First records of the sicklefin (Mobula tarapacana), bentfin (Mobula thurstoni), and spinetail (Mobula mobular) devil rays in the Chagos Archipelago.

Recent encounters with sicklefin (Mobula tarapacana) and bentfin (Mobula thurstoni) devil rays in the Chagos Archipelago provide the first confirmed observations of live specimens of these species in this region. Examination of illegal fishing photo archives collected during enforcement revealed these endangered species, and spinetail devil rays (Mobula mobular), are being caught within the archipelago's vast no-take marine protected area. Future cooperation between authorities and mobulid ray experts is crucial to improve the availability and accuracy of enforcement data and improve management of illegal fishing and mobulid ray conservation activities.

An Australian interpretive description of Contact Precautions through a bioethical lens; recommendations for ethically improved practice.

BACKGROUND: Contact Precautions (CP) were developed to control multi-resistant organisms (MROs) in hospitals. However, MROs persist and harms are associated with CP. Research objectives were to understand the bioethical impact of CP on patients and health-professionals, and make recommendations for ethically-improved management of MRO-colonized patients. METHODS: Interpretive description methodology scaffolded upon bioethical principles framed this qualitative study. Findings were explored alongside contemporary published reports to make recommendations for practice and research. RESULTS: Nine patients and 24 health professionals participated. Four themes were found: Powerlessness moving to acceptance; You feel a bit of a pariah; Others need protection, but I need looking after too; Doing Contact Precautions is not easy. DISCUSSION: CP conflict with the principle of respect for autonomy due to non-adherence to informed consent, and sub-optimal communication. Patients experience health care inequality, and discriminatory practices breaching the principle of justice. CP elicit stigma for patients, and moral distress and inter-personal conflict for staff, breaching the principle of non-maleficence. Under the principle of beneficence, pluralistic cost-benefit assessment situates CP as low-value practice. CONCLUSIONS: CP challenge organizational culture, professional well-being, and person-centered ethical care. Ethical costs of CP outweigh benefits, obliging policy-makers to reconsider CP in managing MRO-colonized patients.

Considering the precautionary principle and its application to MRSA and SARS-CoV-2 as emerging novel pathogens of their time.

In the 1980s Contact Precautions were introduced as a precautionary measure to control the emerging threat of antimicrobial resistance in hospitals, particularly methicillin resistant Staphylococcus aureus (MRSA). Today, antimicrobial resistance remains a concerning global public health threat, and a focus for hospital patient safety priorities. In late 2019 a novel respiratory virus described as SARS-CoV-2, was reported. Just as MRSA had prompted control measures developed in the context of limited information and understanding of the pathogen, public health control measures against SARS-CoV-2 were promptly and strictly implemented. Whilst SARS-CoV-2 control measures were successful at containing the virus, numerous detrimental socio-economic and health impacts have led to a rebalancing of harms versus benefits and loosening of restrictions. Conversely, evidence collated over the past 50 years, suggests that Contact Precautions are not superior to well-applied standard infection prevention and control precautions in controlling MRSA acquisition in hospitals. Several harms associated with Contact Precautions, affecting patient safety, financial costs, and organisational culture, are described. However, rebalancing of hospital MRSA control policies has been slow to materialise. This commentary invites infection prevention and control policy makers to reflect and revise policies for the control of MRSA in hospitals so that harms do not outweigh benefits.

Rapid development and implementation of a behaviour change strategy to improve COVID-19 personal protective equipment use in a regional Australian emergency department.

