Nanopore-Based Metagenomic Sequencing in Respiratory Tract Infection: A Developing Diagnostic Platform.

Respiratory tract infection (RTI) remains a significant cause of morbidity and mortality across the globe. The optimal management of RTI relies upon timely pathogen identification via evaluation of respiratory samples, a process which utilises traditional culture-based methods to identify offending microorganisms. This process can be slow and often prolongs the use of broad-spectrum antimicrobial therapy, whilst also delaying the introduction of targeted therapy as a result. Nanopore sequencing (NPS) of respiratory samples has recently emerged as a potential diagnostic tool in RTI. NPS can identify pathogens and antimicrobial resistance profiles with greater speed and efficiency than traditional sputum culture-based methods. Increased speed to pathogen identification can improve antimicrobial stewardship by reducing the use of broad-spectrum antibiotic therapy, as well as improving overall clinical outcomes. This new technology is becoming more affordable and accessible, with some NPS platforms requiring minimal sample preparation and laboratory infrastructure. However, questions regarding clinical utility and how best to implement NPS technology within RTI diagnostic pathways remain unanswered. In this review, we introduce NPS as a technology and as a diagnostic tool in RTI in various settings, before discussing the advantages and limitations of NPS, and finally what the future might hold for NPS platforms in RTI diagnostics.

Rehabilitation of Patients with Compromised Ridge Support Using Immediately Loaded Corticobasal Implant-supported Prostheses: A Prospective Observational Study.

AIM: The aim of this prospective study is to evaluate the treatment outcomes and patient satisfaction following the use of fixed immediately loaded corticobasal implant-supported prostheses. MATERIALS AND METHODS: One hundred and seventy-four corticobasal implants (basal cortical screw, BCS implant design) were inserted in 20 consecutive patients with compromised ridge support. Implant survival and success were assessed using the James-Misch implant health quality scale and the Albrektsson criteria for implant success. The peri-implant health was evaluated at 1 week and 3, 6, 9, 12, and 18 months postoperatively. Moreover, the radiographic and prosthetic parameters and patient satisfaction were assessed. RESULTS: The implants showed optimum implant health and a 100% survival rate with none (0%) of the implants failing, mobile, lost, or fractured. Using Wilcoxon signed-rank test, significant decreases in both the modified gingival indexes and the probable pocket depth (PPD) and slight significant increases in the plaque index (PI) at 3, 9, 12, and 18 months and a nonsignificant increase at 6-month follow-up were reported with a range of 0-1. The calculus index (CI) was zero at all follow-up visits. Radiographic evaluations revealed increases in the bone-to-implant contact. Evaluation of the prostheses showed some treatable complications, and all the patients were satisfied. CONCLUSION: The use of corticobasal implant-supported prosthesis meets the patient's demand for an immediate, fixed treatment modality, with high survival and success rates, optimum peri-implant soft tissue health, and high reported satisfaction. CLINICAL SIGNIFICANCE: Corticobasal implants can improve the patient's esthetic, phonetic, mastication, and quality of life with the advantage of eliminating the need of bone grafting procedures.

Cardiac arrhythmia services in Africa from 2011 to 2018: the second report from the Pan African Society of Cardiology working group on cardiac arrhythmias and pacing.

AIMS: Cardiac arrhythmia services are a neglected field of cardiology in Africa. To provide comprehensive contemporary information on the access and use of cardiac arrhythmia services in Africa. METHODS AND RESULTS: Data on human resources, drug availability, cardiac implantable electronic devices (CIED), and ablation procedures were sought from member countries of Pan African Society of Cardiology. Data were received from 23 out of 31 countries. In most countries, healthcare services are primarily supported by household incomes. Vitamin K antagonists (VKAs), digoxin, and amiodarone were available in all countries, while the availability of other drugs varied widely. Non-VKA oral anticoagulants (NOACs) were unequally present in the African markets, while International Normalized Ratio monitoring was challenging. Four countries (18%) did not provide pacemaker implantations while, where available, the implantation and operator rates were 2.79 and 0.772 per million population, respectively. The countries with the highest pacemaker implantation rate/million population in descending order were Tunisia, Mauritius, South Africa, Algeria, and Morocco. Implantable cardioverter-defibrillator and cardiac resynchronization therapy (CRT) were performed in 15 (65%) and 12 (52%) countries, respectively. Reconditioned CIED were used in 5 (22%) countries. Electrophysiology was performed in 8 (35%) countries, but complex ablations only in countries from the Maghreb and South Africa. Marked variation in costs of CIED that severely mismatched the gross domestic product per capita was observed in Africa. From the first report, three countries have started performing simple ablations. CONCLUSION: The access to arrhythmia treatments varied widely in Africa where hundreds of millions of people remain at risk of dying from heart block. Increased economic and human resources as well as infrastructures are the critical targets for improving arrhythmia services in Africa.

