Benign familial hematuria: a clinical and histological study.
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Adolescent↗
Biomedical subjects
A Onetti Muda
Publications and source records attributed to A Onetti Muda.
Non-specific binding of immunoglobulins and protein A-Gold complex with cytoplasmic granules of human mast cells.
A non-specific staining of mast cells by a number of proteins and immunoglobulins has been observed using different immunocytochemical techniques and different antisera at light and electron microscopy level. This finding has been related to an ionic binding of cationic charges, such as aminic groups with an high pI, to the strongly anionic residues of mast cell granules. This hypothesis is supported by the lack of non-specific binding achieved using negatively charged chromogens (i.e. FITC--or Rhodamine-conjugated antibodies) or using cationic dyes before the immunohistochemical reaction. It is therefore stressed that adequate and accurate negative controls must always be carried out in order to get correct interpretations of the staining results.
Cytoplasmic Granules↗
Angiokeratoma corporis diffusum (Fabry's disease) with unusual features in a female patient. Light- and electron-microscopic investigation.
A case of clinically apparent angiokeratoma corporis diffusum (Fabry's disease) in an adult female carrier is presented. The patient had biochemical evidence of the disease, and showed multiple cutaneous lesions, in the absence of other major organ involvement. Ultrastructural examination of tissue fragments obtained by skin biopsies demonstrated the presence of a few typical electron-dense lamellar structures in endothelial cells, but not in smooth muscle cells. Electron microscopy proved to be the only effective way of detecting the intracytoplasmic inclusions, since light-microscopic histochemistry failed to reveal small amounts of the stored glycolipid. The exclusive involvement of endothelial cells suggests that they are more prone to store glycolipid than are all other types of cells usually involved in the disease. The abundance of intermediate filaments in the cytoplasm of endothelial cells is related exclusively to the high blood pressure in angiomatous arteriovenous shunts.
Adult↗
Predictive factors of outcome after liver transplantation in patients with cirrhosis and hepatocellular carcinoma.
Studies to define the optimal upper limits of tumor size and number as predictors of outcome after orthotopic liver transplantation (OLT) have yielded conflicting results. We analyzed 72 patients with cirrhosis and hepatocellular carcinoma (HCC) who underwent OLT over a 12-year period in a single center. Predictive factors for survival and tumor recurrence, according to the Milan criteria, were also examined. Our cohort included 60 men and 12 women of mean age 54 +/- 8 years and mean follow-up of 40 +/- 39 months. Origin of cirrhosis was postviral in 70% and Child class B or C in two thirds of patients. HCC was multifocal in 61%; about one fifth of patients had micro- or macrovascular involvement or positive nodes upon histologic examination. The cumulative size of the lesions was <3 cm in 17 patients; >3 to < or =5 cm in 28 patients; >5 to < or =8 cm in 14 patients; and >8 cm in 13 patients. According to the number and size of tumor nodules, 49 patients met the Milan criteria. During follow-up 25 patients died, 13 due to tumor recurrence. The 1- and 2-year survivals were 90% and 85% for patients who met the Milan criteria versus 57% and 51% for patients exceeding those limits (P = .006). A cumulative tumor size >8 cm was predictive of survival and tumor recurrence upon multivariate analysis. The adoption of Milan criteria for selection of cirrhotic patients has improved survival and reduced the rate of tumor recurrence. The evaluation of cumulative tumor size might further improve patient selection.
Carcinoma, Hepatocellular↗
Epidermolysis bullosa of the Dowling-Meara type: clinical and ultrastructural findings in five patients.
Clinical and pathologic features of five cases of epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM), are described. Four patients were children, and two were related (father and daughter). Clinical history revealed blistering at birth in three patients; in all of them the signs and symptoms improved with age. Histopathologic and ultrastructural examinations showed cytolysis of the basal cells and clumping of the tonofilaments within the cytoplasm of keratinocytes. Two distinct types of clumps were observed: round (3 patients) and whisklike (2 patients). Two patients had both types of clumps. The presence of both types in the same patient suggests that subtyping of the disease is still premature.
Child↗
[Focal segmental glomerulosclerosis with IgA deposits in a patient with ulcerative colitis].
