Analysis of 12 X-STR loci in the population of south Croatia

The aim of the study was to assess forensic pertinence of 12 short tandem repeats (STRs) on X-chromosome in south Croatia population. Investigator^® Argus X-12 kit was used to co-amplify 12 STR loci belonging to four linkage groups (LGs) on X-chromosome in 99 male and 98 female DNA samples of unrelated donors. PCR products were analyzed by capillary electrophoresis. Population genetic and forensic parameters were calculated by the Arlequin and POPTREE2 software, and an on-line tool available at ChrX-STR.org. Hardy–Weinberg equilibrium was confirmed for all X-STR markers in female samples. Biallelic patterns at DXS10079 locus were detected in four male samples. Polymorphism information content for the most (DXS10135) and the least (DXS8378) informative markers was 0.9212 and 0.6347, respectively. In both male and female samples, combined power of discrimination exceeded 0.999999999. As confirmed by linkage disequilibrium test, significant association of marker pair DXS10074-DXS10079 (P?=?0.0004) within LG2 and marker pair DXS10101-DXS10103 (P?=?0.0003) within LG3 was found only in male samples. Number of observed haplotypes in our sample pool amounted 3.01, 7.53, 5 and 3.25% of the number of possible haplotypes for LG1, LG2, LG3 and LG4, respectively. According to haplotype diversity value of 0.9981, LG1 was the most informative. In comparison of south Croatia with 26 world populations, pair-wise \({{\text{F}}_{\text{ST}}}^{\text{*}}\) values increase in parallel with geographical distance. Overall statistical assessment confirmed suitability of Investigator^® Argus X-12 kit for forensic casework in both identification and familial testing in the population of south Croatia.     

Population genetic structure of wolves in the northwestern Dinaric‐Balkan region

The Balkan Peninsula and the Dinaric Mountains possess extraordinary biodiversity and support one of the largest and most diverse wolf (Canis lupus) populations in Europe. Results obtained with diverse genetic markers show west‐east substructure, also seen in various other species, despite the absence of obvious barriers to movement. However, the spatial extent of the genetic clusters remains unresolved, and our aim was to combine fine‐scale sampling with population and spatial genetic analyses to improve resolution of wolf genetic clusters. We analyzed 16 autosomal microsatellites from 255 wolves sampled in Slovenia, Croatia, Bosnia and Herzegovina (BIH), and Serbia and documented three genetic clusters. These comprised (1) Slovenia and the regions of Gorski kotar and Lika in Croatia, (2) the region of Dalmatia in southern Croatia and BIH, and (3) Serbia. When we mapped the clusters geographically, we observed west‐east genetic structure across the study area, together with some specific structure in BIH–Dalmatia. We observed that cluster 1 had a smaller effective population size, consistent with earlier reports of population recovery since the 1980s. Our results provide foundation for future genomic studies that would further resolve the observed west‐east population structure and its evolutionary history in wolves and other taxa in the region and identify focal areas for habitat conservation. They also have immediate importance for conservation planning for the wolves in one of the most important parts of the species’ European range.     

Prevalence of Mobile Phones and Factors Influencing Usage by Caregivers of Young Children in Daily Life and for Health Care in Rural China: A Mixed Methods Study

Introduction

To capitalise on mHealth, we need to understand the use of mobile phones both in daily life and for health care.

Objective

To assess the prevalence and factors that influence usage of mobile phones by caregivers of young children.

Materials and Methods

A mixed methods approach was used, whereby a survey (N=1854) and semi-structured interviews (N=17) were conducted concurrently. The quantitative and qualitative data obtained were compared and integrated. Participants were caregivers of young children in Zhao County, Hebei Province, China.

Results

Four main themes were found: (i) trends in mobile phone ownership; (ii) usage of mobile phone functions; (iii) factors influencing replying to text messages; and (iv) uses of mobile phones for health care. The majority of 1,854 survey participants (1,620; 87.4%) used mobile phones, but usage was much higher among mothers (1,433; 92.6%) and fathers (41; 100.0%) compared to grandparents (142; 54.6%). Parents were able to send text messages, grandparents often not. Factors influencing the decision to reply to text messages in daily life were checking the mobile phone, trusting the sender, emotion or feeling when receiving a text message, the importance of replying and ease of use of text messages. Of 1,620 survey participants who used a mobile phone, about one in four (432; 26.7%) had used it for health care in the past three months and most (1,110; 93.5%) of 1,187 who had not wished to use their phone to receive health information.

