An MRI scale for assessment of haemophilic arthropathy from the International Prophylaxis Study Group.

Evaluation of prophylactic treatment of haemophilia requires sensitive methods. To design and test a new magnetic resonance imaging (MRI) scale for haemophilic arthropathy, two scales of a combined MRI scoring scheme were merged into a single scale which includes soft tissue and osteochondral subscores. Sixty-one joint MRI's of 46 patients with haemophilia were evaluated by four radiologists using the new and older scales. Forty-six of the joints were evaluated using two X-ray scales. For all MRI scores, interreader agreement and correlations with X-ray scores and lifetime number of haemarthroses were analysed. The interreader agreement intraclass correlation coefficient was 0.82, 0.89 and 0.88 for the soft tissue and osteochondral subscores and the total score, as evaluated according to the new MRI scale, compared to 0.80 and 0.89 as for the older scales. The total score and osteochondral subscore according to the new scale, as well as scores according to the older scales were correlated (P < 0.01) with number of haemarthroses (Spearman correlation 0.35-0.68) and with the X-ray scores (Spearman correlation 0.40-0.76), but no correlation (P > 0.05) was found between the soft tissue subscore of the new MRI scale and the X-ray scores. The new MRI scale is simpler to apply than the older and has similar reader reliability and correlation with lifetime number of haemarthroses, and by separating soft tissue and osteochondral changes it gives additional information. The new scale is useful for analyses of early and moderate stages of arthropathy, and may help to evaluate prophylactic haemophilia treatment.

Combined thrombolytic and anticoagulant therapy for venous thrombosis in children.

OBJECTIVES: To evaluate safety, efficacy, and outcome after combination thrombolytic and anticoagulant therapy. STUDY DESIGN: An open nonrandomized clinical protocol with prospective standardized monitoring and data collection. Children with a documented first episode of deep vein thrombosis were treated with urokinase 4400 U/kg load and per hour with unfractionated heparin at 10 U/kg/h. At 48 hours heparin infusions were increased to achieve a therapeutic level for 5 days. Children were given therapeutic warfarin for at least 3 months. Outcome was assessed at 48 hours and > or =1 year with history, physical examination, high-resolution imaging, and Doppler ultrasonography +/- impedance and photo plethysmography. RESULTS: Thirty-two children were treated. There was 1 thrombotic death, 1 nonfatal thrombus progression, and 1 pulmonary embolism. At 48 hours half of the children showed substantial clot lysis, and on follow-up these children had complete resolution and had no symptoms. Three children with poor early clot lysis had recurrent thromboemboli, pulmonary embolism, or both, 2 had limb pain and swelling, and 2 had asymptomatic swelling. Two children had minor bleeding, whereas systemic reactions were common. CONCLUSIONS: Combination therapy in children (urokinase and unfractionated heparin) was safe and efficacious. A prospective, randomized, controlled study in children is needed.

Utility of ultrasonography in the diagnosis of autosomal dominant polycystic kidney disease in children.

To determine the utility of ultrasonography (US) in diagnosing autosomal dominant polycystic kidney disease (ADPKD) in children, this study examined 106 children who were at 50% risk for the disease. The children underwent a history, physical examination, abdominal US, and gene linkage analysis (GLA) with tightly linked markers for ADPKD1 and ADPKD2 genes. Only ADPKD1 children were studied. A child was considered affected by US if any cysts were detected and affected by GLA if he or she shared the same haplotype as the affected parent. Forty-two children (40%) were considered to be unaffected by both GLA and US. Forty-eight children (45%) were considered affected by both modalities. Only two of these children had a single cyst. Fourteen children (13%) were considered affected by GLA with normal initial US. These children tended to have larger kidneys than children who were unaffected by GLA. Eight of these 14 children had subsequent positive ultrasonograms. Two children had a positive ultrasonogram with GLA showing them to be unaffected; in one of these children, a subsequent ultrasonogram was interpreted to be normal with a medullary pyramid. Thus, overall the false negative rate was 25%, and the false positive rate was 2%. The false negative rate was highest in the children who were 3 months to 5 years of age (38%). Clinicians must understand the utility of US in diagnosing ADPKD in at-risk children and must not interpret a normal study as absence of disease in this population.

