Phytochemical composition of cedar tar of the atlas and it's in vitro antifungal activity against Trichophyton rubrum, Trichophyton mentagrophytes and Microsporum canis.

The objective of this study was to identify the major compounds present in Cedar tar obtained by distillation of Cedrus atlantica wood from the Taza forest (Morocco) and to evaluate its antidermatophytic activity in vitro against the three strains of dermatophytes most widespread in Morocco, considered the main prevailing causes of fungal infections of the skin, hair and nails. GC/MS analysis revealed that cedar tar is composed mainly of hydrocarbon sesquiterpenes and oxygenated sesquiterpenes, with nine major compounds identified, including α-Cedrene, ß-Cadinene, γ-Cadinene, ß-Himachelene, α-Turmerone, ß-Turmerone, Ar-tumerone, α-Atlantone and Himachalol. The evaluation of antifungal activity was carried out by the micro dilution technique. The MIC values found were 100µg/mL, 2µg/mL and 0.1µg/mL on Trichophyton rubrum, Trichophyton mentagrophytes and Microsporum canis strains respectively. The observed strong antifungal activity of cedar tar is attributed to the prevalence of oxygenated and hydrocarbon sesquiterpenes, known for their established antidermatophytic properties. This study highlights the potential of the Atlas Cedar tar as an effective antifungal agent for the treatment of superficial mycoses, particularly dermatophytoses.

Melatonin modulates copper-induced anxiety-like, depression-like and memory impairments by acting on hippocampal oxidative stress in rat.

Copper (Cu) is a heavy metal with the ability to induce, at high levels, neurobehavioral alterations, and oxidative stress (OS). On the other hand, melatonin (Mel) is a neurohormone that protects neurons from OS and has a modulatory effect on several behavioral processes. The present experiment was aimed to examine the effect of Mel treatment on Cu-induced anxiety-like, depression-like behaviors, memory impairment, and OS in hippocampus. Herein, adult Wistar rats of both genders received daily Mel (4 mg/kg) thirty minutes before CuCl2 (1 mg/kg), by intraperitoneal injections for 8 weeks. After the administration period, all rats were submitted to the behavioral tests. Thereafter, OS parameters and histology of the hippocampus were evaluated. The results demonstrate that Mel treatment attenuated Cu-induced anxiety-like and depression-like behaviors, and it improved memory deficits Cu-treated rats. Furthermore, Mel attenuated Cu-provoked OS by reducing lipid peroxidation (LPO) and nitric oxide (NO) levels and enhancing superoxide dismutase (SOD) and catalase (CAT) activities in the hippocampus. The histopathological analysis also supported these results. In conclusion, these findings show that Mel treatment exerted neuroprotective effects against Cu-induced neurobehavioral changes which may be related to reduction of hippocampal OS. Besides, the effects of Cu and Mel were gender dependent, being more marked in females compared to male rats.

Melatonin is a Neuroprotective and Antioxidant Agent against Neurotoxicity Induced by an Intrahippocampal Injection of Nickel in Rats.

The investigation into the hippocampal function and its response to heavy metal exposure is crucial for understanding the mechanisms underlying neurotoxicity, this can potentially inform strategies for mitigating the adverse effects associated with heavy metal exposure. Melatonin is an essential neuromodulator known for its efficacy as an antioxidant. In this study, we aimed to determine whether melatonin could protect against Nickel (Ni) neurotoxicity. To achieve this, we performed an intracerebral injection of Ni (300 µM NiCl2) into the right hippocampus of male Wistar rats, followed by melatonin treatment. Based on neurobehavioral and neurobiochemical assessments, our results demonstrate that melatonin efficiently enhances Ni-induced behavioral dysfunction and cognitive impairment. Specifically, melatonin treatment positively influences anxious behavior, significantly reduces immobility time in the forced swim test (FST), and improves learning and spatial memory abilities. Moreover, neurobiochemical assays revealed that melatonin treatment modulates the Ni-induced alterations in oxidative stress balance by increasing antioxidant enzyme activities, such as superoxide dismutase (SOD) and catalase (CAT). Additionally, we observed that melatonin significantly attenuated the increased levels of lipid peroxidation (LPO) and nitric oxide (NO). In conclusion, the data from this study suggests that melatonin attenuates oxidative stress, which is the primary mechanism responsible for Ni-induced neurotoxicity. Considering that the hippocampus is the main structure involved in the pathology associated with heavy metal intoxication, such as Ni, these findings underscore the potential therapeutic efficacy of melatonin in mitigating heavy metal-induced brain damage.

