Human bedside evaluation versus automatic responsiveness testing in epilepsy (ARTiE)

Evaluation of behavioral impairment during epileptic seizures is critical for medical decision making, including accurate diagnosis, recommendations for driving, and presurgical evaluation. We investigated the quality of behavioral testing during inpatient video–electroencephalography (EEG) monitoring at an established epilepsy center, and introduce a technical innovation that may improve clinical care. We retrospectively reviewed video‐EEG data from 152 seizures in 33 adult or pediatric patients admitted for video‐EEG monitoring. Behavioral testing with questions or commands was performed in only 50% of seizures ictally, 73% of seizures postictally, and 80% with either ictal or postictal testing combined. Furthermore, the questions or commands were highly inconsistent and were performed by nonmedical personnel in about one fourth of cases. In an effort to improve this situation we developed and here introduce Automatic Responsiveness Testing in Epilepsy (ARTiE), a series of video‐recorded behavioral tasks automatically triggered to play in the patient's room by computerized seizure detection. In initial technical testing using prerecorded or live video‐EEG data we found that ARTiE is initiated reliably by automatic seizure detection. With additional clinical testing we hope that ARTiE will succeed in providing comprehensive and reliable behavioral evaluation during seizures for people with epilepsy to greatly improve their clinical care.     

Distribution of SDF1-3’A polymorphisms in three different ethnic groups from Brazil

A mutation described as a G-to-A transition has been reported in SDF-1 gene (SDF1-3’A), being prevalent in all ethnic groups, except in Africans. This mutation is associated with the onset of AIDS progression. Our aim was to identify the frequency of this allele in different groups from Brazil: Tiriyó and Waiampi Amerindian tribes (Asian ancestry); selected blood donors from Joinville (German descendents); and from Salvador (predominance of African and Portuguese mixture). SDF1-3’A was screened by PCR/RFLP with MspI enzyme. Our results showed a high allelic frequency in Tiriyó tribe (0.24) and Joinville population (0.21), and a frequency of 0.17 and 0.05 in the Salvador population and in the Waiampi tribe, respectively. There was no statistical difference among the allelic frequencies in the studied ethnic groups, except in the Waiampi. Due to the great genetic diversity among Brazilian population and the lack of studies on SDF1-3’A allele, our study of this allelic frequency in these different Brazilian ethnic groups could be important to identification of biomarker for therapeutic support in progression to AIDS and a molecular marker for analysis of evolutionary relationships among human populations.     

Reversible Kallmann syndrome: report of the first case with a KAL1 mutation and literature review

Kallmann syndrome (KS) describes the association of isolated hypogonadotropic hypogonadism with hypo/anosmia. A few KS patients may reverse hypogonadism after testosterone withdrawal, a variant known as reversible KS. Herein, we describe the first mutation in KAL1 in a patient with reversible KS and review the literature. The proband was first seen at 22 years complaining of anosmia and lack of puberty. His brother had puberty at 30 years and a maternal granduncle had anosmia and delayed puberty. On physical examination, he was P(2)G(1), testes were 3 ml and bone age was 14 years. During 20 years of irregular testosterone replacement, he developed secondary sexual characteristics and testicular enlargement. At the age of 41 years, after stopping testosterone replacement for 5 months, his testes were 15 ml, serum testosterone, LH, and FSH responses to GnRH were normal, and his wife was pregnant. The molecular study revealed a cytosine insertion in exon 2 of KAL1, generating a frameshift at codon 75 and a premature stop at codon 85. The expected gene product is a truncated peptide with 85 of the 680 [corrected] amino acids present in the wild-type protein. Fourteen cases of reversible KS have been described but the genotype was only studied in a single case showing a heterozygous fibroblast growth factor receptor type 1 (FGFR1) mutation. Considering the low prevalence of mutations in KAL1 or FGFR1 in KS, it is possible that these genotypes are more prevalent in reversible KS than in other KS patients, but additional studies are necessary to confirm this hypothesis.     