Night call in U.S. radiology residency programs.

RATIONALE AND OBJECTIVES: We acquired information about resident call in radiology programs throughout the United States to allow programs to compare themselves with others and to learn of possible alternate approaches to similar clinical and educational needs. METHODS: A 30-question survey was mailed to the program directors of all accredited U.S. radiology residency programs. A second mailing was sent to program directors who did not respond within 3 months. The survey addressed questions of the timing of call during residency training, the frequency of call, the nature of the call experience, and the relation to fellow and faculty call. Questions regarding available technical assistance, resident clinical activities postcall, faculty review of oncall studies, and other relevant issues were included. RESULTS: One hundred sixty-six of 206 (81%) of the program directors responded. The amount and type of call taken by radiology residents was highly variable in different programs. The mean number of in-house call days per month was 2.9 (SD = 2.6), 3.3 (SD = 2.2), 2.4 (SD = 1.9), and 1.3 (SD = 1.6) for first-, second-, third-, and fourth-year residents, respectively. The nature of technical and fellow/faculty assistance available to the resident was also variable. CONCLUSION: Night call in U.S. radiology residency programs is variable but tends to be concentrated in the second year of residency. Fourth-year residents take less call than other residents, especially close to the time of the written and oral board examinations. Although program directors were satisfied with many aspects of their call systems, most indicated at least one major change they would like to make.

The spectrum of autosomal dominant polycystic kidney disease in children.

The natural history of autosomal dominant polycystic kidney disease (ADPKD) has not been well described in children, and it is not known whether a relationship exists between renal structural abnormalities and function in children as has been seen in adults. Therefore, 140 children from 67 ADPKD families were studied in a prospective study. Only 22 children came with a previous diagnosis of ADPKD. In 44% of all children, at least one cyst was found on ultrasound at a mean age of 8.7 yr. Of these, 60% were classified as having moderate disease on the basis of a total cyst number of 1 to 10 cysts, whereas 40% were considered to have severe disease with a total of more than 10 cysts. There was a significant relationship between the severity of the renal structural involvement and the frequency of flank and back pain, hypertension, and impaired renal concentrating capacity. However, GFR were not reduced in children with ADPKD and did not relate to structural severity. Thirty-nine children were seen for a follow-up visit 2 to 5 yr after the initial visit. No child had progressed from nonaffected to affected with ADPKD, but three of four children with only one cyst at the time of the initial study had progressed to bilateral cysts. Among the 22 ADPKD children who had a follow-up study, there was progression of the disease, reflected by an increase in cyst number and an increase in the frequency of pain and hypertension. However, GFR remained stable in all children.(ABSTRACT TRUNCATED AT 250 WORDS)

Characteristics of very early onset autosomal dominant polycystic kidney disease.

Eleven children from eight families with autosomal dominant polycystic kidney disease who were diagnosed in utero (6 children) or in the first year of life (5 children) are reported here. Four children were evaluated for symptoms and three because of a sibling with very early onset disease. In three children, abnormal kidneys were found incidentally on a pregnancy screening ultrasound, and in only one child, the diagnosis was made by an ultrasound specifically directed at detecting polycystic kidney disease. Females were disproportionately represented among both the affected parents and offspring. Eight of the children were girls, and all affected parents were mothers. In three families, the parent's diagnosis was established only after the birth of the affected child. In two of these and in one other family, the mother's disease appeared to be the result of a new mutation. The most consistent renal ultrasonographic findings in the children were enlargement and increased echogenicity. On follow-up over 3 to 15 yr (mean, 6.8 yr) two children had ESRD and eight children had normal or nearly normal renal function as assessed by creatinine clearance. Renal concentrating ability was reduced in four children in whom it was measured. All children had bilateral renal cysts on follow-up, and nine children were hypertensive. Possible risk factors for early-onset disease identified in this study were an affected mother, an affected sibling, and an apparent parental new mutation. Symptoms and complications occurred frequently, but outcome was better than reported previously.

Risk factors for the development of hepatic cysts in autosomal dominant polycystic kidney disease.

