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Biomedical subjects

M Mokni

Publications and source records attributed to M Mokni.

At least 19 recordsLinked to original sources
PubMed2006

[Prevalence of Epstein-Barr virus in Sjögren's syndrome in Tunisia].

PURPOSE: The cause of Sjögren's syndrome is unclear. Several studies suggested the role of Epstein-Barr virus (EBV) in the pathogenesis of this syndrome, but this always remains a subject of numerous controversies. The purpose of this study was to evaluate the prevalence of EBV in Sjögren's syndrome in Tunisia. METHODS: A series of 31 paraffin-embedded biopsies of salivary glands from patients with Sjögren's syndrome were studied in comparison with 19 control glands. EBV was investigated by PCR, EBERs in situ hybridization and by immunohistochemistry for the detection of LMP1, EBNA2 and ZEBRA. RESULTS: EBV DNA was detected by PCR in 3 of 22 PCR beta-globin positive Sjögren's syndrome cases (13.6%) and in 2 of 17 PCR beta-globin positive control glands (11.7%); in situ hybridization positivity was noted in rare lymphocytes in the 3 EBV positive cases of Sjögren's syndrome, but not in control glands; immunohistochemical study was negative in all cases. CONCLUSION: EBV infection does not appear to play a significant role in the pathogenesis of Sjögren's syndrome in Tunisia.

Adult↗
PubMed2006

Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.

Tyrosinemia type II or Richner-Hanhart Syndrome (RHS) is an autosomal recessive disorder characterized by keratitis, palmoplantar keratosis, mental retardation, and elevated blood tyrosine levels. The disease is due to a deficiency of hepatic cytosolic tyrosine aminotransferase (TATc), an enzyme involved in the tyrosine catabolic pathway. Because of the high rate of consanguinity this disorder seems to be relatively common among the Arab and Mediterranean populations. RHS is characterized by inter and intrafamilial phenotypic variability. A large spectrum of mutations within TATc gene has been shown to be responsible for RHS. In the present study, we report the clinical features and the molecular investigation of RHS in three unrelated consanguineous Tunisian families including 7 patients with confirmed biochemical diagnosis of tyrosinemia type II. Mutation analyses were performed and two novel missense mutations were identified (C151Y) and (L273P) within exon 5 and exon 8, respectively. The 3D-structural characterization of these mutations provides evidence of defective folding of the mutant proteins, and likely alteration of the enzymatic activity. Phenotype variability was observed even among individuals sharing the same pathogenic mutation.

Adult↗
PubMed2006

[Extrapalpebral sebaceous carcinoma].

UNLABELLED: Extra ocular sebaceous carcinoma is a rare carcinoma of the skin known to have difficulties of diagnosis because of its polymorphism of clinical and histopathological findings. His prognosis depends of the precocity of the diagnosis. This neoplasm is aggressive in 29%, lymph node and visceral metastasis aren't rare. REPORT: A 62-year-old male had a dome-shaped and ulcerated tumor located on the left temple. The lesion appeared after eight months ago. It suspected a squamous cell carcinoma. The histologic findings revealed a sebaceous carcinoma in his mixed and moderately differentiated type. COMMENTS: Sebaceous carcinoma exhibits a variety of histologic growth patterns and diverse clinical presentations that the diagnosis is often difficult. We discuss incidence as well as clinical, histological and established the diagnosis and the prognosis of this aggressive neoplasm.

Biopsy↗
PubMed2006

[Leiomyosarcoma of the lip].

BACKGROUND: Superficial leiomyosarcomas are rare malignant tumors that may be subdivided into cutaneous and subcutaneous cases. CASE-REPORT: A 58 year-old man was seen for a lower lip tumor that appeared 3 years earlier. Histopathologic and immunohistochemical examinations showed features of cutaneous leiomyosarcoma. DISCUSSION: Cutaneous leiomyosarcoma may derive from the arrector pili, smooth muscle of sudoral glands or genital dartoic muscle. The subcutaneous form arises from smooth muscle wall of blood vessels. Superficial leiomyosarcomas occur frequently in the extensor surface of the lower extremities and involve the mucosal area in rare cases. Only five cases arising in the lips have been described. Lip cutaneous leiomyosarcoma may derive from ectopic sweat glands of the lips or from a hypodermic tumor that extends to the lip.

Humans↗
PubMed2006

[Superficial fungal infections. Epidemiologic, clinical and mycologic study over a three year period].

The object of our study is to release the epidemiological, clinical and mycological characteristics of superficial fugal infections. A retrospective study was carried out during three years (1996-1998). Direct microscopy was positive in 86% cases, the culture in 62% cases. Trichophyton rubrum accounts for 85% of the dermatophytic flora. The superficial fugal infections account for 15% of the reasons for consultation in our service. They would touch according to data's of literature 2 to 13% of the general population. Trichophyton rubrum in accordance with the various series published, is the fungi most frequently insulated with variable rates between 46 and 82% of the superficial fungal infections. Any time, Candida albicans is prevalent on the level of the hands.

