The effect of acupuncture in chronic intractable epilepsy.

We examined the effect of acupuncture on epileptic seizures in humans in a controlled clinical setting. Treatment was administered by two Chinese professors of acupuncture. Effect was measured by change in seizure frequency. Twenty-nine patients with chronic intractable epilepsy completed the study. They were randomized in two groups; 15 were given classical acupuncture and 14 were given sham acupuncture. There was a reduction in seizure frequency in both groups, which did not reach a level of statistical significance. There was also an increase in the number of seizure-free weeks in both groups, which reached a level of significance in the sham group. Thus, we have not been able to prove a beneficial effect of acupuncture in chronic intractable epilepsy.     

Lymphoproliferative responses to human herpesvirus-6 variant A and variant B in healthy adults

Human herpesviurs-6 (HHV-6) isolates can be classified into variants A and B, and over 95% of people older than 2 years of age are seropositive for either or both variants. However, the prevalence of the two HHV-6 variants is still not defined since the serological methods used at present cannot discriminate one variant from the other. Lymphoproliferative responses to glycine extracted cellular antigens from human herpesvirus-6 (HHV-6) GS strain (variant A)- and Z 29 strain (variant B)-infected T-lymphoid cell lines were examined in healthy Swedish and Japanese adults. Nine of 36 (25%) persons had responses to the GS antigen, while 21/36 (58%) had responses to the Z 29 antigen (P = 0.008). Individuals with low anti–HHV-6 IgG titers (⩽320) were more likely to respond to the Z 29 antigen than to the GS antigen (P = 0.006), while there was no difference in those with high anti–HHV-6 IgG titers (⩾1280). Three of 7 Japanese adults had lymphoproliferative responses to the GS antigen compared with 6/29 Swedes (not significant), and 7/7 Japanese had lymphoproliferative responses to the Z 29 antigen compared with 14/29 Swedes (P = 0.03). Lymphoproliferative responses were neither related with the presence of HHV-6 DNA nor related with the presence of HHV-7 DNA in peripheral blood cells. These results suggest a higher prevalence of HHV-6 variant B than variant A in both Swedes and Japanese adults, and possibly a difference in either the HHV-6 virus strains and/or the nature of immune response of Swede and Japanese. J. Med. Virol. 57:134–139, 1999. © 1999 Wiley-Liss, Inc.     

Hepatocellular carcinoma in Gaucher disease: an international case series

Gaucher disease (GD) is associated with an increased risk for malignancies. Next to hematological malignancies, the development of solid tumors in several organs has been described. The liver is one of the major storage sites involved in GD pathogenesis, and is also affected by liver-specific complications. In this case series, we describe 16 GD type 1 (GD1) patients from eight different referral centers around the world who developed hepatocellular carcinoma (HCC). Potential factors contributing to the increased HCC risk in GD patients are studied. Eleven patients had undergone a splenectomy in the past. Liver cirrhosis, one of the main risk factors for the development of HCC, was present in nine out of 14 patients for whom data was available. Three out of seven examined patients showed a transferrin saturation?>?45%. In these three patients the presence of iron overload after histopathological examination of the liver was shown. Chronic hepatitis C infection was present in three of 14 examined cases. We summarized all findings and made a comparison to the literature. We recommend that GD patients, especially those with prior splenectomy or iron overload, be evaluated for signs of liver fibrosis and if found to be monitored for HCC development.     

Parental mosaicism in epilepsies due to alleged de novo variants

Severe early onset epilepsies are often caused by de novo pathogenic variants. Few studies have reported the frequency of somatic mosaicism in parents of children with severe epileptic encephalopathies. Here we aim to investigate the frequency of mosaicism in the parents of children with epilepsy caused by alleged de novo variants. We tested parental genomic DNA derived from different tissues for 75 cases using targeted next‐generation sequencing. Five parents (6.6%) showed mosaicism at minor allele frequencies of 0.8%‐29% for the pathogenic variant detected in their offspring. Parental mosaicism was observed in the following genes: SCN1A, SCN2A, SCN8A, and STXBP1. One of the identified parents had epilepsy himself. Our results show that de novo events can occur already in parental tissue and in some cases can be detected in peripheral blood. Consequently, parents affected by low‐grade mosaicism are faced with an increased recurrence risk for transmitting the pathogenic variant, compared to the overall recurrence risk for a second affected child estimated at approximately 1%. However, testing for parental somatic mosaicism will help identifying those parents who truly are at higher risk and will significantly improve genetic counseling in the respective families.     

Stroke incidence in the young: evidence from a Norwegian register study

Journal of Neurology - While there is a general agreement that stroke incidence among the elderly is declining in the developed world, there is a concern that it may be increasing among the young....     

