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1.
Surgery ; 2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38609784

RESUMO

BACKGROUND: There are an increasing number of global surgery activities worldwide. With such tremendous growth, there is a potential risk for untoward interactions between high-income country members and low-middle income country members, leading to programmatic failure, poor results, and/or low impact. METHODS: Key concepts for cultural competency and ethical behavior were generated by the Academic Global Surgery Committee of the Society for University Surgeons in collaboration with the Association for Academic Global Surgery. Both societies ensured active participation from high-income countries and low-middle income countries. RESULTS: The guidelines provide a framework for cultural competency and ethical behavior for high-income country members when collaborating with low-middle income country partners by offering recommendations for: (1) preparation for work with low-middle income countries; (2) process standardization; (3) working with the local community; (4) limits of practice; (5) patient autonomy and consent; (6) trainees; (7) potential pitfalls; and (8) gray areas. CONCLUSION: The article provides an actionable framework to address potential cultural competency and ethical behavior issues in high-income country - low-middle income country global surgery collaborations.

3.
J Surg Res ; 291: 51-57, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37348436

RESUMO

INTRODUCTION: Alarming rates of burnout in surgical training pose a concern due to its deleterious effects on both patients and providers. Datum remains lacking on rates of burnout in surgical residents based on race and ethnicity. This study aims to document the frequency of burnout in surgical residents of racially underrepresented backgrounds and elucidate contributing factors. METHODS: A 35-question anonymized survey was distributed to general surgery residents from 23 programs between August 2018 and May 2019. This survey was designed from the validated Maslach Burnout Inventory, and included additional questions assessing participant demographics, educational, and social backgrounds. Responses were analyzed utilizing chi-square tests and Wilcoxon rank sum tests. There was also a free response portion of the survey which was evaluated using thematic analysis. RESULTS: We received 243 responses from 23 general surgery programs yielding a 9% (23/246) program response rate and 26% (243/935) response rate by surgical residents. One hundred and eighty-five participants (76%) identified as nonunderrepresented in medicine and 58 (24%) of participants identified as underrepresented in medicine. Fifty-three percent were male and 47% female. Overall, sixty-six percent of all surgical residents (n = 161) endorsed burnout with racially underrepresented residents reporting higher rates of burnout at 76% compared to 63% in their nonunderrepresented counterparts (P = 0.07). CONCLUSIONS: Although the generalizability of these results is limited, higher rates of reported burnout in racially underrepresented trainees noted in our study illuminates the need for continual dialogue on potential influencing factors and mitigation strategies.


Assuntos
Esgotamento Profissional , Internato e Residência , Humanos , Masculino , Feminino , Esgotamento Profissional/epidemiologia , Esgotamento Profissional/etiologia , Inquéritos e Questionários , Escolaridade
4.
Ann Surg ; 276(3): e141-e176, 2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-35848728

RESUMO

OBJECTIVE: To develop evidence-based recommendations for safe, effective, and appropriate treatment of secondary (SHPT) and tertiary (THPT) renal hyperparathyroidism. BACKGROUND: Hyperparathyroidism is common among patients with chronic kidney disease, end-stage kidney disease, and kidney transplant. The surgical management of SHPT and THPT is nuanced and requires a multidisciplinary approach. There are currently no clinical practice guidelines that address the surgical treatment of SHPT and THPT. METHODS: Medical literature was reviewed from January 1, 1985 to present January 1, 2021 by a panel of 10 experts in SHPT and THPT. Recommendations using the best available evidence was constructed. The American College of Physicians grading system was used to determine levels of evidence. Recommendations were discussed to consensus. The American Association of Endocrine Surgeons membership reviewed and commented on preliminary drafts of the content. RESULTS: These clinical guidelines present the epidemiology and pathophysiology of SHPT and THPT and provide recommendations for work-up and management of SHPT and THPT for all involved clinicians. It outlines the preoperative, intraoperative, and postoperative management of SHPT and THPT, as well as related definitions, operative techniques, morbidity, and outcomes. Specific topics include Pathogenesis and Epidemiology, Initial Evaluation, Imaging, Preoperative and Perioperative Care, Surgical Planning and Parathyroidectomy, Adjuncts and Approaches, Outcomes, and Reoperation. CONCLUSIONS: Evidence-based guidelines were created to assist clinicians in the optimal management of secondary and tertiary renal hyperparathyroidism.


