Biomedical subjects
Publications and source records attributed to G Zanni.
We present the case of a 44-year old man, presenting with acute left flank pain and gross haematuria, affected by bilateral renal mass and massive para-aortic and mediastinic lymphadenopathy, highly suspicious for metastatic renal cancer.
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BACKGROUND: Mutations of oligophrenin 1, one of the first genes identified in nonspecific X-linked mental retardation (MRX), have been described in patients with moderate to severe cognitive impairment and predominant cerebellar hypoplasia, in the vermis. OBJECTIVE: To further delineate the phenotypic and mutational spectrum of the syndrome, by screening oligophrenin 1 in two cohorts of male patients with mental retardation (MR) with or without known posterior fossa anomalies. METHODS: Clinical examination, cognitive testing, MRI studies, and mutational analysis (denaturing gradient gel electrophoresis and direct sequencing) on blood lymphocytes were performed in 213 unrelated affected individuals: 196 patients classified as MRX and 17 patients with MR and previously detected cerebellar anomalies. RESULTS: Four novel oligophrenin 1 mutations were identified. In the MRX group, two nonsense mutations were detected. In the MR group, two mutations were found: a deletion of exons 16 to 17 and a splice site mutation. All patients shared characteristic clinical, radiologic, and distinctive features with a degree of intrafamilial variability in motor and cognitive deficits. CONCLUSIONS: Oligophrenin 1 mutations were found in 12% (2/17) of individuals with mental retardatin and known cerebellar anomalies and in 1% (2/196) of the X-linked mental retardation group.
Erectile dysfunction is common in the ageing man and reliable therapies are needed. The pathophysiology of erectile dysfunction in this group mainly includes chronic ischaemia, which triggers the deterioration of cavernosal smooth muscle and the development of corporeal fibrosis. Assessing the ageing man with erectile dysfunction who seeks medical treatment should comprise a thorough medical and sexual history, a systemic and focused physical examination and selected blood tests. Oral drug therapy represents a safe and effective option for most ageing men.
We report on a family in which two males are affected with X-linked congenital ataxia (XCA). Clinical manifestations include severe hypotonia at birth, delay of early motor development, slow eye movements, and nonprogressive cerebellar ataxia. The neurological examination excluded a neuromuscular disease, mental retardation, and pyramidal tract involvement. Neuroimaging showed global cerebellar atrophy in both patients that was not evident in the first years of life. The clinical findings in this family are very similar to those in a Russian pedigree [Illarioskin et al., 1996: Ann Neurol 40:75-83] and outline a recognizable phenotype. Linkage studies in our family, using 28 highly polymorphic Généthon microsatellite markers evenly distributed along the X chromosome, excluded a 24 cM interval between DXS990 and DXS424 located within the previous candidate region of 54 cM, reducing the critical interval.
The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth/multiple congenital anomalies/dysplasia syndrome caused by a mutant X-linked gene. The spectrum of its clinical manifestations is broad, varying from very mild forms in carrier females to infantile lethal forms in affected males. A typically affected male will show tall stature, "coarse" face, supernumerary nipples, congenital heart defect, and generalized muscular hypotonia. Mental development is normal in most cases. There is an increased risk of neoplasia in infancy, especially Wilms tumor. The SGBS gene spans 500 kilobases in the Xq26 region and contains eight exons. It encodes an extracellular proteoglycan, designated glypican 3 (GPC3), capable of interacting with the insulin-like growth factor IGF2. At present, only deletions of various sizes have been found in a number of affected families.
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The authors report a rare case of abscess developed in a solitary renal cyst and observed just after the resolution of a bronchopneumonia. The modern imaging techniques, sonography and computed tomography, permitted an exact diagnosis, and subsequent surgical treatment brought to a complete recovery.
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Systolic time intervals (STI) were analyzed in 11 patients with isolated patent ductus arteriosus (PDA) and unidirectional left-to-right shunt, before, shortly after (within 2 months) and a long time (at least 10 years) after the corrective surgery. The measurements were obtained from simultaneous high speed photographic recordings of electrocardiogram, external carotid pulse and phonocardiogram. Before the operation, the left ventricular ejection time (LVET) was significantly prolonged (p less than 0.01) and this abnormality was correlated with Qp/Qs (r = 0.74, p less than 0.01). Shortly after the operation, the LVET was shorter than normal, and became normal only a long time after. It is concluded that the most likely explanation for these abnormalities is: 1) before the operation, the increased stroke volume of the left ventricle secondary to the shunt, and 2) after corrective surgery, the depressed contractility of the left ventricle secondary to the long-standing volume overload which tends to persist after the corrective surgery.
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The Authors have examined the problem concerning the presence of "Double malignancies" in the same patient, on the basis of a review of the literature and of an investigation of their own case material (nine patients: six with double solid tumours and three with a solid tumour and an associated haematologic neoplasia). The Authors discuss the time sequence of the two neoplastic processes and the immunological pattern (T and B lymphocytes) of all cases.
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