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In sheep, the woolly or hairy fleece type shows variation within and between breeds and populations. Recently, the woolly allele was shown to result from the insertion of an antisens retrogene into the 3'UTR of the ovine IRF2BP2 gene. The purpose of this study was to examine this InDel polymorphism within the IRF2BP2 gene using a specific PCR genotyping in 17 North African (Algeria and Tunisia) and Iranian sheep breeds showing various fleece types. The genotyping of the overall animals (n=908) showed the segregation of the two alleles insertion (I) and deletion (D), and the three genotypes (II, ID and DD) with various frequencies. Ouled Djellal, Rembi and Tâadmit known as woolly breeds had 100%, 94% and 94% of II homozygous animals, respectively. In contrast, Ifilène and Sidaou known as hairy breeds had 100% and 99% of DD homozygous animals. Other breeds showed the segregation of the I allele with a frequency from 3% to 91%. An association analysis, carried out only for the Algerian sheep breeds, revealed that this polymorphism was significantly associated with the fleece type trait (P<0.05). Thus, the current work meets previous results to further confirm the genetic effect of the insertion occurring into the 3' UTR of the IRF2BP2 gene on the fleece type trait of sheep breeds. [ABSTRACT FROM AUTHOR]

Background: Gaucher disease (GD) is a rare condition commonly associated with skeletal symptoms. At the advanced stage, it can lead to aseptic bone necrosis (AVN) and pathological fractures. The medical treatment by enzymatic replacement therapy (ERT) has considerably improved a patient's quality of life, but without being able to avoid bone-related complications. The handling of these patients in terms of orthopedic surgery is quite specific, and very few publications discussed the surgical management of this disorder in the literature. Case report: We are reporting a rare case of a 50-year-old female who presented with a pathologic fracture on a deformed femur with an Ehrlenmeyer flake aspect. She underwent surgical treatment by percutaneous nailing using an MRI-compatible Titanium implant. Conclusion: Through this paper, we are trying to briefly define GD, summarize his bone-related manifestations, and outline the appropriate measures and precautions that should be considered by orthopedic surgeons when dealing with skeletal complications of this rare disease.

La rareté actuelle des manifestations ostéoarticulaires de la syphilis tend à faire oublier et méconnaître certains aspects autrefois banals de l´affection. L´arthropathie tabétique, affection neurogène destructrice, est due à une perte de l´innervation douloureuse et proprioceptive. Elle est devenue exceptionnelle grâce au traitement précoce de la syphilis par la pénicilline. Nous rapportons le cas d´un patient de 58 ans, consultant pour une monoarthrite du genou révélant d´une arthopathie tabétique.

Focuses on a study which described the polymorphism of the caprine κ-Casein gene. Materials and methods; Results; Discussion; Conclusions.

Un patient de 45 ans a subi un traumatisme du genou droit à la suite d'un accident de la voie publique occasionnant chez lui une fracture distale supra condylienne comminutive du fémur droit et une rupture du tendon rotulien ipsilatérale. Cette association est exceptionnelle et aucun cas n'a été retrouvé dans la littérature. Un diagnostic précis clinique et radiologique suivi d'une prise en charge précoce et adaptée par une ostéosynthèse interne et une rééducation fonctionnelle précoce et adaptée ont permis d'obtenir de bons résultats à long terme.

Abstract Background Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa that appears to segregate in autosomal recessive pattern. Methods All family members underwent neurological and radiological examinations. A genome wide search was conducted in this family using the ABI PRISM linkage mapping set version 2.5 from Applied Biosystems. Six candidate genes within the region linked to the disease were screened for mutations by direct sequencing. Results Evidence of linkage was obtained on chromosome 17q24.2-25.3. Analysis of recombination events and LOD score calculation suggests linkage of the responsible gene in a genetic interval of 11 Mb located between D17S789 and D17S1806 with a maximal multipoint LOD score of 2.90. Sequencing of seven candidate genes in this locus, ATP5H, FDXR, SLC25A19, MCT8, CYGB, KCNJ16 and GRIN2C, identified three missense mutations in the FDXR gene which were also found in a homozygous state in three healthy controls, suggesting that these variants are not disease-causing mutations in the family. Conclusion A novel locus for leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa has been mapped to chromosome 17q24.2-25.3 in a consanguineous Moroccan family.

