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.

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.

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.

Genomic analyses in African populations identify novel risk loci for cleft palate.

Orofacial clefts are common developmental disorders that pose significant clinical, economical and psychological problems. We conducted genome-wide association analyses for cleft palate only (CPO) and cleft lip with or without palate (CL/P) with ~17 million markers in sub-Saharan Africans. After replication and combined analyses, we identified novel loci for CPO at or near genome-wide significance on chromosomes 2 (near CTNNA2) and 19 (near SULT2A1). In situ hybridization of Sult2a1 in mice showed expression of SULT2A1 in mesenchymal cells in palate, palatal rugae and palatal epithelium in the fused palate. The previously reported 8q24 was the most significant locus for CL/P in our study, and we replicated several previously reported loci including PAX7 and VAX1.

"Hanging in a balance": A qualitative study exploring clinicians' experiences of providing care at the end of life in the burn unit.

BACKGROUND: Although the culture in burns/critical care units is gradually evolving to support the delivery of palliative/end of life care, how clinicians experience the end of life phase in the burn unit remains minimally explored with a general lack of guidelines to support them. AIM: To explore the end of life care experiences of burn care staff and ascertain how their experiences can facilitate the development of clinical guidelines. DESIGN: Interpretive-descriptive qualitative approach with a sequential two phased multiple data collection strategies was employed (face to face semi-structured in-depth interviews and follow-up consultative meeting). Thematic analysis was used to analyze the data. SETTING/PARTICIPANTS: The study was undertaken in a large teaching hospital in Ghana. Twenty burn care staff who had a minimum of 6 months working experience completed the interviews and 22 practitioners participated in the consultative meeting. RESULTS: Experiences of burn care staff are complex with four themes emerging: (1) evaluating injury severity and prognostication, (2) nature of existing system of care, (3) perceived patient needs, and (4) considerations for palliative care in burns. Guidelines in this regard should focus on facilitating communication between the patient and family and staff, holistic symptom management at the end of life, and post-bereavement support for family members and burn care practitioners. CONCLUSIONS: The end of life period in the burn unit is poorly defined coupled with prognostic uncertainty. Collaborative model of practice and further training are required to support the integration of palliative care in the burn unit.

Developing a Breast Reconstruction Program in a Resource-Constrained Ghanaian Teaching Hospital: Needs Assessment and Implementation.

ABSTRACT: As the detection of breast cancer in Ghana improves, the incidence of mastectomy has increased and the outcomes have improved. As a secondary result, the need for breast reconstruction is increasing. The cultural hesitation to undergo a mastectomy and live without a breast can be decreased by making breast reconstruction available, cost-effective, and acceptable. Cultural, economic, and technical factors were considered in choosing the best method of breast reconstruction. Discussions, lectures, and cadaver dissections investigated the various reconstructive options. Operative cases were performed using a latissimus musculocutaneous flap, a lower abdominal transverse rectus abdominis myocutaneous (TRAM) flap, and a midabdominal TRAM flap. The midabdominal TRAM was found to be the best choice at Komfo Anokye Teaching Hospital. It is a reliable, robust, well-perfused, single-stage flap that produced excellent patient satisfaction.

Creating an Outpatient, Local Anesthetic Hand Operating Room in a Resource-Constrained Ghanaian Hospital Builds Surgical Capacity and Financial Stability.

