Iron overload in beta 2-microglobulin-deficient mice.

The present paper describes the results of a comparative histological and quantitative analysis of iron distribution in tissues of beta 2m-/- and beta 2m+/- mice of different ages. Progressive hepatic iron overload, indistinguishable from that observed in human hemochromatosis, was found only in mice homozygous for the mutated beta 2m gene. Total iron measurements done by flame atomic absorption showed statistically significant differences between liver samples from 5 beta 2m+/- heterozygotes (468 +/- 174 micrograms/g of dry weight) and 9 mice homozygous for the mutated beta 2m gene with average total hepatic iron levels of 1583 +/- 423 micrograms/g of dry weight.

Prevalence of sleep-talking in childhood.

This report is on the prevalence of somniloquy, as revealed by a populational survey of 2,022 schoolchildren aged from 3 to 10 years. Data were collected by means of a multiple choice questionnaire aimed at the investigation of sleep characteristics (sleep characteristics questionnaire-SCQ) and submitted to statistical analysis. The objective was to detect the prevalence of sleep-talk and influence of age, sex and socioeconomic class on its frequency. About half the children of all ages presented somniloquy at least once a year, but less than 10% presented it everyday. No clearmarked correlation with age, sex or socioeconomic class was found. These results do not confirm the generally accepted notion that there is a higher prevalence in the beginning of the first decade of life and suggest also the necessity of further quantitative and objective assessment of this phenomenon.

Night sleep electroencephalogram power spectral analysis in excessive daytime sleepiness disorders.

A group of 53 patients (40 males, 13 females) with mean age of 49 years, ranging from 30 to 70 years, was evaluated in the following excessive daytime sleepiness (EDS) disorders: obstructive sleep apnea syndrome (B4a), periodic movements in sleep (B5a), affective disorder (B2a), functional psychiatric non affective disorder (B2b). We considered all adult patients referred to the Center sequentially with no other distinctions but these three criteria: (a) EDS was the main complaint; (b) right handed; (c) not using psychotropic drugs for two weeks prior to the all-night polysomnography. EEG (C3/A1, C4/A2) samples from 2 to 10 minutes of each stage of the first REM cycle were chosen. The data was recorded simultaneously in magnetic tape and then fed into a computer for power spectral analysis. The percentage of power (PP) in each band calculated in relation to the total EEG power was determined of subsequent sections of 20.4 s for the following frequency bands: delta, theta, alpha and beta. The PP in all EDS patients sample had a tendency to decrease progressively from the slowest to the fastest frequency bands, in every sleep stage. PP distribution in the delta range increased progressively from stage 1 to stage 4; stage REM levels were close to stage 2 levels. In an EDS patients interhemispheric coherence was high in every band and sleep stage. B4a patients sample PP had a tendency to decrease progressively from the slowest to the fastest frequency bands, in every sleep stage; PP distribution in the delta range increased progressively from stage 1 to stage 4; stage REM levels were between stage 1 and stage 2 levels.(ABSTRACT TRUNCATED AT 250 WORDS)

Midazolam daytime residual effect evaluated by the Multiple Sleep Latency Test.

Daytime sleepiness after ingestion of midazolam as a hypnotic was quantitatively studied employing the Multiple Sleep Latency Test (MSLT). We evaluated 20 healthy volunteers, 10 of which received a single oral dose of midazolam (15 mg, one tablet) and 10 of which received placebo, in a double-blind design. Tablets were administered at 2200 h, bedtime. On the following day, all subjects were submitted to a clinical evaluation, a subjective checklist and the MSLT. The mean age was 34.7 +/- 8.9 years in the midazolam and 38.0 +/- 10.6 years in the placebo groups (n.s.). Sex and weight distributions were similar in both groups (n.s.). Clinical evaluation and subjective symptom checklist did not make evident significant differences between midazolam and placebo groups (n.s.). The MSLT was performed at 0900, 1100, 1300, 1500 and 1700 h. Mean sleep latencies were 12.0, 12.7, 8.0, 13.5, 17.0 min in the midazolam group; mean sleep latencies were 13.8, 9.0, 6.9, 9.5, 13.6 min in the placebo group (n.s.). In the single dose, double-blind design here evaluated, midazolam did not show differences in relation to placebo on the following day, detectable by the MSLT.

Narcolepsy in childhood and adolescence.

The objective of this study was to evaluate clinical, polysomnographic and the multiple sleep latency test (MSLT) features in young narcoleptics. We evaluated 14 patients with mean age of 13.6 years old (ranging from 6 to 18 years); 11 were males and 3 females. Daytime sleepiness was the main complaint in all cases and started at the ages of 6 to 17 years. Cataplexy was described in 10 cases and it was considered mild to moderate in all but one case. Sleep paralysis was present in 6 cases and hypnagogic hallucinations in 7 cases. The main polysomnographic characteristics were the short sleep latency in 9 cases and the sudden onset of REM periods in 7 cases. The MSLT showed short or borderline sleep latencies in 13 cases, with a mean of 4.9 min; 2 or more REM periods were present in 13 cases. Clinical, polysomnographic and MSLT characteristics in the age bracket focused were remarkably similar to those of adult narcoleptics suggesting the stability of these physiopathological markers.

