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Rhinoplasty is one of the most performed elective surgeries, and given the opioid crisis, increasing research and studies are focused on successful pain control with multimodality opioid-sparing techniques, such as acetaminophen, nonsteroidal anti-inflammatory drugs (NSAIDs), and gabapentin. Although limiting overuse of opioids is critical, this cannot be at the expense of inadequate pain control, particularly as insufficient pain control can be correlated with patient dissatisfaction and the postoperative experience in elective surgery. There is likely significant opioid overprescription, as patients often report taking less than 50% of their prescribed opioids. Furthermore, excess opioids provide opportunities for misuse and opioid diversion if not disposed of properly. To optimize postoperative pain control and minimize opioid requirements, interventions must occur at the preoperative, intraoperative, and postoperative time points. Preoperative counseling is imperative to set expectations for pain and to screen for predisposing factors for opioid misuse. Intraoperatively, use of local nerve blocks and long-acting analgesia in conjunction with modified surgical techniques can lead to prolonged pain control. Postoperatively, pain should be managed with a multimodal approach, incorporating acetaminophen, NSAIDs, and potentially gabapentin with opioids reserved for rescue analgesia. Rhinoplasty represents a category of short-stay, low/medium pain, and elective procedures highly susceptible to overprescription and consequently, are readily amenable to opioid minimization through standardized perioperative interventions. Recent literature on regimens and interventions to help limit opioids after rhinoplasty are reviewed and discussed here.
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Analgésicos Opioides , Rinoplastia , Humanos , Analgésicos Opioides/uso terapêutico , Acetaminofen/uso terapêutico , Gabapentina/uso terapêutico , Rinoplastia/efeitos adversos , Dor Pós-Operatória/tratamento farmacológico , Dor Pós-Operatória/etiologia , Dor Pós-Operatória/prevenção & controle , Anti-Inflamatórios não Esteroides/uso terapêuticoRESUMO
BACKGROUND: Hair loss causes significant psychosocial distress to patients. Health utility measurements offer an objective, quantitative assessment of health-related quality of life (QOL). METHODS: We performed a prospective cohort study on patients with hair loss between January 1, 2018 and December 31, 2020. Patient metrics were compared with layperson perception of alopecia, prospectively collected between August 1 and December 31, 2017. Health utility measures were quantified using the visual analog scale (VAS), standard gamble (SG), and time trade-off (TTO) in quality-adjusted life-years (QALYs) and relative to the minimal clinically important difference (MCID). Bonferroni correction to the significance threshold was performed. RESULTS: Thirty-one patients with alopecia were compared with 237 laypeople. Patient metrics for female hair loss were all significantly lower than laypeople measures (VAS QALYs 0.65 ± 0.21 vs. 0.83 ± 0.18, p = 0.0001). Mean SG QALYs were lower for patients in the male alopecia state (0.86 ± 0.23 vs. 0.96 ± 0.12, p = 0.0278). Post-hair transplant improvement in TTO was significantly greater for patients (+ 0.08 ± 0.12 vs. + 0.02 ± 0.09, p = 0.0070) and significantly more often exceeded the MCID (45.2% vs. 16.9%, p = 0.0006). CONCLUSIONS: Alopecia negatively impacts QOL, and the true patient experience is more taxing than what is perceived by laypeople. Hair transplantation improves QOL more for male patients than common perception. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .
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Alopecia , Qualidade de Vida , Humanos , Masculino , Feminino , Estudos Prospectivos , Alopecia/diagnóstico , Alopecia/cirurgia , Cabelo , Anos de Vida Ajustados por Qualidade de VidaRESUMO
OBJECTIVE: Infected arteriovenous grafts necessitate intervention to obtain source control. However, excising the graft material can be challenging and can lead to complications. Leaving a cuff of graft at the sites of anastomosis allows for the avoidance of potential risks. However, it is unclear whether doing so places patients at risk of recurrent graft infection. The purpose of the present study was to investigate the effect of complete vs partial excision of infected arteriovenous prosthetic dialysis access grafts. METHODS: The data from all patients who had undergone surgical intervention for infected arteriovenous grafts at a single institution were retrospectively reviewed. The patients were grouped according to intervention type: complete excision and partial excision of arteriovenous prosthetic grafts. Partial excisions were further substratified based on whether flow had been restored through the arteriovenous access. The primary outcome was freedom from subsequent intervention for infection, defined as the number of days from excision to subsequent reoperation for reinfection. Freedom from infection was analyzed using the Kaplan-Meier method. RESULTS: A total of 117 patients had undergone surgical intervention for 122 infected arteriovenous grafts from 2003 to 2016. Of these 117 patients, 79 (64.8%) had undergone partial excision of infected arteriovenous grafts, and 43 (35.2%) had undergone complete excision with vascular repair. Within the partial excision cohort, 71 infected arteriovenous grafts (58.2%) were not flow restored and 8 (6.6%) were flow restored using either prosthetic or autogenous interpositions. The median follow-up time was 2.4 years (interquartile range, 0.6-4.5 years). The most common causative organisms included methicillin-resistant Staphylococcus aureus (n = 34; 27.9%), methicillin-sensitive S. aureus (n = 17; 13.9%), and S. epidermidis (n = 15; 12.3%). The recurrent infection rate in the partial excision group was 16.5% (n = 13) compared with 2.3% (n = 1) in the complete excision group. In the flow-restored subcohorts, those with restoration using prosthetic interposition grafts had the greatest reinfection rate at 57.1% (n = 4), and those with restoration using autogenous conduits did not experience reinfection (P = .033). CONCLUSIONS: Incomplete excision of infected arteriovenous prosthetic grafts was associated with a higher rate of reinfection compared with complete graft excision. Complete excision presents technical challenges but could provide superior source control in managing infected dialysis access. Complete excision with vascular reconstruction should be performed when possible to avoid leaving remnant prosthetic material.
