Global epidemiology of geriatric burns, capacities of care, and injury outcomes: Perspectives from the World Health Organization global burn registry.

BACKGROUND: An increasing aging population alongside a potentially increasing injury risk emphasizes a critical need for evidence-based burn care regarding preventive and therapeutic strategies tailored to the unique needs of older adults. However, we note a critical gap in understanding geriatric burn trends on a global scale and the care capacity across settings. Thus, this study sought to ascertain the global trend of geriatric burns with a focus on patient demographics, injury characteristics, capacities of care, and injury outcomes. METHODS: A retrospective design focusing on older adults aged ≥ 60 years with burns recorded in the World Health Organization Global Burn Registry as of 31st May 2023 was employed. Descriptive statistics were employed to analyze the data. RESULTS: Of the 9277 records obtained from the Global Burn Registry, 849 participants (9.2%) were aged ≥ 60 years with the majority of these reported from the Eastern Mediterranean (EMRO) and Southeast Asia (SEARO) regions. More females than males were involved in burn injuries with the most common aetiological factor being flame. Most burns occurred in the home/ domestic setting with a seasonal variation (more injuries occurred in December and January). In terms of burn care capacity, the data suggest the availability of specialized services in most settings albeit the AFRO and SEARO regions still lacked the resources to offer specialized burn care. While most injured older adults were discharged home with no physical impairment (395, 46.5%), a substantial number died (250, 29.4%) during hospitalization, particularly in the African (AFRO) region and 111 (11.1%) left the facility against medical advice with the majority from the SEARO region (88). CONCLUSION: Burn injuries in older adults remain a public health issue. On the preventive aspect, the results demonstrate a need to intensify safety in the home or domestic setting, and during festive seasons. Therapeutically, the findings underscore a need to consider the inclusion of more specialist geriatric and palliative care services in the burn management process. Additionally, we identified a need to strengthen burn care capacity in the AFRO and SEARO regions.

Nutrition education programs for burn survivors: A scoping review.

Background: Despite the importance of nutrition education for burn survivors, only limited work has been done to ascertain what is known about these education programs. Aim: To scope the existing literature to ascertain what is known about the nature and outcomes associated with nutrition education programs for burn survivors, their families and caregivers. Methods: Arksey and O'Malley scoping review approach were utilized with searches across peer-reviewed databases and gray literature sources. Results: Six studies were retained. Five studies focused on burn survivors and one focused on healthcare professionals. One study reported improved knowledge regarding postburn nutritional support following the implementation of the nutrition counseling program. Three studies reported on the inclusion of a nutrition education component in comprehensive postdischarge rehabilitation programs albeit no nutrition-specific outcomes were reported. Conclusion: The review affirms the limited literature, highlighting a need for more work to implement and evaluate outcomes of nutrition education programs for burn survivors.

Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate.

Novel or rare damaging mutations have been implicated in the developmental pathogenesis of nonsyndromic cleft lip with or without cleft palate (nsCL ± P). Thus, we investigated the human genome for high-impact mutations that could explain the risk of nsCL ± P in our cohorts.We conducted next-generation sequencing (NGS) analysis of 130 nsCL ± P case-parent African trios to identify pathogenic variants that contribute to the risk of clefting. We replicated this analysis using whole-exome sequence data from a Brazilian nsCL ± P cohort. Computational analyses were then used to predict the mechanism by which these variants could result in increased risks for nsCL ± P.We discovered damaging mutations within the AFDN gene, a cell adhesion molecule (CAMs) that was previously shown to contribute to cleft palate in mice. These mutations include p.Met1164Ile, p.Thr453Asn, p.Pro1638Ala, p.Arg669Gln, p.Ala1717Val, and p.Arg1596His. We also discovered a novel splicing p.Leu1588Leu mutation in this protein. Computational analysis suggests that these amino acid changes affect the interactions with other cleft-associated genes including nectins (PVRL1, PVRL2, PVRL3, and PVRL4) CDH1, CTNNA1, and CTNND1.This is the first report on the contribution of AFDN to the risk for nsCL ± P in humans. AFDN encodes AFADIN, an important CAM that forms calcium-independent complexes with nectins 1 and 4 (encoded by the genes PVRL1 and PVRL4). This discovery shows the power of NGS analysis of multiethnic cleft samples in combination with a computational approach in the understanding of the pathogenesis of nsCL ± P.

Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.

