74 research outputs found
Stability and vibrational spectra of ion pairs formed by [CN−] and [NO−] with [Li+] and [Na+]
No full text[Aggressive angiomyxoma in men. Clinicopathological presentation of a new case and differential diagnosis considerations].
No full textA further case of aggressive angiomyxoma in men is reported. This is a rare benign locally invasive soft tissue tumor, that should be properly differentiated from other benign myxoid tumors, because it needs, for its high tendency to recur, a wide-margin surgery. On the other hand, it should be distinguished from malignant myxoid tumors, because it lacks metastatic potential and thus any adjunctive therapy results useless. With a prevalent incidence in women, we retain that it merits a wider recognition also in male urologic pathology
Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family.
No full textCranioectodermal dysplasia (CED, Sensenbrenner syndrome; OMIM #218330) is an autosomal recessive disorder reported only in 15 cases, which is characterized by dolichocephaly, rhizomelic dwarfism, dental and nail dysplasia, and progressive tubulo-interstitial nephritis (TIN) leading to end-stage renal failure. Herein, we describe a new patient with cranio-ectodermal dysplasia. Unlike previously reported cases, this 4-year-old child presented with tubulo-interstitial nephropathy associated with liver cystic disease and elevated liver enzymes. The liver biopsy demonstrated congenital hepatic fibrosis secondary to ductal plate malformation. The coexistence of a chronic tubulo-interstitial renal disease with lesions associated to malformations of the hepatic ductal plate indicates that CED as a new member of the congenital hepatorenal fibrocystic syndromes
Acquired cystic kidney disease following long-term peritoneal dialysis for congenital nephrotic syndrome
No full textWe describe here the clinicopathological findings in a child with congenital nephrotic syndrome (CNS) non-responsive to medical therapy who developed acquired cystic kidney disease (ACKD) in both native kidneys after long-term peritoneal dialysis. This case indicates that CNS is a further pathologic condition related to the development of ACKD
[Mandibular median cyst. Report of a case with probable odontogenic origin].
No full textThe Authors report a case of an incidentally discovered mandibular cyst in a 40-year-old man. X-ray examination revealed an intramandibular symmetric radiolucency extending from the right II molar to the left II one; it was not connected to the root apices of residual teeth, but contained three sopranumerary tooth buds in incisive area. Histology showed a cyst lined-up by stratified squamous epithelium, with focal orthokeratinization. The clinico-radiographic and histologic findings were consistent with a median mandibular cyst, unusually large; the presence of medially located denticles inside the cyst strongly suggested an odontogenic origin
Severe liver disease in early childhood due to fibrinogen storage diseases and de novo gamma375ARG-->TRP gene mutation
No full textWe report hypofibrinogenemia and massive hepatic storage of fibrinogen in a child with cryptogenic chronic liver disease. Fibrinogen gene analysis revealed a de novo Aguadilla (c.1201C>T; p.Arg375Trp) mutation. This mutation should be considered in childhood hypofibrinogenemia associated with chronic liver disease
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