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R Safadi

Publications and source records attributed to R Safadi.

79 records · Page 5Linked to original sources
PubMed1994

Lymphoma-associated pancreatitis as a presenting manifestation of immunoblastic lymphoma.

A 55 year old man presented with clinical signs and symptoms of subacute pancreatitis of unknown aetiology. Two weeks later, inguinal lymphadenopathy developed and a lymph node biopsy revealed a B cell immunoblastic lymphoma. Computerized tomography showed enlargement of the pancreas and imaging features consistent with pancreatitis. Administration of VACOP-B combination chemotherapy achieved complete resolution of the pancreatic mass and the enlarged lymph nodes. We consider this patient to have had lymphoma associated pancreatitis. This case represents a rare clinical presentation of lymphoma suggesting an alternative aetiology of subacute pancreatitis in some cases.

Acute Disease↗
PubMed1994

Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics.

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27 hydroxylase gene (CYP27). Clinically, a multitude of neurological, skeletal, and vascular manifestations are usually present. Premature atherosclerosis has been reported in CTX and may be related to the metabolic derangement caused by the deficiency of the enzyme. A CYP27 nonsense mutation created by the deletion of cytosine376 has been identified in four Israeli Druze CTX patients residing in the same village. Molecular screening for this mutation in families of two probands revealed a total of 10 homozygotes and 28 heterozygotes whose clinical and biochemical characteristics are described. Overall, except for tendon xanthomas, most of the clinical manifestations progress with age. The CYP27 mutation was associated with modest differences in the levels of plasma total cholesterol (TC) and LDL cholesterol (LDL-C). The distribution of plasma concentrations of TC and LDL-C in the CTX families was consistent with a polygenic model. A similar model that includes also the effects of the CYP27 genotypes was not better supported by the data. It may be concluded that, in CTX, the presence of a CYP27 mutation does not significantly affect the plasma concentrations of lipids and lipoproteins. Therefore, the reported increased prevalence of atherosclerosis in this disease must be related to other factors.

Adolescent↗
PubMed1993

Treatment of the hematological manifestations of dyskeratosis congenita.

Dyskeratosis congenita is a congenital multisystem disorder, characterized by skin pigmentation, dystrophic nails, and leukoplakia. Hematologic abnormalities progressing to severe pancytopenia play a significant role in the poor prognosis of afflicted patients. We report on a patient with dyskeratosis congenita and severe aplastic anemia, complicated by life threatening infection. The patient was treated with recombinant granulocyte-macrophage colony-stimulating factor. This therapy resulted in a moderate and transient improvement in absolute neutrophil counts. Current concepts regarding the pathogenesis and etiology of dyskeratosis congenita are discussed, while reviewing the available therapeutic options.

Anemia, Aplastic↗
PubMedDate not supplied

Transjugular core liver biopsy with a 19-gauge spring-loaded cutting needle.

One hundred and five sequential transjugular core liver biopsies (TJLBx) were performed in 101 patients with coagulopathy and/or ascites using the 19-gauge Quick-Core Biopsy (QCB) needle. Two-hundred and seventy-three cores were obtained in 295 passes (92. 5%). One-hundred and two of the 105 procedures (97.1%) led to a histopathologic diagnosis. One of the three nondiagnostic biopsies was done because of severe autolysis of the liver. There was one subcapsular hematoma, one hepatic arteriovenous fistula, and one liver capsular puncture. Two minor neck hematomas occurred. One death was reported (unrelated to the procedure). QCB needle TJLBx is an effective and relatively safe way to obtain core liver samples.

Adolescent↗
PubMedDate not supplied

Familial cluster of fulminant hepatitis A infection.

Hepatitis A virus is a common cause of a self-limited liver disease. Fulminant hepatitis is a rare complication of acute hepatitis A infection. We report a small epidemic of three consecutive fulminant hepatitis A infections in three previously healthy siblings. This is the first report of a cluster of fulminant hepatitis A.

Acute Disease↗