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Transcription factor EB (TFEB)-rearranged renal cell carcinoma (RCC) exhibits diverse gene fusion patterns and heterogeneous clinicopathologic features. Rare TFEB-amplified RCCs have been described recently and are associated with a more aggressive clinical course. Herein, we report a case of an 86-year-old man with a solid 9.2-cm kidney tumor that showed a diffuse high-grade sarcomatoid morphology. The tumor demonstrated a novel BYSL::TFEB fusion containing exons 1-2 of the BYSL gene fused to exons 3-10 of TFEB via next-generation sequencing by using NextSeq sequencer. Fluorescence in situ hybridization (FISH) studies displayed concurrent high-copy number TFEB amplification in two distinct patterns, a balanced increase of 5' and 3' copies, and solely increased 5' copies, and mouse double minute 2 (MDM2) gene amplification by using TFEB (6p21.1) dual-color break-apart probe and MDM2 FISH probe. Notably, the tumor showed a distinctive immunoprofile with overexpressions of TFEB, epithelial membrane antigen, Cathepsin K, and PDL-1 (SP263). FISH test for transcription factor binding to IGHM enhancer 3 (TFE3) was negative for rearrangement and corresponding immunonegativity of TFE3. These findings not only expand the repertoire of known TFEB fusion partners implicated in tumorigenesis, but also may provide novel information for target therapy.
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Carcinoma de Células Renais , Neoplasias Renais , Sarcoma , Neoplasias de Tecidos Moles , Humanos , Animais , Camundongos , Hibridização in Situ Fluorescente , Neoplasias Renais/patologia , Carcinoma de Células Renais/patologia , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/genética , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos/metabolismo , Éxons , Sarcoma/genética , Neoplasias de Tecidos Moles/genética , Biomarcadores Tumorais/genética , Translocação Genética , Moléculas de Adesão Celular/genéticaRESUMO
Photolysis of 1-(2-adamantylidene)-1a,9b-dihydro-1H-cyclopropa[l]phenanthrene in benzene (or benzene-d6) at ambient temperature produces adamantylidenecarbene. The carbene undergoes dimerization to a cumulene and may also be trapped in a stereospecific fashion by cis- and trans-4-methyl-2-pentene. No products attributable to 4-homoadamantyne, resulting from ring expansion of the carbene, could be detected. Coupled cluster/density functional theory calculations place the singlet carbene â¼49 kcal/mol below the triplet and show that the former must overcome a barrier of â¼13.5 kcal/mol to rearrange into 4-homoadamantyne.
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BACKGROUND: Processed lipoaspirate grafting describes several techniques theorized to leverage the inflammatory and regenerative capacities of mechanically processed adipocytes to rejuvenate and correct skin pathology. Although lipoaspirate grafting is typically leveraged to fill visible defects such as depressed scars and dermal lines, additional fat processing allows grafts to stimulate mechanisms of wound healing, including the promotion of fibroblast activation, neovascularization, and neocollagenesis. OBJECTIVES: This study intends to assess the efficacy and tolerability of processed lipoaspirate grafting monotherapy to improve the clinical appearance of atrophic acne scars. METHODS: Patients underwent a single autologous processed lipoaspirate grafting procedure at the site of atrophic acne scars. Objective and subjective scar analysis was performed at 3 and 6 months posttreatment. Scars were assessed with standard photography, topographic analysis, and noninvasive skin measurements. In addition, microbiopsies were obtained before and after treatment to assess histological or genetic changes. Clinical improvement was assessed with patient and clinician Global Aesthetic Improvement Scales (GAIS) and blinded photographic evaluation. RESULTS: Ten patients between ages 18 and 60 completed the study. Clinical evaluation demonstrated that fat grafting improved the appearance of atrophic acne scars. Clinician GAIS and patient GAIS scores showed clinical improvement at both 3- and 6-month follow-up compared with baseline (P < .05). Blinded clinician GAIS scores also showed statistically significant improvement when clinicians compared clinical photographs taken at 6-month follow-up to baseline (P < .0001). The attenuation coefficient increased at 6-month follow-up, suggesting collagen remodeling and reorganization over the study period. Patients experienced anticipated posttreatment symptoms including transient erythema and edema; however, no unexpected adverse events were reported. CONCLUSIONS: Micronized lipoaspirate injection is a viable and effective option to improve the appearance of facial acne scarring. Favorable improvements in atrophic acne scarring were captured by objective analysis of skin ultrastructure as well as improvement in subjective assessments of scarring.
