Association study of apolipoprotein E promoter polymorphism (-427 T/C) and Alzheimer's disease in a Tunisian population.

BACKGROUND: Alzheimer's disease (AD) is a progressive neurodegenerative disorder with an as yet poorly understood etiology. Both environmental and genetic factors have been implicated as predisposing factors. The apolipoprotein E (APOE) ɛ4 allele is an established genetic susceptibility factor for AD for several populations including the Tunisian population. Polymorphism rs769446 (-427 T/C) at the promoter region of the APOE gene is postulated to affect the expression of the gene through differential binding of transcription factors. AIMS: This study aims at examining the APOE promoter polymorphism rs769446 for possible association with AD in a Tunisian population. METHODS: Using a case-control study design, a sample of 85 patients and 90 controls were investigated for association with the rs769446 polymorphism. RESULTS: No evidence of association was found in this population upon comparison between patients and healthy controls or upon stratification by APOE É›4. CONCLUSIONS: Investigations of potential gene-gene and gene-environmental interactions for this polymorphism need to be further conducted.

[Predictors factors of refractory epilepsy in childhood]. / Les critères prédictifs d'une épilepsie pharmacorésistante chez l'enfant.

The aim of this study is to identify early predictors of refractory epilepsy. From 600 epileptic children followed for at least 2 years in the department of neurology of Charles Nicolle hospital of Tunis, were identified children with refractory epilepsy. Controls were children who responded well to antiepileptic drugs and who were seizure free for at least 2years. We collected anamnestic, clinical, neuropsychological and radiological data for all children. We identified 67 children with refractory epilepsy, representing 11.6% of the initial population. At diagnosis, the average age was 9.16 years. Some factors have been identified as predictors of drug resistance epilepsy: age of onset less than one year, partial and atonic seizure, combination of several types of attacks, presence of mental retardation and pyramidal syndrome, abnormal electroencephalogram especially focal abnormalities, spike, amplitude abnormalities, interhemispheric asymmetry; and resistance to first antiepileptic drug. Symptomatic epilepsy, especially if associated with radiological lesions such as hippocampal sclerosis and structural brain malformations, was highly correlated with drug resistance. Our study suggests that the initial presentation of epilepsy could predict long-term outcome to drug resistance epilepsy if a detailed analysis of anamnestic, clinical and complementary data is established.

Depression in multiple sclerosis.

INTRODUCTION: Multiple sclerosis (MS) is an inflammatory demyelinating disease of the central nervous system. Prevalence of depression in MS is significant. Existence of mood disorders alters the patients' life quality. OBJECTIVE: To determine the prevalence of depression in MS and establish the relationship between the severity of the disease, the onset of depression and their correlation with neuroimaging. METHODS: Fifty patients with MS aged 20 to 50 years followed at the Neurology Department of Charles-Nicolle Hospital from 2008 to 2012 participated in this study. The evaluation included a neuropsychological assessment, physical examination with EDSS and MRI. RESULTS: Association between MS and depression is common and known. In our study, prevalence of depression was 65%. Coexistence of other psychiatric disorders was found in around 10% of patients. Mood disorder was inaugural in some cases and delayed in others. This suggests that depression in MS may be linked to the disease or a result of a functional disability process. Occurrence of depression was not directly related to disease severity in all cases studied. CONCLUSION: Depression is a possible manifestation of MS. This mood disorder is due to the demyelinating brain damage or to a genetic susceptibility. However, a fortuitous association cannot be excluded.

[Diastematomyelia diagnosed prenatally]. / Diastématomyélie diagnostiquée en période prénatale.

We report a case of a 32-week-old foetus affected by diastematomyelia. A third trimester echography suggested a spine abnormality. Further investigations by CT-scanner and MRI were performed to precise the anomaly and to better counsel the couple on the prognosis. We performed a review of the literature about embryological hypotheses, clinical presentations, antenatal investigations and prognosis of such a rare spinal malformation.

Thrombocytopaenia in pregnancy: the importance of differential diagnosis during the COVID-19 pandemic.

