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1.
J Plast Reconstr Aesthet Surg ; 95: 55-61, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38875874

ABSTRACT

AIM: To compare the acute healing outcomes of Biobrane® and Epiprotect® in paediatric partial thickness (PT) burns. METHODS: All paediatric patients (age <18 years) with PT burns managed using either Biobrane® or Epiprotect® over a 5-year period at our burns unit were included. The primary outcome was time to complete healing. Secondary outcomes included adherence, infection rates, length of hospital stay, duration of acute follow-up and return to the theatre. RESULTS: Among the 99 patients included, 38 received Epiprotect® and 61 received Biobrane®. The mean total body surface area (TBSA) was 6% (range 1%-15%) and median age was 21 months (range 5-169 months). Median time to healing in the Epiprotect® group was 19.5 days and 16 days in the Biobrane® group (P = .14). The median hospitalisation length was the same for both products (2 days, P = .85). Infection rate was lower in the Epiprotect® group (2.6% vs 16.4%, P = .048). There was no difference in adherence rate. These trends were preserved when depth sub-groups were analysed. Adherence and infection rates were not affected by post-operative antibiotics (P > .99 and P = .65, respectively) in either group. The rate of return to the theatre for further surgery was 13.2% for both products (P > .99). CONCLUSION: Our findings demonstrate that acute healing outcomes with Epiprotect® in paediatric PT burns are comparable to those with Biobrane®, with significantly lower infection rates for Epiprotect®. These results suggest that Epiprotect® is a viable alternative to Biobrane®. Nevertheless, further prospective randomised studies are required to investigate the short- and long-term outcomes.

2.
Arch Dis Child ; 2024 Jun 06.
Article in English | MEDLINE | ID: mdl-38844074
3.
J Plast Reconstr Aesthet Surg ; 90: 315-322, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38394839

ABSTRACT

AIMS: To assess the aetiology, management and outcomes of cold burn injuries presenting to a regional burn unit in the United Kingdom. METHODS: Retrospective cohort study of consecutive patients over a 5-year period (2018-2022). RESULTS: Sixty-two patients (M:F 34:38; median age 23.5 years) were identified. The most common aetiology was aerosol (n = 28, 45.2%). Seven (11.5%) injuries were sustained during a social media or peer 'challenge' and 19 (31.2%) were self-harm, of whom 5 (26.3%) were inpatients on a mental health ward at the time of injury. All 'challenge' and self-harm injuries were caused by aerosol. Patients with 'challenge' injury were younger than those with self-harm (p = .007) and non-intentional injuries (p < .001). A greater proportion of self-harm injuries were in female patients compared with non-intentional injuries (p < .001). Median total body surface area (TBSA) was 0.35% (IQR: 0.3). Most burns were superficial partial thickness (n = 35, 56.5%), followed by deep dermal (n = 18, 29.0%), full-thickness (n = 8, 12.9%), and superficial (n = 1, 1.6%). The upper limb was most frequently affected (n = 35, 56.5%). Aetiology and a non-intentional, 'challenge' or self-harm injury did not affect TBSA (p = 0.776 and p = 0.364) or depth (p = 0.353 and p = 0.381). Five (8.1%) patients underwent autografting. The median time to healing was 17 days (range: 7-45, IQR: 22.75). Follow-up ranged from 1 to 173 weeks. CONCLUSIONS: The incidence of cold burns has increased when compared with previous literature. A disproportionate number of cold burns are self-inflicted using aerosols, either as self-harm or because of social media or peer 'challenges'. Other emerging aetiologies include non-intentional skin contact with nitrous oxide containers during its recreational use.


Subject(s)
Burn Units , Burns , Humans , Female , Young Adult , Adult , Cohort Studies , Retrospective Studies , United Kingdom/epidemiology , Burns/epidemiology , Burns/etiology , Burns/therapy , Aerosols
4.
JPRAS Open ; 39: 313-320, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38380183

