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1.
J Med Genet ; 60(9): 894-904, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-36813542

RESUMO

BACKGROUND: The triggering receptor expressed on myeloid cell 2 (TREM2) is a major regulator of neuroinflammatory processes in neurodegeneration. To date, the p.H157Y variant of TREM2 has been reported only in patients with Alzheimer's disease. Here, we report three patients with frontotemporal dementia (FTD) from three unrelated families with heterozygous p.H157Y variant of TREM2: two patients from Colombian families (study 1) and a third Mexican origin case from the USA (study 2). METHODS: To determine if the p.H157Y variant might be associated with a specific FTD presentation, we compared in each study the cases with age-matched, sex-matched and education-matched groups-a healthy control group (HC) and a group with FTD with neither TREM2 mutations nor family antecedents (Ng-FTD and Ng-FTD-MND). RESULTS: The two Colombian cases presented with early behavioural changes, greater impairments in general cognition and executive function compared with both HC and Ng-FTD groups. These patients also exhibited brain atrophy in areas characteristic of FTD. Furthermore, TREM2 cases showed increased atrophy compared with Ng-FTD in frontal, temporal, parietal, precuneus, basal ganglia, parahippocampal/hippocampal and cerebellar regions. The Mexican case presented with FTD and motor neuron disease (MND), showing grey matter reduction in basal ganglia and thalamus, and extensive TDP-43 type B pathology. CONCLUSION: In all TREM2 cases, multiple atrophy peaks overlapped with the maximum peaks of TREM2 gene expression in crucial brain regions including frontal, temporal, thalamic and basal ganglia areas. These results provide the first report of an FTD presentation potentially associated with the p.H157Y variant with exacerbated neurocognitive impairments.


Assuntos
Doença de Alzheimer , Demência Frontotemporal , Humanos , Demência Frontotemporal/genética , Demência Frontotemporal/patologia , Doença de Alzheimer/genética , Doença de Alzheimer/patologia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Atrofia , Glicoproteínas de Membrana/genética , Receptores Imunológicos/genética
2.
Curr Issues Mol Biol ; 45(11): 8716-8732, 2023 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-37998725

RESUMO

Type 2 diabetes (T2D) is a chronic systemic disease with a complex etiology, characterized by insulin resistance and mitochondrial dysfunction in various cell tissues. To explore this relationship, we conducted a secondary analysis of complete mtDNA sequences from 1261 T2D patients and 1105 control individuals. Our findings revealed significant associations between certain single-nucleotide polymorphisms (SNPs) and T2D. Notably, the variants m.1438A>G (rs2001030) (controls: 32 [27.6%], T2D: 84 [72.4%]; OR: 2.46; 95%CI: 1.64-3.78; p < 0.001), m.14766C>T (rs193302980) (controls: 498 [36.9%], T2D: 853 [63.1%]; OR: 2.57, 95%CI: 2.18-3.04, p < 0.001), and m.16519T>C (rs3937033) (controls: 363 [43.4%], T2D: 474 [56.6%]; OR: 1.24, 95%CI: 1.05-1.47, p = 0.012) were significantly associated with the likelihood of developing diabetes. The variant m.16189T>C (rs28693675), which has been previously documented in several studies across diverse populations, showed no association with T2D in our analysis (controls: 148 [13.39] T2D: 171 [13.56%]; OR: 1.03; 95%CI: 0.815-1.31; p = 0.83). These results provide evidence suggesting a link between specific mtDNA polymorphisms and T2D, possibly related to association rules, topological patterns, and three-dimensional conformations associated with regions where changes occur, rather than specific point mutations in the sequence.

3.
Neuroendocrinology ; 113(6): 657-666, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36693324

RESUMO

INTRODUCTION: It is estimated that 30-40% of patients with apparently sporadic pheochromocytomas (PHEOs) have an inherited predisposition syndrome. The aim of our study was to develop a predictive model of hereditary PHEO based on the clinical, hormonal, and radiological features present at the diagnosis of patients with PHEOs. METHODS: A retrospective multicenter cohort study of patients with PHEOs with available genetic study from 18 tertiary hospitals. Clinical, biochemical, and radiological features were used to build a multivariate logistic regression model. The estimation of all possible equations was used to select the model with the best diagnostic accuracy (lower Akaike index). RESULTS: A total of 245 patients were included: 169 (69.0%) patients with sporadic PHEOs and 76 (31%) with hereditary PHEOs. The parsimonious predictive model with the highest diagnostic accuracy for the prediction of hereditary PHEO combined the variables age, non-cardiovascular disease, urinary norepinephrine levels, and tumor size. The area under the ROC curve of this model was 0.800 (0.705-0.887). Based on the predictive model, the probability of hereditary PHEO in patients older than 60 years with cardiovascular disease, high levels of urinary norepinephrine and unilateral PHEOs >60 mm was <2%. And if the age was above 80 years, lower than 1%. The probability of sporadic PHEO linearly increased with age (MH Test for linear Trend: χ2 (1) = 30.05; p < 0.001). CONCLUSION: In certain populations such as old patients with cardiovascular disease, with high levels of urinary norepinephrine and large tumors in which the probability of hereditary PHEO is very low, genetic testing could be avoided in the absence of specific suspicion.