Active Surveillance Versus Radical Prostatectomy in Favorable-risk Localized Prostate Cancer

BackgroundActive surveillance (AS) and radical prostatectomy (RP) are both accepted treatments for men with favorable-risk localized prostate cancer (PCa) (ie, clinical tumor category 1-2b, Gleason Grade Group 1-2, and prostate-specific antigen < 20 ng/mL). However, head-to-head studies comparing oncologic outcomes and survival between these 2 treatment strategies are warranted. The objective of this study was to compare the use of prostate cancer treatments and PCa death in men managed on AS and men who underwent immediate RP.Patients and MethodsThis was an observational study including 647 men on AS and 647 men treated with RP propensity score matched. We examined the 10-year cumulative incidence of salvage radiotherapy, hormonal therapy, castration-resistant PCa, and PCa death.ResultsThe 10-year curative treatment-free survival for men on AS was 61% (95% confidence interval [CI], 57%-65%). No differences in use of salvage radiotherapy (AS, 2.7%; 95% CI, 1.4%-4.1% vs. RP 5.4%; 95% CI, 3.4%-7.3%), hormonal therapy (AS, 6.9%; 95% CI, 4.4%-9.4% vs. RP, 4.1%; 95% CI, 2.5%-5.6%), developing castration-resistant PCa (AS, 1.7%; 95% CI, 0.5%-2.9% vs. RP, 2.0%; 95% CI, 0.7%-3.4%), or cumulative PCa mortality (AS, 0.4%; 95% CI, 0%-1.0% vs. RP, 0.5%; 95% CI, 0%-1.5%) were observed between the treatment strategies. The main limitation was the non-random allocation to treatment strategy.ConclusionIn this observational study on men with favorable-risk localized PCa, we found similar PCa mortality at 10 years between men on AS and men who underwent immediate RP. Moreover, there were no differences in the use of PCa therapies between the groups. Our study supports active surveillance as a treatment strategy for men with favorable-risk localized PCa.     

The reliability and validity of the Complex Task Performance Assessment: A performance-based assessment of executive function

The objective of this study was to evaluate the inter-rater reliability, test-retest reliability, concurrent validity, and discriminant validity of the Complex Task Performance Assessment (CTPA): an ecologically valid performance-based assessment of executive function. Community control participants (n?=?20) and individuals with mild stroke (n?=?14) participated in this study. All participants completed the CTPA and a battery of cognitive assessments at initial testing. The control participants completed the CTPA at two different times one week apart. The intra-class correlation coefficient (ICC) for inter-rater reliability for the total score on the CTPA was .991. The ICCs for all of the sub-scores of the CTPA were also high (.889–.977). The CTPA total score was significantly correlated to Condition 4 of the DKEFS Color-Word Interference Test (p?=??.425), and the Wechsler Test of Adult Reading (p =??.493). Finally, there were significant differences between control subjects and individuals with mild stroke on the total score of the CTPA (p?=?.007) and all sub-scores except interpretation failures and total items incorrect. These results are also consistent with other current executive function performance-based assessments and indicate that the CTPA is a reliable and valid performance-based measure of executive function.     

Vitamin D deficiency in inflammatory bowel disease: prevalence and predictors in a Norwegian outpatient population

Background and aim: Vitamin D deficiency is common in inflammatory bowel disease (IBD). The aims of the present study were to determine the prevalence of vitamin D deficiency and to identify clinical and epidemiological variables associated with vitamin D deficiency in an outpatient population with IBD.

Methods: Participants were recruited from nine hospitals in the southeastern and western regions of Norway as part of an observational, multicentre study from March 2013 to April 2014. Clinical and epidemiological data were collected by interview and from medical records. All analyses of serum 25-hydroxyvitamin D (25-OH-D) were performed in the same laboratory.

Results: In total, 49% (200/408) of the patients had a 25-OH-D concentration <50?nmol/L, including 53% (122/230) of the Crohn’s disease (CD) patients and 44% (78/178) of the ulcerative colitis (UC) patients. In CD patients, disease activity, measured as the HBI, was inversely associated with vitamin D deficiency. No such association was observed with the Simple Clinical Colitis Activity Index (SCCAI) scores in UC, but in UC patients, vitamin D deficiency was associated with elevated faecal calprotectin >100?mg/kg. In patients with CD, there were significantly more relapses during the previous year in patients with vitamin D deficiency.

Conclusions: Vitamin D deficiency was common, especially in CD, and was associated with increased disease activity, a relapsing disease course and higher inflammatory activity.