Age- and gender-specific awareness, treatment, and control of cardiovascular risk factors and subclinical vascular lesions in a founder population: the SardiNIA Study.

AIM: We investigated the gender-specific control of cardiovascular (CV) risk factors and subclinical vascular lesions in a founder population in Italy. METHODS AND RESULTS: 6148 subjects were enrolled (aged 14-102 years) from four towns. Hypertension (HT), diabetes mellitus (DM) and dyslipidemia (LIP) were defined in accordance with guidelines. A self-reported diagnosis defined awareness of these conditions, and the current use of specific medications as treatment. Prevalence was HT 29.2%, DM 4.8%, LIP 44.1% and was higher in men than in women. Disease prevalence increased with age for every CV risk factor. Men were less likely than women to take anti-HT drugs and to reach BP control (9.9% vs. 16%). Only 17.6% of HT > 65 years had a BP < or =140/90 mmHg, though 48.5% were treated. The use of statins was very low (<1/3 of eligible subjects > 65 years, those with the highest treatment rate). The ratio of control-to-treated HT was lower in subjects with, than in those without, thicker carotid arteries (31.5% vs. 38.8%, p < 0.05) or stiffer aortas (26.0% vs. 40.0%, p < 0.05) or carotid plaques (26.3% vs. 41.1%, p<0.05). CONCLUSION: A large number of subjects at high CV risk are not treated and the management of subclinical vascular lesions is far from optimal.

Education eclipses ethnicity in predicting the development of the metabolic syndrome in different ethnic groups in midlife: the Study of Women's Health Across the Nation (SWAN).

OBJECTIVE: To determine the respective roles of socio-economic status (SES) and ethnicity in the risk of incident metabolic syndrome in middle-aged women. DESIGN AND PARTICIPANTS: A total of 3302 pre- and peri-menopausal women, not receiving hormone therapy at baseline, took part in the Study of Women's Health Across the Nation, a multi-site, community-based, longitudinal study of the menopausal transition. The main outcome measures were to ascertain the prevalence of the metabolic syndrome and the incidence of the metabolic syndrome over 5 years of follow-up. RESULTS: At baseline, the prevalence of the metabolic syndrome was 21% (n = 673). Among 2512 women without metabolic syndrome at baseline, 12.8% (n = 321) developed the metabolic syndrome during 5 years of follow-up. Both ethnicity and SES were significant univariate predictors of incident metabolic syndrome. In multivariate logistic regression models that included age at baseline, menopausal status and site, baseline smoking and alcohol consumption at follow-up visit 1, as well as baseline values of each of the components of the metabolic syndrome, only education was an independent predictor of incident metabolic syndrome. CONCLUSION: Approximately 13% of peri-menopausal women developed the metabolic syndrome during the 5-year follow-up period. Education, but not ethnicity, was an independent predictor of incident metabolic syndrome risk.

Arterial stiffness and hand osteoarthritis: a novel relationship?

OBJECTIVE: Osteoarthritis (OA) and vascular stiffening may share elements of common pathogenesis, but their potential relatedness has been the focus of little prior inquiry. We tested the hypothesis that these two aging-associated conditions are related to each other. METHOD: We analyzed cross-sectional data from 256 participants of the Baltimore Longitudinal Study of Aging (BLSA), a study of normative aging. All underwent measurement of arterial pulse wave velocity (PWV), an index of vascular stiffness, as well as hand radiographs that were graded for evidence of OA. Twenty total joints across three joint groups (distal interphalangeal [DIP], proximal interphalangeal [PIP], carpal-metacarpal [CMC]) were each assigned a Kellgren-Lawrence grade (K-L) of 0 (normal) through 4 (severe), with K-L grades >or=2 considered evidence of definite OA. Radiographic hand OA was defined as definite OA changes in at least two of the three anatomic hand sites (DIP, PIP, CMC). OA burden was represented by the total number of affected OA joints, and a cumulative K-L grade was aggregated across all hand joint groups. The relationship of PWV with these three measures of hand OA was assessed by linear regression. RESULTS: Upon univariate analysis, the presence of radiographic hand OA (beta=218.1, P<0.01), the total number of OA joints (beta=32.9, P<0.01), and the cumulative K-L grade across all joint groups (beta=12.2, P<0.01) were each associated with increased PWV. These associations, however, were no longer significant in age-adjusted models. CONCLUSION: Although significant individual relationships between PWV and several measures of hand OA were observed, these associations were largely attributable to the confounding effect of age.

A patient with syncope, only "vagally" related to the heart.

Syncope due to atrioventricular block may occur as a result of a cardiac vasodepressor reflex. This article reports a case of syncope in a 58-year-old man with high-grade atrioventricular block documented by ambulatory ECG monitoring at home. What makes this case unusual is that the patient's principal diagnosis was noncardiac.

Cryptorchidism and testicular torsion.

The cause of cryptorchidism remains obscure. Hormonal therapy is ineffective for most patients and initial response may be temporary. Surgery remains the most effective treatment for cryptorchidism. Testicular torsion is a surgical emergency in the postnatal infant and the pubertal male. Controversy surrounds the management of prenatal torsion.

Painful thyroid gland: an atypical presentation of Graves' disease.

An adolescent with Graves' disease presented with acute painful swelling of the thyroid gland and overlying erythema simulating acute suppurative or subacute thyroiditis. She had an elevated radioactive iodine uptake, thyroid stimulating antibodies, thyrotrophin binding inhibiting immunoglobulins, and a normal sedimentation rate and leucocyte count. The course of the thyrotoxicosis and painful thyroid was protracted, and the pain and tenderness of the thyroid recurred on two subsequent relapses.

