Search PubMed⌕ Search

Biomedical subjects

C Medina

Publications and source records attributed to C Medina.

87 records · Page 5Linked to original sources
PubMed1978

Galactosemia as a result of galactose-1-phosphate uridyltransferase deficiency.

This study was designed to determine the activity of galactose-1-phosphate uridyltransferase enzyme in a family (parents and eight children): four of these with clinical diagnosis of classical galactosemia. In two of them a complete transferase deficiency was found, thus confirming diagnosis; the other two, a pair of dizygotic twins, who since birth up to 11 years of age had been on a galactose free diet, showed enzymatic activity consistent with normal heterozygotes, one of them, and with normal homozygotes, the other. The parents and four brothers had the same enzyme activity levels an those found in heterozygotes for galactosemia. Early diagnosis is of utmost importance in classical galactosemia, and we emphasize this point because patients can be treated with dietotherapy and primary prevention is possible through genetic counseling.

Adolescent↗
PubMedDate not supplied

[The effectiveness of breast cancer screening in our country].

The aim of this paper is to review the current state of breast cancer screening in our country, as well as to discuss the most appropriate approaches for its development. Firstly, the impact of breast cancer in Spain is presented, as well as the current evidence about the efficacy of the screening. The major programs and initiatives addressed to promote screening are described. Finally, a few recommendations are given in order to achieve that breast cancer screening be, not only efficacious, but also effective. It is concluded that it is necessary that health and professional authorities coordinate and monitor breast cancer screening programs.

Adult↗
PubMedDate not supplied

Unusual clinical presentation in two cases of multiple sulfatase deficiency.

Multiple sulfatase deficiency (MSD) is an inborn error of metabolism that combines the clinical features of late infantile metachromatic leukodystrophy and mucopolysaccharidosis. The characteristic biochemical abnormality is a reduction in the activities of several sulfatases, with consequent tissue accumulation of sulfatides, sulfated glycosaminoglycans, sphingolipids, and steroid sulfates. In this study we present two unusual cases of MSD with variable enzymatic deficiency of arylsulfatases A, B, and C. Both patients had ichthyosis, broad thumbs and index fingers, an unusually slow progression of the neurologic symptoms, and lacked the hepatosplenomegaly that is typical of MSD. Olivopontocerebellar atrophy was present and one patient had a large retrocerebellar cyst. Mucopolysaccharides were not detected in the urine from either subject. Leukocyte arylsulfatase A activity in patient 1 was 0.46 nmol/mg protein/hr and in patient 2 was 0.0 nmol/mg protein/hr (normal 0.7-5.0 nmol/mg protein/hr). Leukocyte arylsulfatase B activity in patient 1 was 24 nmol/mg protein/hr and in patient 2 was 22 nmol/mg protein/hr (normal 115-226 nmol/mg protein/hr). Leukocyte arylsulfatase C in patient 1 was 0.30 pmol/mg protein/hr and in patient 2 was 0.28 pmol/mg protein/hr (normal 0.84 pmol/mg protein/hr). In conclusion, these two patients with MSD had mild clinical presentations not previously reported and variable enzymatic deficiency of arylsulfatases A, B, and C.

Adolescent↗
PubMedDate not supplied

[Cerebral magnetic resonance in the study of West syndrome].

INTRODUCTION AND OBJECTIVE: West's syndrome (WS) is an epileptic encephalopathy of the first year of life, associated with different aetiologies. MRI of the brain allows precise determination of the type and extent of the lesions. The aetiology must be recognised in order to establish the prognosis and a suitable therapeutic approach. The objective of this study is to analyse the aetiologies of a population of children with WS and compare the results of cases diagnosed before and after using MRI. PATIENTS AND METHODS: We analyzed the clinical histories of 448 patients fulfilling the diagnostic criteria for WS (infantile spasms and a EEG with a pattern of hypsarrhythmia), 217 in pre-MRI era (group 1) and 231 in the post-MRI era (group 2). The following parameters were analyzed: type of WS, sex, duration of follow-up, age of onset of infantile spasms and particularly the neuroradiological studies. RESULTS: Group 1: symptomatic WS, 157 patients; cryptogenic WS, 60 patients. Group 2: symptomatic WS, 169 patients; cryptogenic WS, 62 patients. The aetiologies of symptomatic WS were: cortical dysplasias, neurocutaneous disorders, cerebral malformation and prenatal clastic lesions, hypoxic ischaemia, post-infection, metabolic, tumors, Down's syndrome, others and unknown cause. CONCLUSIONS: It is known that cerebral MRI gives better definition of these types of cerebral lesions than cerebral CT does. We emphasize the importance of MRI in patients with symptomatic WS for precise determination of the aetiology, and speculate as to whether some of the 21 cases of unknown aetiology of group 1 could have been diagnosed if studied nowadays.

