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Biomedical subjects

A Cabello

Publications and source records attributed to A Cabello.

At least 145 records · Page 8Linked to original sources
PubMedDate not supplied

[Polymyositis in childhood].

INTRODUCTION AND OBJECTIVE: Idiopathic inflammatory myopathies are very rare in infancy. We present five cases of polymyositis in children in which the clinical variability and difficulty in diagnosis that occurs with this disorder are clearly seen, and analyze their response to steroid treatment. CLINICAL CASES: We can distinguish two groups of patients: the first is formed of the case of a two and a half month old baby with generalized hypotonia; and the second includes the other four cases, children of between 2 and 8 years old with weakness, which was mainly proximal. One of the second group later developed juvenile chronic arthritis. In all cases there was a raised CPK and a myopathic EMG, with or without spontaneous muscle activity. Muscle biopsy showed inflammatory myopathy. The first group corresponds to so-called infantile polymyositis which is characterized by generalized hypotonia. The second group includes older children in whom the clinical features of the disorder are similar to those in adults. The association of other autoimmune diseases with infantile polymyositis is exceptional. All cases show more or less improvement with corticosteroids. CONCLUSIONS: The polymyositis are extremely rare before puberty and have a broad clinical spectrum. Congenital cases have been described in infants and in older children. The biopsy results are usually unexpected. Treatment with corticosteroids leads to clinical improvement which may be only partial and is less favorable than in the dermatomyositis.

Adrenal Cortex Hormones↗
PubMedDate not supplied

[Gamma-sarcoglycanopathy:two new cases in a gypsy family family in Spain].

INTRODUCTION: Included under the heading of limb girdle muscular dystrophy is a heterogeneous group of myopathies which share the same phenotype characteristics. The illness is of early onset, progressive and basically involves muscles of the shoulder and pelvic girdles. Recent identification of muscle proteins and the genes which codify them has led to new classification of these conditions according to their genetic characteristics. It is currently accepted that there are two major groups: the dominant and recessive forms. The latter includes type 2C limb girdle muscular dystrophy associated with chromosome 13, where the gene for gamma-sarcoglycan is found. This protein belongs to the glycoprotein complex associated with dystrophin. Recently a new mutation has been identified, the C283Y, exclusive to the Gypsy race, which affects this gene and therefore the alterations in gamma-sarcoglycan produced by it. CLINICAL CASE: We describe two patients, Gypsy brothers, who complained of myopathy, which they had had for some years, compatible with this condition and in whom the C283Y mutation had recently been detected. CONCLUSIONS: We describe another Spanish Gypsy family, all members of which have the characteristic mutation. We emphasize the importance of genetic studies in all cases of myopathy which have not been fully diagnosed.

Biopsy↗
PubMedDate not supplied

[Neonatal hypotonia of muscular origin: analysis of 50 cases].

BACKGROUND: Neonatal hypotonia is a common request for neurological consultation. The aim of this study is to describe the main clinical features of muscular hypotonia in newborns at the light of the histopathological findings. METHODS: We reviewed 50 medical records of hypotonic neonates with abnormal muscular biopsy. In all of the cases, the serum concentration of creatine kinase was determined and biopsies were examined by a qualified neuropathologist. RESULTS: The most frequent muscular cause of neonatal hypotonia was specific congenital myopathies (23 cases), followed by congenital muscular dystrophy (15 cases), congenital myotonic dystrophy (eight cases) and metabolic myopathies (four cases). The most common specific congenital myopathy was fiber type disproportion (10 cases). The association with joint contractures and the involvement of respiratory muscles were frequent; respiratory complications were the first cause of death. CONCLUSIONS: Muscular biopsy is required for the definitive diagnosis of specific congenital myopathies, congenital muscular dystrophy and metabolic myopathies. In congenital myotonic dystrophy, the mother is almost always affected; neonates with specific congenital myopathies and congenital muscular dystrophy can be very similar to those with congenital myotonic dystrophy; the examination of the mother, specially a careful search for myotonia, is the best diagnostic clue; if there are signs of myotonia, the diagnosis can be made by molecular genetic study.