Since the beginning of the COVID-19 pandemic, an optimal management of vulnerable patients, such as pregnant women, has been regarded as a challenge for healthcare professionals. Although thrombocytopaenia is considered a minor criterion for admission within an intensive care unit, a low platelet count has been observed in COVID-19 patients, including a pregnant woman, who developed severe pulmonary complications. Furthermore, thrombocytopaenia has been proposed as a potential biomarker in order to identify cases at high-risk complications. Nevertheless, thrombocytopaenia is a relatively frequent condition observed in pregnancy. In this context, a differential diagnosis is essential for the correct management of COVID-19 pregnant women.

The Sentinel Lymph Node in Breast Cancer: Problems Posed by Examination During Surgery. A Review of Current Literature and Management.

The presence of tumor cells can be identified in the lymph node when metastasis has occurred from the primary cancer site into the lymph node (1) If the sentinel lymph node ganglion is negative for the presence of tumor cells at the time of histological examination, the other lymph nodes are also negative in 99% of cases. If no tumor cells are identified in the sentinel lymph node ganglion by histological examination, the other lymph nodes are also negative for the presence of tumor cells in 99% of cases. The sentinel lymph node advantageously replaces axillary dissection as a staging method in breast cancer T1 and T2 (2). Approximately 40% of breast cancers metastasize to axillary lymph nodes and metastatic extension depends on disease stage. Sentinel lymph nodes are affected in the following stages: T1a (4.3%), T1b (19.5%), T1c (23.8%), T2 (48.9%), T3 (66.7%).

22q11 Deletion Syndrome and Urogenital Manifestations: A Clinicopathological Case Report.

BACKGROUND: Deletion in the chromosomal region 22q11 results from the abnormal development of the third and fourth pharyngeal pouches during embryonic life and presents an expansive phenotype with more than 180 clinical features described that involve every organ and system. HISTORY AND SIGNS: A 23-year-old African woman presented for the first trimester echography, which revealed an isolated anechoic structure suggesting a ureteral dilatation. The suspicion of a malposition of great arteries in the second trimester indicated an amniocentesis leading to a diagnosis of 22q11 deletion. OUTCOME: At 32 weeks, the patient was admitted for premature rupture of membranes and gave birth 2 weeks later to a male newborn who presented a respiratory distress syndrome and probably died secondary to a tracheal stenosis. Necropsy revealed typical clinical features of 22q11 deletion associated with left renal agenesis, hypospadias, and penile hypoplasia. CONCLUSION: We report a case of 22q11 deletion syndrome with typical clinical features associated with urogenital manifestations suspected at the first trimester ultrasound.

Two case reports of a malignant germ cell tumor of ovary and a granulosa cell tumor: interest of tumoral immunochemistry in the identification and management.

OBJECTIVE: In this article, we present two case reports. The first case was a malignant germ cell tumor of the right ovary in a 23-year old woman and the second case was a bilateral undifferentiated granulosa cell tumor in a 71-year old woman. The aim of these reports is to illustrate the interest of the immunohistochemical analysis to define the correct diagnosis, to better classify these ovarian tumors and improve their management. METHODS: In this study, we report two cases. The first case concerns a 23-year old woman (A) with a mixed germ cell tumor of the right ovary [dysgerminoma (75%), yolk sac tumor (20%), and a mature teratoma (5%)], and the second case concerns a 71-year old woman (B) with a bilateral non-differentiated and necrotic granulosa cell tumor of both ovaries. The staging system was used according to both the classifications: International Federation of Gynaecology and Obstetrics 1987 for ovarian cancer and TNM code 2009. RESULTS: The immunostaining establishes the malignancy and the immunochemistry contributes to confirm effectively the right diagnosis (Tables 2 and 3). CONCLUSION: An immunohistochemical analysis is mandatory for the choice of chemotherapy to obtain a better response of the disease and improve the survival prognosis. The efficiency of the chemotherapy authorizes a conservative surgery including a unilateral salpingo-oophorectomy preserving fertility (A). Concerning the non-dysgerminoma tumor (B), and after a surgical staging and debulking, chemotherapy was recommended. The type of tumor and its histological feature conditioned the choice of treatment. The benefit of the immunohistological analysis in this case allowed the right adjuvant treatment.