Adolescent↗
PubMedDate not supplied

[Acquired epileptic aphasia].

OBJECTIVE: To evaluate clinical and EEG features, as well as treatment and progression in fifteen patients with a diagnosis of acquired epileptic aphasia. PATIENTS AND METHODS: The population comprised nine male and six female patients, whose mean age was 14.5 (r = 8.11-20 years). All were on routine antiepileptic drugs. Inclusion criteria were acute, subacute or chronic aphasia, lacking signs of motor deficit or demonstrable brain lesion, but displaying bilateral spikes or generalized spike-wave discharges. Throughout, sleep and waking EEG, neuroimaging, brainstem auditory evoked potentials and neuro-psychological evaluations were performed. Cortical brainstem auditory evoked potentials were carried out in ten cases. RESULTS: Median age at onset of verbal auditory agnosia was 5.6 years (r = 1.1-8.6 years), which eleven cases developed epileptic seizures at a median age of five years. Waking and sleep EEG were abnormal but brainstem auditory evoked potentials were normal throughout. Cortical brainstem auditory evoked potentials in ten patients displayed P300 wave and vertex potential alterations. Five cases received 1-3 mg/kg/day prednisone during 6-12 months, with almost complete speech recovery in four. At the last follow-up, language impairment was mild in five patients, moderate in five and severe in three, while two children recovered normal speech. CONCLUSIONS: Early acquired epileptic aphasia treatment is advisable with valproic acid, benzodiazepines or ethosuximide alone or in combinations, supplementary with corticoids for at least six months in the absence of clinical response and/or EEG improvement. Globally, seven out of fifteen patients overcame their speech disorder.

Adolescent↗
PubMedDate not supplied

[Polyneuropathy in critically ill patients: a seldom recognized cause of dependence on mechanical ventilators].

INTRODUCTION: Neuromuscular complications, in a critical care unit, are a cause of morbidity in children and prolonged dependence on a mechanical ventilator. Polyneuropathy of the critical patient is such a complication and is seen in patients on mechanical respiratory assistance. OBJECTIVE: To discuss the neurological and electrophysiological clinical findings of polyneuropathy of the critical patient. CLINICAL CASE: We evaluated four patients who initially required mechanical respiratory assistance, three for lung disorders and one for acute encephalopathy, who developed prolonged dependence on mechanical ventilators in the year 1999. In all these patients electromyography showed primary axon nerve disorders with secondary demyelination of all four limbs and phrenic nerve involvement. CONCLUSIONS: Clinical suspicion and use of suitable electrophysiological techniques permits identification of this condition in the severely ill paediatric patient. Better recognition of the condition and investigation of the etiological factors would help to develop suitable measures for prevention and treatment.

Atrophy↗
PubMedDate not supplied

[Clinical and electroencephalographic aspects of late infantile neuronal ceroid lipofuscinosis].

