A method for rapid prenatal diagnosis of glycogenosis II (Pompe's disease)

A method is described enabling prenatal diagnosis of glycogenosis II (Pompe's disease) within 7–10 days after amniocentesis in the 14th–16th week of pregnancy. The procedure is based on amniotic fluid cell cultivation on thin plastic foil, freezing and freeze-drying of the cells and subsequent microdissection of pieces of plastic foil each containing 70–250 lyophilized cells. These are incubated in microliter volumes of substrate. The extinction or fluorescence values are measured in microcuvettes adapted to a normal spectrofluorometer or in microcapillaries using a microscope spectrofluorometer design. The methods developed are compared with conventional biochemical analyses.     

Pulse Cyclophosphamide for Severe Neuropsychiatric Lupus

We Studied the effect of parenteral pulse cyclophosphamide therapyin nine patients with active systemic lupus erythematosus andsevere central nervous system involvement. Seven patients hadfocal neurological deficits and/or seizures associated withabnormalities on cerebrospinal fluid analysis and/or magneticresonance imaging. Two patients had organic brain syndrome withpsychosis and normal cerebrospinal fluid and/or magnetic resonanceimaging analysis. Six patients were unresponsive to treatmentwith high dose corticosteroid. Cyclophosphamide 0.75–1.0g/m² body surface area, was administered intravenously everymonth for at least 2 months. Eight patients had a complete recoveryor recovered with minor residuals. Cyclophosphamide was welltolerated with few side effects. We conclude that parenteralpulse cyclophosphamide is an effective adjunctive therapy forthe management of patients with active systemic lupus erythematosusand central nervous system symptoms.     

Skeletal metastases from hepatoma: frequency, distribution, and radiographic features

Over the past 6 years, the authors evaluated 300 patients with hepatoma as part of phase 1 and 2 treatment protocol trials. Analysis of the available clinical data and radiographic studies revealed 22 patients (7.3%) with skeletal metastases demonstrated by radiography, computed tomography (CT), and/or nuclear scintigraphy. The plain film appearance of skeletal metastases from hepatoma was osteolytic in all cases. CT scanning best demonstrated the expansile, destructive nature of these metastases, which were often associated with large, bulky soft-tissue masses. Skeletal metastases from hepatomas demonstrated increased radiotracer uptake on standard bone scans and were gallium avid, similar to the hepatoma itself. In addition, they could be targeted therapeutically with I-131 antiferritin immunoglobulin. The most frequent sites of skeletal metastases were the ribs, spine, femur, pelvis, and humerus. An initial symptom in ten patients was skeletal pain corresponding to the osseous metastases. In five patients, pathologic fractures of the proximal femur or humerus developed and required total hip replacement or open-reduction internal fixation. Patients with long-standing cirrhosis or known hepatocellular carcinoma who also have skeletal symptoms should be evaluated for possible osseous metastases.     

Inferior vena caval filters: noninvasive evaluation

Transvenous inferior vena caval filters were placed in 32 patients (21 bird's nest [BN] and 11 Kimray-Greenfield [K-G] filters). Positive contrast cavography was performed before and immediately after filter placement as well as during long-term follow-up studies. In 23 patients, computed tomographic (CT) scanning was also performed; in 10 patients, real-time ultrasound (US) study was used as an adjunct. CT scans of the BN filter showed one case of hemorrhage and one case of air embolism, both of which were not recognized at cavography. CT scanning of the K-G filter demonstrated two cases of deep penetration of the prongs and one large retroperitoneal hematoma. Real-time US scanning played a major role in checking the final position of the filter and in determining its stability during repositioning of the upper prongs of one BN filter. Noninvasive examinations, including CT and US scanning, are valuable adjuncts in immediate and long-term follow-up study of patients with inferior vena caval filters.     

Ovary volume in young and premenopausal adults: US determination. Work in progress

Normal adult ovary volume determined by ultrasonography (US) is often stated to be less than 6 cm3. This is based on data from teenagers and young adults aged 12-20 years. Recently, the mean normal volume determined by US was reported to be considerably higher. We measured the volumes of 28 ovaries from 15 healthy young adults and found them to range as high as 13.84 cm3, with an average of 6.48 cm3.     

Transient hypertension after percutaneous transluminal renal artery angioplasty

A retrospective analysis of 128 technically successful percutaneous transluminal renal angioplasty (PTRA) procedures was performed. After the procedures, transient systemic hypertension (TSH) developed in 39 patients. The phenomenon usually occurred within 30 minutes of balloon dilation and always within 2 hours of PTRA. TSH lasted less than 5 hours in 35 patients and never persisted for more than 24 hours. TSH is a self-limiting process and should not be confused with the more sustained hypertension that arises from a complication of balloon angioplasty.