Biomedical subjects

A Camera

Publications and source records attributed to A Camera.

77 records · Page 5Linked to original sources

PubMedDate not supplied

[Gorlin-Goltz syndrome with odontogenic keratosis. Report on a patient followed for 10 years].

A patient with Gorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome) is described. This disease has an autosomal dominant inheritance pattern with complete penetrance and extremely variable expressivity. The case report seems to represent a new mutation. Gorlin-Goltz syndrome is characterized by a lot of symptoms primarily involving the skin, central nervous system, and skeletal system. In 90% of the patients, nevoid basal cell carcinoma syndrome is associated with recurring odontogenic keratocysts. Also our patient showed recurrent jaw and maxillary cysts, for this reasons he has been followed for 10 years to the Oral Pathology Service of Galliera Hospital.

Basal Cell Nevus Syndrome↗

PubMedDate not supplied

[Prenatal diagnosis of thanatophoric dysplasia at 21st week of pregnancy].

We report making the prenatal diagnosis of thanatophoric dysplasia without "cloverleaf" skull at 21 weeks gestation. The ultrasound examination showed short and bowed limbs, narrow thorax, and large head. Radiological and histological studies confirmed the aborted fetus to be affected with thanatophoric dysplasia. The differential prenatal diagnosis with other skeletal dysplasias is discussed.

Adult↗

PubMedDate not supplied

[Spondylo-epiphyseal dysplasia tarda with progressive arthropathy: description of a patient whose mother showed minimal features of the disease].

An 8-year-old male patient with Spondylo-Epiphyseal Tarda with Progressive Arthropathy (SEDT-PA) or Progressive Pseudo-rheumatoid Arthropathy of Childhood is reported. Abnormal gait, fatigability, and joint symptoms began at 3 years. Radiological changes were: generalized osteoporosis, platyspondyly, and enlarged epiphyses. The patient's mother showed reduced muscular massa, joint swelling, moderate osteoporosis, and normal vertebrae. SEDT-PA has an autosomal recessive mode of inheritance. In this case, as the propositus' mother showed minimal signs of the disease, either an X-linked trait or an autosomal dominant mutation with variable expressivity could also be assumed.

Child↗

PubMedDate not supplied

[Gingival hypertrophy in I-cell disease (mucolipidosis II). A report of 2 nonfamilial cases. II].

Two nonconsanguineous patients affected by I-cell disease (mucolipidosis II) are reported. I-cell disease, an oligosaccharidosis, is characterized by severe psychomotor retardation, marked shortness of stature, coarse facies, gingival enlargement, generalized bone demineralization, periosteal cloaking of long bones visible in early infancy, a rapid deteriorating course, and death from heart failure or bronchopneumonia, usually by the age of 5 years. This disorder is the result of a deficiency of glycoprotein N-acetylglucosaminylphosphotransferase activity, necessary for proper intracellular processing of lysosomal enzymes. Inheritance is autosomal recessive. It received the name I-cell disease because of several granular inclusions in the cytoplasm of cultured fibroblasts and amniotic fluid cells observed under phase contrast microscopy. These granules represent altered lysosomes. The two patients, reported here, had a very marked gingival hypertrophy and, for this reason, were referred to the Oral Pathology Service of Galliera Hospital. A gingivectomy was performed on patient 2 to improve the mastication, but few months later gingival hypertrophy reappeared.

Child, Preschool↗

PubMedDate not supplied

Prevalence of valvular regurgitation in structurally normal hearts: a colour-Doppler study.

AIM: To evaluate, by colour-Doppler echocardiography, the effects of ageing on the continence of the heart valves in patients with normal hearts. METHODS: We reviewed all the consecutive echocardiographic examinations performed in our laboratory from 1988 to 1994. From a total of 4592 records, 1654 (977 from females and 677 from males) were selected as normal-that is, not having excluded any kind of valvular, chamber or wall pathology of the heart. These records alone were considered in the study. RESULTS: One or more valve regurgitations were evident on 286 of the records (17.3%; 202 from females and 84 from males); regurgitation was always mild and was more frequent in females (20.7% compared with 12.4% of males; P < 0.001). Mitral regurgitation was the most frequent (49.3% of all regurgitant valves), followed by tricuspid, aortic and pulmonary. In age groups 0-17 years and > or = 60 years there was no sex difference in regurgitation. With ageing, there was an increasing trend in prevalence of regurgitation of the mitral, aortic and tricuspid valves in females (P < 0.001, P < 0.001 and P < 0.05, respectively), and of aortic and mitral valves in males (P < 0.001 for both). Multiple regurgitation (two or three valves) was not sex-dependent, but showed an increasing trend with ageing (from 13% to 27.5% of records showing regurgitation; positive trend, P < 0.005). CONCLUSIONS: Prevalence of mild valvular regurgitation is age-dependent, but is more common in women than in men aged 18-59 years; there is no sex-related difference in patients aged 60 years or more.

Adolescent↗