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Derivação Arteriovenosa Cirúrgica/efeitos adversos , Implante de Prótese Vascular/efeitos adversos , Prótese Vascular/efeitos adversos , Remoção de Dispositivo , Infecções Relacionadas à Prótese/cirurgia , Diálise Renal , Derivação Arteriovenosa Cirúrgica/instrumentação , Implante de Prótese Vascular/instrumentação , Remoção de Dispositivo/efeitos adversos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Intervalo Livre de Progressão , Infecções Relacionadas à Prótese/diagnóstico , Infecções Relacionadas à Prótese/microbiologia , Infecções Relacionadas à Prótese/fisiopatologia , Recidiva , Reoperação , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Fatores de Tempo , Grau de Desobstrução VascularRESUMO
BACKGROUND: Revascularization after lower extremity bypass failure poses many challenges. Despite nearly 7 decades of experience with lower extremity revascularization, there is little data on the success of redo bypass particularly when autogenous conduit is utilized. The purpose of this study is to review outcomes of redo infrainguinal bypass constructed solely of autogenous vein. METHODS: All patients who underwent redo infrainguinal bypass at a single institution by a single surgeon were retrospectively reviewed. Bypasses were categorized into 3 groups: femoral-popliteal, femoral-distal, and popliteal-distal bypasses. Since the repeat bypasses were all done for limb salvage, freedom from above or below knee amputation (FFA) was primary outcome, which was defined as the number of days from redo bypass to subsequent amputation or the most recent follow-up. RESULTS: From 2006 to 2016, 100 limbs underwent redo bypass. Fifty-nine (59.0%) limbs had undergone one previous bypass while 41 (41.0%) had undergone 2 or more. The redo configurations consisted of 23 (23.0%) femoral-popliteal, 70 (70.0%) femoral-distal, and 7 (7.0%) popliteal-distal bypasses. Ninety-seven (97.0%) underwent redo using autologous vein grafts including 41 (95.5%) of those who had 2 or more previous bypasses. The 3 patients who ultimately underwent prosthetic bypass had bilateral great and small saphenous veins and bilateral basilic and cephalic veins previously harvested. Nine (9.0%) limbs were subsequently amputated: 2 (2.0%) above knee and 7 (7.0%) below knee amputations. Of these, all had had 2 or more previous bypasses and 2 of the 3 patients who ultimately received prosthetic bypasses were in this group. In patients with one previous bypass, FFA was 775 days (IQR: 213-1,626 days). In patients with 2 or more previous bypasses, FFA was 263 days (IQR: 106-1,148 days). No patients with femoral-popliteal bypasses suffered amputation while 7 (10.0%) of the femoral-distal and 2 (28.6%) of the popliteal-distal bypasses suffered subsequent amputations (P = 0.067). CONCLUSIONS: Redo infrainguinal bypass is effective in salvaging threatened lower extremities. Furthermore, once a patient is deemed a bypass candidate, revascularization with autologous vein can be achieved. A significant FFA rate is achieved with redo bypass, although patients with more distal disease are harder to salvage.
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Implante de Prótese Vascular , Oclusão de Enxerto Vascular/cirurgia , Extremidade Inferior/irrigação sanguínea , Doença Arterial Periférica/cirurgia , Veias/transplante , Idoso , Amputação Cirúrgica , Baltimore , Implante de Prótese Vascular/efeitos adversos , Feminino , Oclusão de Enxerto Vascular/diagnóstico por imagem , Oclusão de Enxerto Vascular/fisiopatologia , Humanos , Salvamento de Membro , Masculino , Pessoa de Meia-Idade , Doença Arterial Periférica/diagnóstico por imagem , Doença Arterial Periférica/fisiopatologia , Reoperação , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Grau de Desobstrução VascularRESUMO
Epileptic encephalopathies are a catastrophic group of epilepsies characterized by refractory seizures and cognitive arrest, often resulting from abnormal brain development. Here, we have identified an epileptic encephalopathy additionally featuring cerebral calcifications and coarse facial features caused by recessive loss-of-function mutations in DENND5A. DENND5A contains a DENN domain, an evolutionarily ancient enzymatic module conferring guanine nucleotide exchange factor (GEF) activity to multiple proteins serving as GEFs for Rabs, which are key regulators of membrane trafficking. DENND5A is detected predominantly in neuronal tissues, and its highest levels occur during development. Knockdown of DENND5A leads to striking alterations in neuronal development. Mechanistically, these changes appear to result from upregulation of neurotrophin receptors, leading to enhanced downstream signaling. Thus, we have identified a link between a DENN domain protein and neuronal development, dysfunction of which is responsible for a form of epileptic encephalopathy.
