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Balance between sleep, wakefulness and arousal is important for survival of organisms and species as a whole. While, the benefits of sleep both in terms of quantity and quality is widely recognized across species, sleep has a cost for organismal survival and reproduction. Here we focus on how sleep duration, sleep depth and sleep pressure affect the ability of animals to engage in courtship and egg-laying behaviors critical for reproductive success. Using isogenic lines from the Drosophila Genetic Reference Panel with variable sleep phenotypes we investigated the relationship between sleep and reproductive behaviors, courtship and oviposition. We found that three out of five lines with decreased sleep and increased arousal phenotypes, showed increased courtship and decreased latency to court as compared to normal and long sleeping lines. However, the male courtship phenotype is dependent on context and genotype as some but not all long sleeping-low courting lines elevate their courtship in the presence of short sleeping-high courting flies. We also find that unlike courtship, sleep phenotypes were less variable and minimally susceptible to social experience. In addition to male courtship, we also investigated egg-laying phenotype, a readout of female reproductive output and find oviposition to be less sensitive to sleep length and parameters that are indicative of switch between sleep and wake states. Taken together our extensive behavioral analysis here shows complex bidirectional interactions between genotype and environment and add to the growing evidence linking sleep duration and sleep-wake switch parameters to behavioral decision making critical to reproductive output., (Copyright © 2021 The Author(s). Published by Elsevier Inc. All rights reserved.)

Objectives: The purpose of this cross-sectional study was to investigate whether polymorphisms in vitamin D receptor (VDR) genes increase the prevalence of dental caries, molar incisor hypomineralization (MIH), and hypomineralized primary second molars (HPSM)., Material and Methods: A representative population-based sample of 731 schoolchildren, 8 years of age, was randomly selected in Curitiba, Paraná, Brazil. MIH, HPSM, and dental caries were clinically assessed by four calibrated examiners (kappa > 0.80) using European Academy of Pediatric Dentistry (2003) criteria, the modified Developmental Defects of Enamel (DDE) index, and the Decayed, Missing, or Filled Teeth (DMFT) index by the World Health Organization (2013), respectively. The VDR rs739837 and rs2228570 polymorphisms were genotyped using real-time polymerase chain reaction. Associations were analyzed by Poisson regression with robust variance (α = 0.05)., Results: Schoolchildren with MIH presented a higher prevalence of dental caries (DMFT > 1, PR = 2.52, confidence interval = 1.60-3.97, p ≤ 0.001). No association was observed between MIH, HPSM, and dental caries, with rs739837 and rs2228570 polymorphisms. Individuals with the GT/GG genotype in rs739837 polymorphism presented a higher prevalence of MIH in molars and incisors than individuals TT (PR = 2.34, confidence interval = 1.08-5.07, p = 0.03)., Conclusion: Children with MIH presented a significant higher prevalence of dental caries than children without MIH. To carry at least one G allele in rs739837 was associated to higher prevalence of MIH in molars and incisors., Clinical Relevance: Our findings suggested that more severe cases with incisors affected by MIH could be associated with polymorphism in VDR gene.

Introduction: Lysosomal acid lipase deficiency (LAL-D) causes progressive cholesteryl ester and triglyceride accumulation in the lysosomes of hepatocytes and monocyte-macrophage system cells, resulting in a systemic disease with various manifestations that may go unnoticed. It is indispensable to recognize the deficiency, which can present in patients at any age, so that specific treatment can be given. The aim of the present review was to offer a guide for physicians in understanding the fundamental diagnostic aspects of LAL-D, to successfully aid in its identification., Methods: The review was designed by a group of Mexican experts and is presented as an orienting algorithm for the pediatrician, internist, gastroenterologist, endocrinologist, geneticist, pathologist, radiologist, and other specialists that could come across this disease in their patients. An up-to-date review of the literature in relation to the clinical manifestations of LAL-D and its diagnosis was performed. The statements were formulated based on said review and were then voted upon. The structured quantitative method employed for reaching consensus was the nominal group technique., Results: A practical algorithm of the diagnostic process in LAL-D patients was proposed, based on clinical and laboratory data indicative of the disease and in accordance with the consensus established for each recommendation., Conclusion: The algorithm provides a sequence of clinical actions from different studies for optimizing the diagnostic process of patients suspected of having LAL-D., (Copyright © 2017 Asociación Mexicana de Gastroenterología. Publicado por Masson Doyma México S.A. All rights reserved.)