Assuntos
Neoplasias das Glândulas Suprarrenais , Feocromocitoma , Humanos , Idoso de 80 Anos ou mais , Feocromocitoma/diagnóstico , Feocromocitoma/genética , Feocromocitoma/patologia , Estudos de Coortes , Testes Genéticos , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias das Glândulas Suprarrenais/patologia , Norepinefrina
4.
Int J Mol Sci ; 24(16)2023 Aug 10.
Artigo em Inglês | MEDLINE | ID: mdl-37628804

RESUMO

Cancer is a process involving cell mutation, increased proliferation, invasion, and metastasis. Over the years, this condition has represented one of the most concerning health problems worldwide due to its significant morbidity and mortality. At present, the incidence of cancer continues to grow exponentially. Thus, it is imperative to open new avenues in cancer research to understand the molecular changes driving DNA transformation, cell-to-cell interaction derangements, and immune system surveillance decay. In this regard, evidence supports the relationship between chronic inflammation and cancer. In light of this, a group of bioactive lipids derived from polyunsaturated fatty acids (PUFAs) may have a position as novel anti-inflammatory molecules known as the specialized pro-resolving mediators (SPMs), a group of pro-resolutive inflammation agents that could improve the anti-tumor immunity. These molecules have the potential role of chemopreventive and therapeutic agents for various cancer types, and their effects have been documented in the scientific literature. Thus, this review objective centers around understanding the effect of SPMs on carcinogenesis and their potential therapeutic effect.


Assuntos
Carcinogênese , Inflamação , Humanos , Comunicação Celular , Vigilância Imunológica , Lipídeos
5.
Int J Eat Disord ; 55(2): 247-253, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34957571

RESUMO

OBJECTIVE: To determine sex differences in refeeding (i.e., short-term nutritional rehabilitation) outcomes among hospitalized adolescents and young adults with eating disorders. METHODS: We retrospectively reviewed electronic medical records of 601 patients aged 9-25 years admitted to the University of California, San Francisco Eating Disorders Program for medical and nutritional management between May 2012 and August 2020. Descriptive statistics, crude, and adjusted linear regression models were used to assess the association between sex and nutritional outcomes and predictors of length of stay. RESULTS: A total of 588 adolescents and young adults met eligibility criteria (16% male, mean [SD] age 15.96 [2.75], 71.6% anorexia nervosa, admission percent median body mass index [%mBMI] 87.1 ± 14.1). In unadjusted comparisons, there were no significant sex differences in prescribed kilocalories (kcal) per day at admission (2013 vs. 1980, p = .188); however, males had higher estimated energy requirements (EER, kcal) (3,694 vs. 2,925, p < .001). In linear regression models adjusting for potential confounders, male sex was associated with higher prescribed kcals at discharge (B = 835 kcal, p < .001), greater weight change (B = 0.47 kg, p = .021), and longer length of stay (B = 1.94 days, p = .001) than females. Older age, lower admission weight, lower prescribed kcal at admission, higher EER, and lower heart rate at admission were factors associated with longer length of stay in a linear regression model. DISCUSSION: These findings support the development of individualized approaches for males with eating disorders to improve quality of care and health care efficiency among an underserved population.


Assuntos
Adolescente Hospitalizado , Anorexia Nervosa , Transtornos da Alimentação e da Ingestão de Alimentos , Adolescente , Adulto , Anorexia Nervosa/epidemiologia , Criança , Transtornos da Alimentação e da Ingestão de Alimentos/terapia , Feminino , Hospitalização , Humanos , Masculino , Estudos Retrospectivos , Caracteres Sexuais , Adulto Jovem
6.
BMC Public Health ; 22(1): 1235, 2022 06 21.
Artigo em Inglês | MEDLINE | ID: mdl-35729622

