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Biomedical subjects

P Nozza

Publications and source records attributed to P Nozza.

7 recordsLinked to original sources
PubMed2006

Genetic abnormalities and CNS tumors: report of two cases of ependymoma associated with Klinefelter's Syndrome (KS).

OBJECTS: Genetic syndromes associated with ependymoma are uncommon, with the exception of NF2. We describe two cases of ependymoma presenting with Klinefelter's Syndrome (KS) as co-morbid condition. MATERIALS AND METHODS: The first patient was diagnosed for KS during pregnancy; he also presented a thyroid agenesis and a deficit of methyltetrahydrofolate reductase (MTHFR); at 30 months of age he was operated on for a grade II ependymoma of IV ventricle; after a multiple-stage surgery, he underwent oral chemotherapy and stereotactic radiotherapy, but after 15 months he presented a local recurrence and died. The second patient was diagnosed for KS at the age of 16 months; at 10 years of age, due to back pain, he underwent an MRI, which showed a cauda equine tumor. He underwent surgery and radiotherapy. Histology was of mixopapillary ependymoma. CONCLUSION: In a review of literature, various neoplasms have been described in association with KS. To our knowledge, these are the first two cases reported of ependymoma associated to KS. A retrospective study of 44 monoinstitutional ependymoma cases demonstrated association with genetic syndromes in 22%.

Central Nervous System Neoplasms↗
PubMed2006

Large plaque-like glomuvenous malformation (glomangioma) simulating venous malformation.

Glomuvenous malformations and venous malformations are vascular lesions that can be distinguished on the basis of clinical and pathological features. A vascular lesion of the skin and superficial and deep soft tissues of a lower limb in a 5-year-old child is described. The clinical and radiological features, including skeletal muscle involvement, were typical of venous malformation, whereas the histopathological features were those of a glomuvenous malformation. The clinical and histopathological features are briefly discussed.

Child, Preschool↗
PubMed2005

Pulmonary lymphangiectasia.

Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and is characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation. Both frequency and etiology are unknown. PL presents at birth with severe respiratory distress, tachypnea, and cyanosis, with a very high mortality rate at or within a few hours of birth. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated to prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy present medical problems which are characteristic of chronic lung disease.

Diagnosis, Differential↗
PubMed2003

Focal nodular hyperplasia-like areas in cirrhosis.

AIMS: Focal nodular hyperplasia-like lesions have rarely been described in cirrhotic livers. We describe five cases of such lesions. METHODS AND RESULTS: Between 1998 and 2001, 146 liver transplants were performed at the Royal Free Hospital for cirrhosis of the liver. Nodular lesions identified in the livers removed at transplantation were defined histologically according to the International Working Party classification (Hepatology 1995; 22; 983). They were present in 63 of these livers, as follows: 36 dysplastic nodules, 121 macroregenerative nodules, and 71 hepatocellular carcinomas. In five patients, an additional 12 nodules (size range 4-23 mm, median 10.5 mm) showed histological features suggestive of focal nodular hyperplasia including mildly inflamed vascular fibrous septa, and ductular proliferation. Pre-transplantation imaging showed features suspicious for hepatocellular carcinoma, in three of these lesions (12, 23 and 23 mm diameter) from two different patients. These lesions were histologically indistinguishable from focal nodular hyperplasia occurring in non-cirrhotic livers, with fibrous scars and septa which contained vascular and ductular structures. CONCLUSIONS: It is important to recognize that these lesions may occur in the context of cirrhosis and that they should be considered in the differential diagnosis with hepatocellular carcinoma, dysplastic nodules and macroregenerative nodules.

Adult↗
PubMed1998

[Case report of a double ano-rectal neoplasia (adenocarcinoma and melanoma)].

The association in a single organ of two neoplasms with different, histogenensis is uncommon. A dual ano-rectal neoplasms, pigmented malignant melanoma in collision with adenocarcinoma is reported, along with a discussion concerning the problems related with primary origin of the melanocytic component.

Adenocarcinoma↗