Iatrogenic colorectal Kaposi's sarcoma complicating a refractory ulcerative colitis in a human immunodeficiency negative-virus patient.

Kaposi sarcoma is an unusual tumor associated to a human herpes virus-8 infection involving the skin or internal organs. Iatrogenic Kaposi's sarcoma often occurs in patients receiving immunosuppressive therapy. So far, a few Kaposi's sarcoma cases have been reported in the literature associated with inflammatory bowel diseases. We report a 53-year-old male diagnosed with a severe refractory ulcerative colitis who was treated with corticosteroids and azathioprine. The patient underwent a colectomy after the failure of medical treatment. Histological examination of the colon showed findings suggestive of Kaposi's sarcoma. Immunohistochemistry for human herpes virus-8 was positive in the colonic lesions. Correspondence.

Leukemia in Patients with Klinefelter Syndrome: A Report of Two Cases.

Klinefelter syndrome (KS) is a chromosome abnormality characterized by a 47, XXY karyotype associated with hypogonadism and infertility. We present two cases of leukemia in patients with KS. The first patient presented with acute promyelocytic leukemia. He relapsed after the end of treatment. The second patient was diagnosed with chronic myeloid leukemia. Treatment with imatinib failed and the patient presented with myeloid blast crisis.

[Crohn's disease or intestinal tuberculosis: a diagnostic challenge]. / Tuberculose intestinale ou maladie de Crohn : un défi diagnostique.

Distinguishing intestinal tuberculosis from Crohn disease is difficult and can result in misdiagnosis, especially when active pulmonary infection is absent. A 13-year-old girl was admitted to our hospital with a 2-month history of watery diarrhea, abdominal pain, and 12-kg weight loss. Based on clinical, radiological, endoscopic, and histological findings, she was initially misdiagnosed as having Crohn disease and treated with glucocorticosteroids, with a poor response after 4 weeks. Intestinal tuberculosis was then suspected. Improvement was observed during the 1st week of antituberculous treatment. The differentiation of intestinal tuberculosis from Crohn disease may be very difficult in some patients. A positive response to antituberculous treatment associated with clinical, endoscopic, and histological features argue in favor of the diagnosis of intestinal tuberculosis.

Hyper-Raman and Raman scattering from the polar modes of PbMg1/3Nb2/3O3.

Microhyper-Raman spectroscopy of PbMg(1/3)Nb(2/3)O(3) (PMN) single crystal is performed at room temperature. The use of an optical microscope working in backscattering geometry significantly reduces the LO signal, highlighting thereby the weak contributions underneath. We clearly identify the highest frequency transverse optic mode (TO3) in addition to the previously observed soft TO-doublet at low frequency and TO2 at intermediate frequency. TO3 exhibits strong inhomogeneous broadening but perfectly fulfils the hyper-Raman cubic selection rules. The analysis shows that hyper-Raman spectroscopy is sensitive to all the vibrations of the average cubic Pm3¯m symmetry group of PMN, the three polar F1u- and the silent F2u-symmetry modes. All these vibrations can be identified in the Raman spectra alongside other vibrational bands likely arising from symmetry breaking in polar nanoregions.

The experience of a Tunisian referral centre in prenatal diagnosis of Xeroderma pigmentosum.

AIMS: Xeroderma pigmentosum (XP, OMIM 278700-278780) is one of the most severe genodermatoses and is relatively frequent in Tunisia. In the absence of any therapy and to better manage the disease, we aimed to develop a molecular tool for DNA-based prenatal diagnosis. METHODS: Six consanguineous Tunisian XP families (4 XP-A and 2 XP-C) have benefited from a prenatal diagnosis. Screening for mutations was performed by direct sequencing, while maternal-foetal contamination was checked by genotyping. RESULTS: Among the 7 prenatal diagnoses, 4 foetuses were heterozygous for the screened mutation. Exclusion of contamination by maternal cells was checked. Mutations were detected at a homozygous state in the remaining cases, and the parents decided to terminate pregnancy. CONCLUSION: Our study illustrates the implementation of prenatal diagnosis for better health support of XP in Tunisia.

[Tunisian version validation of quality life's questionnaire for chronic inflammatory disease of intestine]. / Validation de la version tunisienne du questionnaire de la qualité de vie dans les maladies inflammatoires chroniques de l'intestin.