OBJECTIVE: To identify barriers to, describe the development of and evaluate the implementation of a behavioural theory informed strategy to improve staff personal protective equipment (PPE) compliance during COVID-19 in a regional Australian Emergency Department. METHODS: Barriers to PPE use were identified through staff consultation then categorised using the Theoretical Domains Framework. The Behaviour Change Wheel was used to develop a strategy to address the barriers to PPE compliance. The strategy was refined and endorsed by the site COVID taskforce. Data were collected through direct observation. Descriptive statistics were used to summarise PPE compliance and inductive content analysis for free text data of staff behaviours. RESULTS: 73 barriers were identified, mapped to 9 intervention functions and 42 behaviour change techniques. The predominant mechanisms were: (1) Executive communication reinforcing policy and consequences; (2) implementation of a PPE Marshal; (3) face to face reinforcement / modeling; (4) environmental restructuring including electronic medical record modifications. The PPE Marshal observed 281 PPE activities. PPE compliance varied between 47.9% (Buddy check) and 91.8% (Bare below elbow). The PPE Marshal intervened on 121 occasions, predominantly through buddying, explaining and demonstrating correct PPE use, most frequently with medical staff (72%). CONCLUSION: We describe an evidence-based process to overcome barriers to PPE compliance that maximize safe work practice in a time critical situation. Staff require enabling, access to equipment and reinforcement to use PPE correctly.

Association of entorhinal cortical tau deposition and hippocampal synaptic density in older individuals with normal cognition and early Alzheimer's disease.

Sites of early neuropathologic change provide important clues regarding the initial clinical features of Alzheimer's disease (AD). We have shown significant reductions in hippocampal synaptic density in participants with AD, consistent with the early degeneration of entorhinal cortical (ERC) cells that project to hippocampus via the perforant path. In this study, [11C]UCB-J binding to synaptic vesicle glycoprotein 2A (SV2A) and [18F]flortaucipir binding to tau were measured via PET in 10 participants with AD (5 mild cognitive impairment, 5 mild dementia) and 10 cognitively normal participants. In the overall sample, ERC tau was inversely associated with hippocampal synaptic density (r = -0.59, p = 0.009). After correction for partial volume effects, the association of ERC tau with hippocampal synaptic density was stronger in the overall sample (r = -0.61, p = 0.007) and in the AD group where the effect size was large, but not statistically significant (r = -0.58, p = 0.06). This inverse association of ERC tau and hippocampal synaptic density may reflect synaptic failure due to tau pathology in ERC neurons projecting to the hippocampus.

A hitchhiker guide to manta rays: Patterns of association between Mobula alfredi, M. birostris, their symbionts, and other fishes in the Maldives.

Despite being among the largest and most charismatic species in the marine environment, considerable gaps remain in our understanding of the behavioural ecology of manta rays (Mobula alfredi, M. birostris). Manta rays are often sighted in association with an array of smaller hitchhiker fish species, which utilise their hosts as a sanctuary for shelter, protection, and the sustenance they provide. Species interactions, rather than the species at the individual level, determine the ecological processes that drive community dynamics, support biodiversity and ecosystem health. Thus, understanding the associations within marine communities is critical to implementing effective conservation and management. However, the underlying patterns between manta rays, their symbionts, and other hitchhiker species remain elusive. Here, we explore the spatial and temporal variation in hitchhiker presence with M. alfredi and M. birostris throughout the Maldives and investigate the factors which may influence association using generalised linear mixed effects models (GLMM). For the first time, associations between M. alfredi and M. birostris with hitchhiker species other than those belonging to the family Echeneidae are described. A variation in the species of hitchhiker associated with M. alfredi and M. birostris was identified, with sharksucker remora (Echeneis naucrates) and giant remora (Remora remora) being the most common, respectively. Spatiotemporal variation in the presence of manta rays was identified as a driver for the occurrence of ephemeral hitchhiker associations. Near-term pregnant female M. alfredi, and M. alfredi at cleaning stations, had the highest likelihood of an association with adult E. naucrates. Juvenile E. naucrates were more likely to be associated with juvenile M. alfredi, and a seasonal trend in E. naucrates host association was identified. Remora were most likely to be present with female M. birostris, and a mean number of 1.5 ± 0.5 R. remora were observed per M. birostris. It is hoped these initial findings will serve as the basis for future work into the complex relationships between manta rays and their hitchhikers.