Assuntos
Hiperparatireoidismo Secundário , Falência Renal Crônica , Cirurgiões , Humanos , Hiperparatireoidismo Secundário/etiologia , Hiperparatireoidismo Secundário/cirurgia , Rim , Falência Renal Crônica/complicações , Falência Renal Crônica/cirurgia , Paratireoidectomia/métodos , Estados Unidos/epidemiologia
6.
Int J Mol Sci ; 24(1)2022 Dec 29.
Artigo em Inglês | MEDLINE | ID: mdl-36614027

RESUMO

The human adrenal cortex is composed of distinct zones that are the main source of steroid hormone production. The mechanism of adrenocortical cell differentiation into several functionally organized populations with distinctive identities remains poorly understood. Human adrenal disease has been difficult to study, in part due to the absence of cultured cell lines that faithfully represent adrenal cell precursors in the early stages of transformation. Here, Human Adrenocortical Adenoma (HAA1) cell line derived from a patient's macronodular adrenocortical hyperplasia and was treated with histone deacetylase inhibitors (HDACis) and gene expression was examined. We describe a patient-derived HAA1 cell line derived from the zona reticularis, the innermost zone of the adrenal cortex. The HAA1 cell line is unique in its ability to exit a latent state and respond with steroidogenic gene expression upon treatment with histone deacetylase inhibitors. The gene expression pattern of differentiated HAA1 cells partially recreates the roster of genes in the adrenal layer that they have been derived from. Gene ontology analysis of whole genome RNA-seq corroborated increased expression of steroidogenic genes upon HDAC inhibition. Surprisingly, HDACi treatment induced broad activation of the Tumor Necrosis Factor (TNF) alpha pathway. This novel cell line we developed will hopefully be instrumental in understanding the molecular and biochemical mechanisms controlling adrenocortical differentiation and steroidogenesis.


Assuntos
Córtex Suprarrenal , Adenoma Adrenocortical , Humanos , Zona Reticular/metabolismo , Adenoma Adrenocortical/genética , Adenoma Adrenocortical/metabolismo , Inibidores de Histona Desacetilases/farmacologia , Inibidores de Histona Desacetilases/metabolismo , Corticosteroides/metabolismo , Linhagem Celular
7.
J Surg Res ; 267: 732-744, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34905823

RESUMO

INTRODUCTION: We aimed to search the literature for global surgical curricula, assess if published resources align with existing competency frameworks in global health and surgical education, and determine if there is consensus around a fundamental set of competencies for the developing field of academic global surgery. METHODS: We reviewed SciVerse SCOPUS, PubMed, African Medicus Index, African Journals Online (AJOL), SciELO, Latin American and Caribbean Health Sciences Literature (LILACS) and Bioline for manuscripts on global surgery curricula and evaluated the results using existing competency frameworks in global health and surgical education from Consortium of the Universities for Global Health (CUGH) and Accreditation Council for Graduate Medical Education (ACGME) professional competencies. RESULTS: Our search generated 250 publications, of which 18 were eligible: (1) a total of 10 reported existing competency-based curricula that were concurrent with international experiences, (2) two reported existing pre-departure competency-based curricula, (3) six proposed theoretical competency-based curricula for future global surgery education. All, but one, were based in high-income countries (HICs) and focused on the needs of HIC trainees. None met all 17 competencies, none cited the CUGH competency on "Health Equity and Social Justice" and only one mentioned "Social and Environmental Determinants of Health." Only 22% (n = 4) were available as open-access. CONCLUSION: Currently, there is no universally accepted set of competencies on the fundamentals of academic global surgery. Existing literature are predominantly by and for HIC institutions and trainees. Current frameworks are inadequate for this emerging academic field. The field needs competencies with explicit input from LMIC experts to ensure creation of educational resources that are accessible and relevant to trainees from around the world.