Conclusion

We found that usage of mobile phones is high, several factors influencing usage and an interest of caregivers to use phones for health care in Zhao County, rural China, which can be used to inform studies in settings with similar characteristics. Future work needs to assess factors influencing mobile phone usage in-depth to optimize experiences of users for specific mHealth-based interventions.     

The impact of eHealth on the quality and safety of health care: a systematic overview

Background

There is considerable international interest in exploiting the potential of digital solutions to enhance the quality and safety of health care. Implementations of transformative eHealth technologies are underway globally, often at very considerable cost. In order to assess the impact of eHealth solutions on the quality and safety of health care, and to inform policy decisions on eHealth deployments, we undertook a systematic review of systematic reviews assessing the effectiveness and consequences of various eHealth technologies on the quality and safety of care.

Methods and Findings

We developed novel search strategies, conceptual maps of health care quality, safety, and eHealth interventions, and then systematically identified, scrutinised, and synthesised the systematic review literature. Major biomedical databases were searched to identify systematic reviews published between 1997 and 2010. Related theoretical, methodological, and technical material was also reviewed. We identified 53 systematic reviews that focused on assessing the impact of eHealth interventions on the quality and/or safety of health care and 55 supplementary systematic reviews providing relevant supportive information. This systematic review literature was found to be generally of substandard quality with regards to methodology, reporting, and utility. We thematically categorised eHealth technologies into three main areas: (1) storing, managing, and transmission of data; (2) clinical decision support; and (3) facilitating care from a distance. We found that despite support from policymakers, there was relatively little empirical evidence to substantiate many of the claims made in relation to these technologies. Whether the success of those relatively few solutions identified to improve quality and safety would continue if these were deployed beyond the contexts in which they were originally developed, has yet to be established. Importantly, best practice guidelines in effective development and deployment strategies are lacking.

Conclusions

There is a large gap between the postulated and empirically demonstrated benefits of eHealth technologies. In addition, there is a lack of robust research on the risks of implementing these technologies and their cost-effectiveness has yet to be demonstrated, despite being frequently promoted by policymakers and “techno-enthusiasts” as if this was a given. In the light of the paucity of evidence in relation to improvements in patient outcomes, as well as the lack of evidence on their cost-effectiveness, it is vital that future eHealth technologies are evaluated against a comprehensive set of measures, ideally throughout all stages of the technology''s life cycle. Such evaluation should be characterised by careful attention to socio-technical factors to maximise the likelihood of successful implementation and adoption. Please see later in the article for the Editors'' Summary     

Telehealthcare for asthma: a Cochrane review

Background:

Telehealthcare has the potential to provide care for long-term conditions that are increasingly prevalent, such as asthma. We conducted a systematic review of studies of telehealthcare interventions used for the treatment of asthma to determine whether such approaches to care are effective.

Methods:

We searched the Cochrane Airways Group Specialised Register of Trials, which is derived from systematic searches of bibliographic databases including CENTRAL (the Cochrane Central Register of Controlled Trials), MEDLINE, Embase, CINAHL (Cumulative Index to Nursing and Allied Health Literature) and PsycINFO, as well as other electronic resources. We also searched registers of ongoing and unpublished trials. We were interested in studies that measured the following outcomes: quality of life, number of visits to the emergency department and number of admissions to hospital. Two reviewers identified studies for inclusion in our meta-analysis. We extracted data and used fixedeffect modelling for the meta-analyses.

Results:

We identified 21 randomized controlled trials for inclusion in our analysis. The methods of telehealthcare intervention these studies investigated were the telephone and video- and Internet-based models of care. Meta-analysis did not show a clinically important improvement in patients’ quality of life, and there was no significant change in the number of visits to the emergency department over 12 months. There was a significant reduction in the number of patients admitted to hospital once or more over 12 months (risk ratio 0.25 [95% confidence interval 0.09 to 0.66]).