Despite the availability of an effective vaccine for several decades, the measles virus continues to spread worldwide. From 2018 to 2019, several countries experienced large measles outbreaks with genotype B3, including Tunisia. We analyzed 66 samples collected from serologically confirmed measles cases during this outbreak. Fifty-five percent were aged less than 12 months and had not received a measles vaccine. Phylogenetic analysis using the 450 nucleoprotein (N450) window revealed that all strains belonged to genotype B3, with five different variants identified. The N450 sequence of the predominant one, which circulated all through the epidemic period, was identical to the named strain MVs/Kabul.AFG/20.14/3. For better molecular discrimination, the amplification and sequencing of 1018 nucleotides in the non-coding region between the M and F genes (MF-NCRs) revealed higher variability with at least nine clusters. A phylogeographic study using Bayesian methods suggested the Governorate of Kasserine (on the borders of Algeria) as the introduction point with a TMRCA (Time to Most Recent Common Ancestor) for the 2019 sequences estimated around October 2018. These findings emphasize the crucial role of advanced molecular investigations in tracing measles transmission pathways which, together with good vaccine coverage, will help the final success of the global measles elimination program.

This research investigates citric acid (CA) synthesis using the indigenous strain Aspergillus niger ASP26, which was isolated from date by-products. The study initially involved isolating fungi capable of CA production and identifying the most potent strain based on its characteristic enzymatic activity. A. niger ASP26 was acknowledged in a previous study for its remarkable ability to produce extracellular enzymes, such as cellulase and amylase, which enable it to degrade organic materials effectively. After the identification phase, these isolates were screened for CA production using a modified Czapek-Dox medium. The research identified significant factors affecting CA production in submerged fermentation, including pH, carbon source, inoculum size, and fermentation time. Optimal conditions were determined for A. niger ASP26, resulting in a maximum CA yield of 16.89 g/L. These conditions included a 2.5% spore suspension at 2 × 10 7 spores/mL, an initial glucose concentration of 125 g/L, and incubation at 30°C for 144 h. Notably, A. niger ASP26 demonstrated the ability to produce CA under stress conditions as well. Citric acid is essential for various biological processes, such as cellular respiration, and is naturally present in citrus fruits. It also serves as a preservative and flavor enhancer in processed foods and beverages. The ability of A. niger ASP26 to produce CA from agricultural residues positions it as a viable candidate for sustainable CA production, harnessing the value from organic waste materials., Competing Interests: The authors disclose that there are no conflicts of interest., (© 2024 The Authors. Food Science & Nutrition published by Wiley Periodicals LLC.)

Background: This study aims to describe the epidemiological, clinical, and radiological features of appendicular abscesses, compare the different approaches, and assess the safety and utility of laparoscopy in its management., Methods: This descriptive retrospective study was carried out over 3 years extending from January 2017 to December 2019, reporting 150 appendicular abscesses cases. Data were collected from the register of the general surgery department B of the Rabta hospital. Cases with appendicular abscess were included. Files concerning patients with early appendicitis, non-appendicular abscesses or generalized appendicular peritonitis were excluded. Data were analysed with Statistical Package for the Social Sciences (SPSS) software. In univariate analysis, we used the chi 2 test, the Fischer test, the Student t test. The factors retained by the univariate analysis were introduced into a logistic regression model. The significance level was set to 0.05., Results: The mean age was 40.51 years. The gender ratio in patients with appendicular abscesses was M:F 1.94:1. Pain in the right iliac fossa associated with fever was the most common symptom (78% of cases). Clinical examination showed tenderness in the right iliac fossa in 38% of cases, rebound and guarding were found in 77 patients (51.3%), and a palpable mass was noted in 4 cases (4.2%). Imaging was done to confirm diagnosis; 46 patients underwent ultrasonogram and this confirmed the diagnosis in 26 patients (56%), while among the 71 patients who underwent CT abdomen confirmatory diagnosis was made in 65 patients (91.55%). An appendectomy was performed in 148 patients (98.6%) via laparoscopic approach in 94 patients, open Mac burney procedure in 32 cases (21.3%) and midline incision in 24 cases (16%). Two patients had an ileocecal resection. The appendix was most commonly located retrocecally (55.3%) in our cohort. The laparoscopic approach was performed in 94 patients (62.6%), and we had to convert in 44 patients due to dissection difficulties (46.8%). Among patients who underwent laparascopic approach 7 had developed peritonitis.. There were only 2 deaths. The mortality rate was 0,013%. The median duration of outpatient followup was 6 months (4-24 weeks) and was uneventful., Conclusion: Appendicular abscess is a disease of young adults more common in men. Location of the appendix in our case series was mostly retroceacal. Laparoscopy was associated with good outcomes; peritonitis was uncommon and mortality was rare. The laparoscopic approach is a safe surgical technique for treating appendicular abscess and it can be considered as the routine approach for this condition In developing countries with limited technical resources, laparoscopy guarantees the absence of recurrence, reduces healthcare costs and decreases the risk of treating a severe disease conservatively., (© 2021. The Author(s).)