Assuntos
Currículo , Educação de Pós-Graduação em Medicina , Acreditação , Competência Clínica , Saúde Global
8.
BMC Public Health ; 21(1): 958, 2021 05 20.
Artigo em Inglês | MEDLINE | ID: mdl-34016065

RESUMO

BACKGROUND: In the last decade surgical care has been propelled into the public health domain with the establishment of a World Health Organisation (WHO) designated programme and key publications. The passing of the historic World Health Assembly Resolution (WHA) acknowledged surgical care as a vital component towards achieving Universal Health Coverage (UHC). We conducted the first worldwide survey to explore the perception of surgical care as a public health issue. METHOD: The anonymous, cross sectional survey targeted worldwide participants across a range of professional backgrounds, including non-medical using virtual snowball sampling method (in English) using Google Forms (Google Inc., Mountain View, CA, USA) from 20th February 2019 to 25th June 2019. The survey questions were designed to gauge awareness on Sustainable Development Goals (SDGs), UHC, WHO programmes and key publications on surgical care as well as perception of surgical care as a priority topic in public health. RESULTS: The survey was completed by 1954 respondents from 118 countries. Respondents were least aware of surgical care as a teaching topic in public health courses (27%; n = 526) and as a WHO programme (20%; n = 384). 82% of respondents were aware of UHC (n = 1599) and of this 72% (n = 1152) agreed that surgical care fits within UHC. While 77% (n = 1495) of respondents were aware of SDGs, only 19% (n = 370) agreed that surgery was a priority to meet SDGs. 48% (n = 941) rated surgical care as a cost-effective component of Primary Health Care. 88% (n = 1712) respondents had not read the WHA Resolution on 'Strengthening emergency and essential surgical care and anaesthesia as a component of UHC'. CONCLUSION: There is still a widespread gap in awareness on the importance of surgical care as a public health issue amongst our respondents. Surgical care was not seen as a priority to reach the SDGs, less visible as a WHO programme and not perceived as an important topic for public health courses.


Assuntos
Saúde Pública , Cobertura Universal do Seguro de Saúde , Estudos Transversais , Saúde Global , Humanos , Percepção
12.
Eur J Trauma Emerg Surg ; 47(5): 1591-1598, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32157342

RESUMO

OBJECTIVES: The mortality rate from road traffic accidents (RTAs) in Nigeria is almost double that of the USA. In Nigeria, the first emergency medical services (EMS) system was established in March 2001, The Lagos State Ambulance Service (LASAMBUS). The objectives of this study are to (1) determine the burden of RTAs in Lagos, (2) assess RTA call outcomes, and (3) analyze LASAMBUS's response time and causes for delay. METHODOLOGY: We reviewed completed LASAMBUS intervention forms spanning December 2017 to May 2018. We categorized the call outcomes into five groups: I. Addressed Crash, II. No Crash (False Call), III. Crash Already Addressed, IV. Did Not Respond, and V. Other. We further explored associations between the (1) causes for delay and outcomes and (2) response times and the outcomes. RESULTS: Overall, we analyzed 1352 intervention forms. We found that LASAMBUS did not address 53% of the RTA calls that they received. Of this, Outcome II. No Crash (False Call) accounted for 26% and Outcome III. Crash Already Addressed accounted for 22%. Self-reported causes for delay were recorded in 180 forms, representing 13.7% of the RTA burden. Traffic congestion accounted for 60% of this distribution. CONCLUSION: LASAMBUS response rates are significantly lower than response rates in high-income countries such as the USA and lead to increased RTA mortality rates. Eliminating causes for delay will improve both LASAMBUS effectiveness and RTA victims' health outcomes. Changing the public perception of LASAMBUS and standardizing LASAMBUS' contact information will aid this as well.


