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M Rozenbaum

Publications and source records attributed to M Rozenbaum.

At least 37 records · Page 2Linked to original sources

Familial aggregation in Behçet's disease: high frequency in siblings and parents of pediatric probands.

OBJECTIVE: To examine familial aggregation of Behçet's disease (BD) in pediatric compared with non-pediatric patients. METHODS: A retrospective study was conducted to analyze data collected from 572 patients with BD in whom the diagnosis was made with criteria defined by the International Study Group for BD. The age of attaining criteria (the age at which the patient met the study group criteria) was evaluated for each patient. Recurrence risks were calculated for the pediatric group from information provided by 45 families. RESULTS: Of the 505 patients from whom the age of attaining criteria could be ascertained, 106 showed definitive BD before the age of 16 years and were considered as pediatric patients with BD; the other 399 were classified as non-pediatric patients. Thirteen of the 106 pediatric patients (12.3%) and only 9 of the 399 non-pediatric patients (2.2%) had relatives affected by BD. This excess of familial cases in the pediatric group compared with the non-pediatric group was significant (P <.0001, chi2 analysis). Moreover, the mean age of attaining criteria in familial cases (17. 95 years [SD = 8.62]) was significantly lower than in sporadic cases (27.28 years [SD = 11]; P <.0001, Student t test). The recurrence risk among siblings and parents who met the International Study Group criteria was 0.1. CONCLUSION: Our data support the hypothesis of a genetic component in the pathogenesis of BD, and we propose the inclusion of familial history in the definition of pediatric BD.

Adolescent↗

Rheumatic syndromes: clues to occult neoplasia.

OBJECTIVES: Rheumatic disorders associated with cancer include a variety of conditions, most of which have no features distinguishing them from idiopathic rheumatic disorders. It is generally held that an extensive search for occult malignancy in most rheumatic syndromes is not recommended unless accompanied by specific findings suggestive of malignancy. The objective of this review are to identify rheumatic syndromes associated with cancer, to call attention to features that may suggest the presence of a hidden cancer, and to examine the role to additional clinical and laboratory data as clues to the possible neoplastic cause of those syndromes. METHODS: A MEDLINE search of the literature dealing with cancer-associated rheumatic syndromes was conducted. RESULTS: Review of the literature identified significant progress in this area. First, the association of malignancy with certain rheumatic syndromes was convincingly established, such as asymmetric polyarthritis presenting in the elderly with an explosive onset, rheumatoid arthritis with monoclonal gammopathy, Sjögren's syndrome with monoclonality, hypertrophic osteoarthropathy, dermatomyositis, polymyalgia rheumatica with atypical features, Lambert-Eaton myasthenic syndrome, palmar fasciitis and arthritis, eosinophilic fasciitis poorly responsive to corticosteroid therapy, erythema nodosum lasting more than 6 months, and onset of Raynaud's phenomenon or cutaneous leukocytoclastic vasculitis after age 50 years. Second, the list of cancer-associated rheumatic syndromes was extended by including additional entities such as benign edematous polysynovitis, sacroiliitis, adult-onset Still's disease, dermatomyositis sine myositis, systemic sclerosis, Sweet's syndrome, osteomalacia, skeletal hyperostosis, antiphospholipid syndrome, and essential mixed cryoglobulinemia. Third, evidence was provided substantiating that certain long-standing rheumatic syndromes, in particular rheumatoid arthritis, Felty's syndrome, Sjögren's syndrome, dermatomyositis, systemic sclerosis, systemic lupus erythematosus, and temporal arteritis behave like "premalignant conditions." Fourth, it was shown that the recognized tumor markers alpha-fetoprotein, prostate-specific antigen, CA-125, CA 19-9, and CA-3 have low sensitivity and specificity in screening for occult cancer in a population of rheumatic patients, whereas the presence of a monoclonal gammopathy in rheumatoid arthritis and the monoclonal antibody 17-109 in Sjögren's syndrome are reliable signs of malignant transformation. CONCLUSIONS: The presence of specific rheumatic syndromes and certain clinical and laboratory findings may justify a workup for hidden cancer. Studies of the epidemiology of the cancer-associated rheumatic syndromes and evaluation of the validity of aforementioned clues in prospective studies are goals for future investigations.

Environmental Exposure↗

Scintigraphy of de Quervain's tenosynovitis.

The scintigraphic pattern of de Quervain's tenosynovitis has not previously been described. Similar three-phase bone scintigraphy patterns were found in four patients with this condition. The characteristic abnormalities consisted of an elongated area of increased uptake in the blood flow and blood pool phases in the anatomical course of the first dorsal compartment of the wrist, together with increased focal uptake of 99Tcm-MDP in the radial styloid on the delayed images. This pattern should be recognized and included in the differential diagnosis of increased uptake of 99Tcm-MDP in the radial compartment of the wrist.

Adult↗

[Chemical synovectomy in arthritis by intra-articular injection of osmic acid].

18 patients suffering from persistent synovitis despite medical therapy were treated with an intra-articular injection of osmic acid. After 1 year of follow-up, 68% had good results and there were no complications nor detectable radiographic evidence of disease progression. Because osmic acid is almost as effective as surgical synovectomy and is cheap and easy to administer, it can be recommended as the first choice for treatment of corticosteroid-resistant arthritis in the early stages of the disease.

