Biomedical subjects

Laura M F F Guilhoto

Publications and source records attributed to Laura M F F Guilhoto.

4 recordsLinked to original sources

PubMed2006

Occipital intermittent rhythmic delta activity in absence epilepsy.

Occipital intermittent rhythmic delta activity (OIRDA) is considered good prognostic factor in typical absences (TA). We report electroclinical evolution in 14 patients with TA and OIRDA, which performed video-EEG. Seven patients were female; 9 had childhood absence epilepsy and the others did not present electroclinical characteristics for syndromic classification according to ILAE's classification (1989). Pyknolepsy was referred to in 13; TA was the only seizure type in 13; one had generalized tonic-clonic seizures (GTCS) and three had myoclonic jerks during TA. VPA monotherapy controlled seizures in 11, diVPA and ESM, in one each. After seizure control EEG normalized in 10 while in three, spike-wave complexes (SWC) persisted, accompanied by OIRDA in one. Finally in another, seizures were not controlled and SWC and OIRDA persisted. In conclusion, we observed in this series of TA and OIRDA with onset before 10 years, pyknolepsy as common finding and few GTCS. VPA controlled seizures in most cases and EEG normalized in 76.92%. We suggest that OIRDA could be considered good prognostic factor in TA associated with SWC and of epileptiform nature leading to appropriate investigation.

Adolescent↗

PubMed2006

Allelic variants of the gamma-aminobutyric acid-A receptor alpha1-subunit gene (GABRA1) are not associated with idiopathic gonadotropin-dependent precocious puberty in girls with and without electroencephalographic abnormalities.

CONTEXT: gamma-Aminobutyric acid (GABA) is a dominant inhibitory neurotransmitter involved in the modulation of brain electric activity and puberty onset in primates. GABA inhibitory effects on GnRH neurons are mainly mediated by GABA-A receptor alpha1-subunit. OBJECTIVE: The objective of this study was to investigate functional mutations or polymorphisms of the GABA-A receptor alpha1-subunit gene (GABRA1) in girls with idiopathic gonadotropin-dependent precocious puberty (GDPP) with and without electroencephalographic (EEG) abnormalities. DESIGN: The entire coding region of GABRA1 was sequenced in all patients. Two known GABRA1 polymorphisms were investigated by GeneScan software analysis or enzymatic restriction. Seventy-three normal women were used as controls for genetic study. EEG tracings were recorded in 23 girls with GDPP and 17 girls with adequate pubertal development. SETTING: The study was performed at a university hospital. PATIENTS: Thirty-one girls from 28 unrelated families with idiopathic GDPP were studied. RESULTS: Automatic sequencing revealed no functional mutations in girls with GDPP. Seven different GABRA1 polymorphisms, including two exonic (156T>C and 1323G>A) and five intronic [IVS2-712(GT)n, IVS3+12A>T, IVS8+45T>G, IVS9+76A>G, and IVS10+15G>A], were found in GDPP girls and controls. Abnormal EEG tracings were found in 26% of 23 girls with GDPP, two of them with epilepsy. The genotype and allele frequencies of the GABRA1 polymorphisms were not statistically different between unrelated GDPP girls and controls or between GDPP girls with or without EEG abnormalities. CONCLUSIONS: GABRA1 functional mutations or polymorphisms are not associated with the intrinsic mechanism of GDPP in girls with and without EEG abnormalities.

Adolescent↗

PubMed2004

Brainstem auditory evoked response in normal term neonates.

Brainstem auditory evoked response (BAER) is a reliable test for neonatal auditory and neurological dysfunction and it permits early diagnosis and rehabilitation. The purpose of this study is to demonstrate latencies of BAER in normal term neonates in order to obtain reference values in a university hospital. BAER was performed in the second day of life in 47 normal newborns (25 male, 22 female) which gestational ages were higher than 37 and lower than or equal to 40 weeks that did not present familial history of deafness. The exam was performed with 80 dBHL alternating polarity 10/sec clicks presented monaurally. Two thousand stimulus trials were averaged and duplicated for each ear. Mean wave latencies in msec was: I, 1.79 (SD 0.20); II, 2.88 (SD 0.28); III, 4.54 (SD 0.31); IV, 5.86 (SD 0.36); V, 6.75 (SD 0.38); inter-peak latencies (IPL) I-III, 2.75 (SD 0.36); IPL III-V, 2.22 (SD 0.22); and IPL I-V, 4.97 (SD 0.43).

Acoustic Stimulation↗

PubMed2003

Syndromic classification of patients with typical absence seizures.

The aim of this study is to compare ILAE classification (1989) and Panayiotopoulos' criteria (1997) for absence epilepsies. We studied 455 typical absences (ILAE, 1981) by video-EEG in 43 patients with normal neurological and neuroradiological examinations and interictal EEG with spike-wave complexes higher than 2.5Hz. Syndromic diagnosis was possible in 60.5% and 67.4% of the patients using ILAE classification and Panayiotopoulos' proposal, respectively. According to ILAE criteria 19 patients had childhood absence epilepsy (CAE), five juvenile absence epilepsy (JAE), one juvenile myoclonic epilepsy (JME) and one epilepsy with specific modes of seizure precipitation. According to Panayiotopoulos' proposal, 10 had CAE, 14 JAE, one JME, three myoclonic absence epilepsy and one eyelid myoclonia with absences. We conclude that Panayiotopoulos' criteria and ILAE classification for absence epilepsies, which did not allow for the classification of 32.6% and 39.5% of cases, respectively, were still insufficient to classify all patients under specific diagnosis.

Adolescent↗