Alström syndrome mimicking spasmus nutans: report of a novel ALMS1 variant.

We report the case of an otherwise healthy 6-year-old girl presenting with poor visual acuity, photophobia, and abnormal eye and head movements who was initially diagnosed with spasmus nutans. A remote history of presumed viral cardiomyopathy and further electroretinography testing raised suspicion for Alström syndrome. She was diagnosed with a novel ALMS1 variant.

Congenital Aniridia: Clinic, Genetics, Therapeutics, and Prognosis.

Congenital aniridia is a rare condition related to a deficiency in the PAX6 gene expression, which may occur as a result of a family inheritance or a sporadic occurrence. Additionally, this condition may occur as an isolated ocular phenotype or in association with a systemic syndrome. The most common abnormality is iris hypoplasia; however, a panocular disease which also affects the cornea, anterior chamber of the eye, lens, and the posterior segment with presence of optic nerve and foveal hypoplasia is also evident. The development of keratopathy, glaucoma, and cataract is frequent and its presence has implications in the patient's visual acuity. Managing aniridia is challenging since the focus is on treating the previously mentioned disorders, and the outcomes are often disappointing. In this paper, we shall review the epidemiology, pathophysiology, and clinical characteristics of patients with aniridia. We shall also make a review of the therapeutic options for the several conditions affecting this syndrome and consider the genetics and prognostic factors.

Association between body mass index and sleep duration assessed by objective methods in a representative sample of the adult population.

INTRODUCTION: Sleep duration has been associated with overweight individuals in many epidemiological studies; however, few studies have assessed sleep using objective methods. Our study was designed to evaluate the association between body mass index (BMI) and sleep duration measured by actigraphy (Acti), polysomnography (PSG) and the Pittsburgh sleep quality index questionnaire (PSQIO). Furthermore, we evaluated other biochemical and polysomnographic parameters. METHODS: A representative sample of 1042 individuals from Sao Paulo, Brazil, including both genders (20-80 yrs), participated in our protocol. Weight and other anthropometric parameters were measured at the onset of the study. Sleep duration was calculated by Acti, PSG, and the PSQIQ. The population was sorted by sleep duration, body, slow wave sleep (SWS) and REM sleep (REMS) duration subsets. In addition, other biochemical and polysomnographic parameters were analyzed. Differences between population subsets were analyzed by one-way analysis of variance (ANOVA). Linear regression analysis was performed between sleep and anthropometric parameters. RESULTS: Shorter sleep duration was associated with higher BMI and waist and neck circumference when measured by Acti and PSG (p<0.05). Lower leptin levels were associated with short sleep in normal-weight (BMI>18 and ⩽25) individuals (p<0.01). The association between short sleep duration Acti and higher BMI was present when apnea-hypopnea index (AHI) was less than 15 (p=0.049). Shorter REMS and SWS also were associated with higher BMI (p<0.01). Normal-weight individuals tended to sleep longer, have higher sleep efficiency and longer SWS and REMS than obese individuals (Acti, PSG; p=0.05). Sleep duration was negatively correlated with BMI (Acti, PSG; p<0.05). Short SWS and REMS were associated with higher cardiovascular risk factors (p<0.05). CONCLUSION: Shorter sleep, SWS, and REMS duration were associated with higher BMI, central adiposity measurements, and cardiovascular risk factors when measured by objective methods.

Does menopause influence nocturnal awakening with headache?

OBJECTIVE: The aim of the present study was to assess whether menopausal status influences the occurrence of nocturnal awakening with headache (NAH) in the female population of Sao Paulo, Brazil. We also examined the relationship of this complaint to sociodemographic determinants, hot flushes, sleep quality and parameters, anxiety and depressive symptoms, somnolence and fatigue according to menopausal status. METHODS: The female population of the Sao Paulo Epidemiologic Sleep Study (EPISONO) (n = 576) was divided according to menopausal status (pre-, peri-, early and late menopause) based on questionnaires and hormonal blood measures. The complaint of waking up because of a headache at least once a week was assessed by the UNIFESP Sleep questionnaire. Additionally, hot flushes, sleep complaints, anxiety and depressive symptoms, somnolence and fatigue were assessed by specific questionnaires. A full-night polysomnography assessed sleep parameters. RESULTS: The prevalence of NAH in women in the Sao Paulo population was 13.3%. Perimenopause was associated with a higher risk of having NAH (odds ratio 13.9; 95% confidence interval 4.3-45.2). More complaints of NAH were observed in obese women. All the groups with NAH showed more hot flushes, worse subjective sleep quality, more complaints of insomnia, anxiety symptoms and fatigue. CONCLUSIONS: We observed a constellation of symptoms in women according to menopausal status and NAH that included hot flushes, sleep complaints, more anxiety symptoms and fatigue. Moreover, some of these symptoms were more frequent in perimenopausal women with NAH. Therefore, we concluded that menopausal status influences NAH and the women in perimenopause presented a high risk of having this complaint.

Sleep pattern in women with menstrual pain.