ABSTRACT

Background: The cost-of-living crisis (CoLC) is an economic climate that the United Kingdom (UK) has been experiencing since late 2021, characterized by an increase in the price of essential goods faster than real-term incomes. Food and fuel poverty has ensued. This study aimed to assess whether the CoLC is associated with an increase in hot water bottle (HWB)-related burns as patients seek alternative heating sources to keep warm. Methods: Records of patients treated for HWB burns between December 2019 and March 2023 were reviewed for patient demographics, burn depth and surface area, patient comorbidities, and patient index of multiple deprivation (IMD). The incidence of admissions, IMD, and severity of injury were compared prior to and during the CoLC using either independent t-test or Kruskal-Wallis H test. Results: Between December 2019 and March 2023, 177 patients were treated for HWB burns, 79 prior to the CoLC, and 98 during. Of the patients, 55 patients were male and 122 females. An independent t-test comparing average monthly admissions prior and during the CoLC identified a significant difference (p = 0.042), with a mean increase of 1.85 cases (95% CI: 0.71-3.63). Additionally, a Kruskal-Wallis H test showed statistically significant difference in the number of patients treated for HWB burns between the seasons (p = 0.001). An independent t-test comparing average patient IMD prior and during the CoLC identified no difference (p = 0.33). Conclusion: The increase in HWB burns coincides with the increase in energy costs and general cost of living that has occurred in the UK since October 2021.

5.
J Affect Disord Rep ; 15: 100683, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38264626

ABSTRACT

Background: Adolescent self-harm is a vast public health concern with self-harm rates increasing each year. Looked-after adolescents are a group at increased risk of self-harm owing to adverse life-events and attachment issues, giving rise to difficulties with problem solving and relationship difficulties (Ogundele, 2020). Whilst research into risk factors of self-harm is plentiful, fewer studies have explored what factors might facilitate self-harm recovery. This paper investigates whether looked-after adolescents with experience of self-harm can experience cognitions and emotions related to post-traumatic growth (PTG). Methods: Secondary Data Analysis was conducted on a primary qualitative data set from a study including twenty-four looked-after young people aged between 14 and 21 with experience of self-harm; 20 females and 4 males. An Interpretive Phenomenological Analysis was conducted. Results: Five themes were identified, four of which shared similarities to prior research into the recovery of self-harm and manifestations of PTG: 1) Self-Reflection, 2) Communication, 3) Embracing and Appreciating Support, 4) Better Management of feelings. The fifth theme suggested a potential barrier to experiencing PTG; 5) Reliance on Self-Harm. Findings revealed four relevant themes suggesting that individuals who self-harm can indeed experience cognitions and emotions relevant to PTG. Limitations: This study utilised a homogeneous sample, limiting the generalisability of the findings to other populations. Perhaps future research should consider other populations of individuals who self-harm. Conclusions: We suggest there is a need for interventions for self-harm to focus on protective factors to increase PTG within an individual, potentially moderating the risk of suicide.

6.
Am J Hosp Palliat Care ; : 10499091231210504, 2023 Oct 25.
Article in English | MEDLINE | ID: mdl-37879089

ABSTRACT

Medical care received at end-of-life is often not aligned with individuals' values and care preferences. Much can get in the way of an individual communicating and documenting their preferences to care providers and close others, even if it is a goal to do so. The objective of this work was to develop a measure of Advance Care Planning Self-Efficacy (ACP SE) focused on three important behaviors: completing a living will, documenting a healthcare agent, and discussing quality versus quantity of life issues. Measure development was framed by the Transtheoretical Model (TTM) of behavior change. Following the completion of focus groups and formative qualitative work, an independent sample (N = 310, adults aged 50+) was randomly split into two halves for exploratory and confirmatory factor analyses (EFA/CFA). Multivariate analyses examined relationships between ACP SE and other TTM constructs. Results of the CFA demonstrated excellent internal consistency (α = .95) and good model fit (CFI = .89, RMSEA = .13). Self-efficacy was framed by the TTM as situation-specific confidence. Through the measure development process, it was found that confidence to do ACP was impacted by various situational and attitudinal variables. ACP Self-Efficacy was found to differ significantly by Stage of Change. This study produced a reliable and valid measure of situation-specific confidence for ACP grounded within the TTM that could enhance future interventions aimed at increasing participation in ACP.

7.
J Cogn Neurosci ; 35(1): 44-48, 2022 12 01.
Article in English | MEDLINE | ID: mdl-36306261

ABSTRACT

The transition to principal investigator (PI), or lab leader, can be challenging, partially due to the need to fulfil new managerial and leadership responsibilities. One key aspect of this role, which is often not explicitly discussed, is creating a supportive lab environment. Here, we present ten simple rules to guide the new PI in the development of their own positive and thriving lab atmosphere. These rules were written and voted on collaboratively, by the students and mentees of Professor Mark Stokes, who inspired this piece.