RESUMO

BACKGROUND: Among those at highest risk for COVID-19 exposure is the large population of frontline essential workers in occupations such food service, retail, personal care, and in-home health services, among whom Black and Latino/Hispanic persons are over-represented. For those not vaccinated and at risk for exposure to COVID-19, including frontline essential workers, regular (approximately weekly) COVID-19 testing is recommended. However, Black and Latino/Hispanic frontline essential workers in these occupations experience serious impediments to COVID-19 testing at individual/attitudinal- (e.g., lack of knowledge of guidelines), social- (e.g., social norms), and structural-levels of influence (e.g., poor access), and rates of testing for COVID-19 are insufficient. METHODS/DESIGN: The proposed community-engaged study uses the multiphase optimization strategy (MOST) framework and an efficient factorial design to test four candidate behavioral intervention components informed by an integrated conceptual model that combines critical race theory, harm reduction, and self-determination theory. They are A) motivational interview counseling, B) text messaging grounded in behavioral economics, C) peer education, and D) access to testing (via navigation to an appointment vs. a self-test kit). All participants receive health education on COVID-19. The specific aims are to: identify which components contribute meaningfully to improvement in the primary outcome, COVID-19 testing confirmed with documentary evidence, with the most effective combination of components comprising an "optimized" intervention that strategically balances effectiveness against affordability, scalability, and efficiency (Aim 1); identify mediators and moderators of the effects of components (Aim 2); and use a mixed-methods approach to explore relationships among COVID-19 testing and vaccination (Aim 3). Participants will be N = 448 Black and Latino/Hispanic frontline essential workers not tested for COVID-19 in the past six months and not fully vaccinated for COVID-19, randomly assigned to one of 16 intervention conditions, and assessed at 6- and 12-weeks post-baseline. Last, N = 50 participants will engage in qualitative in-depth interviews. DISCUSSION: This optimization trial is designed to yield an effective, affordable, and efficient behavioral intervention that can be rapidly scaled in community settings. Further, it will advance the literature on intervention approaches for social inequities such as those evident in the COVID-19 pandemic. TRIAL REGISTRATION: ClinicalTrials.gov: NCT05139927 ; Registered on 11/29/2021. Protocol version 1.0. May 2, 2022, Version 1.0.


Assuntos
Teste para COVID-19 , COVID-19 , População Negra , COVID-19/diagnóstico , Hispânico ou Latino , Humanos , Pandemias/prevenção & controle , Ensaios Clínicos Controlados Aleatórios como Assunto
7.
Eat Weight Disord ; 27(7): 2911-2917, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35624393

RESUMO

PURPOSE: To determine sex differences in and associations between zinc deficiency and anemia among adolescents and young adults hospitalized for medical complications of eating disorders. METHODS: We retrospectively reviewed electronic medical records of 601 patients aged 9-25 years admitted to the University of California, San Francisco Eating Disorders Program for medical instability, between May 2012 and August 2020. Descriptive statistics, crude, and adjusted logistic regression models were used to assess the association between zinc deficiency (< 55 mcg/dL) and anemia (< 13.6 g/dL in males [M] and < 11.8 g/dL in females [F]). RESULTS: A total of 87 males and 450 females met eligibility criteria (age 15.98 ± 2.81, 59.4% anorexia nervosa; admission body mass index 17.49 ± 2.82). In unadjusted comparisons, plasma zinc in males and females were not statistically different (M 64.88 ± 14.89 mcg/dL vs F 63.81 ± 13.96 mcg/dL, p = 0.517); moreover, there were no differences in the percentage of males and females with zinc deficiency (M 24.14% vs F 24.89%). However, a greater percentage of males than females were anemic (M 50.00% vs F 17.61%, p < 0.001), with similar findings in the subgroup with anorexia nervosa. In logistic regression models stratified by sex and eating disorder diagnosis, zinc deficiency was significantly associated with anemia in males (AOR 3.43, 95% CI 1.16, 10.13), but not females (AOR 1.47, 95% CI 0.86, 2.54). CONCLUSIONS: For the first time, we demonstrate that zinc deficiency is equally severe in males compared to females hospitalized with medical complications from eating disorders, with nearly a quarter of inpatients experiencing zinc deficiency. Anemia is more common in males than females hospitalized with eating disorders. LEVEL OF EVIDENCE: Level V: descriptive cross-sectional study.


Assuntos
Adolescente Hospitalizado , Anemia , Anorexia Nervosa , Transtornos da Alimentação e da Ingestão de Alimentos , Desnutrição , Adolescente , Anemia/epidemiologia , Anorexia Nervosa/complicações , Anorexia Nervosa/diagnóstico , Estudos Transversais , Transtornos da Alimentação e da Ingestão de Alimentos/complicações , Feminino , Humanos , Masculino , Estudos Retrospectivos , Caracteres Sexuais , Adulto Jovem , Zinco
8.
J Perinat Med ; 49(2): 229-236, 2021 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-32364515