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Encéfalo/patologia , Epilepsia/genética , Mutação , Proteínas rab de Ligação ao GTP/genética , Adolescente , Animais , Criança , Consanguinidade , Feminino , Fatores de Troca do Nucleotídeo Guanina , Humanos , Masculino , Neurônios/metabolismo , Células PC12 , Linhagem , RatosRESUMO
BACKGROUND: Renal transplant recipients often maintain their hemodialysis access in the event of future allograft failure. Patients may develop complications related to the unused dialysis access, and it also limits vein availability for phlebotomy. Accordingly, a change in the current paradigm may be warranted. This study evaluates the indications for, and safety of, arteriovenous fistula (AVF) removal in patients after successful renal transplantation. METHODS: All patients who underwent AVF excision at a single institution from 2006 to 2016 were retrospectively reviewed. Within that cohort, those undergoing removal after renal transplantation were included for analysis. Baseline patient characteristics, including renal function at the time of removal, reason for excision, and age of the AVF, were examined. The primary outcome was the need for dialysis after AVF removal. RESULTS: A total of 114 patients, of which 36 (31.6%) were recipients of renal transplants, underwent fistula removal during the study period. Within the transplant cohort, the median fistula age at the time of excision was 1,903 days (interquartile range: 556-3,394 days). The most common indications for excision included aneurysmal degeneration (n = 9, 25%), pain (n = 6, 16.7%), upper extremity steal syndrome (n = 5, 13.9%), thrombosis (n = 5, 13.9%), high cardiac output heart failure (n = 4, 11%), and extremity swelling secondary to venous hypertension (n = 2, 5.6%). Most patients (30, 83.3%) had intact graft function. Average creatinine and eGFR at the time of excision in these patients were 1.6 mg/dL and 52.3 mL/min/m2, respectively. Two of these 30 patients (6.7%), who had creatinine values of 2.0 and 9.7 mg/dL, went on to require dialysis following excision. The remaining 28 have maintained normal renal function with improvement in their preoperative symptomatology. Two patients (5.6%) experienced postoperative complications-a hematoma requiring evacuation and a superficial wound infection requiring oral antibiotics. CONCLUSIONS: Removal of symptomatic, unused AVFs can be performed safely in renal transplant recipients. Considering the morbidity associated with large AVFs (including high output cardiac failure), the current paradigm of maintaining asymptomatic hemodialysis access in patients with normally functioning renal transplants should be reconsidered.
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Derivação Arteriovenosa Cirúrgica , Nefropatias/terapia , Transplante de Rim , Complicações Pós-Operatórias/cirurgia , Diálise Renal , Idoso , Derivação Arteriovenosa Cirúrgica/efeitos adversos , Feminino , Humanos , Nefropatias/diagnóstico , Nefropatias/fisiopatologia , Ligadura , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do TratamentoRESUMO
UNLABELLED: How the integrity of laminar structures in the postnatal brain is maintained impacts neuronal functions. Ndel1, the mammalian homolog of NuDE from the filamentous fungus Aspergillus nidulans, is an atypical microtubule (MT)-associated protein that was initially investigated in the contexts of neurogenesis and neuronal migration. Constitutive knock-out mice for Ndel1 are embryonic lethal, thereby necessitating the creation a conditional knock-out to probe the roles of Ndel1 in postnatal brains. Here we report that CA1 pyramidal neurons from mice postnatally lacking Ndel1 (Ndel1 conditional knock-out) exhibit fragmented MTs, dendritic/synaptic pathologies, are intrinsically hyperexcitable and undergo dispersion independently of neuronal migration defect. Secondary to the pyramidal cell changes is the decreased inhibitory drive onto pyramidal cells from interneurons. Levels of the glycoprotein Reelin that regulates MTs, neuronal plasticity, and cell compaction are significantly reduced in hippocampus of mutant mice. Strikingly, a single injection of Reelin into the hippocampus of Ndel1 conditional knock-out mice ameliorates ultrastructural, cellular, morphological, and anatomical CA1 defects. Thus, Ndel1 and Reelin contribute to maintain postnatal CA1 integrity. SIGNIFICANCE STATEMENT: The significance of this study rests in the elucidation of a role for Nde1l and Reelin in postnatal CA1 integrity using a new conditional knock-out mouse model for the cytoskeletal protein Ndel1, one that circumvents the defects associated with neuronal migration and embryonic lethality. Our study serves as a basis for understanding the mechanisms underlying postnatal hippocampal maintenance and function, and the significance of decreased levels of Ndel1 and Reelin observed in patients with neurological disorders.