Assuntos
Ambulâncias , Serviços Médicos de Emergência , Acidentes de Trânsito , Humanos , Nigéria
13.
Proc Natl Acad Sci U S A ; 117(31): 18401-18411, 2020 08 04.
Artigo em Inglês | MEDLINE | ID: mdl-32690709

RESUMO

Disparities in cancer patient responses have prompted widespread searches to identify differences in sensitive vs. nonsensitive populations and form the basis of personalized medicine. This customized approach is dependent upon the development of pathway-specific therapeutics in conjunction with biomarkers that predict patient responses. Here, we show that Cdk5 drives growth in subgroups of patients with multiple types of neuroendocrine neoplasms. Phosphoproteomics and high throughput screening identified phosphorylation sites downstream of Cdk5. These phosphorylation events serve as biomarkers and effectively pinpoint Cdk5-driven tumors. Toward achieving targeted therapy, we demonstrate that mouse models of neuroendocrine cancer are responsive to selective Cdk5 inhibitors and biomimetic nanoparticles are effective vehicles for enhanced tumor targeting and reduction of drug toxicity. Finally, we show that biomarkers of Cdk5-dependent tumors effectively predict response to anti-Cdk5 therapy in patient-derived xenografts. Thus, a phosphoprotein-based diagnostic assay combined with Cdk5-targeted therapy is a rational treatment approach for neuroendocrine malignancies.


Assuntos
Neoplasias/tratamento farmacológico , Neoplasias/metabolismo , Tumores Neuroectodérmicos/tratamento farmacológico , Fosfoproteínas/metabolismo , Inibidores de Proteínas Quinases/administração & dosagem , Animais , Biomarcadores/análise , Biomarcadores/metabolismo , Quinase 5 Dependente de Ciclina/antagonistas & inibidores , Quinase 5 Dependente de Ciclina/genética , Quinase 5 Dependente de Ciclina/metabolismo , Xenoenxertos , Humanos , Camundongos , Neoplasias/genética , Tumores Neuroectodérmicos/genética , Tumores Neuroectodérmicos/metabolismo , Fosfoproteínas/análise , Fosfoproteínas/genética , Fosforilação
14.
Ann Surg ; 272(1): 24-29, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32209893

RESUMO

OBJECTIVE: To determine the representation of Black/AA women surgeons in academic medicine among U.S. medical school faculty and to assess the number of NIH grants awarded to Black/AA women surgeon-scientists over the past 2 decades. SUMMARY OF BACKGROUND DATA: Despite increasing ethnic/racial and sex diversity in U.S. medical schools and residencies, Black/AA women have historically been underrepresented in academic surgery. METHODS: A retrospective review of the Association of American Medical Colleges 2017 Faculty Roster was performed and the number of grants awarded to surgeons from the NIH (1998-2017) was obtained. Data from the Association of American Medical Colleges included the total number of medical school surgery faculty, academic rank, tenure status, and department Chair roles. Descriptive statistics were performed. RESULTS: Of the 15,671 U.S. medical school surgical faculty, 123 (0.79%) were Black/AA women surgeons with only 11 (0.54%) being tenured faculty. When stratified by academic rank, 15 (12%) Black/AA women surgeons were instructors, 73 (59%) were assistant professors, 19 (15%) were associate professors, and 10 (8%) were full professors of surgery. Of the 372 U.S. department Chairs of surgery, none were Black/AA women. Of the 9139 NIH grants awarded to academic surgeons from 1998 and 2017, 31 (0.34%) grants were awarded to fewer than 12 Black/AA women surgeons. CONCLUSION: A significant disparity in the number of Black/AA women in academic surgery exists with few attaining promotion to the rank of professor with tenure and none ascending to the role of department Chair of surgery. Identifying and removing structural barriers to promotion, NIH grant funding, and academic advancement of Black/AA women as leaders and surgeon-scientists is needed.