Co-inheritance of alpha globin gene deletion lowering serum iron level in female beta thalassemia patients.

In the Eastern province of Saudi Arabia, thalassemia is highly common. Data on the effect of alpha globin gene variation on the concentration of iron on transfusion dependent Saudis are scanty. A total of 166 transfusions dependent ß-thalassemia were included in this study to understand association between the alpha globin gene variation and concentration of iron. Using multiplex PCR, the alpha globin gene deletions were identified. Also, HBA1 and HBA2 genes were sequenced by Sanger sequencing. Saudi transfusion dependent female ß-thalassemia patients with wild alpha globin genotype (αα/αα) were observed with iron level beyond the normal range. However, normal range of iron was observed in transfusion dependent Saudi female beta thalassemia patients co-inherited with double (-α3.7/-α3.7, or --Fil/αα or --MED/αα or - (α) 20.5/αα) or double heterozygosity (- -/-α3.7) alpha globin gene deletions, which is significantly (p < 0.0001) less compared to the Saudi transfused female with wild alpha globin genotype (αα/αα). The co-inheritance alpha globin gene deletions in female beta thalassemia patients were significantly lowering serum iron. Detailed studies can be taken forward to identify the molecular pathways involved in globin gene deletion as modulator.

Hand Surgery Referral Pattern Preferences Among Primary Care Physicians in Academic Centers in the Southeastern United States.

BACKGROUND: Board-certified hand surgeons undergo an additional 1 year of fellowship training after completing 1 of 3 residencies, either orthopedic surgery (OS), plastic surgery (PS), or general surgery (GS). The purpose of our study was to examine primary care physician's referral patterns for hand surgery in the Southeastern United States. METHODS: Primary care physicians across 38 academic medical institutions in the Southeastern United States were queried. A survey questionnaire was sent to their corresponding email address. The Questionnaire allowed the surveyor to enter demographic information and their choice in referral, either to OS, PS, or GS, for each particular hand pathology. RESULTS: Two-hundred twenty-eight of 1526 surveys were completed (15% response rate). One-hundred twenty-four were male respondents, and 105 were female. For treatment of arthritis, 94.7% selected OS; 5.3%, PS; and 0%, GS. For treatment of nerve decompression, 84.0% selected OS; 14.4%, PS; and 1.6%, GS. For treatment of nerve injuries, 64.2% selected OS; 34.6%, PS; and 1.2%, GS. For treatment of tendon injuries, 84.4% selected OS; 15.6%, PS; and 0%, GS. For treatment of congenital deformities, 55.1% selected OS; 44.9%, PS; and 0%, GS. For treatment of fractures, 98.8% selected OS; 1.2%, PS; and 0%, GS. For treatment of sports-related injuries, 99.2% selected OS; 0.4%, PS; and 0.4%, GS. For treatment of soft tissue masses, 65.5% selected OS; 23.0%, PS; and 11.5%, GS. For treatment of soft tissue coverage, 8.6% selected OS; 87.7%, PS; and 3.7%, GS. For treatment of skin cancer-related problems, 8.2% selected OS; 72.4%, PS; and 19.4%, GS. CONCLUSIONS: Referrals for arthritis, nerve decompressions, tendon injuries, fractures, and sports injuries are more likely to be referred to OS. Referrals for soft tissue coverage and skin cancers are more likely to be referred to PS. Nerve injuries and congenital deformities referrals were similar between orthopedic and PS. Further research should be conducted to determine why referral patterns vary among specialties with similarly trained hand surgeons.