Interpretation:

We found no evidence of a clinically important impact on patients’ quality of life, but telehealthcare interventions do appear to have the potential to reduce the risk of admission to hospital, particularly for patients with severe asthma. Further research is required to clarify the cost-effectiveness of models of care based on telehealthcare.There has been an increase in the prevalence of asthma in recent decades,^1–3 and the Global Initiative for Asthma estimates that 300 million people worldwide now have the disease.⁴ The highest prevalence rates (30%) are seen in economically developed countries.^5–8 There has also been an increase in the prevalence of asthma affecting both children and adults in many economically developing and transition countries.^9–11Asthma’s high burden of disease requires improvements in access to treatments.^7,12,13 Patterns of help-seeking behaviour are also relevant: delayed reporting is associated with morbidity and the need for emergency care.It is widely believed that telehealthcare interventions may help address some of the challenges posed by asthma by enabling remote delivery of care, facilitating timely access to health advice, supporting self-monitoring and medication concordance, and educating patients on avoiding triggers.^14–16 The precise role of these technologies in the management of care for people with long-term respiratory conditions needs to be established.¹⁷The objective of this study was to systematically review the effectiveness of telehealthcare interventions among people with asthma in terms of quality of life, number of visits to the emergency department and admissions to hospital for exacerbations of asthma.     

Vagus nerve stimulation in the treatment of patients with pharmacoresistant epilepsy: our experiences

Vagus nerve stimulation (VNS) for the treatment of refractory partial epileptic seizures with or without secondary generalisation in patients older than 12 years was approved in Europe in 1994 and in the United States in 1997. We have studied the efficacy of VNS in patients with pharmacoresistant epilepsy hospitalized in the Neurology Department of the University Hospital Centre Zagreb. From 1997 to 2001 we have implanted VNS in 11 patients with pharmacoresistant epilepsy, who were magnetic resonance imaging (MRI) negative and from May 2007 to May 2009 in 11 patients with pharmacoresistant epilepsy, 9 of them were MRI positive, and were inoperable due to localisation of the pathomorphologic changes (ganglioglioma, hamartoma, various types of cortical dysplasia, porencephalic cysts), 2 were MR negative. In the group of MRI negative patients 1 patient had complex partial seizures (CPS), 6 patients had CPS with secondary generalisation, 2 patients had primary generalized epilepsy (PGE) including myoclonic, absence, atonic and tonic-clonic seizures, one patient had PGE and CPS, and 3 patients had Lennox-Gastaut syndrome (LGS). In the group of MRI positive patients one patient had elementary partial seizures (EPS) and CPS, two patients had EPS and CPS with secondary generalisation, one patient had CPS, 3 patients had CPS with secondary generalisation, and 2 patients had CPS with secondary generalisation as well as atonic seizures. After continuous follow-up of 11 MRI negative patients during 5 years and 2 MRI negative patients during one year there was decrease in mean-seizure frequency of 51.67%. After continuous follow-up of 9 MRI positive patients during 2 years there was decrease in mean-seizure frequency of 61.9%. The most frequent side effects were hoarseness, throat pain and cough in the "on phase" of the VNS, but they were mild and transitory. We can conclude that VNS was effective mode of therapy in our group of patients with pharmacoresistant epilepsy.     

Differential diagnostic performance of Rose Bengal Score Test in Sjøgren's syndrome patients

Aim of the study was to evaluate the diagnostic performance of the Rose Bengal score test for Sj?gren's syndrome (SS), and to explore differences between other tests and examinations. All participants were examined, including (but not limited to) unstimulated (UWS) and stimulated (SWS) whole saliva, labial gland biopsy (LGB or focus score), ophthalmologic questionnaire (ocular surface disease index OSDI) and objective tests: Schirmer test 1 (Sch. 1), Schirmer test 2 (Sch.2), Tear Break-up Time (TBUT) test and Rose Bengal score (RBS). Data were analyzed using Mann Whitney U-test, Receiver Operating Characteristic analysis, with specificity and sensitivity calculations and Spearman's correlation test. ROC curves showed a poor diagnostic performance of TBUT and OSDI. Sch. 1, Sch.2 and LGB all exhibited a high diagnostic performance. RBS exhibited the best performance (sensitivity 100,00; specificity 100,00; AUC 1,000). Study reveals the scarce reliability of TBUT, OSDI and Sch.1, and emphasizes RBS as the test of choice in the SS diagnosis.     

Torsion of epiploic appendage mimic acute appendicitis

Epiploic appendagitis is a rare cause of focal abdominal pain which, depending on its localisation, can mimic a variety of abdominal diseases. We report a case of 36-year-old woman who presented with a classic signs of acute appendicitis. On examination, the obese, afebrile, and had very strong right iliac fossa tenderness and guarding. The white cell count was 12.82 x 10(9)/L, and C reactive protein count was 15.13MG/DL. She underwent emergency laparoscopic procedure after the acute appendicitis diagnosis has been established. Laparoscopic exploration of the abdominal cavity showed vermiform, no inflamed, appendix and necrotic appendix epiploica of the caecum. The treatment consisted of typical laparoscopic appendectomy and laparoscopic resection of the necrotic appendix epiploica. The patient made rapid recovery and was discharged from the hospital on second day after the operation. Histological investigation of the appendix epiploica revealed gangrenous epiploic appendage.     

