Duchenne Muscular Dystrophy Newborn Screening: Evaluation of a New GSP® Neonatal Creatine Kinase-MM Kit in a US and Danish Population.

Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked disease and is the most common pediatric-onset form of muscular dystrophy, affecting approximately 1:5000 live male births. DNA testing for mutations in the dystrophin gene confirms the diagnosis of this disorder. This study involves assessment of screening newborns for DMD using an immunoassay for muscle-type (MM) creatine kinase (CK) isoform-the GSP Neonatal CK-MM kit. Comparisons were made with CK activity determination by fluorescence measurement. In addition, the study evaluated the effect of gestational age, age of infant at time of sampling and how stable the CK-MM was over time. This assay discriminates well between normal, unaffected and Duchenne affected populations and is suitable for Duchenne newborn screening.

Excess of Radiation Burden for Young Testicular Cancer Patients using Automatic Exposure Control and Contrast Agent on Whole-body Computed Tomography Imaging.

BACKGROUND: The aim of the study was to assess patient dose from whole-body computed tomography (CT) in association with patient size, automatic exposure control (AEC) and intravenous (IV) contrast agent. PATIENTS AND METHODS: Sixty-five testicular cancer patients (mean age 28 years) underwent altogether 279 whole-body CT scans from April 2000 to April 2011. The mean number of repeated examinations was 4.3. The GE LightSpeed 16 equipped with AEC and the Siemens Plus 4 CT scanners were used for imaging. Whole-body scans were performed with (216) and without (63) IV contrast. The ImPACT software was used to determine the effective and organ doses. RESULTS: Patient doses were independent (p < 0.41) of patient size when the Plus 4 device (mean 7.4 mSv, SD 1.7 mSv) was used, but with the LightSpeed 16 AEC device, the dose (mean 14 mSv, SD 4.6 mSv) increased significantly (p < 0.001) with waist cirfumference. Imaging with the IV contrast agent caused significantly higher (13% Plus 4, 35% LightSpeed 16) exposure than non-contrast imaging (p < 0.001). CONCLUSIONS: Great caution on the use of IV contrast agent and careful set-up of the AEC modulation parameters is recommended to avoid excessive radiation exposure on the whole-body CT imaging of young patients.

A technical and clinical evaluation of a new assay for inhibin A and its use in second trimester Down syndrome screening.

BACKGROUND: The objective of the study was to compare a new AutoDELFIA® Inhibin A kit (B064-102) with the Access Inhibin A kit (A36097) using clinical specimens and to evaluate the AutoDELFIA® Inhibin A assay performance in screening for Down syndrome in the second trimester of pregnancy. METHODS: Using clinical samples, we performed a method comparison between new and existing inhibin A kits and assessed AutoDELFIA® Inhibin A kit precision performance. Normal median values for the second trimester of pregnancy were also determined. Finally, we evaluated the screening performance of the AutoDELFIA® Inhibin A kit together with other second trimester biomarkers for the detection of Down syndrome. RESULTS: The two methods showed a high degree of correlation (r=0.99, Pearson and Spearman correlation), and the average relative level difference between the methods at a concentration range of 41.7-1925 pg/mL was 19.6% [95% confidence interval (CI) from 17.6% to 21.5%]. The acceptable precision of the AutoDELFIA® Inhibin A kit was demonstrated: the within-lot CV% varied from 1.9% to 3.9%. The screening performance results show that AutoDELFIA® Inhibin A when added to a combination of other second trimester serum markers [human alpha foetoprotein (hAFP), free beta subunit of human chorionic gonadotropin (free hCGß) and unconjugated estriol (uE3) or hAFP and free hCGß] improves the detection rate of screening in both combinations. CONCLUSIONS: The performance of the AutoDELFIA® Inhibin A assay is highly acceptable for routine laboratory use for screening Down syndrome in the second trimester of pregnancy.

Adverse reaction to metal debris after Birmingham hip resurfacing arthroplasty.

