Sophie Prevot

Gastrointestinal tuberculosis: 17 cases collected in 4 hospitals in the northeastern suburb of Paris

UNLABELLED Gastrointestinal tuberculosis is a rare form of extrapulmonary tuberculosis and its diagnosis can be difficult. AIMS To analyze the diagnostic and therapeutic characteristics of gastrointestinal tuberculosis. METHODS Retrospective study from 17 cases collected in 4 hospitals in Seine Saint-Denis between 1987 and 2002. RESULTS Seventeen cases and 19 localizations were collected: small intestine (N = 7), ileocecum (N = 6), colon (N = 4) and gastroduodenum (N = 2). Two patients had two localizations. Mean age was 43.9 years. Subjects from immigrant populations (76.5%) were preferentially affected. Twenty-three percent of patients (13 tested) were infected by human immunodeficiency virus. Weight-loss and general weakness (88%), abdominal pain (88%), fever (59%), nausea/vomiting (53%) were the predominant symptoms. The delay in diagnosis was 82 days (range: 7-180) and time before specific treatment 31.6 days (range: 7-90). Histological evidence of caseating granuloma was found in six patients. Mycobacterium tuberculosis was detected in six. Digestive imaging was abnormal in 15 patients. Mesenteric lymph nodes were the most common associated site of tuberculosis (N = 8, 47%). Mean duration of treatment was 8.2 months (range: 6-12). Thirteen patients were cured, three died and one was lost to follow up. CONCLUSION Gastrointestinal tuberculosis is not an uncommon diagnosis in the north-eastern Parisian area, especially among immigrant populations and immunodeficient patients. The most frequent localizations are the small intestine and ileocecum. Diagnosis can be made by pathology and/or bacteriology on endoscopic and/or surgical biopsy samples.

Genotype-phenotype correlation in 13q13.3-q21.3 deletion.

Pure interstitial deletions of the long arm of chromosome 13 are correlated with variable phenotypes according to the size and the location of the deleted region. Deletions involving the 13q13q21 region are rare. In order to establish interstitial 13q genotype-phenotype correlation, we used high resolution 244K oligonucleotide array in addition to conventional karyotype and molecular (fluorescent in situ hybridization, microsatellite markers analysis) techniques in two independent probands carrying a deletion 13q13 to 13q21. First patient was a 3-year-old girl with mental retardation and dysmorphy carrying a 13q13.3q21.31 de novo deletion diagnosed post-natally. The second one was a fetus with de novo del(13)(q14q21.2) associated with first trimester increased nuchal translucency. We showed that specific dysmorphic features (macrocephaly, high forehead, hypertelorism, large nose, large and malformed ears and retrognathia) were correlated to the common 13q14q21 chromosomal segment. Physical examination revealed overgrowth with global measurement up to the 95th percentile in both probands. This is the second description of overgrowth in patients carrying a 13q deletion. Haploinsufficiency of common candidates genes such as CKAP2, SUGT1, LECT1, DCLK1 and SMAD9, involved in cell division and bone development, is a possible mechanism that could explain overgrowth in both patients. This study underlines also that cytogenetic analysis could be performed in patients with overgrowth.

Genome-Wide High-Resolution aCGH Analysis of Gestational Choriocarcinomas

Eleven samples of DNA from choriocarcinomas were studied by high resolution CGH-array 244 K. They were studied after histopathological confirmation of the diagnosis, of the androgenic etiology and after a microsatellite marker analysis confirming the absence of contamination of tumor DNA from maternal DNA. Three cell lines, BeWo, JAR, JEG were also studied by this high resolution pangenomic technique. According to aCGH analysis, the de novo choriocarcinomas exhibited simple chromosomal rearrangements or normal profiles. The cell lines showed various and complex chromosomal aberrations. 23 Minimal Critical Regions were defined that allowed us to list the genes that were potentially implicated. Among them, unusually high numbers of microRNA clusters and imprinted genes were observed.

Doppler and immunohistochemical evaluation of decidual spiral arteries in early pregnancy.

Objective: The purpose of this study was to estimate spiral artery subchorionic flow at 8–11 gestational weeks (GW) by Doppler ultrasound and then to analyze these vessels in the decidua basalis using histologic, morphometric and immunohistochemical analyses. Methods: Subchorionic spiral arteries were evaluated in 5 women scheduled for aspiration at 8–11 GW. Flow velocity waveforms were sought using color and pulsed Doppler, and the diastolic/systolic (D/S) index was calculated. Transcervical biopsy specimens and aspiration products were thoroughly examined to investigate the structure of the spiral artery at the implantation site using cytotrophoblastic and arterial smooth muscle cell immunohistochemical markers (anti-cytokeratin 7 and anti-actin monoclonal antibodies). Spiral artery cross-sectional inner areas were measured and compared with the D/S index in each case. Results: Low-impedance pulsatile flow could be detected below the trophoblastic ring in all cases. Complete obstruction of a spiral artery lumen was never observed and cytotrophoblastic cells were incorporated into the vessel wall starting from the perivascular cuff. Conclusion: Both techniques evidenced that decidual spiral arteries in the placental bed are not completely obstructed at 8–11 GW.

Mastocytose systémique avec atteinte hépatique révélatrice

Resume La mastocytose systemique est une maladie rare correspondant a une proliferation mastocytaire avec localisation tissulaire multiviscerale. Bien que l’atteinte hepatique soit frequente au cours des mastocytoses systemiques, elle n’est que tres exceptionnellement revelatrice. Nous rapportons ici deux observations de mastocytose systemique dont la symptomatologie hepatique d’installation tres rapide a ete revelatrice, insuffisance hepatocellulaire dans un cas et ictere dans l’autre. Ces deux observations montrent que la mastocytose systemique, comme d’autres pathologies tumorales, peut se reveler par une symptomatologie hepatique. Cette symptomatologie hepatique revelatrice est variable, de meme que les lesions anatomo-pathologiques hepatiques. La clef du diagnostic est la mise en evidence d’une infiltration tissulaire par des mastocytes tumoraux identifies a l’aide d’immunomarquages avec les anticorps anti-tryptase et/ou -CD117 (c-kit).

Phlébite entérocolique pseudotumorale du caecum et rutoside. Une nouvelle observation

Introduction. – Enterocolic phlebitis is an entity characterized by ischemic injury of the gastrointestinal tract caused by thrombophlebitis of the mesenteric veins without arterial involvement or systemic disease. Exegesis. – We report a case of enterocolic phlebitis in a 57-year-old female treated by rutoside, revealed by intestinal obstruction related to a pseudotumoral lesion of the caecum. Conclusion. – This case adds to the four cases of enterocolic phlebitis under rutoside already reported in the literature, suggesting a possible involvement of this drug in this rare disease.