(max) slope and PE(max) slope correlated with ET (R=-0.4; -0.6), respectively. ET also correlated with nocturnal O(2) saturation and SNS slope (R=0.8; -0.5), respectively. SNS and BNS slopes correlated with nocturnal O(2) saturation (R=-0.4; -0.7), respectively. The best correlations found were between MOP slope and BNS slope and SNS slope (R=0.8; 0.7), respectively. The high predictive values of MOP and ET at admission to nocturnal O(2) saturation (predicted value=80%) suggested the need of nocturnal pulse oximetry as a standard procedure. MOP and ET should also be used in evaluation protocols of ALS/MND.

Adult↗
PubMed1999

Can amyotrophic lateral sclerosis patients with respiratory insufficiency exercise?

The authors have shown in a recent paper that survival with amyotrophic lateral sclerosis (ALS) can be increased by the use of non-invasive methods of assisted ventilation (Bipap). However, the progression of muscle weakness was not affected and the quality of life was not positively enhanced. In ALS, reduced physical activity may partially be secondary to alveolar hypoventilation syndrome. This leads to deconditioning of ALS/motor neuron disease (ALS/MND) patients. The authors decided to investigate the possibility of reducing motor decline by exercising these patients to the anaerobic threshold, but simultaneously compensating the respiratory insufficiency with the Bipap STD. We conducted a controlled single blind study, exercising eight consecutive ALS/MND patients and used a control group of 12 ALS/MND patients. The patients were all evaluated during a 1 year period. Respiratory function tests (RFT) were performed at entry and then at 6 month intervals. Barthel, Functional Independent Mobility scale (FIM) and Spinal and Bulbar Norris scores were recorded every 3 months. There was a significant difference between the two groups with respect to FIM scores (P<0.03), but not Barthel scores (P<0.8). A slower clinical course (Spinal Norris score P<0.02) and a significant difference in the slope of the RFT (P<0.008) were observed in the treated group, suggesting that exercise may be beneficial in ALS patients once Bipap is used to control peripheral and muscle oxygenation.

Adult↗
PubMed1999

Multifocal motor neuropathy mimicking motor neuron disease: nine cases.

Multifocal motor neuropathy with persistent conduction block (MMN) is a rare clinical entity, mimicking motor neuron disease (MND). In order to research which are the most frequent nerves and segments where conduction block (CB) can be identified, we reviewed the clinical and neurophysiological data of nine patients with MMN who were studied and followed by the authors. Weakness and muscle atrophy of the dominant hand was the most frequent presentation. Lower limbs were involved later in the disease evolution. The ulnar and median nerves were the most affected nerves. They had conduction blocks mostly at the forearm and at Erb's point-elbow (or above elbow) segments. Both common peroneal and tibial nerves were frequently affected at their distal segments, but proximal segments were also probably involved. The presence of anti-GM1 antibodies was variable, and their determination was not essential for the diagnosis of MMN. Eight patients given IV immunoglobulin therapy had no disease progression. One patient was responsive to corticosteroids. The CB identification in our patients allowed us to clearly distinguish MMN from MND. The good prognosis and need for management with IV immunoglobulin, support the crucial role of a careful neurophysiological study to diagnose this clinical entity.

Adult↗
PubMed1999

Fibrillation and sharp-waves: do we need them to diagnose ALS?

BACKGROUND: Fibrillation/sharp-waves (fibs-sw) are considered an essential neurophysiological marker in Amyotrophic Lateral Sclerosis (ALS). We investigated how frequently an initial electrophysiological (EMG) evaluation, performed in ALS patients, revealed no fibs-sw. METHODS: The initial EMG studies from 68 ALS patients were analysed. The presence of fibs-sw in at least two muscles of each limb and two cranial-innervated muscles was assessed. RESULTS: We observed no fibs-sw in cranial-innervated muscles, and 7/15 bulbar-onset patients had no fibs-sw in limb muscles. Two of 28 upper-limb-onset patients, who had a short history before EMG, showed no fibs-sw. All lower-limb-onset patients had fibs-sw. Generally patients with no fibs-sw had diffuse abundant fasciculations. CONCLUSIONS: The absence of fibs-sw should not necessarily preclude the neurophysiological diagnosis of ALS in bulbar-onset patients. Early affected upper-limb-onset patients might show no fibs-sw, but profuse fasciculations associated with mild to moderate denervation-reinnervation in weak muscles are found.

Adult↗
PubMed1997

[Intravascular surgery in the treatment of peripheral arteriopathies: our experience].

The Authors, through a review of their vascular surgery experience in the treatment of PAOD at the III General Surgery Institute directed by Prof. G. Di Matteo (University, of Rome), focus their attention on endovascular surgery. Initially considered as an effective complement to "traditional surgery" rapidly its role has grown as an effective alternative for a number of vascular patients.

Angioplasty, Balloon↗
PubMed1996

Motor neuron disease presenting with respiratory failure.

