Response to clopidogrel and of the cytochrome CYP2C19 gene polymorphism.

INTRODUCTION: Clopidogrel (clopi) is a prodrug widely prescribed in the management of coronary artery disease and requires the intervention of hepatic cytochrome P450 2C19 (CYP2C19) for its activation. However, there is interindividual variability in response to clopi despite the use of recommended doses. Thus, the studies have highlighted the effect of the CYP2C19 gene polymorphism or Cyp2C19 gene on the response to clopi and particularly Cyp2C19 * 2 which may be associated with an increased risk of major cardiovascular events or MACE. OBJECTIVE: To evaluate the effect of Cyp2C19 * 2 polymorphism on MACE occurrence and hemorrhagic complications in patients treated with clopi. METHODS: We carried out a descriptive longitudinal study including 71 patients placed under clopi for a minimum duration of one month. Genotyping of the Cyp2C19 allele was performed by conventional polymerase chain reaction (PCR). After a follow-up period of 495 ± 183 days, we performed a statistical analysis to evaluate the association between the Cyp2C19 * 2 polymorphism and the occurrence of MACE or hemorrhagic complications. RESULTS: Among our patients, 51% had an angioplasty, 42% medical treatment and 7% a coronary artery bypass surgery. In our study population, 52% were heterozygous (HTZ), 28% homozygous (HMZ) healthy * 1 / * 1 and 20% HMZ had the loss of function allele * 2 / * 2. The allelic frequency of Cyp2C19 * 2 was 46%. Follow-up mean duration was of 495 ± 183 days. During this period, the prevalence of MACE was 11% and that of hemorrhagic complications was 13%. In our study, we did not observe a significant association between the occurrence of MACE or hemorrhagic complications with the genotype carrying the Cyp2C19 * 2 allele. CONCLUSION: Among patients treated with clopi, wearing a Cyp2C19 * 2 function loss allele didn't seem to be associated with a significantly higher risk of MACE, nor a significantly lower risk of hemorragic complications. This suggests the necessity of larger studies.

Vascular endothelial growth factor antagonist reduces the early onset and the severity of ovarian hyperstimulation syndrome.

BACKGROUND: Ovarian hyperstimulation syndrome (OHSS) is the most serious complication of controlled ovarian stimulation (COH) during assisted reproductive technology (ART) protocols. This syndrome is a result of ovarian expression of vascular endothelial growth factor (VEGF), which increases vascular permeability. OBJECTIVES: To evaluate the efficiency of prophylactic and therapeutic use of cabergoline in women with higher risk of developing OHSS. MATERIALS AND METHODS: In this prospective randomized study, 146 women undergoing in vitro fertilization (IVF) cycles with GnRH agonist protocols with a higher risk of OHSS diagnosed during the HCG day administration (more than 18 follicles observed larger than 12mm in diameter during COH and/or estradiol levels of 3000-3500pg/ml, previous episodes of OHSS). Women were randomly divided in two groups. The first group included 78 women who received 0.5mg per day of cabergoline (Dostinex®) orally for 7 days starting from hCG administration day. The second group included 68 women who received no medication treatment. Overall, in each group 25 patients have developed OHSS. This defines subgroup 1 that includes 25 cases of OHSS obtained in group 1 and subgroup 2 where 25 cases of OHSS obtained in group 2. Early OHSS was defined as being when the onset of the syndrome was initiated during the first 9 days after hCG administration and late OHSS was defined as being when the onset of the syndrome was initiated from 10 days after hCG administration. Outcome measures of this study were the incidence of moderate and severe OHSS, early or late OHSS and pregnancy rates. RESULTS: There was no evidence of a statistically significant reduction in the incidence of OHSS in cabergoline group (32.05% vs. 36.76%; P>0.05). Late OHSS was observed in 60.6% of cases in cabergoline group while 39.4% of cases in the other group (P=0.036). Early OHSS decreased significantly (P<0.05) in the cabergoline group. Severe OHSS cases were more common within subgroup 2 than subgroup 1 (32% vs. 8%, P=0.000). There was no difference in clinical pregnancy rates (PR) and miscarriages rates between the two subgroups. CONCLUSIONS: The cabergoline administration (Dostinex®) for patients with high-risk of OHSS can reduce the rate of early OHSS and its severity in GnRH agonist IVF cycles, but cannot prevent the incidence of OHSS.

