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Biomedical subjects

I Hadas-Halpern

Publications and source records attributed to I Hadas-Halpern.

42 records · Page 3Linked to original sources
PubMed1993

Low-dose high-frequency enzyme replacement therapy for very young children with severe Gaucher disease.

Six children with a mean age of 4.6 years (range 2.5-7), suffering from severe Gaucher disease, were treated with low-dose high-frequency intravenous enzyme replacement (Ceredase, Genzyme, U.S.A.) for a period of 10-24 months. Although, in general, these patients were more severely affected than previously reported patients, the results of the treatment were as satisfactory as those obtained by using much higher doses at low frequency. In addition to regression of organomegaly and improvement of haematological abnormalities, we observed two unique clinical responses in three patients: two showed decreased tendency to bacterial infections, associated with improvement in neutrophil chemotaxis, and one patient, with type 3 Gaucher disease, showed some improvement in neurological findings. Several measures were taken to ameliorate the burden of the high-frequency treatment. These included implantation of venous access devices, establishment of a home-treatment programme and the application of effective local anaesthesia. Therefore the low-dose high-frequency protocol appears to be both an effective and feasible alternative to the costly high-dose low-frequency protocols even in very young children.

Child↗
PubMed1993

Adult-type Gaucher disease in children: genetics, clinical features and enzyme replacement therapy.

Clinical manifestations of type 1 (Adult) Gaucher disease usually start in childhood. However, most of the previously published data describe the features of this disorder in adults. We present the clinical and genetic characteristics of 34 children and adolescents with type 1 Gaucher disease evaluated in our clinic during the past two years. Patients were aged 2-18 years; 18 were boys and 16 girls. The majority presented before the age of 10. Growth retardation appeared as a prominent feature, with 26% in or below the third percentile in weight, and 30% so in height, especially in the youngest age group (2-5 years). Anaemia and thrombocytopenia occurred in 80% and 60% of the children, respectively. Hepatosplenomegaly was noted in all the children; only 3 were splenectomized. Skeletal involvement was evident on X-rays in 90% of the patients, but only 50% complained of bone pains. Three patients had severe bone disease, with avascular necrosis of the hip joint. Mutation analysis at the DNA level revealed the 1226/1226 genotype in 12 (35%) patients and 1226/84GG in 13 (38%). Correlation was found between the genotypes and the severity of the disease, including growth retardation. A positive response was documented in all 9 patients who completed 12 months of the recently-introduced enzyme replacement therapy for Gaucher disease.

Adolescent↗
PubMedDate not supplied

Postpartum ovarian vein thrombophlebitis: sonographic diagnosis.

BACKGROUND: We describe our experience with sonographic diagnosis of ovarian vein thrombosis, an uncommon but dangerous postpartum complication. METHODS: We retrospectively reviewed the medical records of seven patients in our institution who developed postpartum ovarian vein thrombophlebitis within the past 5 years. RESULTS: In all cases the diagnosis was made by ultrasound, which showed tubular hypoechoic masses lateral to the great abdominal vessels. The postpartum ovarian vein thrombophlebitis was on the right side in six cases and on the left side in one. In five cases, it protruded into the inferior vena cava. The first three cases were referred to computed tomography after the sonographic diagnosis. In the last four cases, the diagnosis relied solely on sonography and no further evaluation was necessary. CONCLUSION: Sonographic examination can be diagnostic for ovarian vein thrombosis if performed very carefully in symptomatic postpartum patients.

Adult↗
PubMedDate not supplied

Familial Mediterranean fever: abdominal imaging findings in 139 patients and review of the literature.

BACKGROUND: The purpose of this study was to investigate the imaging findings in patients with familial Mediterranean fever (FMF) during and between acute attacks. METHODS: Computerized search of medical records from 1989 to 1998 identified 139 patients with a discharge diagnosis of FMF. Medical records, imaging studies, and pathologic findings were reviewed. RESULTS: Sixty-eight patients had a documented acute attack of FMF, and 71 patients known to have FMF were asymptomatic. Imaging was performed in 68 patients. Radiologic findings included ascites, splenomegaly, hepatomegaly, lymphadenopathy, focal peritonitis, peritoneal cysts, renal changes, and other incidental findings. CONCLUSIONS: Radiologic findings in symptomatic and asymptomatic FMF patients are not uncommon. Imaging in selected cases may facilitate diagnosis and show complications.

Abdomen↗
PubMedDate not supplied

Primary carcinoid tumor of the pancreas.

Serotonin-secreting (carcinoid) tumors of the pancreas are very rare. There are only 13 cases reported since 1963. Liver metastases have not previously been described. We present two patients with primary carcinoid tumor of the pancreas, which metastasized to the liver. These patients differ in their clinical and radiological appearance. Carcinoid tumor should be considered in the differential diagnosis of a pancreatic mass in a patient with carcinoid syndrome, but lack of this syndrome does not exclude the diagnosis.

Aged↗