Assuntos
Negro ou Afro-Americano , Docentes de Medicina/provisão & distribuição , Médicas/provisão & distribuição , Apoio à Pesquisa como Assunto , Cirurgiões/provisão & distribuição , Adulto , Feminino , Humanos , Estudos Retrospectivos , Faculdades de Medicina , Estados Unidos
15.
World J Surg ; 43(3): 812-817, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30483883

RESUMO

BACKGROUND: Time to hormonal control after definitive management of hyperthyroidism is unknown but may influence patient and physician decision making when choosing between treatment options. The hypothesis is that the euthyroid state is achieved faster after thyroidectomy than RAI ablation. METHODS: A retrospective review of all patients undergoing definitive therapy for hyperthyroidism was performed. Outcomes after thyroidectomy were compared to RAI. RESULTS: Over 3 years, 217 patients underwent definitive therapy for hyperthyroidism at a county hospital: 121 patients received RAI, and 96 patients underwent thyroidectomy. Age was equivalent (p = 0.72). More males underwent RAI (25% vs 15%, p = 0.05). Endocrinologists referred for both treatments equally (p = 0.82). Both treatments were offered after a minimum 1-year trial of medical management (p = 0.15). RAI patients mostly had Graves (93%), versus 73% of thyroidectomy patients (p < 0.001). Thyroidectomy patients more frequently had eye symptoms (35% vs 13%, p < 0.001), compressive symptoms (74% vs 15%, p < 0.001), or were pregnant/nursing (14% vs 0, p < 0.001). While the thyroidectomy patients had a documented discussion of all treatment modalities, 79% of RAI patients did not have a documented discussion regarding the option of surgical management (p < 0.001). Both treatment groups achieved an euthyroid state (71% vs 65%, p = 0.39). Thyroidectomy patients became euthyroid faster [3 months (2-7 months) versus 9 months (4-14 months); p < 0.001]. CONCLUSIONS: Thyroidectomy for hyperthyroidism renders a patient to an euthyroid state faster than RAI. This finding may be important for patients and clinicians considering definitive options for hyperthyroidism.


Assuntos
Doença de Graves/terapia , Radioisótopos do Iodo/uso terapêutico , Tireoidectomia , Adulto , Comunicação , Feminino , Doença de Graves/sangue , Doença de Graves/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Educação de Pacientes como Assunto , Estudos Retrospectivos , Fatores de Tempo , Tri-Iodotironina/sangue
17.
Burns ; 44(7): 1839-1843, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30072197

RESUMO

BACKGROUND: The last generation has seen Ethiopia, a low income country with a population of 100 million people, undergo a marked increase in urbanization and development. The effects of these demographic changes on the epidemiology of burn risk and thermal injury in Ethiopia are unknown. This gap constitutes a major barrier to the creation of effective burn prevention programs. METHODS: Yekatit 12 Hospital in Addis Ababa is the only burn unit in Ethiopia. In this cross sectional retrospective study, we identified and reviewed all admissions due to burn injury at that facility between 1/1/2016 and 12/31/2016. We then compared them to a previously published burn cohort treated at the same facility between 7/1/2001 and 9/31/2002. Chi square was used to compare proportions between the two samples. Continuous covariates are reported as descriptive data due to missing variance data in the 2001-02 publication. RESULTS: There were a total of 121 subjects in the 2001-02 sample and 176 subjects in the 2016 sample. The 2016 sample was found to have a significantly larger proportion of males (57%) as compared to the 2001-02 sample (36%) (p=0.0003) and a significantly higher proportion of electrical injuries (27%) than the previous cohort (5%) (p<0.0001). No significant differences were seen in mortality rates between the 2016 and 2001-02 cohorts (8% vs 12%, respectively, p=0.29) or in the regions of origin (44% outside Addis Ababa vs 54%, p=0.09) For the 2016 sample, the highest surviving Baux score was 76 while the mean Baux score for survivors was 29.6±20.11. CONCLUSION: As Ethiopia has become more industrialized over the last 15 years, the demographic pattern of burn injury has changed accordingly as electrical injuries have increased five-fold with males now constituting a majority of burn cases.