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Região CA1 Hipocampal/crescimento & desenvolvimento , Região CA1 Hipocampal/metabolismo , Moléculas de Adesão Celular Neuronais/metabolismo , Proteínas de Ciclo Celular/metabolismo , Proteínas da Matriz Extracelular/metabolismo , Regulação da Expressão Gênica no Desenvolvimento/fisiologia , Proteínas do Tecido Nervoso/metabolismo , Serina Endopeptidases/metabolismo , Fatores Etários , Animais , Animais Recém-Nascidos , Região CA1 Hipocampal/ultraestrutura , Proteína Quinase Tipo 2 Dependente de Cálcio-Calmodulina/genética , Proteína Quinase Tipo 2 Dependente de Cálcio-Calmodulina/metabolismo , Moléculas de Adesão Celular Neuronais/genética , Moléculas de Adesão Celular Neuronais/farmacologia , Proteínas de Ciclo Celular/genética , Dendritos/metabolismo , Dendritos/ultraestrutura , Proteínas da Matriz Extracelular/genética , Proteínas da Matriz Extracelular/farmacologia , Regulação da Expressão Gênica no Desenvolvimento/efeitos dos fármacos , Regulação da Expressão Gênica no Desenvolvimento/genética , Glutamato Descarboxilase/metabolismo , Técnicas In Vitro , Potenciais da Membrana/efeitos dos fármacos , Potenciais da Membrana/genética , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Proteínas Associadas aos Microtúbulos , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/farmacologia , Neurônios/efeitos dos fármacos , Neurônios/metabolismo , Neurotransmissores/farmacologia , Proteína Reelina , Serina Endopeptidases/genética , Serina Endopeptidases/farmacologia , Coloração pela Prata , Sinapses/metabolismo , Sinapses/ultraestruturaRESUMO
INTRODUCTION: Hypoglossal nerve stimulation was recently FDA approved for use in children with Down Syndrome and persistent obstructive sleep apnea. Although there is a robust experience in hypoglossal nerve stimulation in adults, we observed several challenges that are unique to providing this therapy to a complex pediatric population with a high rate of sensory processing disorders. We sought to review the adverse events and challenges to inform clinicians as hypoglossal nerve stimulation becomes a more accessible option for this complex population. METHODS: Retrospective case series of children with Down Syndrome and persistent OSA who underwent hypoglossal nerve stimulation. Inclusion and exclusion criteria included Down Syndrome, age 10-22 years, persistent severe OSA after adenotonsillectomy (AHI>10 with <25 % central or mixed events), inability to tolerate positive airway pressure, and absence of concentric palatal collapse on sleep endoscopy. Patients were identified and their charts were reviewed. Adverse events and their subsequent management were recorded. The major outcome variable was the total number of adverse events. RESULTS: A total of 53 patients underwent implantation of a hypoglossal nerve stimulator; 35 (66 %) patients were male and the average age at implantation was 15.1 years (standard deviation 3.0y). A total of 30 adverse events were noted, including 17 nonserious and 13 serious. The most common nonserious complications included temporary tongue discomfort, rash at the surgical site, and cellulitis. Serious complications included readmission (for cellulitis, pain, and device extrusion), reoperation (most commonly for battery depletion) and pressure ulcer formation. CONCLUSION: Hypoglossal nerve stimulation provides a much-needed therapy for children with DS and persistent OSA after adenotonsillectomy. Although there is a robust experience in providing this treatment to adults, many considerations must be made when adapting this technology to a pediatric population with a high rate of sensory processing disorders.
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Síndrome de Down , Terapia por Estimulação Elétrica , Apneia Obstrutiva do Sono , Adulto , Humanos , Masculino , Criança , Adolescente , Adulto Jovem , Feminino , Nervo Hipoglosso/fisiologia , Síndrome de Down/complicações , Estudos Retrospectivos , Celulite (Flegmão) , Polissonografia , Terapia por Estimulação Elétrica/efeitos adversos , Apneia Obstrutiva do Sono/cirurgiaRESUMO
BACKGROUND: Rwanda has aimed to rebuild its health care system since the Rwandan genocide against the Tutsis in 1994, though one of the challenges has been a scarcity of radiologic resources. OBJECTIVE: To assess the location and accessibility of radiologic facilities in Rwanda using geospatial mapping and population-based data. METHODS: A cross-sectional study was conducted in May 2023 using location and radiologic modality data provided by the Department of Radiology at the University Teaching Hospital of Kigali and the WorldPop database, a publicly available database providing open-access geospatial population data. Radiologic equipment included magnetic resonance (MR), computed tomography (CT), positron emission tomography (PET), radiotherapy, X-ray, mammography, and fluoroscopy machines. Geospatial analysis was performed using ArcGIS Pro 2.8.6 software. RESULTS: Fifty-six radiologic facilities were identified, including 5 MR, 7 CT, 1 radiotherapy, 52 X-ray, 5 mammography, 5 fluoroscopy, and 0 PET machines. There were 0.4 MR, 0.5 CT, 0 PET, 0.1 radiotherapy, 3.9 X-ray, 0.4 mammography, and 0.4 fluoroscopy units per 1 million people. CONCLUSION: Rwanda is one of the countries with the lowest radiologic access in East Africa; however, there is evidence of progress, particularly in more advanced diagnostic imaging techniques such as computed tomography and magnetic resonance imaging. CRITICAL RELEVANCE STATEMENT: This study provides a 10-year update on current radiologic resources and access in Rwanda, identifying areas of progress and ongoing scarcity, serving as a guide for future direction of growth. KEY POINTS: ⢠As Rwanda works on rebuilding its health care system, this study provides an assessment of the current radiologic resources within the country. ⢠There is less than one radiologic unit for every million of the Rwandan population for every imaging modality other than X-ray. ⢠While radiologic access in Rwanda lags behind that of its neighbors, there has been growth focused on advanced imaging modalities and the training of human resources.