8.
J Plast Reconstr Aesthet Surg ; 74(11): 3080-3086, 2021 11.
Article in English | MEDLINE | ID: mdl-34303636

ABSTRACT

BACKGROUND: Despite the ubiquity of hand trauma, there remains insufficient published data to reliably inform these patients of surgical site infection (SSI) risk. We describe the risk of SSI in a single-centre cohort of patients with hand trauma, with an analysis of the impact of the coronavirus disease-2019 (COVID-19) pandemic. METHODS: Retrospective data collection of consecutive patients who underwent surgery for hand and wrist trauma in a single plastic surgery centre over two, three-month periods. Demographic, injury and operative details, alongside prophylactic antibiotic use, were recorded. Burn injuries and wounds infected at presentation were excluded. Presence of SSI at 30 days (90 days if a surgical implant was used) was assessed. RESULTS: Overall, 556 patients - 'Pre-COVID-19' (n = 310) and 'During COVID-19' (n = 246) - were included. Risk of SSI was 3.6% in the aggregated cohort. Female patients were more likely to develop an SSI, even when adjusted for their greater prevalence of bite aetiologies (adj OR 2.5; 95% CI, 1.00-6.37 and p < 0.05). The absolute risk of SSI in the 'Pre-COVID-19' group was 2.3% and 5.3% in the 'During COVID-19' group. The relative risk of developing an SSI in the 'During COVID-19' group was 2.34 (95% CI, 0.95-5.78 and p = 0.06). Baseline characteristics were equivalent between the two groups. CONCLUSION: The risk of SSI in hand trauma is the same as the nationally estimated risk for all surgeries; 3-5%. Changes in presentation and practice associated with the first wave of the COVID-19 pandemic did not appear to alter the risk of SSI in patients undergoing surgery for hand trauma.


Subject(s)
COVID-19/epidemiology , Hand Injuries/surgery , Surgical Wound Infection/epidemiology , Wrist Injuries/surgery , Adult , Cohort Studies , Female , Hand Injuries/epidemiology , Humans , Interrupted Time Series Analysis , Male , Middle Aged , Pandemics , Retrospective Studies , United Kingdom/epidemiology , Wrist Injuries/epidemiology , Young Adult
9.
Genet Med ; 23(9): 1779-1782, 2021 09.
Article in English | MEDLINE | ID: mdl-33879870

ABSTRACT

PURPOSE: The LZTR1 gene has been associated with schwannomatosis tumor predisposition and is located in a region that is deleted in the great majority (89%) of patients with 22q11.2 deletion syndrome (22q11.2DS). Since it is known that approximately 1 in 500 people in the general population will develop a sporadic schwannoma and there are no reports of the occurrence of schwannoma in 22q11.2DS, we investigated whether whole-gene deletion of LZTR1 occurs in schwannomatosis and assessed the risk of schwannoma in 22q11.2DS. METHODS: We assessed the genetic testing results for LZTR1-associated schwannomatosis and the clinical phenotypes of patients with 22q11.2DS. RESULTS: There were no reports of schwannoma in over 1,500 patients with 22q11.2DS. In addition, no patients meeting clinical diagnostic criteria for schwannomatosis had a whole-gene deletion in LZTR1. Only 1 patient in 110 with an apparently sporadic vestibular schwannoma had a constitutional whole-gene deletion of LZTR1. CONCLUSION: People with a large 22q11.2 deletion may have a reduced risk of developing a schwannoma compared to the general population.


Subject(s)
DiGeorge Syndrome , Marfan Syndrome , Neurilemmoma , Neurofibromatoses , Neuroma, Acoustic , Humans , Neurilemmoma/epidemiology , Neurilemmoma/genetics , Transcription Factors
10.
AJOB Empir Bioeth ; 12(1): 33-40, 2021.
Article in English | MEDLINE | ID: mdl-32976069

ABSTRACT

Electronic institutional review board systems (eIRBs) have become an integral component in ensuring compliance with Human Research Protection Program (HRPP) and IRB requirements. Despite this, few of these systems are configured to administer the single IRB (sIRB) process mandated by the National Institutes of Health (NIH) for multisite research. We interviewed 103 sIRB administrators, chairs, members, and staff members about their experiences with sIRB multisite research review. We observed three main obstacles to adapting existing eIRB systems to accommodate the sIRB process: (1) Existing systems are not designed for sIRBs and are not configured to administer sIRB responsibilities, (2) they are not interoperable, and (3) resources to improve existing systems are lacking. Our findings suggest that IRBs that act as an sIRB will need major changes to their electronic systems in order to accommodate sIRB processes. These difficulties threaten both the ability of IRBs to focus on ethical rather than bureaucratic problems and the efficiency of multisite trials.