BACKGROUND: The systematic evaluation of the quality of life is essential in the management of patients with chronic bowel disease ( IBD) inflammatory diseases. AIM: Translate in Tunisian Arabic dialect the English version of «inflammatory bowel disease questionnaire¼ (UK- IBDQ ) and validated by studying its psychometric validity, discriminative ability, reliability and sensitivity to change. METHODS: 80 Tunisian patients with IBD completed the Tunisian version of the IBDQ (T- IBDQ ) , a visual analog scale , the SF- 36, the Harvey- Bradshaw index for Crohn's disease , and the index Simple clinical colitis activity for ulcerative colitis. RESULTS: The T- IBDQ included in the final version 5 fields. The internal validity of the items was satisfactory for all patients. TIBDQ was correlated with scores of SF- 36, visual analog scale scores and indices of activity of IBD. T- IBDQ distinguish between active disease and inactive disease . He was also sensitive to changes in disease activity . CONCLUSION: We validated in this work a Tunisian dialect Arabic version of the IBDQ : T- IBDQ . Its validity, discriminative ability , reliability and sensitivity to change were demonstrated.

[Trisomy 21 and cancers]. / Trisomie 21 et cancers.

Patients with trisomy 21, still called Down's syndrome (DS), present a particular tumoral profile compared to the general population with an increased incidence of leukaemia in the childhood and a low risk of solid cancer in the adulthood. DS children indeed present a 50-fold risk of developing a leukaemia compared to age-matched non-trisomic children and most of them develop a specific myelodysplasic disorder called transient myelodysplasic disorder. In spite of the low incidence of solid tumors, some are very rare as breast cancer, nephroblastoma, neuroblastoma and medulloblastoma, whereas the others remain more frequent as retinoblastoma, lymphoma and gonadal and extragonadal germ cell tumours. In this review, we present possible mechanisms which can favour, or on the contrary repress the formation and progression of tumours in DS patients, which are related to gene effect dosage of oncogenes or tumour repressors on chromosome 21, tumour angiogenesis, apoptosis and epithelial cell-stroma interactions.

Association of the RAVER2 gene with increased susceptibility for ulcerative colitis.

Crohn's disease (CD), ulcerative colitis (UC), systemic lupus erythematosus (SLE) and autoimmune polyglandular syndromes (APS) are autoimmune diseases (ADs) that may share common susceptibility pathways. We examined ribonucleo-protein, polypyrimidine tract-binding protein (PTB)-binding 2 (RAVER2) loci for these diseases in a cohort of 39 CD cases, 67 UC cases, 93 SLE cases, 60 APS cases and 162 healthy control subjects of Tunisian origin. We genotyped 3 SNPs of RAVER2 (rs2780814, rs1333739 and rs2780889) and evaluated it genetic association with each ADs, using X2-test. For each association, odds ratio (OR) and 95% CI were calculated. We show that rs2780814 is significantly associated with UC (P = 0.00016, P(corr) = 0.00048, OR = 3.66 (1.82; 7.34)). We also observed a trend of possible association to SLE (P = 0.023, P(corr) = 0.69, OR = 2.19 (1.1; 4.36)). None of these RAVER2 SNPs were associated with CD and APS susceptibility. These findings establish RAVER2 as a new UC genetic susceptibility factor and reveal a genetic heterogeneity of the associated polymorphisms and risk alleles between ADs suggesting different immunopathological roles of RAVER2 in these diseases.

[Creation and report of the Tunisian Fanconi Anemia Registry (TFAR)]. / Création et rapport du registre tunisien de l'anémie de Fanconi (TFAR).

INTRODUCTION: Fanconi anemia (FA) is a genetically and phenotypically heterogeneous inherited disease. Many groups have established FA registries. In Tunisia, in collaboration with the Tunisian Fanconi Anemia Study Group (TFASG), we set up the Tunisian Fanconi Anemia Registry (TFAR). PATIENTS AND METHODS: We contacted all hematology and pediatrics departments to include their FA patients diagnosed between January 1983 and December 2008. The registry is available on the TFASG web site (www.fanconi-tunisie.net). RESULTS: Sorting the files brought out 142 patients belonging to 118 families. The mean age at diagnosis was 11 years. There was consanguinity in 86%, malformative syndrome in 91%, and pancytopenia at diagnosis in 69%. Of 28 patients, 95% belonged to the FANCA group. Androgen treatment was given in 109 cases and genoidentical bone marrow transplantation (BMT) in 27 patients. The diagnosis of a myelodysplastic syndrome was retained in 4%, acute leukemia in 6%, and a solid tumor in 2%. The median overall survival time in all patients is 17 years 5 months; it is significantly better in patients having received allografts (p=0.01). CONCLUSION: FA seems frequent in Tunisia, which is in part explained by the high consanguinity and endogamy in this country. Hematologic impairment is still the most frequent revealing circumstance of the disease. It is often severe or moderate and requires androgen treatment or bone marrow transplantation. BMT should be proposed to all patients with an HLA-compatible donor.

Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.

Xeroderma pigmentosum (XP) is a rare disorder characterized by a high skin sun-sensitivity predisposing to skin cancers at an early age. Among Tunisian XP patients with an intermediate skin phenotype, 92% presented neurological abnormalities related to XPA gene deficiency. Clinical variability of the XP-A phenotype is associated with a mutational heterogeneity. In the present study, two Tunisian families with severe dermatological and neurological XP phenotypes were investigated in order to determine clinical characteristics and genetic basis. Two Tunisian families with four XP affected children were examined in the Dermatology Department. Clinical features showed severe presentation of the disease. Coding regions of the XPA gene were analysed by direct sequencing. Results showed the presence of a novel mutation, p.E111X, in three patients belonging to the same family and presenting a very severe phenotype i.e. development of skin lesions and neurological signs before 1 year age. For the other patient, we identified a nonsense mutation, p.R207X, already identified in a Palestinian XP-A patient. Identification of novel causing mutations in Tunisian XP-A patients shows the genetic and mutational heterogeneity of the disease in Tunisia. Despite a relatively homogenous mutational spectrum, mutational heterogeneity for rare cases is observed because of the high rate of consanguinity.

[Atypical presentation of a premature ovarian failure with deletion of X chromosome]. / Présentation atypique d'une insuffisance ovarienne prématurée par délétion du chromosome X (à propos d'un cas).

In order to illustrate a particular clinical presentation of premature ovarian failure, we report the case of a 16-year-old girl, who presented with primary amenorrhea. Physical examination discovered central obesity and an extent acanthosis nigricans in the neck and in the axillae. Pubertal stage was quoted S3P3 and external genitalia were normal. Oral glucose test revealed glucose intolerance and hormonal investigation discovered hyperinsulinemia and elevated level of FSH. Pelvic echography found infantile internal genitalia and genetic analysis discovered a deletion in the long arm of one of X chromosomes.

[Severe rectal bleeding in an Tunisian woman: colonic tuberculosis mimicking a tumor]. / Une rectorragie sévère sous les tropiques.

Since colonic tuberculosis is uncommon and its bifocal pseudo-tumor form is exceptional, differential diagnosis with the colonic cancer is exceedingly difficult. The purpose of this report is to describe a case of primary colonic tuberculosis in two separate locations discovered in a patient presenting with persistent massive hematochezia. A 69-year-old woman was examined for hematochezia, abdominal pain and recent weight loss. Colonoscopy revealed the presence of two ulcerated tumor-like lesions in right colon. One of these lesions caused significant stenosis. Histological examination of biopsy specimens was inconclusive. Colonic tumor with bleeding was considered as the most likely diagnosis. Surgical exploration demonstrated one tumor in the cecum and another in the ascending colon. Right hemicolectomy was performed. Histological examination of the surgical specimen demonstrated a granulomatous reaction pattern with caseous necrosis. Conventional antituberculosis treatment led to clinical improvement.

High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.

Xeroderma pigmentosum (XP, OMIM 278700-278780) is a group of autosomal recessive diseases characterized by hypersensitivity to UV rays. There are seven complementation groups of XP (XPA to XPG) and XPV. Among them, the XP group C (XP-C) is the most prevalent type in Western Europe and in the United States. We report here on the clinical and genetic investigation of XP-C patients in 14 Tunisian families. As the XPC V548A fs X572 mutation has been identified in Algerian and Moroccan populations, Tunisian patients were first screened for this mutation by a direct sequencing of exon 9 of the XPC gene. All patients with a severe clinical form had this mutation, thus showing the homogeneity of the mutational spectrum of XPC in Tunisia. A potential founder effect was searched and confirmed by haplotype analysis. Taking into account the similarity of the genetic background, we propose a direct screening of this mutation as a rapid and cost-effective tool for the diagnosis of XP-C in North Africa.