This report is an overview of enterovirus (EV) detection in Tunisian polio-suspected paralytic cases (acute flaccid paralysis (AFP) cases), healthy contacts and patients with primary immunodeficiencies (PID) during an 11-year period. A total of 2735 clinical samples were analyzed for EV isolation and type identification, according to the recommended protocols of the World Health Organization. Three poliovirus (PV) serotypes and 28 different nonpolio enteroviruses (NPEVs) were detected. The NPEV detection rate was 4.3%, 2.8% and 12.4% in AFP cases, healthy contacts and PID patients, respectively. The predominant species was EV-B, and the circulation of viruses from species EV-A was noted since 2011. All PVs detected were of Sabin origin. The PV detection rate was higher in PID patients compared to AFP cases and contacts (6.8%, 1.5% and 1.3% respectively). PV2 was not detected since 2015. Using nucleotide sequencing of the entire VP1 region, 61 strains were characterized as Sabin-like. Among them, six strains of types 1 and 3 PV were identified as pre-vaccine-derived polioviruses (VDPVs). Five type 2 PV, four strains belonging to type 1 PV and two strains belonging to type 3 PV, were classified as iVDPVs. The data presented provide a comprehensive picture of EVs circulating in Tunisia over an 11-year period, reveal changes in their epidemiology as compared to previous studies and highlight the need to set up a warning system to avoid unnoticed PVs.

Background and Study Aims: The success of conversion total hip arthroplasty (THA) among primary THA and revision THA remains unclear. We hypothesized that most conversion THA's can be performed using primary implants and will have an uncomplicated post-operative course., Materials and Methods: Thirty-six patients (23 females, mean age 68,0y) who underwent conversion THA for failed interventions for proximal femur fractures in the period 2008-2018 were matched sequentially against patients of the same sex and age who underwent primary THA or revision THA. Data were collected on implants used, major complications, and mortality. PROMs used included the Western Ontario and McMaster Osteoarthritis Index, Harris Hip Score, Visual Analogue Scale and the EQ-5D Health Questionnaire., Results: Seventy-two percent of patients who underwent conversion THA were treated with primary implants and never suffered from a major complication. PROMs were excellent for this group of patients. The distinction primary/conversion/revision THA could not explain differences in outcomes; however, the necessity of using revision implants and the development of major complications could., Conclusions: The majority of conversion total hip arthroplasties can be considered a primary replacement. Predicting outcomes for THA should focus on patient frailty and technical difficulties dealing with infection, stability and loss of bone stock and should discard the conversion versus revision terminology.

Extra-osseous chondroma is a benign and rare tumor. It usually sits at the extremities, we report an exceptional case of a chondroma of the soft parts of the shoulder in a 28 year old woman who manifested by a painless swelling of the left shoulder. The histology confirmed the diagnosis on the excision piece. Clinical and radiological follow-up after a 24-month follow-up did not show a sign of recurrence., Competing Interests: The authors declare no competing interests.