Environmental drivers of reef manta ray (Mobula alfredi) visitation patterns to key aggregation habitats in the Maldives.

A detailed understanding of the dynamics of small-scale (10s km) habitat use by the reef manta ray (Mobula alfredi) in the Maldives Archipelago is required to develop an effective national conservation management plan for this wide-ranging species. Here, a combination of photo-ID sightings data and acoustic telemetry were used to investigate both long-term M. alfredi visitation trends and small-scale movement patterns to key habitats on the eastern side of Baa Atoll (Hanifaru Bay feeding area, Dhigu Thila multifunctional site, and Nelivaru Thila cleaning station). All tagged and most of the sighted M. alfredi exhibited high affinity to the eastern side of Baa Atoll, where 99% of detections occurred, and 69% of individuals were re-sighted in multiple years. Sightings data suggests that visitation patterns may be associated with differences in habitat use by sex and maturity status. Boosted regression trees indicated that tag detection probability at Hanifaru Bay increased with increased westerly wind speed (>5ms-1) during the day, close to a new and full moon just after high tide, and when the tidal range was low. Interaction effects between predictors suggest that wind-driven oceanographic processes, such as Langmuir Circulation, maybe working to increase zooplankton concentration at this location. Tag detection probability increased at Dhigu Thila under similar conditions. At Nelivaru Thila, it increased at lower wind speeds (<5ms-1), close to a full moon, three hours after high tide. These results suggest that M. alfredi may utilise cleaning stations during the day when environmental conditions are not suitable for feeding. There was a high level of connectivity between these three locations, which suggests they form part of a network of key habitats that provide essential services to M. alfredi locally. Future conservation efforts should focus on identifying all areas of key habitat use for this species within the Maldives; applying strict protective measures to these sites and any connecting migration corridors which link them.

Fine-scale oceanographic drivers of reef manta ray (Mobula alfredi) visitation patterns at a feeding aggregation site.

Globally, reef manta rays (Mobula alfredi) are in decline and are particularly vulnerable to exploitation and disturbance at aggregation sites. Here, passive acoustic telemetry and a suite of advanced oceanographic technologies were used for the first time to investigate the fine-scale (5-min) influence of oceanographic drivers on the visitation patterns of 19 tagged M. alfredi to a feeding aggregation site at Egmont Atoll in the Chagos Archipelago. Boosted regression trees indicate that tag detection probability increased with the intrusion of cold-water bores propagating up the atoll slope through the narrow lagoon inlet during flood tide, potentially transporting zooplankton from the thermocline. Tag detection probability also increased with warmer near-surface temperature close to low tide, with near-surface currents flowing offshore, and with high levels of backscatter (a proxy of zooplankton biomass). These combinations of processes support the proposition that zooplankton carried from the thermocline into the lagoon during the flood may be pumped back out through the narrow inlet during an ebb tide. These conditions provide temporally limited feeding opportunities for M. alfredi, which are tied on the tides. Results also provide some evidence of the presence of Langmuir Circulation, which transports and concentrates zooplankton, and may partly explain why M. alfredi occasionally remained at the feeding location for longer than that two hours. Identification of these correlations provides unique insight into the dynamic synthesis of fine-scale oceanographic processes which are likely to influence the foraging ecology of M. alfredi at Egmont Atoll, and elsewhere throughout their range.

Association of Aß deposition and regional synaptic density in early Alzheimer's disease: a PET imaging study with [11C]UCB-J.

