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Biomedical subjects

M Gazdik

Publications and source records attributed to M Gazdik.

10 recordsLinked to original sources
PubMed2004

Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants.

Congenital myasthenic syndromes (CMS) result from mutations in various synapse-associated genes. Mutations in the choline acetyltransferase (CHAT) gene cause a presynaptic CMS associated with episodic apnea (CMS-EA). We present two unrelated Croatian children affected by CMS-EA. Beside other clinical findings characteristic for CMS, both patients manifested intermittent apneas since early infancy. Whereas the course of disease is mild in the female patient (patient 2), the male patient (patient 1) experienced recurrent and severe episodes of apnea despite adequate treatment with AChE-inhibitors and shows a global developmental delay with delayed myelination and signs of hypoxic-ischemic injury in brain imaging. Interestingly, sequencing of the CHAT gene revealed identical, compound heterozygous mutations S694C and T354M in both children. These findings are in line with a remarkable clinical heterogeneity observed in patients with CHAT mutations and emphasize the potential role of apneic crises for the development of secondary hypoxic brain damage and psychomotor retardation.

Apnea↗
PubMed2001

Sonographic detection of multiple brain abscesses in a newborn with IgA deficiency.

We report the case of a neonate with selective IgA deficiency and multiple brain abscesses diagnosed with sonography. Brain sonography revealed multiple abscesses in the left hemisphere; the abscesses ranged from 10 to 20 mm. Cultures obtained from the cerebrospinal fluid and blood were positive for Proteus mirabilis. The neonate responded promptly to broad-spectrum antibiotic therapy and had no neurologic sequelae. Because IgA deficiency is associated with infections, we believe it was a predisposing factor for the brain abscesses.

Brain Abscess↗
PubMed1991

In-line lead connector for use with implanted neuroprosthesis.

The design, implementation, and preliminary testing of an implantable in-line connector for individual lead-wires is presented. The connector provides for replacement of implanted components without disturbing other elements of the implanted system. Its flexibility and size makes it suitable for implantation in neuromuscular applications.

Animals↗
PubMed1989

[Determination of the optimal dose of aminophylline in children with severe asthmatic attacks].

The therapeutic effect of aminophylline in children having severe asthmatic attacks with a special emphasis on an appropriate dose, adequate administration and measurement of serum aminophylline concentrations is presented. The study group consisted of 24 patients with severe asthmatic attacks. The patients were assigned to three groups according to the dosage of aminophylline administered. Patients in Group 1 received a dose of 7 mg/kg body weight, those in Group 2 5 mg/kg body weight and those in Group 3 (previously treated with theophylline) 4 mg/kg body weight. For each patient, clinical and laboratory parameters were followed. The results demonstrated that adequate therapeutic response and optimal serum theophylline concentrations were achieved only in Group 1. Patients in which lower doses of aminophylline were employed (Group 2 and Group 3) showed neither the adequate therapeutic response not did achieve the adequate serum theophylline concentrations, and administration of aminophylline had to be repeated. In the majority of patients, mild hyperglicemia was noticed. The mechanism and the sequence of events how it occurred was not determined. In conclusion, this data show that aminophylline, if administered in an adequate dose, is a drug of choice in the treatment of children with severe asthmatic attacks.

Adolescent↗
PubMedDate not supplied

Transorbital penetrating brain injury caused by a toy arrow: a case report.

A case of a 9-year-old boy with a transorbital toy-arrow injury to the brain is presented. At admission he was in coma (Glasgow Coma Scale of 6) with right hemiparesis and had a completely prolapsed left eye. Computerized tomography revealed intracranial haemorrhage and fracture of the orbital wall, which were treated conservatively. His left eye was enucleated due to massive injury. At the 6-month check-up the boy still show neurological signs of latent right hemiparesis. Disturbances, mostly cognitive, were noted on his psychological tests. A survey of the literature reveals no report of this nature in the paediatric age group. The necessity of continuous monitoring of new environmental risks as they occur, and the requirement for the prevention of recreational brain injuries in children, is stressed.

Brain Injuries↗
PubMedDate not supplied

[Epilepsy with centrotemporal (Rolandic) spikes. A peculiar seizure disorder of childhood].

The study presents the results of a long term investigation of 60 epileptic children with Rolandic (centrotemporal) spikes in EEG. The results could be summarized as follows: the Rolandic epilepsy is relatively frequent entity (13.4% of the total number of epileptic children). The age span was from 3--13 years, with a peak of age incidence between the 7th and 8th year of life. More than half of children had nocturnal fits only. From the clinical point of view 60% of children had generalized crises, and the remaining 40% had partial attacks corresponding to the functional organization of the Rolandic cortical area. The evolution of the Rolandic epilepsy in childhood is favourable. More than 50% didn't have more attacks after the introduction of antiepileptic therapy, and 3/4 of them could be classified as practically cured after an long-term follow-up (criterion: an attack-free period of at least 5 years. Finally, in more than 80% of cases after three years of follow-up the spikes have disappeared from the EEG tracings which were completely normal.

Adolescent↗
PubMedDate not supplied

[Early predictors of outcome in children with head injuries].

In an attempt to determine whether the clinical data obtained by primary survey may be used as early outcome predictors in children who had sustained head trauma, children aged 0-14 with clinical diagnoses of coma, contusion, comotio, skull fracture or a combination of these diagnoses or who had been hospitalized for at least 3 days, between 1987 and 1990, were reviewed retrospectively. The outcome was defined by the clinical condition of children 6 months following head trauma using a Glasgow outcome scale (GOS), and was classified: good (good recovery and moderate disability) and poor (severe disability, persistent vegetative state, death). Of 70 children with trauma, 43 patients (61.4%) were separated by this method. The pupillary appearance and reactivity, Glasgow coma scale (GCS) and motor response graded by GCS were compared with the outcome. The analysis demonstrated that the early significant predictors of outcome of head trauma are the pupillary appearance and reactivity as well as Glasgow coma scale. Motor response graded by GCS did not achieve statistical significance (z = 1.5, P > 0.05) as a predictor of outcome. In this analysis, we have graded motor response according to the GCS criteria, thus it is not excluded that the use of different criteria could demonstrate the importance of motor response as an outcome predictor. In order to ascertain the significance of predictors in early outcome prognosis of head trauma, a relative risk for poor outcome was calculated. Our results showed that the significant predictors in descending order of preference are: pupillary reactivity, pupillary appearance and GCS.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