RESUMO

BACKGROUND: Umbilical cord (UC) abnormalities are related to neurological outcome and death; specific molecular factors that might be involved are, as yet, unknown; however, protein-coding genes insulin-like growth factor 2 (IGF2) and cyclin-dependent kinase inhibitor 1C (CDKN1C) have been identified as potential candidates. METHODS: An analytical observational study was carried out. Newborn UCs were collected, along with their clinical and morphological features. Immunohistochemical analysis was made on paraffin-embedded sections and quantitative reverse transcription polymerase chain reaction (qRT-PCR) was performed in fresh UC tissue for the assessment of gene expression. RESULTS: A total of 100 newborns were included. A significant association was found between long UC and prematurity [odds ratio (OR) 9] and long UC and respiratory distress (OR 4.04). Gestational diabetes (OR 8.55) and hypertensive disorders of pregnancy (HDP) (OR 4.71) were found to be related to short UCs. The frequency for abnormal UC length was higher than expected. UC length was positively correlated with maternal, newborn and placental weight. No statistical association was found between IGF2 and CDKN1C (p57) expression and UC length; however, there was a tendency for higher CDKN1C expression in short UCs, while, on the contrary, higher IGF2 expression for long UCs. CONCLUSION: UC length was observed to be associated with maternal and newborn complications. Protein expression, messenger RNA (mRNA) activity and the activity of said genes seem to be related to UC length.


Assuntos
Inibidor de Quinase Dependente de Ciclina p57/metabolismo , Doenças do Recém-Nascido/patologia , Fator de Crescimento Insulin-Like II/metabolismo , Complicações na Gravidez/patologia , Cordão Umbilical/patologia , Adulto , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/metabolismo , Masculino , Gravidez , Complicações na Gravidez/metabolismo , Cordão Umbilical/metabolismo
9.
J Obstet Gynaecol Res ; 47(7): 2307-2317, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33876519

RESUMO

AIM: To analyze the differential genetic expression and protein localization of thrombomodulin (THBD) and tissue factor (F3) in the placentas of pregnancies affected by preeclampsia. METHODS: We assessed the expression of THBD and F3 by immunohistochemistry and real-time polymerase chain reaction (PCR) in placentas from 20 PE cases: 10 early-onset PE placentas, 10 late-onset PE placentas, and 10 control cases (normal pregnancies). RESULTS: In cases, we found higher THBD and F3 RNA levels in placental tissue. Protein expression in controls differed from that in late-onset PE placentas, which had lower THBD levels in syncytiotrophoblasts and amniotic cells. Likewise, late-onset PE placentas exhibited comparatively lower F3 expression in the perivillous fibrin. In contrast, early-onset PE had high F3 expression in the subdecidual fibrin. We found no significant differences in the F3/THBD ratio between the groups. CONCLUSION: Our study supports evidence that shows the involvement of F3 and THBD in placental disorders. Furthermore, this finding contributes to a better understanding of the physio-pathological role that these molecules may play in the development of this heterogeneous disease.


Assuntos
Pré-Eclâmpsia , Estudos de Casos e Controles , Feminino , Humanos , Placenta , Gravidez , Trombomodulina , Tromboplastina , Trofoblastos
10.
J Ultrasound Med ; 38(10): 2565-2571, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30693978

RESUMO

OBJECTIVES: We aimed to compare the effectiveness of contrast-enhanced ultrasound (CEUS), technetium Tc 99m methoxyisobutylisonitrile (99m Tc-MIBI) single-photon emission computed tomographic (SPECT) scintigraphy, and high-resolution ultrasound (US) in the detection of a pathologic parathyroid gland in patients with primary hyperparathyroidism (pHPT). METHODS: Twenty-nine consecutive patients with pHPT were prospectively enrolled and underwent preoperative imaging with 99m Tc-MIBI SPECT scintigraphy, high-resolution US, and CEUS and subsequent parathyroidectomy. Contrast-enhanced US examinations were performed by an experienced examiner who was blinded to the results of scintigraphy and high-resolution US. The diagnostic performance of all of the imaging tests was analyzed in comparison with the pathologic anatomic findings. All investigations were performed at La Paz University Hospital. RESULTS: In the 29 patients (22 female and 7 male), a total of 31 parathyroid adenomas were detected: single lesions in 27 patients and a double lesion in 2 patients. Contrast-enhanced US revealed sensitivity of 66.7% (95% confidence interval [CI], 46%-82.7%) for detection of single adenomas in comparison with 77.8 % (95% CI, 57.3%-90.6) for 99m Tc-MIBI SPECT scintigraphy and 51.8% (95% CI, 32.3%-70.8%) for high-resolution US (P = .100). With CEUS, double adenomas could be detected in both cases (sensitivity, 100%); however, scintigraphy and high-resolution US did not detect any cases of double adenomas. In addition, CEUS allowed the differentiation of lymphatic nodes from parathyroid glands in 2 patients. No side effects were observed for CEUS. CONCLUSIONS: In our study, CEUS facilitated the detection and diagnosis of double adenomas compared with high-resolution US and 99m Tc-MIBI SPECT scintigraphy. Additionally, CEUS was useful in the differentiation between parathyroid adenomas and lymph nodes.