BACKGROUND: Menstrual pain is a common problem in women of reproductive age and often interferes with the ability to work and with general well-being. Because painful conditions frequently affect sleep, we investigated the impact of this menstrual disorder on sleep patterns in adult women. Additionally, we examined whether medications used to alleviate menstrual pain promoted changes in sleep. METHODS: According to their hormone profiles and menstrual histories, a total sample of 24 women (25-48 years old) who were experiencing their menstrual periods on the day of the polysomnogram (PSG) were included in the study. All of the participants answered questions regarding the presence of menstrual pain and use of medication. RESULTS: Menstrual pain was reported by 66.6% of the women on the night of the PSG. No marked effects were observed on the sleep pattern of these subjects compared with women without menstrual pain. The use of medication did not promote significant changes in the sleep pattern. None of the women were taking oral contraceptives. CONCLUSIONS: The presence of menstrual pain or the use of medication to alleviate pain did not significantly alter sleep patterns. Thus, the results suggest that the presence of self-described menstrual pain does not affect sleep patterns in adult women.

Apolipoprotein E polymorphisms and sleep quality in obstructive sleep apnea syndrome.

BACKGROUND: The purpose of this study was to evaluate the influence of polymorphism on sleep parameters of Obstructive Sleep Apnea Syndrome (OSAS) patients. METHODS: Patients were genotyped after a full-night polysomnography using the large Epidemiologic Sleep Study of São Paulo population-based sample. RESULTS: Individuals who carry the APOE ε2 allele showed longer sleep latency, lower sleep efficiency and higher numbers of arousals/hour, when compared to ε3 allele homozygous and carriers of ε4 allele (p<0.05). These findings remained significant even after correction for potential confounders, such as sex, age and African genetic ancestry. CONCLUSION: The APOE polymorphisms may modulate the effects of intermittent hypoxia and sleep fragmentation in the sleep architecture of OSAS patients, and that the presence of the ε2 allele may serve as a biological marker for the identification of a subgroup of patients who are more likely to suffer with OSAS detrimental effects on sleep, impacting not only the daily functioning, but also their quality of life.

The Prospective and Retrospective Memory Questionnaire: a population-based random sampling study.

The Prospective and Retrospective Memory Questionnaire (PRMQ) has been shown to have acceptable reliability and factorial, predictive, and concurrent validity. However, the PRMQ has never been administered to a probability sample survey representative of all ages in adulthood, nor have previous studies controlled for factors that are known to influence metamemory, such as affective status. Here, the PRMQ was applied in a survey adopting a probabilistic three-stage cluster sample representative of the population of Sao Paulo, Brazil, according to gender, age (20-80 years), and economic status (n=1042). After excluding participants who had conditions that impair memory (depression, anxiety, used psychotropics, and/or had neurological/psychiatric disorders), in the remaining 664 individuals we (a) used confirmatory factor analyses to test competing models of the latent structure of the PRMQ, and (b) studied effects of gender, age, schooling, and economic status on prospective and retrospective memory complaints. The model with the best fit confirmed the same tripartite structure (general memory factor and two orthogonal prospective and retrospective memory factors) previously reported. Women complained more of general memory slips, especially those in the first 5 years after menopause, and there were more complaints of prospective than retrospective memory, except in participants with lower family income.

Influence of genetic ancestry on the risk of obstructive sleep apnoea syndrome.

The aim of the present study was to evaluate the influence of ethnicity on the risk of developing obstructive sleep apnoea syndrome (OSAS) using genomic analysis methods to estimate ancestry. DNA samples were obtained from 1,010 individuals participating in the São Paulo Epidemiologic Sleep Study, who underwent full-night polysomnography. A total of 31 genetic ancestry-informative markers were selected in order to estimate individual admixture proportions. Of patients with a diagnosis of OSAS, a higher number self-reporting Caucasian ethnicity (65.3%), as well as an increased percentage of European ancestry (78.2±16.7%) and lower percentage of West African ancestry (16.1±15.3%), than among individuals without OSAS (53.6, 73.5±18.1 and 20.1±16.8%, respectively) (p<0.001) was observed. Moreover, after correcting for sex, age, body mass index and socioeconomic status, logistic regression demonstrated that European ancestry was significantly associated with an increased risk of manifesting OSAS (OR 2.80, 95% CI 1.11-7.09). Conversely, West African ancestry was associated with a reduced risk of the OSAS phenotype (OR 0.26, 95% CI 0.09-0.72). This is the first study to incorporate genomic analysis methods to measure the influence of ethnicity on the risk of OSAS. Since genetically determined ancestry may not capture unmeasured cultural and lifestyle differences, the contribution of environmental factors to the current findings should not be disregarded.

Does the reproductive cycle influence sleep patterns in women with sleep complaints?

OBJECTIVE: The aim of the present study was to investigate how prominent gynecological factors (regular/irregular menstrual cycle, premenstrual complaints, or menopause) can influence both subjective and objective sleep data. METHODS: A total of 931 women who sought clinical assistance because of a sleep complaint were included in the investigation. All subjects filled out a sleep and gynecological questionnaire prior to undergoing a polysomnography (PSG) recording. RESULTS: Premenopausal women with an irregular menstrual cycle were more likely to report sleep difficulties (related to falling sleep and insomnia symptoms) than those with a regular cycle (odds ratio 2.1; 95% confidence interval 1.2-3.5). These women showed increased light sleep stages and awakenings. Premenstrual complaints were reported by a higher percentage of women with periodic leg movement, lower time in saturation under 90%, and higher sleep efficiency. A lower percentage of women who took hormonal contraceptives reported snoring, had fewer arousals and longer REM latency compared to those not taking hormonal contraceptives. Menopausal women with hot flushes had more restless leg complaints. Awake time was shorter in hormone therapy users compared with non-users. Women with menopause are more likely to have an apnea-hypoapnea index greater than 5/h. CONCLUSION: The present findings suggest that gynecological status is associated with subjective sleep quality and objective sleep parameters in women with sleep complaints.