Hepatic cysts are a major manifestation of autosomal dominant polycystic kidney disease. This study examined 239 autosomal dominant polycystic kidney disease patients and 189 unaffected family members to define the factors that influence the presence and severity of hepatic cysts. Autosomal dominant polycystic kidney disease patients with hepatic cysts were older than autosomal dominant polycystic kidney disease patients without such cysts (44.6 +/- 1.1 yr vs. 32.9 +/- 1.1 yr; p less than 0.0001). The number of hepatic cysts increased with age (r = 0.43; p less than 0.0001). Women were more likely to have massive hepatic cystic disease (greater than 15 cysts) than men (p less than 0.04). Women also had larger maximal cyst size (4.2 +/- 0.4 cm vs. 2.7 +/- 0.3 cm; p less than 0.004). Women with hepatic cysts were more likely to have been pregnant (p less than 0.001) and to have had more pregnancies (2.9 +/- 0.3 pregnancies vs. 1.6 +/- 0.2 pregnancies; p less than 0.0009). Kidney volume (p less than 0.0001), number of cysts (p less than 0.004), percentage of cystic parenchyma (p less than 0.001) and predominant cyst size (p less than 0.001) were greater and creatinine clearance was lower (64.5 +/- 3.1 ml/min/1.73 m2 vs. 94.5 +/- 3.4 ml/min/1.73 m2; p less than 0.001) in autosomal dominant polycystic kidney disease patients with hepatic cysts. By logistic regression, the frequency of hepatic cysts was related to increased age, increased severity of renal cystic disease and decreased creatinine clearance. Number and size of hepatic cysts correlated with the occurrence of pregnancy, female gender, increased age and severity of the renal lesion.(ABSTRACT TRUNCATED AT 250 WORDS)

Absolute intracranial blood-flow velocities evaluated by duplex Doppler sonography in asymptomatic preterm and term neonates.

Thirty-eight asymptomatic preterm and term neonates were studied with pulsed Doppler sonography to assess absolute (true) intracranial blood-flow velocities. The middle and posterior cerebral arteries were evaluated by a transcranial approach, and the anterior cerebral artery was evaluated via the anterior fontanelle. Intracranial velocities were seen to increase with increasing gestational age and with increasing age of the neonate. The rate of increase in velocity was greater with higher gestational age. Middle cerebral artery velocities were greater than anterior cerebral velocities. Likewise, antegrade diastolic flow was always seen in these normal neonates. Intracranial velocities increased with gestational age and with increasing age of the child; the resistive index decreased progressively with age.

Posterior urethral obstruction. Prenatal sonographic findings and clinical outcome in fourteen cases.

Fourteen cases of fetal urethral obstruction were reviewed retrospectively. The purpose of this study was to emphasize the following: 1) prenatal sonographic findings: 2) clinical outcome: and 3) associated congenital anomalies. Decreased amniotic fluid volume complicated 12 pregnancies (86%). A dilated posterior urethra was identified in nine fetuses (64%) and an enlarged bladder in 13 (93%). Evaluation of the fetal kidneys revealed hydronephrosis in 81%, increased parenchymal echogenicity in 73% and macroscopic renal cysts in 15%. There were seven live births, but only two neonates survived beyond 5 weeks. Pulmonary hypoplasia contributed to the five postnatal deaths. Associated congenital anomalies were noted at autopsy in six cases.

Accuracy of ultrasound diagnoses in pregnancies complicated by suspected fetal anomalies.

Referral of pregnancies complicated by suspected fetal anomalies to level III perinatal centres for further evaluation and management is increasing as use of real-time ultrasound spreads, but the sensitivity and specificity of the prenatal diagnoses made in this population are unknown. We undertook a prospective study that followed pregnancies referred to a designated programme dealing with suspected fetal abnormalities. Follow-up of 257 pregnancies revealed that 282 separate anomalies were accurately diagnosed in 212 cases. Normal anatomy was correctly predicted in 42 cases, 16 per cent of the referred population. False-positive and false-negative rates were 1.5 per cent (4/257) and 2 per cent (1/46), respectively. However, 37 per cent of those infants born with anomalies had additional problems not prenatally detected by ultrasound. These results indicate that prenatal ultrasound diagnoses are remarkably accurate overall but that they may be insensitive to associated anomalies in individual cases.