Subchronic Exposure to Mixture of Cadmium, Copper, and Nickel Induces Neurobehavioral Deficits and Hippocampal Oxidative Stress of Wistar Rats.

The present study was aimed at evaluating the influence of the subchronic exposure of cadmium (Cd), copper (Cu), and nickel (Ni) mixtures on affective behaviors, memory impairment, and oxidative stress (OS) in the hippocampus. Thirty male Wistar rats were divided into 5 equal groups. Group 1 (control) received a saline solution (NaCl 0.9%). Groups 2, 3, and 4 received Cd (0.25 mg/kg), Cu (0.5 mg/kg), and Ni (0.25 mg/kg), respectively, while group 5 received a Cd, Cu, and Ni mixture through intraperitoneal injections for 2 months. After the exposure period, all rats were submitted to behavioral tests. Subsequently, OS markers and histological changes in the rats' hippocampi were assessed. Results showed that a 2-month exposure to the mixtures of metals (MM) has led to higher anxiety-like and depression-like behaviors and cognitive deficits in rats when compared to the control group and the individual metals. Furthermore, the MM induced heightened OS, evidenced by the rise in lipid peroxidation and nitric oxide levels. These effects were accompanied by a decrease in superoxide dismutase and catalase activities in the hippocampus. The histopathological analysis also supported that MM caused a neuronal loss in the CA3 sub-region. Overall, this study underscores that subchronic exposure to the Cd, Cu, and Ni mixture induces an OS status and histological changes in the hippocampus, with important affective and cognitive behavior variations in rats.

Place of extracorporeal shockwave lithotripsy in the treatment of urolithiasis in the region of Gharb Chrarda Bni Hssen (Morocco).

The extracorporeal shockwave lithotripsy (ESWL) is a minimally invasive therapeutic approach which has been widely used through the last years. The aim of this study was to evaluate the effectiveness of ESWL in the treatment of nephrolithiasis in Gharb Chrarda Bni Hssen area (North of Morocco). A retrospective study of 590 patients with urinary stone was conducted between February 2009 and January 2013 in the Centre of Lithotripsy Anoual Clinic Kenitra. The treatment consisted in one or several sessions of ESWL. Evaluation of efficiency was based on radiological examinations using abdominal echography during the consultation with the urologist after the last session. There were 306 males and 184 females aged 17-79 years. The medium size of stone was 12.3 ± 5 mm. The average number of sessions and shock waves were 4 and 2490, respectively. The shockwave session was continued until stone fragmentation was observed when 4000 shocks were given. Failure of stone fragmentation or the presence of fragments larger than 4 mm were indications of repeat ESWL sessions. 92% of patient stones were completely cleared (p < 0,05%). The majority of patients were asymptomatic. This data show that the ESWL is extremely successful in treating human kidney stone. It is the first line of choice as a treatment modality for this pathology by the population of this area.

Evaluating the Protective Effects of Melatonin Against Chronic Iron Administration in Male Wistar Rats: a Comparative Analysis of Affective, Cognitive, and Oxidative Stress with EDTA Chelator.

