Biomedical subjects

F Emma

Publications and source records attributed to F Emma.

21 records · Page 2Linked to original sources

PubMed1991

Heterogeneity of growth of bone in children at the spine, radius and total skeleton.

Bone mineral content (BMC), density (BMD), and size were measured in 202 subjects ranging from 3 to 25 years of age (106 males and 96 females), half of which were children and half young adults. BMC and BMD were measured using single photon absorptiometry at the proximal and distal radius and dual photon absorptiometry at the lumbar spine and the total body. In the pre-pubertal age group (3-9 yrs), no differences were found in BMC nor BMD between males and females at any site. Growth of bone during puberty was characterized by an increase in BMC, bone size and BMD. The percent increase in BMC was greater at the lumbar spine and the total body (+200 to +390 %) than at the radius (+90 to +270 %). The increase in BMC was higher than the increase in BMD (+50 to +90 %). Overall bone growth in the total body was not reflected by changes in BMC of the appendicular skeleton. The increase in BMD was heterogeneous and was higher in the legs than in the arms. In males, the increase in BMC and size during growth was greater than in females resulting in a higher peak bone mass and size in males. The increase in BMD was similar between males and females at the distal radius, the lumbar spine and the total body, but higher at the proximal radius, the arms and the legs in males.(ABSTRACT TRUNCATED AT 250 WORDS)

Absorptiometry, Photon↗

PubMedDate not supplied

[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↗

PubMedDate not supplied

[Alpha 1-antitrypsin in thalassemia major].

The authors investigated a possible relationship between alpha 1-antitrypsin (alpha 1AT) phenotypes, serum levels of alpha 1AT and liver disease in transfusion dependent thalassemia major subjects. The distribution of alpha 1AT phenotypes suggest the absence of association between alpha 1AT variants and thalassemic genes and underlines again the low incidence of pathologic variants in Italian population. Mean concentration of alpha 1AT was significantly increased in thalassemic patients and was not related to transaminase levels. These results show that other factors are responsible for the development of liver disease in transfusion dependent thalassemic subjects.

Adolescent↗