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Biomedical subjects

I Cimas-Hernando

Publications and source records attributed to I Cimas-Hernando.

7 recordsLinked to original sources
PubMed1998

[Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases].

INTRODUCTION: Limb Girdle Muscular Dystrophy type 2C (LGMD2C) is an autosomal recessive dystrophy due to the deficit of gamma-sarcoglycan, one of the proteins of the dystrophin-associated proteins complex (DAP). A new mutation in the gamma-sarcoglycan gene, 13q12, has been described recently and is exclusive of the gypsy community. OBJECTIVE: To describe the clinicopathological and the genetic findings of eleven cases from a Spanish gypsy family with LGMD2C and the mutation C283Y. MATERIAL AND METHODS: We describe a large gypsy family with the C283Y mutation and eleven affected patients. We have performed an extensive clinical and pathological study with immunohistochemistry and Western blot analyses in the eleven patients and a genetic study of a total of twenty-seven members of the family. RESULTS: The patients presented a severe muscular dystrophy with a dystrophic pattern in the muscle biopsy, normal immunolabeling for dystrophin, very weak for alpha-, beta- and delta-sarcoglycan and absent for gamma-sarcoglycan. These eleven patients were found to be homozygous for the mutation and twelve other members of the family, heterozygous. CONCLUSIONS: The clinical picture and the evolution of the disease herein described is similar to that observed in DMD. Two fundamental differences were found: the autosomal recessive mode of inheritance, and the normal immunohistochemistry and immunoblot for dystrophin in the skeletal muscle.

Adolescent↗
PubMedDate not supplied

[Cerebellar glioblastoma multiforme: a case report].

INTRODUCTION: Cerebellar glioblastoma multiforme (CGM) accounts for less than 1% of all intracranial glioblastomas; it spreads quickly locally, above all towards the brain stem and adjacent leptomeninges, and has a poor prognosis. CASE REPORT: We report the case of a 55 year old patient who presented a continuous feeling of dizziness, instability and sickness, with occasionally vomiting and double vision that had started two months before being admitted to hospital. A physical exploration revealed hypaesthesia of the right side of the face, tactile and algesic hypaesthesia in the left side of the body and nystagmus in the bilateral horizontal gaze. Results of the general physical exploration were normal. A magnetic resonance (MR) brain scan revealed a 3 cm expansive lesion in the middle cerebellar peduncle and right cerebellar hemisphere, which was hypointense in T1 and hyperintense in T2. Administering contrast showed it to be heterogeneous, with irregular annular enhancement, and perilesional edema. Subtotal excision of the lesion was performed and pathological analysis allowed a diagnosis of glioblastoma multiforme to be made; radio and chemotherapy were continued. CONCLUSION: CGM is infrequent and 46.7 years is the mean age of onset. 59% of tumours are located in the hemispheres, they tend to spread locally, and remote metastases have also been reported. Initial clinical manifestations are intracranial hypertension, and gait and balance disorders. Differential diagnosis is provided by MR and includes metastasis, infarction and abscesses. Treatment involves radical surgical excision followed by local radiotherapy. The use of chemotherapy has been reported but its role in the treatment of this entity is still not altogether clear.

Cerebellar Neoplasms↗
PubMedDate not supplied

[The economic impact of epilepsy].

AIMS: In this study we review the economic impact involved in suffering from this disease in an attempt to determine how it affects both the individual and society, and the potential benefits deriving from its prevention and treatment. DEVELOPMENT: The World Health Organisation and the World Bank have pointed out that 90% of the costs generated by epilepsy are produced in developing countries. Yet in most developed countries the economic impact of the disease remains partially hidden for patients by the existence of publicly funded health service. As regards spending on pharmaceutical products in Spain, the subgroup made up of the antiepileptic drugs accounted for 1.36% of the total spending throughout the year 2001. Nevertheless, the main economic consequence for most patients is the limitation they suffer in their occupational activities, which is inversely proportional to the degree of control over their seizures and considerably higher than in the general population. Moreover, in epilepsy we must not forget the costs linked to its numerous psychological and social consequences. CONCLUSIONS: As happens in other areas of health care, the way epilepsy is attended depends to a large extent on economic factors. Further studies are therefore needed to provide us with a better understanding of the role played by economics in the field of health care.

Cost of Illness↗
PubMedDate not supplied

[Does brain blood flow HMPAO SPECT withhold the vascular etiopathogenic theory of transient global amnesia?].

INTRODUCTION: Transient global amnesia (TGA) is a neurological disorder that consists in a sudden loss of anterograd memory and temporospatial disorientation during less than 24 hours. Several precipitating factors have been reported. Conventional neuroimaging scans usually are negative. Different etiopathogenic theories have been postulated but the vascular etiology is the most commonly accepted. CASE REPORTS: Three patients with a typical presentation of TGA are studied. In all of them two brain blood flow HMPAO SPECT were performed, within the first 48 hours from the onset and three months after as an evolutive control. The first patient showed a left temporal perfusion defect and temporoparietal hypoperfusion. The second showed frontotemporal hypoperfusion, temporal mesial defect and hypoperfusion in basal ganglia, all in the left side. The third patient showed thalamic hyperperfusion and cerebellum hypoperfusion, both in the left. In all of them, control SPECT normalized. CONCLUSION: Three etiopatogenic theories about TGA have been reported: epilepsy, migraine and blood flow impairment. In TGA neuroanatomic image and neurophysiologic studies usually do not show significative alterations. Conversely, functional studies as brain blood flow HMPAO SPECT, do show changes being the most common bilateral temporobasal hypoperfusion, although this is not the only pattern described. Causes of this variable behaviour remain unclear but can be related to different clinic expressions and, over all, to time of evolution from onset. The three cases in this study show three different perfusion patterns reported in TGA and all of them withhold the vascular etiopathogenic theory.

Adult↗
PubMedDate not supplied

[Leber's optic neuropathy: a case report].

INTRODUCTION: Leber's optic neuropathy is a hereditary disease that mainly affects young males and is produced by specific mutations of the mitochondrial DNA, which affect the complex I of the mitochondrial respiratory chain. CASE REPORT: An 18-year-old male who presented with a 3-week history of progressive loss of sight in the right eye. Magnetic resonance imaging of the brain revealed numerous hyperintense lesions in the periventricular and subcortical white matter, and the visual evoked potentials showed bilateral optic neuropathy that was mild on the left side and severe on the right side. A spinal tap was performed and oligoclonal bands were detected in the cerebrospinal fluid. In the weeks that followed vision continued to get worse on both sides and the patient had hyalinised vessels in the papilla, with lower amplitude responses bilaterally in the electroretinogram. A genetic study was conducted that revealed a primary mutation 11778 in gene MTND4 and secondary mutation 15257 in gene MTCYB, which were compatible with a diagnosis of Leber's optic neuropathy. CONCLUSIONS: The absence of inflammation of the optic disc, which could lead to the suspicion of a retrobulbar neuritis, must act as a warning to the physician that he or she is possibly before a case of Leber's optic neuropathy, especially when the loss of vision is still progressing, when there is early bilateral involvement or if there is a family history of optic neuritis or multiple sclerosis.

Adolescent↗