BACKGROUND: Attempts to associate amyloid-ß (Aß) pathogenesis with synaptic loss in Alzheimer's disease (AD) have thus far been limited to small numbers of postmortem studies. Aß plaque burden is not well-correlated with indices of clinical severity or neurodegeneration-at least in the dementia stage-as deposition of Aß reaches a ceiling. In this study, we examined in vivo the association between fibrillar Aß deposition and synaptic density in early AD using positron emission tomography (PET). We hypothesized that global Aß deposition would be more strongly inversely associated with hippocampal synaptic density in participants with amnestic mild cognitive impairment (aMCI; a stage of continued Aß accumulation) compared to those with dementia (a stage of relative Aß plateau). METHODS: We measured SV2A binding ([11C]UCB-J) and Aß deposition ([11C]PiB) in 14 participants with aMCI due to AD and 24 participants with mild AD dementia. Distribution volume ratios (DVR) with a cerebellar reference region were calculated for both tracers to investigate the association between global Aß deposition and SV2A binding in hippocampus. Exploratory analyses examined correlations between both global and regional Aß deposition and SV2A binding across a broad range of brain regions using both ROI- and surface-based approaches. RESULTS: We observed a significant inverse association between global Aß deposition and hippocampal SV2A binding in participants with aMCI (r = - 0.55, P = 0.04), but not mild dementia (r = 0.05, P = 0.82; difference statistically significant by Fisher z = - 1.80, P = 0.04). Exploratory analyses across other ROIs and whole brain analyses demonstrated no broad or consistent associations between global Aß deposition and regional SV2A binding in either diagnostic group. ROI-based analyses of the association between regional Aß deposition and SV2A binding also revealed no consistent pattern but suggested a "paradoxical" positive association between local Aß deposition and SV2A binding in the hippocampus. CONCLUSIONS: Our findings lend support to a model in which fibrillar Aß is still accumulating in the early stages of clinical disease but approaching a relative plateau, a point at which Aß may uncouple from neurodegenerative processes including synaptic loss. Future research should investigate the relationship between Aß deposition and synaptic loss in larger cohorts beginning preclinically and followed longitudinally in conjunction with other biomarkers.

Cognitively Impaired Older Persons' and Caregivers' Perspectives on Dementia-Specific Advance Care Planning.

BACKGROUND/OBJECTIVES: Advance care planning (ACP) traditionally involves asking individuals about their treatment preferences during a brief period of incapacity near the end of life. Because dementia leads to prolonged incapacity, with many decisions arising before a terminal event, it has been suggested that dementia-specific ACP is necessary. We sought to elicit the perspectives of older adults with early cognitive impairment and their caregivers on traditional and dementia-specific ACP. DESIGN: Qualitative study with separate focus groups for patients and caregivers. SETTING: Memory disorder clinics. PARTICIPANTS: Twenty eight persons aged 65+ with mild cognitive impairment or early dementia and 19 caregivers. MEASUREMENTS: Understanding of dementia trajectory and types of planning done; how medical decisions would be made in the future; thoughts about these decisions. RESULTS: No participants had engaged in any written form of dementia-specific planning. Barriers to dementia-specific ACP emerged, including lack of knowledge about the expected trajectory of dementia and potential medical decisions, the need to stay focused in the present because of fear of loss of self, disinterest in planning because the patient will not be aware of decisions, and the expectation that involved family members would take care of issues. Some patients had trouble engaging in the discussion. Patients had highly variable views on what the quality of their future life would be and on the leeway their surrogates should have in decision making. CONCLUSIONS: Even among patients with early cognitive impairment seen in specialty clinics and their caregivers, most were unaware of the decisions they could face, and there were many barriers to planning for these decisions. These issues would likely be magnified in more representative populations, and highlight challenges to the use of dementia-specific advance directive documents.

In vivo measurement of widespread synaptic loss in Alzheimer's disease with SV2A PET.

INTRODUCTION: Synaptic loss is a robust and consistent pathology in Alzheimer's disease (AD) and the major structural correlate of cognitive impairment. Positron emission tomography (PET) imaging of synaptic vesicle glycoprotein 2A (SV2A) has emerged as a promising biomarker of synaptic density. METHODS: We measured SV2A binding in 34 participants with early AD and 19 cognitively normal (CN) participants using [11 C]UCB-J PET and a cerebellar reference region for calculation of the distribution volume ratio. RESULTS: We observed widespread reductions of SV2A binding in medial temporal and neocortical brain regions in early AD compared to CN participants. These reductions were largely maintained after correction for volume loss and were more extensive than decreases in gray matter volume. CONCLUSION: We were able to measure widespread synaptic loss due to AD using [11 C]UCB-J PET. Future studies will continue to evaluate the utility of SV2A PET for tracking AD progression and for monitoring potential therapies.