Music therapy, a review of the potential therapeutic benefits for the critically ill.

Intensive care units are a stressful milieu for patients, particularly when under mechanical ventilation which they refer to as inhumane and anxiety producing. Anxiety can impose harmful effects on the course of recovery and overall well-being of the patient. Resulting adverse effects may prolong weaning and recovery time. Music listening, widely used for stress release in all areas of medicine, tends to be a reliable and efficacious treatment for those critically ill patients. It can abate the stress response, decrease anxiety during mechanical ventilation, and induce an overall relaxation response without the use of medication. This relaxation response can lower cardiac workload and oxygen consumption resulting in more effective ventilation. Music may also improve sleep quality and reduce patient's pain with a subsequent decrease in sedative exposure leading to an accelerated ventilator weaning process and a speedier recovery.

Acute Parotitis as a Complication of Noninvasive Ventilation.

Several conditions, including oropharyngeal dryness, pressure sores, ocular irritation, epistaxis, or gastric distension, have been described during noninvasive ventilation (NIV). Although this technique has been widely used in intensive care units and emergency wards, acute swelling of the parotid gland remains a scarcely reported complication. We describe herein the case of an 82-year-old man who developed unilateral parotitis during prolonged NIV for acute heart failure. Intravenous antibiotics, corticosteroids, and adjusting the mask laces' position allowed rapid resolution of clinical symptoms.

[Epidemiology of open globe injuries in the Tunisian region of Cap Bon: Retrospective study of 100 cases]. / Épidémiologie des traumatismes oculaires à globe ouvert dans la région tunisienne du Cap Bon : étude rétrospective à propos de 100 cas.

PURPOSE: The goal of our study was to assess the epidemiological characteristics of ocular injuries in the Cap Bon region. PATIENTS AND METHODS: We retrospectively reviewed the records of 100 patients, hospitalized and treated in the department of ophthalmology at the Mohamed Taher Maamouri university medical center in Nabeul, Tunisia for an open globe injury between January 2006 and November 2013. The mean duration of follow-up was 15.9 months. RESULTS: The average age of the patients was 31.9 years. Domestic accidents accounted for 30% of cases of trauma, followed by violence (29%). The trauma was sharp in most cases (54%). The injury was penetrating in most cases (65.7%). The initial visual acuity was ≤ 1/10 in 69.8% of cases. The wound was isolated to the cornea in 59.7% of cases and scleral in 25% of cases. The most common associated ocular lesions were traumatic cataract (35%), followed by hyphema (32%). An intraocular foreign body was present in 4% of cases. At the final examination, 41.8% had a final visual acuity ≤ 1/10. CONCLUSION: Open globe injuries represent a real public health problem given their psychological and functional repercussions. The best treatment is preventative, involving better awareness in the family, school and work environment.

[Characteristics of ocular involvement in Behçet disease in Tunisia: Monocentric study and review of literature]. / Caractéristiques de la maladie de Behçet avec atteinte oculaire en Tunisie: étude monocentrique et revue de la littérature.

BACKGROUND: Behçet's disease is a multisystemic inflammatory disease characterized by recurrent oral and genital ulcers, skin lesions and uveitis. The diagnosis of Behçet's disease is based on clinical criteria. The etiology of the disease is unknown but the wide variations of ethnic prevalence and of the prevalence in the same ethnic group in different geographic areas indicate environmental triggering of a genetically determined disorder. PATIENTS AND METHODS: A retrospective analysis of the medical charts of 150 Behçet's disease patients seen in our internal medicine department between 1995 and 2010 was undertaken. Patients with confirmed ocular involvement were analyzed and compared with those without ocular involvement. RESULTS: Among the 150 medical charts studied, 85 patients were included in the study. Thirty-three patients (38.5%) had ocular involvement. Mean age at ocular BD diagnosis onset were 35.3. Male to female ratio was 5.6. Ocular involvement was bilateral in 26 patients (78.8%). Uveitis was the most common ocular lesion (n=31 patients, 93.9%). Panuveitis was the most common anatomical location (n=21, 63.6%). The comparison of patients treated for BD with or without ocular involvement showed a statistically significant association between ocular and neurological manifestations (p=0.03). All patients with ocular involvement were treated with corticosteroids. Immunosuppressive (IS) treatments were used in 28 patients (84.8%). Cyclophosphamide was the most used as first-line treatment (71.4%). Cyclophosphamide relayed by azathioprine was the most adopted protocol (28.5%). In case of resistance or relapse and depending on the other manifestations of the BD, the IS used in first intention was replaced by another one. Seven of the 33 patients had received treatment with infliximab (IFX) after failure of other therapeutic lines. CONCLUSION: Ocular prognosis in the BD can be improved by early treatment and regular monitoring. It is important to adjust the therapeutic protocol to the anatomic form, to the severity of uveitis and to the extra-ocular manifestations associated.