Subject(s)
Biomedical Research/ethics , Ethics Committees, Research , Information Systems , Multicenter Studies as Topic , Electronics , Ethics, Research , Humans , National Institutes of Health (U.S.) , Social Control, Formal , United States
11.
Air Med J ; 39(3): 218-220, 2020.
Article in English | MEDLINE | ID: mdl-32540116

ABSTRACT

Cardiac point-of-care ultrasound (POCUS) is a quick and accurate tool to assess a patient's cardiovascular and hemodynamic status by measuring the E-point septal separation (EPSS) and left ventricular ejection fraction. The case presented here highlights the potential for increased use of POCUS to guide resuscitation in the prehospital setting and during critical care transport. A 56-year-old male presented to a rural emergency department with chest pain and was found to have an inferior STelevation myocardial infarction (STEMI). Local helicopter air ambulance was called to transport the patient to a facility capable of cardiac catheterization. In route, the flight physician performed a cardiac POCUS exam which revealed decreased cardiac perfusion, a hypokinetic inferior wall, and overall decreased contractility. EPSS was measured at 0.77cm, indicating moderate left ventricular ejection fraction (LVEF) reduction. A cardiac left ventriculogram later confirmed a 40% ejection fraction as well as wall motion abnormalities of the inferior wall. The patient was found to have 100% occlusion of the right coronary artery that was revascularized with balloon angioplasty and a drug-eluting stent. He ultimately did well and was discharged home.


Subject(s)
Air Ambulances , Cardiac Output , Point-of-Care Systems , Ultrasonography/standards , Humans , Male , Middle Aged
12.
J Plast Reconstr Aesthet Surg ; 73(9): 1593-1603, 2020 Sep.
Article in English | MEDLINE | ID: mdl-32475735

ABSTRACT

INTRODUCTION: Vascularised composite allotransplantation (VCA) permits like-for-like reconstruction following extensive soft tissue injuries. The initial management of extensive soft tissue injury can lead to the development of anti-HLA antibodies through injury-related factors, transfusion and cadaveric grafting. The role of antibody-mediated rejection, donor-specific antibody formation and graft rejection in the context of VCA remains unclear. This systematic review aimed to determine whether pre-transplant management strategies influence immunological outcome following VCA. METHODS: A systematic review of MEDLINE, EMBASE and CINAHL using a PRISMA-compliant methodology up to February 2019 was conducted. Pre-transplant, procedural and long-term outcome data were collected and recorded for all VCA recipients on an individual patient basis. RESULTS: The search revealed 3,847 records of which 114 met inclusion criteria and reported clinical data related to 100 patients who underwent 129 VCA transplants. Trauma (50%) and burns (15%) were the most frequent indications for VCA. Of all 114 studies, only one reported acute resuscitative management. Fifteen patients were sensitised prior to reconstructive transplantation with an 80%%incidence of acute rejection in the first post-operative year. Seven patients demonstrated graft vasculopathy, only one of whom had demonstrated panel reactive antibodies. CONCLUSIONS: Currently employed acute management strategies may predispose to the development of anti-HLA antibodies, adding to the already complex immunological challenge of VCA. To determine whether association between pre-transplant management and outcomes exists, further refinement of international registries is required.