Adult↗
PubMed2005

[Magnetic resonance imaging features of desmoplastic cerebral ganglioglioma of infancy: report of 1 case].

Desmoplastic infantile ganglioglioma is a rare intracranial tumor of infancy, characterized by solid and cystic component, voluminous size and supratentorial location. These tumors are diagnosed usually below the age of 2 years. We report 1 case of desmoplastic ganglioglioma in 13-year-old male. Computed tomography and magnetic resonance imaging diagnosed supratentorial mixed cystic and solid tumor, which presented as a large cystic component with intense contrast enhancement of a mural nodule. The tumor was surgically removed, and histology revealed desmoplastic ganglioglioma. The patient had a good follow up. This observation emphasizes the possibility of desmoplastic ganglioglioma in older infants. It mustn't be considered as a specific entity of very young age infant and must be recognized in older infant because it may be misdiagnosed as malignant glioma. Despite the pseudo malignant appearance, these tumors have a good prognosis after surgery and when excision is complete they don't led to recurrences.

Adolescent↗
PubMed2005

[Erysipelas after osteoarticular prosthesis].

OBJECTIVE: The occurrence of erysipelas after implantation of osteoarticular prosthesis is rarely reported in literature except when it may indicate infection of the implant. PATIENTS AND METHODS: We studied retrospectively 77 files of patients that had been hospitalized for erysipelas from January 1999 to December 2003. RESULTS: We included 3 patients (3.8%) 2 women and a man (average age: 61 years) with a history of osteoarticular prosthesis implantation on the same side as erysipelas. The period between implantation of the prosthesis and erysipelas varied from 6 months to 30 years. The 3rd patient also presented with chronic venous insufficiency and was treated for legs ulcers of venous origin. There were neither clinical nor radiological signs of prosthesis infection. The clinical schedule was typical. The initial outcome was favorable under intravenous penicillin G and local care. Antibiotic prophylaxis was recommended for all the patients, however, 2 patients relapsed.

Arthroplasty, Replacement↗
PubMed2005

[DNA content analysis in thyroid neoplasms: diagnostic and prognostic interest].

Thyroid nodules are frequent and sometimes they pose a diagnostic and prognostic problem. DNA ploidy study and cell cycle analysis could be of value in the distinction between benign tumors and malignant tumors. Formalin-fixed and paraffin-embedded tissues from 69 patients with different benign and neoplastic lesions were investigated. Nuclear DNA content in thyroid cells was measured after Feulgen staining using SAMBA 200 image analysis system. A diploid DNA stemline was revealed in 75% of histologically proven benign thyroid tumors (15/20) and aneuploidy was found in 57.2% of malignant tumors (28/49). There is a significant correlation between aneuploidy and extra-thyroid extension (p=0.007) and bilateral and/or mediastinal lymph node metastasis (p=0.02). In the majority of benign tumors (19/20), the proliferation index was lower than 3% (< or =3%) however, this index value was higher than 3% (>3%) in more than 83% of malignant tumors (41/49) (p<0.001). The S phase fraction analysis revealed that the threshold of 14% divide the near whole of benign and malignant tumors (p<0.001). Our findings show that in follicular lesions, proliferation index and S phase fraction study appears interesting and helpful in the distinction between benign and malignant tumors, and aneuploidy seems more interesting in prognosis evaluation of these tumors.

Aneuploidy↗
PubMed2005

[MRI findings in the diagnosis of pseudotumoral humeral hydatid].

Hydatidosis of bone is rare. Vertebral localizations predominate. Standard imaging may be misleading, suggestive of a malignant tumor or infection. We present the case of a patient with a humeral hydatid. This localization is very rare and presents an unusual radiographic aspect. Computed tomography produces an image suggestive of a tumor. The correct diagnosis can be established with MRI, particularly with the STIR sequence. In our patient, MRI enabled us to establish the diagnosis preoperatively and evaluate extension. MRI has been found to be highly contributive to the diagnosis of hydatidosis of bone and for assessment of intra- and peri-osseous extension.

Adult↗
PubMed2005

[Magnetic resonance imaging features of cystic meningiomas. Report of four cases].

Four cases of cystic meningioma are reported, and the imaging features and diagnostic pitfalls of cystic meningiomas are reviewed. Cystic meningiomas are infrequent tumors and remain difficult to diagnose in spite of advanced imaging techniques. Our patients were between 15 and 58 years of age, and underwent CT and MR imaging. In all the four cases, the meningiomas were supratentorial and included Nauta type I, type II and type III tumors.