Detailed analysis of the impact of surgeon and hospital volume in microsurgical breast reconstruction.

BACKGROUND: Prior investigations of microsurgical breast reconstruction have not distinguished the effects of surgeon versus hospital volume and failed to address the effect of patient clustering. Our data-driven analysis aims to determine the impacts of surgeon and hospital volume on outcomes of microsurgical breast reconstruction. METHODS: Nationwide Inpatient Sample (NIS) data from 2008 to 2011 was analyzed for patients who underwent microsurgical breast reconstruction. Volume-outcome relationships were analyzed with restricted cubic spline analysis. A multivariable mixed-effects logistic regression was used to account for patient clustering effect. RESULTS: A total of 5,404 NIS patients met inclusion criteria. High-volume (HV) surgeons had a 59% decrease in the risk of inpatient complications, which became non-significant after clustering correction. For HV hospitals, there was a 47% decrease in the risk of inpatient complications (odds ratio = 0.53; 95% confidence intervals 0.30, 0.91; p = 0.021) that was statistically significant with the clustering adjustment. Neither the volume-cost relationship for surgeons nor hospitals remained statistically significant after accounting for clustering. CONCLUSIONS: Hospital volume plays a significant impact on outcomes in microsurgical breast reconstruction, while surgeon volume has comparatively not shown to be similarly impactful. The complexity of care related to microsurgical breast reconstruction warrants equally complex and engineered health systems.

The Cost to Attending Surgeons of Resident Involvement in Academic Hand Surgery.

PURPOSE: For many types of surgical cases, there is an increase in length with the participation of a resident physician. The lost operative time productivity is not necessarily mitigated in any fashion other than to benefit the experience of the trainee. Moreover, increasing pressures to maximize productivity, coupled with diminishing reimbursements serve to disincentive resident involvement. The aim of this study was to examine the opportunity cost in the academic setting for intraoperative resident participation during specific hand surgery cases. METHODS: Retrospective analysis was performed on the American College of Surgeons National Surgical Quality Improvement Project (NSQIP) database from 2006 to 2015. Cases were identified by Current Procedural Terminology code to isolate distal radius fracture repairs, carpal tunnel releases, scaphoid fractures repairs, and metacarpal fracture repairs. Variables collected included operation time, presence or absence of resident physician, and postgraduate year level. Statistical analysis was performed using the statistical computing software R 3.4.2 (R Foundation for Statistical Computing, Vienna, Austria). Cost analysis was performed to quantify the effect of operative times in terms of relative value units (RVUs) lost. RESULTS: A total of 3727 cases were identified. Of those, 1264 cases were performed with a resident present. Residents participated in cases with higher total RVU (14.91 vs 13.16, P < 0.001). There was a statistically significant increase of 24.3 minutes (P < 0.001) in the mean operation time with a resident present as compared with those without. Moreover, RVU per hour in resident cases was significantly lower by 2.97 RVU per hour or 21% (P < 0.001). Using the late 2018 Medicare physician conversion factor of US $33.9996, the opportunity cost to attending physicians is US $159.20 per case. CONCLUSIONS: Resident participation in surgical cases is paramount to the education of future trainees, particularly in the era of trainee duty hour reform. Because residents are participating in higher total RVU cases, this selection bias may be playing a role in explaining our result. Nonetheless, resident involvement for certain procedures comes at an opportunity cost to faculty surgeons. How to balance the cost to train residents in the emerging value-based health systems will prove to be challenging but requires consideration.

Comparison of Reported Spinal Cord Lesions in Progressive Multiple Sclerosis with Theiler's Murine Encephalomyelitis Virus Induced Demyelinating Disease.