Posttraumatic epilepsy in Tunisia.

The medicolegal problems associated with posttraumatic epilepsy are frequently related to the assessment of the cause of traumatic brain injury and to the complexity of forensic examination. We carried out a study of 28 patients with posttraumatic epilepsy seen at the Neurological Department of Charles Nicolle Hospital in Tunis, Tunisia. We obtained a detailed history and performed neurological evaluation, EEG monitoring, and neuropsychological evaluation. For the forensic examination, we specified the date of stabilization and the damages to be compensated according to the different Tunisian forensic assessment scales. Traumatic brain injury was caused mainly by road traffic accidents. In 15 patients, posttraumatic epilepsy was controlled by treatment after 5 years. Eighteen patients, victims of road traffic accidents, requested legal compensation. The date of stabilization was determined in 21 patients. Permanent partial disability was associated with severe trauma, young age, and uncontrolled seizures.

A novel exon 3 mutation in a Tunisian patient with Lafora's disease.

We report a Tunisian patient born from consanguineous marriage affected with progressive myoclonus epilepsy and cognitive decline, consistent with the diagnosis of Lafora disease. Genetic analysis showed a novel c.659 T>A mutation on exon 3 of the EPM2A gene, converting a leucine to a glutamine residue at amino acid position 220 (p.Leu220Gln), in the dual-specificity phosphatase domain.

Back pain caused by a pseudo-tumorous vertebral collapse: atypical presentation of primary vertebral hydatidosis.

Hydatidosis, also known as echinococcosis, is a rare but serious parasitic disease in endemic areas. Primary spinal location is extremely rare. This case report describes a rare instance of hydatid cyst that caused severe and progressive low-back pain and neurologic dysfunction. Spine MRI showed a unique vertebral collapse of Th12 body with multicystic lesions filling the spinal canal. In addition, hydatidosis serodiagnostic test was positive at 1/725. Treatment depended on the actual surgical removal of the cysts. Surgery consisted in excision and extirpation of the cysts, associated with decompressive laminectomy. The diagnosis was confirmed on the basis of histological results. No coincidental hydatid visceral involvement was found. Antihelminthic drugs (Albendazole) were promptly given before surgery for a long period. The outcome was satisfactorily marked by total regression of the motor deficit and sphincter disorders.

Brucellar spondylodiscitis affecting non-contiguous spine levels.

Brucellosis is a zoonosis that affects several organs. The spine is the most common site of musculoskeletal involvement. However, multiple-level spinal involvement is rare in brucella spondylodiscitis. The authors report a case of a 56-year-old male shepherd who had developed a spondylodiscitis affecting simultaneously the cervical, thoracic and lumbar regions. The diagnosis was established by using MRI after the brucella-agglutination test was found to be positive. A high degree of suspicion in the diagnosis of brucellar spondylodiscitis is essential to reduce the delay for the treatment. Thus, it should be essentially included in the differential diagnosis of longstanding cervical, thoracic or back pain, particularly in regions where brucellosis is endemic. Screening serological tests for brucella should be used more widely in cases with low index of suspicion, especially in endemic areas.

[Cavernous hemangioma in the orbital apex revealed by optic neuropathy]. / Hémangiome caverneux de l'apex orbitaire révélé par une neuropathie optique.

Cavernous hemangioma is the most common primary vascular neoplasm. It typically occurs in middle-aged women, causing a progressive painless proptosis as the principal symptom. It exceptionally compresses the optic nerve. We report the case of a cavernous hemangioma revealed by optic neuropathy in a 33-year-old female.

[Sexually transmitted diseases and sexual contamination with human immunodeficiency virus in the French Forces in 2006]. / Infections sexuellement transmissibles et contaminations sexuelles par le virus de l'immunodéficience humaine dans les armées françaises en 2006.

