Identification of two mutations for ataxia telangiectasia among the Druze community.

Ataxia telangiectasia (AT) is a rare autosomal recessive disease characterized by progressive cerebellar ataxia, immunodeficiency, susceptibility to lymphoreticular malignancies and cancer predisposition, hypersensitivity to ionic radiation and chromosomal instability. In this study, we report a founder effect of AT with two different mutations: 1339 C > T and 6672 del GG together with 6677 del TACG, found in four Israeli Druze clans originating from three different Druze centers in the Middle East (Lebanon, Syria and Jordan). The 1339 C > T mutation, which results in a stop codon at position 447 of the ATM protein, was observed in two unrelated clans originating from Lebanon and Jordan.

[Secondary sclerosing cholangitis and chemo-embolization with lipiodol].

Two cases of sclerosing cholangitis after oily arterial chemoembolization are reported. In one patient angiocholitis with liver abscesses, in the other patient gradual cholestasis were the main clinical features. In both cases, endoscopic retrograde cholangiogram showed a stricture of the common hepatic bile duct and, in one case, irregularities of intrahepatic biliary tree.

[Biliary scintigraphy. Application to the study of chronic cholestasis].

In a sample population of 49 subjects (7 normal, 42 with various liver diseases), the parameters of the activity/time curve of trimethylbromo-iminodicetic acid (TBIDA) biliary scintigraphy were compared with the clearances of bromosulfophthalein (BSP) and indocyanine green (ICG). Correlation between T1/2 and P2 BSP slope was r = 0.50 (n = 33; P < 0.

[Surgical treatment of toxic megacolon complicating pseudomembranous colitis. Apropos of a case, review of the literature].

Toxic megacolon complicating pseudomembranous colitis has been rarely observed. Only 36 cases have been previously reported. We present herein a new case report in which pseudomembranous colitis was secondary to prophylactic antibiotherapy with pefloxacin for hip prosthesis.

Detection of specific IgG and IgA antibodies to Chlamydia trachomatis in women with salpingitis confirmed by laparoscopy.

The sera from 12 consecutive symptomatic women with laparoscopy-confirmed salpingitis were screened for the presence of specific IgG and IgA antibodies to Chlamydia trachomatis by a single antigen (L-2) immunoperoxidase assay. All women were found to have IgG and IgA antibodies to C trachomatis. Six women had positive endocervical cultures for C trachomatis, and one of these had positive cultures from the conjunctiva and fallopian tubes.

Prevalence of IgA and IgG antichlamydial antibodies in women in the third trimester of pregnancy.

The prevalence of serum antichlamydial IgA and IgG antibodies was investigated by screening 77 randomly selected patients who were in the third trimester of pregnancy. An indirect immunoperoxidase assay that quantitates IgA and IgG was used for screening. Twenty-five women had both IgA and IgG antibodies; an additional ten women had only IgG antibodies.

A comparison of culture, direct fluorescent antibody test, and a quantitative indirect immunoperoxidase assay for detection of Chlamydia trachomatis in pregnant women.

An indirect immunoperoxidase assay that quantitates antichlamydial immunoglobulin G (IgG) and IgA antibodies in serum was compared with endocervical culture and direct fluorescent antibody (MicroTrak) for detection of Chlamydia trachomatis in asymptomatic pregnant women. Of the 64 women tested by the three methods, 22 (34%) had antichlamydial IgG and IgA in their serum. The culture was positive in nine patients (14%) and the MicroTrak was positive in eight (12.

[Normal pregnancy after a Budd-Chiari syndrome treated by shunting: apropos of a case, review of the literature].

A patient who had a meso-atrial by-pass for a Budd-Chiari syndrome a year before conception carried her pregnancy to term. The authors have reviewed the literature. When they had studied the literature the authors took into account cirrhoses of the liver and portal hypertension in association with pregnancy.

Granular natural-killer cells develop into mucus-secreting cells.

Colonies of granular natural-killer cells selectively develop in lymph-node cell cultures of nude mice after stimulation with rat T-cell growth factor. When these cells are grown on X-irradiated monolayers prepared from 16-18-day-old mouse embryos, they are triggered to synthesize and secrete a sulphated glycoprotein that can be identified as mucus. As a result of an erosive process of the granules, the mucoid material accumulates in pools in the cytoplasm matrix.

[Do latent bacteremia and endotoxinemia exist in cirrhotics? A study of 48 patients].

Forty-eight patients with alcoholic cirrhosis and absence of patent infection were assessed for asymptomatic bacteriemia and endotoxemia. 280 blood cultures have been performed and 190 serum samples collected for study by two different methods of the limulus test (LT). Bacteriemia was found in 7 blood cultures from 3 patients.

[Treatment of cholesterol gallstones with ursodesoxycholic acid (author's transl)].

A double-blind clinical trial comparing ursodesoxycholic acid and chenodesoxycholic acid in patients with cholesterol stones in the gall-bladder showed that ursodesoxycholic acid was superior to the older drug not so much in percentage of biliary calculi dissolved but in dosage reduction (50%) and improved clinical and biological tolerance.