Hypospadias as a novel feature in spinal bulbar muscle atrophy

Spinal and bulbar muscle atrophy (SBMA) is an X-linked neuromuscular disorder caused by CAG repeat expansions in the androgen receptor (AR) gene. The SBMA phenotype consists of slowly progressive neuromuscular symptoms and undermasculinization features as the result of malfunction of the AR. The latter mainly includes gynecomastia and infertility. Hypospadias is also a feature of undermasculinization with an underdeveloped urethra and penis; it has not been described as part of the SBMA phenotype but has been suggested to be associated with a prolonged CAG repeat in the AR gene. This study includes the first epidemiologic description of the co-occurrence of hypospadias and SBMA in subjects and their male relatives in Swedish population-based health registers, as well as an additional clinical case. One boy with severe hypospadias was screened for mutations in the AR gene and was found to have 42 CAG repeats in it, which is in the full range of mutations causing SBMA later in life. We also detected a maximum of four cases displaying the combination of SBMA and hypospadias in our national register databases. This is the third case report with hypospadias in association with CAG repeat expansions in the AR gene in the full range known to cause SBMA later in life. Our findings suggest that hypospadias may be an under diagnosed feature of the SBMA phenotype and we propose that neurologists working with SBMA further investigate and report the true prevalence of hypospadias among patients with SBMA.Swedish Research Council, K2012-64X-14506-10-5Stockholm City CouncilFoundation Frimurare Barnhuset in StockholmSwedish Research Council through the Swedish Initiative for Research on Microdata in the Social And Medical Sciences (SIMSAM), 340-2013-5867Accepte

A population-based nationwide study of cruciate ligament injury in Sweden, 2001-2009: Incidence, treatment, and sex differences

Background: A few national cruciate ligament (CL) registers have been initiated with operative surveillance and outcome monitoring. No nationwide study describing CL injury has ever been done. Purpose: To study the incidence and characteristics of patients diagnosed with cruciate ligament injury in Sweden. Study Design: Descriptive epidemiology study. Methods: Data for all patients with a diagnosed CL injury between 2001 and 2009 were identified from the National Swedish Patient Register. Risk analysis and specific incidences were calculated according to age, sex, geographic region, and surgery. Results: A total number of 56,659 patients with CL injury were included in the study, and the overall incidence of CL injury in Sweden was 78 per 100,000 persons. Sixty percent of the patients were male. The mean age was 32 years (range, 1-98 years), and 50% of the cohort was younger than 30 years. There was an increased rate of injury among female patients younger than 20 years as compared with male patients in that age group. Among patients with CL injury, 36% underwent reconstructive surgery, with one-third of these performed within 1 year after injury. Among patients who underwent surgery, 59% were male; the mean age was 27 years (range, 5-89 years). Conclusion: This study defines the incidence of CL injury and also demonstrates sex differences in which men were more likely to sustain a CL injury, although female patients were injured at an earlier age. The findings in this study corroborate the results from recent surgical registers. Clinical Relevance: No data have hitherto been published including all patients with CL injury, treated both surgically and nonsurgically. Such baseline epidemiologic data are crucial to be able to validate and judge the generalizability of results from procedure registers and clinical studies. © 2012 The Author(s)

The management and survival outcomes of nasopharyngeal cancer in the Nordic countries

Peer reviewe

The clinical relevance of PCL index on the reconstruction of anterior cruciate ligament with hamstring tendon autograft

The posterior cruciate ligament index (PCL index) has been reported as a diagnostic and prognostic marker for anterior cruciate ligament (ACL) reconstruction. The clinical relevance of PCL index on the reconstruction of ACL with hamstring tendon autograft has not been described in the literature. The objective of this study is to evaluate the importance of the PCL index as a marker of anatomic reconstruction and of functional improvement of patients undergoing ACL reconstruction with HT autograft. Twenty-four patients were submitted to ACL reconstruction with HT autograft. The PCL index was assessed by magnetic resonance imaging before and after surgery. The functional evaluation was performed through the International Knee Documentation Committee (IKDC) Subjective Knee Evaluation Form© and Knee Society Knee Scoring System© (IKS). Patients presented a significant positive variation of the PCL index, IKDC and IKS scores. There is no significant correlation between PCL index variation and IKDC and IKS scores (p > 0.05). Unlike other studies reporting a relationship between the PCL index, control of rotational kinematics, and functional improvement in patients undergoing ACL reconstruction with bone-patellar tendon-bone autograft, this study does not demonstrate this association. There is evidence in this study to show that the PCL index may be used as an anatomic reconstructive marker of ACL but not to predict the clinical outcome in this type of reconstruction.(undefined

Elevated anal squamous cell carcinoma risk associated with benign inflammatory anal lesions

BACKGROUND: The association between benign anal lesions and anal cancer is still unclear. Few data from large cohort studies are available. METHODS: We conducted a register based retrospective cohort study including 45 186 patients hospitalised for inflammatory anal lesions (anal fissures, fistulas, and perianal abscesses) as well as 79 808 haemorrhoid patients, from 1965 to 2002. Multiple record linkages identified all incident anal (squamous cell carcinoma only) and colorectal cancers through to 2002. Relative risk was estimated by standardised incidence ratio (SIR), the ratio of observed number of cases divided by that expected in the age, sex, and calendar year‐matched general Swedish population. RESULTS: There was a distinct incidence peak in the first three years of follow up among patients with inflammatory lesions. SIR then levelled off at around 3 and remained at this level throughout follow up (SIR during years 3–37 of follow up was 3.3 (95% confidence interval 1.8–5.7)). A similar initial incidence peak was observed among haemorrhoid patients but was confined to the first year; SIR was 2.8 in the second year, and then it decreased further and was close to unity in the following years (SIR during years 3–37 was 1.3 (95% confidence interval 0.7–2.1)). Among inflammatory lesion and haemorrhoid patients, a significantly increased risk of colorectal cancer was observed only in the first year after hospitalisation. CONCLUSIONS: Inflammatory benign anal lesions are associated with a significantly increased long term risk of anal cancer. In contrast, haemorrhoids appear not to be a risk factor for this malignancy

A prospective study of gout and cancer

Gout patients might be at an increased risk of cancer because of obesity and heavy alcohol drinking, but uric acid has antioxidant properties, which may protect against carcinogenesis. We compared the incidence of cancer among 16 857 gout patients admitted to hospitals in Sweden during 1965-1995 with that of the national population. A total of 1425 malignant neoplasms were diagnosed in gout patients (standardized incidence ratio 1.25, 95% confidence limits 1.18, 1.31). The incidence of cancers of the oral cavity and pharynx, colon, liver and biliary tract, pancreas, lung, skin (melanoma and nonmelanoma), endometrium and kidney, as well as of malignant melanoma was increased among gout patients. With the exception of lung cancer, the risk remained elevated during the entire follow-up. This study provides no evidence of a protective effect of uric acid. Hyperuricemia may be an early manifestation of the carcinogenic process. © 2009 Wotters Kluwer Health|Lippincott Williams & Wilkins