Background: Nutcracker syndrome caused by compression of the left renal vein between the aorta and superior mesenteric artery is a non-glomerular cause of left renal bleeding and left varicocele. It has also been recognized to be an important cause of orthostatic proteinuria., Case Report: A 17-year-old male was evaluated due to recurrent macroscopic hematuria. Physical examination showed left varicocele. Body mass index 16.3 kg/m2. Urinalysis demonstrated hematuria and massive proteinuria. Renal biopsy showed mild mesangial glomerular proliferation. Cystoscopy showed hematuria originating from the left ureter. Doppler ultrasonography and contrast-enhanced computed angiotomography revealed a peak velocity of the left renal vein of 20cm/s, ratio of peak velocity of aortomesenteric and hilar portions of left renal vein of 7.7 and enlargement of the left renal vein in the hilar portion. With a diagnosis of nutcracker syndrome, the patient received conservative treatment. During follow-up, progressive remission of the recurrent episodes of hematuria and proteinuria was observed. The patient had no clinical symptoms or abnormal urinalysis. At 13 months of follow-up the body mass index was 19 kg/m2., Conclusions: This case shows the relationship between the increase in body mass index and remission of nutcracker syndrome, manifested as left varicocele, hematuria and massive proteinuria. All symptoms disappeared with the increase of body mass index, probably due to increase in retroperitoneal fat with improvement of the aortomesenteric angle of the left renal vein., (Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.)

Background and Objective: The aim of this study was to determine the prevalence of and risk factors associated with COPD in a rural setting in the Philippines., Methods: The study was conducted in two municipalities in Nueva Ecija province in the Philippines. Using the Burden of Obstructive Lung Disease (BOLD) protocol and study design, non-hospitalized men or women, aged 40years or older, were recruited by multi-stage random sampling procedures. Participants completed questionnaires on respiratory symptoms and exposure to potential risk factors for COPD, including smoking, occupation and exposure to burning of biomass fuel. Spirometry was performed according to American Thoracic Society criteria., Results: Of the 1188 individuals selected for recruitment, 722 had acceptable post-bronchodilator spirometry and were classified according to Global Initiative for Chronic Obstructive Lung Disease (GOLD) stage. The overall prevalence of COPD for all stages was 20.8%. The prevalence of COPD at GOLD Stage I or higher was greater in men compared with women (26.5% vs 15.3%), and increased between the ages of 40 to >70years. Logistic regression analysis showed a significant association between all stages of COPD and farming for >40years (odds ratio (OR) 2.48, 95% confidence interval (CI): 1.43-4.30), use of firewood for cooking for >60years (OR 3.48, 95% CI: 1.57-7.71), a smoking history of ≥20 pack-years (OR 2.86; 95% CI: 1.78-4.60), and a history of tuberculosis (OR 6.31, 95% CI: 2.67-15.0)., Conclusions: The prevalence COPD in a rural community in Nueva Ecija, Philippines was 20.8% for GOLD Stage I or higher, and 16.7% for GOLD Stage II or higher. In addition to smoking history, the use of firewood for cooking, working on a farm and a history of tuberculosis were significantly associated with fixed airflow obstruction, as assessed by spirometry., (© 2011 The Authors. Respirology © 2011 Asian Pacific Society of Respirology.)