Subject(s)
HLA Antigens/immunology , Vascularized Composite Allotransplantation , Burns/surgery , Graft Rejection/immunology , Humans , Immune Tolerance , Soft Tissue Injuries/surgery , Surgical Wound Infection/etiology
13.
Environ Sci Process Impacts ; 22(3): 740-750, 2020 Mar 01.
Article in English | MEDLINE | ID: mdl-32003373

ABSTRACT

Process understanding of microbial communities containing organohalide-respiring bacteria (OHRB) is important for effective bioremediation of chlorinated ethenes. The impact of iron and sulfate reduction on cis-1,2-dichloroethene (cDCE) and vinyl chloride (VC) dechlorination by a consortium containing the OHRB Dehalococcoides spp. was investigated using multiphase batch experiments. The OHRB consortium was found to contain endogenous iron- and sulfate-reducing bacteria (FeRB and SRB). A biogeochemical model was developed and used to quantify the mass transfer, aquatic geochemical, and microbial processes that occurred in the multiphase batch system. It was determined that the added SRB had the most significant impact on contaminant degradation. Addition of the SRB increased maximum specific substrate utilization rates, kmax, of cDCE and VC by 129% and 294%, respectively. The added FeRB had a slight stimulating effect on VC dechlorination when exogenous SRB were absent, but when cultured with the added SRB, FeRB moderated the SRB's stimulating effect. This study demonstrates that subsurface microbial community interactions are more complex than categorical, guild-based competition for resources such as electron donor.


Subject(s)
Dichloroethylenes/chemistry , Vinyl Chloride , Bacteria , Biodegradation, Environmental , Iron , Sulfates
14.
Ethics Hum Res ; 42(1): 36-40, 2020 Jan.
Article in English | MEDLINE | ID: mdl-31967411

ABSTRACT

In response to a policy of the National Institutes of Health and requirements in the revised Common Rule, a protocol for a multisite study must be reviewed by a single institutional review board (IRB), rather than by the IRB at each study site. The goal of the single IRB approach is to increase the efficiency of IRB review of multisite research without jeopardizing protections for research subjects. Yet the extent to which these joint goals are being achieved is unclear. To better understand how single IRBs function, we recruited academic, government, and commercial single IRBs (N = 49) to participate in a study involving observation of protocol review meetings and/or interviews with their members, chairs, and administrators. Twenty (40.8%) agreed to participate, of which 50% agreed to both interviews and observation. While 81.8% (9/11) of academic and 50% (4/8) of government single IRBs participated in some way, only 23.3% (7/30) of commercial single IRBs did so. The four largest commercial single IRBs declined to participate. Because evaluation of single IRBs is important to inform development, implementation, monitoring, and refinement of federal policies, single IRBs should be encouraged to participate in research that examines how they function.


Subject(s)
Conflict of Interest , Ethics Committees, Research/organization & administration , National Institutes of Health (U.S.)/standards , Research/standards , Humans , Interviews as Topic , National Institutes of Health (U.S.)/organization & administration , Research/organization & administration , United States
15.
Burns ; 46(3): 514-519, 2020 05.
Article in English | MEDLINE | ID: mdl-31230799

ABSTRACT

A rise in the current trend of corrosive substance attacks have been reported in the UK, causing devastating effects on victims. The optimal management of these patients requires the specialist skills of the burn multidisciplinary team (MDT) to address the resulting physical and psychological trauma experienced. However, burn care must commence in the pre-hospital setting. The public and first responders are invaluable resources in helping to limit the adverse effects of burns. Challenges of burn care outside the Burns Unit are not limited to the treatment of the injured patient and the rehabilitation of survivors. These challenges also encompass better education of the public and allied health professionals, as well as planning strategies to reduce the incidence of acid attacks. Prevention is always better than cure. This paper discusses the broadening of the MDT to improve outcomes in acid attacks by exploring the wider roles of the public, media, emergency services, police, legislation and better education.


Subject(s)
Burns, Chemical/therapy , Caustics/toxicity , First Aid , Violence , Allied Health Personnel , Burns, Chemical/physiopathology , Burns, Chemical/psychology , Domestic Violence , Emergency Medical Services , Emergency Responders , Health Education , Humans , Mass Media , Patient Care Team , Racism , United Kingdom , Violence/prevention & control
16.
J Interprof Care ; 34(6): 784-790, 2020.
Article in English | MEDLINE | ID: mdl-31851543