Introduction: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) is known as a therapy of choice of advanced Parkinson's disease. The present study aimed to assess the beneficial and side effects of STN DBS in Moroccan Parkinsonian patients. Material and Methods: Thirty five patients underwent bilateral STN DBS from 2008 to 2016 in the Rabat University Hospital. Patients were assessed preoperatively and followed up for 6 to 12 months using the Unified Parkinson's Disease Rating Scale in four conditions (stimulation OFF and ON and medication OFF and ON), the levodopa-equivalent daily dose (LEDD), dyskinesia and fluctuation scores and PDQ39 scale for quality of life (QOL). Postoperative side effects were also recorded. Results: The mean age at disease onset was 42.31 ± 7.29 years [28-58] and the mean age at surgery was 54.66 ± 8.51 years [34-70]. The median disease duration was 11.95 ± 4.28 years [5-22]. Sixty-three percentage of patients were male. 11.4% of patients were tremor dominant while 45.71 showed akinetic-rigid form and 42.90 were classified as mixed phenotype. The LEDD before surgery was 1200 mg/day [800-1500]. All patients had motor fluctuations whereas non-motor fluctuations were present in 61.80% of cases. STN DBS decreased the LEDD by 51.72%, as the mean LEDD post-surgery was 450 [188-800]. The UPDRS-III was improved by 52.27%, dyskinesia score by 66.70% and motor fluctuations by 50%, whereas QOL improved by 27.12%. Post-operative side effects were hypophonia (2 cases), infection (3 cases), and pneumocephalus (2 cases). Conclusion: Our results showed that STN DBS is an effective treatment in Moroccan Parkinsonian patients leading to a major improvement of the most disabling symptoms (dyskinesia, motor fluctuation) and a better QOL.

The growing interest in substituting synthetic products coming from non-renewable sources with products from biomass has focused attention on the lignin biopolymer. Its high availability, low price and properties make the development of new and valuable uses for lignin interesting, thus improving the economic and environmental aspects of the biomass conversion. To achieve this objective, the potential use of industrial kraft and organosolv lignins as antioxidants, antimicrobials and sunscreen products has been evaluated. The results of a detailed antibacterial and antifungal study demonstrated the high potential of kraft lignins against a variety of foodborne and human pathogenic microorganisms. Moreover, both organosolv and kraft lignins presented an effective protection factor (SPF values from 10-20), demonstrating their effectiveness as natural additives for the sun lotion market. In addition, lignin samples presented high antioxidant capacity compared to butylated hydroxytoluene (BHT), one common commercial antioxidant industrially used. Therefore, the development of innovative applications of lignins as a commodity for the chemical, pharmaceutical or cosmetic industries could expand their possible uses in the market giving new added values to lignin., Competing Interests: There are no conflicts to declare., (This journal is © The Royal Society of Chemistry.)

Background: Non-motor symptoms (NMSs) are a real burden in Parkinson's disease (PD). They may appear in early pre-symptomatic stage as well as throughout the disease course. However, their relationship with the deterioration of the patient's quality of life (QoL) is still under debate. This study aimed to investigate the prevalence of NMSs and their impact on the QoL in a cohort of Moroccan patients., Methods: We carried out a cross-transactional study, where a total of 117 patients were submitted to a structured clinical interview and examination investigating motor and NMSs based on common and conventional scales. Motor symptoms were assessed by the UPDRS I-VI during ON condition. The NMSs were evaluated with common scales and their relationship with the QoL was investigated., Results: The mean patient's age was 60.77 ± 11.36 years old, and the median disease duration was 6 years [2.5-9.5]. Motor's phenotype subtypes were the mixed form in 40.2% of patients, akinetic-rigid in 20.5% and a tremor-dominant form in 39.3%. The median Hoehn and Yahr staging was 2 [1-2.5]. Regarding NMSs, the most common were urinary dysfunctions (82.6%), sleep (80.6%), and gastrointestinal (80%) disorders. Other autonomic dysfunctions were also frequent: thermoregulatory dysfunctions 58.6%, cardiovascular troubles 50.9%, and sexual dysfunctions 47.9%. Depression was present in 47.9% and fatigue symptoms in 23.1%. The median score of SCOPA-AUT was 14 [7.75-21.80]. The median PD questionnaire 39-score index (PDQ39-SI) was 23.22% and the most affected dimension was "mobility." Univariate and multivariate analyses showed that the SCOPA-AUT score impacted the QoL ( p  = 0.001), especially the gastrointestinal ( p  = 0.007), and cardiovascular ( p  = 0.049) dimensions., Conclusion: Our data show that all patients have presented at least one NMS. Autonomic and sleep disorders were the most frequent, and in contrast to other studies, digestive and cardiovascular disorders were rather the factors influencing negatively the QoL of patients. Understanding the pathophysiology of these NMSs should be placed at the forefront in order to develop new therapeutic approaches by improving the QoL of PD patients.