Iron is the dominant metal in the brain and is distributed widely. However, it can lead to various neuropathological and neurobehavioral abnormalities as well as oxidative stress. On the other hand, melatonin, a pineal hormone, is known for its neuroprotective properties, as well as its ability to act as a natural chelator against oxidative stress. It has also been used as an antidepressant and anxiolytic. The study investigated the potential of melatonin and EDTA treatment to prevent anxiety, depressive behavior, and memory impairment in male rats induced by chronic iron administration, and its connection to oxidative stress regulation in the hippocampus and prefrontal cortex. The rats were divided into six groups and intraperitoneally injected for 8 weeks with NaCl solution (control), iron sulfate (1 mg/kg), melatonin (4 mg/kg), EDTA (4 mg/kg), 1 mg/kg of iron + 4 mg/kg of melatonin, or 1 mg/kg of iron + 4 mg/kg of EDTA. In this study, we performed a neurobehavioral assessment and biochemical determinations of oxidative stress levels in the hippocampus and prefrontal cortex of each animal. The results indicate that chronic exposure to iron sulfate induced anxiety-like depressive behavior, and cognitive impairment also increased the levels of lipid peroxidation and nitric oxide, and reduced the activity of catalase in the hippocampus and prefrontal cortex in male Wistar rats, suggesting the induction of oxidative stress. In contrast, these alterations were reversed by melatonin better than EDTA. The results of this study show that melatonin protects against the neurobehavioral changes caused by iron, which may be associated with decreasing oxidative stress in the hippocampus and prefrontal cortex.

The Effects of Swallowing Disorders and Oral Malformations on Nutritional Status in Children with Cerebral Palsy.

Nutrition plays an important role both from a nutrition and a socio-psychological point of view; this part seems to be even more crucial in cerebral palsy where undernutrition is responsible for an increase in morbidity and mortality. The objective of this study was to evaluate the effects of swallowing disorders and oral malformations on the nutritional status of children with cerebral palsy. We evaluated 65 patients aged 2 to 17 years using a cross-sectional, descriptive and observational approach. All patients had a definite diagnosis of cerebral palsy. The measurement of anthropometric variables (weight, height, Body Mass Index (BMI) and circumferences) was performed according to recognized techniques and measurements. The Z-score was also calculated using the World Health Organization (WHO) references. The 5-level Gross Motor Function Classification System was used, providing a standardized classification of motor disability patterns for children with cerebral palsy. The population had a median age of 9.25 (4.50−16.00) and was about 53% female. Furthermore, 75% of the patients had a height inferior to 158 cm. The results of our study show that 42 (64.6%) had false routes, 17 (26.2%) had oral-facial malformations and 51 (78.5%) did not have lip prehensions during meals. The results also show that growth retardation is closely related to gross motor function with p = 0.01, as well as all nutritional indices (Z-score weight for age, Z-score height for age and Z-score BMI for age) are affected by swallowing disorders and oral malformations, with statistically significant values < 0.05. In conclusion, a preventive and curative management specific to this population of children with cerebral palsy must be implemented with an interdisciplinary concertation.

Saffron (Crocus sativus L.): A Source of Nutrients for Health and for the Treatment of Neuropsychiatric and Age-Related Diseases.

Saffron (Crocus sativus L.) is a medicinal plant, originally cultivated in the East and Middle East, and later in some Mediterranean countries. Saffron is obtained from the stigmas of the plant. Currently, the use of saffron is undergoing a revival. The medicinal virtues of saffron, its culinary use and its high added value have led to the clarification of its phytochemical profile and its biological and therapeutic characteristics. Saffron is rich in carotenoids and terpenes. The major products of saffron are crocins and crocetin (carotenoids) deriving from zeaxanthin, pirocrocin and safranal, which give it its taste and aroma, respectively. Saffron and its major compounds have powerful antioxidant and anti-inflammatory properties in vitro and in vivo. Anti-tumor properties have also been described. The goal of this review is to present the beneficial effects of saffron and its main constituent molecules on neuropsychiatric diseases (depression, anxiety and schizophrenia) as well as on the most frequent age-related diseases (cardiovascular, ocular and neurodegenerative diseases, as well as sarcopenia). Overall, the phytochemical profile of saffron confers many beneficial virtues on human health and, in particular, on the prevention of age-related diseases, which is a major asset reinforcing the interest for this medicinal plant.

