Progressive deficiencies in blood T cells associated with a 10p12-13 interstitial deletion.

We report on a 8-year-old patient affected by a selective T-cell defect associated with mental retardation and dysmorphic signs. At birth thymic aplasia and hypoparathyroidism were noted, suggesting a DiGeorge-like anomaly. The immunological evaluation during the 8 years follow-up revealed a progressive decrease of CD3+CD4+ lymphocytes, which paralleled deficiencies of blood T cells.

Minilaparotomy with rectus muscle sparing: a personal technique for cholecystectomy.

The present paper describes a minilaparotomy technique characterized by an horizontal incision of the skin and two successive vertical incisions which run along distinct sagittal as well frontal planes, sparing, thus, the rectus muscle. This approach, in comparison to other minilaparotomy techniques, ensures a reduced incidence of incisional hernia, decreased postoperative pain and optimal cosmetic results. The technique is useful when laparoscopic cholecystectomy is contraindicated or the laparoscopic apparatus is not available.

Bloody diarrhea years after resection of a rib.

A 32-year-old man presented with bloody diarrhea of new onset. For three days he had had 10 to l5 bowel movements per day containing bright red blood. He also had had one black, tarry stool, but no fever, chills, nausea, vomiting, or constipation.

Hepatic incidentaloma. Retrospective analysis of 35 cases.

At present imaging techniques and laboratory tests are employed very extensively to investigate obscure visceral symptoms. During these investigations it can happen that a liver lesion is discovered. This lesion, solid or cystic, when discovered in the liver of a healthy person, is called hepatic incidentaloma.

[A comparison between magnetic resonance and other imaging technics in the study of cardiac pathology].

In this paper the authors reviewed the diagnostic applications of magnetic resonance imaging in the study of cardiovascular disease. This technique shows to be promising for the future; nevertheless echocardiography and nuclear medicine are yet the techniques of first choice in the evaluation of cardiovascular diseases.

A case of pneumonia with extrapulmonary manifestations.

A 24-year-old man presented with a nonproductive cough, fever, and occasional shaking chills of one week's duration. he also had pleuritic left-sided chest pain on deep inspiration and a rash on his palms, soles, trunk, and mouth. His wife had been sick with "pleurisy" two weeks earlier; her symptoms had resolved with antibiotic therapy.

Primary extrahepatic bile duct carcinoids.

Biliary tact carcinoids are extremely rare: only ten cases have been reported up to now. The Authors describe a successfully treated carcinoid tumour of the proximal bile duct and review the literature about these rare malignancies. Despite extensive preoperative work-up, including ultrasound, CT scan and ERCP, a definite diagnosis is hardly possible prior to histologic examination of the operative or necropsy specimen.

[Magnetic resonance in AIDS-related encephalopathy].

Fifty-eight patients with AIDS disease were studied with MR imaging in the aim of detecting the grade of brain involvement. The examinations were performed with a 1.5 Tesla magnet.

[High resolution CT in the evaluation of pulmonary parenchymal diseases].

In this manuscript we evaluate the role of HR CT in polmonary parenchymal disease.

White matter changes associated with feline GM2 gangliosidosis (Sandhoff disease): correlation of MR findings with pathologic and ultrastructural abnormalities.

Purpose: To establish changes on MR of the brain in a feline model of Sandhoff disease in order to develop standards by which this model may be used in future noninvasive studies.

Methods: Five affected felines and six age-matched, littermate controls were evaluated. T1- and T2-weighted images were obtained once or twice for each of four affected and five control animals at 4 1/2 to 12 weeks of age, for a total of 15 MR examinations.

Double autosomal/gonosomal mosaic aneuploidy: study of nondisjunction in two cases with trisomy of chromosome 8.

We report cytogenetic and molecular investigations performed in two cases of mosaic trisomy 8 combined with mosaic sex chromosome aneuploidy. In a 35-year-old female, presenting with short stature, gonadal dysgenesis, and a multiple congenital anomalies/mental retardation syndrome typical of trisomy 8, chromosome analysis from peripheral lymphocytes showed the presence of three cell lines, whose karyotypes were 45,X (59.2%), 46,X,+8 (1.

Neurofibrillary tangles in Niemann-Pick disease type C.

