Archive for December, 2011
Posted by James
Introduction
The WHO definition of post-menopausal osteoporosis is based on the measurement of bone mineral density (BMD) with dual X-ray absorptiometry (DXA). Low DXA-BMD of the hip as well as poor results in the trail making and chair rising tests are risk factors of equivalent magnitude for vertebral fractures (Johnell, 2004(. Consequently, more diagnostic approaches are needed to complete the diagnostic procedure. The most important method to identify spinal fractures is conventional X-ray, particularly because >50% of spinal osteo- porotic fractures are not accompanied by clinical symptoms, and hence, remain unnoticed. Nevertheless, the diagnosis of vertebral fractures is important, because the prevalence of vertebral fractures is associated with an increased risk of incident fracture (Johnell, 2004; Felsenberg, 2004).
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Posted by James
So far 109 hypocalcemic patients have been registered in the RIIP of Florence. Subjects had an age ranging from 6 to 71 years. Both sexes were represented (48 female and 61 males). There were 14 cases of PHPIa; 8 cases of PHPIb; 8 cases of PPHP; 57 cases of idiopathic hypoparathyroidism; 2 case of DiGeorge syndrome; 8 cases of isolated parathyroid agenesis; 9 cases of APS 1; and 3 cases of universal calcinosis (Table III). The geographical distribution of the patients was the following: 51% from the South, 39% from the Center, and 10% form the North of Italy (Fig. 1).
Thirty-nine patients (10 women and 29 men) with a mean age 40±22.4 SEM years (range 7-66) underwent genetic test to evaluate the presence of GNA S1 gene mutations. For 4 of them, blood samples for genetic analysis from relatives were made available.
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Posted by James
Italian Register of Primary Hypoparathyroidism
In 1996 an Italian Register of Primary Hypoparathyroidism was created in Florence and named RIIP. It is a passive register and its Central Secretariat has been established in Florence. RIIP collects clinical records both on sporadic and familial cases of primary hypoparathyroidism. Information was obtained from Italian endocrine, neurological and pediatric Centers through the compilation of a simple form, that includes the identification code of the patient, the date of birth, the diagnosis of the type of hypoparathyroidism, the presence of other associated diseases (typical or not), the data on organ and non-organ antibodies, the results of PTH infusion and genetic tests. Each subject is requested to give informed consent and at any time the patient can ask to obtain his/her clinical data deleted from the official file. The form (available on request) has been arranged to be sent by fax and e-mail (Table II).
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