ABSTRACT

There is a growing necessity for healthcare professionals to collaborate across disciplines in order to adequately treat patients. Interprofessional education (IPE) is one strategy that can be used to strengthen student attitudes, skill mastery, and preparedness toward working in interprofessional teams prior to joining the healthcare workforce. The current study evaluated the effects of a four-session IPE training program for students from four New England universities across nine different health professions. Participants (N = 46) were placed into teams to create an assessment plan, evaluated their patient volunteer, developed a treatment plan, and presented treatment plan decisions to the group. Students reported attitudes, skills and readiness to work on interprofessional teams before and after the training; additionally, students completed a free-response posttest questionnaire. Paired samples t-tests, repeated measures ANCOVA, and thematic analysis were conducted to analyze the data. Results showed that following program completion, participants expressed more positive attitudes toward team collaboration and demonstrated higher skill mastery to function within healthcare teams. The presence of prior IPE experience did not positively or negatively influence changes in attitudes, skills, or readiness from pretest to posttest. Results suggest that this IPE program demonstrated preliminary feasibility and effectiveness by actively improving the attitudes and skills of healthcare students to engage in interprofessional teamwork.


Subject(s)
Interprofessional Education , Students, Health Occupations , Attitude of Health Personnel , Cooperative Behavior , Health Occupations , Humans , Interprofessional Relations , Patient Care Team
17.
J Contam Hydrol ; 227: 103551, 2019 Dec.
Article in English | MEDLINE | ID: mdl-31526529

ABSTRACT

The extent, mechanism(s), and rate of chlorinated ethene degradation in a large tetrachloroethene (PCE) plume were investigated in an extensive sampling campaign. Multiple lines of evidence for this degradation were explored, including compound-specific isotope analysis (CSIA), dual C-Cl isotope analysis, and quantitative real-time polymerase chain reaction (qPCR) analysis targeting the genera Dehalococcoides and Dehalogenimonas and the genes vcrA, bvcA, and cerA. A decade prior to this sampling campaign, the plume source was thermally remediated by steam injection. This released dissolved organic carbon (DOC) that stimulated microbial activity and created reduced conditions within the plume. Based on an inclusive analysis of minor and major sampling campaigns since the initial site characterization, it was estimated that reduced conditions peaked 4 years after the remediation event. At the time of this study, 11 years after the remediation event, the redox conditions in the aquifer are returning to their original state. However, the DOC released from the remediated source zone matches levels measured 3 years prior and plume conditions are still suitable for biotic reductive dechlorination. Dehalococcoides spp., Dehalogenimonas spp., and vcrA, bvcA, and cerA reductive dehalogenase genes were detected close to the source, and suggest that complete, biotic PCE degradation occurs here. Further downgradient, qPCR analysis and enriched δ13C values for cis-dichloroethene (cDCE) suggest that cDCE is biodegraded in a sulfate-reducing zone in the plume. In the most downgradient portion of the plume, lower levels of specific degraders supported by dual C-Cl analysis indicate that the biodegradation occurs in combination with abiotic degradation. Additionally, 16S rRNA gene amplicon sequencing shows that organizational taxonomic units known to contain organohalide-respiring bacteria are relatively abundant throughout the plume. Hydraulic conductivity testing was also conducted, and local degradation rates for PCE and cDCE were determined at various locations throughout the plume. PCE degradation rates from sampling campaigns after the thermal remediation event range from 0.11 to 0.35 yr-1. PCE and cDCE degradation rates from the second to the third sampling campaigns ranged from 0.08 to 0.10 yr-1 and 0.01 to 0.07 yr-1, respectively. This is consistent with cDCE as the dominant daughter product in the majority of the plume and cDCE degradation as the time-limiting step. The extensive temporal and spatial analysis allowed for tracking the evolution of the plume and the lasting impact of the source remediation and illustrates that the multiple lines of evidence approach is essential to elucidate the primary degradation mechanisms in a plume of such size and complexity.


Subject(s)
Groundwater , Tetrachloroethylene , Water Pollutants, Chemical , Biodegradation, Environmental , Ethylenes , RNA, Ribosomal, 16S
18.
Am J Med Genet C Semin Med Genet ; 181(4): 502-508, 2019 12.
Article in English | MEDLINE | ID: mdl-31479583