Adolescent↗
PubMed2005

[Human subconjunctival dirofilariasis: two Tunisian case studies].

Two new cases of human subconjunctival dirofilariasis are reported in Tunisia. Dirofilaria immitis was identified in the first case and Dirofilaria repens in the second. Diagnosis was made by histological examination of excised nodules. We note that the patients are young (8 and 10 years, respectively) and that cases of human dirofilariasis caused by Dirofilaria immitis are present in Tunisia.

Child↗
PubMed2005

[Uterine smooth muscle tumors: retrospective epidemiological and pathological study of 2760 cases].

INTRODUCTION: Smooth muscle tumors of the uterus are frequent. Most of them are benign. Some leiomyomas may have unusual morphologic features difficult to distinguish from leiomyosarcoma. These tumors are: cellular leiomyoma, atypical leiomyoma and mitotically active leiomyoma. OBJECTIVES: The purpose of our work is to study cases of leiomyosarcomas, cellular leiomyoma, atypical leiomyoma and mitotically active leiomyoma among a large series of uterine smooth muscle tumors. MATERIALS AND METHODS: We reviewed retrospectively 2760 uterine smooth muscle tumors. The slides were reviewed and the tumors reclassified according to the criteria of the WHO 2003 classification. Chi-square test or Fisher's exact were used for statistical analyses as appropriate. RESULTS: Review of the slides demonstrated: 12 mitotically active leiomyomas, 18 cellular leiomyomas, 20 atypical leiomyomas, 16 leiomysarcomas, only one case of smooth muscle tumor of uncertain malignant potential. The 2709 remaining tumors were all common leiomyomas. So mitotically active, cellular and atypical leiomyomas were as rare as the leiomyosarcomas. The average age of patients with leiomyomas was 39 years. That of patients with leiomyosarcomas was 54 years (p=0,000002). Average size of leiomyomas was 7.4cm. That of leiomyosarcomas was 10.2cm. The average age and size of the 3 studied variants of leiomyomas were identical to those of the common leiomyomas. Leiomyomas were unique in 60.9% of cases. On the other hand 87.5% of leiomyosarcomas had unique nodules (p=0,04).

Female↗
PubMed2005

[Cord compression secondary to extramedullary hematopoiesis in a patient with beta-thalassaemia].

Extramedullary hematopoiesis (EMH) is a common manifestation in beta-thalassemia, but can also occur in several clinical hematologic disorders or neoplasms. It has been reported in almost all sites of the body. Often asymptomatic, it can be manifested by compression of the adjacent organs. Spinal cord compression as a consequence of EMH in the intraspinal epidural space is an extremely rare complication. We report a case of a 34 year old man who was hospitalised for complete paraplegia and spasticity of both lower limbs; spinal cord compression on D4-D8 by EMH was diagnosed by MRI and confirmed by histologic examination.

Adult↗
PubMed2005

[Dermatofibrosarcoma protuberans. About 18 cases].

Dermatofibrosarcoma protuberans (DFSP) is a rare mesenchyma skin tumor. It is characterized by a slow growth with a high rate of recurrence but limited potential for metastasis. We report the result of a retrospective study of 18 cases of DFSP collected over 16 years in the dermatology department of La Rabta Hospital. The mean age was 32 years with a sex ratio of 1.57. The site of predilection was the trunk (77.5%). Histological features were typical in all cases with positivity for CD34 in 14 cases. Treatment was surgical in 13 cases. DFSP is a tumor of intermediate malignancy, which can have aggressive course. This tumor is best treated with surgery in which large excision are necessary to reduce the risk of recurrence.

Adult↗
PubMed2005

[Well differentiated neuroendocrine carcinoma of the stomach: a case report].

Gastric well differentiated endocrine carcinomas were previously believed to be rare lesions, representing less than 1% of gastric neoplasms. These tumours are often associated with chronic atrophic gastritis, rarely with Zolling-Ellison syndrome. Some sporadic lesions are rarely reported. The prognosis is relatively good, but sporadic forms are more aggressive. We report a case of gastric endocrine carcinoma developed by a 52 year-old man classified as sporadic form after many investigations. Through this observation and after a review of literature, the clinicopathologic features of these tumours, their histogenesis and clinical behaviour are reviewed and discussed.

Carcinoma, Neuroendocrine↗
PubMed2004

Congenital lower lip pits: a case report.

The Van der Woude syndrome is a rare autosomal-dominant condition typically comprising cleft lip or cleft palate and distinctive pits of the lower lips. The degree to which individuals carrying the gene are affected varies widely, even within families. The variable manifestations include lip pits alone, absent teeth, and isolated cleft lip and palate of varying degrees of severity. Other associated anomalies have also been described. We report a case of Van der Woud syndrome manifesting with isolated lower lip pits in an adolescent female with similarly affected family members.

Adolescent↗