Assuntos
Meios de Contraste , Hiperparatireoidismo Primário/diagnóstico por imagem , Aumento da Imagem/métodos , Cuidados Pré-Operatórios/métodos , Ultrassonografia/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Compostos de Organotecnécio , Glândulas Paratireoides/diagnóstico por imagem , Estudos Prospectivos , Compostos Radiofarmacêuticos , Sensibilidade e Especificidade , Tomografia Computadorizada de Emissão de Fóton Único
11.
Endocrine ; 83(3): 527-536, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37884825

RESUMO

PURPOSE: To summarize the available data on the prevalence, clinical repercussion, and diagnosis of primary aldosteronism (PA) and to discuss the SPAIN-ALDO registry's findings, which is the largest PA patient registry in Spain. METHODS: A comprehensive review of the literature focused on the prevalence, clinical presentation and diagnosis of PA was performed. RESULTS: PA is the most common cause of secondary arterial hypertension. In addition, PA patients have a higher cardio-metabolic risk than patients with essential arterial hypertension matched by age, sex, and blood pressure levels. However, despite its high prevalence and associated metabolic and cardiovascular complications, PA remains largely under-recognized, with less than 2% of people in at-risk populations ever tested. The diagnostic investigation is a multistep process, including screening, confirmatory testing, and subtype differentiation of unilateral from bilateral PA forms. Data from the SPAIN-ALDO registry have shed light on the cardiometabolic impact of PA and about the limitations in the PA diagnosis of these patients in Spain. CONCLUSIONS: The most common cause of secondary hypertension is PA. One of the most challenging aspects of the diagnosis is the differentiation between unilateral and bilateral PA because adrenal venous sampling is a difficult procedure that should be performed in experienced centers. Data from the SPAIN-ALDO registry have provided important information on the nationwide management of this pathology.


Assuntos
Hiperaldosteronismo , Hipertensão , Humanos , Hiperaldosteronismo/diagnóstico , Hiperaldosteronismo/epidemiologia , Aldosterona/metabolismo , Espanha/epidemiologia , Hipertensão/diagnóstico , Hipertensão/epidemiologia , Hipertensão/etiologia , Pressão Sanguínea , Renina
12.
Vet Parasitol Reg Stud Reports ; 47: 100951, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-38199694

RESUMO

Taeniasis/cysticercosis complex caused by Taenia solium, is a serious public health problem and causes major economic losses to swine producers in developing countries in Asia, Africa and the Americas. Despite scarce epidemiological data, Guatemala is considered endemic for T. solium. A cross-sectional study was conducted in Azacualpa and Malpais, two villages in the department of Zacapa, to assess the prevalence of swine cysticercosis and associated factors. Between March and October 2019, 149 pigs were examined by tongue palpation and serum samples were then collected to detect antibodies by ab-ELISA, and necropsy was performed on pigs that were positive by tongue palpation and/or ab-ELISA, to assess parasite load. Pig owners were asked to fill out a questionnaire on factors related to pig husbandry and occurrence of swine cysticercosis. Pearson's chi-square test and multivariate analysis were used to measure the association between serological results and other variables (p < 0.05 was considered significant). The seroprevalence of swine cysticercosis was 13.4% (13/97, 95% C.I. 6.6%-20.2%) and 25% (13/52, 95% C.I. 13.2%-36.8%) in Azacualpa and Malpais, respectively, yielding an overall seroprevalence of 17.4% (26/149, 95% C.I. 11.4%-23.5%). Parasite loads ranged from 1 to over 23,000 metacestodes per carcass. No bivariate association was found between exposure variables and seropositivity. A positive diagnosis by tongue palpation increased the odds of finding pigs seropositive for cysticercosis by a factor of 16.1 in the multivariate analysis. Despite the high prevalence and parasite load of T. solium, risk factors associated with cysticercosis were not significant in this study.


Assuntos
Cisticercose , Doenças dos Suínos , Animais , Suínos , Guatemala/epidemiologia , Estudos Transversais , População Rural , Estudos Soroepidemiológicos , Cisticercose/epidemiologia , Cisticercose/veterinária , Doenças dos Suínos/epidemiologia
13.
Artigo em Inglês | MEDLINE | ID: mdl-38346491

RESUMO

BACKGROUND AND OBJECTIVE: Nodal metastases in the central compartment are frequent in papillary thyroid cancer (PTC). However, they are mostly micrometastases with no impact on survival and their relevance on the risk of locoregional relapse is controversial. There is no consensus regarding optimal management of the central neck in patients with PTC cN0. In our center, we do not perform prophylactic central neck dissection (pCND). The objective of this study is to review our long-term results and compare them with the most recent literature. PATIENTS AND METHODS: Retrospective review of patients with PTC who underwent total thyroidectomy (TT) without CND between 2005 and 2017. Primary result was disease-free survival in the neck (DFS). RESULTS: 321 patients were identified, mostly T1-T2 tumors (94.1%). Median follow-up was 90 months. DFS in the central compartment was excellent (96.1% at 10 year's follow-up). 19 patients had cervical recurrence, of which 15 underwent salvage surgery. On their last visit, including salvage surgery when appropriate, 77% of patients had excellent response, 18.7% had indeterminate response, 3.1% had biochemically incomplete response and 1.2% had morphologically incomplete response. Recurrent laryngeal nerve (RLN) paralysis after TT was transient in 4.7% of patients and permanent in 0.9% of patients. There were no RLN paralysis after salvage surgery. Permanent hypoparathyroidism occurred in 3.4% of patients. Only one patient had hypoparathyroidism after salvage surgery and it was permanent. CONCLUSIONS: Based on long-term results and low rate of complications associated with salvage surgery in our experience, we consider routine pCND is not justified.

