A review of 240 patients undergoing distraction osteogenesis for congenital post-traumatic or postinfective lower limb length discrepancy.

BACKGROUND: We reviewed 281 lower limb lengthenings in 240 patients treated at three centers for congenital, post-traumatic, or postinfective limb length discrepancy (LLD) in the period 1984 to 1992. STUDY DESIGN: A retrospective review was done of hospital charts and radiographs of patients who had completed lengthening at least 12 months prior to the beginning of the study. The variables studied included patients' age at operation, the bone segment lengthened, whether a corticotomy or an osteotomy had been done, the amount of lengthening planned and achieved, the level(s) of corticotomy or osteotomy, the external fixator used, and the difficulties encountered. RESULTS: Limb length discrepancy was reduced within 2 cm (1.6 percent or lower) of the normal contralateral leg in 249 (89 percent) lengthenings in 208 patients. The average time spent with the fixator in situ was 186.4 days (range, 94 to 617 days), with an average healing index of 35.3 days per cm (range, 26 to 43 days per cm). Femoral osteotomies or corticotomies healed faster than tibial osteotomies or corticotomies. The healing index in post-traumatic and postinfective LLD was significantly lower than in congenital conditions. The younger patients showed a significantly decreased time to bone healing and fewer complications. CONCLUSIONS: A significantly greater number of difficulties were found in patients whose lengthening exceeded 18 percent of the original length of bone. Bifocal lengthenings healed significantly faster than single level ones. The three external fixators used were equally effective for lengthenings of less than 20 percent. The Ilizarov and the Monticelli-Spinelli circular fixators were associated with a significantly decreased number of complications when lengthenings above 20 percent were performed.

Antenatal sonographic diagnosis of clubfoot: a six-year experience.

In the period 1988 through 1993, 6351 pregnant women were referred to the Department of Obstetrics and Gynaecology, University "La Sapienza", Roma, for suspected fetal anomalies or maternofetal problems. All underwent serial transabdominal and/or transvaginal ultrasound scanning, which revealed a total of 235 fetuses with hydrocephalus, cardiac, or musculoskeletal malformations. Forty-one clubfeet were detected in 27 pregnancies in the early part of the second trimester of pregnancy. Of these, 14 feet in eight patients were isolated, and were classified as idiopathic. A clubfoot was associated with neural tube defects in six patients, with anomalies of the urinary and/or digestive system in a further six, with a cystic hygroma in two, and with other musculoskeletal abnormalities in the other six patients. Amniocentesis revealed an abnormal karyotype in six fetuses (22.2%). In only two cases was oligohydramnios present. In both these patients, a fetal urinary tract malformation was present Polyhydramnios was found in 18 cases, and a normal amount of amniotic fluid was found in the remaining seven cases. Polyhydramnios was present in six of the eight idiopathic clubfoot fetuses. Clubfoot is associated with musculoskeletal and visceral anomalies in a high proportion of cases. The association of clubfoot with polyhydramnios in a high proportion of cases does not support the hypothesis of intrauterine moulding as an etiological factor in its development. Ultrasonographical prenatal detection of a clubfoot should prompt amniocentesis, as the condition is associated with an abnormal karyotype in a significant proportion of cases.

High resolution real time ultrasonography in antenatal diagnosis of skeletal anomalies.

Two protocols were used for the ultrasonographic antenatal diagnosis of skeletal anomalies. The first was less selective and was used in pregnancies with a low risk of skeletal malformations. The second was applied to higher risk pregnancies. Both involved several ultrasound examinations, according to the patient's past medical history. In the period 1988 to 1993, 740 pregnant women in whom fetal malformations were suspected underwent serial ultrasound scanning. In 56 (7.5%), a skeletal anomaly was identified. The use of two protocols offers wide applicability and acceptable reliability in screening congenital skeletal problems in the fetus.

[Dyggve-Melchior-Clausen syndrome: description of 2 further cases]. / La sindrome di Dyggve-Melchior-Clausen: descrizione di due nuovi casi clinici.

In this paper we describe the clinical and radiographic features of a spondylo-epi-methaphyseal dysplasia. Dyggve-Melchior-Clausen syndrome. In these two new cases, without severe mental retardation, we have highlighted the clinical and radiological findings, progression of the skeletal changes that have allowed us to make a diagnosis.

[Nonspecific osteomyelitis in childhood and adolescence. The contribution of imaging diagnosis]. / Osteomieliti aspecifiche dell'infanzia e dell'adolescenza. Contributo della diagnostica per immagini.