Background: Thymelaea hirsuta L. is a medicinal plant endemic to Tunisia, commonly used for its biological properties in traditional medicinal., Purpose: This study reports, to the best of our knowledge for the first time, the effect of regional location on the chemical composition, anti-oxidant and biological activities of organics extracts obtained from aerial parts of T. hirsuta., Methods/study Design: The aerial parts collected from different locations were prepared by sequential method with solvents of increasing polarity namely hexane, ethyl acetate, ethanol and methanol. An assessment of the anti-oxidant properties of all extracts was performed using DPPH and ABTS + assays. We also investigated the anti-cholinesterase, anti-xanthine oxidase and cytotoxic (against MCF-7 and OVCAR) activities., Results: The study of the phytochemical composition showed that the extracts are rich in phenolics (5.38-315.65 mg GAE/g dw) and tannin (0.7-73.8 mg CE/g dw). Also, the results showed that the chemical composition as well as the biological activities varies considerably between regions. The DPPH and ABTS + assays revealed that the highest important antioxidant activity was in the methanolic extract for all localities (IC50: 14.8-16.5 mg/l and 6.4-22.23 mg/l, respectively). However, the various extracts had moderate anti-cholinesterase activity (7.52-45.36%) at 50 mg/l. Regarding the xanthine oxidase inhibitory activity, ethyl acetate extract exhibited a moderate activity at a 50 mg/l. The highest cytotoxic activity against MCF-7 and OVCAR was recorded in the ethyl acetate extract of Fernana region (70.1% and 70.8% inhibition at 50 mg/l, respectively). The analysis of HPLC-UV indicates the presence of several phenolic compounds in different extracts of T. hirsuta, possibly accounting for its biological properties., Conclusion: The phenolic contents were highly correlated to anti-oxidant activity with very high correlation coefficient (R 2 ) values. The findings show that the extracts are rich in antioxidant compounds and this plant may be used as a natural source of bioactive compounds with high anti-oxidant and potential anticancer activities., (Copyright © 2018 Elsevier GmbH. All rights reserved.)

Freiberg's disease is an osteochondrosis of the metatarsal heads mainly affecting the second metatarsal head. This study was conducted over a 3 year period. It reports 6 cases of patients, whose average age was 19.8 years, who had undergone Gauthier's dorsal subtraction osteotomy with fixation using osteosutures. The outcome of this technique was satisfactory. Indeed, the majority of patients had no pain and recovered normal daily activity. This study highlights that fixation using osteosutures is a reliable and inexpensive method.

During the last two decades, 15 different genes have been reported to be responsible for the monogenic form of Parkinson's disease (PD), representing a worldwide frequency of 5-10%. Among them, 10 genes have been associated with autosomal recessive PD, with PRKN and PINK1 being the most frequent. In a cohort of 145 unrelated Moroccan PD patients enrolled since 2013, 19 patients were born from a consanguineous marriage, of which 15 were isolated cases and 4 familial. One patient was homozygous for the common LRRK2 G2019S mutation and the 18 others who did not carry this mutation were screened for exon rearrangements in the PRKN gene using Affymetrix Cytoscan HD microarray. Two patients were determined homozygous for PRKN exon-deletions, while another patient presented with compound heterozygous inheritance (3/18, 17%). Two other patients showed a region of homozygosity covering the 1p36.12 locus and were sequenced for the candidate PINK1 gene, which revealed two homozygous point mutations: the known Q456X mutation in exon 7 and a novel L539F variation in exon 8. The 13 remaining patients were subjected to next-generation sequencing (NGS) that targeted a panel of 22 PD-causing genes and overlapping phenotypes. NGS data showed that two unrelated consanguineous patients with juvenile-onset PD (12 and 13 years) carried the same homozygous stop mutation W258X in the ATP13A2 gene, possibly resulting from a founder effect; and one patient with late onset (76 years) carried a novel heterozygous frameshift mutation in SYNJ1 . Clinical analysis showed that patients with the ATP13A2 mutation developed juvenile-onset PD with a severe phenotype, whereas patients having either PRKN or PINK1 mutations displayed early-onset PD with a relatively mild phenotype. By identifying pathogenic mutations in 45% (8/18) of our consanguineous Moroccan PD series, we demonstrate that the combination of chromosomal microarray analysis and NGS is a powerful approach to pinpoint the genetic bases of autosomal recessive PD, particularly in countries with a high rate of consanguinity.