INTRODUCTION: Expanding surgical capacity is very difficult in resource-constrained countries. Financial input and additional physical operating room space are needed. The surgical patient volume exists, but the lack of operating room time causes postponement of cases. Hand surgery is particularly important as it improves patient function and allows for a timely return to the workforce after injury. Some hand surgery cases may be performed under local anesthesia with a very basic instrument set in a procedure room. This arrangement eliminates the need and financial burden of an equipped operating room and the need for an anesthesiologist. We hypothesized that performing hand surgery in a simple procedure room by a surgeon with knowledge of adequate local anesthesia could increase hand surgery capacity significantly in a low-income country. METHODS: This technique has been instituted at Komfo Anokye Teaching Hospital in Kumasi, Ghana, with the use of a single procedure room that was previously used for storage. A surgeon trained in performing wide-awake local anesthesia no tourniquet technique visited Komfo Anokye Teaching Hospital and provided lectures about hand surgery under local anesthesia and evidence-based sterility for 6 years. The number and type of cases performed in the procedure room were recorded for the first 11 months after it opened in 2017. RESULTS: For 11 months, use of this room had increased surgical capacity by 33 cases per month. Patient ages ranged from 2 months to 65 years. There have been 358 total cases performed, 240 of which were hand cases. This included washout of hand wounds (n = 87), tendon repair (n = 54) including a single tendon transfer, fracture pinning (n = 33), amputations (n = 24), trigger finger repair (n = 10), nerve repair (n = 6), congenital hand surgery (n = 4), and other (n = 22). Cost savings per case in the procedure room ranges from 500 cedis (US $100) to 2000 cedis (US $400). CONCLUSIONS: The simple procedure room runs more efficiently and is less costly compared with the main operating rooms. Although the case volume has increased surgical capacity significantly, costs to the hospital and patient have decreased. The hospital is reimbursed in a timely fashion for the procedures directly by the patient using this technique. The creation of a single procedure room for wide-awake local anesthesia no tourniquet hand surgery has helped address the issues of inadequate operating room space, time, and expense in resource-constrained Ghana.

Novel GREM1 Variations in Sub-Saharan African Patients With Cleft Lip and/or Cleft Palate.

OBJECTIVE: Cleft lip and/or cleft palate (CL/P) are congenital anomalies of the face and have multifactorial etiology, with both environmental and genetic risk factors playing crucial roles. Though at least 40 loci have attained genomewide significant association with nonsyndromic CL/P, these loci largely reside in noncoding regions of the human genome, and subsequent resequencing studies of neighboring candidate genes have revealed only a limited number of etiologic coding variants. The present study was conducted to identify etiologic coding variants in GREM1, a locus that has been shown to be largely associated with cleft of both lip and soft palate. PATIENTS AND METHOD: We resequenced DNA from 397 sub-Saharan Africans with CL/P and 192 controls using Sanger sequencing. Following analyses of the sequence data, we observed 2 novel coding variants in GREM1. These variants were not found in the 192 African controls and have never been previously reported in any public genetic variant database that includes more than 5000 combined African and African American controls or from the CL/P literature. RESULTS: The novel variants include p.Pro164Ser in an individual with soft palate cleft only and p.Gly61Asp in an individual with bilateral cleft lip and palate. The proband with the p.Gly61Asp GREM1 variant is a van der Woude (VWS) case who also has an etiologic variant in IRF6 gene. CONCLUSION: Our study demonstrated that there is low number of etiologic coding variants in GREM1, confirming earlier suggestions that variants in regulatory elements may largely account for the association between this locus and CL/P.

A model for university-based international plastic surgery collaboration builds local sustainability.

This article aimed to assess the sustainability from collaboration between international plastic surgery consultants and a hospital of a developing country in the promotion and delivery of quality health care to the local population. Humanitarian medical missions have evolved in structure and volume during the last 40 years. Medical mission trips were initially designed to treat local populations and help decrease the burden of disease. A limited number of the local population benefited from the mission. Some mission trips evolved from not only treating the local population but also teaching local physicians. These trips produced some local sustainability. Host physicians carried on a broader range of care after the mission trip had departed. Further evolution of these medical trips involves not only care and teaching but also involvement of host medical students and residents. Regularly scheduled Internet-based consultations and educational conferences expand the educational opportunities. The sustainability of medical trips based on this model is maximized. This process still has limitations: a limited number of the local population are treated during the in-country 1-week visits, Internet reliability may limit the transmission or quality of conferences, and differences in hospital resource availability may limit transference of US techniques to other hospitals.

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.

Reduction mammaplasty in a developing country: a guideline for plastic surgeons for patient selection.