Endoscopic findings in the excluded stomach after Roux-en-Y gastric bypass surgery

HYPOTHESIS: After gastric bypass surgery performed because of morbid obesity, the excluded stomach can rarely be endoscopically examined. With the advent of a new apparatus and technique, possible mucosal changes can be routinely accessed and monitored, thus preventing potential benign and malignant complications. DESIGN: Prospective observational study in a homogeneous population with nonspecific symptoms. SETTING: Outpatient clinic of a large public academic hospital. PATIENTS: Forty consecutive patients (mean +/- SD age, 44.5 +/- 10.0 y ears; 85.0% women) were seen at a mean +/- SD of 77.3 +/- 19.4 months after Roux-en-Y gastric bypass surgery. INTERVENTION: Elective double-balloon enteroscopy of the excluded stomach was performed. MAIN OUTCOME MEASURES: Rate of successful intubation, endoscopic findings, and complications. RESULTS: The excluded stomach was reached in 35 of 40 patients (87.5%). Mean +/- SD time to enter the organ was 24.9 +/- 14.3 minutes (range, 5-75 minutes). Endoscopic findings were normal in 9 patients (25.7%), whereas in 26 (74.3%), various types of gastritis (erythematous, erosive, hemorrhagic erosive, and atrophic) were identified, primarily in the gastric body and antrum. No cancer was documented in the present series. Tolerance was good, and no complications were recorded during or after the intervention. CONCLUSIONS: The double-balloon method is useful and practical for access to the excluded stomach. Although cancer was not noted, most of the studied population had gastritis, including moderate and severe forms. Surveillance of the excluded stomach is recommended after Roux-en-Y gastric bypass surgery performed because of morbid obesity.     

Validation of a Portable Monitoring System for the Diagnosis of Obstructive Sleep Apnea Syndrome

Study Objective:

To evaluate if a portable monitor could accurately measure the apnea-hypopnea index (AHI) in patients with a suspicion of obstructive sleep apnea (OSA).

Design:

Prospective and randomized.

Setting:

Sleep laboratory.

Participants:

80 participants: 70 patients with clinical OSA suspicion and 10 subjects without suspicion of OSA.

Interventions:

N/A

Measurements and Results:

Three-order randomized evaluations were performed: (1) STD (Stardust II) used at the participants'' home (STD home), (2) STD used simultaneously with PSG in the sleep lab (STD+PSG lab), and (3) PSG performed without the STD (PSG lab). Four AHI values were generated and analyzed: (a) STD home; (b) STD from STD+PSG lab; (c) PSG from STD+PSG (named PSG+STD lab); and (d) PSG lab. Two technicians, blinded to study details, performed the analyses of all evaluations. There was a strong correlation between AHI from the STD and PSG recordings for all 4 AHI values (all correlations above 0.87). Sensitivity, specificity, and positive and negative predictive values at AHI cut-off values of 5, 15, and 30 events/hour were calculated. AHI values from the PSG lab and PSG+STD lab were compared to STD home and STD+PSG lab and showed the best results when STD and PSG were performed simultaneously. In all analyses, the area under ROC curve was at least 0.90. With multiple comparisons, diagnostic agreement was between 91% and 75%. The Bland Altman analyses showed strong agreement between AHI values from the STD and PSG recordings, especially when comparing the AHI from simultaneous STD and PSG recordings.

Conclusion:

These data suggest that the STD is accurate in confirming the diagnosis of OSA where there is a suspicion of the disorder. Better agreement occurred during simultaneous recordings.

Citation:

Santos-Silva R; Sartori DE; Truksinas V; Truksinas E; Alonso FFFD; TufikS; Bittencourt LRA. Validation of a portable monitoring system for the diagnosis of obstructive sleep apnea syndrome. SLEEP 2009;32(5):629-639.     

