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Background: During Ramadan, many patients with diabetes, renal, cardiovascular, gastrointestinal diseases, headaches, and epilepsy choose to fast even against their doctor's advice. The impact of this intermittent fasting on health and disease could be different in men and women. The aim of this study was to determine the effect of sex as a factor in diseases outcomes of patients who opt to fast during Ramadan. Main Body: The articles included in this study reported data on six diseases: diabetes, renal, cardiovascular, gastrointestinal diseases, headaches, and epilepsy. A systematic search was performed on PubMed and Scopus for observational and clinical studies mentioning Ramadan, diabetes, renal, cardiovascular, gastrointestinal diseases, headaches, and epilepsy in both men and women. Data was extracted by two independent reviewers using a standardized data-collection form. From 381 original articles, 38 studies were selected, including 25,023 patients of which 44.4% were women. Sex-based differences were reported by 18 studies for several variables such as body mass index, blood glucose, the frequency of hypoglycemia, renal colic, mortality, thrombosis, and gastrointestinal diseases in patients fasting during Ramadan. Most of the differences between men and women were reported both in the baseline period before Ramadan and during Ramadan. Indeed, during the period outside Ramadan, the frequency of renal colic, cardiovascular, gastrointestinal diseases, were higher in men; while body mass index, Thrombosis, and headache were higher in women. In the remaining 21 studies, it was reported that the sex factor was not associated with the effect of Ramadan fasting in the frequency and other outcomes of these diseases. Conclusion: Currently, small attention is paid to sex as a determinant factor in patients while fasting during Ramadan. There appeared to be differences in the frequency and incidence of diseases in men and women during Ramadan. Closer attention to sex differences regarding the frequency and the progression of the diseases during fasting may help to improve patient care, especially to benefit those patients willing to fast during Ramadan.
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PURPOSE: Epilepsy is a common serious brain condition characterized by the abnormal electrical activity of neurons. In most cases, epileptic patients respond to antiepileptic drugs. Approximately, one-third of patients prove medically intractable. The ABCB1 gene is a superfamily of ATP-binding cassette (ABC) transporters that encode a drug-transport protein, lead to cells and organs protects and eliminates toxic agents. We performed this meta-analysis to assess the association between G2677T/A in the ABCB1 gene and the risk of drug resistance in epileptic patients. METHODS: Two online libraries (PubMed and Scopus) were used to identify studies that report the relationship between G2677T/A polymorphism in the MDR1 gene and the risk of antiepileptic drug resistance. The meta-analysis was performed using Review Manager 5.3 software. The pooled odds ratios and 95 % confidence intervals (CIs) were calculated using a random or fixed effects model according to the heterogeneity between studies. RESULTS: A total of 33 eligible studies were included in this meta-analysis which 4192 patients were drug-resistant and 5079 patients were drug-responsive. As a result, a significant association was observed in overall population for the genetic model GG+GA vs AA (OR with 95 % CI = 0,56 [0.34,0.93]; P = 0.02). The subgroup ethnicity analysis showed a significant decrease in the risk of AEDs resistance in the Caucasian population. CONCLUSION: In conclusion, our analysis demonstrates that G2677T/A polymorphism in the ABCB1 gene decreases the risk of drug resistance. More studies are needed in the different ethnic groups to clarify the role of polymorphism in AEDs resistance.
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Subfamilia B de Transportador de Casetes de Unión a ATP/genética , Epilepsia Refractaria , Epilepsia , Anticonvulsivantes/uso terapéutico , Resistencia a Medicamentos/genética , Epilepsia Refractaria/tratamiento farmacológico , Epilepsia Refractaria/genética , Epilepsia/tratamiento farmacológico , Epilepsia/genética , Genotipo , Humanos , Polimorfismo de Nucleótido Simple/genéticaRESUMEN
Intellectual disability is characterized by a significant impaired intellectual and adaptive functioning, affecting approximately 1-3% of the population, which can be caused by a variety of environmental and genetic factors. In this respect, de novo heterozygous HECW2 variants were associated recently with neurodevelopmental disorders associated to hypotonia, seizures, and absent language. HECW2 encodes an E3 ubiquitin-protein ligase that stabilizes and enhances transcriptional activity of p73, a key factor regulating proliferation, apoptosis, and neuronal differentiation, which are together essential for proper brain development. Here, using whole exome sequencing, we identified a homozygous nonsense HECW2 variant: c.736C > T; p.Arg246* in a proband from a Moroccan consanguineous family, with developmental delay, intellectual disability, hypotonia, generalized tonico-clonic seizures and a persistent tilted head. Thus this study describes the first homozygous HECW2 variant, inherited as an autosomal recessive pattern, contrasting with former reported de novo variants found in HECW2 patients.
