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Biomedical subjects

J Masel

Publications and source records attributed to J Masel.

At least 37 records · Page 2Linked to original sources
PubMed1996

Coexistent orbital and cerebellar venous anomalies in linear sebaceous naevus syndrome.

BACKGROUND: Orbital venous anomalies can result in significant morbidity and have been reported in association with other venous anomalies, some with the potential for serious complication. METHODS/RESULTS: We present a case of an orbital venous anomaly coexistent with a large cerebellar venous angioma and a linear sebaceous naevus. Clinical features, associations, complications and management principles are presented. CONCLUSION: Upon clinical recognition of an orbital venous anomaly, brain imaging and appropriate clinical assessment should be considered in light of the possibility of coexistence of potentially life-threatening lesions.

Brain Neoplasms↗
PubMed1995

Case report: neonatal platyspondylic dwarfism--a new form.

A new type of neonatal bone dysplasia is reported. Unusual radiographic abnormalities (platyspondyly with unique shape of the vertebral bodies, shortening of the long tubular bones without signs of rickets or metaphyseal dysplasia, marked shortening of well-ossified short tubular bones, schneckenbecken-like pelvis with tri-radiate acetabulum, pseudoepiphysis of the right ulna, unusual shape of calcaneus and periarticular calcifications) allow designation of this disorder as a new form of neonatal dwarfism.

Abnormalities, Multiple↗
PubMed1993

Microcephalic, osteodysplastic, primordial dwarfism.

A case of microcephalic, osteodysplastic, primordial dwarfism (cephaloskeletal dysplasia of Taybi and Linder) is reported. This rare disease is characterised by unique clinical appearances and diagnostic radiographic findings. It is also associated with distinctive brain abnormalities. The latter include micrencephaly, lissencephaly, corpus callosum aplasia/agenesis and unusual histological brain abnormalities.

Abnormalities, Multiple↗
PubMed1992

Cystic encephalomalacia and intrauterine herpes simplex virus infection.

Cystic encephalomalacia occurred in two preterm infants who had proven intrauterine herpes simplex virus type 2 infection. Calcification was evident in the basal ganglia. Follow-up scans indicated that the cysts had resolved over a period of two months in one infant, while in the case of the other, the cysts became progressively larger with significant ventricular dilatation developing. While cystic changes in the brain of preterm infants are usually due to periventricular leukomalacia, intrauterine infection needs to be considered as a possible cause. Antiviral treatment may be of benefit to infants with herpes simplex virus infection.

Brain Diseases↗
PubMed1991

Rare primary cranial vault and base of the skull tumors in children. Report of 30 cases with a short literature review.

Twenty-six cases of rare primary cranial vault tumors are reported, together with 4 cases of primary tumors of the base of the skull and 3 cases of monostotic cranial neuroblastoma. Whereas some rare primary cranial vault tumors may present with characteristic radiographic patterns (e.g. hemangioma, aneurysmal bone cyst, osteoma, progonoma), most of them can be recognised only after histology. The most frequent tumor in the region of previous irradiation is osteosarcoma. The only "common" primary bone tumor of the base of the skull is chordoma. The radiological differential diagnosis of primary tumors of the skull vault and base is discussed.

Adolescent↗
PubMed1990

Primary sacral bone tumours in children (report of 16 cases with a short literature review).

16 cases of primary sacral bone tumours in children are reported. These include 13 patients with Ewing's sarcoma and 3 with very rare primary sacral bone tumours in childhood--chordoma, haemangiopericytoma and osteoblastoma. All sacral bone tumours, with the exception of Ewing's sarcoma are very rare in childhood. The possibility of a sacral tumour should be considered in a child with radiculopathy. CT and MR make the diagnosis of primary sacral bone tumours much easier with the added possibility of recognition of the true nature of the lesion in many instances. Reports of primary sacral bone tumours in children are scarce. Most of the patients are incorporated in adult series which do not specify the age of the child and the site of the tumour. The purpose of this paper is to describe 16 children with primary sacral bone tumours.