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Acne Vulgar , Cicatriz , Humanos , Cicatriz/etiologia , Cicatriz/cirurgia , Cicatriz/tratamento farmacológico , Projetos Piloto , Acne Vulgar/complicações , Pele/patologia , Atrofia/patologia , Resultado do TratamentoRESUMO
BACKGROUND: Intense pulsed light (IPL) is a noninvasive therapeutic option to treat benign pigmented lesions by targeting melanin. OBJECTIVE: The purpose of this study was to assess IPL as a treatment for benign pigmented dorsal hand lesions. MATERIALS AND METHODS: A total of fifteen subjects, 40 to 73 years old, received 3 monthly IPL treatments over the dorsal hands. Subjects followed up 1 and 3 months after treatment. At every visit, photographs were taken using the VISIA Complexion Analysis System (Canfield Scientific, Fairfield, NJ) and analyzed using the RBX Brown Spots Analysis algorithm. The Clinician Global Aesthetic Improvement Scale and Subject Global Aesthetic Improvement Scale were completed at both follow-up visits. RESULTS: A total of fifteen subjects completed all six visits. The number of brown spots decreased 9.26% ( p = .0004) and 7.52% ( p = .0132) at each follow-up visit. The mean brown intensity decreased 6.15% ( p = .0183) and 7.67% ( p = .0178), whereas the mean contrast intensity decreased 8.88% ( p < .0001) and 6.60% ( p = .0007) 1 and 3 months after treatment, respectively. The mean Clinician Global Aesthetic Improvement Scale was 2.03 and 2.23, whereas the mean Subject Global Aesthetic Improvement Scale 1 and 3 months after treatment was 1.6 and 1.8, respectively. CONCLUSION: Objective analysis, along with clinician and subject assessments, showed an improvement in the appearance of benign pigmented lesions in the treated area after 3 IPL treatments.
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Terapia de Luz Pulsada Intensa , Adulto , Idoso , Mãos , Humanos , Pessoa de Meia-Idade , Fototerapia , Resultado do TratamentoRESUMO
BACKGROUND: A microneedling pen has been cleared by the US FDA and is indicated for improving the appearance of facial acne scars in adults. OBJECTIVES: The aim of this study was to assess the effectiveness of this microneedling pen for treating wrinkles. This paper focuses on the results on the neck, an area of recent importance with video meetings placing physical stress on the neck area, leading to wrinkles. METHODS: Healthy adult men and women were enrolled (Nâ =â 35). Subjects received 4 monthly microneedling procedures at depths of up to 2.5 mm. Wrinkle assessments were performed by 2 trained blinded raters by comparing images of each subject at baseline and at 90 days postprocedure. The 2 raters were unblinded for the Clinician's Global Aesthetic Improvement Scale assessment. Subjects completed the Subject's Global Aesthetic Improvement Scale and a questionnaire regarding satisfaction with the treated areas of the face and neck at 30 and 90 days posttreatment. RESULTS: The study was completed by 32 subjects. Wrinkle assessments demonstrated significant improvement in the neck areas (Pâ <â 0.001). Both Global Aesthetic Improvement Scales showed significant improvements at 90 days posttreatment (Pâ <â 0.001). Most subjects reported some level of improvement in their appearance at 30 days (73.3%) and 90 days (68.8%) posttreatment. The satisfaction questionnaire showed high levels of improvement in wrinkles (93.8%), satisfaction with the results (87.5%), and would recommend microneedling to friends and family members (80.6%). CONCLUSIONS: Microneedling is a viable, minimally invasive option for treating wrin kles of the neck.