The application of ultrasound in neuroendoscopic procedures: first results with the new tool "NECUP-2"

In this paper, our experience with originally constructed Neurosurgical Endoscopic Contact Ultrasound Probe "NECUP-2" in neuroendoscopy is reported. Between June 1997 and June 2007, 132 neuroendoscopic procedures have been performed: 102 endoscopic thrid ventriculostomies (ETV), 15 arachnoid cysts and 5 intraventricular tumours operations. The "NECUP-2" was applied effectively in all cases in which blunt perforation was not possible: 38/102 ETY, 10/10 septostomies, 15/15 arachnoid cysts. In five cases of intraventricular tumours, neuroendoscopic procedure was combined with open microsurgery for tumour removal with preservation of vascular structures. There were no "NECUP-2" related complications. Of postoperative complications, we had liquorrhea (9 patients), and symptoms of meningitis (6 patients). In the follow-up period (6 months to 6 years), we had a patency rate of 80% (50/63 patients). All patients improved in clinical status. According to the first results, it seems that ultrasonic contact probe NECUP-2 presents a new device in neurosurgical armamentarium that can be used in various fields of neurosurgery. With minimal and controlled lesion that is produced at the tip of the probe, it can be used in highly demanding operations such as third ventriculostomy and tumour resection.     

Unexpected sudden death due to recreational swimming and diving in men in Croatia in a 14-year period

The article deals with 17 sudden deaths which occurred during recreational swimming and diving in men in Croatia in a 14-year period: from January 1, 1998 to December 31, 2011. The sample is taken out from the total number of 61 sudden deaths in men during or immediately after sport or recreational exercise. Included are also sudden deaths of 8 foreigners spending holidays at the Croatian Adriatic Coast. In all of them forensic medicine autopsy was done. Thirteen males from Croatia died during recreational swimming. Three of them were aged 15-29 yrs: one had signs of hypertrophic cardiomyopathy, the second suffered from chronic myopericarditis with left ventricular aneurysm, and the third had cardiomegaly and blood alcohol level of 1.7 per thousand. Five were aged 30-64 yrs: four of them have suffered from coronary atherosclerosis and left ventricular hypertrophy of 15-18-18-22 mm, and one with left ventricular hypertrophy drowned suddenly, probably because of malignant ventricular arrhythmia. The fifth suffered stroke and drowned. Five elderly men, aged 65-85 yrs, have suffered from coronary atherosclerosis, myocardial fibrosis or myocardial scars, and three of them had left ventricular hypertrophy of 19 mm. Four males died during recreational diving. One aged 26yrs drowned, at autopsy he had left ventricular hypertrophy of 17 mm. Three males were middle-aged: two had coronary atherosclerosis, two of them had a severe degree of coronary atherosclerosis and one had coronary atherosclerosis of medium degree but with myocardial fibrosis and left ventricular hypertrophy of 18 mm. Seven male foreigners died, five of them during swimming: two aged 30-64 and two aged 65-85. They all have had coronary atherosclerosis: one of them had an acute myocardial infarction of the posterior wall, and one hypertrophic cardiomyopathy as well. One middle-aged and one elderly man died during diving, and both had an acute myocardial infarction of the posterior wall. One elderly foreign woman died during swimming, she had coronary atherosclerosis and a myocardial scar. In Croatia, death rate during both swimming and diving in men aged 15-29 years amounted to 0.63/1,000.000 (p=1.0000); in those aged 30-64 it reached 0.56/1,000.000 (p=0.3698), and in those aged 65-85 it was 1.41/1,000.000 (p=0.1849). The death rate during swimming in men aged 15-29 amounted to 1.47/1,000.000 (p=0.9864), in men aged 30-64 it reached 0.35/1,000.000 (p=0.2245), and in those aged 65-85 it was 1.41/1,000.000 (the difference is significant, p=0.0472). The death rate during diving in men aged 15-29 was 0.16/1,000.000, and in men aged 30-64 the observed rate was 0.21/1,000.000 (p=1.0000).