AIMS: In this paper we describe the clinical characteristics, and particularly the epileptic seizures and electroencephalographic findings, in 15 patients with a pathology diagnosis of late infantile neuronal ceroid lipofuscinosis (NCL). PATIENTS AND METHODS: Nine female and six male patients were studied and their clinical records covering the period February 1990 to June 2003 were analysed. Neuroimaging, neurometabolic studies, ERG, PE and repeated EEG were carried out in all cases. RESULTS: The mean age on onset of the disease was 3 years (range: 1-5 years). The initial symptom was epilepsy in all cases. Massive myoclonias and myoclonic-atonic seizures were the most frequent kinds of attacks. Focal myoclonias were observed in six patients. Other types of epileptic seizures observed included generalised tonic-clonic, absence, motor focal and complex focal. The epileptic seizures were resistant to therapy. Progressive neurological and visual impairment, pyramidal and cerebellar signs, as well as mental retardation were present in all cases. Intercritical EEG recordings showed diffuse paroxysms with spike and polyspike waves, multifocal spikes and, less often, focal spikes that were predominant in posterior regions. Photostimulation showed high amplitude (300-450) occipital spikes during the application of light stimulation between 1 and 8 Hz. ERG, VEP and SSEP results were pathological. Images showed signs of brain and cerebellar atrophy. Seven of the patients died between 8.5 and 11 years of age. CONCLUSIONS: Late infantile NCL must be considered in the case of a child aged between 1 and 5 years who presents seizures that are predominantly generalised myoclonias and myoclonic-atonic, in association with progressive neurological deterioration including pyramidal, cerebellar and visual signs and an EEG trace showing occipital paroxysms triggered by low frequency photostimulation.

Child↗
PubMedDate not supplied

Erythrocyte superoxide dismutase activity in patients with malignant neoplasms.

Erythrocyte superoxide dismutase activity was determined in four groups of patients, two with hematologic neoplasms with and without therapy and two others with solid tumors also selected on the basis of therapy. Increased activities were found in the two groups where there was no treatment, whereas those under treatment showed normal levels. In addition, an inverse relationship (r = -0.25 p < 0.02) between superoxide dismutase activities and the time under therapy was observed.

Adult↗
PubMedDate not supplied

[Identification of inborn errors of galactose metabolism in patients with cataracts].

133 patients with congenital or idiopathic cataracts were studied (94 patients had ages between 1 month and 14 years; 10 patients had ages between 16 and 50 years and 29 patients did not have an age registry) along with 18 patients with a clinical diagnosis of classic galactosemia. The activity of galactokinase (GALAK) and that of erythrocyte galactose-1-phosphate uridyl transferase (GALT) was measured. There were no individuals with a total deficiency of GALK or GALT. The cataract patients of ages between 1 monthly and 14 years, 3 (3.19%) and 4 (4.25%) showed GALK and GALT levels in the range corresponding to the respective heterozygotes. As compared with the expected incidence of heterozygotes in the general population (0.2% for GALK and 0.8% for GALT) we found a significant rise of individuals with low levels of enzymes for the metabolism of galactose. The possibility that heterozygote galactosemic states contribute a risk factor in the development of cataracts and its therapeutic implications are discussed.

Adolescent↗
PubMedDate not supplied

Late complication of laparoscopic salpingoophorectomy: retained foreign body presenting as an acute abdomen.

BACKGROUND: Laparoscopy is widely used as a tool in many clinical situations allowing for diagnosis and/or surgical management in a minimally invasive fashion. Most laparoscopic cases are ambulatory and allow patients to recover quickly. Nonetheless, attention to surgical technique is paramount to avoid both short and long term complications. CASE: A 32-year-old woman had a laparoscopy and a reported left salpingoophorectomy for benign disease of the ovary in September, 1994. Shortly thereafter, in January, 1995, she was diagnosed with an intrauterine pregnancy and delivered in October of 1995 by spontaneous vaginal delivery. The pregnancy and delivery were both uncomplicated. The patient presented four weeks postpartum with clinical suspicion of appendicitis. However, at the time of laparotomy, the patient was found to have a retained foreign body from her prior laparoscopy in the right lower quadrant with a pelvic abscess and evidence of prior right salpingoophorectomy. The appendix appeared grossly normal. CONCLUSION: Laparoscopy is a safe, effective modality for various surgical and gynecologic conditions. Although laparoscopy is usually done on an outpatient basis, complications can manifest several weeks or months later. This case illustrates and reminds us of the importance of adherence to surgical laparoscopic principles. These include direct visualization when removing equipment and a complete count of surgical instrumentation to confirm the integrity of such at the end of each procedure.

Abdomen, Acute↗