Melatonin Ameliorates Cadmium-Induced Affective and Cognitive Impairments and Hippocampal Oxidative Stress in Rat.

The present work aims to evaluate the effect of melatonin (Mel) on affective and cognitive disorders induced by chronic exposure to Cadmium (Cd). Male and female Wistar rats received either an intraperitoneal injection of saline solution NaCl (0.9%), Mel (4 mg/kg), Cd (1 mg/kg), or Cd (1 mg/kg) + Mel (4 mg/kg) for 8 weeks. Behavioral disorders were evaluated by different tests mainly the open field and elevated plus maze tests for anxiety-like behavior, forced swimming test (FST) for depression-like behavior, and the Y-maze and Morris water maze (MWM) tests for cognitive disorders. Thereafter, oxidative stress indices and histology of the hippocampus were evaluated. The results confirm that Cd administration has anxiogenic-like effects in both anxiety tests and depressive-like effects in the FST and leads to memory and learning disabilities in the Y-maze and MWM. We also report that Mel counteracts these neurobehavioral disorders. Biochemical assays showed that rats intoxicated with Cd significantly increased levels of nitric oxide (NO) and lipid peroxidation (LPO), while the activities of catalase (CAT) and superoxide dismutase (SOD) were significantly decreased in the hippocampus. In contrast, Mel administration attenuates the Cd-induced changes. The histopathological studies in the hippocampus of rats also supported that Mel markedly reduced the Cd-induced neuronal loss in CA3 sub-region. Overall, our results suggest that Mel could be used to protect against Cd-induced neurobehavioral changes via its antioxidant properties in the hippocampus. The effects of Cd and Mel are sex-dependent, knowing that Cd is more harmful in males, while Mel is more protective in females.

Intrahippocampal Effects of Nickel Injection on the Affective and Cognitive Response in Wistar Rat: Potential Role of Oxidative Stress.

The present study focused on affective and cognitive behaviors in male Wistar rats, following direct and unique exposure to nickel chloride (NiCl2), as well as the possible involvement of oxidative stress. The rats were exposed to NiCl2 (300 µM), by intracerebral administration of 2 µL of this metal at the right hippocampus, using the stereotaxic approach. Five days after the surgery, a battery of behavioral tests was performed, including the open-field test (OFT) and elevated plus maze test (EPM) to assess the state of anxiety-like behavior and forced swimming test (FST) for depressive-like behavior. Y-maze and Morris Water Maze (MWM) were used to evaluate working memory and spatial learning. Thereafter, oxidative stress markers of the hippocampus were evaluated. The results confirm that NiCl2 exerts anxiogenic effects in both anxiety tests and depressogenic effects in the FST. In addition, MWM and Y-maze data show that NiCl2 causes memory and spatial learning disorders. The biochemical assay results showed that intrahippocampal injection of NiCl2 increased the levels of nitric oxide and lipid peroxidation (p < 0.001), while the activities of catalase and superoxide dismutase were significantly decreased in the hippocampus (p < 0.01). Overall, these results suggest that NiCl2 causes affective and cognitive disorders and oxidative stress in rats.

Effects of the Methyl Donors Supplementation on Hippocampal Oxidative Stress, Depression and Anxiety in Chronically High Fructose-treated Rats.

