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Biomedical subjects

F Sadile

Publications and source records attributed to F Sadile.

18 recordsLinked to original sources
PubMed2000

Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorder.

Congenital insensitivity to pain with anhidrosis (CIPA), a rare autosomal recessive disorder, is characterized by insensitivity to pain, self-mutilating behaviour, anhidrosis and recurrent hyperpyrexia. It is a hereditary sensory and autonomic neuropathy, also classified as HSAN, due to a defect of the receptor for nerve growth factor. CIPA is the first human genetic disorder caused by a defect in the neurotrophin signal transduction system. This is the first clinical report of CIPA patients characterized on molecular grounds. The clinical phenotypes of our patients show that CIPA is characterized by a multisystem involvement besides the nervous system, including bone fracture with slow healing, immunologic abnormalities, such as low response to specific stimuli, chronic inflammatory state ending in systemic amyloidosis. The molecular characterization allows a better understanding of most of the clinical features.

Abnormalities, Multiple↗
PubMed1996

Arterial embolization of aneurysmal bone cysts in children.

The long-term results of six aneurysmal bone cysts in children treated by selective arterial embolization are reported. All the cysts were large and difficult to treat by surgery. To date, no surgical treatment has been required in these children and an almost complete restoration of the original shape of the affected bones has been achieved.

Angiography↗
PubMed1990

Percutaneous intralesional brushing of cystic lesions of bone: a technical improvement of diagnostic cytology.

A modified bronchial brush is presented as a new cytologic method to improve the value of fine-needle aspiration biopsy in the diagnosis of cystic lesions of bone. Four female and six male patients ranging in age from 10 to 44 years were studied. In all cases intralesional brushing was percutaneously performed under fluoroscopic control with local anesthesia. Fine-needle aspiration biopsy preceded intralesional brushing and was performed as described elsewhere. The brush was driven into the walls and septa of an osteolytic lesion through a 14-G needle; material obtained was fixed and processed for cytological and/or histological examinations.

Adolescent↗
PubMed1985

Osteogenesis imperfecta. A study of 10 cases.

From a retrospective study of 10 cases of osteogenesis imperfecta the authors have verified the usefulness of the classification proposed by Sillence. This has particular advantages in relation to correct prenatal diagnosis and genetic counselling.

Child↗
PubMed1982

Selective arterial embolisation in aneurysmal bone cysts.

The treatment of three cases of aneurysmal bone cyst by selective arterial embolism is described. Two cases had involvement of the pelvis and one of the knee. The 2-year follow up has been promising. Radiologically the lesion has been arrested with increased density of the cyst wall and intra-cystic trabecular new bone formation. Pain relief has been complete and up to now no surgical treatment has been required.

Adult↗
PubMedDate not supplied

Selective arterial embolization in orthopaedic pathology. Analysis of long-term results.

9 patients with tumorous and tumor-like skeletal lesions are examined; the patients were treated by selective arterial embolization, therapeutic, adjuvant and palliative, with follow-up ranging from 2 to 10 years. For therapeutic purposes 12 cases were constituted by aneurysmal bone cyst of large size and which was difficult to treat surgically (pelvis: 5; spine: 3; limbs: 4). For the purposes of assisting the excision procedure, selective arterial embolization was used in 2 patients with giant cell tumor of bone, the first localized in the right iliac wing and the second in the sacrum; in one patient with retroperitoneal teratoma and in 1 with hemangiopericytoma of the soft tissues of the thigh. Furthermore, in 3 patients with inoperable multiple bone metastasis, selective arterial embolization was used in order to relieve pain as palliative SAE. The authors emphasize that complete healing of aneurysmal bone cyst is possible, with no recurrence after more than 10 years; they also stress the role played by selective arterial embolization as an adjuvant particularly in the pre-surgical treatment of large giant cell tumor of bone.

Adolescent↗
PubMedDate not supplied

A new case of Ullrich's disease.

A new case of congenital, hypotonic-sclerotic muscular dystrophy is presented. The patient showed congenital hyperlaxity and looseness of distal joints, muscle weakness, and spur-like protrusion of the calcaneus. Afterwards rapid progressive contractures of both knees and hip joints developed. Muscle biopsies revealed unequivocal dystrophic abnormalities and small atrophic fibers with numerous foldings of basal lamina suggestive of a neurogenic lesion. The disease presents clinical variability but the diagnosis is possible when a newborn shows: no dominant family history, slender body, marked distal joint laxity and hyperflexibility, proximal joint contractures and normal or slightly increased serum enzymes.

Child, Preschool↗