Bilateral subthalamic nucleus stimulation improves health-related quality of life in Parkinsonian patients

Parkinson's disease (PD) is a common neurological disorder. Recently, bilateral deep brain stimulation (DBS) of the subthalamic nucleus (STN) has become an option in the treatment of severe PD. We measured the health-related quality of life (HRQoL) of 27 parkinsonian patients, who underwent a bilateral STN-operation. The instruments used for the evaluation of the HRQoL were the Parkinson's Disease Questionnaire (PDQ-39) and the Finnish version of the Nottingham Health Profile (NHP). We found that the quality of life significantly improved when measured with both HRQoL scales. Clinical improvement and improvement in HRQoL were positively correlated.     

Cochllear implants and GSM phone

Use of a telephone and GSM phones, in particular, was assessed by means of a postal interview sent to all adult Finnish implantees. The response rate was very high (87%). Fifty-one of the 61 respondents used a telephone and 27/61 also used a mobile phone, usually a digital phone. Two GSM phone models from Nokia (3110 and 6110) were tested with three different cochlear implant systems used by nine patients. Definite differences between the processors were found. Nucleus Spectra (two implantees) could not be used with any of the GSM phones under any test condition. Nucleus SPrint was incompatible with both GSM phone models in a poor field, while GSM phone model 6110 could be used in a good field. The Med-El Combi 40+ processor was compatible with both GSM models tested under any condition.     

Acute mountain sickness, two cases and their treatment in the field

Objective

The number of lowland dwellers traveling at high altitudes has greatly increased in recent decades. Business travelers flying to La Paz or Lhasa are at risk of altitude illnesses, similarly to miners and soldiers transported to high altitudes. Traveling to high altitude requires adaptation and if this process fails due to too rapid an ascent rate or susceptibility of the climber, acute mountain sickness (AMS) may result. Doctors and nurses in travel clinics, health centers and occupational health care clinics may face patients asking advice on how to plan their trips or manage AMS, or the health care personnel may take part in a travel to high altitude environment.

Methods

Two patients, aged 29 and 47 years, who fulfilled the criteria for AMS were studied. The clinical findings and treatment in the field are described including the review of the current recommendations for prevention and treatment of AMS.

Results

Both patients developed a severe AMS due to too rapid ascent and their denial of the symptoms.

Conclusions

Prevention is the safest and the most efficient method in the care concerning AMS. Realizing the risk of mountain sickness, active inquiry about the symptoms and correctly timed reaction to them, in other words interrupting the ascent or descending, help to reduce and even to prevent the development of serious problems.     

Gene dose effect of the DQB1*0201 allele contributes to severity of coeliac disease

Objective. Coeliac disease (CD) susceptibility has been shown to be associated with the HLA alleles DQA1*0501 and DQB1*0201. This HLA-associated risk has been estimated to account for 29–40% of the genetic component of CD. Conflicting data have been published on the gene dose effect of these HLA alleles on the risk and severity of CD. In this study the aim was to investigate the association between the number of HLA risk alleles and the severity of CD. Material and methods. Fifty-four Finnish CD families, including 144 CD patients mainly diagnosed in adulthood (94.4%), were enrolled in the study. The association between the number of DQA1*0501 and DQB1*0201 alleles and villous atrophy, symptoms and laboratory parameters at the time of diagnosis, and the association with villous atrophy after one year of treatment on a gluten-free diet were studied. Results. The homozygosity for the DQB1*0201 allele was associated with a more severe form of CD assessed by more severe villous atrophy (p=0.011), younger age (p=0.036), more severe diarrhoea (p=0.048) and a lower level of blood haemoglobin at the time of diagnosis (p=0.010). Furthermore, the homozygosity for the DQB1*0201 allele was associated with a slower recovery of villous atrophy after a gluten-free diet (p=0.041). In contrast, the DQA1*0501 allele did not have a significant association with the severity of CD. Conclusions. Our results demonstrate a gene dose effect of the DQB1*0201 allele on the clinical heterogeneity of CD and on the rate of recovery from villous atrophy in patients on a gluten-free diet.     

HLA genotyping is useful in the evaluation of the risk for coeliac disease in the 1st-degree relatives of patients with coeliac disease