Emotional touchpoints; the feelings nurses have about explaining multi-resistant organisms to colonised patients.

BACKGROUND: Nurses face challenges when providing information about multi-resistant organisms (MROs), and related hospital policies, to patients found to be colonised, and may be concerned for their own safety when caring for MRO-colonised people. Resultant emotional responses may influence behaviours of staff caring for these patients. This study aimed to identify the feelings experienced by nurses when talking about MROs with patients. Secondary objectives were to learn about staff behaviours towards MRO-colonised patients, and to explore the utility of Emotional Touchpoints methodology in this context. METHODS: A qualitative study using an adapted Emotional Touchpoints method delivered as a paper survey tool for data collection. Content analysis and inductive coding of responses was used to identify key themes. RESULTS: 53 nurses participated. 'Nervous', 'Concerned' and 'Knowledgeable' were the most commonly selected adjectives chosen to describe their feelings. Reasons for these choices were themed as 'Empowerment through knowledge', 'Performance anxiety', 'Concern for the patient' and 'Concern for professional reputation'. Social or temporal distancing, and the need for staff and other patients to be protected from contagion were key themes for the behaviours these nurses had witnessed towards patients. CONCLUSION: Talking about MROs with patients can elicit strong emotional responses in nurses, and MRO-colonised patients may be treated and spoken about in a discriminatory fashion. Infection prevention and control teams should recognise this and focus on the person rather than the pathogen when educating and supporting nurses. Recommendations for practice are made to support improved wellbeing of nurses as well as MRO colonised patients.

PET imaging of mGluR5 in Alzheimer's disease.

BACKGROUND: Metabotropic glutamate subtype 5 receptors (mGluR5) modulate synaptic transmission and may constitute an important therapeutic target in Alzheimer's disease (AD) by mediating the synaptotoxic action of amyloid-ß oligomers. We utilized the positron emission tomography (PET) radioligand [18F]FPEB to investigate mGluR5 binding in early AD. METHODS: Sixteen individuals with amnestic mild cognitive impairment (MCI) due to AD or mild AD dementia who were positive for brain amyloid were compared to 15 cognitively normal (CN) participants who were negative for brain amyloid. Diagnostic groups were well balanced for age, sex, and education. Dynamic PET scans were acquired for 60 min, starting at 60 min after the initial administration of up to 185 MBq of [18F]FPEB using a bolus-plus-constant-infusion method (Kbol = 190 min). Equilibrium modeling with a cerebellum reference region was used to estimate [18F]FPEB binding (BPND) to mGluR5. Analyses were performed with and without corrections for gray matter atrophy and partial volume effects. RESULTS: Linear mixed model analysis demonstrated a significant effect of group (p = 0.011) and the group × region interaction (p = 0.0049) on BPND. Post hoc comparisons revealed a significant reduction (43%) in mGluR5 binding in the hippocampus of AD (BPND = 0.76 ± 0.41) compared to CN (BPND = 1.34 ± 0.58, p = 0.003, unpaired t test) participants, and a nonsignificant trend for a reduction in a composite association cortical region in AD (BPND = 1.57 ± 0.25) compared to CN (BPND = 1.86 ± 0.63, p = 0.093) participants. Exploratory analyses suggested additional mGluR5 reductions in the entorhinal cortex and parahippocampal gyrus in the AD group. In the overall sample, hippocampal mGluR5 binding was associated with episodic memory scores and global function. CONCLUSIONS: [18F]FPEB-PET revealed reductions in hippocampal mGluR5 binding in early AD. Quantification of mGluR5 binding in AD may expand our understanding of AD pathogenesis and accelerate the development of novel biomarkers and treatments.