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Acne Vulgar , Envelhecimento da Pele , Adulto , Cicatriz/terapia , Feminino , Humanos , Masculino , Pescoço , Resultado do TratamentoRESUMO
The advancement of laser technology has seen its use gain popularity across a wide range of specialties to treat diseases, as well as address aesthetic concerns. In order to protect both the patient and the healthcare personnel providing treatment, instruction and knowledge of laser safety remain of utmost importance. In this paper, we discuss the classification of laser systems, review ocular injuries that may be caused by inappropriate laser exposure, and provide background on laser protective eyewear. In addition, we highlight the current recommendations for proper eyewear during laser use outlined in the American National Standards Institute standard Z136.3, Safe Use of Lasers in Health Care. Finally, although it is common in some healthcare facilities to place gauze under external eye shields or use gauze alone over eyes during laser procedures, this practice poses an extreme risk to both patients and healthcare personnel. Therefore, we discuss why the use of gauze under eyewear for any laser procedures is not recommended, and instead, offer suggestions to consider when acquiring safe and comfortable patient eyewear.
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Traumatismos Oculares , Dispositivos de Proteção dos Olhos , Olho , Traumatismos Oculares/etiologia , Traumatismos Oculares/prevenção & controle , Humanos , LasersRESUMO
The increasing prevalence of laser use, particularly in plastic surgery, demands education of both practitioners and trainees to ensure efficacy and patient safety. The purpose of this continuing medical education module is to provide the learner with a detailed outline for laser training education for plastic surgery trainees. In this overview, a discussion of the characteristics of light, an introduction to fundamental laser principles, a comparison of lasers and pulsed light systems, and examples of several therapeutic applications for light-based devices in the clinical setting will be presented. Additionally, the 5 parameters necessary for operation of light-based devices, as well as the importance of laser safety education, will be reviewed. We hope this continuing medical education will provide both practicing plastic surgeons and trainees with the proper education on the lasers and pulsed light devices they will use in their clinical practices.
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Internato e Residência , Cirurgia Plástica , Educação Médica Continuada , Educação de Pós-Graduação em Medicina , Humanos , Lasers , Cirurgia Plástica/educaçãoRESUMO
Recent advancements in laser technology have led to its expanded utilization in smaller clinical settings and medical spas, particularly for facial rejuvenation and the treatment of other aesthetic concerns. Despite the increasing popularity of this technology, discussion of laser safety programs has remained limited, mostly to operating rooms at larger clinical institutions. Although smaller facilities do not operate at the same capacity as a large hospital or medical center, the requirements for utilizing a laser are no less stringent. Employers must comply with local and federal regulations, the Occupational Safety and Health Administration (OSHA) General Duty Clause, American National Standards Institute (ANSI) standards, and professional recommended practices applicable to their business. Although the laser safety officer (LSO) is often a full-time position within larger facilities, smaller clinical settings and medical spas may be limited in staff number. It is important, therefore, that clinical practices establish laser policies and procedures with consideration of their individual needs and capabilities. In this paper, we will define a laser safety program, highlight basic requirements needed to establish this program, and outline the specific responsibilities of the LSO. To ensure that safe laser practices are being conducted at the healthcare facility, it is imperative that small business owners are aware of these regulations and standards in place for the operation of laser systems.