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PURPOSE OF REVIEW: Patients with cleft lip -palate (CLP) experience morbidity and social stigma, particularly in low-income and middle-income countries (LMICs) such as those of sub-Saharan Africa (SSA). Delays in treatment secondary either to lack of awareness, skills, equipment and consumables; poor health infrastructure, limited resources or a combination of them, has led to SSA having the highest rates of death and second highest rates of disability-adjusted life years in patients with CLP globally. Here we review current perspectives on the state of comprehensive cleft lip and palate repair in Africa. RECENT FINDINGS: To bridge gaps in government health services, nongovernmental organizations (NGOs) have emerged to provide care through short-term surgical interventions (STSIs). These groups can effect change through direct provision of care, whereas others strengthen internal system. However, sustainability is lacking as there continue to be barriers to achieving comprehensive and longitudinal cleft care in SSA, including a lack of awareness of CLP as a treatable condition, prohibitive costs, poor follow-up, and insufficient surgical infrastructure. With dedicated local champions, a comprehensive approach, and reliable partners, establishing sustainable CLP services is possible in countries with limited resources. SUMMARY: The replacement of CLP 'missions' with locally initiated, internationally supported capacity building initiatives, integrated into local healthcare systems will prove sustainable in the long-term.
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Fenda Labial , Fissura Palatina , Fissura Palatina/cirurgia , Humanos , Fenda Labial/cirurgia , África Subsaariana/epidemiologia , Países em Desenvolvimento , África/epidemiologia , Atenção à Saúde/organização & administração , Acessibilidade aos Serviços de SaúdeRESUMO
Essential tremor (ET) and Parkinson's disease (PD) are common chronic movement disorders that can cause a substantial degree of disability. However, the etiology underlying these two conditions remains poorly understood. In the present study, Whole-exome sequencing of peripheral blood samples from the proband and Sanger sequencing of the other 18 family members, and pedigree analysis of four generations of 29 individuals with both ET and PD in a nonconsanguineous Chinese family were performed. Specifically, family members who had available medical information, including historical documentation and physical examination records, were included. A novel c.1909A>T (p.Ser637Cys) missense mutation was identified in the eukaryotic translation initiation factor 4γ1 (EIF4G1) gene as the candidate likely responsible for both conditions. In total, 9 family members exhibited tremor of the bilateral upper limbs and/or head starting from ages of ≥40 years, 3 of whom began showing evidence of PD in their 70s. Eukaryotic initiation factor 4 (eIF4)G1, a component of the translation initiation complex eIF4F, serves as a scaffold protein that interacts with many initiation factors and then binds to the 40S ribosomal subunit. The EIF4G1 (p.Ser637Cys) might inhibit the recruitment of the mRNA to the ribosome. In conclusion, the results from the present study suggested that EIF4G1 may be responsible for the hereditary PD with 'antecedent ET' reported in the family assessed.
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Background: Facial filler is emerging as a nonsurgical alternative for addressing static asymmetry in facial paralysis (FP). Objectives: To elucidate the patient experience for facial filler and to facilitate preprocedure counseling and education. Materials and Methods: Patients receiving hyaluronic acid filler for FP at a tertiary academic medical center were prospectively recruited. Primary outcomes included patient-reported pain, facial symmetry (on a visual analog scale), and the results of quality-of-life surveys (FACE-Q satisfaction with facial appearance [SFA], FACE-Q psychosocial distress [PSD], Patient Health Questionnaire-9 [PHQ-9], and Euro Quality of Life 5-Dimension [EQ5D]) preprocedure and at 1 and 14 days postprocedure. Results: Twenty patients (90% women, average age 55 ± 11) completed the study. Sites of filler included the cheek, lower lip, nasolabial fold, chin, and temple regions. Patients reported minimal pain at postprocedure days (PPDs) 1 and 14. Patient-perceived symmetry scores improved significantly (p < 0.0001), as did FACE-Q SFA and FACE-Q PSD scores (p < 0.0001, <0.0001) when comparing preprocedure with PPD 14. Depression, assessed by PHQ-9, and the anxiety/depression domain of EQ5D, decreased after treatment (p = 0.016, 0.014) but no change was observed in the other domains of EQ5D. Conclusion: Facial filler for FP can be performed with minimal morbidity (pain, impact on daily routine, and complications) and leads to improvements across multiple psychosocial domains.