BACKGROUND: In Ghana and most developing countries there has been no standardized study of reduction mammaplasty (RM) in patients with symptomatic macromastia (SM), despite its debilitating effects. This study aimed to analyze the physical and psychological effects associated with female patients who underwent reduction mammaplasty and to develop a guideline for plastic surgeons in developing countries to know the most important signs and symptoms to consider in SM patients. METHODS: From 2003 to 2009, all females with SM who visited Komfo Anokye Teaching Hospital (KATH) in Kumasi, Ghana, for RM were given a questionnaire designed to evaluate SM-related physical and psychological effects. These patients were then provided the same questionnaire at their final visit 5 months postoperatively to assess the effects of RM on SM. RESULTS: Sixty-three patients who underwent RM were evaluated, with a mean age of 28.5 years. Twenty-seven (42.9%) patients reported that their macromastia started during puberty, with 3 (4.8%) patients associating the onset with pregnancy. Thirty (47.6%) patients reported having SM for more than 10 years. Multiple regression analysis revealed upper- and lower-back pain (p=0.0005), painful bra strap grooves (p=0.0041), teasing (p=0.01), and poor self-image (p=0.021) to be significant factors for which patients underwent RM. Postoperatively, most of the patients' physical symptoms resolved, while 2 (3.2%) patients complained of residual psychological effects. CONCLUSION: RM offers substantial symptomatic relief for patients with SM and results in significant improvement in the patient's quality of life. This study conclusively demonstrates that, upper- and lower-back pain, painful bra strap grooves, teasing, and poor self-image should be considered by plastic surgeons before deciding which SM patient to treat when confronted with numerous SM patients.

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.

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.

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.

Komfo Anokye Teaching Hospital Multidisciplinary Cleft Clinic.

BACKGROUND: A retrospective review of cleft lip and palate surgeries at our hospital during 2001-2005 showed an increase in patients treated per year. The aim of the study was to review the activities of the clinic, hence to determine the variation in number of cleft lip and palate cases and surgeries from 2006 to 2009, and also to identify the commonest type of cleft cases during the same period. METHODS: Data for this retrospective study were obtained from the outpatient department records of the cleft clinic and operating theater. Information collected included demographic features of the patients, types of cleft lip/palate, number of attendance, and surgeries performed. The data were then analyzed using SPSS version 12.0. RESULTS: A total of 528 patients were operated on for cleft lip/and palate (ie, 132 surgeries per year). Most patients (54.2%, n=286) were boys. The age of the patients ranged from 1 to 25 months, with a mean age of 3.7 months. There was also an increase in cleft lip surgeries from 2006 to 2009, whereas cleft palate surgeries decreased toward the year 2009. In terms of types, cleft lip (73.1%, n=386) outnumbered cleft palate. Also, unilateral clefts (70.5%, n=372), in terms of position, were the majority. CONCLUSIONS: The number of cleft surgeries was found to increase per year, and unilateral cleft lip was identified as the commonest type of cleft cases. Financial, logistic, and training support to cleft clinics in developing countries would play an essential role in the treatment of cleft patients.

Measurements of breasts of young West African females: a guideline in anatomical landmarks for adolescent breast surgery.

BACKGROUND: There have been few studies to develop standardized methods of measuring female breasts' shapes in clinical settings in West Africa. The objective of this study was to determine the clinical variation in breast measurements among a large group of adolescent female subjects, with the goal of providing guideline metrics to surgeons performing reduction mammaplasty and mastopexy on patients desiring a more adolescent shape and nipple position. METHODS: Standard measurement parameters of both breasts were measured and recorded. Subjects were female students from six selected junior high schools (JHS) at Sogakope, Ghana. Demographic and statistical data were recorded and analyzed with Epi Info™ 2000. RESULTS: A total of 438 subjects, aged 16-22 years (mean = 17.43 years) were surveyed. The average distance from the suprasternal notch to the left and right breast nipples was 20.97 and 20.31 cm, respectively. The average distance from the left and right nipples to their inframammary crease was 9.36 and 9.21 cm, respectively. The average distance from the midline in the xiphoid area to the left and right nipples was 10.94 and 10.84 cm, respectively. The average asymmetrical difference in length along the vertical midline between left and right breasts for 53.4% (234) of the total subjects (438) was 1.32 cm; no differences were recorded for the remaining 204 subjects. CONCLUSION: The "normal values" for adolescent youthful breasts differ slightly from previous reports on desired adult breast outcomes. It is hoped that these values would serve as a baseline in aesthetic breast surgeries, especially in reduction mammaplasty in young females.

"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.

Efficiency of fine-needle aspiration compared with other sampling techniques for laboratory diagnosis of Buruli ulcer disease.

In accordance with recent WHO recommendations, this study evaluates the sensitivities of PCR and microscopy for fine-needle aspiration (FNA) versus techniques involving swabs and punch biopsy specimens and suggests that FNA can replace punch biopsies for nonulcerative lesions and may serve as an alternative for ulcerative lesions in cases where scarred edges prevent the collection of swabs.