Child↗
PubMed1989

A spectrum of skeletal anomalies associated with pulmonary agenesis: possible neural crest injuries.

Six cases of unilateral pulmonary agenesis with skeletal and other deformities have been diagnosed in our hospitals. The various pulmonary, spinal, rib and limb anomalies with their possible inter-relationships were examined and described in detail and comparison with previously reported cases was made. It became apparent that the limb abnormalities which most constantly involved hypoplasia of the phalanges of a thumb with varying metacarpal and radial anomalies, were ipsilateral to the pulmonary agenesis in all cases. The spinal deformities involved degrees of failure of segementation of T1-T3 with other vertebrae randomly involved. Rib abnormalities also varied and did not necessarily correspond to the same side as the pulmonary agenesis. The concept of the anomalies all being part of a group of neural crest injuries was then explored.

Abnormalities, Multiple↗
PubMed1989

Congenital cystic adenomatoid malformation of the lung. Presentation of 16 cases.

Congenital cystic adenomatoid malformation (CCAM) of the lung is one of the rarest causes of neonatal distress. The principal radiological sign of CCAM is an intrapulmonary mass of soft tissue density, containing cystic areas of different sizes and shapes. The mass usually compresses the rest of the affected lung and displaces the mediastinum and heart to the opposite side, compressing the lung which is often therefore hypoplastic. If CCAM is diagnosed in utero by ultrasound, the treatment of choice is surgery as soon as possible after birth, with good survival rates. Sixteen cases of CCAM are presented, one with bilateral disease, diagnosed at different times, and one with an associated prune belly syndrome, to be added to the 405 already reported in the literature, and their clinical, radiological and pathological features are described.

Diagnosis, Differential↗
PubMed1989

Neonatal cranial ultrasonography as predictor of 2 year outcome of very low birthweight infants.

Real time ultrasound scans using an ATL 300C sector scanner with 5-7.5 MHz transducer were performed on days 1, 4, 7 and thereafter as clinically necessary on 153 consecutively discharged very low birthweight (VLBW) infants. One hundred and forty-six long-term survivors were assessed fully at 2 years. The prevalence of cerebroventricular haemorrhage (CVH) in these survivors was 34.2% (grade 1-21.2%; grade 2-4.8%; grade 3-3.4%; grade 4-4.8%), ventricular dilatation 19.9% (including 4.1% with ventriculoperitoneal shunt), and ischaemia 9%. Impairments at 2 years were classified as nil, mild, moderate, severe or multiply severe, based on the criteria of Kitchen et al. Overall, 120 infants (82.2%) were unimpaired and 6.2% had mild, 3.4% had moderate, 4.1% had severe and 4.1% had multiply severe impairment. The major factors associated with impairment were gestational age less than 28 weeks, birthweight less than 1000 g, vaginal delivery, respiratory distress syndrome, mechanical ventilation, pulmonary air leaks and CVH. When these factors were reanalysed in a logistic regression model for odds ratios, only CVH (P less than 0.005) and birth by spontaneous vaginal delivery (P less than 0.05) were significant. The prevalence of impairment was 11.4% with no CVH, 6.5% grade 1, 71% grade 2, 20.0% grade 3 and 100.0% grade 4 CVH. The sensitivity of CVH of grade 2 or greater as a screening test was 64.7% for impairment, 78.6% for cerebral palsy and 70% for severe intellectual handicap. The mean general quotient (GQ) (Griffiths) at 2 years for infants with CVH was 89.1, and 97.5 for those without CVH (P less than 0.001).(ABSTRACT TRUNCATED AT 250 WORDS)

Brain Ischemia↗
PubMed1989

Soft-tissue tumors of the hand and wrist of children.