Evidence suggests that oxidative stress plays an important role in the development of anxiety and depression. The aim of the present study was to investigate whether methyl donors supplementation could exert beneficial effects on hippocampal oxidative stress, anxiety and depression in chronically high fructose-treated rats, a new animal model of anxiety and mood disorders. Rats were divided into two groups and treated for 10 weeks as follows: Group 1 represents the control group and Group 2 was treated with 23% fructose. After 10 weeks, the fructose-fed animals were divided into two groups and treated for 8 weeks as follows: Group 2 continued to receive fructose while Group 3 was treated with methyl donors and fructose. High fructose-fed rats showed increases in glucose, triglycerides, total cholesterol as well as in the final body weight and the adipose tissue weight. High fructose induced anxiety- and depression-like behaviors. High fructose caused an increase of the nitrite content and the Malondialdehyde (MDA) levels in the hippocampus tissue in association with an induction of damage in the dorsal hippocampus neurons. The 8-weeks dietary supplementation with methyl donors normalized the depression-like behavior, oxidative stress in the hippocampus, reversed the damage observed in the hippocampal neurons. These findings demonstrate that high fructose induced depression in association with the induction of a hippocampal oxidative stress. The anti-depressive action of methyl donors appears to be associated to their anti-oxidative properties since they normalized the nitrite content and the MDA levels at the hippocampus in the high fructose-fed female rats.

Neuroprotective effects of the Chrysophyllum perpulchrum extract against an Alzheimer-like rat model of ß amyloid1-40 intrahippocampal injection.

OBJECTIVE: Alzheimer's disease (AD) is a threatening disease for African populations in the upcoming years because of the increase in their expectancy of life. Here, we investigated whether natural products from Chrysophyllum perpulchrum as catechin and two dimeric procyanidins (catechin + hexose) could prevent progression of oxidative stress and cognitive changes using an AD-like rat model induced by Aß1-40 injection into the hippocampal CA1 subfield. METHODOLOGY: Adult male Wistar rats were either microinjected with 1% ammonia as a vehicle (10 µL) or aggregated Aß1-40 at 10 µg bilateral hippocampus. On the 14th day of post-surgery, some Aß rats were treated with melatonin (10 mg/kg i.p.) or with the Chrysophyllum perpulchrum extract (300 mg/kg p.o.), and some sham-operated rats received the extract alone. Cognitive abilities were tested with Y-maze, object recognition test and Morris Water Maze. Oxidative stress markers as well as the level of activated microglial cells were assayed in the brain. RESULTS: Aß rats exhibited significant deficits of recognition memory and spatial learning. This was associated with an increase of microglia Iba 1 immunoreactivity as well as nitric oxide (NO), malondialdehyde and superoxide dismutase levels but not to the thiol content in the hippocampus, prefrontal cortex and septum of AD-like rats. The Chrysophyllum perpulchrum extract treatment mitigated Aß-induced cognitive impairments and reversed microglia overactivation and subsequent generation of oxidative stress markers. Interestingly, the neuroprotective actions of the Chrysophyllum perpulchrum extract seem to be comparable to the control drug melatonin used albeit with some more beneficial effects. CONCLUSION: These findings are preliminary and should be strengthened by more pharmacological studies of bioactive compounds of Chrysophyllum perpulchrum before being proposed as a promising drug against AD.

Chronic copper exposure leads to hippocampus oxidative stress and impaired learning and memory in male and female rats.

Environmental and occupational exposures to copper (Cu) play a pivotal role in the etiology of some neurological diseases and reduced cognitive functions. However, the precise mechanisms of its effects on cognitive function have not been yet thoroughly established. In our study, we aimed to investigate the behavior and neurochemical alterations in hippocampus of male and female rats, chronically exposed to copper chloride (CuCl2) and the possible involvement of oxidative stress. Twenty-four rats, for each gender, were divided into control and three test groups (n = 6), and were injected intraperitoneally with saline (0.9% NaCl) or CuCl2 (0.25 mg/kg, 0.5 mg/kg and 1 mg/kg) for 8 weeks. After the treatment period, Y-maze test was used for the evaluation of spatial working memory and the Morris Water Maze (MWM) to test the spatial learning and memory. Biochemical determination of oxidative stress levels in hippocampus was performed. The main results of the present work are working memory impairment in spatial Y-maze which induced by higher Cu intake (1 mg/kg) in male and female rats. Also, In the MWM test, the spatial learning and memory were significantly impaired in rats treated with Cu at dose of 1 mg/kg. Additionally, markers of oxidative stress such as catalase, superoxide dismutase, lipid peroxidation products and nitric oxide levels were significantly altered following Cu treatments. These data propose that compromised behavior following Cu exposure is associated with increase in oxidative stress.