[Current profile of peritoneal tuberculosis: study of a Tunisian series of 42 cases and review of the literature]. / Profil actuel de la tuberculose péritonéale : étude d'une série tunisienne de 42 cas et revue de la littérature.

INTRODUCTION: The aim of this study was to determine the epidemiological, clinical and therapeutic features, and the outcome of peritoneal tuberculosis in an endemic area of tuberculosis on the basis of our experience. METHODS: All cases of peritoneal tuberculosis confirmed by histologic examination and hospitalized in the department of gastroenterology of Hedi-Chaker hospital between January 1987 and December 2006 were analyzed retrospectively. RESULTS: Forty-two cases (mean age 38 years) were included in this study. Clinical presentation was dominated by ascites (100%), fever (76.2%) and abdominal pain (73.8%). The average delay for consultation after the first symptom was 3.6 months. The ascites was exudative in 100% of cases with lymphocytic predominance in 96.6%. The tuberculous skin test was above 10mm in 39.1% of cases. All of our patients had a peritoneal exploration. A nodular aspect of the peritoneal cavity was found in 40 patients (95.2%). Adhesions were noted in 25 patients. Therapeutic protocols varied among years. The outcome was favorable in all patients. CONCLUSION: Diagnosing peritoneal tuberculosis is a challenge for clinicians. Coelioscopy with peritoneal biopsies still remains the method of choice to establish a definite diagnosis of peritoneal tuberculosis.

[MALT lymphoma of the rectum: a case report treated by radiotherapy]. / Lymphome de MALT du rectum : à propos d'un cas traité par irradiation.

The mucosa-associated lymphoid tissue (MALT) lymphoma is a distinct clinical pathologic entity that develops in diverse anatomic locations such as the stomach, salivary gland, thyroid, lung, skin and breast. However, colorectal involvement is extremely rare. To our knowledge, only ten cases of primary rectal MALT lymphoma have been reported in the literature. We report a 46-year-old woman with rectal MALT lymphoma, which regressed after radiotherapy. The patient had rectal bleeding. Colonoscopy showed a pseudonodular and ulcerated big fold in the rectum. Microscopic and immunohistologic studies of the biopsy specimen showed typical features of low grade MALT lymphoma. Upper endoscopy showed chronic gastritis with lymphoid follicles but without any infiltration of lymphoma cells. Helicobacter pylori infection was confirmed by histology. No extra-intestinal involvement was found on the staging evaluation, which included computed tomography (CT) of the abdomen, chest, pelvis and a bone marrow biopsy. We attempted to eradicate H. pylori with a 7-day course of omeprazole, amoxycillin, and metronidazole. Eradication was proved successful by endoscopy. Repeated colonoscopy 4 months after the end of treatment showed that the rectal tumor had not regressed. Biopsy specimens confirmed the persistent infiltration of lymphoma cells. The patient was considered to be a non-responder to eradication therapy and was indicated for radiotherapy. He underwent a total of 34 Gy. Complete regression was confirmed by colonoscopic and histologic examination at 2 months after the end of treatment. He was followed up closely with colonoscopy, but no relapse of these lesions was detected after 12 months.

[Laparoscopic treatment of perforated duodenal ulcer: 84 cases in Tunisia]. / Traitement laparoscopique des ulcères duodénaux perforés: 84 cas en Tunisie.

INTRODUCTION: The purpose of this study was to evaluate the feasibility, efficacy and safety of the laporascopic treatment of perforated duodenal ulcer. METHODS: This retrospective study included patients who underwent laparoscopic treatment of perforated duodenal ulcer during the seven-year period from 2001 to 2007. The procedure included direct suture of the perforated ulcer followed by peritoneal lavage. All patients received medical treatment including Helicobacter pylori eradication and proton pump inhibitor therapy. RESULTS: A total of 84 patients underwent laparoscopic surgery for perforated duodenal ulcer during the study period. There were 81 men and 3 women with a mean age of 28 years. Laparoscopic examination confirmed diagnosis of perforated duodenal ulcer in all cases. Direct suture of the ulcer was successful in 72 cases. In the remaining 12 cases conversion to open surgery was necessary due to difficulty in achieving peritoneal lavage in 6 cases, ulcer size and edge friability in 5, and septic shock in one. The mean duration of the procedure was 95 minutes (range, 60 to 180 minutes). The mean postoperative complication rate was 15.4%. Complications included peritonintis in one case and digestive fistula in one. There were no postoperative deaths. All patients were re-examined after 25 months. Two patients presented recurrences after the laparoscopic treatment and required tri-therapy. CONCLUSION: Laparoscopic suture of perforated duodenal ulcer is safe and effective. It avoids the need for laparotomy that is associated with a risk for septic and parietal complications. Since medical treatment is effective for ulcerous disease, there are currently no indications for radical treatment.