BACKGROUND: Spinal cord (SC) lesions in Theiler's murine encephalomyelitis virus induced demyelinating disease (TMEV-IDD) resemble important features of brain lesions in progressive multiple sclerosis (MS) including inflammation, demyelination, and axonal damage. The aim of the present study was a comparison of SC lesions in MS and TMEV-IDD focusing on spatial and temporal distribution of demyelination, inflammation, SC atrophy (SCA), and axonal degeneration/loss in major descending motor pathways. METHODS: TMEV and mock-infected mice were investigated clinically once a week. SC tissue was collected at 42, 98, 147, and 196 days post infection, and investigated using hematoxylin and eosin (HE) staining, immunohistochemistry targeting myelin basic protein (demyelination), Mac3 (microglia/macrophages), phosphorylated neurofilaments (axonal damage) and transmission electron microscopy. RESULTS: Demyelination prevailed in SC white matter in TMEV-IDD, contrasting a predominant gray matter involvement in MS. TMEV-infected mice revealed a significant loss of axons similar to MS. Ultrastructural analysis in TMEV-IDD revealed denuded axons, degenerative myelin changes, axonal degeneration, as well as remyelination. SCA is a consistent finding in the SC of MS patients and was also detected at a late time point in TMEV-IDD. CONCLUSION: This comparative study further indicates the suitability of TMEV-IDD as animal model also for the investigation of progressive SC lesions in MS.

Dynamic changes and molecular analysis of cell death in the spinal cord of SJL mice infected with the BeAn strain of Theiler's murine encephalomyelitis virus.

Theiler's murine encephalomyelitis (TME) is caused by the TME virus (TMEV) and represents an important animal model for multiple sclerosis (MS). Oligodendroglial apoptosis and reduced apoptotic elimination of encephalitogenic leukocytes seem to participate in autoimmune demyelination in MS. The present study quantified apoptotic cells in BeAn-TMEV-induced spinal cord white matter lesions at 14, 42, 98, and 196 days post infection (dpi) using immunostaining. Apoptotic cells were identified by transmission electron microscopy and double-immunofluorescence. The mRNA expression of apoptosis-related genes was investigated using microarray analysis. Oligodendroglial apoptosis was already detected in the predemyelinating phase at 14 dpi. Apoptotic cell numbers peaked at 42 dpi and decreased until 196 dpi partly due to reduced T cell apoptosis. In addition to genes involved in the classical pathways of apoptosis induction, microarray analysis detected the expression of genes related to alternative mechanisms of cell death such as pyroptosis, necroptosis, and endoplasmic reticulum stress. Consequently, oligodendroglial apoptosis is involved in the initiation of the TME demyelination process, whereas the development of apoptosis resistance of T cells potentially favors the maintenance of inflammation and myelin loss.

Symptoms and Signs of Heart Failure at Admission and Discharge and Outcomes in the Sub-Saharan Acute Heart Failure (THESUS-HF) Registry.

BACKGROUND: Symptoms and signs of heart failure (HF) are the most common reasons for admission to hospital for acute HF (AHF) and are used routinely throughout admission to assess the severity of disease and response to therapy. METHODS AND RESULTS: The data were collected in The Sub-Saharan Africa Survey on Heart Failure (THESUS-HF) study, a prospective, multicenter, observational survey of AHF from 9 countries in sub-Saharan Africa. A total of 1006 patients, ≥12 years of age, hospitalized for AHF were recruited. Symptoms and signs of HF and changes in dyspnea and well-being, relative to admission, were assessed at entry and on days 1, 2, and 7 (or on discharge if earlier) and included oxygen saturation, degree of edema and rales, body weight, and level of orthopnea. The patient determined dyspnea and general well-being, whereas the physician determined symptoms and signs of HF, as well as improvements in vital sign measurement, throughout the admission. After multivariable adjustment, baseline rales and changes to day 7 or discharge in general well-being predicted death or HF hospitalization through day 60, and baseline orthopnea, edema, rales, oxygen saturation, and changes to day 7 or on discharge in respiratory rate and general well-being were predictive of death through day 180. CONCLUSIONS: In AHF patients in sub-Saharan Africa, symptoms and signs of HF improve throughout admission, and simple assessments, including edema, rales, oxygen saturation, respiratory rate, and asking the patient about general well-being, are valuable tools in patients' clinical assessment.