The most common cause of the monogenic form of Parkinson's disease known so far is the G2019S mutation of the leucine-rich repeat kinase 2 (LRRK2) gene. Its frequency varies greatly among ethnic groups and geographic regions ranging from less than 0.1% in Asia to 40% in North Africa. This mutation has three distinct haplotypes; haplotype 1 being the oldest and most common. Recent studies have dated haplotype 1 of the G2019S mutation to about 4000 years ago, but it remains controversial whether the mutation has a Near-Eastern or Moroccan-Berber ancestral origin. To decipher this evolutionary history, we genotyped 10 microsatellite markers spanning a region of 11.27 Mb in a total of 57 unrelated Moroccan PD patients carrying the G2019S mutation for which the Berber or Arab origin was established over 3 generations based on spoken language. We estimated the age of the most recent common ancestor for the 36 Arab-speaking and the 15 Berber-speaking G2019S carriers using the likelihood-based method with a mutation rate of 10-4. Data analysis suggests that the shortest haplotype originated in a patient of Berber ethnicity. The common founder was estimated to have lived 159 generations ago (95% CI 116-224) for Arab patients, and 200 generations ago (95% CI 123-348) for Berber patients. Then, 29 native North African males carrying the mutation were assessed for specific uniparental markers by sequencing the Y-chromosome (E-M81, E-M78, and M-267) and mitochondrial DNA (mtDNA) hypervariable regions (HV1 and HV2) to examine paternal and maternal contributions, respectively. Results showed that the autochthonous genetic component reached 76% for mtDNA (Eurasian and north African haplogroups) and 59% for the Y-chromosome (E-M81 and E-M78), suggesting that the G2019S mutation may have arisen in an autochthonous DNA pool. Therefore, we conclude that LRRK2 G2019S mutation most likely originated in a Berber founder who lived at least 5000 years ago (95% CI 3075-8700).

Bilateral cruciate ligament rupture is rare while simultaneous rupture in both anterior cruciate ligaments (ACL) is exceptional; that's why post-traumatic simultaneous bilateral cruciate ligament rupture has never been described in the literature making this case study based on patient's observation, follow-up and therapeutic discussion very interesting. The procedure was performed in two surgical steps spaced in time and results were very satisfactory for both us and patient., Competing Interests: Les auteurs ne déclarent aucun conflit d’intérêts.

Background . The LRRK2 G2019S mutation is the most common genetic determinant of Parkinson's disease (PD) identified to date. This mutation, reported in both familial and sporadic PD, occurs at elevated frequencies in Maghreb population. In the present study, we examined the prevalence of the G2019S mutation in the Moroccan population and we compared the motor and nonmotor phenotype of G2019S carriers to patients with idiopathic Parkinson's disease. Methods . 100 PD patients were assessed for motor and nonmotor symptoms, current medication, and motor complication including motor fluctuations and dyskinesia. The LRRK2 G2019S mutation was investigated by direct sequencing in patients and ethnically matched controls, all of Moroccan origin. Results. Among the 100 PD Moroccan patients, 41 (41%) were carriers of the G2019S mutation. The mutation frequency was higher among probands with autosomal dominant inheritance (76%) than among sporadic ones (28%). Interestingly, G2019S mutation was also found in 5% of control individuals. Clinically, patients carrying the G2019S mutation have more dystonia (OR = 4.6, p = 0.042) and more sleep disorders (OR = 2.4, p = 0.045) than noncarriers. Conclusions. The LRRK2 G2019S prevalence in Morocco is the highest in the world reported to date. Some clinical features in G2019S carriers such as dystonia and sleep disturbances are worth noting.

Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease. Ten of fifteen causative genes linked to familial forms of PD have been reported to cause autosomal recessive forms. Among them, mutations in the PTEN-induced kinase 1 (PINK1) gene were shown to be responsible for a phenotype characterized by early onset, good response to levodopa, and a benign course. Using chromosomal microarray analysis and Sanger sequencing, we identified a homozygous G/C substitution in a 58-year-old Moroccan man diagnosed with recessive inherited Parkinson's disease. This G-to-C transition occurred at position 1617 leading to an amino acid change L/F at position 539 located in highly conserved motif in the C terminal sequence of PINK1. Interestingly, the c.1617G>C substitution is absent in 192 ethnically matched control chromosomes. Our findings have shown that the p.L539F is a novel mutation located in the C terminal sequence of the PINK1 protein that could be pathogenic and responsible for a clinical phenotype resembling idiopathic Parkinson's disease with rapid progression and early cognitive impairment.

Background: Huntington's disease (HD) occurs worldwide with prevalence varying from 0.1 to 10/100,000 depending of the ethnic origin. Since no data is available in the Maghreb population, the aim of this study is to describe clinical and genetic characteristics of Huntington patients of Moroccan origin., Methods: Clinical and genetics data of 21 consecutive patients recruited from 2009 to 2014 from the outpatient clinic of six medical centers were analyzed. Statistical analysis was performed using descriptive statistics., Results: Twenty one patients from 17 families were diagnosed positive for the IT15 gene CAG expansion. Clinical symptoms were predominantly motor (19/21). Twelve patients had psychiatric and behavioral disorders, and 11 patients had cognitive disorders essentially of memory impairment. Analysis of genetic results showed that 5 patients had reduced penetrant (RP) alleles and 16 had fully penetrant (FP) alleles. The mean CAG repeat length in patients with RP alleles was 38.4 ± 0.54, and 45.37 ± 8.30 in FP alleles. The age of onset and the size of the CAG repeat length showed significant inverse correlation (p <0.001, r = -0.754)., Conclusion: Clinical and genetic data of Moroccan patients are similar to those of Caucasian populations previously reported in the literature.

Nitric oxide plays a major role in the regulation of cerebral blood flow and loss of its function leads to alteration of the vascular relaxation given its central role in the physiology of the vascular system. G894T eNOS polymorphism could have adverse effects on the expression and activity of endothelial nitric oxide synthase, which can result in functional impairment of the endothelium and contribute to the development of ischemic stroke in the different models of transmission. In this study, genotyping with PCR-RFLP and HRM (high resolution melting) methods were conducted on 165 ischemic stroke patients as well as 182 controls. The goal here was to compare genotyping with PCR-RLFP primer sequences of eNOS gene (size < 300 bp) to HRM. Our data suggests a statistically significant association between G894T eNOS polymorphism and ischemic stroke in recessive, dominant and additive models with P < 0.05 and odds ratio of 2.68 (1.08-6.70), 1.78 (1.16-2.73), and 1.71 (1.21-2.43) respectively. In sum, although the sample size is relatively small, it suggests that G894T eNOS polymorphism could be a potentially important genetic marker of ischemic stroke in the Moroccan population. Future studies should be conducted in this direction taking into consideration the functional activity of eNOS.

Objective: To characterize clinical aspects of Idiopathic Parkinson's disease from a movement disorders consultation in University Hospital of Rabat., Methods: Retrospective review of medical records of 117 patients with diagnosis of Idiopathic Parkinson's disease seen in our outpatient clinic from 2006 to 2011., Results: Mean age was 64 ± 10 years with predominance of men (61.5%). Mean age at disease onset was 57 ± 11 years. Early onset Parkinson's Disease was recorded in 12.8%. The median duration of disease was 5 years. Initial symptom appeared on the right side in 56.5%. Tremor presentation was the most frequent (40.2%). Symptom severity was mild to moderate in 80% of cases (UPDRS < 30). Forty four per cent of patients were receiving both Dopamine Agonists and Levodopa and in 69% of cases Levodopa was introduced within the first year following onset. The mean Levodopa Equivalent Doses (LED) was 667 ± 446 mg/day. Motor complications were found in 42% with motor fluctuations in 28.7% and 2dyskinesias in 26.7%. Non motor complications are represented mainly by autonomic disorders (44%). There were no differences in the clinical presentation related to the age at onset. Age of onset < 45 and LED > 600 mg are identified as risk factors for motor fluctuations whereas duration of Levodopa treatment is a risk factor of dyskinesias., Conclusion: Our patients are younger compared to most series with high prevalence of early onset forms. In the majority of cases, Levodopa was introduced within the first year following onset which expose patients to dyskinesias early in the course of the disease.