Adult↗

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↗

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↗

Dermatomyositis and nasopharyngeal carcinoma.

A nasopharyngeal carcinoma was diagnosed in a 37-year-old man with a two year history of dermatomyositis. The physical and laboratory examinations excluded further medical problems. To our knowledge, this is the first case of dermatomyositis associated with nasopharyngeal carcinoma in a white Israeli Jewish patient.

Adult↗

Familial Mediterranean fever clinical and genetic features in Druzes and in Iraqi Jews: a preliminary study.

OBJECTIVE: A number of differences have been noted in clinical familial Mediterranean fever (FMF) among ethnic groups. Iraqi Jews and Druzes are characterized by less severe disease. The differences in disease expression raise the possibility of background genes peculiar to specific ethnic groups. METHODS: We analyzed a series of FMF linked microsatellite markers and searched for gene mutations in these 2 populations. RESULTS: We observed a conserved haplotype in 46% of the FMF druze chromosomes that was different from the Mediterranean haplotype but identical to the ARM3 haplotype. In contrast, 56% of the FMF chromosomes in Iraqi Jews displayed the same mutation as that found in Jews from North Africa. CONCLUSION: Variable expression in FMF is probably due to both allelic heterogeneity and/or modifier genes as well as environmental factors.

Adolescent↗

Nuchal fibroma.

Nuchal fibroma was diagnosed in a 54-year-old diabetic woman with a two year history of increased skin thickness of her low-posterior neck and interscapular region, causing discomfort and limitation of neck and arm motion. Physical and laboratory examinations excluded further disorders. The patient was released, free from symptoms, after complete excision of the soft tissue tumor.

Adipose Tissue↗

Scintigraphy of posterior tibial tendinitis.

UNLABELLED: Our goal was to describe the typical scintigraphic pattern of posterior tibial tendinitis. METHODS: Bone scintigraphs were reviewed to study the scintigraphic characteristics of posterior tibial tendinitis in nine patients with posterior tibial tendinitis related to generalized rheumatic disease and in eight patients with isolated posterior tibial tendinitis. RESULTS: The scintigraphic pattern of posterior tibial tendinitis is elongated increased uptake in the blood flow and blood-pool phase along the anatomical course of the tibialis posterior tendon at the medial aspect of the ankle (malleolus region). Static images demonstrate increased focal abnormal uptake at the medial malleolus and in the navicular bone. CONCLUSION: Bone scintigraphy depicts a characteristic pattern of posterior tibial tendinitis. It is useful for the early diagnosis of idiopathic- or rheumatic-related posterior tibial tendinitis.

Adult↗

Tumoral calcinosis: report of a case and brief review of the literature.

A patient with a 32-year history of tumoral calcinosis is described. The calcified lesions involved the soft tissues in the hips, shoulders, and ankles. Periodically, a chalky semifluid material extruded through several cutaneous sinuses. Laboratory tests including serum calcium concentration were normal, except for slight elevation of serum phosphorous levels. Ophthalmologic examination revealed the interesting finding of subretinal angioid streaks. The dental radiograms disclosed pathognomonic short bulbous roots and partial obliteration of pulp cavities, while the radiological evaluation of the tumoral masses revealed typical features of tumoral calcinosis.

Adult↗

Cancer-associated rheumatic disorders: clues to occult neoplasia.

Interest in the rheumatologic manifestations of cancer is related in part to practical considerations, ie, earlier cancer diagnosis is possible through enhanced awareness of cancer-associated rheumatic syndromes. The spectrum of rheumatic disorders associated with cancer includes over 30 conditions, including hypertrophic osteoarthropathy, polymyalgia rheumatica, palmar fasciitis with polyarthritis, most autoimmune connective tissue diseases, and the more recently described antiphospholipid syndrome. It is generally held that extensive search for occult malignancy in most rheumatologic disorders is not cost efficient and not recommended unless accompanied by specific findings suggestive of malignancy. The present article discusses the supplementary findings that may justify malignancy evaluation.

Humans↗

Idiopathic granulomatous appendicitis. Report of five cases, one of which presented as migratory arthritis.

The clinical presentation of acute appendicitis and the idiopathic granulomatous variety are, as a rule, indistinguishable. Five patients with idiopathic granulomatous appendicitis, treated during past decade, had histological acute and chronic appendicitis abounding with granulomas. Investigations not disclosing a systemic or enteric granulomatous disease and the patients' long-term complete postoperative recovery support the diagnosis of idiopathic granulomatous appendicitis.

Adult↗

Cutaneous eruption in a patient with cardiac myxoma.

Atrial myxoma was diagnosed in a young woman who had cutaneous and constitutional manifestations clinically suggestive of cutaneous vasculitis without cardiac signs or symptoms. Scrupulous physical and laboratory examinations excluded additional medical disorders. The patient was totally cured by surgical removal of the tumor. Various aspects of the association of cardiac myxoma with dermatological findings are discussed, emphasizing the importance of echocardiography in the diagnostic workup of various skin abnormalities, including unexplained vasculitis, even in the absence of cardiac findings.

Adult↗