Analysis of Surfing Injuries Presenting in the Acute Trauma Setting.

BACKGROUND AND PURPOSE: Surfing is a rapidly growing major worldwide sport; however, little is understood regarding severe injuries and resulting hospital admissions. This study explores surfing-related injuries in the major surfing hub of San Diego presenting in the acute trauma setting. The purpose of this study is to address the void of information regarding severe surfing injuries in the trauma setting, including injury patterns, associated hospitalization course, and risk factors. Understanding the injury patterns in surfing accidents is crucial for proper management of surfing injuries. METHODS: A retrospective analysis was performed of all surfing-related injuries in a Level 1 trauma center between 2000 and 2016. RESULTS: A total of 93 patients were identified. Body parts most commonly affected include the head (42, 46%), face (21, 22%), and spine (47, 51%). Twenty-eight (30%) patients required surgical intervention, including 19 for spinal injuries, 3 for facial injuries, 4 for upper extremity injuries, and 2 for lower extremity injuries. The distribution for most presentations (55, 59%) occurred in the summer months between July and September. The Injury Severity Score demonstrated strong positive correlation with the length of hospital stay, with a Pearson coefficient of 0.52 (P < 0.01). The average length of hospitalization was 5.8 days, with intensive care unit level care required in 49% (46) patients and average length of intensive care unit stay of 5.5 days. Alcohol content was tested in 84% (78) of patients and found positive in 10% (8) of tested patients. Drug screening was performed in 70% (64) patients and found positive in 38% (24) of tested patients. CONCLUSIONS: Surfing, although a relatively safe sport, is not without major risks. In contrast with other studies, we found a high proportion of head, face, and spine injuries in patients presenting with surfing injuries in the trauma setting, consistent with its presentation as a high velocity and high impact injury. With plastic surgeons often treating severe head and facial injuries, understanding the injury patterns in severe surfing accidents is crucial for proper management. High rates of positive alcohol and drug screening signal the importance to bring awareness to the dangers of surfing under the influence.

The effect of age on microsurgical free flap outcomes: An analysis of 5,951 cases.

BACKGROUND: The growing elderly population necessitates a greater number of aging patients requiring complex reconstructive surgery involving free tissue transfer. The purpose of this study was to assess the safety, efficacy, and outcomes of microsurgical free tissue transfer in elderly patients using a national multi-institutional database. METHODS: We performed a retrospective analysis of the American College of Surgeons National Surgical Quality Improvement Program (ACS NSQIP) database to identify patients undergoing free tissue transfer. We stratified cohorts based on ages 18-49, 50-59, 60-69, 70-79, and 80+ years and analyzed primary outcomes of surgical complications, medical complications, mortality, and flap failure. RESULTS: A total of 5,951 patients were identified for inclusion in the analysis. Univariate analysis demonstrated progressively increasing surgical (P = .001) and medical (P < .001) complication rates with increasing age. After controlling for confounding variables, age was not significantly associated with rates of surgical (OR 1.00, 95% CI 0.99-1.01, P = .737) or medical (OR 1.01, 95% CI 0.99-1.03, P = .209) complications, flap failure (OR 1.00, 95% CI 1.00-1.02, P = .689), or reoperation (OR 1.01, 95% CI 1.00-1.03, P = 0.165). Factors associated with surgical complications included BMI (OR 1.03, 95% CI 1.00-1.05, P = .031), prolonged operative time (OR 1.001, 95% CI 1.000-1.002, P = .002), American Society of Anesthesiologists (ASA) classification of 3 or greater (OR 1.62, 95% CI 1.17-2.23, P = .003), and prolonged hospitalization (OR 1.03, 95% CI 1.02-1.04, P < .001). ASA classification of 3 or greater (OR 2.57, 95% CI 1.48-4.45, P = .001), renal history (OR 10.13, 95% CI 1.57-65.55, P = .015), and prolonged hospitalization (OR 1.06, 95% CI 1.04-1.08, P < .001) were associated with medical complications. Age was associated with increased mortality (OR 1.06, 95% CI 1.00-1.13, P = .048). CONCLUSION: Age alone should not be used as an absolute or even relative contraindication in patient assessment. Rather, preoperative assessment should focus on comorbidities and assessment of physiologic age instead of chronologic age. Optimization of these comorbidities is key to sustaining favorable outcomes in microsurgical free flap reconstruction in the elderly population.