Nonspecific osteomyelitis in children and adolescents can be diagnosed in patients 2 to 16 years old and may present as acute, subacute or chronic. During the last 9 years, 40 pediatric patients (aged 2 to 16 years) affected with extra-axial inflammatory bone lesions were examined. The series of cases was then reviewed. This work was aimed at investigating the role of various imaging modalities: conventional radiology (CR), bone scan with technetium-99 methylene diphosphonate (99mTc-MDP), scintigraphy with technetium-esamethylpropylenaminoxima labelled leukocytes (99mTc-HMPAO), computed tomography (CT) and magnetic resonance imaging (MRI) were used to detect the lesions, to make a differential diagnosis and to assess different disease stages. As for acute osteomyelitis (6 patients), CR showed a lytic lesion, periosteal new bone and soft tissue swelling in 4/6 patients; no abnormalities were demonstrated in the other two. Bone scan, CT and MRI depicted bone involvement. CT and MRI also showed inflammatory lesion spread to surrounding soft tissue. 99mTc-HMPAO scintigraphy was not performed in acute osteomyelitis, because of technical difficulties in performing the exam promptly; thus, the early diagnosis of lesion nature was made with bone biopsy. As for subacute osteomyelitis (23 patients), 99mTc-HMPAO scintigraphy was performed in 8/23 patients and proved to be a highly sensitive method, showing cell clusters and confirming the diagnosis of inflammatory lesion. MRI showed a focal area of intermediate-low signal intensity on T1-weighted sequences, with small focal intralesional areas of low intensity, a low-signal perifocal rim and diffusely low signal of surrounding bone marrow. T2-weighted images showed high signal intensity in both the abscess lesion and bone marrow, the latter probably due to edema. In 5 patients, a paramagnetic contrast agent (Gd-DTPA) was administered during MRI and showed inhomogeneous enhancement of both the inflammatory lesion and surrounding bone marrow. As for chronic osteomyelitis (7 patients), MRI was performed in 5/7 patients. In 4 patients the lesion appeared as a low-signal area on T1-weighted images while T2-weighted images showed an inhomogeneous high-signal area. In the same patients, 99mTc-HMPAO scintigraphy was always positive. In patient 5, the lesion was represented by a low-signal area on both T1 and T2-weighted images, while 99mTc-HMPAO was negative. Therefore, in chronic osteomyelitis, both MRI and 99mTc-HMPAO were useful in detecting both spinal and peripheral bone involvement, which was in some cases asymptomatic at first observation CR, CT (3/4) and MR (4/4) findings extra-axial localizations were similar to those in subacute-chronic forms.

Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV.

We present a female patient with the oral-facial-digital syndrome type IV. Our report, the tenth in the literature, describes the typical manifestations of the syndrome, combined with malformations and deformations which have not always been described in the previously reported cases. They include cerebral and renal anomalies, anal atresia and dislocation of elbows and knees.

Characteristics of the beta-adrenergic receptor complex in the epicardial border zone of the 5-day infarcted canine heart.

BACKGROUND: The effect of isoproterenol on increasing the peak amplitude of the L-type calcium current is reduced in myocytes dispersed from the epicardial border zone (EBZ) of the 5-day infarcted canine heart when compared with control cells from noninfarcted hearts. This suggests that specific alterations in the beta-adrenergic receptor complex develop in this setting. The present study is an examination of individual components of the beta-adrenergic receptor complex with the aim of elucidating the biochemical defect(s) that might be responsible for the diminished beta-adrenergic receptor responsiveness in the myocytes that survive in the infarcted heart. METHODS AND RESULTS: We compared components of the beta-adrenergic receptor signaling pathway in membranes prepared from the EBZ of the 5-day infarcted heart and a remote, noninfarcted region (RZ) of the same ventricle as well as the corresponding regions of noninfarcted ventricles. Defects in multiple components of the beta-adrenergic receptor complex were confined to the EBZ of the 5-day infarcted heart. These include a decrease in beta-adrenergic receptor density; diminished basal, guanine nucleotide-, isoproterenol-, forskolin-, and manganese-dependent adenylyl cyclase activities; an increase in the EC50 for isoproterenol-dependent activation of adenylyl cyclase; a diminished level of the alpha-subunit of the Gs protein. and an elevated level of the alpha-subunit of the Gi protein. CONCLUSIONS: Defects in multiple components of the membrane beta-adrenergic receptor complex were identified in the EBZ of the 5-day infarcted canine heart. This constellation of abnormalities would be predicted to impair functional beta-adrenergic responsiveness and contribute to the defect in isoproterenol-dependent stimulation of the L-type calcium current in myocytes isolated from this tissue.

Anatomy of the lumbar spine in achondroplasia.

The authors analyze the achondroplastic lumbar spine in the pre-puberal and post-puberal periods until adulthood by means of standard X-rays, CT scan, MRI, and myelography. The small spinal canal in achondroplasts must be considered the result of developmental and congenital conditions. Orthopaedic and surgical possibilities are reviewed with the goal of reducing to a minimum the developmental factors.

Long term effects of cryoapheresis and cytostatic treatment in essential mixed cryoglobulinemia.

We studied the effects of cryoapheresis combined with different immunosuppressive treatments on the course of the glomerulonephritis of essential mixed cryoglobulinemia. The study was carried out on 11 patients. The effects of immunosuppressive treatments on cryoglobulin rebound after cryoapheresis varied widely. In those responding with sustained reduction in serum cryoglobulin levels, creatinine clearance increased, an effect that lasted several years in 4 patients. In one patient cryoglobulin disappeared, with almost fully recovery of renal function and normalization of blood pressure. One patient died of acute liver failure shortly after the first observation and another entered regular dialysis treatment. All the other patients are still alive after follow-up of 2-9 years. These results compare favourably with those reported by other investigators and suggest that cryoapheresis and cytostatic drugs are beneficial for glomerulonephritis associated with essential mixed cryoglobulinemia.