BACKGROUND AND PURPOSE: Concern has emerged about local soft-tissue reactions after hip resurfacing arthroplasty (HRA). The Birmingham Hip Resurfacing (BHR) was the most commonly used HRA device at our institution. We assessed the prevalence and risk factors for adverse reaction to metal debris (ARMD) with this device. PATIENTS AND METHODS: From 2003 to 2011, BHR was the most commonly used HRA device at our institution, with 249 implantations. We included 32 patients (24 of them men) who were operated with a BHR HRA during the period April 2004 to March 2007 (42 hips; 31 in men). The mean age of the patients was 59 (26-77) years. These patients underwent magnetic resonance imaging (MRI), serum metal ion measurements, the Oxford hip score questionnaire, and physical examination. The prevalence of ARMD was recorded, and risk factors for ARMD were assessed using logistic regression models. The mean follow-up time was 6.7 (2.4-8.8) years. RESULTS: 6 patients had a definite ARMD (involving 9 of the 42 hips). 8 other patients (8 hips) had a probable ARMD. Thus, there was definite or probable ARMD in 17 of the 42 hips. 4 of 42 hips were revised for ARMD. Gender, bilateral metal-on-metal hip replacement and head size were not factors associated with ARMD. INTERPRETATION: We found that HRA with the Birmingham Hip Resurfacing may be more dangerous than previously believed. We advise systematic follow-up of these patients using metal ion levels, MRI/ultrasound, and patient-reported outcome measures.

End-of-life pain medication among cancer patients in hospice settings.

UNLABELLED: Cancer pain management in a hospice setting was studied in the present article. Drug treatments were studied at five time points: at the time of transfer to hospice, at 2nd day, two weeks, and two months following transfer to hospice care, as well as one day before death. PATIENTS AND METHODS: Records of 138 consecutive cancer patients treated in hospice in 2010 were studied regarding the drugs given during their stay. The most common cancer was gastro-intestinal cancer (33%), followed by lung (16%) and breast cancer (11%). Data were collected from patients' records and coded in a validated manner for statistical analysis. RESULTS: The median length of stay in hospice was 14 days (range=2-376 days). Upon transfer, 63% of patients were administered regularly-dosed opioids, 76.8% during the second day at hospice, and 89.9% of the patients received opioids one day prior to death. A significant change was observed in the more frequent subcutaneous administration during hospice stay (p<0.0001). Break-through pain was recorded on the second day in hospice by 52 % of patients, and by 76% on the day prior to death. CONCLUSION: Individual patients' needs determined the dose range, but this was not the case for administration route of strong opioids during hospice care.

Does alexithymia expose to mental disorder symptoms in late adolescence? A 4-year follow-up study.

OBJECTIVE: To investigate the possible causal link between alexithymia and the emergence of anxiety and depression symptoms, as well as alcohol consumption in a sample of late adolescents. METHOD: The nonclinical sample comprised late adolescents (n = 315), including both females (n = 256) and males (n = 59). The follow-up period was 4 years, and at baseline, the mean age of the subjects was 19 years (range 17-21 years). Alexithymia was measured with the 20-item Toronto Alexithymia Scale (TAS-20), depression symptoms with the short form of the Beck Depression Inventory (RBDI), anxiety with the State-Trait Anxiety Inventory (STAI) and alcohol consumption with the Alcohol Use Disorders Identification Test (AUDIT). The three TAS-20 subscales were assessed separately. Linear and cumulative logistic regression analyses were used for the evaluation of associations, and the analyses were adjusted with the corresponding baseline scores. RESULTS: The TAS-20 total and subscale scores did not predict the RBDI or AUDIT scores at follow-up. However, the TAS-20 subscale "difficulty identifying feelings" was significantly associated with both STAI-State (P = .007) and STAI-Trait (P = .004) scores at follow-up. CONCLUSIONS: Alexithymic features may be individual predictors of later anxiety symptoms. The significant differences between the various dimensions of alexithymia should be considered in future studies.

Stability of alexithymia in late adolescence: results of a 4-year follow-up study.

