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D Cattan

Publications and source records attributed to D Cattan.

At least 19 recordsLinked to original sources
PubMed2001

The MICA region determines the first modifier locus in familial Mediterranean fever.

OBJECTIVE: Familial Mediterranean fever (FMF) is a genetically recessive inflammatory disease caused by mutations in the MEFV gene. Most patients of non-Ashkenazi Jewish ancestry or those who are homozygous for M694V manifest a severe disease course, but some express a mild form of the disease. We therefore searched for other genes which could possibly be implicated in the disease phenotype. We tested MICA (major histocompatibility complex class I chain-related gene A) because it has been associated with a number of other inflammatory disorders. METHODS: One hundred fifty FMF probands and their family members were evaluated. The MEFV gene was screened by a combination of denaturing gradient-gel electrophoresis, restriction fragment length polymorphism, and amplification refractory mutation system. The MICA transmembrane polymorphism in exon 5 was analyzed after biotin-labeled polymerase chain reaction products were loaded onto sequencing gels and subjected to autoradiography. RESULTS: The contribution of MICA to the FMF phenotype was confirmed after adjustment for the patient's ancestry and for the MEFV genotype. MEFV was individually the most important prognostic factor for the disease. However, the impact of M694V homozygosity on the age at disease onset (OR 2.3) was aggravated if patients also inherited MICA-A9 (OR 6.3). In contrast, the frequency of attacks was found to be dramatically reduced (OR 0.16) in patients with MICA-A4. CONCLUSION: We have identified the first FMF modifier locus, MICA. FMF is the first model of a Mendelian disease associated with MICA. These results clarify, at least partly, the inconsistent phenotype-MEFV correlation in FMF.

Alleles↗
PubMed2001

MEFV mutations and phenotype-genotype correlations in North African Jews and Armenians with familial Mediterranean fever.

BACKGROUND: Familial Mediterranean fever is a genetic disease in which some characteristic gene mutations have been found. OBJECTIVES: To analyze the phenotype-genotype correlations in North African Jews and Armenians with FMF. METHODS: We studied MEFV gene mutations and phenotype-genotype correlations in North African Jews and Armenians with Familial Mediterranean Fever living in France. RESULTS: M694V mutation was the most common mutation in Jews and in Armenians. Patients with M680I homozygosity or M680I/M694V compound heterozygosity had a phenotype as severe as patients with M694V homozygosity. CONCLUSIONS: This study characterizes the phenotype-genotype in specific ethnic groups of patients with FMF.

Africa, Northern↗
PubMed2001

[Hereditary hyperferritinemia syndrome and cataract].

UNLABELLED: Hereditary hyperferritinemia cataract is a recently described autosomal dominant syndrome, characterized by bilateral cataracts and elevated level of serum ferritin. PATIENTS: Three members of a family were investigated for cataract and hyperferritinemia. A 30-year-old woman had elevated serum ferritin levels and bilateral cataracts. She was treated for hemochromatosis, but serum iron and transferrin saturation were normal. Her two sons, nine and five years old, also had a high ferritin level and bilateral cataracts. RESULTS: The ferritin level was 1200 micrograms/L in the woman's serum, and respectively, 974 and 965 micrograms/L in the two boys' serum. The mother had a visual acuity of 8/10 in the right eye and 5/10 in the left eye. The cataract comprised fine crystalline cortical opacities, extending axially. The two sons had 7 to 8/10 in both eyes. No other ophthalmic abnormality was noted. These patients were heterozygous for a 16 bp deletion on the L-ferritin gene. DISCUSSION: Ferritin is an iron storage ubiquitous protein present in every cell. In hyperferritinemia cataract syndrome, serum iron and transferrin saturation are normal, and the elevated serum ferritin level is the consequence of an autosomal dominant disorder. The cataract is made up of the accumulation of small opacities disposed radially and more numerous on the outside edges, with relatively good visual acuity. The size of the cataract seems to be correlated to the serum ferritin level. In hemochromatosis, hyperferritinemia is related to increased iron stores and is not associated with cataracts.

Adult↗
PubMed2000

Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever.

