Measurements of mean reaction times for fusion-fission and fusion-evaporation processes in the 28Si+28Si interaction.
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Biomedical subjects
Publications and source records attributed to A Taccone.
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A syndrome of ocular and cutaneous hypopigmentation, severe mental retardation with spastic tetraplegia and athetosis was first observed by Cross in three siblings of an inbred Amish family. Since then, seven other patients, three sporadic and four with familial recurrence, have been reported in the literature, confirming the autosomal recessive inheritance. The clinical spectrum of the syndrome has been expanded to include true developmental defects of the CNS such as cystic malformation of the posterior fossa of the Dandy-Walker type. We report a new case of Cross syndrome.
Cranial CT and/or MRI examinations were performed in 8 patients affected with mucopolysaccharidosis. Two patients were affected with mucopolysaccharidosis IH,1 had mucopolysaccharidosis IS, 1 had mucopolysaccharidosis IV A and 4 presented mucopolysaccharidosis VI. CT and MRI showed white matter changes consisting of symmetric and diffuse hypodense areas on CT, large areas and multiple spots of prolonged T1 and T2 value on MRI. Reduced gray/white matter contrast was demonstrated on T2-weighted sequences. Furthermore, CT and MRI showed thickening of the dura mater at the cranio-cervical junction, which caused subarachnoid space narrowing in all patients. Spinal cord compression was detected in 4 patients. Additional findings were mild to severe hydrocephalus, skull dysplasia and odontoid dysplasia. Owing to the progressive clinical course of all mucopolysaccharidosis, the authors stress the importance of a careful study of the cranio-cervical junction in all the patients with mucopolysaccharidosis examined by CT or MRI in order to demonstrate essential thickening of the dura mater. In the patients with symptomatic cord compression, surgery should be considered.
Forty-four patients affected with cystic fibrosis (CF) were examined by means of high-resolution Computed Tomography (HRCT) of the chest; the sensitivity of this technique was evaluated in identifying small pulmonary structure alterations, and its role outlined. In all cases, HRCT scans allowed early lobular shape anomalies to be detected and secondary pulmonary lobular lesions to be correlated with disease evolution. A classification for lobular lesions was proposed: Stage I - Thickening of the bronchovascular bundle and/or intralobular septa and/or middle interstitial compartment. Unessential changes in lobular ventilation. Preservation of lobular shape. Stage II - Intralobular emphysema. Acinar filling with normal ventilation (A) or diffuse hypoventilation of the lobule (B). Preservation of lobular shape. Stage III - Lobular consolidations. Preservation of lobular shape. Stage IV - Patch distribution of lesions characterized by derangement of lobular structures. Changes in normal lobular shape. The identification of these lesions confirms HRCT as the most sensitive technique for the early visualization and localization of signs of CF bronchopneumonopathy. A broader experience coming from the systematic use of HRCT in chronic inflammatory lung diseases would increase our knowledge of pathogenetic processes and allow therapeutic perspectives to be improved.
Isolated oesophageal leiomyomatosis in children is very rare. The association between leiomyomatosis of oesophagus and female genital tract and an Alport like hematuric nephritis has been recognized as a distinct entity by Garcia-Torres and Guarner. Since then few other cases of this syndrome have been observed. Congenital cataracts and neurosensory deafness have been added to the clinical spectrum. Autosomal dominant inheritance is suggested by the familial cases. We report a patient who presents, as a new finding, leiomyomatosis of the rectum.
A case of Listeria monocytogenes bacteraemia and meningitis with intracerebral abscesses in a girl with acute lymphoblastic leukaemia in relapse is reported. The clinical features included subacute onset with fever and marked irritability followed by seizures, meningism and confusion. The pathogen was isolated from blood and cerebrospinal fluid. Computerised tomography of the brain showed two intracerebral parenchymal localisations, in the left frontal lobe and in the right occipital lobe, respectively. The patient survived this severe infection without neurological sequelae. 2 months later she underwent allogeneic bone marrow transplantation without major complications. This case report should alert pediatric oncologists about the possible occurrence of severe intracerebral listerial infections in the immunocompromised child and suggests that this infection can be treated successfully and should not necessarily preclude continuation of antineoplastic treatments.
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The study of anorectal malformations has considerably improved over the last years also thanks to the use of such diagnostic techniques as CT and MR imaging, which allow a better knowledge of perineal region anatomy and the demonstration of the development of sphincteric structures. The most important diagnostic phase for the identification of anorectal malformations consists in the detection of rectal fistulas. The authors report on their experience with barred water-soluble contrast enema in the study of anorectal anomalies. Over 2 years, 23 patients with anorectal malformations (10 males and 13 females) previously submitted to colostomy, were studied with this method. Fistulas were detected in 21 cases; in the extant 2 patients (both females affected with Down syndrome), no fistulas were detected, not even at surgery, which was posterior sagittal anorectoplasty according to Peña-De Vries. In our experience, the most frequent anomalies were recto-bulbo-urethral fistula in males and low recto-vaginal fistula in females. The authors suggest the use of this method as a routine diagnostic examination, because of its proven reliability.