Transient primary hypothyroidism in prematures.

Twelve sick neonates, ten of whom were prematures, were found to have transient primary hypothyroidism. Two months after cessation of treatment all those followed were found to be clinically and biochemically euthyroid. The possible etiologic factors in the pathogenesis of transient hypothyroidism of the sick prematures are discussed. Iodine deficiency is probably an important precipitating cause.

Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome.

Four sibs, three males and one female, had microcephaly, hypergonadotropic hypogonadism, short stature, and multiple congenital anomalies. They had five normal sibs and consanguineous parents. Findings in the affected sibs also included a narrow forehead, synophrys, micrognathia, abnormally folded pinnae, early loss of teeth in three, cubitus valgus in two, genu valgum, gynecomastia, and undescended testes in one. All sibs had normal chromosomes. Results of tests for growth hormone release and adrenocortical function were normal. Luteinizing hormone releasing hormone (LHRH) and human chorionic gonadotropin (hCG) stimulation tests were consistent with primary gonadal failure. Testicular biopsy, performed on two affected males, was normal in one and showed focal atrophy with decreased spermatogenesis in the other. The patients manifest a phenotype different from all other known types of hypergonadotropic hypogonadism and appear to represent a new MCA/MR syndrome.

Acute febrile neutrophilic dermatosis (Sweet's syndrome): case report and review of the literature.

An 8-month-old male infant had fever, polymorphonuclear leukocytosis, and tender, firm, elevated erythematous plaques on his face, trunk, and extremities. Histologic examination revealed a dense, perivascular, polymorphonuclear, inflammatory cell infiltrate with nuclear dust in the dermis and intrafollicular abscesses. The rash responded promptly and dramatically to oral corticosteroids. In our opinion, these features represent a distinctive hypersensitivity reaction consistent with acute febrile neutrophilic dermatosis (Sweet's syndrome). It seems that Sweet's syndrome has two age peaks: infancy and middle age. In the former, no sex predilection and no underlying malignancy have been recorded. In the latter, females are preponderantly affected and an associated underlying malignancy has been described.

Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with deficient alpha-ketoglutarate dehydrogenase activity.

Three brothers with diabetes mellitus, thiamine-responsive megaloblastic anemia, and sensorineural deafness are reported. Two had, in addition, congenital septal defects. The activities of thiamine-dependent enzymes were determined in one patient, revealing low alpha-ketoglutarate dehydrogenase activity, which could have caused a sideroblastic anemia with secondary megaloblastic changes. The anemia was thiamine dependent. The cause of the diabetes mellitus was not known, but it was not type 1.

Association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. The Wolfram or DIDMOAD syndrome.

Seven patients with a rare syndrome of diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), neurosensory deafness (D), atony of the urinary tract, and other abnormalities (Wolfram or DIDMOAD syndrome) are reported. Of the seven patients, three siblings were followed up for 10-17 years. All seven patients had diabetes mellitus and optic atrophy; six had diabetes insipidus; and in the four patients investigated there was dilatation of the urinary tract. The severity of diabetes varied, and all required insulin for control of the hyperglycaemia. In one patient the course of the disease simulated maturity onset diabetes of the young; another presented with ketoacidosis; but none had haplotypes usually associated with insulin dependent diabetes mellitus. The diabetes insipidus responded to chlorpropamide, suggesting partial antidiuretic hormone deficiency. Onset of optic atrophy and loss of vision occurred relatively late and progressed slowly, although in one patient there was a rapid deterioration in visual acuity. Deafness was mild, of late onset, and of sensorineural origin. A degenerative process affecting the central and peripheral nervous system can explain all the manifestations of the syndrome except diabetes mellitus. The pathogenesis of the diabetes mellitus remains obscure.

Genital anomaly and cardiomyopathy: a new syndrome.

Two brothers, products of a consanguineous marriage, had severe hypoplastic genitalia and cardiomyopathy. These findings are similar to those of three other brothers of another consanguineous family who in addition had evidence of mental retardation. These five boys probably represent a previously undescribed syndrome of genetic origin but of poorly understood pathogenesis.

The syndrome of hyperostosis and hyperphosphatemia.

Six children, five girls and one boy, presented with recurrent episodes of swelling, pain, and tenderness of the long bones. On roentgenographic examination all had cortical hyperostosis of the affected areas. Serum phosphate concentration was persistently elevated, and calcium values were normal. Bone biopsy and histologic examination in three patients revealed periosteal new bone formation. The Ellsworth-Howard test was performed on three patients; all had a normal phosphaturic response and an increase in urinary c'AMP to exogenous PTH. The EDTA test, performed on one patient, demonstrated significant phosphaturic response, but a minimal drop in serum phosphate concentration. These findings suggest that the association of cortical hyperostosis and hyperphosphatemia is a distinct clinical entity, and that hyperphosphatemia results from decreased renal excretion of phosphate.

Congenital generalized lipodystrophy.

Six patients with congenital generalized lipodystrophy are described. They had generalized paucity of fat tissue, acanthosis nigricans, prominent superficial veins and muscle hypertrophy. They were mentally retarded. Three had corneal opacities. They had normal external genitalia and none was tall for age. Their bone age was advanced and some had minor skeletal anomalies and nephromegaly. The muscle histology on light microscopy was normal. The majority had elevated serum aldolase and to a lesser degree serum lactic dehydrogenase and creatinine phosphokinase. Four of five examined had a myopathic electromyogram. They had normal or deranged liver function tests. The fatty liver infiltration in one seems to be progressive. Four had a normal and two an abnormal metyrapone test. They had an age-dependent abnormality of growth hormone, insulin and carbohydrate homeostasis.