Familial Mediterranean fever (FMF) is an autosomal recessively inherited disease affecting patients of the Mediterranean basin. FMF is characterized by recurrent episodes of fever accompanied with topical signs of inflammation. Some patients can develop a renal amyloidosis associated (AA) amyloidosis. The administration of colchicine is an effective preventive treatment of both the attacks and amyloidosis. The FMF gene (MEFV) was cloned and missense mutations were found to be responsible for the disease. We investigated a large series of 303 unselected and unrelated patients of various ethnic backgrounds with a clinical suspicion of FMF to confirm or invalidate the diagnosis of FMF and to determine the spectrum of MEFV mutations. Molecular analysis focused on all the most frequent mutations identified so far, and an exhaustive analysis of exon 10, containing the mutational hotspot, was performed through DNA sequencing. Sixty-two percent of Sephardic, North African Arabs, Armenian and Turkish patients were either homozygous or compound heterozygous for MEFV mutations. In other populations surrounding the Mediterranean Sea such as Greek, Italian, Portuguese, Kurdish and Lebanese populations, mutations were also found. In general, patients without Mediterranean origin had no mutations in the MEFV gene. Two new mis-sense mutations were identified in exon 10 of the MEFV gene: the S675N in an Italian patient and the M680L in a French patient without any known at-risk ethnic ancestry.

Amino Acid Substitution↗
PubMed2000

Clinical versus genetic diagnosis of familial Mediterranean fever.

The diagnosis of familial Mediterranean fever (FMF) has until recently been based on clinical signs alone. Discovery of the MEFV gene has enabled a molecular approach to diagnosis, which is already well established for diagnosing typical clinical forms of FMF. We evaluated the utility of this molecular approach in a large series of patients with various clinical presentations and ethnic origins. We looked for mutations in the MEFV gene in 303 unselected consecutive patients with a variable (from high to low) clinical suspicion of FMF. Two mutations were found in 133 patients (44%). In 22 patients (7%), the clinical diagnosis of FMF was unlikely according to the Tel Hashomer clinical criteria. Our results suggest that the spectrum of FMF-associated signs is broader than previously believed. Wider indications for genotyping should lead to more frequent diagnosis of FMF.

Adolescent↗
PubMed1998

Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF).

Familial Mediterranean Fever is one of the most frequent recessive disease in non-Ashkenazi Jews. The gene responsible for the disease (MEFV) has very recently been identified. The M694V ('MED') mutation was found in about 80% of the FMF Jewish (Iraqi and North African) chromosomes. To see if the presence of this mutation could be correlated with particular traits of the disease, we examined a number of clinical features in a panel of 109 Jewish FMF patients with 0, 1 or 2 MED mutations. We showed that homozygosity for this mutation was significantly associated with a more severe form of the disease. In homozygous patients, the disease started earlier (mean age 6.4 +/- 5 vs 13.6 +/- 8.9) and both arthritis and pleuritis were twice as frequent as in patients with one or no M694V mutation. Moreover, 3/3 patients with amyloidosis displayed two MED mutations. No association was found with fever, peritonitis, response to colchicine and erysipeloid eruption. The present result strongly suggests the potential prognostic value of the presence of this mutation.

Africa, Northern↗
PubMed1998

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurring attacks of fever and serositis. It affects primarily North African Jews, Armenians, Turks and Arabs, in which a founder effect has been demonstrated. The marenostrin-pyrin-encoding gene has been proposed as a candidate gene for the disease ( MEFV ), on the basis of the identification of putative mutations clustered in exon 10 (M680V, M694I, M694V and V726A), each segregating with one ancestral haplotype. In a search for additional MEFV mutations in 120 apparently non-founder FMF chromosomes, we observed eight novel mutations in exon 2 (E148Q, E167D and T267I), exon 5 (F479L) and exon 10 (I692del K695R, A744S and R761H). Except for E148Q and K695R, all mutations were found in a single chromosome. Mutation E148Q was found in all ethnic groups studied and in association with a novel ancestral haplotype in non-Ashkenazi Jews (S2). Altogether, these new findings definitively establish the marenostrin/pyrin-encoding gene as the MEFV locus.

Africa, Northern↗
PubMed1997

[Gastric carcinoid tumors].