Animal Models of Early-Life Adversity.

From the prenatal period throughout the first years of life, the brain undergoes its most rapid development, a period during which it is highly sensitive to external experiences. The timing of brain development differs from one region to another, as it also differs between substrates, neurotransmitter systems, and central endocrine circuitries. These discontinuities are part of the "critical periods of brain development." Early-life adversity (ELA), such as exposure to infection, maternal deprivation, and substance use, disrupts the programmed brain development, yielding a myriad of deviations in brain circuitry, stress responsivity, cognitive function, and general health. This is applicable to both humans and animal models.In our laboratory, several experimental animal designs have been developed that allow investigating the long-lasting consequences of ELA on brain function, cognitive and emotional development, and the risk to develop stress-related psychopathology later in adulthood. This book chapter will provide a review of such animal models, in particular, designs related to infections (LPS-induced), the quality of mother-infant relationship (maternal deprivation and separation), and substance use (ethanol intoxication). The behavior tests, biochemical, and immunohistochemistry assays applied after ELA will be explained. The behavioral tests encompass the open-field, elevated plus maze, forced swim, sucrose preference, Y-maze, object recognition, and Morris water maze tests. These experiments allow the assessment of several outcomes of interest, pertaining to locomotor activity, anxiety-like symptoms, depressive-like symptoms, working memory, recognition memory, spatial memory, and learning performance. The biochemical assays are employed to measure the level of oxidative stress and inflammation in brain areas after application of adversity. Immunohistochemistry puts into perspective the degree of immunoreactivity in the brain subjected to adversity. The findings from our laboratory indicate that the nature and timing of exposure play a critical role in sensitivity to develop neurodevelopmental disorders.

Effects of lipopolysaccharide administration and maternal deprivation on anxiety and depressive symptoms in male and female Wistar rats: Neurobehavioral and biochemical assessments.

INTRODUCTION: Preclinical studies of early-life adversity (ELA1) have highlighted the role of postnatal stress in the emergence and persistence of anxiety and depressive disorders. In this study, we compared anxious and depressive behaviors and oxidation levels in male and female Wistar rats subjected to three ELAs (lipopolysaccharide (LPS) induced, maternal deprivation (MD), or combination of the two stressors). METHODS: Rats were split into four groups: control group which received an intraperitoneal (IP) injection of saline on postnatal day (PND) 1, LPS-treated group which received an IP injection of LPS on PND1, MD group which was exposed to a 24-hour period of isolation on PND9, and LPS-treated/MD group which received an IP injection of LPS on PND1 then was exposed to a 24-hour period of isolation on PND9. Each group consisted of 12 rats and had an equal gender distribution. At three months, rats were subjected to neurobehavioral assessments and biochemical oxidative assays. RESULTS: Compared to controls, rats in the LPS and MD groups scored significantly higher on anxiety and depression-related measures. Gender differences in response were mainly observed in the MD group. Exposure to the combination of stressors led to a characteristic decrease in anxiety and an increase in depressive measures in both genders. All groups exposed to ELA showed a statistically significant increase in their oxidative stress levels. CONCLUSION: Response to ELA is gender-dependent and modulated by the nature, type, and number of stressors. Further investigations are critical to understand the mechanisms underlying combination of stressors and gender's effect.

Effect of Chronic Administration of Nickel on Affective and Cognitive Behavior in Male and Female Rats: Possible Implication of Oxidative Stress Pathway.

