Modifications on the binding of uric acid to human plasma proteins have been studied in regularly menstruating females aged 25-30 years with a normal cycle, in comparison with a group of healthy age-matched males and with a group of post-menopausal females. The binding of uric acid to plasma proteins was estimated using micropartition system Amicon. The results obtained demonstrate a significant increase of uric acid binding during ovulatory and mid-luteal phase of menstrual cycle. No modifications are shown in post-menopausal females and in healthy males. No modifications have been shown with the same experiments performed in vitro.

Adult↗

PubMed1983

Factors affecting list size of general practitioners and number of drugs prescribed: findings of a recent study.

Using information obtained from a previous in-dept study on primary health care in one Italian region, we examined first the relationship between list size and the socio-professional profile of the doctor and second the relationship between the number of drugs prescribed at each visit and the social characteristics of both doctor and patient. Using the technique of multiple regression, these figures show that: (a) list size depends mainly on age of doctor, place of residence and that the doctor is primarily a general practitioner, i.e. he is not involved in any other medical activity; (b) the doctor's level of prescribing remains virtually constant, unaffected by his own or the patients' characteristics or the particular problem presented by the patient.

Adolescent↗

PubMedDate not supplied

Adult-onset primary glaucoma and molecular genetics: a review.

PURPOSE: To evaluate recent molecular genetic studies focused on localizing and identifying the genes involved in adult-onset primary glaucoma, characterizing the gene products, and investigating the molecular mechanisms implicated in the pathophysiology of the disease. METHODS: Several studies have aimed at understanding gene expression and protein processing and attempting to correlate the mutations identified in the involved genes, particularly the TIGR/MYOC gene, with the overall spectrum of the disease, ranging from juvenile glaucoma to typical late-onset primary open-angle glaucoma. Genetic research remains essential until highly specific and sensitive tests have been developed (plausible disease-causing sequence variations, polymorphisms). RESULTS: The most effective method for detecting glaucoma clinically is the study of optic nerve and visual field damage, as well as intraocular pressure. In subjects at high risk, in members of families with a strong history of inherited glaucoma, and in families with a MYOC-positive test, the result may represent a marker to assess presymptomatic diagnosis and may be useful as a prognostic marker. CONCLUSIONS: OPTN seems to have a role confined to the pathogenesis of normotensive glaucoma with a few exceptions. Presently, the introduction of the expensive and time-consuming OPTN gene test in the current diagnosis of familial glaucoma is not justified.

Adult↗

PubMedDate not supplied

Thin glomerular basement membrane disease.

The term thin glomerular basement membrane disease (TBMD) refers to a condition characterised by thinning of the GBM at electron microscopy examination and, clinically, by isolated hematuria, frequently occurring in other family members, with no extra-renal manifestations. Progression towards chronic renal failure (CRF), although rare, has been reported and blood pressure is high in 30-35% of cases during follow-up. TBMD is generally considered different from Alport syndrome since immunohistological investigation does not show abnormalities of type IV collagen alpha chains in the GBM, as frequently observed in Alport patients; moreover, in familial cases, the disease is transmitted as autosomal dominant trait, rarely observed in Alport syndrome. Genetic studies suggest that TBMD is a heterogeneous disease, but some cases may be related to mutations of COL4A3/COL4A4 genes, thus belonging to the spectrum of type IV collagen diseases. TBMD may arise with other glomerular diseases, most frequently IgA nephropathy, and it remains to be established whether these cases are a casual occurrence or whether a thinner than normal GBM predisposes to immune complex deposition.

Anti-Glomerular Basement Membrane Disease↗

PubMedDate not supplied

[Clinical and genetic features of the Alport 'syndromes'].

Alport syndrome (ATS) is a clinically and genetically heterogeneous progressive nephropathy often associated with deafness and/or ocular lesions. The histological aspect is characterized by thinning, thickening and splitting of the glomerular basement membrane (GBM). Alport syndrome is caused by mutations in COL4A3 gene (type IV collagen, alfa-3 chain), or COL4A4 gene (type IV collagen, alfa-4 chain) or COL4A5 gene (type IV collagen, alfa-5 chain) genes. Alport syndrome accounts for 1-2% of renal failure cases in Europe, and for 2-3% of transplanted patients in United States. This review focuses on the three types of Alport syndrome which differ in the clinical progression and in the mode of inheritance. The common X-linked form is caused by mutations in the COL4A5 gene and it accounts for 85% of cases. The autosomal dominant and the autosomal recessive forms are caused by mutations in either COL4A3 or COL4A4 genes. The autosomal recessive form which is responsible for the 10-15% of Alport cases, has been known since several years. On the contrary, the autosomal dominant form has only recently been identified in some families. Furthermore, this review will focus on the difficulties encountered during the genetic counselling related to the differential diagnosis between Alport syndrome and Thin Basement Membrane Disease (TBMD). We will report direct experiences of our group showing the difficulties to give an exact prognosis and a correct recurrence risk to the family.

Adolescent↗

PubMedDate not supplied

[Use of new forms for the evaluation of the clinical apprenticeship of nursing students].

The development of forms oriented to the evaluation of the practical training of nursing students is described. The activities of the nursing students were listed and the relevant activities for each practical training period were identified. The level of difficulty of the activity, the skills needed and the performance level to be reached by the end of the practical training period was agreed on and clearly stated for each activity. Criteria for evaluating the socio-affective and relational skills were also identified. The 28 forms developed were used for the evaluation of the practical training of 254 students. Some critical reflections and suggestions for improvement are presented.

Evaluation Studies as Topic↗