Outdoor carbon monoxide comes mainly from vehicular emissions, and high concentrations occur in areas with heavy traffic congestion. CO binds to hemoglobin, forming carboxyhemoglobin (COHb), and reduces oxygen delivery. We investigated the link between the adverse effects of CO on the respiratory system using COHb as a marker for chronic CO exposure. We examined the relationship between acute respiratory infections (ARIs) and COHb concentrations in school-age children living in urban and suburban areas of Quito, Ecuador. We selected three schools located in areas with different traffic intensities and enrolled 960 children. To adjust for potential confounders we conducted a detailed survey. In a random subsample of 295 children, we determined that average COHb concentrations were significantly higher in children attending schools in areas with high and moderate traffic, compared with the low-traffic area. The percentage of children with COHb concentrations above the safe level of 2.5% were 1, 43, and 92% in low-, moderate-, and high-traffic areas, respectively. Children with COHb above the safe level are 3.25 [95% confidence interval (CI), 1.65-6.38] times more likely to have ARI than children with COHb < 2.5%. Furthermore, with each percent increase in COHb above the safety level, children are 1.15 (95% CI, 1.03-1.28) times more likely to have an additional case of ARI. Our findings provide strong evidence of the relation between CO exposure and susceptibility to respiratory infections.

This study evaluated the impact of a new epoetin alfa dosing regimen on quality of life (QOL), transfusion requirements, and hemoglobin (Hb) levels in 133 patients with low-risk myelodysplastic syndrome (MDS) and Hb < or =10 g/dl. Epoetin alfa 40,000 IU was given subcutaneously twice weekly; after 4 weeks, the dose could be reduced to 40,000 IU weekly in patients achieving erythroid response. QOL was assessed using the functional assessment of cancer therapy-anemia (FACT-An) questionnaire. FACT-An scores increased on average by 7.5 after 4 weeks and by 8.8 after 8 weeks compared with baseline. FACT-An scores were positively associated with Hb values (r=0.53, P<0.01). The mean FACT-An score increase at week 8 was 10.2 in responders and 5.6 in nonresponders. The overall erythroid response rate at week 8 was 68%: 74% in transfusion-independent patients and 59% in transfusion-dependent patients. Of all responders at week 8, response was maintained in 86% at week 12, 71% at week 16, 65% at week 20, and 54% at week 24. Treatment was generally well tolerated. Our data provide new and encouraging results regarding the benefits of 40,000 IU biweekly induction doses followed by 40,000 IU weekly in improving QOL, correcting anemia, and reducing transfusion requirements in low-risk MDS patients.

The International Rice Information System (IRIS, http://www.iris.irri.org) is the rice implementation of the International Crop Information System (ICIS, http://www.icis.cgiar.org), a database system for the management and integration of global information on genetic resources and germplasm improvement for any crop. Building upon the germplasm genealogy and field data components of ICIS, IRIS is being extended to handle diverse rice genomics data including: genetic mapping, genome annotation, genotype, mutant, transcripteome, proteome and metabolomic data. Users can access information in the database through stand-alone programs and WWW interfaces offering specialist views to researchers with different interests.

Sex-linked dystonia parkinsonism (XDP) was reported by Lee et al. in 1975 occurring endemically in Panay, Philippines. It is an adult onset, sex-linked, predominantly male, severe, progressive movement disorder with high penetrance and a high frequency of generalization. The movement disorder is characterized by dystonic movements usually starting in the third or fourth decade, focal at the onset, spreading to generalization within 2-5 years. The dystonia co-exist or is replaced by parkinsonism usually beyond the 10th year of illness. As of June 2001, 376 XDP cases have been registered. One hundred and fifteen cases have died. The prevalence of XDP in the island of Panay is 5.24 per 100,000; 0.34/100,000 in the general population. The prevalence varies in the different provinces; it is highest in Capiz at 18.88/100,000, 7.46/100,000 in Aklan, 1.28 in Iloilo and 0.83 in Antique. The 376 cases are from 188 families and 92% of cases have positive family history. Ninety-nine percent of the cases are males. The mean age of onset is 39.48 years. Duration of illness is 12.95 years. Ninety-four percent of patients initially manifest with dystonic symptoms, while only 6% present with Parkinsonian traits. Among those presenting with dystonia, the initial presentation is in the lower extremities in 33%, craniofacial in 27%, cervical and shoulder in 25%, upper extremities in 14%, and trunk in 1%. Regardless of the site of onset, the dystonia spreads in 98% and generalizes within 5 years in 84%. Neuroimaging (magnetic resonance imaging, MRI) was done in 16 patients. In the patients who have just manifested the disease usually when dystonia predominates and parkinsonism is absent. MRI showed minimal atrophy of the caudate and putamen or subtle putaminal signal abnormality. In the late course, where Parkinsonism predominates, severe atrophy of the caudate and putamen as well as marked increase in signal abnormality are seen. There are six autopsied cases of XDP. Neuropathology revealed marked atrophy of the caudate and putamen mostly in the cases with longstanding illness. The sex-linked pattern of inheritance has been established. Genetic studies have located the affected gene (DYT3) to Xq13.1. Nemeth's group has mapped the XDP gene to a <350 kb locus in the DXS 7117-DX 559 region. To date, no treatment has been proven consistently effective., (Copyright 2002 Elsevier Science Ltd.)