The majority (85%) of nonsyndromic cleft lip with or without cleft palate (nsCL/P) cases occur sporadically, suggesting a role for de novo mutations (DNMs) in the etiology of nsCL/P. To identify high impact protein-altering DNMs that contribute to the risk of nsCL/P, we conducted whole-genome sequencing (WGS) analyses in 130 African case-parent trios (affected probands and unaffected parents). We identified 162 high confidence protein-altering DNMs some of which are based on available evidence, contribute to the risk of nsCL/P. These include novel protein-truncating DNMs in the ACTL6A, ARHGAP10, MINK1, TMEM5 and TTN genes; as well as missense variants in ACAN, DHRS3, DLX6, EPHB2, FKBP10, KMT2D, RECQL4, SEMA3C, SEMA4D, SHH, TP63, and TULP4. Many of these protein-altering DNMs were predicted to be pathogenic. Analysis using mouse transcriptomics data showed that some of these genes are expressed during the development of primary and secondary palate. Gene-set enrichment analysis of the protein-altering DNMs identified palatal development and neural crest migration among the few processes that were significantly enriched. These processes are directly involved in the etiopathogenesis of clefting. The analysis of the coding sequence in the WGS data provides more evidence of the opportunity for novel findings in the African genome.

Exploring the Background, Context, and Stressors of Caregiving to Elderly Burned Patients: A Qualitative Inquiry.

Elderly persons are at risk of experiencing burns and require support from both formal and informal caregivers. Informal caregiving in this situation has been minimally explored. Guided by the Stress Process Model, this study aimed at exploring the background, context, and stressors of informal caregivers of elderly burned persons during hospitalization. A qualitative descriptive design was utilized. Purposive sampling approach was used to recruit fourteen (14) informal caregivers who rendered care to elderly burned persons during hospitalization. Interviews were conducted and transcribed verbatim following which directed content analysis was undertaken deductively. Three categories and six subcategories emerged which characterize the background, context, and stressors of informal caregiving to elderly burn patients. All the injuries occurred in the home setting and its sudden nature led to varied postburn emotional responses which characterized the context of burns caregiving. Primary stressors that emerged were related to the injury, actual caregiving demand, and concerns regarding increasing frailty levels. Secondary stressors identified were financial concerns and lifestyle changes. The findings suggest that the occurrence of burn injury served as a precursor to postburn stress response among informal caregivers. Increasing frailty levels, adequacy of household safety measures, and financial issues were key concerns which emphasize the need for psychosocial/transitional support, innovative healthcare financing measures, and continuing education on burns prevention in the home setting.

Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P).

OBJECTIVE: Nonsyndromic cleft lip and/or cleft palate (NSCL/P) have multifactorial etiology where genetic factors, gene-environment interactions, stochastic factors, gene-gene interactions, and parent-of-origin effects (POEs) play cardinal roles. POEs arise when the parental origin of alleles differentially impacts the phenotype of the offspring. The aim of this study was to identify POEs that can increase risk for NSCL/P in humans using a genome-wide dataset. METHODS: The samples (174 case-parent trios from Ghana, Ethiopia, and Nigeria) included in this study were from the African only genome wide association studies (GWAS) that was published in 2019. Genotyping of individual DNA using over 2 million multiethnic and African ancestry-specific single-nucleotide polymorphisms from the Illumina Multi-Ethnic Genotyping Array v2 15070954 A2 (genome build GRCh37/hg19) was done at the Center for Inherited Diseases Research. After quality control checks, PLINK was employed to carry out POE analysis employing the pooled subphenotypes of NSCL/P. RESULTS: We observed possible hints of POEs at a cluster of genes at a 1 mega base pair window at the major histocompatibility complex class 1 locus on chromosome 6, as well as at other loci encompassing candidate genes such as ASB18, ANKEF1, AGAP1, GABRD, HHAT, CCT7, DNMT3A, EPHA7, FOXO3, lncRNAs, microRNA, antisense RNAs, ZNRD1, ZFAT, and ZBTB16. CONCLUSION: Findings from our study suggest that some loci may increase the risk for NSCL/P through POEs. Additional studies are required to confirm these suggestive loci in NSCL/P etiology.

Compassion Fatigue in the Burn Unit: A Review of Quantitative Evidence.

