Pernicious anemia: what are the actual diagnosis criteria?

A gastric intrinsic factor output under 200 U/h after pentagastrin stimulation (N > 2000 U/h) is specific for pernicious anemia. The other findings are either variable or non specific. Serum intrinsic factor antibodies, considered as specific in general practice, are present only in half of the patients with pernicious anemia.

Characterization of new mutations in the 5'-flanking region of the familial Mediterranean fever gene.

Familial Mediterranean fever (FMF) is a recessive autoinflammatory disease commonly found in the Mediterranean populations. Genetic diagnosis has developed since the discovery of the causative gene MEFV in 1997. As many patients could not be confirmed genetically by routine exon screening, we searched for mutations in the 5'-flanking region of this gene.

Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever.

Objective: Familial Mediterranean fever (FMF), the prototype of autoinflammatory disorders, is caused by recessive mutations in the MEFV gene. Some FMF patients develop renal amyloidosis, a potentially fatal condition. This complication has mainly been associated with the M694V mutation, although the different study designs, small numbers of patients, and/or evaluation of few or no covariables calls this association into question.

Early and severe amyloidosis in a patient with concurrent familial Mediterranean fever and pseudoxanthoma elasticum.

A young woman patient had early and extensive familial Mediterranean fever (FMF)-related amyloidosis and pseudoxanthoma elasticum (PXE). She had the novel G1042S mutation in the ATP-binding cassette subfamily C member 6 (ABCC6) gene, responsible for PXE, and the mutation M694I in MEFV, the FMF gene. Both mutations were homozygous, in agreement with consanguinity in the parents.

MEFV mutation carriers and diseases other than familial Mediterranean fever: proved and non-proved associations; putative biological advantage.

Vasculitis is definitely associated with familial Mediterranean fever. This familial Mediterranean fever-associated vasculitis takes one of three forms: polyarteritis nodosa, with or without microscopic polyangiitis, and Henoch-Schonlein purpura. Behcet disease and inflammatory bowel diseases may also be associated with familial Mediterranean fever, though this is yet to be formally proven.

CATSPER2, a human autosomal nonsyndromic male infertility gene.

In the course of positional cloning of the Congenital Dyserythropoietic Anemia type I (CDAI) [MIM 224120] gene on 15q15.1-15.3, we examined a family of French origin, in which the propositus suffered from asthenoteratozoospermia and nonsyndromic deafness in addition to CDAI.

Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.

Congenital dyserythropoietic anemias (CDAs) constitute a rare group of inherited red-blood-cell disorders associated with dysplastic changes in late erythroid precursors. CDA type I (CDAI [MIM 224120], gene symbol CDAN1) is characterized by erythroid pathological features such as internuclear chromatin bridges, spongy heterochromatin, and invagination of the nuclear membrane, carrying cytoplasmic organelles into the nucleus. A cluster of 45 highly inbred Israeli Bedouin with CDAI enabled the mapping of the CDAN1 disease gene to a 2-Mb interval, now refined to 1.

The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome.

Objective: To characterize the frequency, clinical signs, and genotypic features of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a series of 394 patients of various ethnic origins who have recurrent inflammatory syndromes.

Methods: Sequencing of the coding region of the TNFRSF1A gene was performed in 128 patients in whom there was a high suspicion of TRAPS, and denatured high-performance liquid chromatography was used to systematically screen for TNFRSF1A in 266 patients with recurrent inflammatory syndrome and no or only 1 Mediterranean fever gene (MEFV) mutation.

Results: TNFRSF1A mutations were found in 28 (7.

Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks.

Background: Among hereditary fevers characterized by recurrent attacks of fever and organ localized inflammation, familial Mediterranean fever (FMF), and tumour necrosis factor receptor superfamily 1A (TNFRSF1A) receptor associated periodic syndrome (TRAPS) are diseases with identified genes that can be associated with renal amyloidosis of the AA type. In this study we have characterized FMF and TRAPS genotypes in 38 unrelated patients suffering from amyloidosis AA and recurrent inflammatory attacks.

Methods: Mutations of the MEFV and TNFRSF1A genes, responsible respectively for FMF and TRAPS, were searched for by amplifying, using polymerase chain reaction (PCR), genomic DNA, and direct sequencing.

[Familial Mediterranean fever].

Familial mediterranean fever is a hereditary inflammatory disease, with autosomal recessive transmission, due to mutations in the MEFV gene. The MEFV gene, located on the short arm of chromosome 16, codes an anti-inflammatory protein, marenostrine or pyrin. The disease is characterised by paroxysmal bouts of fever with acute and painful serositis.

[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.

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.

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.

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.

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.

Inflammatory bowel disease in non-Ashkenazi Jews with familial Mediterranean fever.

Familial Mediterranean fever and inflammatory bowel disease are two inflammatory conditions. We showed that inflammatory bowel disease was particularly frequent and severe in non-Ashkenazi Jewish patients with familial Mediterranean fever.

Diagnosis and treatment of ECL cell tumors.

The diagnosis of ECL-omas is easy to perform. In patients with Zollinger-Ellison syndrome (ZES), ECL-omas are almost always observed in the setting of multiple endocrine neoplasia type I. In patients without ZES, the first step is to discard non-gastrin-related sporadic ECL-omas whose prognosis is poor.

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.

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.

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.

[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.