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Discapacidad Intelectual , Malformaciones del Sistema Nervioso , Trastornos del Neurodesarrollo , Homocigoto , Humanos , Discapacidad Intelectual/genética , Hipotonía Muscular/genética , Trastornos del Neurodesarrollo/genética , Convulsiones/genética , Ubiquitina-Proteína Ligasas/genéticaRESUMEN
Deafness is one of the most common genetic diseases in humans and is subject to important genetic heterogeneity. The most common cause of non syndromic hearing loss (NSHL) is mutations in the GJB2 gene. This study aims to update and evaluate the spectrum of GJB2 allele variants in 152 Moroccan multiplex families with non syndromic hearing loss. Seven different mutations were detected: c.35delG, p.V37I, p.E47X, p.G200R, p.Del120E, p.R75Q, the last three mutations were described for the first time in Moroccan deaf patients, in addition to a novel nonsense mutation, the c.385G>T which is not referenced in any database. Sixty six families (43.42%) have mutations in the coding region of GJB2, while the homozygous c.35delG mutation still to date the most represented 51/152 (33.55%). The analysis of the geographical distribution of mutations located in GJB2 gene showed more allelic heterogeneity in the north and center compared to the south of Morocco. Our results showed that the GJB2 gene is a major contributor to non syndromic hearing loss in Morocco. Thus, this report of the GJB2 mutations spectrum all over Morocco has an important implication for establishing a suitable molecular diagnosis.
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Conexinas/genética , Sordera/genética , Heterogeneidad Genética , Alelos , Conexina 26 , Sordera/epidemiología , Sordera/fisiopatología , Femenino , Genes Recesivos , Humanos , Masculino , Marruecos , Mutación/genéticaRESUMEN
Mutations in the TBC1D24 gene are responsible for four neurological presentations: infantile epileptic encephalopathy, infantile myoclonic epilepsy, DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures) and NSHL (non-syndromic hearing loss). For the latter, two recessive (DFNB86) and one dominant (DFNA65) mutations have so far been identified in consanguineous Pakistani and European/Chinese families, respectively. Here we report the results of a genetic study performed on a large Moroccan cohort of deaf patients that identified three families with compound heterozygote mutations in TBC1D24. Four novel mutations were identified, among which, one c.641G>A (p.Arg214His) was present in the three families, and has a frequency of 2% in control Moroccan population with normal hearing, suggesting that it acts as an hypomorphic variant leading to restricted deafness when combined with another recessive severe mutation. Altogether, our results show that mutations in TBC1D24 gene are a frequent cause (>2%) of NSHL in Morocco, and that due to its possible compound heterozygote recessive transmission, this gene should be further considered and screened in other deaf cohorts.
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Proteínas Portadoras/genética , Tasa de Mutación , Linaje , Secuencia de Aminoácidos , Animales , Secuencia de Bases , Proteínas Portadoras/química , Sordera/genética , Exones/genética , Femenino , Proteínas Activadoras de GTPasa , Heterocigoto , Humanos , Masculino , Proteínas de la Membrana , Datos de Secuencia Molecular , Marruecos , Proteínas del Tejido NerviosoRESUMEN
Autosomal recessive non-syndromic hearing loss (ARNSHL) is one of the most common genetic diseases in human and is subject to important genetic heterogeneity, rendering molecular diagnosis difficult. Whole-exome sequencing is thus a powerful strategy for this purpose. After excluding GJB2 mutation and other common mutations associated with hearing loss in Morocco, whole-exome sequencing was performed to study the genetic causes of one sibling with ARSHNL in a consanguineous Moroccan family. After filtering data and Sanger sequencing validation, one novel pathogenic homozygous mutation c.1810C>G (p.Arg604Gly) was identified in TMC1, a gene reported to cause deafness in various populations. Thus, we identified here the first mutation in the TMC1 gene in the Moroccan population causing non-syndromic hearing loss.
