First trimester prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with ultrasound.

Chondroectodermal dysplasia (Ellis-van Creveld syndrome) is an autosomal recessive condition characterized by short-limb dwarfism, postaxial polydactyly, ectodermal defects, and congenital heart disease. This condition is most prevalent in the Amish population of Lancaster, Pennsylvania, USA, occurring in 1/5000 births and in 1/60,000 births in the general population. This report presents a case of ultrasonographic detection of chondroectodermal dysplasia at 12 weeks of gestation.

Skeletal anomalies.

It is possible to identify many types of skeletal dysplasias and conditions involving limb deformities prenatally using ultrasound. It is likely that in the future, with the advancing technology and discoveries in molecular genetics, specific mutation analysis will become available for many of these conditions. This will make first trimester diagnosis an option in many cases. Because of the complex nature of many of these cases, it may be helpful to use a multidisciplinary approach involving a radiologist and a geneticist at times. In utero radiographs may help clarify a diagnosis. In lethal cases where a specific diagnosis has not been confirmed, it may be helpful postpartum to obtain an autopsy; photographs; complete body radiographs; karyotypic analysis; and specimens of bone, cartilage, and fetal blood for further analysis.

Accuracy of diagnosis of subtle chest disease and subtle fractures with a teleradiology system.

OBJECTIVE: This study compared conventional thoracic and skeletal radiographs with 12-bit digitized images of the same radiographs in terms of subjective image quality and accuracy of diagnosis of subtle disease. MATERIALS AND METHODS: Thirty-six chest radiographs with normal findings, 48 chest radiographs with abnormal findings, 29 skeletal radiographs with normal findings, and 26 skeletal radiographs with abnormal findings were included in this study. The images were chosen for the subtlety of their findings (nodules, pneumothoraces, interstitial lung disease, fractures). Each set of images was laser-digitized and viewed independently by three radiologists at a teleradiology workstation with a 1280 x 1024 pixel matrix monitor equipped with an eight-bit-per-pixel gray-scale display. All images were viewed at maximum resolution. After review of the digitized images for image quality and for the presence of abnormalities, each radiologist analyzed the analog images in a similar way. RESULTS: Sensitivities for detecting nodules, pneumothoraces, and interstitial lung disease on digitized chest radiographs were 58%, 75%, and 90%, respectively, compared with 62%, 79%, and 92%, respectively, on the original radiographs. Sensitivity for fracture detection on digitized bone radiographs was 87% compared with 88% on analog radiographs. None of these differences was statistically significant. CONCLUSION: Digitization of radiographs for primary diagnosis by teleradiology results in a slight decrease in sensitivity for detection of subtle abnormalities, provided that the images are viewed at maximum resolution.

Lumbosacral agenesis: clinical characteristics, imaging, and embryogenesis.

We report 5 cases of complete, or nearly complete, agenesis of the lumbar and sacral spine. In 1 case pregnancy was terminated at 23 weeks of gestation, and the others were livebirths. The surviving 4 patients were all infants of diabetic mothers. Imperforate anus was present in 2 of 4 liveborn patients and was suspected in the abortus. All liveborn cases were paraplegic, and all exhibited the 'Buddha' deformity of the lower extremities. One patient had congenital obstructive hydrocephalus, probably representing a variant of holoprosencephaly, requiring a ventriculoperitoneal shunt. No other nervous system anomaly was identified in any patient, and the other patients are showing normal cognitive development. We propose that these patients have defects which occurred during germ cell formation (i.e., during gastrulation), with interruption of the primitive streak resulting in combined failure of primary and secondary neurulation.

Radiologic evaluation of the intravenous oxygenator.

This report describes the radiologic appearance of the intravenous oxygenator (IVOX), an intracorporeal CO2-O2 exchanger for use in patients with severe respiratory deficiency, and the extensive radiographic and sonographic support required for its use. Six patients aged 19-39 years who had severe adult respiratory distress syndrome (ARDS) and who were not expected to survive were selected for IVOX placement; ARDS was caused by trauma (four patients), severe pneumonia (one patient), or a fat embolus from a tibial fracture (one patient). Before insertion of the IVOX, all patients underwent evaluation of their right internal jugular vein, right common femoral vein, and inferior vena cava with real-time ultrasound (US) to ascertain vascular size. The IVOX improved oxygenation in all patients; because of such improvement, one patient survived. Use of the IVOX may become common; hence, radiologists should understand how the IVOX functions and its appropriate placement, be able to identify it on chest and abdominal radiographs, and appreciate the importance of US in placement of this device and follow-up.

