RESUMO
GNAS variants were recently described in 1% of patients not known to have pseudohypoparathyroidism/inactivating PTH/PTHrP signalling disorder 2 in the UK Genetics of Obesity Study. We describe a new missense GNAS variant, c.791A > C, p.(Asp264Thr), in a family with obesity, hyperphagia and mild PTH resistance. A 6-year-old female (body mass index +4.3 SD score [SDS], height +1.9 SDS) presented with hyperphagia and obesity from age 3 years. She had subtle brachydactyly, macrocephaly, and mildly delayed development. The 12-year-old brother (height +2.1 SDS, body mass index +2.9 SDS) had hyperphagia, obesity, mildly delayed development, and autism. He had subtle brachydactyly, as did the affected mother. We assessed the functional effect of the mutant, measuring cAMP production in cells transfected with wild type and mutant GNAS after ligand stimulation. Cells with the mutant GNAS showed impaired cAMP generation through melanocortin receptor 4, GH releasing hormone receptor, and PTH receptor. These cases demonstrate the clinical heterogeneity of monogenic disease, suggesting a need to test for PHP1A in children with obesity even without classical signs of PHP1A.
RESUMO
It was the aim of the study to analyze the distribution and pattern of facial fractures following e-scooter trauma. Prospective audit data of facial fractures were retrospectively collected to investigate the impact of e-scooter hire, specifically in the form of facial fractures associated with their use. Data collected included patient demographics, mode of injury, date of injury, facial bones involved, presence of soft tissue injury, and factors associated with injury, including intoxication and helmet use. A total of 849 patients were treated for facial fractures during the study period, of which 34 were attributed to e-scooter use. One-half of those injured riding e-scooters were intoxicated, and one-quarter were wearing helmets. There have been an increasing number of facial fractures associated with e-scooter use following the start of the shared e-scooter trial. Zygomaticomaxillary complex fractures were the most common pattern of facial fracture seen. Most patients required surgical management of their injuries. Policymakers should consider how to improve the enforcement of current regulations, given the healthcare cost associated with the management of these preventable injuries.
RESUMO
BACKGROUND: Treatment of scalp malignancies may include the need for craniectomy. The decision to perform cranioplasty is not straightforward and is frequently subjective. The purpose of this study was to assess the clinical outcomes after reconstruction of complex scalp and calvarial defects by comparing patients with and without cranioplasty. METHODS: Retrospective review of the clinical records of a consecutive series of patients who underwent scalp soft tissue reconstruction after craniectomy for malignancy or osteoradionecrosis between 2014 and 2022 at Royal Melbourne Hospital was conducted. Demographics, previous treatments, surgical details, and post-operative complications were assessed. Traumatic injuries and decompressive craniectomies were excluded. Minimum follow-up of 6 months. RESULTS: Thirty-seven patients were included in the study. Indications for surgery included skin malignancies, osteoradionecrosis, or both. There was one reconstructive failure (in the non-cranioplasty group). Infection and metalware exposure were common complications in patients who underwent cranioplasty (38.5%). No patient developed neurological symptoms subsequent to craniectomy. One patient needed revision surgery due to esthetic reasons (cranioplasty group). Transposition flaps were associated with more complications and revision procedures. CONCLUSION: Combined scalp and calvarial defects pose a difficult reconstructive challenge. Stable soft tissue coverage is more reliably achieved with free flap reconstruction. Cranioplasty is not always mandatory and should be reserved for cases with a very large bony defect or when the defect is located in a cosmetically sensitive area.