Respiratory failure accounts for the majority of deaths in amyotrophic lateral sclerosis (ALS) but only rarely is ALS diagnosed on the basis of respiratory insufficiency. We report four ALS patients presenting with acute respiratory failure. In three patients we have performed EMG needle examination of both hemidiaphragms which showed severe denervation. We reviewed 25 patients previously described presenting with respiratory failure. Almost all patients showed upper limbs weakness and diaphragm involvement; few patients had bulbar dysfunction. The prognosis of these patients is not always in permanent ventilator dependence. Rapidly progressive ventilatory failure may be a striking initial sign of ALS; the main reason is a weakened diaphragm. There are possibilities of significant improvement after a period of rest with ventilatory assistance. In the initial phase of the disease, bulbar dysfunction is not the more common reason of acute respiratory failure.

Aged↗
PubMed1996

Motor neuropathies mimicking amyotrophic lateral sclerosis/motor neuron disease.

We report three patients in whom the initial diagnosis was of possible A myotrophic lateral sclerosis (ALS/MND) according to the 'El Escorial Criteria'. All of them presented with monomelic paresis, atrophy of the paretic muscles and generalised brisk reflexes. The initial electromyograms showed a neurogenic pattern in the limbs with normal sensory and motor conduction velocities. Laboratory evaluation and imagiological investigations were normal in all of them. The previous diagnosis was changed in to demyelinating motor neuropathy with conduction block in 2 patients and tomaculous neuropathy in one after clinical and electromyographic follow-up and nerve biopsy. Patients 1 and 2 were given intravenous immunoglobulin treatment and showed moderate improvement.

Amyotrophic Lateral Sclerosis↗
PubMed1996

Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.

Congenital muscular dystrophies (CMDs) are autosomal recessive muscle disorders of early onset. Approximately half of CMD patients present laminin alpha2-chain (merosin) deficiency in muscle biopsies, and the disease locus has been mapped to the region of the LAMA2 gene (6q22-23) in several families. Recently, two nonsense mutations in the laminin alpha2-chain gene were identified in CMD patients exhibiting complete deficiency of the laminin alpha2-chain in muscle biopsies. However, a subset of CMD patients with linkage to LAMA2 show only partial absence of the laminin alpha2-chain around muscle fibers, by immunocytochemical analysis. In the present study we have identified a homozygous missense mutation in the alpha2-chain gene of a consanguineous Turkish family with partial laminin alpha2-chain deficiency. The T-->C transition at position 3035 in the cDNA sequence results in a Cys996-->Arg substitution. The mutation that affects one of the conserved cysteine-rich repeats in the short arm of the laminin alpha2-chain should result in normal synthesis of the chain and in formation and secretion of a heterotrimeric laminin molecule. Muscular dysfunction is possibly caused either by abnormal disulfide cross-links and folding of the laminin repeat, leading to the disturbance of an as yet unknown binding function of the laminin alpha2-chain and to shorter half-life of the muscle-specific laminin-2 and laminin-4 isoforms, or by increased proteolytic sensitivity, leading to truncation of the short arm.

Amino Acid Sequence↗
PubMed1996

[Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis].

A selective deficiency of a specific laminin isovariant, merosin made of M, B1 and B2 chains, was found in a series of 17 patients affected with congenital muscular dystrophy (CMD). The merosin deficiency was complete in 15 cases, and almost complete in two cases. An overexpression of the laminin A chain was seen in these biopsies, while B1 and B2 chains were normally expressed. Comparison of the clinical data with a series of 18 "merosin-non deficient" cases showed that the "merosin-deficient" cases were forming a more homogenous group than the "non-deficient" one. Hypotonia, contractures, motor development delay were generally more severe in the "merosin-deficient" series of cases. Moreover, white matter alterations were seen in most cases explored by MRI or scan imaging. A genetic linkage with a 6q2 locus, corresponding to the M chain gene localization, was found in a panel of informative families from French and Turkish origin with "merosin deficient" CMD. "Merosin non-deficient" families did not map on this locus. So, the "merosin-deficient" CMD can be considered as a peculiar entity within the group of Congenital Muscular Dystrophies.

Biopsy↗
PubMed1995

Respiratory assistance with a non-invasive ventilator (Bipap) in MND/ALS patients: survival rates in a controlled trial.

Noninvasive ventilatory assistance, in ALS patients, with the bilevel intermittent positive air pressure (Bipap) was studied, in a prospective and controlled trial, by the authors. Twenty ALS bulbar patients, fulfilling El Escorial criteria for probable or definite disease, were selected. For the follow-up all patients were submitted to evaluation with the Norris scale, modified Barthel score and an analog scale of life satisfaction, every 3 months. All patients were also submitted to respiratory functional testing (RFT). Ten of these patients were treated with palliative management (group I), the remaining ten patients received Bipap support (group II). Clinical evolution curves and clinical parameters were not statistically different in both groups, except for the percentage of actual predicted value of vital capacity (p < 0.03), showing a more advanced disease in group II patients. Analog scale of life satisfaction showed improvement in the group II, even after the beginning of respiratory insufficiency, though without significance probably due to the small sample size (p < 0.1). Since 6 patients in group II are still alive survival rates were compared with log rank test considering cumulative survivals with Kaplan-Meier estimates. Total survival and survival from diurnal abnormalities in gas exchange (survival 1) were significantly longer for group II (p < 0.006 and p < 0.0004, respectively). In spite of the small number of patients, preliminary results strongly support the importance of BIPAP in ALS patients, though further studies must go on in order to optimize the best time for introducing Bipap.

