RESUMEN
Aortic stenosis (AS) is common and increasing in prevalence as the population ages. Using computed tomography (CT) to quantify aortic valve calcification (AVC) it has been reported that men have greater degrees of calcification than women among subjects with severe AS. These data, however, were derived in largely Caucasian populations and have not been verified in non-Caucasian subjects. This retrospective study identified 137 patients with severe AS who underwent valve replacement and had CT scans within 6 months prior to surgery. AVC scores were compared between men and women, both in the entire sample and in racial subgroups. 52% of subjects were male and 62.8% were non-Caucasian. Mean AVC score for the entire cohort was 3062.08±2097.87 with a range of 428-13,089. Gender differences in aortic valve calcification were found to be statistically significant with an average AVC score of 3646±2422 in men and 2433±1453 in women (p=0.001). On multivariate analysis, gender remained significantly associated with AVC score both in the entire sample (p=0.014) and in the non-Caucasian subgroup (p=0.008). Mean AVA was significantly greater in males than females but this difference disappeared when AVA was indexed to BSA (p=0.719). AVA was not different between racial groups (p=0.369). In this research we observed that among subjects with severe AS men have higher AVC scores than women regardless of racial background. This is consistent with previous studies in predominantly Caucasian populations.
Asunto(s)
Estenosis de la Válvula Aórtica/patología , Válvula Aórtica/patología , Calcinosis/diagnóstico por imagen , Anciano , Anciano de 80 o más Años , Válvula Aórtica/diagnóstico por imagen , Estenosis de la Válvula Aórtica/diagnóstico por imagen , Estenosis de la Válvula Aórtica/epidemiología , Estenosis de la Válvula Aórtica/etnología , Estenosis de la Válvula Aórtica/cirugía , Calcinosis/complicaciones , Calcinosis/etnología , Comorbilidad , Ecocardiografía/normas , Etnicidad/estadística & datos numéricos , Femenino , Humanos , Masculino , Prevalencia , Estudios Retrospectivos , Factores de Riesgo , Índice de Severidad de la Enfermedad , Caracteres Sexuales , Tomografía Computarizada por Rayos X/métodosRESUMEN
Calcinosis is a frequent complication of systemic sclerosis (SSc) that is usually located in extremities but may occur across the board. The aim of our study was to identify and quantify the distribution of calcinosis in a cohort of Mexican patients with SSc and its association with clinical features and autoantibodies. A cohort of patients with SSc (2013 ACR/EULAR criteria), classified in diffuse cutaneous (dcSSc) and limited cutaneous (lcSSc) (Le Roy criteria), was studied. For their analysis, patients were allocated into those with and without calcinosis (clinical and/or radiological). The evaluation included the modified Rodnan scale for skin and Medsger disease severity scale (DSS). Calcium, phosphorus, vitamin D, and parathyroid hormone (PTH) and antinuclear antibodies and extractable nuclear antigens were determined in serum. A total of 109 patients were included, 41 (37 %) with and 68 (63 %) without calcinosis. Calcinosis was more frequent in patients with dcSSc (55 vs 27 %). In total, we identified 354 sites with calcinosis and mean per patient of 12.0 ± 9.1; the most common sites affected were the hands (83 %), proximal upper extremity (27 %), and proximal lower extremity (22 %). Patients with calcinosis had a higher score of Rodnan scale, Mesdger DSS, and frequency of anti-nucleolar and anti-Scl-70 antibodies compared to those without calcinosis. Abnormal PTH elevation was found in 35 % of patients with calcinosis and 23 % without it. The prevalence of calcinosis is high in Mexican patients with SSc, especially in diffuse variety, and is associated with increased severity of disease.
Asunto(s)
Calcinosis/sangre , Calcinosis/diagnóstico por imagen , Esclerodermia Sistémica/sangre , Esclerodermia Sistémica/diagnóstico por imagen , Adulto , Anticuerpos Antinucleares/sangre , Calcinosis/complicaciones , Calcinosis/etnología , Calcio/sangre , Femenino , Células Hep G2 , Humanos , Masculino , México , Persona de Mediana Edad , Análisis Multivariante , Hormona Paratiroidea/sangre , Fósforo/sangre , Prevalencia , Estudios Prospectivos , Esclerodermia Sistémica/complicaciones , Esclerodermia Sistémica/etnología , Vitamina D/sangreRESUMEN
Familial idiopathic basal ganglia calcification (IBGC) is a rare neurodegenerative syndrome with an autosomal dominant pattern of inheritance which is characterized by deposition of calcium in the basal ganglia and other brain regions. Linkage studies demonstrated its genetic heterogeneity; however, the responsible genes are unknown. Recently, a heterozygous variation (C>G, P521A) at exon 20 of the human cutaneous T cell lymphoma-associated antigen 5 (CTAGE5) gene was found in all patients of the affected large American family linked to IBGC1 (14q11.2-21.3). However, no carrier was detected in the two affected Brazilian families. This study was performed to investigate whether the CTAGE5 P521A variation is associated with the IBGC in an affected Iranian family. Genotyping of the CTAGE5 P521A variation was determined using PCR-RFLP. Totally, 22 members of an affected Iranian family as well as 100 normal people as control group were screened. All the samples including 22 members of the affected family as well as all control people had normal CC genotype and no GC carrier was found. Our result is similar to a Brazilian study but contrary to an American report, strengthening genetic heterogeneity of this syndrome. It seems that additional studies are necessary to confirm the pathogenicity of this rare mutation.