Assuntos
Procedimentos de Cirurgia Plástica , Couro Cabeludo , Neoplasias Cutâneas , Crânio , Humanos , Couro Cabeludo/cirurgia , Masculino , Feminino , Estudos Retrospectivos , Procedimentos de Cirurgia Plástica/métodos , Crânio/cirurgia , Pessoa de Meia-Idade , Idoso , Neoplasias Cutâneas/cirurgia , Retalhos Cirúrgicos , Osteorradionecrose/cirurgia , Adulto , Complicações Pós-Operatórias/cirurgia , Idoso de 80 Anos ou mais , Craniotomia/métodos , Craniotomia/efeitos adversos , Reoperação/métodos , Neoplasias de Cabeça e Pescoço/cirurgia , Resultado do TratamentoRESUMO
A multidisciplinary approach to the management of tongue cancer is vital for achieving optimal patient outcomes. Nursing and allied health professionals play essential roles within the team. We developed symposia comprising a series of online lectures offering a detailed perspective on the role each discipline and consumer perspective has in the management of patients with tongue cancer. The topics, including epidemiology and prevention, diagnosis, treatment planning, surgery, adjuvant care, and the management of recurrent or metastatic disease, were thoroughly examined. The symposia highlighted the significance of fostering collaboration and continuous learning through a multidisciplinary approach. This initiative should be relevant to healthcare professionals, researchers, and policymakers striving to enhance patient outcomes in tongue cancer care through innovative collaboration.
RESUMO
BACKGROUND: The proliferation of electric scooters globally has been associated with an increase in related injuries and consequent economic burden. This study aims to assess the injury patterns and the economic impact associated with electric scooter use in Melbourne, Australia. METHODS: A retrospective cohort study was conducted using hospital and registry data from January 2022 to January 2023. Data collected included demographic details, alcohol and helmet use, injury type and severity, operative treatment provided, and direct medical costs. The economic impact (in AUD) of the patient's emergency presentation and hospital admission was calculated. RESULTS: During the study period, 256 electric scooter related injuries were recorded, comprising 247 riders and nine pedestrians. The majority of patients were males (69%) with a median age of 29.5 (15-78). Alcohol use was reported by 34% and helmet use by 33%. Injuries most commonly affected the upper limb (53%) and head (50%), with abrasions (75%) and fractures (48%) being the most common type of injury sustained. The total hospital cost was $1 911 062, and the median cost was $1321.66 per patient (IQR: $479.37-$5096.65). CONCLUSION: Electric scooter usage, as observed through patient presentations to the Royal Melbourne Hospital, is associated with a considerable number of injuries, primarily among young males, and an ensuing substantial economic burden. The findings underscore the urgent need for improved safety measures to minimize electric scooter-related injuries and their clinical and economic repercussions.
Assuntos
Fraturas Ósseas , Masculino , Humanos , Feminino , Estudos Retrospectivos , Fraturas Ósseas/epidemiologia , Hospitalização , Consumo de Bebidas Alcoólicas , Austrália/epidemiologia , Dispositivos de Proteção da Cabeça , Serviço Hospitalar de Emergência , Acidentes de TrânsitoRESUMO
BACKGROUND: Evidence of type 2 diabetes mellitus (T2DM) associated with hippocampal atrophy is reported by researchers all around the globe. The majority of such studies were conducted among the geriatric and elderly populations with other substantial co-morbid diseases. Hence, the present study aims to evaluate the hippocampal volume of T2DM subjects below 60 years without any concomitant disorders and assess the declarative memory. MATERIALS AND METHODS: The cross-sectional observational study was conducted among the ethnic population of Manipur. A total of 17 T2DM subjects and 17 healthy controls, who are apparently healthy, matched by age, sex, and comparable education, were enrolled in the study. Magnetic Resonance Imaging (MRI) of high-resolution sagittal structural T1-weighted anatomical sequence was acquired using a three-dimension magnetization-prepared rapid-acquisition gradient echo (MPRAGE). The hippocampus volume was measured using the volBrain Automated MRI Brain Volumetry System. Declarative memory was estimated by the Rey Auditory Verbal Learning Test (RAVLT). RESULTS: No statistically significant differences were found in hippocampal volume, and RAVLT scores between T2DM subjects, and healthy controls group (P > 0.05). CONCLUSIONS: The study data indicates that there is no particular hippocampal volume vulnerability in T2DM participants within the ethnic population of Manipur.