Gastric carcinoid tumors are divided up into three groups of various presentation and prognosis. Carcinoids tumors on fundic atrophic gastritis with achlorhydria resistant to pentagastrine stimulation, the most numerous, and those observed in patients with Zöllinger-Ellison syndrome, are fundic, readily small and numerous, of slow evolution with rare metastasis and without carcinoid syndrome. They are associated with an hypergastrinemia of antral or tumoral origin, responsible for a diffuse endocrin hyperplasia upon which they rest. The other carcinoid tumors, called sporadic, are usually unique and more voluminous, much more aggressive. They are accompanied by a carcinoid syndrome in one third of the cases. They occur without any hypergastrinemia and rest on a entirely normal gastric mucosa. The diagnosis of gastric carcinoid tumor imperatively requires an assessment intended to classify the tumors and to set up therapeutic indications.

Achlorhydria↗
PubMed1997

False-positive somatostatin receptor scintigraphy due to an accessory spleen.

A patient with previous left caudal pancreatectomy and splenectomy presented with Zollinger-Ellison syndrome. Abdominal CT and endoscopic ultrasonography revealed a mass in the splenic area. Somatostatin receptor scintigraphy showed a nodular increase of the uptake corresponding to the lesion detected with conventional imaging. A second laparotomy was performed and the mass was resected. Histological analysis showed that the nodular lesion was an accessory spleen. Since physiologic uptake of 111In-pentetreotide is seen in the spleen, an accessory spleen mimicking a tumor, specially after previous splenectomy, may result in false-positive somatostatin receptor scintigraphy.

False Positive Reactions↗
PubMed1996

[Clinical and radiological aspects of tuberculous splenic abscesses. Presentation of 3 cases].

Tuberculous splenic abscess is an exceptional disease with silent presentation in disseminated tuberculosis infection. Imaging procedures allow to suspect this diagnosis in case of multilocular nodules of the spleen, or unilocular pseudotumoral macronodule. We report three cases of tuberculous splenic abscesses in two patients with acquired immunodeficiency syndromes and one with polycythemia vera. Under antituberculous treatment, clinical evolution was good with regression of the radiological features.

Abscess↗
PubMed1995

Pathophysiological effects of long-term acid suppression in man.

A critical evaluation has been made of the available evidence in man of the effects of prolonged low acid states on the structure and function of the stomach. Various human models have been examined. 1. Ageing does not affect acid output from the normal male stomach, and there may be an increase in women. With progressive atrophy of the corpus mucosa, which is more frequent and rapid in patients with gastric ulcer, there is an associated loss of secretory function. Chronic gastritis and atrophy are the most important age-related changes, which in many cultures are hypothesized to develop via a prior Helicobacter pylori-related gastritis. However, H. pylori colonization of the mucosa decreases with increasing grades of gastric atrophy probably because intestinal metaplasia provides a hostile environment. Atrophy and intestinal metaplasia are associated with precancerous lesions and gastric cancer. Apparent hyperplasia of the gastric argyrophil endocrine cells is a common and spontaneous phenomenon in patients with atrophic gastritis, which in part may be related to the preferential loss of nonendocrine cells. 2. Pernicious anemia is associated with a complete lack of acid production, marked hypergastrinemia, and endocrine cell hyperplasia in the majority of patients. ECL-cell carcinoids and gastric cancer occur with a prevalence of 3-7%, and endoscopic surveillance in routine clinical practice is not warranted. 3. Gastric ECL-cell carcinoids are rare events that have been described in association with two diseases in man, pernicious anemia and Zollinger-Ellison syndrome as part of multiple endocrine neoplasia syndrome type I, and usually relate to marked hypergastrinemia and the presence of chronic atrophic gastritis with gastric antibodies or a genetic defect rather than the presence or absence of acid. Regression or disappearance of ECL-cell carcinoids, either spontaneously or after removal of the gastrin drive, has been recorded. Lymph node, and rarely hepatic, metastases are documented but death in these cases has been anecdotal. 4. Therapy with H2 antagonists may result in up to a twofold rise in serum gastrin levels but in man no endocrine cell hyperplasia has been recorded. However, the data for H2 antagonists on these aspects are very limited. There is no drug-related risk of gastric or esophageal cancer, although the incidence of the latter may be raised. Long-term treatment with omeprazole is associated with a two- to fourfold increase in gastrin levels over baseline values in one third of patients and apparent endocrine cell hyperplasia in 7% of cases overall.(ABSTRACT TRUNCATED AT 400 WORDS)

Aging↗
PubMed1995

Helicobacter pylori infection: physiopathologic implication of N alpha-methyl histamine.