Sao Paulo Epidemiologic Sleep Study: Rationale,design, sampling,and procedures

ObjectivesTo present the rational design, sampling, and procedures utilized in an Epidemiologic Sleep Study carried out in 2007 to establish the epidemiologic profile of sleep disorders in the adult population of a large metropolitan city, Sao Paulo, Brazil.MethodsA population-based survey adopting a probabilistic three-stage cluster sample of Sao Paulo was used to represent the population according to gender, age (20–80 years), and socioeconomic class. Questionnaires, actigraphy, polysomnography (PSG), and blood samples were collected to investigate associations between sleep patterns and disturbances according to social-demographic status, activity/rest cycle, physical activity habits, mood disturbances, memory complaints, sexual dysfunction in males, drug addiction, genetic markers, and anthropometric, clinical, biochemical, hematological, endocrine, immunologic, and inflammatory indicators.ResultsA total of 1101 questionnaires were administered at home. A total of 156 volunteers were substituted, who were equivalent to the remaining sample in terms of age, gender, and socioeconomic class. A total of 1042 volunteers underwent PSG recordings at a Sleep Institute, and the refusal rate was 5.4%.ConclusionThe Sao Paulo Sleep Study is a pioneering investigation, incorporating and integrating up-to-date methodologies for understanding sleep profiles and sleep disorders in large populations. This study will provide reliable information for the planning of health policies and programs aimed to control such disorders and their consequences in the city of Sao Paulo and similar urban environments.     

Measuring clinically significant chemotherapy-related toxicities using Medicare claims from Cancer and Leukemia Group B (CALGB) trial participants

BACKGROUND: Because the elderly are underrepresented on clinical trials, physicians have few sources of information to estimate the risks (ie, toxicities) and benefits of chemotherapy administration to the elderly. OBJECTIVE: Our goal was to determine whether the standard measures of toxicity used in clinical trials could be captured from observational Medicare claims data. METHODS: We identified 175 elderly clinical trial patients treated on 2 Cancer and Leukemia Group B (CALGB) trials (9344, adjuvant breast study and 9730, advanced lung cancer study) and merged participants' CALGB data with their Medicare data. From CALGB data, we identified the most frequent Extended Clinical Toxicity Critieria grade III/IV toxicities. We reviewed diagnostic and procedure codes from Medicare manuals, developed algorithms to measure the toxicities, and then finalized the algorithms after empiric review of patients' codes. We compared results of Medicare algorithms to gold standard CALGB toxicity information to calculate test characteristics. RESULTS: CALGB data documented that 15 grade III/IV chemotherapy-related toxicities occurred in > or =3% of the 175 patients: white blood cell, hemoglobin, platelets, anorexia, nausea, vomiting, diarrhea, stomatitis, sensory neuropathy, motor neuropathy, motor or sensory neuropathy, dyspnea, hyperglycemia, infection, and malaise. Vomiting was the only toxicity identified by the Medicare-based algorithm with a sensitivity, specificity, and area under the receiver operator curve of > or =80%. CONCLUSIONS: The results of this preliminary study suggest that Medicare diagnostic and procedure codes may be of only limited value in measuring clinically significant chemotherapy-related toxicities in elderly Medicare beneficiaries. Future research includes confirming these findings in a larger and more diverse sample.     

Developmental effects of Tityus serrulatus scorpion venom on the rat offspring

Scorpion envenomation is a public health problem. Extensive research has been conducted to describe the systemic effects of scorpion venoms and their toxins, however, few reports are available about their effects on pre- and post-natal periods. Whole venom of the Tityus serrulatus scorpion was administered to rats on the 10th and 16th days of pregnancy to determine the effect on physical, reflexive and behavioral development of offspring. Thirty female Wistar rats were mated and distributed into three groups with one control group (C) and two experimental groups that were injected with venom (1 mg/kg) on the 10th (GD10) or the 16th day (GD16) of pregnancy. After birth, the litter was standardized (eight pups for dam) and the rat pups were submitted to physical and behavioral analysis. A greater weight gain was observed on the 20th day of life (PN20) in the female and male pups of the two experimental groups compared to controls. In the GD16 group, a delay in ear opening and acceleration in ear unfolding were observed. In relation to reflexive development, an increased time for palmar grasp reflex was observed on PN8 in GD16. For this group, there was a decrease in the time of righting reflex on PN4 and PN6, and of negative geotaxis on PN6, PN8 and PN10. In conclusion, scorpion venom administered to pregnant rats on specific gestational days and at a dose that simulates a small accident, results in alterations in some reflex and physical parameters in their offspring.