OBJECTIVE: Coeliac disease (CD) is a common disease with a strong heredity. About 10-20% of 1st-degree relatives of probands develop CD. Relatives should be screened for CD, because if not treated, CD exposes patients to numerous complications. The heterogeneity of symptoms and the lifetime-spanning risk of CD render the timing of CD antibody and/or gastroscopy screenings difficult. As CD susceptibility has been shown to be strongly associated with the HLA alleles DQA1*0501 and DQB1*0201 (together encoding the DQ2 heterodimer) and DRB1*04 (associated with the DQ8 heterodimer), our aim was to investigate whether HLA genotyping might be useful in the identification of 1st-degree relatives of CD patients who do not need further screening for CD. MATERIAL AND METHODS: The study comprised 54 Finnish CD families including 54 CD probands and 382 living 1st-degree relatives. All subjects who were willing to participate were screened for CD (duodenal and skin biopsies; endomysial, reticulin and gliadin antibodies). The DQA1*0501, DQB1*0201 and DRB1*04 allele frequencies of CD patients and the 1st-degree relatives were determined. RESULTS: Altogether 17.6% (5.9% of the parents, 15.7% of the siblings, 25.8% of the offspring) of the investigated 1st-degree relatives (n = 245) did not carry any of the alleles studied. All of the CD patients (n = 136) with the exception of one (0.7%) carried at least one of the alleles investigated. CONCLUSIONS: By using the HLA genotyping a considerable proportion of 1st-degree relatives of CD probands could be excluded from further screening for CD.     

Gene dose effect of the DQB1*0201 allele contributes to severity of coeliac disease

OBJECTIVE: Coeliac disease (CD) susceptibility has been shown to be associated with the HLA alleles DQA1*0501 and DQB1*0201. This HLA-associated risk has been estimated to account for 29-40% of the genetic component of CD. Conflicting data have been published on the gene dose effect of these HLA alleles on the risk and severity of CD. In this study the aim was to investigate the association between the number of HLA risk alleles and the severity of CD. MATERIAL AND METHODS: Fifty-four Finnish CD families, including 144 CD patients mainly diagnosed in adulthood (94.4%), were enrolled in the study. The association between the number of DQA1*0501 and DQB1*0201 alleles and villous atrophy, symptoms and laboratory parameters at the time of diagnosis, and the association with villous atrophy after one year of treatment on a gluten-free diet were studied. RESULTS: The homozygosity for the DQB1*0201 allele was associated with a more severe form of CD assessed by more severe villous atrophy (p=0.011), younger age (p=0.036), more severe diarrhoea (p=0.048) and a lower level of blood haemoglobin at the time of diagnosis (p=0.010). Furthermore, the homozygosity for the DQB1*0201 allele was associated with a slower recovery of villous atrophy after a gluten-free diet (p=0.041). In contrast, the DQA1*0501 allele did not have a significant association with the severity of CD. CONCLUSIONS: Our results demonstrate a gene dose effect of the DQB1*0201 allele on the clinical heterogeneity of CD and on the rate of recovery from villous atrophy in patients on a gluten-free diet.     

Underestimated impact of novel psychoactive substances: laboratory confirmation of recreational drug toxicity in Oslo,Norway

Context: Recreational drug toxicity is frequent. Availability of new psychoactive substances is steadily increasing. However, data with verified analyses from clinical settings are limited. To evaluate the impact of novel psychoactive substances (NPS) on recreational drug toxicity in Oslo, Norway, we analysed samples from a selection of patients.

Methods: All the patients presenting with recreational drug toxicity at the Oslo Accident and Emergency Outpatient Clinic (OAEOC) and at the Oslo University Hospital (OUH) were registered from April through September 2014. Oral fluid samples were collected at the OAEOC. Blood samples were collected at the OUH. The samples were screened using ultra-high performance liquid chromatography – tandem mass spectrometry (UHPLC-MS/MS).

Results: Nine hundred and sixty-four cases were included, 841 (87.2%) at the OAEOC and 123 (12.8%) at the OUH. A total of 55 oral fluid samples (OAEOC) and 103 blood samples (OUH) could be analysed. NPS were not clinically suspected in any of the screened cases. At the outpatient clinic, the most commonly found substances were clonazepam in 42/55 (76.4%) cases, amfetamines in 40/55 (72.7%) and heroin in 39/55 (70.9%). In seven (12.7%) cases NPS were detected: 4-methylamfetamine in three cases, dimethyltryptamine in two, methylone in one, and N,N-dimethyl-3,4-methylenedioxyamfetamine in one. Among the hospital patients, the most commonly found substances were clonazepam in 51/103 (49.5%) cases, amfetamines in 48/103 (46.6%), heroin in 31/103 (30.1%), and diazepam in 30/103 (29.1%). In five (4.9%) cases NPS were detected: JWH-210 in two cases, AM-2201 in two, and 5-EAPB in one.

Conclusion: NPS were clinically not suspected, though found in eight percent of cases. Still, the vast majority of patients treated for recreational drug toxicity in Oslo have taken classical drugs. Management of these patients should be based on their clinical condition. However, it is highly important to be alert to atypical presentations possibly resulting from unsuspected drugs.     

Blood GHB concentrations and results of medical examinations in 25 car drivers in Norway

Purpose  

Information on the clinical effects associated with whole blood gamma-hydroxybutyrate (GHB) concentrations is sparse. We have investigated possible relationships between GHB blood concentrations and clinical effects in car drivers.