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Lactic acid bacteria (LAB) are recognized as food-grade safe microorganisms and have many beneficial effects. LAB could maintain the host intestinal homeostasis and regulate intestinal microbial community to exert antibacterial effects. In this study, Lactiplantibacillus plantarum (L. plantarum, Lp01) strain isolated from pig intestine was orally administered to C57BL/6 mice, and mice were then infected with Salmonella typhimurium (ATCC14028). The protective effects of L. plantarum were evaluated by monitoring body weight loss, survival rates, bacterial loads in tissue, colon histopathology analysis, and cytokine secretion. 16S rRNA gene sequencing was also utilized to detect the dynamics of the blind gut microbial community in mice. We found that L. plantarum could significantly reduce the body weight loss and improve the survival rates. The survival rate in the L. P-Sty group was up to 67.5%, which was much higher than that in the STY group (25%). Counting of bacterial loads displayed that the colony-forming unit (CFU) of S. typhimurium in the spleen (p < 0.05) and the liver (p < 0.05) from L. P-Sty group both decreased, compared with STY group. Intestinal histopathology showed that it alleviated the intestinal injury caused by Salmonella, inhibited the secretion of pro-inflammatory cytokines, and promoted anti-inflammatory cytokines (p < 0. 01). In addition, L. plantarum also significantly ameliorated the intestinal gut microbiome disturbance caused by Salmonella. It displayed an obvious increase of beneficial bacteria including Lactobacillus and Bacteroidetes and reduction of pathogenic bacteria like Proteobacteria. In conclusion, L. plantarum could regulate microbial community to inhibit Salmonella typhimurium infection.
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Microbioma Gastrointestinal , Lactobacillus plantarum , Probióticos , Infecções por Salmonella , Camundongos , Animais , Suínos , Salmonella typhimurium/fisiologia , Citocinas , RNA Ribossômico 16S/genética , Camundongos Endogâmicos C57BL , Infecções por Salmonella/tratamento farmacológico , Infecções por Salmonella/microbiologia , Lactobacillus plantarum/fisiologia , Redução de PesoRESUMO
Hereditary spastic paraplegia (HSP) comprises a group of hereditary and neurodegenerative diseases that are characterized by axonal degeneration or demyelination of bilateral corticospinal tracts in the spinal cord; affected patients exhibit progressive spasticity and weakness in the lower limbs. The most common manifestation of HSP is spastic paraplegia type 4 (SPG4), which is caused by mutations in the spastin (SPAST) gene. The present study reports the clinical characteristics of affected individuals and sequencing analysis of a mutation that caused SPG4 in a family. All affected family members exhibited spasticity and weakness of the lower limbs and, notably, only male members of the family were affected. Wholeexome sequencing revealed that all affected individuals had a novel c.1785C>A (p. Ser595Arg) missense mutation in SPAST. Bioinformatics analysis revealed changes in both secondary and tertiary structures of the mutated protein. The novel missense mutation in SPAST supported the diagnosis of SPG4 in this family and expands the spectrum of pathogenic mutations that cause SPG4. Analysis of SPAST sequences revealed that most pathogenic mutations occurred in the AAA domain of the protein, which may have a close relationship with SPG4 pathogenesis.
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Paraplegia Espástica Hereditária , Humanos , Masculino , Paraplegia Espástica Hereditária/genética , Paraplegia Espástica Hereditária/diagnóstico , Paraplegia Espástica Hereditária/patologia , Mutação de Sentido Incorreto , Espastina/genética , MutaçãoRESUMO
BACKGROUND: Spinocerebellar ataxia recessive type 7 (SCAR7) is a rare clinical manifestation beginning in childhood or adolescence. SCAR7 is caused by tripeptidyl peptidase 1 (TPP1) gene mutations, and presents with cerebellar ataxia, pyramidal signs, neurocognitive impairment, deep paresthesia, and cerebellar atrophy. CASE SUMMARY: Here, we describe a 25-year-old female patient in China who presented with increasing difficulty walking, falling easily, shaking limbs, instability holding items, slurred speech, coughing when drinking, palpitations, and frequent hunger and overeating. Magnetic resonance imaging showed cerebellar atrophy. Whole exome sequencing detected two compound heterozygous mutations in the TPP1 gene: c.1468G>A p.Glu490Lys and c.1417G>A p.Gly473Arg. Considering the patient's clinical presentation and genetic test results, we hypothesized that complex heterozygous mutations cause TPP1 enzyme deficiency, which may lead to SCAR7. CONCLUSION: We report the first case of SCAR7 from China. We also identify novel compound heterozygous mutations in the TPP1 gene associated with SCAR7, expanding the range of known disease-causing mutations for SCAR7.
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BACKGROUND: Adenylosuccinate lyase (ADSL) deficiency is a rare autosomal-recessive defect of purine metabolism caused by mutation of the ADSL gene. It can cause severe neurological impairment and diverse clinical manifestations, including epilepsy. CASE SUMMARY: Here, we describe a 3-year-old Chinese boy who had both psychomotor retardation and refractory epilepsy. Magnetic resonance imaging showed myelin hypoplasia. Electroencephalography findings supported a diagnosis of epilepsy. Whole-exon sequencing revealed the presence of a novel complex heterozygous mutation in the ADSL gene: The splicing mutation c.154-3C>G and the missense mutation c.71C>T (p. Pro24Leu). Considering the patient's clinical presentation and genetic test results, the complex heterozygous mutation was predicted to prevent both ADSL alleles from producing normal ADSL, which may have led to ADSL deficiency. Finally, the child was diagnosed with ADSL deficiency. CONCLUSION: We identified a novel complex heterozygous mutation in the ADSL gene associated with ADSL deficiency, thus expanding the known spectrum of pathogenic mutations that cause ADSL deficiency. Additionally, we describe epilepsy that occurs in patients with ADSL deficiency.