Aged↗
PubMed1995

Phrenic nerve conduction in amyotrophic lateral sclerosis.

Respiratory failure accounts for the majority of deaths in amyotrophic lateral sclerosis (ALS). The main cause of respiratory failure is probably diaphragmatic weakness. In order to test the correlation between respiratory impairment and diaphragmatic function we studied the phrenic nerve conduction in 31 ALS patients. Our results showed that patients with respiratory symptoms, and decreased forced vital capacity with arterial PaO2/PaCO2 abnormalities, had more commonly increased phrenic nerve latencies or absent response due to severe diaphragm denervation than ALS patients without respiratory complaints. Diaphragmatic paresis commonly occurs during the course of ALS, and its presence and severity can be assessed by phrenic nerve studies. It is important to recognize the development of impairment in diaphragmatic function in order to prevent life-threatening complications.

Adolescent↗
PubMed1995

[Spinal epidural empyemas].

We report ten patients harbouring spinal epidural abscess, aiming to evaluate the factors that may lead to an early diagnosis and that can eventually influence the prognosis. There were seven males and 3 females, with ages comprised between 17 and 66 years. Abscesses were localised mainly in the dorsal region. The most important predisposing factors were infections or other disorders know to be related with compromise of the immunological system. Back pain with or without signs of spinal cord involvement was the most frequent clinical presentation. The pretreatment average time was 16,3 days. Staphylococcus aureus was the most commun organism isolated. Erythrocyte sedimentation rate (ERS) was uniformly elevated, being the most important laboratory data for the diagnosis of this situation. Diagnosis was frequently made on clinical grounds but it was always confirmed by myelography with computed tomography or magnetic resonance. All patients were submitted to surgical drainage. Two patients recovered totally, 5 partially, 2 did not recover at all and 1 died. We conclude that the prognosis is related to the surgical delay and that it depends on the identification of the predisposing factors and the recognition of a clinical picture of spinal cord involvement associated to an elevated ESR. Magnetic resonance is the most reliable imaging technique.

Abscess↗
PubMed1994

Rapamycin inhibits corneal allograft rejection and neovascularization.

OBJECTIVE: To investigate the immunosuppressive effect of rapamycin in prolonging allograft survival in the rat model of orthotopic allogeneic penetrating keratoplasty. DESIGN: Thirty inbred Lewis rats received corneal allografts from Brown Norway donors. Animals were divided into two rapamycin treatment groups and one allogeneic control group. RESULTS: By the second week after surgery, all of the control animals had experienced allograft failure due to allograft rejection. However, allografts in seven of 10 animals in the low-dose treatment group and allografts in seven of nine animals in the high-dose treatment group remained clear. In addition, corneal neovascularization was markedly reduced in the treated animals. CONCLUSIONS: The systemic administration of rapamycin prolongs corneal allograft survival and significantly inhibits the neovascular component of rejection in the rat model of orthotopic allogeneic penetrating keratoplasty.

Animals↗
PubMed1994

Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping.

Congenital muscular dystrophies (CMD) are autosomal recessive, heterogeneous disorders. The commonest forms are the Fukuyama CMD (FCMD), associated with mental retardation and structural brain anomalies, and classical (occidental) CMD, with pure muscle expression. FCMD has been localized to chromosome 9q31-q33. Following the discovery of merosin deficiency in some CMD cases, we have localized, by homozygosity mapping and linkage analysis (Zmax = 5.6; theta = 0.0 for marker AFM127xb2) in four merosin-negative families a CMD gene in a 16 cM region of chromosome 6q2 in the region of the laminin M chain gene. In three consanguineous, merosin-positive, CMD families there was no linkage to either chromosome 6q2 or 9q31-q33.

Chromosome Mapping↗
PubMed1994

Congenital muscular dystrophy with merosin deficiency.

Congenital muscular dystrophy is one of the most frequent and severe childhood muscular dystrophies. Several forms of this disease have been described. The form associated with marked central nervous system disturbances, frequent in Japan, is known as Fukuyama congenital muscular dystrophy and was recently linked to chromosome 9. The most frequent form observed in occidental countries appears to be clinically characterized by exclusive involvement of skeletal muscle, and has been identified by clinico-pathological features which are often fallacious. A predominant histopathological feature is the marked increase in endomysial collagen tissue. We investigate whether laminin, a major component of the extracellular matrix, which is linked to the subsarcolemmal cytoskeleton by a large oligomeric complex of dystrophin-associated glycoproteins, could be involved in this form. We observed a specific absence of merosin, the laminin M chain, in 13 patients affected by classical non-Japanese form of congenital muscular dystrophy. This result allows the precise identification of a particular form of congenital muscular dystrophy and gives a clue to understanding its molecular pathogenesis.

Child↗