RESUMEN
We report on gender-specific reference intervals of the alpha angle and its association with other qualitative cam-type findings in femoroacetabular impingement at the hip, according to a population-based cohort of 2038 19-year-olds, 1186 of which were women (58%). The alpha angle was measured on standardised frog-leg lateral and anteroposterior (AP) views using digital measurement software, and qualitative cam-type findings were assessed subjectively on both views by independent observers. In all, 2005 participants (837 men, 1168 women, mean age 18.6 years (17.2 to 20.1) were included in the analysis. For the frog-leg view, the mean alpha angle (right hip) was 47° (26 to 79) in men and 42° (29 to 76) in women, with 97.5 percentiles of 68° and 56°, respectively. For the AP view, the mean values were 62° (40 to 105) and 52° (36 to 103) for men and women, respectively, with 97.5 percentiles of 93° and 94°. Associations between higher alpha angles and all qualitative cam-type findings were seen for both genders on both views. The reference intervals presented for the alpha angle in this cross-sectional study are wide, especially for the AP view, with higher mean values for men than women on both views.
Asunto(s)
Pinzamiento Femoroacetabular/patología , Articulación de la Cadera/anatomía & histología , Adolescente , Estudios Transversales , Femenino , Pinzamiento Femoroacetabular/diagnóstico , Pinzamiento Femoroacetabular/diagnóstico por imagen , Cabeza Femoral/anatomía & histología , Cabeza Femoral/diagnóstico por imagen , Cabeza Femoral/patología , Cuello Femoral/anatomía & histología , Cuello Femoral/diagnóstico por imagen , Cuello Femoral/patología , Articulación de la Cadera/diagnóstico por imagen , Articulación de la Cadera/patología , Humanos , Masculino , Variaciones Dependientes del Observador , Radiografía , Valores de Referencia , Reproducibilidad de los Resultados , Caracteres Sexuales , Adulto JovenRESUMEN
The reported prevalence of an asymptomatic slip of the contralateral hip in patients operated on for unilateral slipped capital femoral epiphysis (SCFE) is as high as 40%. Based on a population-based cohort of 2072 healthy adolescents (58% women) we report on radiological and clinical findings suggestive of a possible previous SCFE. Common threshold values for Southwick's lateral head-shaft angle (≥ 13°) and Murray's tilt index (≥ 1.35) were used. New reference intervals for these measurements at skeletal maturity are also presented. At follow-up the mean age of the patients was 18.6 years (17.2 to 20.1). All answered two questionnaires, had a clinical examination and two hip radiographs. There was an association between a high head-shaft angle and clinical findings associated with SCFE, such as reduced internal rotation and increased external rotation. Also, 6.6% of the cohort had Southwick's lateral head-shaft angle ≥ 13°, suggestive of a possible slip. Murray's tilt index ≥ 1.35 was demonstrated in 13.1% of the cohort, predominantly in men, in whom this finding was associated with other radiological findings such as pistol-grip deformity or focal prominence of the femoral neck, but no clinical findings suggestive of SCFE. This study indicates that 6.6% of young adults have radiological findings consistent with a prior SCFE, which seems to be more common than previously reported.
Asunto(s)
Enfermedades Asintomáticas , Epífisis Desprendida de Cabeza Femoral/diagnóstico por imagen , Adolescente , Femenino , Humanos , Masculino , Radiografía , Adulto JovenRESUMEN
In Norway total joint replacement after hip dysplasia is reported more commonly than in neighbouring countries, implying a higher prevalence of the condition. We report on the prevalence of radiological features associated with hip dysplasia in a population of 2081 19-year-old Norwegians. The radiological measurements used to define hip dysplasia were Wiberg's centre-edge (CE) angle at thresholds of < 20° and < 25°, femoral head extrusion index < 75%, Sharp's angle > 45°, an acetabular depth to width ratio < 250 and the sourcil shape assessed subjectively. The whole cohort underwent clinical examination of their range of hip movement, body mass index (BMI), and Beighton hypermobility score, and were asked to complete the EuroQol (EQ-5D) and Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC). The prevalence of hip dysplasia in the cohort varied from 1.7% to 20% depending on the radiological marker used. A Wiberg's CE angle < 20° was seen in 3.3% of the cohort: 4.3% in women and 2.4% in men. We found no association between subjects with multiple radiological signs indicative of dysplasia and BMI, Beighton score, EQ-5D or WOMAC. Although there appears to be a high prevalence of hip dysplasia among 19-year-old Norwegians, this is dependent on the radiological parameters applied.
Asunto(s)
Luxación Congénita de la Cadera/epidemiología , Articulación de la Cadera/diagnóstico por imagen , Calidad de Vida , Adolescente , Adulto , Femenino , Luxación Congénita de la Cadera/diagnóstico por imagen , Humanos , Masculino , Noruega/epidemiología , Prevalencia , Radiografía , Encuestas y Cuestionarios , Adulto JovenRESUMEN
Potassium channels in the plasma membrane of the pancreatic beta cells are critical in maintaining glucose homeostasis by responding to ATP and coupling metabolic changes to insulin secretion. These channels consist of subunits denoted the sulfonylurea receptor SUR1 and the inwardly rectifying ion channel KIR6.2, which are encoded by the genes ABCC8 and KCNJ11, respectively. Activating mutations in the subunit genes can result in monogenic diabetes, whereas inactivating mutations are the most common cause of congenital hyperinsulinism of infancy (CHI). Twenty-six Norwegian probands with CHI were analyzed for alterations in ABCC8 and KCNJ11. Fifteen probands (58%) had mutations in the ABCC8 gene. Nine patients were homozygous or compound heterozygous for the mutations, indicating diffuse pancreatic disease. In five patients, heterozygous and paternally inherited mutations were found, suggesting focal disease. One patient had a de novo mutation likely to cause a milder, dominant form of CHI. Altogether, 16 different ABCC8 mutations (including the novel alterations W231R, C267X, IVS6-3C>G, I462V, Q917X and T1531A) were identified. The mutations IVS10+1G>T, R1493W and V21D occurred in five, three and two families, respectively. KCNJ11 mutations were not found in any patients. Based on our mutation screening, we estimate the minimum birth prevalence of ABCC8-CHI in Norway to 1:70,000 during the past decade. Our results considerably extend the knowledge of the molecular genetics behind CHI in Scandinavia.