Implementation of an antimicrobial stewardship programme and reduction in carbapenemase-producing Enterobacterales in an Australian local health district.

BACKGROUND: Carbapenemase-producing Enterobacterales (CPE) are increasingly seen in Australian hospitals. Antimicrobial stewardship (AMS) interventions have been shown to reduce rates of carbapenem-resistant organisms; data on their effect on CPE rates are limited. OBJECTIVES: To explore the effect of a multi-site computer-supported AMS programme on the rates of CPE in an Australian local health district. METHODS: All laboratory CPE isolates between 2008 and 2018 were identified. Microbiological and demographic data, CPE risk factors and outcomes were collected. Monthly carbapenem use was expressed as DDD per 1000 occupied bed days (OBD). Hand hygiene compliance rates among healthcare workers were analysed. A computer-supported AMS programme was implemented district-wide in 2012. Bivariate relationships were examined using Pearson's r and predictors of CPE isolates using time series linear regression. RESULTS: We identified 120 isolates from 110 patients. Numbers of CPE isolates and carbapenem use both showed a strong downward trend during the study period; the decreases were strongly correlated (r = 0.80, P = 0.006). The positive relationship between carbapenem use and CPE isolation was maintained while adjusting for time (b = 0.05, P < 0.001). Average yearly consumption of carbapenems fell by 20%, from 18.4 to 14.7 DDD/1000 OBD following implementation of the AMS programme. Hand hygiene compliance rates remained high throughout. CONCLUSIONS: We demonstrated a reduction of CPE isolates in conjunction with reduced carbapenem use, longitudinally consolidated by a formal AMS programme. Prospective studies are needed to validate the effect of AMS on carbapenem resistance, especially in high-prevalence settings.

Follow-up on the diagnostic level of children covered by the Universal Neonatal Hearing Screening Program in Poland, divided into voivodships.

INTRODUCTION: Thanks to the Polish Universal Neonatal Hearing Screening Program (PUNHSP), all newborns in Poland undergo a free, screening hearing examination. Between 2006 and 2015, the average number of tested children per year was 373,477. According to the analysis of The Central Database (CDB), only 55.8% of the children attended the detailed hearing examinations at the second level of the Program. AIM: The aim of this study is to analyse the dates concerning the attendance of the children at the diagnostic level of PUNHSP in different regions of Poland. MATERIALS AND METHODS: To conduct an analysis of this fact and find out the reasons for low attendance at the second level in 2015, a telephone survey questionnaire was developed for parents who had not registered their babies for further consultation - 3,239 randomly selected parents. RESULTS: The analysis revealed that the number of children examined at the second diagnostic level of the program is in fact much higher than the results of The Central Database show. The actual number is 83.6% as opposed to 55.8%. As a result of the telephone questionnaire some inaccuracies in the input data to the CDB were detected. The main errors in gathering the information for the CDB were incorrect OAE test result and no examination performed. C onclusion: In Poland the worst results (i.e. questionnaire results compared to CDB) for the attendance at the diagnostic level were shown in Pomorskie, Lubelskie, Mazowieckie and Podlaskie regions. In many cases there was a large discrepancy between the reality and the information in the CDB. The improvement of clarity concerning the CDB application is important in order to minimise the possibility of malformation in the CDB.

Are Contact Precautions ethically justifiable in contemporary hospital care?

Hospital infection control practices known as Contact Precautions are recommended for the management of people with pathogens such as methicillin-resistant Staphylococcus aureus or vancomycin-resistant Enterococci. Background: The patient is isolated, and staff are required to wear gloves, and a gown or apron when providing care. A notice is displayed to remind staff of these requirements and an 'alert' message is placed in the patient's medical record. Objective: The aim of this article is to discuss and explore whether practices used in hospitals to reduce the transmission of endemic antibiotic-resistant organisms are ethically justified in today's healthcare environment in the developed world. In order to do this, the history of the development of these practices is summarised, and the evidence base for their effectiveness is reviewed. Key bioethics principles are then discussed and contextualised from the perspective of hospital infection prevention and control, and an ethically superior model for the prevention and control of healthcare associated infection is proposed.