RESUMO
BACKGROUND: Adherence to guidelines for antibiotic prophylaxis is often poor and is an important target for antimicrobial stewardship programs. Prescribing audits that suggested poor adherence to guidelines in a plastic surgery department led to a targeted education program to bring antibiotic prescriptions in line with hospital guidelines. We reviewed whether this intervention was associated with changed perioperative prescribing and altered surgical outcomes, including the rate of surgical site infections, specifically looking at clean-contaminated head and neck tumor resections with free flap reconstruction. METHODS: A retrospective cohort study was performed on 325 patients who underwent clean-contaminated head and neck tumor resection and free flap reconstruction from January 1, 2013, to February 19, 2019. Patients were divided into 2 groups, those before (pre-intervention) and after (postintervention) the education campaign. We analyzed patient demographic and disease characteristics, intraoperative and postoperative factors, and surgical outcomes. RESULTS: Patients pre-intervention were prescribed longer courses of prophylactic antibiotics (median [interquartile range], 9 [8] vs 1 [1]; Pâ <â .001), more topical chloramphenicol ointment (21.82% vs 0%; Pâ <â .001), and more oral nystatin (36.9% vs 12.2%; Pâ <â .001). Patients postintervention had higher rates of recipient infections (36.11% vs 17.06%; Pâ <â .001) and donor site infections (6.94% vs 1.19%; Pâ =â .006). CONCLUSIONS: Following the education campaign, patients were prescribed shorter courses of prophylactic antibiotics, more of the recommended cefazolin-metronidazole regimen, and fewer topical antibiotics. However, patients also had a higher rate of surgical site infections.
RESUMO
BACKGROUND: Surgical site infections (SSI) are common complications of free-flap reconstruction for head and neck cancer defects. This study aimed to identify risk factors for SSI following a significant change in local antibiotic prophylaxis practice. METHODS: A retrospective cohort study was conducted of 325 patients receiving free-flap reconstruction for head and neck cancer defects at a tertiary hospital in Melbourne, Australia between 2013 and 2019. Charts were queried for recipient SSI (primary outcome), donor SSI, other infections, antibiotic use, hospital length of stay, and mortality. RESULTS: Risk factors for SSI included female sex, T-classification, hardware insertion, clindamycin prophylaxis, and operative duration. There was a trend toward increased SSI with shorter ≤24 h prophylaxis (OR: 0.43). CONCLUSION: Antibiotic duration and type were associated with SSI. Complexity of surgery, T-classification, hardware use, and operative duration were also independently associated with SSI. A prospective trial is indicated to elicit optimal prophylactic antibiotic duration.
Assuntos
Retalhos de Tecido Biológico , Neoplasias de Cabeça e Pescoço , Procedimentos de Cirurgia Plástica , Antibioticoprofilaxia , Austrália/epidemiologia , Estudos de Coortes , Feminino , Neoplasias de Cabeça e Pescoço/cirurgia , Humanos , Estudos Prospectivos , Estudos Retrospectivos , Fatores de Risco , Infecção da Ferida Cirúrgica/epidemiologia , Infecção da Ferida Cirúrgica/etiologia , Infecção da Ferida Cirúrgica/prevenção & controleRESUMO
BACKGROUND: The authors aimed to examine the differences in CT facial bone interpretation by the faciomaxillary surgeon and the radiologist, in order to improve communication gaps and subsequently, the quality and consistency of patient care. METHODS: This study was conducted at a level I tertiary trauma centre. Patients with facial trauma who were referred to the faciomaxillary unit following a facial CT examination from August 2017 to September 2018 were eligible for inclusion. The inclusion period was extended to 5 years for panfacial trauma patients. All consecutive patients that fulfilled the study inclusion criteria for each type of injury were included in the study (a total of 120 patients assigned to the following six categories: orbits, skull and skull base, zygomaticomaxillary complex, Le Fort pattern, mandible and pan-facial fractures). Faciomaxillary surgeons, blinded to the radiology report, were asked to provide a verbal description of the fractures. The surgical interpretation was compared to the radiology report and further analysed. RESULTS: Of the 120 cases, the same fractures were reported in 43 cases (35.8%). Both types of specialists noted the predominant and clinically relevant fractures in 106 cases (88.3%). The reports did not match in 14 cases (11.7%) and different terminology was used in 76 cases (63.3%), with agreement in 25% (95% CI: 18-34%), partial agreement in 11.7% (95% CI: 5.9-17.4%) and no agreement in 63.3% (95% CI: 54.7-72.0%) cases. CONCLUSION: Radiologists and faciomaxillary surgeons frequently differ in their assessment of facial fractures.