[Jactatio capitis nocturnus: report of a case in an adult]. / Jactatio capitis nocturnus: registro de um caso em adulto.

A case of an adult female patient with jactatio capitis nocturnus evaluated in a sleep disorders center is reported. the unusual characteristics included symptoms initiating in early childhood and becoming more frequent with age, specifically observed during REM sleep. The occurrence in a 2-year-old son indicates the familial aspects of this syndrome.

[Concomitant narcolepsy and sleep apnea: report of a case]. / Narcolepsia e apnéia do sono concomitantes: registro de caso.

A case of concomitant narcolepsy and obstructive sleep apnea evaluated in a sleep disorder center is reported. Tracheostomy decreased the frequency of the apneas but the clinical and polysomnographic features of narcolepsy remained on 3 and 6 months post-surgical follow-ups. These findings support the need for systematic use of all-night polysomnography and multiple sleep latency test in patients with excessive daytime sleepiness.

Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis.

A case of periodic hypersomnia in an 11-year-old female with the unique features of mental deficiency, incontinentia pigmenti, acanthosis nigricans and hereditary multiple exostosis (diaphysial aclasis) is reported. The clinical, polysomnographic and Multiple Sleep Latency test features of this case with a follow up of seven years are consistent with a diagnosis of periodic (intermittent) excessive somnolence. The unique presentation, however, does differ from Kleine-Levin syndrome and suggests a relationship between the predominantly ectodermal, congenital disorders and the sleep-wake pattern dysfunction.

[Atypical Sturge-Weber disease associated with metameric angiomatosis. Case report and review of the literature]. / Doença de Sturge-Weber atípica associada a angiomatose metamérica. Registro de um caso e revisão da literatura.

Possibly the first case of Sturge-Weber disease associated with metameric limbs and trunk cutaneous hemangioma is reported. Roentnographic findings including contrast studies and computerized axial tomography are presented and discussed. Comments are made upon the relations between neurocutaneous angiomatosis.

[Obstructive apnea during sleep: clinical and polygraphic evaluation of 150 cases]. / Apnéia obstrutiva durante o sono: avaliacão clínica e poligráfica de 150 casos.

Obstructive sleep apnea is one of the most common causes of excessive daytime sleepiness. In our sample, clinical evaluation generally suggested this diagnosis by daytime sleepiness (90.6%) and loud snoring (92.0%). Respiratory pauses and inspiratory gasps were frequently reported (12.6%). The age of presentation was after the fourth decade in 87.2%. Polysomnography was characterized by numerous obstructive or mixed apneas, with mean apnea index 37.1; frequent arousals following the apneas; reduction or abscence of stages 3 and 4; reduction of sleep efficiency; hypoxemia and EEG arrhythmias during the respiratory pauses. Tracheostomy was performed in 45 cases, uveopalatopharyngoplasty in 43 and both surgeries in 5, as treatment of choice.

Narcolepsy and depression.

Narcolepsy main symptoms include excessive daytime sleepiness and cataplexy. Its chronic course is accompanied by psychosocial impairment added to the difficulties and side effects of stimulants and tricyclics long term use. Depressive complaints are occasionally reported. The aim of this paper was to evaluate objectively the possibility of depression in a sample of 12 narcoleptics (7F; 5M), with mean age of 53 years (12 years SD), using the Beck Depression Inventory (BDI) and the Hamilton Rating Scale for Depression (HAM-D). The results showed absence of depressive disorder in 75.0% of the cases according to BDI (or 58.3% according to HAM-D). The remaining patients had mild depression (only one patient presented major depression). The findings showed no correlation between narcolepsy and major depression.

[Excessive daytime sleepiness, central type sleep apnea and myotonic dystrophy]. / Sonolência excessiva diurna, apnéia do sono tipo central e distrofia miotônica.

Two cases of myotonic dystrophy with excessive daytime somnolence are described. All-night polysomnographic studies were performed revealing high number of central sleep apnea which triggered micro-arousals and awakenings leading to decrease of sleep efficiency as well as of stage 3, 4 and REM. Obstructive and mixed apneas were found in the normal range. Hypoxia was not present in both recordings. Central sleep apneas and its secondary excessive daytime sleepiness may indicate early signs of the central nervous system impairment related to myotonic dystrophy, as a multi-organ disease.

Evaluation of flurazepam and placebo on sleep disorders in childhood.