Sex linked dystonia parkinsonism (XDP), also referred to as "lubag" in American literature, was described in 1975 occurring endemically in Panay, Philippines. It is an adult onset, sex linked, predominantly male, severe, progressive movement disorder with high penetrance and a high frequency of generalisation. The movement disorder is characterised by dystonic movements, usually starting in the 3rd or 4th decade, spreading to generalisation within two to five years. The dystonia coexists or is replaced by parkinsonism usually beyond the 10th year of illness. No treatment has been found to be effective. Neuroimaging shows caudate and putamenal atrophy in patients reaching the parkinsonian stage. Neuropathology reveals pronounced atrophy of the caudate and putamen, mostly in the cases with long standing illness. The sex linked pattern of inheritance has been established. Genetic studies have located the affected gene (DYT3) to Xq13.1, with one group mapping the XDP gene to a < 350 kb locus in the DXS 7117-DXS 559 region.

Introduction and Objectives: The aim of this study was to determine the potential usefulness of malondialdehyde and nitric oxide as sensors of metabolic damage produced during acute coronary ischaemics events., Methods: Serum malondialdehyde and nitric oxide levels were determined as thiobarbituric acid derivative and nitrites respectively in 15 male patients who were admitted to the emergency ward of the Hospital General del Sur de Maracaibo, because of acute stage of myocardial infarction., Results: Our results show, upon follow-up and afterwards 30 days a highly significant increase in the malondialdehyde level during the acute phase of myocardial infarction (1.87 +/- 0.29 vs 45.47 +/- 8.67 mM; p < 2.01 10-5) that returns to normal levels 30 days after myocardial infarction when compared with healthy subjects of the same age (1.87 +/- 0.29 vs 4.58 +/- 1.43 mM). As for nitric oxide, levels also increased significantly during the acute phase of myocardial infarction (41.25 +/- 3.59 vs 164.63 +/- 12.7, p < 2.13 10-10 mM) and diminished significantly when compared with healthy adults of the same age 30 days after the acute event (41.25 +/- 3.59 vs 40.85 +/- 4.50 mM)., Conclusions: Our results show that serum levels of malondialdehyde and nitric oxide increased significantly during acute infarction, coming back to normal levels 30 days after infarction, which suggest that both substances are potential tools to predict cardiac function recovery.

In this paper we have analysed the behaviour of myelodysplastic marrow in a long-term bone marrow liquid culture system (LTBMC) from eleven patients with myelodysplastic syndromes with regard to cellularity, day-7 and day-14 CFU-GM growth, cluster formation, adherent cells and CFU-F formation. An altered CFU-GM pattern was found in 64% of cases at diagnosis, while normal growth was seen in the remaining cases, all of which were affected by refractory anaemia. The levels of CFU-GM, as well as cellularity, were reduced in myelodysplastic marrows compared to normal controls over the whole duration of LTBMCs. Cases with a normal CFU-GM level at diagnosis also showed pathological behaviour when examined in LTBMC. The duration of dysplastic haematopoiesis was significantly shorter than that of controls. The proliferative ability of CFU-F was reduced in 50% of cases as shown by replating experiments. In conclusion, myelodysplastic marrow shows an abnormal behaviour in LTBMC, even in those cases which present normal CFU-GM growth at diagnosis.