Assuntos
Fraturas Cranianas , Cirurgiões , Ossos Faciais/diagnóstico por imagem , Ossos Faciais/cirurgia , Humanos , Radiologistas , Estudos Retrospectivos , Fraturas Cranianas/diagnóstico por imagem , Fraturas Cranianas/cirurgiaRESUMO
BACKGROUND: Lymphoedema is an incurable and progressive disease that affects not only physical function but overall quality of life. Surgical treatment options for the management of lymphoedema are being increasingly performed. This study aims to review post-operative health-related quality of life (HRQOL) following surgical treatment of lymphoedema. METHODS: A systematic search of the PubMed and Medline databases was performed from the date of their inception until September 2018 to evaluate HRQOL following different surgical options for the treatment of lymphoedema. RESULTS: One hundred and thirteen articles were identified. Twenty-one articles were included in the final review, comprising a total of 736 patients. HRQOL improvements appear to be sustained for at least 6-12 months post-operatively. In particular, major benefits were noted in the domains based around physical functioning. Patient satisfaction similarly mirrors HRQOL improvements, following an initial dip in the immediate post-operative period. CONCLUSION: All surgical treatment modalities for the management of lymphoedema confer significant HRQOL improvements across a diverse range of health domains, with this critical outcome of surgery an important pre-operative consideration. Recommendations for ongoing research are suggested.
Assuntos
Linfedema , Qualidade de Vida , Humanos , Linfedema/etiologia , Linfedema/cirurgiaRESUMO
Microsurgical reconstructive head and neck cancer patients are at high risk of venous thromboembolism. The use of anticoagulation can reduce their risk; however, this also increases their bleeding risk. It is not clear whether the benefits of treatment outweigh the risks, and whether a specific post-operative anticoagulation regime is superior. The aim of this review is to evaluate the evidence pertaining to the risks and benefits of post-operative anticoagulation and to provide a rationale for its use in head and neck cancer patients receiving free flaps. The secondary aim was to determine the optimal post-operative anticoagulation regimen. A search was conducted in the PubMed and EMBASE databases identifying studies reporting venous thromboembolism rates in reconstructive head and neck cancer patients undergoing free flaps. These studies were reviewed for their eligibility. Outcomes measured were rates of venous thromboembolism, bleeding-related and microsurgical complications. A total of 306 studies were found from the search with another seven studies identified from citations of key articles. After assessment, nine studies were included. Venous thromboembolism rates ranged from 0.5% to 7% and the rates of bleeding-related complications ranged from 2.4% up to 29%. Anticoagulation appears to lower the risk of venous thromboembolism in this patient group, but also increases the bleeding risk. Risk stratification using the Caprini risk assessment model can help surgeons make decisions. For patients with cancer, low molecular weight heparin appears to be superior to heparin given twice daily but equal to heparin given three times daily and the bleeding risk of each medication appears similar.
Assuntos
Neoplasias de Cabeça e Pescoço , Anticoagulantes/efeitos adversos , Neoplasias de Cabeça e Pescoço/cirurgia , HumanosRESUMO
BACKGROUND: Chest keloids are a difficult sub-group of scars to treat, likely secondary to the high wound tension in the area that promotes excessive fibroblast proliferation and collagen deposition. Excision and adjuvant radiotherapy has been demonstrated as an efficacious treatment for keloids in general, but no meta-analysis exists to support the claims for chest keloids. This study aims to identify the rate of recurrence after surgical resection and radiotherapy on patients with chest keloids. METHODS: A search was performed using Embase, MEDLINE, Pubmed and Cochrane database on 22 December 2018 for terms 'radiotherapy', 'keloid' and 'chest'. Papers included met a prospectively designed inclusion criteria assessed by multiple investigators. RESULTS: Twelve studies, including 1 randomized controlled trial, were included for a total of 400 patients with a chest keloid scar managed with surgical excision and adjuvant radiotherapy. Overall pooled-estimate of recurrence rate was 22% (95% CI 12-32%). Meta-regression did not demonstrate a significant effect for method of wound closure, type of radiotherapy, radiotherapy dose (BED10 ) and study type. CONCLUSION: Excision and adjuvant radiotherapy represents an effective method of treatment for chest keloids, however sufficient prospective data, including randomized controlled trials, did not yet exist to support these findings. Further studies with sufficient sub-group analysis for keloid location are required to add to the pool of literature that can be added to this meta-analysis.