Demands and challenges for patients with sickle-cell disease requiring hematopoietic stem cell transplantation in Saudi Arabia.

Allogeneic HSCT is the only curative treatment for SCD. In this study, we estimated the number of Saudi patients with SCD who are candidates for HSCT. We used the presence of overt stroke, recurrent ACS, and frequent severe pain crisis as indications for HSCT. We calculated the frequencies of these complications among a Saudi SCD cohort of 376 patients with SCD, 250 from SW and 126 from Eastern (E) provinces. We found that 59 (23.6%) of SW patients were transplant candidates compared to 22 (17.4%) from E province. It is estimated that about 61 000 patients with SCD live in Saudi Arabia. Thus, the projected number of Saudi patients with SCD who are candidates for HSCT is 10 536 patients. Of those, 2148 are children. The burden of SCD on HSCT centers in Saudi Arabia is substantial and is difficult currently to meet the demand. We recommend recruiting/training more transplant physicians and nurses, expand current capacity of centers if feasible, and open new transplant centers to make HSCT a practical therapeutic option for patients with severe SCD in Saudi Arabia.

Single-Stage Reconstruction of Achilles Tendon and Overlying Tissue With the Extended Temporoparietal Fasciagaleal Flap--23-Year Follow-Up and the Review of the Literature.

In the absence of an established "gold standard" for complex Achilles tendon and regional soft tissue defect reconstruction, many techniques have been advocated. Two cases describing a novel technique of successful repair with the review of literature are presented. The underlying problem consisted of Achilles tendon necrosis with local inflammation in the first case and tendon contracture with foot malposition due to a burn injury in the other. Each patient, upon debridement, had a 6-cm Achilles tendon defect with associated overlying soft tissue deficits reconstructed with an extended temporoparietal fasciagaleal flap and a split thickness skin graft. Both cases highlight the successful functional and aesthetic quality as well as the durability of concurrent vascularized tendon and soft tissue replacement and coverage in 2 distinct clinical scenarios.

The enigma of primary and secondary encapsulating peritoneal sclerosis.

BACKGROUND: Encapsulating Peritoneal Sclerosis (EPS) describes a variety of diseases that are frequently confused with different names and different etiopathogeneses. The aim of this article is to report personal experience of focusing on correct classification and the status of current diagnosis and treatment. METHODS: A retrospective analysis was performed. Age, sex, ethnic origin, past medical history, symptoms and their duration, radiological tools and signs, laboratory tests, preoperative diagnosis, surgical approach, intraoperative findings, pathological findings, hospital stay, morbidity and mortality were studied. RESULTS: A total of seven patients, including six males and one female, aged from 24 to 72 years were observed. Four patients had recurrent abdominal colic pain for 3 months, 1, 2 and 9 years; two patients also reported recurrent attacks but without any specification of the duration. All seven patients presented at the emergency department with abdominal pain that was mainly diffused over the entire abdomen. Six patients were submitted to a CT scan. Only in two patients was the diagnosis of EPS made preoperatively. All seven patients were submitted to open surgery. The hospital stay was between 4 and 60 days. One patient had morbidity, and one patient died of MOF. CONCLUSIONS: Currently, the correct identification of EPS is more easily possible than in the past, but the diagnosis is still a challenge. Surgery must be performed as soon as possible to avoid a poorer quality of life.

Evaluation of Facial Volume Changes after Rejuvenation Surgery Using a 3-Dimensional Camera.