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Instalações de Saúde , Lasers , HumanosRESUMO
The COVID-19 pandemic has necessitated a reorganization of healthcare delivery, shedding light on the many unrealized advantages telehealth has to offer. In addition to facilitating social distancing, minimizing the risk of pathogen exposure, and preserving healthcare resources, there are many benefits of utilizing this platform that can extend beyond the current pandemic, which will change the way healthcare is delivered for generations to come. With the rapid expansion of telehealth, we present data from our high-volume academic institution's telehealth efforts, with a more focused analysis of plastic surgery. Although state legislation regarding telehealth varies greatly, we discuss challenges such as legal issues, logistical constraints, privacy concerns, and billing. We also discuss various advantages and the future direction of telehealth not only for plastic surgery but also its general utilization for the future of medicine in the United States.
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COVID-19 , Telemedicina , Atenção à Saúde , Humanos , Pandemias/prevenção & controle , SARS-CoV-2 , Estados Unidos/epidemiologiaRESUMO
BACKGROUND: It is dangerous, although not uncommon, in some clinical settings for laser operators to place gauze underneath external patient protective eyewear when performing laser procedures. OBJECTIVES: The purpose of this study was to evaluate 4 lasers, commonly used for aesthetic facial procedures, on 3 materials commonly found in the clinical setting. METHODS: We performed tests with 4 lasers: the 2940-nm erbium-doped yttrium aluminum garnet (Er:YAG) laser, the 532-nm potassium titanyl phosphate (KTP) laser, the 1064-nm neodymium-doped yttrium aluminum garnet (Nd:YAG) laser, and a Lumenis UltraPulse 10,600-nm carbon dioxide (CO2) laser. Their effects were evaluated on dry gauze pads, wet gauze pads, and adhesive external eye shields. RESULTS: When exposed to the 2940-nm Er:YAG and 10,600-nm CO2 lasers, dry gauze smoked on the first pulse and ignited on the second pulse, whereas no damage occurred to the wet gauze or adhesive eye shields after 8 and 4 pulses, respectively. No damage to any material or the underlying surface was seen after 30 pulses of the 532-nm KTP laser. After 2 pulses of the 1064-nm Nd:YAG laser, the adhesive eye shields sparked; dry gauze smoked after 1 pulse, but no damage to the underlying surface occurred after 30 pulses. CONCLUSIONS: The results of our study highlight the inherent flammability of gauze when exposed to lasers commonly used to address aesthetic facial concerns. Although moistened gauze conveyed more protection than dry gauze, these results do not guarantee patient ocular safety. Therefore, we do not recommend the use of any gauze under protective eyewear.
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Lasers de Gás , Lasers de Estado Sólido , Estética , Olho , Humanos , Lasers de Estado Sólido/efeitos adversosRESUMO
BACKGROUND: Noninvasive treatments for skin tightening are gaining popularity. However, no studies have assessed bipolar fractional radiofrequency treatment on suprapatellar skin. OBJECTIVES: The purpose of this study was to evaluate the efficacy of bipolar fractional radiofrequency treatment on suprapatellar skin. METHODS: Twenty patients received 1 bilateral suprapatellar bipolar fractional radiofrequency treatment. They returned 7 days, 3 weeks, 3 months, and 6 months posttreatment. Noninvasive measurements were obtained at each visit, including high-resolution ultrasonography, optical coherence tomography, transepidermal water loss and skin elasticity. Microbiopsies were collected in the treatment area for histologic and gene expression analyses. Three clinicians completed photographic evaluations comparing texture and laxity at baseline vs 6 months posttreatment. RESULTS: Fifteen subjects completed all 6 visits. Both transepidermal water loss and dermal-epidermal junction roughness were increased at 3 weeks and 3 months posttreatment. Both attenuation coefficient and stiffness were increased significantly at 3 and 6 months posttreatment. Blood flow 0.5 mm below the surface and expression of epidermal hyaluronic acid and inflammatory genes IL-1b and IL-6 were significantly higher at 7 days posttreatment compared with pretreatment and 3 months posttreatment. There were no statistically significant changes in collagen- or elastin-related genes and proteins at 7 days or 3 months posttreatment. An improvement in texture and laxity was observed at 6 months posttreatment in 17.7% and 24.4% of photographs, respectively. CONCLUSIONS: Radiofrequency treatment by microneedling of suprapatellar skin shows limited effects in decreasing skin laxity and improving skin appearance. At a molecular level, the treatment resulted in lower elastin and hyaluronic acid levels and increased dermal-epidermal junction roughness based on histology and optical coherence tomography imaging.