14.
Endocrine ; 2024 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-38507182

RESUMO

Primary aldosteronism (PA) is the most frequent cause of secondary hypertension and is associated with a higher cardiometabolic risk than essential hypertension. The aim of this consensus is to provide practical clinical recommendations for its surgical and medical treatment, pathology study and biochemical and clinical follow-up, as well as for the approach in special situations like advanced age, pregnancy and chronic kidney disease, from a multidisciplinary perspective, in a nominal group consensus approach of experts from the Spanish Society of Endocrinology and Nutrition (SEEN), Spanish Society of Cardiology (SEC), Spanish Society of Nephrology (SEN), Spanish Society of Internal Medicine (SEMI), Spanish Radiology Society (SERAM), Spanish Society of Vascular and Interventional Radiology (SERVEI), Spanish Society of Laboratory Medicine (SEQC(ML)), Spanish Society of Anatomic-Pathology and Spanish Association of Surgeons (AEC).

15.
Endocrine ; 2024 Mar 06.
Artigo em Inglês | MEDLINE | ID: mdl-38448679

RESUMO

Primary aldosteronism (PA) is the most frequent cause of secondary hypertension (HT), and is associated with a higher cardiometabolic risk than essential HT. However, PA remains underdiagnosed, probably due to several difficulties clinicians usually find in performing its diagnosis and subtype classification. The aim of this consensus is to provide practical recommendations focused on the prevalence and the diagnosis of PA and the clinical implications of aldosterone excess, from a multidisciplinary perspective, in a nominal group consensus approach by experts from the Spanish Society of Endocrinology and Nutrition (SEEN), Spanish Society of Cardiology (SEC), Spanish Society of Nephrology (SEN), Spanish Society of Internal Medicine (SEMI), Spanish Radiology Society (SERAM), Spanish Society of Vascular and Interventional Radiology (SERVEI), Spanish Society of Laboratory Medicine (SEQC(ML)), Spanish Society of Anatomic-Pathology, Spanish Association of Surgeons (AEC).

16.
High Blood Press Cardiovasc Prev ; 31(1): 43-53, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38225508

RESUMO

INTRODUCTION: Primary aldosteronism (PA) is associated with several cardiometabolic comorbidities. Specific treatment by mineralocorticoid receptor antagonists (MRA) or adrenalectomy has been reported to reduce the cardiometabolic risk. However, the cardiovascular benefit could depend on plasma renin levels in patients on MRA. AIM: To compare the development of cardiovascular, renal and metabolic complications between medically treated patients with PA and those who underwent adrenalectomy, taking the renin status during MRA treatment into account. METHODS: A multicenter retrospective study (SPAIN-ALDO Register) of patients with PA treated at 35 Spanish tertiary hospitals. Patients on MRA were divided into two groups based on renin suppression (n = 90) or non-suppression (n = 70). Both groups were also compared to unilateral PA patients (n = 275) who achieved biochemical cure with adrenalectomy. RESULTS: Adrenalectomized patients were younger, had higher plasma aldosterone concentration, and lower potassium levels than MRA group. Patients on MRA had similar baseline characteristics when stratified into treatment groups with suppressed and unsuppressed renin. 97 (55.1%) of 176 patients without comorbidities at diagnosis, developed at least one comorbidity during follow-up (median 12 months vs. 12.5 months' follow-up after starting MRA and surgery, respectively). Surgery group had a lower risk of developing new cardiovascular events (HR 0.40 [95% CI 0.18-0.90]) than MRA group. Surgical treatment improved glycemic and blood pressure control, increased serum potassium levels, and required fewer antihypertensive drugs than medical treatment. However, there were no differences in the cardiometabolic profile or the incidence of new comorbidities between the groups with suppressed and unsuppressed renin levels (HR 0.95 [95% CI 0.52-1.73]). CONCLUSION: Cardiovascular, renal, and metabolic events were comparable in MRA patients with unsuppressed and suppressed renin. Effective surgical treatment of PA was associated with a decreased incidence of new cardiovascular events when compared to MRA therapy.