Assuntos
Queloide , Humanos , Queloide/radioterapia , Queloide/cirurgia , Recidiva Local de Neoplasia/epidemiologia , Recidiva Local de Neoplasia/radioterapia , Recidiva Local de Neoplasia/cirurgia , Estudos Prospectivos , Radioterapia Adjuvante , Ensaios Clínicos Controlados Aleatórios como Assunto , Recidiva , Resultado do TratamentoRESUMO
BACKGROUND: The traditional approach to head and neck reconstruction is considered challenging, requiring a subjective assessment of an often-complex defect followed by careful modelling of a bony flap to match this. The introduction of Virtual Surgical Planning (VSP) has provided the surgeon with a means to increase efficiency, precision and overall patient outcomes. This study aims to compare VSP and traditional head and neck reconstructions utilising fibula free flaps with regards surgical efficiency and patient outcomes. METHODS: A systematic search of the PubMed and Medline databases was performed from the date of their inception through to August 2018 to evaluate and compare VSP and non-VSP cohorts in the context of fibula free flap head and neck reconstruction. Primary comparative outcomes included operative and ischaemic time, with secondary outcomes including complications rates, measures of accuracy and financial benefits. RESULTS: One hundred and fifty-three articles were identified. Twenty-three articles were included in the review, comprising a total of 713 patients. VSP was associated with significantly decreased intraoperative time (Standardised Mean Difference -1.01; 95% CI -1.23 to 0.80; pâ¯=â¯0.000) and ischaemic time (Standardised Mean Difference -1.55; 95% CI -1.87 to -1.23, pâ¯=â¯0.002). VSP was also associated with reduced orthognathic deviation from an ideal outcome when compared to conventional techniques. No statistically significant differences in complication rates between conventional and VSP techniques were identified. CONCLUSION: The results of this meta-analysis suggests that VSP confers significant benefits with respect to improved orthognathic accuracy, ischaemic times and intraoperative times without any significant increase in complications. Recommendations for ongoing research are suggested.
Assuntos
Fíbula/transplante , Retalhos de Tecido Biológico , Neoplasias de Cabeça e Pescoço/cirurgia , Planejamento de Assistência ao Paciente , Procedimentos de Cirurgia Plástica/métodos , Cirurgia Assistida por Computador/métodos , Realidade Virtual , HumanosRESUMO
BACKGROUND: Bony free flaps are used to reconstruct head and neck cancer defects. The most commonly used flaps are the free fibula flap and the deep circumflex iliac artery (DCIA) flap. Radiotherapy may be given post-operatively to prevent cancer recurrence. This radiotherapy can, however, destroy the bone; a complication termed osteoradionecrosis (ORN). Although there have been studies comparing free fibula and DCIA flaps in terms of success rates and complications, few have assessed the incidence of ORN in both groups. METHODS: A retrospective cohort study was conducted involving patients from Royal Melbourne Hospital and St Vincent's Hospital Melbourne who had either a free fibula or DCIA flap for head and neck cancer reconstruction in the past 10 years. Data collected included demographic, operative, and postoperative data. Analysis was performed using Statistical Package for Social Sciences and Microsoft Excel, utilising t-tests, chi-square tests and logistic regression analyses. RESULTS: A total of 154 patients were identified. Of these patients, 127 had free fibula flaps and 27 had free DCIA flaps. Twelve patients had ORN post-op, 10 had free fibula flaps, and 2 had free DCIA flaps. No statistically significant difference was found between the ORN rates in free fibula flaps and free DCIA flaps. CONCLUSION: Rates of ORN incidence should not be a major consideration in preoperative planning of free flaps for mandibular reconstruction as both fibula and DCIA free flaps are comparable.