BACKGROUND: Glomerular diseases are described in patients with active ulcerative colitis (UC). Likely drug-induced interstitial nephritis, and nephrotic syndrome due to minimal change disease, have been reported in a few patients with UC on treatment with mesalazine and sulfasalazine (5-ASA). We describe a 33 year-old patient with a 5-years history of UC who recently developed nephrotic syndrome associated with microscopic haematuria. Blood pressure and renal function were normal. The patient was on azathioprine (AZA), mesalazine and sulfasalazine during the last year for his colitis, with good control of bowel disease. Renal biopsy revealed a focal segmental glomerulosclerosis (FSGS) associated with mesangial IgA deposits; no signs of interstitial nephritis were found. 5-ASA was discontinued, AZA was reduced and a rapid remission of the nephrotic syndrome was observed after 6 weeks of steroid therapy (1 mg/kg/day per os) associated with ramipril 5 mg/day, with a follow-up of 9 months. CONCLUSIONS: To our knowledge this is the first report of UC and GSFS associated with IgA deposits. The occurrence of nephrotic syndrome during UC is suggestive of an association between UC and FSGS, but a possible role of mesalazine and /or sulfasalazine in its pathogenesis cannot be excluded. Mesangial IgA deposits could be an "occasional" further occurrence, considering the chronic inflammation of colonic mucosa and the altered immune response of patients with UC.
Adult↗
[Thin basement membrane and Alport syndrome].
Alport Syndrome (AS) is an inherited disorder of the glomerular basement membrane (GBM) transmitted as an X-linked dominant form in approximately 80% of patients. This X-linked form is caused by mutations in the collagen type IV alfa 5 gene (COL4A5) located on chromosome X; in the remainder of the cases, the autosomal, mostly recessive form, results from mutations in the collagen type IV alfa 3 gene (COL4A3) or alfa 4 gene (COL4A4) located on the 2q. Diagnostic lesions can be observed by electron microscopy (EM) and are characterized by thinning, thickening and/or splitting of the GBM. Isolated thinning of the GBM is usually associated with isolated microhematuria, a non progressive condition which has often a familial trait. Skin biopsy has also recently emerged to be a valuable alternative for the diagnosis of X-linked AS, because the alfa 5 (COL4A5) chain is also expressed in the epidermal basement membrane. A reliable diagnosis can often be achieved through combined renal and cutaneous immunohistochemical analysis, even in patients with limited clinical signs or atypical histological findings, and/or without suggestive family history. The present case report is an example of such diagnostic dilemma, where these techniques allowed to make a diagnosis despite contradictive clinical and histological features in contrast with a positive family history of renal disease.
Adolescent↗
[Nephropathy in rheumatoid arthritis].
Occurrence of renal involvement in Rheumatoid arthritis is uncommon; when present it has been attributed to amyloid or secondary effects of drugs. Nevertheless, recent observations seem to indicate the existence of primary renal lesions associated with the disease. The purpose of this paper is to review the data suggesting that the kidney can be directly involved in Rheumatoid arthritis. The main points of interest are the occurrence of glomerulonephritis and/or amyloidosis, the presence of vasculitis and other arterial changes, the existence of chronic interstitial nephritis and papillary necrosis and lesions associated with gold and penicillamine therapy.
Amyloidosis↗
[Erythema dischromicum perstans (ashy dermatosis). Report of two cases].
Clinical, histological and ultrastructural investigations of two cases of Erythema Dischromicum Perstans (EDP) are reported. EDP is a chronic pigmented lesion of the skin, and its etiology is still unknown. The reported cases showed clinical and ultrastructural differences from what already described in the literature. EDP is also difficult to differentiate from other cutaneous pigmented lesions: clinical and morphologic differences and/or similarities are therefore discussed and compared. The usefulness for a correct diagnosis of the co-existence of optical and ultrastructural lesions which are not pathognomonic per se, is also stressed.
Adult↗
Atypical renal onset and involvement in primary antiphospholipid syndrome in a child.
A case of primary antiphospholipid syndrome (APS) with renal involvement in a 10-year-old child is reported. The peculiarity of the case resided not only in the apparent "primary" occurrence of APS in the pediatric age, but also in the involvement of the kidney. The renal picture in the case described consisted of a focal proliferative glomerulonephritis, without any sign of glomerular thrombosis. We conclude that this should lead to a consideration of primary APS in the differential diagnosis of nephropathies, also in childhood.
Antiphospholipid Syndrome↗