The clinically observed results in 40 patients, from 1 to 15 years old, presenting sleep disturbances, in a comparative and statistically approached study of flurazepam 15mg daily against placebo, are reported. Placebo was administered, followed by the drug, during 14 days each. The chief complaints were sleepwalking, sleep-talking, sleep terror, sleep-related bruxism, sleep-related headbanging, insomnia and excessive movements during sleep. A significant effect of flurazepam on sleepwalking, sleep-talking, bruxism, sleep terror and excessive movement during sleep, was observed. The insomniac headbanging patients were not enough for statistical analysis. Flurazepam side effects were excessive drowsiness during daytime in 3 cases; irritability, 3 cases; nausea and vomiting, 2 cases, and were not correlated with age. Placebo side effects were similar, except for nausea and vomiting which were not observed. It was necessary to discontinue flurazepam in 2 cases, because of excessive drowsiness during daytime, which did not improve when reducing the dose.

[Polygraphic aspects of periodic movements in sleep]. / Aspectos poligráficos dos movimentos periódicos do sono.

One hundred patients were analyzed sequentially regarding to the presence of periodic movements in sleep (PMS) or nocturnal myoclonus. The criteria for considering PMS was the presence of 5 or more myoclonic movements per hour of sleep. The 18 patients included in the PMS category were compared with the remaining 82. Those with PMS had tendency to be older than the others. The movements were observed in stage 2 and less commonly in stages 3, 1, 4 and REM. Patients with PMS had generally higher number of arousals and K complexes. There was no difference between both groups regarding sex, history complaints, sleep efficiency, total sleep time, time in each stage and final diagnosis.

Kleine-Levin syndrome. Clinical course, polysomnography and multiple sleep latency test. Case report.

A case of Kleine-Levin syndrome, with chronic severe periodic hypersomnia is described in a 17-year-old female. The first episode started when she was 15 years old. The episodes were characterized by periodic hypersomnia accompanied by hyperphagia, lasting 5 days, and repeating at 28 to 60 day intervals. The severity of hypersomnia prevented her from attending school activities. Outside the hypersomnia periods, she was asymptomatic. EEG, brain computerized tomography and brain nuclear magnetic resonance were normal; all-night polysomnography, Multiple Sleep Latency Test (MSLT) and Epworth Sleepiness Scale (ESS) were within normal limits. During the period of hypersomnolence, polysomnography showed short sleep latency and short REM latency. MSLT mean sleep latency was 1.8 min; and REM period was present in one subtest; the ESS was markedly elevated.

Pierre Robin sequence and obstructive sleep apnea.

The case of a 12-year-old female patient with Pierre Robin sequence is reported, in which reduction of the pharyngeal airway leads to obstructive sleep apnea syndrome (OSAS) and excessive daytime sleepiness. Radiological evaluation, computerized tomography and magnetic resonance image showed bilateral temporomandibular ankylosis. Cephalometric data evidenced marked reduction of the posterior airway space. Three all-night polysomnographic evaluations detected severe OSAS with decrease in oxygen saturation. The Multiple Sleep Latency Test (MSLT) performed on two separate days objectively quantified the excessive daytime sleepiness with short sleep latencies; stage REM was not present. Polysomnography, MSLT and thorough radiologic studies, in this case, made it possible to determine the severity of OSAS, the site of obstruction, and the associated malformations.

[Polysomnographic follow-up of sleep apneas after uvulopalatopharyngoplasty]. / Acompanhamento polissonográfico das apnéias do sono após uvulopalatofaringoplastia.

Uvulopalatopharyngoplasty (UPPP) was performed in 12 patients with obstructive sleep apnea. Pre-surgical clinical and polysomnographic data were compared with those one to three months after surgery. Excessive daytime sleepiness was partially improved in 4 cases and completely abolished in 8. Total sleep time, sleep efficiency, number of arousals and sleep latency were similar in both evaluations. REM latency to stage 2 markedly increased on the follow-up. Stage distributions were similar in both nights except for stage 4 which was more frequently absent on the first recording. SaO2 levels below 80% were seen in 10 cases before UPPP and in 4 after it. Apnea index decreased in all cases but it reached normal levels only in 4.

[Fanconi's anemia: report of 2 cases in the same family]. / Anemia de Fanconi: relato de dois casos na mesma família.

Two familial cases of Fanconi's anaemia are reported. The principal case shows the complete triad of anaemia, squeletic malformations and chromosome breakage, while in his brother only chromosome breakages were found.

[Sotos' syndrome. Report of 2 cases]. / Sindrome de Sotos. Registro de dois casos.

Sotos' syndrome or cerebral gigantism is a rare entity with advanced linear growth, mental retardation and characteristic facies. Two new cases are reported. Clinical, roentgenographic and laboratory findings are discussed.

Intracranial abscesses in infancy and childhood: report of 40 cases.

Forty cases of brain abscesses in patients under 15 years of age observed between 1960 and 1982 are reported in this study. There has been a progressive decrease in the number of admissions due to that disease. The typical clinical picture was subacute and characterized by intracranial hypertension, fever, alterations in the level of consciousness, seizures and signs of localization in a decreasing order of frequency. Otites and sinusites predominated as primary foci and the most common localizations were frontal and parietal. Electroencephalogram and examination of the cerebrospinal fluid were useful. Currently, computerized tomography is indicated as the test of choice. Thirty-four patients underwent surgeries and the mortality rate was 35.2%.