The aim of the present study was to assess the stability of alexithymia in adolescents and the effects of parental factors and social support thereon. The sample comprised 315 late adolescents, of whom 259 were female and 56 male. At baseline, the mean age of the subjects was 19 years (range 17-21 years). The follow-up period was 4 years (2008-2012). The 20-item Toronto Alexithymia Scale (TAS-20) was used for the assessment of alexithymia both at baseline and follow-up. The Multidimensional Scale of Perceived Social Support (MSPSS) and the Parental Bonding Instrument (PBI) were used as measures at baseline. Regarding absolute stability, the changes in the TAS-20 total scores and two subscales (DIF and EOT) were statistically significant but the effect sizes for the changes were small (Cohen׳s d 0.21-0.24). The test-retest correlations for the TAS-20 total and subscale scores were high (ρ=0.50-0.64, P<0.001), indicating relative stability. While several parental and social support variables were associated with alexithymia at baseline, low social support from friends was the only to predict higher alexithymia at follow-up. Alexithymia is a stable personality trait also in late adolescence. Low social support from friends is related to alexithymia in young adulthood.

Elective laparoscopic cholecystectomy for symptomatic uncomplicated gallstone disease: do the symptoms disappear?

BACKGROUND: Symptomatic gallstone disease is considered an indication for cholecystectomy. A considerable proportion of patients may experience persistent symptoms after surgery. The purpose of the present study was to find out the rate of symptom persistence after elective laparoscopic cholecystectomy (LC) performed for symptomatic uncomplicated gallstone disease and, in particular, to clarify whether the recurrence rate differs according to the severity of preoperative symptoms. METHODS: During a 10-year period (1992-2001), 1,101 patients underwent elective LC at Turku City Hospital for Surgery. A questionnaire concerning the intensity of preoperative symptoms, persistence of symptoms postoperatively, and overall satisfaction with the outcome of the procedure was sent to patients. A total of 677 patients [mean age (range) 59 (21-94) years; 554 (83.1%) females] with uncomplicated gallstone disease returned the completed form. RESULTS: Overall, 380 (57%) patients reported attacks of intense upper abdominal pain, and 287 (43%) reported episodic mild abdominal symptoms as the prevailing preoperative symptom. Two hundred and forty-eight (37%) patients continued to have abdominal symptoms after the operation. Among those with predominantly mild abdominal symptoms preoperatively, 119 (41%) reported the persistence of symptoms after the operation, while in the group with mainly severe upper abdominal pain attacks, 129 (33%) patients had recurrences (p = 0.052). CONCLUSIONS: According to our data, more than one-third of patients with symptomatic uncomplicated gallstone disease experienced persistent symptoms after elective LC. Patients with mild preoperative symptoms seemed to have more recurrences than those with severe symptoms, although the difference was not statistically significant.

Adverse reaction to metal debris after ReCap-M2A-Magnum large-diameter-head metal-on-metal total hip arthroplasty.

BACKGROUND AND PURPOSE: The clinical findings of adverse reaction to metal debris (ARMD) following large-diameter-head metal-on-metal total hip arthroplasty (LDH MoM THA) may include periarticular fluid collections, soft tissue masses, and gluteal muscle necrosis. The ReCap-M2a-Magnum LDH MoM THA was the most commonly used hip device at our institution from 2005 to 2012. We assessed the prevalence of and risk factors for ARMD with this device. METHODS: 74 patients (80 hips) had a ReCap-M2a-Magnum LDH MoM THA during the period August 2005 to December 2006. These patients were studied with hip MRI, serum chromium and cobalt ion measurements, the Oxford hip score questionnaire, and by clinical examination. The prevalence of ARMD was recorded and risk factors for ARMD were assessed using logistic regression models. The mean follow-up time was 6.0 (5.5-6.7) years. RESULTS: A revision operation due to ARMD was needed by 3 of 74 patients (3 of 80 hips). 8 additional patients (8 hips) had definite ARMD, but revision was not performed. 29 patients (32 hips) were considered to have a probable or possible ARMD. Altogether, 43 of 80 hips had a definite, probable, or possible ARMD and 34 patients (37 hips) were considered not to have ARMD. In 46 of 78 hips, MRI revealed a soft tissue mass or a collection of fluid (of any size). The symptoms clicking in the hip, local hip swelling, and a feeling of subluxation were associated with ARMD. INTERPRETATION: ARMD is common after ReCap-M2a-Magnum total hip arthroplasty, and we discourage the use of this device. Asymptomatic patients with a small fluid collection on MRI may not need instant revision surgery but must be followed up closely.