We report 23 children with soft-tissue tumors of the hand and wrist. Tumors of blood and lymph vessel origin accounted for nine patients; giant-cell tumors of tendon sheaths and tumoral calcinosis occurred in four patients each and soft-tissue chondroma in three. Synovial osteochondromatosis and aggressive fibromatosis were each represented by one patient. Finally, there was one child with a malignant soft-tissue tumor, an embryonal rhabdomyosarcoma of the hand. Hand and wrist ganglia were excluded. Imaging methods used in investigating hand and wrist lesions are discussed but plain radiography remains the first and often only examination necessary.

Adolescent↗
PubMed1987

Obliterative bronchiolitis due to Mycoplasma pneumoniae infection in a child.

A 6-year-old girl presented with Mycoplasma pneumoniae involving the right upper and lower lobes. She made a slow but complete recovery with resolution of the radiological changes. She re-presented 5 years later with a productive cough, recurrent wheezing and physical and radiological signs suggestive of obliterative bronchiolitis. This diagnosis was confirmed by ventilation - perfusion (V/Q) lung scan, and bronchography. The case highlights the value of V/Q scanning in the diagnosis of obliterative bronchiolitis and confirms the previous reports that mycoplasma infections are not always benign.

Bronchitis↗
PubMed1987

Familial renal abnormalities associated with the oligohydramnios tetrad secondary to renal agenesis and dysgenesis.

Thirty-four families of index cases with the oligohydramnios tetrad secondary to renal agenesis/dysgenesis were screened for renal abnormalities using Real Time ultrasonography. The index cases were separated into two groups. Group 1 consisted of cases of perinatally lethal renal disease and Group 2 of cases of renal dysgenesis secondary to the urethral obstruction malformation. Renal ultrasound screenings of 23 families in Group 1 demonstrated two previously unidentified cases of unilateral renal agenesis in siblings. Screening of 11 families in Group 2 revealed one sibling with a hydronephrotic kidney and one parent with an ectopic pelvic kidney. There is a recurrence risk of 3.5-5% in families with perinatal lethal renal disease and an increased risk of silent renal anomalies in first degree family members. The recurrence risk is low in families of infants with renal dysgenesis secondary to the urethral obstruction malformation, but immediate family members are at increased risk of structural and functional urinary anomalies. Routine renal ultrasound screening of first degree relatives of infants with lethal renal agenesis and dysgenesis is recommended.

Amniotic Fluid↗
PubMed1986

Spontaneous neonatal renal vein thrombosis.

A case of spontaneous neonatal renal vein thrombosis is presented. A 1 week old, 36 week gestation, male child presented with gross haematuria and a large right flank mass. Investigations including intravenous pyelogram, ultrasound and venacavogram indicated the diagnosis. The child was clinically well, with normal renal and clotting function. No predisposing cause could be found. A conservative approach to treatment was undertaken in view of the normal renal function, and no evidence of consumptive coagulopathy or pulmonary emboli. The child remains well, but may require nephrectomy in the future.

Diagnosis, Differential↗
PubMed1984

Primary vertebral tumours in children. Report of 20 cases with brief literature review.

20 cases of primary benign and malignant bone tumours in children were reported. The most common tumours were Ewing's sarcoma, aneurysmal bone cyst, benign osteoblastoma and osteoid osteoma. Some rare primary bone tumours in children (osteochondroma, chondroblastoma?, primary lymphoma of bone and neurofibromatosis with unusual cervical spinal changes) were also reported. The authors believe that radiographic findings together with clinical history and clinical examination may yield a high percentage of accurate diagnoses. Although microscopy is essential in the final diagnosis, the microscopic report should be viewed with caution.

Adolescent↗
PubMed1983

Multifocal chronic osteomyelitis of unknown etiology. Report of five cases.

Five cases of chronic, inflammatory, multifocal bone lesions of unknown etiology are reported. Although bone biopsy confirmed osteomyelitis in each case in none of them were organisms found inspite of an extensive work up. Different clinical course of the disease reflects different aetiology in respective cases. These cases present changing aspects of osteomyelitis emerging since introduction of antibiotics.

Adolescent↗