Assuntos
Queimaduras/epidemiologia , Saúde Pública , Adolescente , Adulto , Idoso , Amputação Cirúrgica/estatística & dados numéricos , Unidades de Queimados , Queimaduras/prevenção & controle , Queimaduras/terapia , Queimaduras por Corrente Elétrica/epidemiologia , Queimaduras por Corrente Elétrica/prevenção & controle , Queimaduras por Corrente Elétrica/terapia , Criança , Pré-Escolar , Estudos de Coortes , Culinária , Estudos Transversais , Epilepsia/epidemiologia , Epilepsia/terapia , Etiópia/epidemiologia , Feminino , Hospitalização , Humanos , Incidência , Lactente , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Distribuição por Sexo , Transplante de Pele/estatística & dados numéricos , Fatores de Tempo , Adulto Jovem
18.
J Surg Res ; 205(2): 272-278, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27664872

RESUMO

BACKGROUND: Preincision operating room (OR) preparation varies greatly. Cases requiring exacting preoperative setup may be more sensitive to inconsistent team members and trainees. Leadership and oversight by the surgeon may facilitate a timely start. The study hypothesized that early attending presence in the OR expedites surgery start time, improving efficiency, and decreasing cost. METHODS: Prospective data collection of endocrine surgery cases at an urban teaching hospital was performed. Time points recorded in minutes. Cost/min of OR time was $54. Patients classified as in the OR ≤10 min before attending arrival or >10 min before attending arrival. RESULTS: A total of 227 cases (166 thyroid, 54 parathyroid, 10 adrenal) were performed over 14 mo. Of the patients, 128 were in the OR ≤10 min before attending arrival, and 99 patients were >10 min (3 ± 3 min versus 35 ± 14 min, P < 0.01). The ≤10 min procedures started sooner after patient arrival in OR (40 ± 11 versus 63 ± 19, P < 0.01) which equated to $1202 of savings before incision. Although attending time in the OR before incision was equivalent between groups for adrenal and parathyroid, time to incision was shorter in the ≤10 min groups, saving $2416 ± 477 and $1458 ± 244, respectively (P < 0.01). Attending time in OR before thyroidectomy was 13 min longer in ≤10 min than >10 min (P < 0.01), but incisions were made 20 min sooner (P < 0.01) equating to $1076 ± 120 in savings. CONCLUSIONS: Early attending presence in the OR shortens time to incision. For parathyroid and adrenal cases, this does not require additional surgeon time. In ORs without consistent teams, early attending presence in the OR improves efficiency and yields significant cost savings.


Assuntos
Eficiência Organizacional , Procedimentos Cirúrgicos Endócrinos , Custos Hospitalares/estatística & dados numéricos , Salas Cirúrgicas/organização & administração , Duração da Cirurgia , Cirurgiões/organização & administração , Adulto , Idoso , Feminino , Hospitais de Ensino/organização & administração , Humanos , Liderança , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Texas
19.
J Surg Res ; 200(1): 183-8, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26237993