Asunto(s)
Antígenos de Neoplasias/genética , Enfermedades de los Ganglios Basales/genética , Calcinosis/genética , Proteínas de Neoplasias/genética , Enfermedades Neurodegenerativas/genética , Polimorfismo de Nucleótido Simple , Enfermedades de los Ganglios Basales/etnología , Brasil , Calcinosis/etnología , Análisis Mutacional de ADN , Exones/genética , Femenino , Estudios de Asociación Genética , Heterogeneidad Genética , Genotipo , Humanos , Irán/epidemiología , Masculino , Enfermedades Neurodegenerativas/etnología , Linaje , Riesgo , Estados UnidosRESUMEN
Mexican Americans have exhibited increases in various coronary heart disease risk factors compared to European Americans but have also had reportedly lower coronary heart disease mortality from vital statistics studies. We hypothesized this apparent paradox might relate to lower levels of subclinical disease in Mexican Americans. A total of 105 adult Mexican Americans (42 men and 63 women, age 46 +/- 14 years) and 100 European Americans (59 men and 41 women, age 50 +/- 11 years) were studied using blood tests, transthoracic echocardiography, and computed tomography coronary artery calcium (CAC) scans. Despite a greater body mass index and triglycerides in Mexican Americans (p <0.001), the Mexican Americans demonstrated less subclinical disease than did the European Americans (14.4% vs 25.7% with CAC scores >0, p <0.05 and mean left ventricular mass [LV] of 146 vs 160 g, p <0.05). Also, the LV mass was significantly greater in Mexican Americans with than in those without CAC (mean 172 vs 140 g, p <0.05). On logistic regression analysis, age and diastolic blood pressure were associated with an increased likelihood of CAC (p <0.001 and p <0.01, respectively), and Mexican-American ethnicity was associated with a decreased likelihood of CAC (odds ratio 0.33, 95% confidence interval 0.12 to 0.87, p <0.05). On multiple regression analysis, male gender, body surface area, and systolic blood pressure were independently associated with an increased LV mass (all p <0.001). The body mass index was less strongly related to the LV mass than was the body surface area and was not related to CAC. In conclusion, Mexican-American ethnicity is associated with both a lower LV mass and a lower prevalence of CAC, although the differences in LV mass did not remain after adjustment for other factors. Although systolic blood pressure, body surface area, and male gender were most strongly associated with the LV mass, age and diastolic blood pressure, in addition to Mexican-American ethnicity, were the most important indicators of CAC.
Asunto(s)
Enfermedades Cardiovasculares/etnología , Disparidades en el Estado de Salud , Americanos Mexicanos/estadística & datos numéricos , Población Blanca/estadística & datos numéricos , Adulto , Calcinosis/complicaciones , Calcinosis/etnología , Calcinosis/patología , Enfermedades Cardiovasculares/patología , Enfermedades Cardiovasculares/fisiopatología , Estudios de Cohortes , Femenino , Ventrículos Cardíacos/patología , Humanos , Masculino , Persona de Mediana Edad , Fenotipo , Prevalencia , Factores de RiesgoRESUMEN
OBJECTIVE: Calcification of the ligamentum flavum at the cervical spine is an uncommon condition reported mainly in Japanese patients. We describe the clinical manifestations, imaging study findings, and outcomes in six cases seen in the French West Indies. MATERIAL AND METHODS: We retrospectively reviewed the medical charts of six patients admitted to an orthopedics department for spinal cord compression shown upon computed tomography to be caused by calcification of the ligamentu flavum. There were five women and one man, mean age at admission was 71.7 years (range, 64-79 years) and all six patients were Black. RESULTS: Five patients had cervical myelopathy and one was asymptomatic. All five symptomatic patients had cervical spinal stenosis, explaining the rapid symptom onset (within six and a half months) and severe motor loss. Computed tomography reconstruction in the sagittal plane ruled out ossification of the ligamentum flavum. Magnetic resonance imaging of the neck failed to demonstrate the calcifications but was useful in evaluating the severity of the spinal cord compression. One patient had articular chondrocalcinosis in both knees and another had calcifications in the basal ganglia. Surgical decompression by the posterior route was performed in two patients and was effective in both, whereas two of the three symptomatic patients who did not have surgery experienced worsening neurological loss. Analysis of the operative specimens from the two surgically treated patients showed a mixture of calcium pyrophosphate dihydrate crystals and apatite microcrystals. CONCLUSION: Calcification of the ligamentum flavum is probably underrecognized in blacks. This condition causes severe neurological loss. Imaging studies provide the diagnosis. The pathogenesis remains unclear.