BACKGROUND: Surgical rejuvenation alters facial volume distribution to achieve more youthful aesthetic contours. These changes are routinely compared subjectively. The introduction of 3-dimensional (3D) stereophotogrammetry provides a novel method for measuring and comparing surgical results. OBJECTIVES: We sought to quantify how specific facial areas are changed after rejuvenation surgery using the 3D camera. METHODS: Patients undergoing facial rejuvenation were imaged preoperatively and postoperatively with 3D stereophotogrammetry. Images were registered using facial surface landmarks unaltered by surgery. Colorimetric 3D analysis depicting postoperative volume changes was performed utilizing the 3D imaging software and quantitative volume measurements were constructed. RESULTS: Nine patients who underwent combined facelift procedures and fat grafting were evaluated. Median time for postoperative imaging was 4.8 months. Positive changes in facial volume occurred in the forehead, temples, and cheeks (median changes, 0.9 mL ± 4.3 SD; 0.8 mL ± 0.47 SD; and 1.4 mL ± 1.6 SD, respectively). Negative changes in volume occurred in the nasolabial folds, marionette basins, and neck/submental regions (median changes, -1.0 mL ± 0.37 SD; -0.4 mL ± 0.9 SD; and -2.0 mL ± 4.3 SD, respectively). CONCLUSIONS: The technique of 3D stereophotogrammetry provides a tool for quantifying facial volume distribution after rejuvenation procedures. Areas of consistent volume increase include the forehead, temples, and cheeks; areas of negative volume change occur in the nasolabial folds, marionette basins, and submental/chin regions. This technology may be utilized to better understand the dynamic changes that occur with facial rejuvenation and quantify longevity of various rejuvenation techniques. LEVEL OF EVIDENCE: 4 Diagnostic.

Co-inheritance of novel ATRX gene mutation and globin (α & ß) gene mutations in transfusion dependent beta-thalassemia patients.

α-Thalassemia X-linked mental retardation syndrome is a rare inherited intellectual disability disorder due to mutations in the ATRX gene. In our previous study of the prevalence of ß-thalassemia mutations in the Eastern Province of Saudi Arabia, we confirmed the widespread coinheritance of α-thalassemia mutation. Some of these subjects have a family history of mental retardation, the cause of which is unknown. Therefore, we investigated the presence or absence of mutations in the ATRX gene in these patients. Three exons of the ATRX gene and their flanking regions were directly sequenced. Only four female transfusion dependent ß-thalassemia patients were found to be carriers of a novel mutation in the ATRX gene. Two of the ATRX gene mutations, c.623delA and c.848T>C were present in patients homozygous for IVS I-5(G→C) and homozygous for Cd39(C → T) ß-thalassemia mutation, respectively. While the other two that were located in the intronic region (flanking regions), were present in patients homozygous for Cd39(C → T) ß-thalassemia mutation. The two subjects with the mutations in the coding region had family members with mental retardation, which suggests that the novel frame shift mutation and the missense mutation at coding region of ATRX gene are involved in ATRX syndrome.

Palliative reconstructive surgery may improve quality of life in high functioning noncurable head and neck oncologic patients.

BACKGROUND: Treatment recommendations for palliative patients are guided by functional status and individual needs. The projected success of palliative procedures relies on estimating the risk: benefit ratio, which weighs the expected improvement in life quality to the frailty, metabolic status, and the individual's ability to heal after surgery. Terminal patients have less time in which to judge outcomes; therefore, the timeframe in which we assess these metrics should be modified according to prognosis. We emphasize efficiency over simplicity for reconstructive palliative surgery. METHODS: We reviewed the literature and supply a representative case to contribute our experiences for the palliative reconstructive surgeon to use in the evaluation and treatment of incurable patients. RESULTS: Palliative reconstructive surgery carries higher perioperative risk than standard reconstructive surgery; however, aggressive surgical management can improve quality of life. We find the Palliative Performance Scale-a functional, prognostic tool-to be a helpful metric for preoperative evaluation. CONCLUSIONS: Reconstructive palliative surgery can improve quality of life in dying patients (ie, pain, wound hygiene, and so on) and may even improve survival. We advocate prioritizing efficiency in completing the reconstructive process, which may not be the simplest or least invasive.