RESUMO

BACKGROUND: During the course of evaluation for primary hyperaldosteronism, cross-sectional imaging is obtained in efforts to identify patients with an aldosterone producing adenoma (APA). A subset of these patients will have a synchronous, contralateral adrenal abnormality. Adrenal vein sampling (AVS) further guides clinical decision making by identifying unilateral (APA) versus bilateral hypersecretion. In the subset of patients with contralateral adrenal abnormalities, it is unclear how this affects the durability of an adrenalectomy for APA. This study characterizes this group of patients to assess the efficacy of surgical intervention. METHODS: A retrospective review of patients undergoing adrenalectomy for APA based on AVS at a university practice. Preoperative and postoperative patient characteristics, laboratory evaluations, imaging results, and final pathology were noted. RESULTS: From 2000 to 2011, 103 patients with APA underwent unilateral adrenalectomy. Eighteen patients (17%) had discordant results between AVS and imaging. Most of these patients were male (78%), and the mean age was 57 ± 13 y. Median duration of follow-up was 3.5 y [1 y, 6 y]. All patients with initial hypokalemia were rendered normokalemic after the operation. Four patients increased their antihypertensive regimen during the follow-up period. These patients all had nodular hyperplasia on final pathology. CONCLUSIONS: In patients with bilateral adrenal abnormalities who have undergone unilateral adrenalectomy for primary hyperaldosteronism, patients with clear APAs on final pathology appear to have durable outcomes after resection. Conversely, nodular hyperplasia on final pathology may be a risk factor for ongoing aldosterone hypersecretion. An algorithm for biochemical surveillance in this subset of patients should be considered.


Assuntos
Adenoma/diagnóstico , Neoplasias das Glândulas Suprarrenais/diagnóstico , Adrenalectomia , Hiperaldosteronismo/etiologia , Neoplasias Primárias Múltiplas/diagnóstico , Adenoma/complicações , Adenoma/cirurgia , Neoplasias das Glândulas Suprarrenais/complicações , Neoplasias das Glândulas Suprarrenais/cirurgia , Adulto , Idoso , Feminino , Seguimentos , Humanos , Hiperaldosteronismo/cirurgia , Masculino , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/complicações , Neoplasias Primárias Múltiplas/cirurgia , Estudos Retrospectivos , Resultado do Tratamento
20.
Endocr Pract ; 22(2): 190-5, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26492543

RESUMO

OBJECTIVE: To describe a patient with a germline succinate dehydrogenase (SDHC) gene mutation presenting with primary hyperparathyroidism and a large catecholamine-producing temporal bone paraganglioma (PGL). METHODS: Evaluation of a SDHC mutation-positive PGL tumor biology using staining for tyrosine hydroxylase (TH), hypoxia-inducible factors 1α (HIF-1α) and 2α (HIF-2α). RESULTS: A 66-year-old man was noted to have a lytic skull base mass during work-up for his primary hyperparathyroidism. Biochemical evaluation with 24-hour urine catecholamines and metanephrines revealed marked elevation of norepinephrine and normetanephrine. Genetic testing revealed a germline SDHC mutation. A partial excision of skull base tumor was performed, which upon further examination revealed PGL. Immunohistochemistry of skull base PGL demonstrated heavy expression of TH and HIF-2α but reduced expression of HIF-1α. The remaining skull base PGL was treated with adjuvant radiation therapy. The patient's normetanephrine levels significantly decreased after surgery and radiation. CONCLUSION: Here, we report an unusual case of a patient presenting with a germline SDHC mutation-related functional PGL along with concomitant primary hyperparathyroidism. The present case illustrates that overexpression of HIF-2α but not of HIF-1α is linked to the pathogenesis of SDHC mutation-related PGL, and it may be responsible for the aggressive clinical behavior of a usually indolent course of SDHC-related PGLs.


Assuntos
Fatores de Transcrição Hélice-Alça-Hélice Básicos/metabolismo , Proteínas de Membrana/genética , Paraganglioma/patologia , Neoplasias Cranianas/patologia , Osso Temporal/patologia , Idoso , Mutação em Linhagem Germinativa , Humanos , Masculino , Invasividade Neoplásica , Paraganglioma/diagnóstico por imagem , Paraganglioma/genética , Paraganglioma/metabolismo , Cintilografia , Transdução de Sinais , Neoplasias Cranianas/diagnóstico por imagem , Neoplasias Cranianas/genética , Neoplasias Cranianas/metabolismo , Regulação para Cima
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