ABSTRACT

Sotos syndrome is an overgrowth-intellectual disability (OGID) syndrome caused by NSD1 pathogenic variants and characterized by a distinctive facial appearance, an intellectual disability, tall stature and/or macrocephaly. Other associated clinical features include scoliosis, seizures, renal anomalies, and cardiac anomalies. However, many of the published Sotos syndrome clinical descriptions are based on studies of children; the phenotype in adults with Sotos syndrome is not yet well described. Given that it is now 17 years since disruption of NSD1 was shown to cause Sotos syndrome, many of the children first reported are now adults. It is therefore timely to investigate the phenotype of 44 adults with Sotos syndrome and NSD1 pathogenic variants. We have shown that adults with Sotos syndrome display a wide spectrum of intellectual ability with functioning ranging from fully independent to fully dependent. Reproductive rates are low. In our cohort, median height in adult women is +1.9 SD and men +0.5 SD. There is a distinctive facial appearance in adults with a tall, square, prominent chin. Reassuringly, adults with Sotos syndrome are generally healthy with few new medical issues; however, lymphedema, poor dentition, hearing loss, contractures and tremor have developed in a small number of individuals.


Subject(s)
Phenotype , Sotos Syndrome/physiopathology , Adult , Child , Facies , Female , Humans , Intellectual Disability/genetics , Male , Sotos Syndrome/genetics , Sotos Syndrome/psychology
19.
Medicine (Baltimore) ; 98(27): e16274, 2019 Jul.
Article in English | MEDLINE | ID: mdl-31277153

ABSTRACT

This study aimed to investigate the recognition rate of psychological distress in general hospitals in China and to examine the main associated factors.Using a cross-sectional study design, the questionnaires were administered to a total of 1329 inpatients from a tertiary hospital. The Patient Health Questionnaire-9 (PHQ-9), the Generalized Anxiety Disorder 7-item scale (GAD-7), the Patient Health Questionnaire (PHQ-15) and the Whiteley-7 (WI-7) were used to assess patients' mental health status. Two subjective questions were used to identify the awareness of psychological distress in patients and doctors.The frequency of psychological distress measured by the questionnaires was high in our sample (53.4%). However, the recognition rates of both patients (34.9%) and by doctors (39.1%) was low. The concordance rate between patients and doctors of whether the patient had psychological distress or not was extremely poor (Kappa = 0.089, P = .001). Factors associated with the poor concordance rate included patients' annual household income and clinically significant self-reported symptoms of anxiety and hypochondriasis.The recognition rate of psychological distress was underestimated and this may be related to a lack of awareness of mental disturbances and patients' low annual household income.


Subject(s)
Anxiety/epidemiology , Hospitals, General/statistics & numerical data , Physicians/psychology , Quality of Life , Stress, Psychological/epidemiology , Workload/psychology , Adult , Aged , Anxiety/etiology , Anxiety/psychology , China/epidemiology , Cross-Sectional Studies , Female , Humans , Incidence , Male , Middle Aged , Psychiatric Status Rating Scales , Severity of Illness Index , Socioeconomic Factors , Stress, Psychological/complications , Surveys and Questionnaires
20.
Water Res ; 160: 484-496, 2019 Sep 01.
Article in English | MEDLINE | ID: mdl-31177078

ABSTRACT

The rate at which organic contaminants can be degraded in aquatic environments is not only dependent upon specific degrading bacteria, but also upon the composition of the microbial community, mass transfer of the contaminant, and abiotic processes that occur in the environment. In this study, we present three-phase batch experiments of tetrachloroethene (PCE) degradation by a consortium of organohalide-respiring bacteria, cultivated alone or in communities with iron- and/or sulfate-reducers. We developed a modeling approach to quantitatively evaluate the experimental results, comprised of chemical and biomolecular time series data. The model utilizes the IPhreeqc module to couple multi-phase mass transfer between gaseous, organic and aqueous phases with microbial and aquatic geochemical processes described using the geochemical code PHREEQC. The proposed approach is able to capture the contaminant degradation, the microbial population dynamics, the effects of multi-phase kinetic mass transfer and sample removal, and the geochemical reactions occurring in the aqueous phase. The model demonstrates the importance of aqueous speciation and abiotic reactions on the bioavailability of the substrates. The model-based interpretation allowed us to quantify the reaction kinetics of the different bacterial guilds. The model further revealed that the inclusion of sulfate-reducing bacteria lowers the rate of PCE degradation and that this effect is moderated in the presence of iron-reducing bacteria.


Subject(s)
Tetrachloroethylene , Water Pollutants, Chemical , Biodegradation, Environmental , Biological Assay , Sulfates
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