BACKGROUND/AIMS: In the gastric mucosa of Helicobacter pylori-infected subjects, we previously detected N alpha-methyl histamine (N alpha-MeHA), a minor catabolite of histamine and a potent agonist of histamine H3 receptors. The origin of N alpha-MeHA and its effects on gastric histamine and somatostatin in infected subjects were investigated. METHODS: Ten noninfected patients and 13 patients with intense colonization were compared. N alpha-MeHA content and its synthetic enzyme activity, N alpha-histamine methyltransferase, binding of [3H]N alpha-MeHA, histamine and somatostatin contents, and histidine decarboxylase activity were assayed in antral and fundic biopsy specimens and in cultured H. pylori strains. RESULTS: Gastric histamine and somatostatin contents as well as histidine decarboxylase activity were decreased in infected patients and were restored to normal after antimicrobial treatment. Both N alpha-MeHA and N alpha-histamine methyltransferase activity were present in the mucosa of infected patients and in cultured strains and were very low in noninfected patients or after eradication of H. pylori. [3H]N alpha-MeHA bound to gastric mucosa but not to cultured strains. The [3H]N alpha-MeHA specific binding sites were characterized as H3 receptors. The amount of bound [3H]N alpha-MeHA seemed correlated positively with somatostatin content and histidine decarboxylase activity and negatively with N alpha-MeHA content and N alpha-histamine methyltransferase activity. CONCLUSIONS: H. pylori is the main source of gastric N alpha-MeHA that may lower histidine decarboxylase activity and somatostatin content through H3 receptors.

Gastric Mucosa↗
PubMed1995

[Treatment of a hemorrhagic duodenal varice by endoscopic sclerotherapy].

We report the case of a duodenal varix rupture in a 37-year-old man revealing an alcoholic cirrhosis. Endoscopic diagnosis of this duodenal varix was difficult because of its atypical and changing appearance. Endoscopic sclerotherapy was completely successful and there was no recurrent bleeding. Although duodenal varix is rare, this case and the literature emphasize the importance of considering this diagnosis in all patients with duodenal tumoral lesions and suspected portal hypertension. In this context, duodenal biopsy can be dangerous and should be avoided. In case of duodenal varix rupture, endoscopic sclerotherapy appears to be a safe and efficient first-choice therapy.

Adult↗
PubMed1995

[Endoscopic diagnosis of a biliodigestive fistula of tuberculous origin revealing acquired immunodeficiency syndrome].

We report the case of a 32-year-old Malian man with abdominal tuberculosis revealing acquired immunodeficiency syndrome. A gastroscopy was made for epigastric pain and showed caseum in a digestive fistula with acid fast bacilli. Mycobacterium tuberculosis infection was confirmed by sputum culture. An early antituberculous therapy was prescribed. Outcome was good with rapid fistula closing and slower mass diminution of the abdominal lymph nodes. This case report confirms nodal tuberculosis as a possible cause of digestive fistulae. Rapid endoscopic diagnosis of this tuberculous fistula led to diagnosis of acquired immunodeficiency syndrome and early adapted medical treatment without invasive diagnostic methods.

AIDS-Related Opportunistic Infections↗
PubMed1994

Colchicine concentration in leukocytes of patients with familial Mediterranean fever.

Free and total plasma, granulocyte and mononuclear cell colchicine concentrations were measured by radioimmunoassay in 30 patients with familial Mediterranean fever treated with colchicine 0.5 to 2 mg day-1. Colchicine concentrations showed a large intersubject variability in plasma (0.13-1.75 ng ml-1), granulocytes (4 to 64 ng/10(9) cells), and mononuclear cells (11.4 to 57.6 ng/10(9) cells). Whereas unbound and total plasma colchicine concentrations were well correlated, no correlation was found between total or free plasma and granulocyte or mononuclear cell colchicine concentrations and dose of administered colchicine. In contrast, total or free plasma and granulocyte or mononuclear cell colchicine concentrations were correlated using a hyperbolic function indicating saturable colchicine distribution in both leukocyte populations.

Administration, Oral↗