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O Combarros

Publications and source records attributed to O Combarros.

At least 73 records · Page 4Linked to original sources
PubMed1989

The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy type I.

One hundred and thirty two individuals at risk for hereditary motor and sensory neuropathy (HMSN) type I from 11 unrelated families were evaluated by physical examination. Motor conduction velocity (MCV) studies of median and/or peroneal nerves were performed on 99 of them. Seventy-three subjects were found to be affected. In all age categories including the first decade of life, the ratio of affected individuals at risk did not significantly differ from the expected 1:1 ratio; that is, penetrance of the gene was complete. The majority of affected members in the first decade had no clinical features considered diagnostic of peroneal muscular atrophy syndrome, and full clinical expression developed in the second decade. Marked slowing of MCV was already present in the early years of life, even as young as 6 months. Moreover serial MCV studies carried out throughout the first year of life in an affected girl showed no physiological increase in conduction velocity. For purposes of genetic counseling, our experience suggests that, starting from 6 months of age, a clinically and electrophysiologically normal subject has a zero risk of having inherited the HMSN type I gene. However given the limited numbers in this series, infants at risk with normal clinical evaluation and MCVs should be followed up yearly up to 5 years of age.

Adolescent↗
PubMed1988

Localized CNS brucellosis: report of 7 cases.

Seven patients with brucellar infection localized in the central nervous system (CNS) are reported. This series represent 3.5% of all brucellosis cases in our hospital. There was a conspicuous absence of systemic signs and symptoms. The clinical course was characteristically protracted. Meningitis (acute, chronic, transient and recurrent) and progressive myeloradiculopathy were the 2 clinical patterns. Cranial nerve neuropathy was frequent, eight nerve involvement being present in 4 cases; transitory ischemic attacks and subarachnoid haemorrhage occurred in 2. Routine laboratory determinations were negative or non-specific. Cerebrospinal fluid (CSF) findings included hypoglycorrhachia, lymphocytic pleocytosis and hyperproteinorrhachia. There was also a remarkable increase in the gamma-globulin and IgG values with morphology of oligoclonal bands in CSF electrophoresis. Brucella agglutination titers were low or absent in serum and/or CSF. By contrast, Coombs tests were always positive and higher titers were found in serum and CSF. After treatment a persistent CSF positive Coombs test at low titers together with an isolated increase in CSF gamma-globulin and IgG values were detected in cured patients. Brucella blood cultures were negative, but CSF cultures were positive in four cases. Rifampin and doxycycline seems to be the treatment of choice. These agents must be maintained at least for 4 months in order to avoid relapses. Corticosteroids may be helpful at the beginning of treatment. Outcome is generally favourable in this disorder. We conclude that clinical and biological characteristics of localized CNS brucellosis are in accordance with those already described in other types of localized brucellosis.

Anti-Bacterial Agents↗
PubMed1988

Motor neuron disease in Cantabria.

Sixty-two patients with motor neuron disease (MND), encompassing amyotrophic lateral sclerosis (ALS), progressive bulbar palsy (PBP) and progressive muscular atrophy (PMA), were selected from within a defined area (Cantabria) in northern Spain, from 1974 to 1985. The annual incidence of MND was 1.01 per 100,000 inhabitants and the prevalence rate was 3.52 per 100,000. The male to female ratio was 1.78:1. Age-specific incidence rates increased with advanced age, with a maximum between 60 and 69 years for males and over 70 years for females. The median age at onset was 60.5 years. The average interval between the onset symptoms and diagnosis was 11 months. Fifty-three per cent of the patients had conventional or pseudopolyneuritic ALS, 36% had PBP and 11% had PMA. There were three familial cases. Two PMA patients had had acute poliomyelitis. The mean duration of the disease was 26.6 months and was significantly longer in males aged under 60 years. The survival rates in 50 patients with adequate follow-up were 18% after 5 years from onset and 6% after 10 years.

Adult↗
PubMed1987

Prevalence of hereditary motor and sensory neuropathy in Cantabria.

One hundred and forty-four patients with hereditary motor and sensory neuropathy (HMSN) were selected from within a defined area (Cantabria) in Northern Spain, from 1974 to 1984. The series comprises 49 index cases and 95 affected relatives. The prevalence ratio was 28.2 cases per 100,000. The results of the study indicate that the majority of the cases were hereditary as a dominant trait. The prevalence for the Type I HMSN cases did not differ from that of Type II cases. Previous population-surveys of these disorders are compared.

Charcot-Marie-Tooth Disease↗
PubMed1986

Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family.

A family with hereditary motor and sensory neuropathy (HMSN) type II is described in which 10 affected and 17 unaffected members in three generations were examined. The peak age of onset was in the second decade. In the youngest generation, the proportion of affected to unaffected individuals at risk significantly differed from the expected 50%. There was slight slowing of conduction velocities in 36% of nerves; however, only 3 out of 10 affected members had entirely normal conduction studies. The amplitude of the sensory potentials of median and peroneal nerves was almost uniformly reduced. In all affected patients electromyography of anterior tibial muscles showed signs of neurogenic involvement. Histological study of two sural nerves and a sciatic nerve and its branches revealed loss of myelinated fibres with a proximal-to-distal gradient in this fibre loss, clusters of small regenerating fibres, and atrophic axons. Postmortem study of the proband showed loss of anterior horn and dorsal root ganglion neurons in the lumbar and sacral segments and degeneration of the fasciculus gracilis. Morphometric evaluation of L5 ventral and dorsal roots revealed a normal number of myelinated fibres, diameter histograms being shifted to the left because of a significant loss of large myelinated fibres and regeneration. These anatomical findings are consistent with the hypothesis that HMSN type II represents a primary neuronopathy affecting motor and sensory neurons.

Adult↗
PubMed1983

Dominantly inherited motor and sensory neuropathy type I. Genetic, clinical, electrophysiological and pathological features in four families.

This report describes the genetic, clinical, electrophysiological and sural nerve biopsy features in 26 affected members and 21 unaffected relatives from 4 families with autosomal dominant inherited motor and sensory neuropathy (HMSN), Type I. In all age categories, the proportion of affected to unaffected individuals at risk did not significantly differ from the expected 50%. The peak age of onset was in the first decade. There was a complete concordance between nerve conduction velocity in the propositi and that in their affected relatives within each family. Marked slowing of conduction velocities was present as early as the age of 2.5 years, while precocious clinical signs and symptoms were quite subtle. Determination of conduction velocity is a valuable aid aid to the early diagnosis of the disease.

Biopsy↗
PubMed1983

Occipital dysplasia and Chiari type I deformity in a family. Clinical and radiological study of three generations.

Three generations of a family affected by a craniocervical malformation (CCM) were subjected to clinical and radiological studies. Occipital dysplasia (OD) and Chiari type I deformity (CD.I) were the main features, inheritance being autosomal-dominant. The malformation was variably expressed; it ranged from OD with basilar impression (BI) to OD without BI and from CD.I with OD to CD.I without obvious osseous malformation. Its pathogenesis, and that of other related familial disorders (Klippel-Feil syndrome and syringomyelia), is discussed, the conclusion being drawn that all were elements of one genetic disorder which finds expression in a very variable sequence. The value of high-resolution CT in the detection of asymptomatic carriers is emphasized.

Adult↗