Niemann-Pick disease type C (NPC) is an autosomal recessive disease, belonging to a clinically heterogeneous group of lipid storage diseases, distinguished by a unique error in cellular trafficking of exogenous cholesterol, associated with lysosomal accumulation of unesterified cholesterol. Unlike Niemann-Pick disease types A and B, there is no primary genetic defect in sphingomyelinase in NPC. During the routine neuropathological study of NPC patients, we found neurofibrillary tangles (NFT) in a series of cases with a slowly progressive chronic course.

[Magnetic resonance with intrarectal coil in the study of the prostate].

The objective of this study was to determine the usefulness of the endorectal surface coil in the evaluation of the prostate. The endorectal surface coil provide more detailed visualization of the prostate and periprostatic structures than the body coil. Seminal vesicle architecture and the prostatic capsula are well seen on all of the endorectal coil images thus, disruption of the capsule on the endorectal coil images could be used as a sign of capsular invasion.

[Role of imaging technics in the identification, characterization and staging of lung neoplasms].

The findings in different imaging techniques in the diagnosis of bronchogenic carcinoma are discussed in this report. Conventional radiology is useful for diagnosis, but is insufficient for characterising and assessing the extension of neoplastic masses of the lung. CT and MR imaging are not essential for the diagnosis and characterization of these lesions, but they certainly allow a more accurate evaluation of staging than normal X-ray examination.

[Neoplastic involvement of the cranial base. Role of computerized tomography and magnetic resonance].

We discussed in this paper the abilities and limits of CT Scan and MR Imaging in the diagnosis of skull base tumors. We stressed the role of computerized neuroimaging in the characterization and evaluation of the extension of these tumor masses involving the skull base.

[Images of pancreatic pathology: advantages and limitations of magnetic resonance compared with computerized tomography and ultrasound].

We discuss the usefulness of MR examination in the diagnosis of pancreatic diseases, in addition to the other available imaging techniques. MR imaging yields important information in diagnosis and staging of pancreatic tumours, and in the characterization of pancreatic masses. MRI is also valuable for the study of chronic as well as acute pancreatitis, although there are some limits such as the poor detection of calcifications in the chronic, and the excessively long time required to complete the examination in the acute form.

[Role of magnetic resonance in the evaluation of space-occupying mediastinal pathology].

All MR findings in the study of mediastinal masses are discussed in this report, with the aim of evaluating the reliability of MR imaging in this pathology. The results obtained in the assessment of the extension of these masses are very useful and MR imaging appears to be the most informative of all techniques. Masses originating from the thymus, cystic lesions, substernal goitre, and esophageal tumors were considered.

[Role of magnetic resonance in the identification, characterization and staging of prostatic cancer. Comparison with transrectal echotomography and computerized tomography].

The results of MR imaging in diagnosing, and characterizing of prostatic malignant tumour, as well as its feasibility in assessing the extension are discussed in this paper. We also compared MR findings with the results obtained from trans-rectal ultrasonography and computed tomography. In particular, we emphasize the important role of MR examination with trans-rectal coil which is, at present, the most sensitive technique for the identification and characterization of prostatic tumours as well as for assessing their extension.

[Correlations between magnetic resonance, ultrasonography, and computerized tomography in invasive gynecologic pathology].

In this report we evaluated the indications, the results and limits of MR examination in the diagnosis of neoplastic diseases affecting the ovary and in the staging of endometrial or cervical cancerous processes. MR findings are compared with the results of other techniques like Ultrasonography or Computed Tomography. The best advantages of MR imaging are the lack of radiation and the possibility of multiplanar studies of the pathologies.

[Characterization of space occupying masses in the diencephalic-hypothalamic region. MRI vs. TC].

All morphologic aspects of neoplastic and non neoplastic masses, arising from the diencephalic-hypothalamic region are discussed in this paper. We describe the densitometric characteristics on CT scan and the MRI appearance of masses affecting this region, both of benign lesions and malignant neoplastic masses. We describe separately masses arising from within the III ventricle and those of extraventricular origin and all semiotic findings of neuroradiological techniques of computed imaging.

[The role of magnetic resonance in the evaluation of pathological processes involving the penis].

The above paper was aimed at defining the usefulness of MRI in the study of pathologies involving the penis. Disorders considered include Peyronie's disease, fibrosis of the penis, priapism, trauma, congenital anomalies, and tumors. In Peyronie's disease and in fibrosis of the penis, MRI permits to demonstrate the abnormal thickening of tunica albuginea and erectile tissue; after administration of gadolinium, it becomes possible in some cases to demonstrate plaques of the albuginea that are not palpable.