The report of the Polish Universal Neonatal Hearing Screening Program in 2016.

The Polish Universal Neonatal Hearing Screening Program (PUNHSP) has been carried out in Poland for 14 years. The main aim of this Program is to organize hearing screening tests and to gather the information about risk factors of hearing loss in almost all newborns in Poland. It consists of 496 centers at 3 referral levels. A total of 5 458 114 children had been registered in the Central Database (CDB) of PUNHSP by the 22nd of August 2017. Bilateral sensorineural hearing loss was the most frequently appearing hearing impairment in children. It was diagnosed in 260 cases in 2016. This report presents the most important results and conclusions concerning the running of the PUNHSP in 2016.

Analysis of follow-up at the diagnostic level in the Polish Universal Neonatal Hearing Screening Programme.

Objectives Routine analysis showed that between 1 June and 30 November 2014, only 47.6% of expected follow-up visits at the diagnostic level were registered in the Polish Universal Neonatal Hearing Screening Programme central database. We attempted to detect and analyse the reasons for this low percentage. Methods A telephone survey questionnaire was developed for parents whose children had not registered for consultation at the diagnostic level, or had not received a final diagnosis according to the programme database. Questions aimed to verify the database records and compare these with information received from and given to parents. From the 7888 children not registered at the diagnostic level, 3239 records were randomly selected, i.e. 52.4% of those who had been expected to attend. Results Questions were answered by 1950 parents (60.2% of the selected group). Of these, 52.1% ( n = 734) had attended for diagnostic tests, but this was not recorded in the database. The most common reasons for not attending were the long waiting time for the visit (36.09%), lack of referral to a visit (25.9%) and conscious parent decision (16.35%). Conclusion The telephone survey disclosed omissions in database registration, and that in fact 83.6% of children had attended at the diagnostic level.

The importance of polymorphic variants of collagen 1A2 gene (COL1A2) in the development of osteopenia and osteoporosis in postmenopausal women.

OBJECTIVES: Collagen type I plays an important role in the bone matrix and is encoded by COL1A2 (collagen type I alpha 2) gene that may be a potential candidate for osteoporotic fracture. The aim of this study is to determine whether EcoRI, Del38 and PvuII polymorphisms of COL1A2 are associated with the development of osteoporosis and osteopenia in post-menopausal Polish women. Moreover, analysis of relationship between frequency of COL1A2 gene polymorphic variants and clinical parameters of bone turnover and degree of osteoporosis was performed. MATERIAL AND METHODS: The study group comprised of women with osteoporosis (n = 90), osteopenia (n = 56) and healthy individuals (n = 56). The EcoRI, Del38 and PvuII polymorphisms in COL1A2 gene were detected by PCR-RFLP method. RESULTS: In women with osteoporosis the TT genotype of EcoRI polymorphism had the lowest Z-score value compared to other genotypes (p = 0.034). In case of Del28 polymorphism, there was a statistically significant correlation between lower BMI values and the DD genotype in women with osteopenia (p = 0.041). There was no statistically significant correlation between polymorphic variants of Del28 polymorphism and clinical parameters of women with osteoporosis. The analysis of PvuII polymorphism showed that in women with osteopenia the CC genotype had the lowest body weight compared to other genotypes (p = 0.039). PvuII polymorphism and clinical parameters in the group of women with osteoporosis had no statistically significant correlations. CONCLUSIONS: The analyzed COL1A2 polymorphisms seem to be related to osteoporosis development and their particular clinical parameters. Hence, the COL1A2 polymorphism may be a genetic risk factor related to the development of osteoporosis.