Tracheoesophageal fistula in utero. Twenty-two cases.

A retrospective review of 22 infants born with tracheoesophageal fistula (TEF) with in utero sonograms was performed and the literature was reviewed. TEF or esophageal atresia should be considered when there is polyhydramnios and an absent fluid-filled stomach; these findings were seen in 32% of our cases. Amniotic fluid flows freely through some TEFs, resulting in a normal amount of amniotic fluid and a fluid filled stomach (six of 22 patients), while in other cases, the fluid does not traverse the fistula easily and polyhydramnios results. Polyhydramnios was present in 62% of our cases and was the most common sonographic finding. The earliest age at which polyhydramnios was diagnosed was 24 weeks. Sonography will detect approximately one third of fetuses with TEF; an improved outcome is expected in these fetuses.

Kleeblattschadel anomaly. In utero sonographic appearance.

Four cases of Kleeblattschadel demonstrated on prenatal ultrasound examinations are reported. Five additional cases from the literature are reviewed. Sonographic features include enlarged trilobed skull, hydrocephalus, polyhydramnios, and frequent association with thanatophoric dwarfism. The most common error in diagnosis was misinterpretation of this skull anomaly as encephalocele.

Diagnosis of autosomal dominant polycystic kidney disease in utero and in the young infant.

Autosomal dominant polycystic kidney disease (ADPKD), once thought to be a disease of the adult, is now being reported with increasing frequency in childhood. We report five cases and review eight cases from the literature of ADPKD diagnosed in the fetus or the young infant by sonographic evaluation and a positive family history. Renal enlargement (85%) was the most common and most helpful sonographic finding. Approximately 50% of the patients already had cysts large enough to detect by ultrasound. Increased renal echogenicity was present in nine of 10 cases. Although every case in this review had one parent affected with ADPKD, only five of 13 (38%) were aware of their disease prior to their pregnancy. Renal cystic disease diagnosed in the fetus and young infant should trigger an investigation of the family history and sonographic screening.

Ultrasonographic diagnosis of infected lymphocele after kidney transplantation.

Lymphoceles after kidney transplantation are usually not infected and are drained into the peritoneal cavity, if their size requires treatment. Infected lymphoceles should be drained externally rather intraperitoneally, to avoid peritonitis. Ultrasonographic examinations of 2 febrile patients identified complex echoes that were correctly interpreted as infection within lymphoceles. The ultrasonographic diagnosis of infected lymphocele facilitates early and appropriate operative treatment.

Severe polyhydramnios: incidence of anomalies.

The sonograms of 195 singleton pregnancies complicated by polyhydramnios were reviewed, and follow-up information was obtained on 191 patients. A grading system was developed that differentiated mild from severe polyhydramnios using real-time or static sonographic equipment. Mild polyhydramnios was present in 138 (71%), and severe polyhydramnios was present in 57 (29%). Previously it has been reported that 60% of cases of polyhydramnios are idiopathic and the pregnancies have a normal outcome. Twenty percent are associated with maternal abnormalities and 20% are associated with fetal anomalies. In this study, pregnancies with severe polyhydramnios had a much greater prevalence of fetal anomalies (75%) than pregnancies with mild polyhydramnios (29%). The 57 singleton pregnancies with severe polyhydramnios were analyzed in depth. Fourteen (25%) of the fetuses were normal; 43 (75%) had significant congenital abnormalities that predominantly involved the CNS, gastrointestinal tract, heart, and genitourinary tract. In all fetuses with primary CNS abnormalities, polyhydramnios was diagnosed at or before 30 weeks of gestation, while in most of the fetuses (83%) with gastrointestinal abnormalities it was diagnosed after 30 weeks. Sonographic findings correlated closely with the findings noted at birth or autopsy. In patients with severe polyhydramnios, normal sonograms were sensitive in excluding major congenital anomalies and, thus, were helpful in providing the parents with favorable prognoses. Sonograms should be performed in patients with polyhydramnios to identify congenital anomalies and to provide information regarding prognosis for fetal outcome.