Healthcare staff across varied clinical settings are faced with varied stressors that can lead to compassion fatigue. However, there is currently no review examining the phenomenon in-depth in the burn unit. Thus, in the current study, the authors sought to scope existing studies to ascertain the prevalence, contributing factors, and effects of compassion fatigue in the burn unit. Compassion fatigue was conceptualized as comprising of burnout (BO) and secondary traumatic stress. Arksey and O'Malley's scoping review approach was used and reported according to the preferred reporting items for systematic reviews and meta-analyses (PRISMA) extension guidelines. Searches were undertaken across peer-reviewed databases and gray literature sources for quantitative studies. Following the search and screening process, nine studies were retained. Codes were formulated across studies following which narrative synthesis was undertaken. The majority of the studies (n = 5) focused on burn care nurses. High levels of emotional exhaustion and depersonalization and comparatively low levels of personal achievement were reported among burn care staff which is indicative of BO. Compassion fatigue was also observed to be high among burn care staff. Contributing factors are varied, albeit some variables such as age, staffing levels, remuneration, nature of the work environment, and number of years worked were consistent across some studies. In conclusion, working in the burn unit is challenging with significant stressors that can lead to BO, traumatic stress, and subsequently, compassion fatigue. Interventions to promote resilience, hardiness, optimal working environment, peer, and psychosocial support are greatly needed.

"Managing uncertainty": Experiences of family members of burn patients from injury occurrence to the end-of-life period.

BACKGROUND: Although mortality rates associated with burns have decreased, there is still a significant number of persons who may not survive severe forms of the injury and thus, undergo comfort/end of life care. The experiences of family members of persons whose injuries are deemed unsurvivable remain minimally explored and there is a general lack of practice guidelines and recommendations to support them at the end-of-life period. AIM: To explore the experiences of family members whose relatives died in the burn unit to inform the development of practice recommendations. METHODS: Qualitative description was employed for this study. Convenience sampling was used to recruit 23 family members of injured persons who died in the burn unit. Face to face semi-structured interviews were conducted and followed up with telephone interviews. The interviews were audio-recorded, transcribed verbatim and thematic analysis performed inductively. RESULTS: Three themes emerged: reactions following injury occurrence, navigating through the experience, and managing uncertainties about survival. The sudden nature of the injury led to feelings of self-blame, guilt, helplessness, and grief and these escalated at the end of life. As the family members journeyed through their uncertainties regarding the outcomes of care, they had a feeling of being a part of the patient's suffering. Family members received little professional support in coming to terms with their loss in the post-bereavement period. CONCLUSIONS: Family members experience distress following the occurrence of burns and at the endof-life period. Practice recommendations should focus on communication, bereavement, and post-bereavement support.

Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.

BACKGROUND: Orofacial clefts (OFCs) are congenital malformations of the face and palate, with an incidence of 1 per 700 live births. Clubfoot or congenital talipes equinovarus (CTEV) is a three-dimensional abnormality of the leg, ankle, and feet that leads to the anomalous positioning of foot and ankle joints and has an incidence of 1 per 1000 live births. OFCs and CTEV may occur together or separately in certain genetic syndromes in addition to other congenital abnormalities. Here, we sought to decipher the genetic etiology of OFC and CTEV that occurred together in six probands. METHODS: At the time of recruitment, the most clinically obvious congenital anomalies in these individuals were the OFC and CTEV. We carried out whole-exome sequencing (WES) on DNA samples from probands and available parents employing the Agilent SureSelect XT kit and Illumina HiSeq2500 platform, followed by bioinformatics analyses. WES variants were validated by clinical Sanger Sequencing. RESULTS: Of the six probands, we observed probable pathogenic genetic variants in four. In three probands with probable pathogenic genetic variants, each individual had variants in three different genes, whereas one proband had probable pathogenic variant in just one gene. In one proband, we observed variants in DIS3L2, a gene associated with Perlman syndrome. A second proband had variants in EPG5 (associated with Vici Syndrome), BARX1 and MKI67, while another proband had potentially etiologic variants in FRAS1 (associated with Fraser Syndrome 1), TCOF1 (associated with Treacher Collins Syndrome 1) and MKI67. The last proband had variants in FRAS1, PRDM16 (associated with Cardiomyopathy, dilated, 1LL/Left ventricular noncompaction 8) and CHD7 (associated with CHARGE syndrome/Hypogonadotropic hypogonadism 5 with or without anosmia). CONCLUSION: Our results suggest that clubfoot and OFCs are two congenital abnormalities that can co-occur in certain individuals with varying genetic causes and expressivity, warranting the need for deep phenotyping.