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Importance: The free functional gracilis flap (FFGF) is a versatile procedure in reanimating the paralyzed face, yet its application in seniors is limited by perceptions of morbidity and inefficacy. Objective: The study objective was to compare the morbidity and effectiveness of FFGF reanimation among senior and younger patients. Design, Setting, and Participants: A retrospective chart review was performed on 20 consecutive patients aged 60 years and above (seniors) and 35 patients aged 40 years and below (juniors) who underwent FFGF for facial reanimation. Among this group, 16 senior and 22 junior patients with available long-term follow-up data were analyzed for functional outcomes. Main Outcomes and Measures: The length of postoperative stay and postoperative complications were compared with assess immediate results. A second analysis for functional outcomes was assessed by resting and smile facial asymmetry index (FAI), as well as maxillary dental display to compare facial tone and lip excursion. Results: The average age of seniors was 67 ± 5 years and that of juniors was 27 ± 10 years. Mean lengths of postoperative stay were 4 ± 2 versus 3 ± 1 days in seniors versus Juniors, respectively (p = 0.16). There were no intraoperative complications and postoperative complications in one (5%) senior and four (11%) juniors (p = 0.64). There was functional muscle recovery in all cases, with more pronounced correction of both resting (Δ3.0 mm vs. Δ2.4 mm, p = 0.66) and dynamic (Δ5.2 mm vs. Δ4.2 mm, p = 0.37) FAI in seniors than in juniors. Among patients who underwent a multivector FGFF, there was an additional three versus one visualized maxillary teeth (p = 0.03) in seniors versus juniors, respectively. Conclusions and Relevance: The FFGF is effective for facial reanimation among seniors and can be performed with minimal morbidity. Age alone should not preclude the application of the FFGF in seniors with a preference for more dynamic options.
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Paralisia Facial/cirurgia , Retalhos de Tecido Biológico/transplante , Músculo Grácil/transplante , Procedimentos de Cirurgia Plástica/métodos , Complicações Pós-Operatórias/etiologia , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/epidemiologia , Recuperação de Função Fisiológica , Estudos Retrospectivos , Fatores de Risco , Sorriso , Resultado do Tratamento , Adulto JovemRESUMO
Importance: Hypocalcemia is a common complication of total thyroidectomy. Objectives: To identify factors associated with hypocalcemia after total thyroidectomy and to explore the association between hypocalcemia, magnesium disorders, and costs of care. Design, Setting, and Participants: A retrospective cross-sectional analysis was performed using data from the MarketScan Commercial Claim and Encounters database on 126â¯766 commercially insured patients younger than 65 years undergoing total thyroidectomy between January 1, 2010, and December 31, 2012. Statistical analysis was performed from January 1, 2016, to May 30, 2019. Main Outcomes and Measures: Short- and long-term hypocalcemia and the costs of care were examined using multivariable regression modeling. Results: Among the 126â¯766 patients in the study (81.6% women; mean age, 46.5 years [range, 18-64 years]), postoperative hypocalcemia was present in 19.1% of patients in the initial 30-day postoperative period and in 4.4% of patients at 1 year. Magnesium disorders were present in 2.1% of patients at the time of surgery. Short- and long-term hypocalcemia were significantly more likely in women (short-term: odds ratio [OR], 1.39 [95% CI, 1.29-1.50]; long-term: OR, 1.69 [95% CI, 1.52-1.89]), those younger than 40 years (short-term: OR for ages 40-64 years, 0.83 [95% CI, 0.78-0.87]; long-term: OR for ages 40-64 years, 0.73 [95% CI, 0.67-0.79]), those with a diagnosis of thyroiditis (short-term: OR, 1.48 [95% CI, 1.16-1.89]; long-term: OR, 1.60 [95% CI, 1.13-2.26]) or cancer (short-term: OR, 1.32 [95% CI, 1.05-1.67]; long-term: OR, 1.17 [95% CI, 0.83-1.63]), vitamin D deficiency (short-term: OR, 1.96 [95% CI, 1.74-2.21]; long-term: OR, 3.72 [95% CI, 3.30-4.18]), concurrent lateral neck dissection (short-term: OR, 1.51 [95% CI, 1.37-1.66]; long-term: OR, 1.95 [95% CI, 1.69-2.26]), concurrent central neck dissection (short-term: OR, 1.15 [95% CI, 1.07-1.24]; long-term: OR, 1.25 [95% CI, 1.12-1.40]), intraoperative parathyroid (short-term: OR, 1.58 [95% CI, 1.46-1.71]; and long-term: OR, 2.05 [95% CI, 1.82-2.31]) or recurrent laryngeal nerve injury (short-term: OR, 1.49 [95% CI, 1.27-1.74]; long-term: OR, 2.04 [95% CI, 1.64-2.54]), and magnesium disorders (short-term: OR, 8.40 [95% CI, 7.21-9.79]; long-term: OR, 25.23 [95% CI, 19.80-32.17]). Compared with the initial postoperative period, the odds of hypocalcemia decreased by 90.0% (OR, 0.10 [95% CI, 0.09-0.11]) at 6 months and 93.0% (OR, 0.07 [95% CI, 0.06-0.08]) at 1 year. After controlling for all other variables, magnesium disorders were associated with the highest odds of short- and long-term postoperative hypocalcemia. Hypocalcemia ($3392) and magnesium disorders ($14â¯314) were associated with increased mean incremental 1-year costs of care. Conclusions and Relevance: Hypocalcemia is common after total thyroidectomy but resolves in most patients by 1 year. Magnesium disorders are significantly independently associated with short- and long-term hypocalcemia and are associated with greater costs of care. These data suggest a potentially modifiable target to reduce the incidence and cost of long-term hypocalcemia at patient and systemic levels.