[Unusual tumor of the stomach]. / Tumeur inhabituelle de l'estomac.

Stomach melanomas are exceptional and often secondary to cutaneous tumors. Their symptomatology is not specific. We report the case of a 66-year-old woman, hospitalized with a three month history of epigastric pain and weight loss. Gastroscopy had revealed a polyp of the gastric mucosa. Histopathologic examination confirmed the diagnosis of a gastric infiltration by a melanoma. At exploration, there were lung, liver and bone metastasis and no cutaneous melanoma. The diagnosis of polymetastasis from a melanoma without primitive was kept. The patient died three months later.

Evaluation of DAZ microdeletions in 34 infertile men.

Microdeletions in Yq11 are a common molecular cause of spermatogenic failure in men and are recurrently detected in about 10-15% of idiopathic azoospermia and severe oligozoospermia. Screening for AZF microdeletions is often performed by multiplex PCR. AZFc deletions, involving the DAZ gene, form the majority of these deletions. The aim of this study was to evaluate in a group of 34 Tunisian infertile patients (16 oligozoospermic and 18 azoospermic men) the prevalence of DAZ microdeletions using a rapid molecular strategy: the PCR-DGGE method based on the high degree of homology between the DAZ gene and its autosomally equivalent DAZLA gene. DAZ microdeletions were detected in 8.8% of patients. The three deleted patients have a 46, XY karyotype. Two of them were azoospermic and the other had an extreme oligo-asthenoteratozoospermia with a predominant abnormality: small round head spermatozoa (Y46). Our findings suggest that PCR-DGGE method, for detection of DAZ gene deletion, could be particularly useful as a first step in the diagnosis workup of nonobstructive azoospermia and severe oligozoospermia for three reasons. First, it is a simple and fast system; second, DAZ microdeletions are the most common Y deletions; and third, partial DAZ microdeletions and mosaicism may be recognized by PCR-DGGE while only deletions removing the whole DAZ gene cluster can be detected by STS-PCR [211]. Nevertheless, this procedure has limitations because other deletions of AZFa and AZFb may go undetected. Therefore, molecular investigation by multiplex PCR must be conducted in a second step according to European guidelines for the molecular diagnosis of Y chromosome microdeletions, particularly before ICSI procedures.

[Dicentric Y chromosome]. / Les chromosomes Y dicentriques.

Dicentric Y chromosomes are the most common Y structural abnormalities and their influence on gonadal and somatic development is extremely variable. Here, we report the third comprehensive review of the literature concerning dicentric Y chromosomes reported since 1994. We find 78 new cases for which molecular studies (PCR or FISH) have been widely applied to investigate SRY (68% of cases), GBY, ZFY, RFS4Y, GCY and different genes at AZF region. For dic(Yq), all cases (n = 20) were mosaic for 45,X and 4 of them were also mosaic for a 46,XY cell line. When breakpoints were available (15/20 cases), they were in Yp11. 50% of cases were phenotypic female and 20% phenotypic male while 20% of cases were reported with gonadal dysgenesis. Gonadal histology was defined in 8 cases but only in one case, gonadal tissu was genetically investigated because of gonadoblastoma. For dic(Yp) (n = 55), mosaicism concerned only 45,X cell line and was found in 50 cases while the remainder five cases were homogeneous. When breakpoints were available, it was at Yq11 in 50 cases and at Yq12 in two cases. 54% of cases were phenotypic female, 26% were phenotypic male and 18% were associated with genitalia ambiguous. SRY was analyzed in 33 cases, sequenced in 9 cases and was muted in only one case. Gonads were histologically explored in 34 cases and genetically investigated in 8 cases. Gonadoblastoma was found in only two cases. Through this review, it seems that phenotype-genotype correlations are still not possible and that homogeneous studies of dic(Y) in more patients using molecular tools for structural characterization of the rearranged Y chromosome and assessment of mosaicism in many organs are necessary to clarify the basis of the phenotypic heterogeneity of dicentric Y chromosomes and then to help phenotypic prediction of such chromosome rearrangement.