Reverberation reduction in ultrasonic B-mode images via dual frequency image subtraction.

The authors demonstrate the feasibility of an approach, dual-frequency subtraction imaging, for suppressing artifacts produced by reverberation of strong echoes among specular reflectors. This method is based upon the principle that specularly reflected echoes from flat boundaries are frequency-independent whereas the diffusely scattered echoes from small scatterers are frequency-dependent. The approach was assessed on phantoms including one consisting of two parallel plastic plates between layers of foam sponges using a prototype experimental system. Preliminary results show that this method is superior to simple thresholding techniques or signal compression and holds great promise for suppressing reverberation artifacts in ultrasonic images.

Clinical trials of an intravenous oxygenator in patients with adult respiratory distress syndrome.

In patients with severe adult respiratory distress syndrome, mechanical ventilation may not be able to ensure gas exchange sufficient to sustain life. We report the use of an intravenous oxygenator (IVOX) in five patients who were suffering from severe adult respiratory distress syndrome as a result of aspiration, fat embolism, or pneumonia. IVOX was used in an attempt to provide supplemental transfer of CO2 and O2 and thereby reduce O2 toxicity and barotrauma. All patients were tracheally intubated, sedated, and chemically paralyzed and had a PaO2 < 60 mmHg when the lungs were ventilated with an FIO2 = 1.0 and a positive end expiratory pressure of > or = 5 cmH2O. The right common femoral vein was located surgically, and the patient was systemically anticoagulated with heparin. A hollow introducer tube was inserted into the right common femoral vein, and the furled IVOX was passed into the inferior vena cava and advanced until the tip was in the lower portion of the superior vena cava. IVOX use ranged from 2 h to 4 days. In this group of patients, IVOX gas exchange ranged from 21 to 87 ml x min-1 of CO2 and from 28 to 85 ml x min-1 of O2. One of the five patients survived and was discharged from the hospital. The IVOX transferred up to 28% of metabolic gas-exchange requirements. One patient with a small vena cava showed signs of caval obstruction. Three other patients demonstrated signs of a septic syndrome after the device was inserted.(ABSTRACT TRUNCATED AT 250 WORDS)

Imaging of gallbladder variants.

A wide range of normal gallbladder variations are seen on gallbladder imaging. This essay illustrates the major variations that may be encountered, including anomalies in location, number, and form.

The efficacy of transrectal ultrasound and prostate cancer.

An increased interest in the diagnosis and treatment of prostate cancer, particularly in the last few years, is reflected in the literature. Numerous articles have been published since 1980 on the subject of imaging of the prostate gland. This article is a review of transrectal ultrasound and its efficacy in the diagnosis and treatment of prostate cancer. Included is a review of the normal prostate anatomy, typical and atypical sonographic features, clinical and radiographic staging of prostate cancer, efficacy of the digital rectal examination, role of ultrasound in prostate cancer screening, surgical treatment, and radiotherapy of prostate cancer.

Overview of clinical trials with urapidil.

Urapidil has been approved as sustained-release capsules containing 30, 60 and 90 mg, respectively, and as ampules containing 25 and 50 mg for treatment of all grades of hypertension, in several countries in Europe, South America, as well as in Japan and other Asian regions. In general, the treatment should start with 60 mg twice daily, 1 capsule in the morning and 1 in the evening. This schedule may be adapted according to the therapeutic needs. During the last few years, urapidil has been investigated extensively in comparison with several types of established antihypertensive drugs. Urapidil given orally has been tested in comparative trials against placebo, acebutolol, metoprolol, captopril, nifedipine and nitrendipine with responder rates of 40 to 70%. These responder rates are to be expected for a variety of antihypertensive drugs in monotherapy. Further studies with clonidine, prazosin and alpha-methyldopa showed similar responder rates as established for the other antihypertensive drugs studied. Adverse reactions include dizziness, headache and nausea and occasionally tiredness, orthostatic dysregulation and gastric disorders. These symptoms were transient, mostly occurring during the early phases of therapy and disappearing as treatment continued. Adverse effects are considered to be mainly due to blood pressure reduction. Intravenous comparative trials have been performed with urapidil against placebo, diazoxide and sodium nitroprusside. Adverse effects of parenterally applied urapidil are similar to those observed during oral treatment. Specific contraindications for urapidil are unknown. However, as for other vasodilating drugs, intravenous urapidil should not be administered to patients with stenosis of the aortic isthmus or with aortic valve insufficiency.

Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations.

We describe 2 sibs with Roberts-SC phocomelia syndrome. Although an ultrasound scan performed at 13 weeks of gestation failed to identify specific abnormalities, repeat scan at 17 weeks detected tetraphocomelia. Ultrasonography can reliably detect Roberts-SC phocomelia prenatally; however, serial scans may be needed. Postmortem examination of the proposita confirmed the sonographic findings and also disclosed dysplastic kidneys and ovarian dysgenesis. The degree of phenotypic variation observed between the sibs supports the hypothesis that Roberts syndrome and SC phocomelia represent a single genetic entity.

Benidipine hydrochloride--a new calcium-channel blocker of the dihydropyridine type. Pharmacokinetics, pharmacodynamics, tolerance and dose finding in mild to moderate hypertension.

(+/-)-(R*)-2,6-Dimethyl-4-(m-nitrophenyl)-1,4-dihydropyridine-3, 5-dicarboxylic acid (R*)-1-benzyl-3-piperidinyl ester, methyl ester hydrochloride (benidipine hydrochloride, KW-3049) is a newly synthetized calcium-channel blocker of the dihydropyridine type. In a phase I study with increasing single doses a statistically significant increase of the heart rate in supine and upright position as well as statistically significant decrease of the blood pressure in upright position was observed in healthy volunteers 1.5-6 h after application of 24 mg of KW-3049. Subsequently, in a placebo-controlled comparison in healthy volunteers the pulse rate in supine position increased statistically significantly on day 1 from 61.0 b/min (placebo) after application of 2 x 8 mg of KW-3049 to 67.4 b/min. After application of 2 x 10 mg of nifedipine the supine pulse rate increased to 63.3 b/min. The difference from placebo was not significant. At days 2-5 the pulse rate in upright position was always increased vs. placebo 3 h after application of KW-3049 and 1 h after application of nifedipine. As already observed in preclinical data, the mild onset of action with KW-3049 was also confirmed in these clinical phase I studies. Drug-induced effects on ergometric and psychomotoric parameters in healthy volunteers were mild, as expected, and due to aliquote dosages of 2 x 8 mg of KW-3049 and 2 x 10 mg of nifedipine only slightly different.(ABSTRACT TRUNCATED AT 250 WORDS)

Pharmacokinetics of mifentidine after single and multiple oral administration to healthy volunteers.

1. The pharmacokinetics of mifentidine, a new long acting histamine H2-receptor antagonist, were studied using two protocols. 2. In one study, on 5 different days six normal male subjects were given 2.5, 5, 10, or 20 mg mifentidine or placebo orally 60 min before starting a 3 h continuous gastric aspiration during which time blood samples were taken for measurement of mifentidine concentration. 3. The area under the curves of mifentidine plasma levels (AUC) vs time for the four doses was linearly related to the dose for each individual subject (r = 0.972, P less than 0.001). After doses of 2.5, 5, 10 and 20 mg, mifentidine reduced hydrogen ion output by respectively 36, 37, 60 and 75% and secretory volume by 1, 17, 40, and 47%. The effects at the two highest doses were statistically significant. AUC was correlated positively with the percentage reduction in hydrogen ion output (r = 0.802, P less than 0.001) and volume (r = 0.834, P less than 0.001) over a 3 h period. 4. In the second study, the pharmacokinetics were evaluated after once-daily treatment for 14 days in seven subjects given 10 mg and in seven others subjects given 20 mg. 5. After multiple dosing, renal clearance was similar for the two doses (11.6 +/- 2.11 l h-1 for the low dose and 17.0 +/- 2.0 l h-1 for the high dose). Plasma half-life (t1/2 lambda 2) was 16.0 +/- 3.0 h after the 10 mg dose and 11.9 +/- 1.2 h after 20 mg.(ABSTRACT TRUNCATED AT 250 WORDS)