Biopsy↗
PubMedDate not supplied

[Infantile neuroaxonal dystrophy. A report of two new cases and a review of the literature published over the past ten years].

INTRODUCTION: The neuroaxonal dystrophies make up a group of neurodegenerative disorders of unknown origin, which are characterized by all showing axonal lesions. The infantile form, or Seitelberger s disease, is one of the forms of earliest onset and rapid progression. The clinical, neurophysiological and pathological criteria described by Aicardi and Castelein in 1979 are still valid. However, we should emphasise the great usefulness of cerebral MR scanning in making an early diagnosis of this condition. CLINICAL CASES: We report two brothers, sons of consanguineous parents, who fulfilled the above clinical criteria. Their illness presented before the age of three years, with arrested psychomotor development followed by regression, an initial hypotonia syndrome which progressed to spastic tetraplegia, optic atrophy and progressive deafness, blindness and dementia. Neurophysiological findings were of central conduction disorders, and chronic denervation was shown on EMG. On EEG there were high frequency, high voltage rhythms. MR scanning showed the cerebral cortex to become atrophied and hyperintense at an early stage. On biopsy of the sural nerve and of skin there was spheroid swelling of the axons with tubulous vesicular material seen in myelinated and nonmyelinated axons. CONCLUSIONS: We reviewed the literature published over the past ten years (1990 2000). From this we conclude that on the initial clinical and neurophysiological criteria of Aicardi and with the aid of current neuroimaging techniques, the diagnosis may be suspected sufficiently early so as to permit genetic counselling. This would help to avoid further, high risk pregnancies, even before the diagnosis had been confirmed by the biopsy findings.

Atrophy↗
PubMedDate not supplied

[Eosinophilic myositis in a 9 year old boy].

INTRODUCTION: Eosinophil infiltration of skeletal muscle is rare, but often no etiological factor can be identified and these are isolated eosinophilic myositis. They may be associated with parasite infections or drugs, or be features of rare systemic disorders of hypereosinophilia, such as the myalgia eosinophilia syndrome and the idiopathic hypereosinophilic syndrome. The eosinophilic myopathies should be distinguished from the commoner inflammatory myopathies such as polymyositis and dermatomyositis. CLINICAL CASE: A nine year old boy with slight motor clumsiness but normal psychomotor development and neurological findings. Laboratory findings showed slightly raised serum transaminases (SGOT 271, SGPT 157 UI/L), CPK 7517 UI/L and eosinophilia (707/mL). Investigations for myoglobin cysticercosis, trichinosis, hydatidosis and toxicariasis were negative. No parasites were found in the faeces. The gammaglobulins were normal. Anti smooth muscle, antinuclear and anti KLM antibodies were negative. Cardiological studies were normal. His father, mother and two siblings had normal results of laboratory tests. Muscle biopsy showed inflammatory myopathy with abundant eosinophils, no evidence of parasites, no alteration of membrane proteins: dystrophin, sarcoglycan and merosine. Two years later he remains asymptomatic, maintains raised muscle enzyme levels in all tests with figures for CPK between 3,065 and 9,616UI/L, and eosinophilia ranging between 634 and 1,026/mL. Corticosteroid treatment was tried but no response obtained. CONCLUSION: We consider this to be a case of eosinophilic polymyositis which gives rise to many questions regarding etiopathogenesis, management and prognosis.

Anti-Inflammatory Agents↗
PubMedDate not supplied

[Mitochondriopathies].