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Custos de Cuidados de Saúde , Hipocalcemia/epidemiologia , Magnésio/sangue , Complicações Pós-Operatórias/epidemiologia , Doenças da Glândula Tireoide/cirurgia , Tireoidectomia/efeitos adversos , Adolescente , Adulto , Estudos Transversais , Feminino , Humanos , Hipocalcemia/economia , Hipocalcemia/terapia , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/economia , Complicações Pós-Operatórias/terapia , Doenças da Glândula Tireoide/patologia , Adulto JovemRESUMO
OBJECTIVE: Valve-sparing root replacement is an attractive alternative to composite mechanical or biologic prostheses for aortic root aneurysms in children. Data on outcomes in pediatric patients are limited. We present our institutional experience with 100 consecutive pediatric valve-sparing aortic root procedures. METHODS: All children who underwent valve-sparing root replacement at our institution from May 1997 to August 2017 were identified, and echocardiographic and clinical data were reviewed. The primary end point was mortality, and secondary end points included complications, further interventions, and subsequent valvular dysfunction. RESULTS: Median age at operation was 13.6 years (interquartile range, 9.42-15.9); 51 patients (51%) had Marfan syndrome, and 39 patients (39%) had Loeys-Dietz syndrome. Mean preoperative maximum sinus diameter was 4.4 ± 0.71 cm (z score 7.3 [5.7-9.3]). Most patients (n = 80, 80%) underwent reimplantation procedures with a Valsalva graft. Four patients (4%) underwent David I reimplantation with a straight-tube graft, 13 patients (13%) underwent a Yacoub remodeling procedure, and 3 patients (3%) underwent a Florida sleeve procedure. Perioperative valve-sparing root replacement mortality was 2% (n = 2). Six patients required late reintervention for development of pseudoaneurysms. Eight patients underwent additional aortic surgery. Average time to reoperation was 7.23 ± 4.56 years. Of the 84 patients undergoing a reimplantation procedure, 5 (5.9%) underwent late valve replacement versus 5 (33.3%) of the 15 patients who received a remodeling procedure (P = .001). CONCLUSIONS: Valve-sparing root replacement is a safe and effective option for children with aortic root aneurysms in children. The reimplantation procedure is preferred. Late aortic insufficiency and pseudoaneurysm formation remain late concerns.
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Valva Aórtica/cirurgia , Implante de Prótese Vascular , Síndrome de Loeys-Dietz/cirurgia , Reimplante , Adolescente , Falso Aneurisma/etiologia , Falso Aneurisma/mortalidade , Falso Aneurisma/cirurgia , Valva Aórtica/diagnóstico por imagem , Valva Aórtica/fisiopatologia , Insuficiência da Valva Aórtica/etiologia , Insuficiência da Valva Aórtica/mortalidade , Insuficiência da Valva Aórtica/cirurgia , Prótese Vascular , Implante de Prótese Vascular/efeitos adversos , Implante de Prótese Vascular/instrumentação , Implante de Prótese Vascular/mortalidade , Criança , Feminino , Humanos , Síndrome de Loeys-Dietz/diagnóstico por imagem , Síndrome de Loeys-Dietz/mortalidade , Síndrome de Loeys-Dietz/fisiopatologia , Masculino , Síndrome de Marfan/complicações , Síndrome de Marfan/mortalidade , Desenho de Prótese , Recuperação de Função Fisiológica , Reoperação , Reimplante/efeitos adversos , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do TratamentoRESUMO
As the incidence of cardiovascular disease continues to climb worldwide, there is a corresponding increase in demand for surgical interventions involving vascular grafts. The current gold standard for vascular grafts is autologous vessels, an option often excluded due to disease circumstances. As a result, many patients must resort to prosthetic options. While widely available, prosthetic grafts have been demonstrated to have inferior patency rates compared with autologous grafts due to inflammation and thrombosis. In an attempt to overcome these limitations, many different materials for constructing vascular grafts, from modified synthetic nondegradable polymers to biodegradable polymers, have been explored, many of which have entered the translational stage of research. This article reviews these materials in the context of large animal models, providing an outlook on the preclinical potential of novel biomaterials as well as the future direction of vascular graft research.