Assuntos
Doenças Cardiovasculares , Hiperaldosteronismo , Hipertensão , Humanos , Adrenalectomia , Aldosterona , Biomarcadores , Doenças Cardiovasculares/tratamento farmacológico , Hiperaldosteronismo/diagnóstico , Hiperaldosteronismo/tratamento farmacológico , Hiperaldosteronismo/epidemiologia , Hipertensão/diagnóstico , Hipertensão/tratamento farmacológico , Hipertensão/epidemiologia , Antagonistas de Receptores de Mineralocorticoides/farmacologia , Antagonistas de Receptores de Mineralocorticoides/uso terapêutico , Potássio/metabolismo , Sistema de Registros , Renina/metabolismo , Estudos Retrospectivos , Espanha/epidemiologia
17.
Syst Rev ; 12(1): 22, 2023 02 23.
Artigo em Inglês | MEDLINE | ID: mdl-36814260

RESUMO

BACKGROUND: A recent world health report suggests that there is a growing rehabilitation human resource crisis. This review focuses on the capacity-building needed to meet present and future rehabilitation challenges in low- and middle-income countries (LMICs). Capacity-building is the process by which individuals and organizations obtain, improve, and retain the skills, knowledge, tools, equipment, and other resources needed to do their jobs competently. The objectives of this review are (1) to determine how capacity-building has been defined, implemented, and evaluated in LMICs and (2) to provide an overview of the effectiveness of capacity-building initiatives. METHODS: In the first of seven stages, we will refine and delimit the research. Then, we will identify relevant studies by searching five biomedical databases, two rehabilitation databases, three regional databases, and three databases of gray literature. Two independent reviewers will then select the studies using a priori selection criteria. We will exclude incomplete records, records published prior to 2000 for databases and 2010 for gray literature, and records written in languages other than English or Spanish. We will also exclude records focusing on entry-to-practice programs in academic settings. For Objective 1, using qualitative analysis software, we will extract and analyze text from included records that define or explains capacity building. For Objective 2, using an online file-sharing platform, one reviewer will extract data describing the effectiveness of capacity-building interventions and a second reviewer will verify the accuracy, with disagreements resolved by consensus. The results will be collated using tables and charts. After synthesizing the results, we will discuss the practicality and applicability of the findings with partners from Honduras and Colombia. We will use several formats and venues including presentations and publications in English and Spanish to present our results. DISCUSSION: To our knowledge, this will be the first attempt to systematically identify knowledge of capacity-building and rehabilitation in LMICs. This scoping review results will offer unique insights concerning the breadth and depth of literature in the area. It is anticipated that results from this scoping review will guide efforts in future capacity-building efforts in rehabilitation in LMICs. REVIEW REGISTRATION: Busch AJ, Deprez D, Bidonde J, Ramírez PA, Araque EP. Capacity building and continuing professional development in healthcare and rehabilitation in low- and middle-income countries-a scoping review. 2021. https://doi.org/10.17605/OSF.IO/7VGXU .


RESUMEN: INTRODUCCIóN: La literatura mundial sugiere que existe una creciente crisis de recursos humanos en el área de rehabilitación. Esta Revisión Sistemática Exploratoria se centra en el desarrollo de capacidades en el área de rehabilitación en países de ingresos bajos y medianos (PIBM). El desarrollo de capacidades es el proceso mediante el cual las personas y las organizaciones obtienen, mejoran y retienen las habilidades, el conocimiento, las herramientas, el equipo y otros recursos necesarios para realizar su trabajo de manera competente. OBJETIVOS: Determinar cómo se ha definido, implementado y evaluado el desarrollo de capacidades en rehabilitación en los PIBM; y proporcionar una síntesis sobre la eficacia de las iniciativas de desarrollo de capacidades en rehabilitación en los PIBM. MéTODOS: En la primera de siete etapas, refinaremos las preguntas de la investigación. Luego, identificaremos estudios relevantes mediante la búsqueda de cinco bases de datos y tres bases de datos de literatura gris. Dos revisores en forma independiente seleccionarán los estudios utilizando criterios definidos a priori. Excluiremos registros (artículos y otra literatura) incompletos, publicados antes de 2000 para bases de datos y 2010 para literatura gris, y escritos en idiomas que no sean inglés o español. También excluiremos registros que sobre programas de ingreso a la práctica profesional (académicos). Para el Objetivo 1, extraeremos y analizaremos el texto que define las estrategias/iniciativas de desarrollo de capacidades en rehabilitación utilizando un software de análisis cualitativo. Para el Objetivo 2, un revisor extraerá datos que describen la efectividad de las intervenciones y un segundo revisor verificará la precisión de los datos utilizando una plataforma electrónica. Los desacuerdos entre revisores se resolverán por consenso. Los resultados se presentarán usando tablas y gráficos. Consultaremos con colegas de PIBM sobre la aplicabilidad de los hallazgos. Para la diseminación de resultados, usaremos presentaciones y publicaciones en inglés y español. DISCUSIóN: Hasta donde sabemos, esta será la primera revisión exploratoria para identificar el desarrollo de capacidades en rehabilitación en los PIBM. Se prevé que los resultados de esta revisión guiarán los esfuerzos futuros de desarrollo de capacidades en la rehabilitación de los PIBM.