Nickel (Ni) toxicity has been reported to produce biochemical and behavioral dysfunction. The present study was undertaken to examine whether Ni chronic administration can induce alterations of affective and cognitive behavior and oxidative stress in male and female rats. Twenty-four rats, for each gender, divided into control and three test groups (n = 6), were injected intraperitoneally with saline (0.9% NaCl) or NiCl2 (0.25 mg/kg, 0.5 mg/kg and 1 mg/kg) for 8 weeks. After treatment period, animals were tested in the open-field, elevated plus maze tests for anxiety-like behavior, and forced swimming test for depression-like behavior. The Morris Water Maze was used to evaluate the spatial learning and memory. The hippocampus of each animal was taken for biochemical examination. The results showed that Ni administration dose dependently increased anxiety-like behavior in both tests. A significant increase in depression-like symptoms was also exhibited by Ni treated rats. In the Morris Water Maze test, the spatial learning and memory were significantly impaired just in males treated with 1 mg/kg of Ni. With regard to biochemical analysis, activity of catalase (CAT) and superoxide dismutase (SOD) were significantly decreased, while the levels of nitric oxide (NO) and lipid peroxidation (LPO) in the hippocampus were significantly increased in the Ni-treated groups. Consequently, chronic Ni administration induced behavioral and biochemical dysfunctions.

IPS Interest in the EEG of Patients after a Single Epileptic Seizure.

Objective. This study aims to evaluate the incidence of pathological cerebral activity responses to intermittent rhythmic photic stimulation (IPS) after a single epileptic seizure. Patients and Methods. One hundred and thirty-seven EEGs were performed at the Neurophysiology Department of Mohamed V Teaching Military Hospital in Rabat. Clinical and EEG data was collected. Results. 9.5% of our patients had photoparoxysmal discharges (PPD). Incidence was higher in males than in females, but p value was not significant (p = 0.34), and it was higher in children compared to adults with significant p value (p = 0.08). The most epileptogenic frequencies were within the range 15-20 Hz. 63 patients had an EEG after 72 hours; among them 11 were photosensitive (p = 0.001). The frequency of the PPR was significantly higher in patients with generalized abnormalities than in focal abnormalities (p = 0.001). EEG confirmed a genetic generalized epilepsy in 8 cases among 13 photosensitive patients. Conclusion. PPR is age related. The frequencies within the range 15-20 Hz should inevitably be included in EEG protocols. The presence of PPR after a first seizure is probably more in favor of generalized seizure rather than the other type of seizure. PPR seems independent from the delay Seizure-EEG. Our study did not show an association between sex and photosensitivity.

CYP21A2 gene mutation analysis in Moroccan patients with classic form of 21-hydroxylase deficiency: high regional prevalence of p.Q318X mutation and identification of a novel p.L353R mutation.

BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease most often due to steroid 21-hydroxylase deficiency (21OHD). The incidence of the CYP21A2 gene mutations in 21OHD has been extensively studied in recent years. The p.Q318X mutation presents an ethnic-specific distribution with a higher prevalence (40%) in Tunisia. METHODS: A total of 20 Moroccan patients were studied, using PCR amplification and sequencing, to determine the mutation spectrum and to evaluate whether the incidence of the p.Q318X mutation is similar in Morocco and in Tunisia. RESULTS: Results revealed that 15 patients were with the salt wasting (SW) form and five with the simple virilizing (SV) form of the disease. All patients were homozygous or compound heterozygous for severe mutations of the CYP21A2 gene. The IVS2-13A/C>G was the most common mutation (47% of chromosomes) and the p.I172N (11%) was associated with the SV form. The p.Q318X was the second most frequent mutation (19.4%) with a regional distribution: the mutation was especially detected (75%) in patients from the midland of Morocco (Fez). We found a novel p.L353R mutation associated with the p.V281L mutation on the same chromosome in one patient at homozygous state. CONCLUSIONS: Genotyping for the four common mutations (IVS2-13A/C>G, p.Q318X, large lesions of the CYP21A2 gene and p.I172N) should allow identifying the diseased alleles and providing genetic counseling in 94% of CAH Moroccan cases. The regional distribution of mutations should help in screening studies.