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Pérdida Auditiva/genética , Proteínas de la Membrana/genética , Mutación/genética , Conexina 26 , Conexinas , Sordera/genética , Exoma/genética , Femenino , Genes Recesivos/genética , Homocigoto , Humanos , Masculino , Marruecos , LinajeRESUMEN
Mutations in the CLDN14 gene, encoding the tight junction claudin 14 protein has been reported to date in an autosomal recessive form of isolated hearing loss DFNB29. In order to identify the contribution of CLDN14 to inherited deafness in Moroccan population, we performed a genetic analysis of this gene in 80 Moroccan familial cases. Our results show the presence of 7 mutations: 6 being conservative and one leading to a missense mutation (C11T) which was found at heterozygous and homozygous states, with a general frequency of 6.87%. The pathogenicity of the resulting T4M substitution is under discussion. Finally, our study suggests that CLDN14 gene can be implicated in the development of hearing loss in the Moroccan population.
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Claudinas/genética , Pérdida Auditiva Sensorineural/genética , Sustitución de Aminoácidos , Secuencia de Bases , Estudios de Casos y Controles , Análisis Mutacional de ADN , Frecuencia de los Genes , Pérdida Auditiva Sensorineural/patología , Heterocigoto , Homocigoto , Humanos , Marruecos , Mutación Missense , LinajeRESUMEN
UNLABELLED: Islamic Ramadan is a 29-30 day fast in which food, fluids, medications, drugs and smoking are prohibited during the daylight hours which can be extended between 13 and 18 h · day(-1) depending on the geographical location and season. The majority of health-specific findings related to Ramadan fasting are mixed. The likely causes for these heterogeneous findings lie in the amount of daily time of fasting, number of subjects who smoke, take oral medications, and/or receive intravenous fluids, in the type of food and eating habits and in changes in lifestyle. During Ramadan fasting, glucose homeostasis is maintained by meals taken during night time before dawn and by liver glycogen stores. Changes in serum lipids are variable and depend on the quality and quantity of food intake, physical activity and exercise, and changes in body weight. Compliant, well-controlled type II diabetics may observe Ramadan fasting, but fasting is not recommended for type I, noncompliant, poorly controlled and pregnant diabetics. There are no adverse effects of Ramadan fasting on respiratory and cardiovascular systems, haematologic profile, endocrine, and neuropsychiatric functions. CONCLUSIONS: Although Ramadan fasting is safe for all healthy individuals, those with various diseases should consult their physicians and follow medical and scientific recommendations.
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Diabetes Mellitus , Metabolismo Energético , Ayuno , Salud , Islamismo , Complicaciones del Embarazo , Estrés Fisiológico , Glucemia/metabolismo , Complicaciones de la Diabetes , Ingestión de Líquidos , Ingestión de Energía , Ejercicio Físico , Femenino , Humanos , Lípidos/sangre , Masculino , Actividad Motora , EmbarazoRESUMEN
Sleep is now considered as a new frontier in performance enhancement. This article presents background content on sleep function, sleep needs and methods of sleep investigation along with data on the potential effects of Ramadan fasting on sleep in normal individuals and athletes. Accumulated sleep loss has negative impacts on cognitive function, mood, daytime sleepiness and performance. Sleep studies in athletes fasting during Ramadan are very rare. Most of them have demonstrated that during this month, sleep duration decreased and sleep timing shifted. But the direct relation between sleep changes and performance during Ramadan is not yet elucidated. Objective sleep patterns can be investigated using polysomnography, actigraphy, and standardised questionnaires and recorded in daily journals or sleep logs. The available data on sleep indicate that team doctors and coaches should consider planning sleep schedule and napping; implementing educational programmes focusing on the need for healthy sleep; and consider routine screening for sleep loss in athletes of all age groups and genders.