Assuntos
Fortalecimento Institucional , Países em Desenvolvimento , Humanos , Atenção à Saúde , Literatura de Revisão como Assunto
18.
Cureus ; 15(9): e45964, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37900398

RESUMO

Trichobacteriosis (trichomycosis) is an asymptomatic infection at the axillary hair level caused by a bacterium of Corynebacterium spp. The aim of this study is to identify the clinical, epidemiological, and microbiological characteristics of previously reported cases. A review was conducted including the cases of trichomycosis (trichobacteriosis) reported in the PubMed database up to June 2023. Twenty-nine articles were included, involving 365 patients in total. A higher incidence was observed in men, representing 94% of the cases, most of which were in the age range of 20-50 years. The most frequently affected clinical topography was the axillar (90% of the cases). Most of the patients presented change in hair texture and bromhidrosis, some other frequent clinical manifestations were hyperhidrosis, hair color change, and cromhidrosis; 6% of the patients were asymptomatic. The etiological agent most frequently identified was Corynebacterium spp., the flavescens variety being the most prevalent. The most common form of treatment was shaving and topical clindamycin. In conclusion, trichobacteriosis is an infection that most frequently affects men at the axillary level; it manifests clinically with few symptoms and usually has a good response to treatment.

19.
Curr Cardiol Rev ; 19(4): e020223213408, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36733248

RESUMO

Atherosclerosis is one of the most relevant and prevalent cardiovascular diseases of our time. It is one of the pathological entities that increases the morbidity and mortality index in the adult population. Pathophysiological connections have been observed between atherosclerosis and the gut microbiome (GM), represented by a group of microorganisms that are present in the gut. These microorganisms are vital for metabolic homeostasis in humans. Recently, direct and indirect mechanisms through which GM can affect the development of atherosclerosis have been studied. This has led to research into the possible modulation of GM and metabolites as a new target in the prevention and treatment of atherosclerosis. The goal of this review is to analyze the physiopathological mechanisms linking GM and atherosclerosis that have been described so far. We also aim to summarize the recent studies that propose GM as a potential target in atherosclerosis management.


Assuntos
Aterosclerose , Doenças Cardiovasculares , Microbioma Gastrointestinal , Humanos , Microbioma Gastrointestinal/fisiologia , Aterosclerose/terapia , Aterosclerose/patologia
20.
Endocrinol Diabetes Nutr (Engl Ed) ; 70(6): 374-380, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36517385

RESUMO

OBJECTIVE: To evaluate the indication and the resources for the screening/diagnosis of primary aldosteronism (PA) in Endocrinology units in Spain. MATERIAL AND METHODS: An anonymous 2-phase (2020/2021) online survey was conducted by the AdrenoSEEN group among SEEN members with data about screening, confirmation tests, availability of catheterisation and the treatment of PA. RESULTS: Eighty-eight (88) specialists completed the survey. Plasma aldosterone concentration and plasma renin activity were available at all centres; urinary aldosterone was available in 55% of them. The most frequent indications for determining the aldosterone/renin ratio (ARR) were adrenal incidentaloma (82.6%), hypertension with hypokalaemia (82.6%), hypertension in patients <40 years (79.1%) and a family history of PA (77.9%). 61% and 18% of the respondents used an ARR cut-off value of PA of ≥30 and 20ng/dl per ng/mL/, respectively. The intravenous saline loading test was the most commonly used confirmatory test (66.3%), followed by the captopril challenge test (24.4%), with the 25mg dose used more than the 50mg dose (65% versus 35%). 67.4% of the participants confirmed the availability of adrenal vein catheterization (AVC). 41% of this subgroup perform it with a continuous infusion versus 30.5% with an ACTH (1-24) bolus, whereas 70.3% employ sequential adrenal vein catheterization. 48% of the participants reported an AVC success <50%. Total laparoscopic adrenalectomy was the treatment of choice (90.6%), performed by specialists in General and Digestive Surgery specialising in endocrinological pathology. CONCLUSION: PA screening and diagnostic tests are extensively available to Spanish endocrinologists. However, there is a major variability in their use and in the cut-off points of the diagnostic methods. The AVS procedure remains poorly standardised and is far from delivering optimal performance. Greater standardisation in the study and diagnosis of PA is called for.


Assuntos
Hiperaldosteronismo , Hipertensão , Humanos , Aldosterona , Hiperaldosteronismo/diagnóstico , Hiperaldosteronismo/terapia , Renina , Hipertensão/diagnóstico , Hipertensão/etiologia , Inquéritos e Questionários
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