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Técnicas Cosméticas , Terapia por Radiofrequência , Envelhecimento da Pele , Humanos , Rejuvenescimento , PeleRESUMO
BACKGROUND: Although ablative techniques are the standard of care for the treatment of fine lines and wrinkles, microneedling offers a minimally invasive alternative. OBJECTIVES: The purpose of this study was to assess the efficacy of microneedling on facial and neck fine lines and wrinkles. METHODS: Thirty-five subjects between 44 and 65 years old with Fitzpatrick skin types I to IV received 4 monthly microneedling treatments over the face and neck. Subjects returned 1 and 3 months posttreatment. At every visit, high-resolution ultrasonography and optical coherence tomography were performed, and transepidermal water loss and skin elasticity were measured. Microbiopsies (0.33 mm) were collected pretreatment, before the fourth treatment and 3 months posttreatment. RESULTS: Thirty-two subjects (30 females, 2 males) completed all 7 visits. Facial dermal and epidermal density increased 101.86% and 19.28%, respectively, from baseline at 3 months posttreatment. Facial elasticity increased 28.2% from baseline at 3 months posttreatment. Facial attenuation coefficient increased 15.65% and 17.33% at 1 and 3 months posttreatment, respectively. At study completion, blood flow at a depth of 300 µm decreased 25.8% in the face and 42.3% in the neck. Relative collagen type III and elastin gene expression was statistically higher 3 months posttreatment. However, total elastin protein levels were unchanged from baseline values. Dermal muscle formation was observed in 58% of biopsies extracted 3 months posttreatment compared with 15.3% at baseline. CONCLUSIONS: The results illustrate the effects of microneedling treatments. Noninvasive measurements and biopsy data showed changes in skin architecture and collagen/elastin gene expression, suggesting skin rejuvenation, with new extracellular matrix production and muscle formation.
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Técnicas Cosméticas , Envelhecimento da Pele , Adulto , Idoso , Técnicas Cosméticas/efeitos adversos , Face/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Rejuvenescimento , PeleRESUMO
OBJECTIVES: A microneedling pen has been cleared by the US Food and Drug Administration, indicated for improving the appearance of adult facial acne scars. The objective of this study was to assess the device's effectiveness for treating wrinkles of the face area. MATERIALS AND METHODS: Healthy adults seeking to improve the appearance of face wrinkles were enrolled (N = 35), receiving four monthly microneedling procedures by a trained aesthetician who treated the face skin per manufacturer instructions. Wrinkle assessments were performed by two trained blinded raters by comparing baseline images of each subject with images obtained at 90 days post-procedure. Subsequently, the two raters were unblinded for the Clinician's Global Aesthetic Improvement Scale (CGAIS) assessment. Subjects completed the Subject's Global Aesthetic Improvement Scale (SGAIS) and a Satisfaction Questionnaire at 30 and 90 days post-treatment. RESULTS: The study was completed by 32 subjects with a mean (SD) age of 56.3 (5.0) years. Wrinkle assessments demonstrated significant improvement in the face areas (p < 0.001). The SGAIS scores showed significant improvements after 30 and 90 days post-treatment (for each, p < 0.001). The CGAIS scores also showed significant improvements at 90 days post-treatment (p < 0.001). Most subjects reported some level of improvement in their appearance at 30 days (73.3%) and 90 days (68.8%) post-treatment. The satisfaction questionnaire showed high levels of improvement in wrinkles (93.8%), satisfaction with the treatment procedure (87.5%) and would recommend microneedling to friends and family members (80.6%) on the face and neck. CONCLUSION: Microneedling is a viable, minimally invasive option for treating wrinkles of the face. CLINICALTRIALS: gov Identifier: NCT03803059.