AIMS: The purpose of this study is to review different aspects of mitochondrial myopathies. DEVELOPMENT: Mitochondrial DNA is different to that found in the nucleus and is generally inherited through the mother. There are from 2 to 10 copies per mitochondrion and hundreds or thousands of mitochondria per cell. It contains 37 genes. The oxidative phosphorylation system consists of five enzymatic complexes. Mitochondrial diseases can affect many organs but somewhat more frequent in tissues that are physiologically more demanding as regards oxidative phosphorylation, such as the nervous system, the heart and skeletal muscle. Diagnosis of mitochondrial disease is performed by studying skeletal muscle because it is easily accessible and because of its dependence on oxidative metabolism; moreover, deficits in the respiratory chain are often not expressed in cultivated fibroblasts. CONCLUSIONS: The bioptic muscle specimen must be frozen using isopentane for later histochemical examination. For study under the electron microscope, a small sample must be set in glutaraldehyde or a similar fixative. A 150 mg (5 mm3) fragment which has been frozen without isopentane should be used for the study of the respiratory chain, although fresh muscle tissue is needed for the examination of the complex V. About 50 mg of frozen tissue are required for the study of the mitochondrial mutations.

Biopsy↗
PubMedDate not supplied

[Congenital myopathies].

INTRODUCTION: Congenital myopathies include many genetically distinct diseases which have in common the early appearance of symptoms and characteristic morphological findings. AIM: To resume clinical, pathological and genetic findings of the most frequent myopathies in this group. DEVELOPMENT: The most severe of these group is myotubular myopathy; affected boys die frequently in the neonatal period due to respiratory failure. The altered protein, myotubularin, is involved in the metabolism of PI3P. The gene mutated is in Xq28 and more than 140 different mutations have been reported. Centronuclear myopathy is a genetically heterogeneous group, most frequently recessive but sometimes dominant and with a variable clinical course; childhood and adolescent cases usually present facial weakness and ophthalmoplegia together with proximal weakness, while adult forms show symptoms similar to limb girdle dystrophies. The protein responsible of the disease as well as the genetic locus involved are still unknown. Central core disease (CCD) is a scarcely progressive disease frequently associated with skeletal malformations. The inheritance is usually dominant. CCD has an important association with malignant hyperthermia and both diseases share the same gene in 19q13, locus of the RYR1 gene which encodes the ryanodine receptor. Minicore myopathy is a recessive disorder which shows four different phenotypes, the most frequent being the 'classical' one, with axial weakness, scoliosis and severe respiratory insufficiency; some of these cases have mutations in the selenoprotein N gene. Other phenotype with slowly progressive weakness and hand atrophy has a homozygous mutation in the RYR1 gene. Nemaline myopathy shows four different clinical and genetic types according to the age of beginning of symptoms and the type of inheritance. Several different genes have been identified: TPM3 in 1q21, NEB in 2q21 22, ACTA1, TPM2 and TNNT1.

Chromosomes, Human, X↗
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[Bilateral thalamic gliomas: report of a case with cognitive impairment].

INTRODUCTION: Bilateral thalamic tumours are very rare and have been recently identified as a subgroup of thalamic neoplasms due to their characteristic clinical presentation, with behavioural and memory disorders and without sensory or motor changes. We describe a patient who presented with mood and behaviour changes due to a bilateral thalamic glioma, discuss the literature related to these rare neoplasms and review the anatomical bases of their particular clinical presentation. CASE REPORT: A 67-year-old woman consulted because of behavioural changes and frequent forgetfulness. Neurological examination was normal except from a deficit in the retention of words and numbers. MR images revealed bilateral thalamic swelling by a isointense in T1, hyperintense in T2 and protonic density mass that did not enhance. The tumour was diagnosed as an astrocytoma by stereotactic biopsy. She continued to deteriorate and a year after diagnosis she was bedridden and with a severe dementia. CONCLUSION: Bithalamic tumors, as other lesions that affect the thalamus bilaterally, characteristically present with mood and behaviour changes and memory impairment.

Aged↗
PubMedDate not supplied

Long-term persistence of fascia lata patch graft in glaucoma drainage device surgery.