Assuntos
Transplante Ósseo/métodos , Fíbula/transplante , Neoplasias de Cabeça e Pescoço/cirurgia , Artéria Ilíaca/transplante , Mandíbula/efeitos da radiação , Reconstrução Mandibular/métodos , Osteorradionecrose/epidemiologia , Feminino , Fíbula/efeitos da radiação , Seguimentos , Neoplasias de Cabeça e Pescoço/radioterapia , Humanos , Incidência , Masculino , Mandíbula/diagnóstico por imagem , Mandíbula/cirurgia , Pessoa de Meia-Idade , Osteorradionecrose/diagnóstico , Osteorradionecrose/etiologia , Radiografia Panorâmica , Radioterapia Adjuvante/efeitos adversos , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Vitória/epidemiologiaRESUMO
Platelet activating factor (PAF) is a potent pro-inflammatory negotiator that shows distinct spectrum of biological and pharmacological effects. Importantly, it participates in a wide range of pathophysiological conditions. In cardiovascular system, PAF has been shown to have an important role in platelet and neutrophil aggregation, vascular permeability, microvascular leakage, thrombus formation, leukocyte adhesion to the endothelial cells, and initiation and progression of atherosclerosis. The purpose of this article was to review the PAF, a family of lipids that is associated with the pathology of coronary artery diseases due to their association with leading etiological mechanisms such as inflammation, endothelial dysfunction, oxidative and nitrosative stress, and platelet reactivity. This review further provides information about PAF and its potential role as a key contributor to the pathogenesis of cardiovascular disorders.
Assuntos
Síndrome Coronariana Aguda/sangue , Plaquetas/metabolismo , Mediadores da Inflamação/sangue , Fator de Ativação de Plaquetas/metabolismo , Ativação Plaquetária , Síndrome Coronariana Aguda/diagnóstico , Animais , Biomarcadores/sangue , Humanos , Valor Preditivo dos Testes , Prognóstico , Transdução de SinaisRESUMO
The use of small molecules to interfere with protein-protein interactions has tremendous therapeutic appeal and is an area of intense interest. Numerous techniques exist to assess these interactions and their disruption. Many, however, require large amounts of protein, do not allow interactions to be followed in real time, are technically demanding or require large capital expenditures and high levels of expertise. Surface plasmon resonance (SPR) represents a convenient alternative to these techniques with virtually none of their disadvantages. We have devised an SPR-based method that allows the heterodimeric association between the c-Myc (Myc) oncoprotein and its obligate partner Max to be quantified in a manner that agrees well with values obtained by other methods. We have adapted it to examine the ability of previously validated small molecules to interfere with Myc-Max heterodimerization and DNA binding. These inhibitors comprised two distinct classes of molecules that inhibit DNA binding by preventing Myc-Max interaction or distorting pre-formed heterodimers and rendering them incapable of DNA binding. Our studies also point out several potential artifacts and pitfalls to be considered when attempting to employ similar SPR-based methods. This technique should be readily adaptable to the study of other protein-protein interactions and their disruption by small molecules.
RESUMO
BACKGROUND: Ameloblastoma is a locally aggressive odontogenic neoplasm. With local recurrence rates reaching 90%, only completeness of excision can facilitate cure. Surgical clearance has widely been based on pre-operative imaging to guide operative excision margins, however use of intra-operative specimen x-ray or frozen-section has been sought to improve clearance rates, and advanced imaging technologies in this role have been proposed. This manuscript aims to quantify the evidence for evaluating intra-operative resection margins and present the current standard in this role. METHOD: The current study comprises the first reported comparison of imaging modalities for assessing ameloblastoma margins. A case is presented in which margins are assessed with each of clinical assessment based on preoperative imaging, intra-operative specimen x-ray, intra-operative specimen computed tomography (CT) and definitive histology. Each modality is compared quantitatively. These results are compared to the literature through means of systematic review of current evidence. RESULTS: A comparative study highlights the role for CT imaging over plain radiography. With no other comparative studies and a paucity of high level evidence establishing a role for intra-operative margin assessment in ameloblastoma in the literature, only level 4 evidence supporting the use of frozen section and specimen x-ray, and only one level 4 study assesses intra-operative CT. CONCLUSION: The current study suggests that intra-operative specimen CT offers an improvement over existing techniques in this role. While establishing a gold-standard will require higher level comparative studies, the use of intra-operative CT can facilitate accurate single-stage resection.