BACKGROUND: Servicemen constitute a group at risk for exposure to sexually transmitted diseases (STD) and for this reason specific surveillance of STD and human immunodeficiency virus (HIV) seroconversion has been conducted in the French Armed Forces since 1996. METHODS: All cases of STD and HIV seroconversion occurring in military personnel and corresponding to the notification criteria are reported by a military doctor, wherever the diagnosis is made. Incidence rates are calculated based on numbers of military personnel provided by the Ministry of Defence Social Observatory. RESULTS: In 2006, 67 cases of STD and 10 of HIV seroconversion due to sexual contamination were reported in the French Forces. The incidence of STD and HIV seroconversion was respectively 19.2 and 2.8 cases per 100,000. Gonorrhoea was the principal notified STD, with half of the cases of HIV seroconversion involving acute HIV infection. 59.7% of STD and 70.0% of HIV seroconversion were contracted in metropolitan France. DISCUSSION: STD and HIV seroconversion remain a subject of concern for the French Medical Forces despite low rates of incidence.

[Association of Parry-Romberg syndrome and paroxymal kinesigenic dyskinesia]. / Association syndrome de Parry-Romberg et dyskinésie paroxystique kinésigénique.

INTRODUCTION: Parry-Romberg syndrome is a rare entity of unknown etiology, characterized by hemifacial or hemibody atrophy affecting subcutaneous tissues. Its main clinical manifestations are neurological, ocular and dermatological. Paroxysmal kinesigenic dyskinesia (PKD) is characterized by brief episodes of choreic/dystonic movements triggered by sudden movements and improved by antiepileptic drugs particularly carbamazepine. It can be sporadic or familial with an autosomal dominant inheritance. Little is known about the pathophysiology of PKD, although a channelopathy is thought likely. The association of these two diseases is rare. CASE REPORT: Over three years, a 42-year-old patient progressively developed left hemiatrophy. Since age 14, he presented paroxysmal dystonic disorders of the limbs triggered by sudden movements and controlled by carbamazepine. The diagnosis of PKD associated with Parry-Romberg syndrome was established. Investigations revealed immunologic and diffuse electrophysiological abnormalities (EEG and EMG). CONCLUSION: PKD associated with Parry-Romberg syndrome is very rare but does not appear to be fortuitous. It suggests a common mechanism via an underlying channelopathy or dysimmune disorder.

[Corneal abscess presumed to be of bacterial origin]. / Les abcès cornéens présumés d'origine bactérienne.

AIM: To assess clinical, microbiological and therapeutical characteristics of patients presenting with a clinically diagnosed corneal abscess at the Nabeul Hospital Department of Ophthalmology (Tunisia). METHODS: A retrospective study of patients presenting corneal abscess was conducted over 6 years. The clinical aspects, the microbial isolation, the treatment, and the outcome were analyzed. RESULTS: sixty-one eyes of 61 patients were hospitalized from January 2000 to October 2006. The mean age was 59.2 years old. The mean delay for referral was 8.7 days. Risk factors were noted in 90% of cases: corneal trauma (24.6%), ocular surgery (19.7%) and chronic keratopathy (14.7%). Bacteriological cultures of corneal smears isolated an organism in 39.9% of cases. Coagulase-negative Staphylococcus (16.3%), streptococcus (13.1%), Pseudomonas aeruginosa (8.1%) were the most frequent species. Poor visual outcome was correlated with anterior chamber inflammation and initial low visual acuity. CONCLUSION: Corneal trauma was the most common risk factor of corneal abcess. Early diagnosis and prompt treatment are important for successful management of bacterial keratitis to avoid corneal vision loss.

[Myotonia and hypothyroidism]. / Myotonie et hypothyroïdie.

INTRODUCTION: Hypothyroidism is frequently associated with different neuromuscular disorders. However myotonia is rarely a revealing feature. CLINICAL CASES: Two patients aged 28 and 31 years consulted for a progressive myotonia. Blood and thyroid analysis revealed peripheral hypothyroidism with low FT4 and high TSH levels. Outcome was favorable with thyroid hormone substitution. Myotonia regressed and thyroid hormone levels returned to normal. CONCLUSION: Myotonia may reveal hypothyroidism. The pathogenic mechanism of this myotonia is an unknown. Good outcome with thyroid hormone substitution requires a systematic thyroid hormone screening in patients presenting neuromuscular manifestations.