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Rendimiento Atlético , Ayuno , Islamismo , Privación de Sueño/complicaciones , Sueño , Deportes , Estrés Fisiológico , Ingestión de Energía/fisiología , Femenino , Humanos , Masculino , Proyectos de InvestigaciónRESUMEN
During Ramadan, Muslims abstain from food and fluid intake from dawn to sunset for 1 month. These behavioural changes that accompany Ramadan may impact upon Muslim athletes who continue to train intensely. The aim of the present study was to evaluate the effect of Ramadan intermittent fasting (RIF) on the haematological, inflammatory, and immunological measures in elite judo athletes maintaining their usual high training loads. Haematological markers of inflammation, hormones, and immune status were studied in 15 elite male judo athletes before, during, and after Ramadan. The RIF produced small but significant changes in inflammatory, hormonal, and immunological profiles in judo athletes. Serum C-reactive protein increased from 2.93 +/- 0.26 mg.L-1 pre-Ramadan to 4.60 +/- 0.51 mg.L-1 at the end of Ramadan. Haptoglobin and antitrypsin also significantly increased at different phases during Ramadan, whereas homocysteine and prealbumin remained relatively unchanged. Albumin decreased slightly by mid-Ramadan, then recovered. Immunoglobulin Aincreased from 1.87 +/- 0.56 g.L-1 before Ramadan to 2.49 +/- 0.75 g.L-1 at the end, and remained high 3 weeks after. There were no changes in the leucocyte cell counts throughout the study. The mean blood level of thyroid-stimulating hormone and free thyroxine increased significantly during RIF. Most of these changes were within the normal ranges. These results suggest that athletes who continue to train intensely during Ramadan are liable to experience a myriad of small fluctuations in hormones, immunoglobulins, antioxidants, and inflammatory responses.
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Atletas , Ayuno , Artes Marciales/fisiología , Esfuerzo Físico/fisiología , Adolescente , Fatiga , Humanos , Islamismo , Masculino , Túnez , Adulto JovenRESUMEN
The aim of the present study was to evaluate the influence of the Ramadan intermittent fast (RIF) on aerobic and anaerobic exercise performance in elite judo athletes (Judokas) maintaining their usual training loads. Physical performance tests (squat jump [SJ]), countermovement jump [CMJ], 30-second repeated jump, 30-m sprint, and the multistage fitness test) and fatigue scores were measured in 15 elite Judokas on 4 occasions: before Ramadan (T1), at the beginning of Ramadan (T2), at the end of Ramadan (T3) and 3 weeks after Ramadan. Results showed that 30-m sprint performance, multistage shuttle run test, SJ, and CMJ did not change during Ramadan. However, average power during the 30-second repeated jump test was slightly lower at the end of Ramadan (22.4 +/- 2.3 W/kg; P < 0.05) than before Ramadan (23.4 +/- 2.3 W/kg). There was a minor reduction of 1.3 kg in body mass and an increase in total fatigue scores (T2, 19 +/- 5; T3, 16 +/- 4; both P < 0.05) during Ramadan in comparison with the control period (T1, 12 +/- 3). These results show that the RIF has little effect on aerobic performance and on very short duration sprinting and jumping test performance in elite Judokas. Additionally, experienced athletes can maintain both sufficient energy intake and normal training loads during the RIF. The slight reduction in the 30-second jump test may be associated with reduced central drive and body mass. Collectively, these results suggest that the RIF has little effect on the performance of experienced Judokas, but Muslim athletes who train during the RIF should carefully periodize their training load and monitor their food intake and fatigue levels to avoid performance decrements.