Anorectal malformations include a variety of anatomical anomalies which are often difficult to assess. Thirty-four patients (age range: 1 month-19 years) were studied over a 4-year period, 14 of them preoperatively and 20 postoperatively. In addition to inverted lateral plain films, a barred Iopamiro enema was performed in 13 of 14 cases by a Foley's catheter via colostomy. Endocolic pressure could thus be increased, which allowed the detection of rectal fistulas in 11 of 13 cases. Preoperative CT was performed in 9 cases, and MRI in 5. Both CT and axial MR scans provided accurate images of sphincteric muscles: they were well developed in 7 patients and poorly developed in 6; in 1 case the muscles were not identified. Sagittal MR scans only demonstrated the distance between blind pouch and perineum. Sagittal MRI also provided images of the spine (1 patient exhibited tethered cord). In the postoperative management, except for severe sacral anomalies, miscentered puborectal muscle and hypoplastic musculature were observed as the most frequent causes of fecal incontinence in patients treated with abdomino-perineal pull-through of the colon. To select the cases who needed reoperation, most frequently secondary PSARP, 17 patients were studied by CT and 7 by MRI; both techniques were employed in 4 cases. In 6 patients good development of sphincteric musculature and neo-anorectum correctly positioned within were observed. In 4 cases the neo-anorectum was correctly positioned, but sphincteric muscles were too hypoplastic to allow good continence; in 10 patients with incontinence, the neo-anorectum was seen outside sphincteric musculature: in 2 cases the latter was well developed (1 patient had had severe surgical damage to levator ani), while in 8 it appeared to be poorly developed. In our experience, postoperative CT allowed a correct evaluation to be made, whereas MRI failed to yield additional information.
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.
We present a retrospective study of occult spinal dysraphism in 47 children aged 0 to 14 years, all studied with plain X-rays, 60% with CT and myelo-CT, and 40% with MR. We consider the classification and grading of these malformations, clinical, neuroradiological patterns, and indications for surgery. In the light of our findings and of the published data MR emerges as the key investigation. Only in a few cases of great anatomical complexity is it now necessary to perform CT and myelo-CT as well. A case in point is when the conus and thickened filum terminale are inextricably bound together and can no longer be considered separate structures. We propose the term "neurofibrous structure" to define the conus-thickened-filum-terminale unit when these structure are no longer distinguishable.
At present, magnetic resonance is a useful modality for the diagnostic assessment of focal nodular hyperplasia of the liver. In the pediatric age group, diagnosis for this kind of pathology is more effective and conclusive when performed by MR, because of the limited variety and the restricted expression of primary hepatic tumors. MR diagnosis is based on the presence of a central connective tissue that is scar hyperintense on T2-weighted sequences, which can be regarded as a typical finding, though not specific. The other criteria used to differentiate it from primary malignant tumors on MRI are the homogeneity of the tissue surrounding the scar and its signal intensity, which is similar to that of adjacent normal hepatic parenchyma.
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.
Ten patients with anorectal malformations were studied by preoperative CT: well developed sphincteric muscular structures (puborectal sling of levator ani, muscular striated complex and external sphincter) were present in six patients. In three patients muscular structures were poorly developed (case 2a with rectovaginal fistula, case 5a with rectocloacal fistula and case 7a with prostatic fistula). In one case with bladder fistula, the sphincteric musculature was not identified at all. Eleven patients were postoperative studied by pelvic CT: Two of 11 cases had a good sphincteric control. The other nine patients were incontinent. In three of the nine incontinent patients, the colon was appropriately place, but puborectal muscle and sphincteric complex were hypoplastic. In the other six cases CT showed a pulled through colon out of the sphincteric structures. Four of them presented major bony sacral abnormalities and/or lesion of the sphincteric muscle structures. The remaining two patients with an evident pulled-through colon out of a normally developed sphincteric region and without sacral anomalies, were selected for a secondary PSARP procedure. In one of these two patients the operation brought about a complete resolution of the fecal incontinence. The pelvic CT is a useful examination in the anorectal malformation for the preoperative prognostic evaluation of continence, while postoperative CT is essential in selecting those incontinent patients who need a secondary PSARP for the treatment of fecal incontinence.
In spite of the progress in the field of surgical treatment of anorectal malformations, faecal incontinence is, in variable degrees, still an unpleasant and frequent postoperative sequela. Postoperative CT demonstrate the location of the pulled-through intestine, including whether it had been correctly placed through the levator ani and in the spincteric muscular complex. In our nine patients we discovered a correlation between the CT findings and the clinical picture. The cases of incontinence whether associated with sacral anomalies or not were characterized either by marked hypoplasia of musculature or by the pull-through having missed the sphincteric musculature. CT scans could be of use in planning further surgery.
27 cases of primary malignant and benign rib tumours are reported. The most common malignant rib tumour in childhood is Ewing sarcoma (20 cases). Some other rare bone tumours and tumorous conditions (reticulosarcoma, aneurysmal bone cyst, monostotic rib eosinophilic granuloma, osteoid osteoma and lymphangioma) are also described. In the authors' opinion Ewing sarcoma presents with characteristic clinico-radiographic findings in most of the cases. Other monostotic, primary rib tumours and tumorous conditions in childhood--with the exception of exchondroma and enchondroma--rarely show diagnostic radiographic features.
30 children with Ewing's sarcoma, the most common malignant pelvic tumour in childhood, were analysed. The diagnosis of Ewing's sarcoma is relatively easy and can be established in most of the cases on plain radiography. The diagnostic radiographic features of the tumour are discussed. The two most important conditions in differential diagnosis are eosinophilic granuloma and the rare primary bone lymphoma. Osteomyelitis should rarely cause confusion unless the clinico-radiographic findings are not properly evaluated.
14 cases of rare, primary iliac, pubic and ischial bone tumours or tumorous conditions are reported. These include aneurysmal bone cyst, eosinophilic granuloma, cavernous haemangioma, osteoid osteoma, fibrous dysplasia, fibrous dysplasia with sarcomatous degeneration, chondrosarcoma, lymphoma and atypical malignant histiocytosis. The possibilities to be considered in the accurate radiographic recognition of primary tumours of iliac, pelvic and ischial bones are discussed.