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Técnicas Cosméticas , Envelhecimento da Pele , Adulto , Humanos , Pessoa de Meia-Idade , Técnicas Cosméticas/efeitos adversos , Cicatriz/terapia , Pele/patologia , Resultado do TratamentoRESUMO
Emphysematous pyelonephritis (EPN) is a severe, acute necrotizing infection of the kidney with gas accumulation in the renal parenchyma, collecting ducts, and/or perirenal tissue. We report a case of EPN in a 66 year-old male with uncontrolled diabetes mellitus (DM), urinary tract infection and septic shock necessitating emergent bilateral radical nephrectomy. Morphologically, the kidney parenchyma revealed severe acute bacterial pyelonephritis with extensive abscesses, gas cysts, necrosis and foci of infarctions. The uninvolved background cortex parenchyma exhibited diabetic nephropathy (DN), Class IIB. Post-operatively, the patient remained dialysis-dependent with multiple re-admissions for recurrent multi-drug resistant E. coli pyocystitis, anemia and urinary retention.
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BACKGROUND: While validated scales must be created in order to systemically evaluate patients and quantify outcomes of aesthetic hand treatments, scales currently available are limited to the analysis of volume loss alone. OBJECTIVES: The purpose of this study was to develop 3 validated scales for the assessment of dorsal hand aging that also take into consideration wrinkling and pigmentation. METHODS: Fifty (50) healthy volunteers (40 females and 10 males) with Fitzpatrick skin types I-IV were recruited, and standard photographs of their left and right dorsal hands were taken with a Nikon D7100 (Nikon; Minato, Tokyo, Japan) camera. Using 25 randomized photographs, 11 plastic surgery physicians (3 chief residents, 6 senior residents, and 2 aesthetic surgery fellows) were trained on the 3 scales under investigation as well as the already-validated Merz Hand Grading Scale (MHGS). The evaluators then viewed the remaining 75 photographs independently and assigned a grade for each of the 4 scales to each photograph. Inter-rater variability was calculated for each scale. RESULTS: The Kappa score for the MHGS was 0.25, indicating fair agreement; 0.40 for wrinkle scale, indicating fair agreement; and 0.48 and 0.46 for the pigmentation density and intensity scales, respectively, indicating moderate agreement (Pâ <â 0.001). CONCLUSIONS: The results show that after receiving training, the inter-rater agreement for the 3 scales under investigation was similar or slightly higher than that for the MHGS. These 3 photographic classification systems can be used consistently and reliably to characterize multiple signs of dorsal hand aging.
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BACKGROUND: Occipital neuralgia (ON) is a primary headache disorder characterized by sharp, shooting, or electric shock-like pain in the distribution of the greater, lesser, or third occipital nerves. AIM: To review the existing literature on the management of ON and to describe our technique of an endoscopic-assisted approach to decompress the GON proximally in areas of fibrous and muscular compression, as well as distally by thorough decompression of the occipital artery from the nerve. METHODS: Relevant literature on the medical and surgical management of ON was reviewed. Literature on the anatomical relationships of occipital nerves and their clinical relevance were also reviewed. RESULTS: While initial treatment of ON is conservative, peripheral nerve blocks and many surgical management approaches are available for patients with pain refractory to the medical treatment. These include greater occipital nerve blocks, occipital nerve stimulation, Botulinum toxin injections locally, pulsed radiofrequency ablation, cryoneuroablation, C-2 ganglionectomy, and endoscopic-assisted ON decompression. CONCLUSION: Patients of ON refractory to medical management can be benefitted by surgical approaches and occipital nerve blocks. Endoscopic-assisted ON decompression provides one such approach for the patients with vascular, fibrous or muscular compressions of occipital nerves resulting in intractable ON.