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Atletas/psicología , Rendimiento Atlético , Ayuno , Fatiga/etiología , Islamismo/psicología , Artes Marciales , Adolescente , Umbral Anaerobio/fisiología , Rendimiento Atlético/fisiología , Rendimiento Atlético/psicología , Biomarcadores/sangre , Composición Corporal/fisiología , Índice de Masa Corporal , Prueba de Esfuerzo , Tolerancia al Ejercicio/fisiología , Ayuno/efectos adversos , Ayuno/fisiología , Ayuno/psicología , Fatiga/etnología , Fatiga/metabolismo , Conducta Alimentaria/etnología , Humanos , Ácido Láctico/sangre , Lípidos/sangre , Estudios Longitudinales , Masculino , Artes Marciales/fisiología , Artes Marciales/psicología , Resistencia Física/fisiología , Esfuerzo Físico/fisiología , Estadísticas no Paramétricas , Túnez , Adulto JovenRESUMEN
BACKGROUND AND AIMS: During the month of Ramadan, Moslems refrain from drinking and eating between sunrise and sunset. This review aimed to analyze the effects of Ramadan fasting on physiological and behavioral variables in healthy subjects. METHODS: Articles included in this paper were taken from Medline, three international congresses on health and Ramadan, and in several cases from local journals. RESULTS: Ramadan fasting did not dramatically affect the metabolism of lipids, carbohydrates and proteins, or the daily mean of hormonal serum levels. An increase in serum urea and uric acid was frequently reported and this could be attributed to dehydration during this month. Some changes, such as the increase of HDL and apoprotein A1, and the decrease in LDL, could be beneficial for the cardiovascular system. However, the chronobiological studies have shown that Ramadan fasting affects the circadian distribution of body temperature, cortisol, melatonin and glycemia. The amplitude of most of these rhythms decreased and the acrophase shifted. Nocturnal sleep, daytime alertness and psychomotor performance were decreased. CONCLUSION: The major changes during Ramadan fasting are chronobiological and behavioral. They could be responsible for the high incidence of road traffic accidents and the reduction of working hours during the month of Ramadan.
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Ayuno/fisiología , Islamismo , Accidentes de Tránsito , Afecto , Nivel de Alerta/fisiología , Conducta/fisiología , Ritmo Circadiano , Ayuno/sangre , Hormonas/sangre , Humanos , Lípidos/sangre , Desempeño Psicomotor , Factores de TiempoRESUMEN
During the lunar month of Ramadan, Muslims abstain from eating, drinking and smoking from sunrise to sunset. We reported previously that Ramadan provokes a shortening in nocturnal total sleep time by 40 min, an increase in sleep latency, and a decrease in slow-wave sleep (SWS) and rapid eye movement (REM) sleep duration during Ramadan. During the same study, the effects of Ramadan intermittent fasting on daytime sleepiness were also investigated in eight healthy young male subjects using a quantitative waking electroencephalograph (EEG) analysis following the multiple sleep latency test (MSLT) procedure. This procedure was combined with subjective alertness and mood ratings and was conducted during four successive experimental sessions: (1) baseline (BL) 15 days before Ramadan, (2) beginning of Ramadan (R11) on the 11th day of Ramadan, (3) end of Ramadan (R25) on the 25th day of Ramadan, (4) recovery 2 weeks after Ramadan (AR). During each session, four 20-min nap opportunities (MSLTs) were given at 10:00, 12:00, 14:00 and 16:00 h and were preceded by rectal temperature readings. Nocturnal sleep was recorded before each daytime session. Subjective daytime alertness did not change in R25 but decreased in R11 at 12:00 h, and subjective mood decreased at 16:00 h, both in R11 and R25. During the MSLT, mean sleep latency decreased by an average of 2 min in R11 (especially at 10:00 and 16:00 h) and 6 min in R25 (especially at 10:00 and 12:00 h) compared with BL. There was an increase in the daily mean of waking EEG absolute power in the theta (5.5-8.5 Hz) frequency band. Significant correlations were found between sleep latency during the MSLT and the waking EEG absolute power of the fast alpha (10.5-12.5 Hz), sigma (11.5-15.5 Hz) and beta (12.5-30 Hz) frequency bands. Sleep latency was also related to rectal temperature. In conclusion, Ramadan diurnal fasting induced an increase in subjective and objective daytime sleepiness associated with changes in diurnal rectal temperature.