PURPOSE: Conjunctival erosion in glaucoma drainage device surgery can be prevented by the use of patch grafts to cover the extraocular portion of the tube. Several materials can be used, among them human preserved fascia lata. METHODS: The authors present a case of a failed Ahmed glaucoma valve due to encapsulation of the bleb, in which the fascia lata patch placed to cover the tube was removed 32 months later, during the implantation of a second glaucoma drainage device. RESULTS: Histopathologic examination of the fascia lata patch demonstrated its persistence, without degradation or cellular infiltration. CONCLUSIONS: Human preserved fascia lata is a suitable material for tube covering in glaucoma drainage device surgery, with long-term survival.

Acute Disease↗
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[Sarcoid myopathy. Report of two cases and review of the bibliography].

INTRODUCTION: 5% of patients with sarcoidosis are affected by neurological complications, of which myopathy is one of the least frequent. We report the clinical course and therapeutic response of two patients with sarcoid myopathy. CASE REPORTS: We observed two females aged 63 and 55 who were previously diagnosed with sarcoidosis, which in one case was cutaneous and ophthalmic and in the other pulmonary. Both were asymptomatic from a systemic point of view when they visited the Neurology department. Both patients developed chronic myopathy (with a history of 9 months and 6 years), which was predominantly proximal, painful and both of them had normal or slightly high levels of creatine phosphokinase. The EMG was clearly myopathic in the two patients. A muscle biopsy showed a mononuclear-cell infiltrate with the formation of non-caseating granulomas. Both patients were treated with prednisone, although the therapeutic response was different in each case. One of the patients showed an important improvement in just a few days, while in the other case the disease remained stable, despite adding, first, azathioprine and later methotrexate to the treatment. CONCLUSIONS: Sarcoidosis can cause chronic, predominantly proximal, myopathy, and chiefly affects females over 50 years of age. The therapeutic response to steroids and immunosuppressants varies from case to case.

Anti-Inflammatory Agents↗
PubMedDate not supplied

[Unusual cortical compromise in a case of Wernicke's encephalopathy].

INTRODUCTION: Wernicke's encephalopathy (WE) is a metabolic disease due to thiamine deficiency; only 10% of cases are diagnosed pre-mortem. Symptoms of WE include ophthalmoplegia, nistagmus, ataxia and mental confusion; post-mortem examination shows characteristic symmetrical lesions in the mamillary bodies (MB), hypothalamus, thalamus, brain stem and cerebellum with spongiosis, demyelination, vascular proliferation and relative preservation of neurons. CASE REPORT: 50 years-old male with alcoholic hepatopathy and orthotopic hepatic transplant who suffered a second surgical intervention 10 days after due to problems in the biliar anastomosis. After this second surgery he showed an altered mental status, with fluctuating global confusion, disorientation and agitation. He died 52 days after the hepatic transplantation. Autopsy study showed bilateral broncopneumonia, brown discoloration of the MB and bilateral linear lesions in the cortex of both motor gyri, which histologically showed identical to the MB lesions with demyelination, capillary and glial proliferation and preservation of neurons. Alzheimer type II astrocytes were also found in basal nuclei and cortex. CONCLUSIONS: Typical WE lesions affect MB, hypothalamus, thalamus, brain stem and cerebellum; cortical lesions, when found, are due to hepatocerebral degeneration with Alzheimer type II astrocytes or to the citopathic effects of ethanol. In our case, cortical lesions were identical to the lesions found in MB, an extraordinary finding which we have not found reported in the literature.

Alcoholism↗
PubMedDate not supplied

[Melanotic medulloblastoma. Ultrastructural and histochemical study of a case].

A electron microscopic and immunohistochemical study of a Melanotic medulloblastoma is reported. The cerebellar tumor was located in the vermis of a 6-year-old boy, dead 11 months after diagnosis. The tumor consisted of medulloblastoma-like areas with focal differentiation and pseudoepithelial structures pigmented with melanin. Electron microscopy showed melanosomes and tight junctions in pigmented areas. On immunohistochemistry, the cytoplasm of melanotic cells were positive to S-100 protein and the differentiated glial cells to GFAP. The tumor histogenesis, its relationship with other pigmented tumors of the CNS and their low frequency is commented on.

Cerebellar Neoplasms↗