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1.
Ecotoxicol Environ Saf ; 281: 116614, 2024 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-38901168

RESUMO

A heavily impacted river basin (Caudal River, NW Spain) by Hg and Cu mining activities, abandoned decades ago, was used to evaluate the environmental quality of their river sediments. The obtained results compared with reference values established by the US EPA and the Canadian Council of Ministers of the Environment for river sediments, have shown that the main elements of environmental concern are arsenic (As), mercury (Hg) and, to a lesser extent, copper (Cu), which reach concentrations up to 1080, 80 and 54 mg kg-1, respectively. To understand the role that river sediments play in terms of risk to ecosystem health, a comparison has been made between the total content of metal(oid)s in the sediments and the bioavailable contents of the same elements in pore water, passive DGT (Diffusive Gradients in Thin films) samplers and the sediment extractant using acetic acid. A good correlation between the As and Cu contents in the DGTs and the pore water was found, resulting in a transfer from the pore water to the DGT of at least 47 % of the Cu and more than 75 % of the As when the concentrations were low, with a deployment time of 4 days. When As and Cu concentrations were higher, their transfer was not so high (above 23.6 % for As and 19.3 % for Cu). The transfer of Hg from the pore water to the DGT was practically nil and does not seem to depend on the content of this metal. The fraction extracted with acetic acid, conventionally accepted as bioavailable, was clearly lower than that captured by DGTs for As and Cu (≤5 % and ≤8.5 % of the total amount, respectively), while it was similar for Hg (0.2 %).

2.
Gastroenterol Hepatol ; : 502223, 2024 Jun 20.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-38908683

RESUMO

OBJECTIVES: To search for parameters susceptible to optimization when performing capsule endoscopy (CE) in a third level hospital with high volume and experience in this test. PATIENTS AND METHODS: Retrospective observational study, including 1325 CEs performed between 2017 and 2022. Overall diagnostic yield, effective diagnostic yield, by indication, place of request and waiting list, as well as complete examination rate and cleansing degree were analyzed. RESULTS: The overall diagnostic yield was 70.99%, while the effective diagnostic yield was 72.7%. Diagnostic yields varied between 60.2% and 77.9% depending on the indication and between 64.7% and 74.3% depending on the requesting center. The mean waiting list was 101.15 days, with a tendency to worse results when the waiting list was longer. A total of 77.8% of the examinations were complete. Completion rates were lower in patients >70 years of age (p=0.001), as well as in those with gastric transit >60 minutes (p=0.000). A total of 77.3% were clean, with debris that did not impede diagnosis being found in 16.9% and debris that did impede diagnosis in 5.8%. There was a relationship, although not significant, between cleansing degree and age. CONCLUSIONS: The diagnostic yields of CE in our center are in line with those previously reported. Differences were found according to the place of request. Waiting list could also influence diagnostic yield. Completion rates are lower in >70 years of age and when gastric transit is >60 minutes. Cleansing degree achieved is acceptable.

3.
Med Oral Patol Oral Cir Bucal ; 29(4): e458-e467, 2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38907642

RESUMO

BACKGROUND: Sutures have been the standard flap closure method of choice following mandibular third molar surgery but can lead to some complications. Tissue adhesives, including cyanoacrylate, have emerged as alternative flap closure method in this surgery to overcome such drawbacks. However, limited clinical trials can be found. Therefore, the aim of this clinical study was to compare two methods of flap closure in mandibular third molar surgery, cyanoacrylate and 4/0 silk sutures, by assessing post-operative outcome measures (pain, swelling, trismus, and healing) and patient-reported outcome measures (PROMs). MATERIAL AND METHODS: A randomized split-mouth clinical trial was designed, in which mandibular third molar (M3M) extractions were performed, where the control side flap was closed with 4/0 silk sutures and the test side flap with cyanoacrylate. Swelling, pain, trismus, healing, and PROMs were recorded post-operatively. These variables were analyzed by means of the nonparametric Mann-Whitney U test, using SPSS statistical software version 28.0.0 (IBM® SPSS®, Chicago, IL, USA). For all results, a 95% confidence interval was recorded (significance level p < 0.05, two-tailed). RESULTS: A total of 17 patients were recruited and 34 mandibular third molar extractions were performed. No statistically significant differences were found in terms of swelling, pain, trismus, healing, and PROMs between both groups (p<0.05). CONCLUSIONS: No statistically significant differences were found between flap closure with 4/0 silk sutures and cyanoacrylate, in terms of surgical post-operative outcomes and PROMs. However, further studies with larger sample sizes are required to be able to affirm it with greater certainty.


Assuntos
Cianoacrilatos , Mandíbula , Dente Serotino , Retalhos Cirúrgicos , Humanos , Dente Serotino/cirurgia , Masculino , Feminino , Adulto , Cianoacrilatos/uso terapêutico , Mandíbula/cirurgia , Adulto Jovem , Suturas , Extração Dentária , Técnicas de Sutura
4.
Mol Ecol ; 32(20): 5626-5644, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37712324

RESUMO

The Astyanax mexicanus complex includes two different morphs, a surface- and a cave-adapted ecotype, found at three mountain ranges in Northeastern Mexico: Sierra de El Abra, Sierra de Guatemala and Sierra de la Colmena (Micos). Since their discovery, multiple studies have attempted to characterize the timing and the number of events that gave rise to the evolution of these cave-adapted ecotypes. Here, using RADseq and genome-wide sequencing, we assessed the phylogenetic relationships, genetic structure and gene flow events between the cave and surface Astyanax mexicanus populations, to estimate the tempo and mode of evolution of the cave-adapted ecotypes. We also evaluated the body shape evolution across different cave lineages using geometric morphometrics to examine the role of phylogenetic signal versus environmental pressures. We found strong evidence of parallel evolution of cave-adapted ecotypes derived from two separate lineages of surface fish and hypothesize that there may be up to four independent invasions of caves from surface fish. Moreover, a strong congruence between the genetic structure and geographic distribution was observed across the cave populations, with the Sierra de Guatemala the region exhibiting most genetic drift among the cave populations analysed. Interestingly, we found no evidence of phylogenetic signal in body shape evolution, but we found support for parallel evolution in body shape across independent cave lineages, with cavefish from the Sierra de El Abra reflecting the most divergent morphology relative to surface and other cavefish populations.

5.
J Investig Allergol Clin Immunol ; 33(2): 102-108, 2023 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-35029155

RESUMO

BACKGROUND AND OBJECTIVE: The prevalence of hypersensitivity reactions to radiological contrast media (RCM) is increasing owing to the improved performance of diagnostic and therapeutic tests that require RCMs. Objective: We carried out a year-long real-life observational study to prospectively evaluate patients referred to the allergy department from primary care, the emergency department, and other specialties with suspected moderate-to-severe RCM hypersensitivity reactions. METHODS: To study the costs of evaluating RCM hypersensitivity reactions, we systematically recorded direct and indirect costs. RESULTS: Sixty-nine patients with previous reactions to RCM were evaluated in the allergy department from June 1, 2017, to May 31, 2018.Total direct health care costs were €10 715.84, with a mean (SD) cost per patient of €155.30 (77.08). Specifically, direct non-health care costs reached €1605.42 (mean, €23.27 [41.14]), and indirect costs were €6490.85 (mean, €94.07 [110.61]). In summary, the total cost was €18 812.11, that is, a mean cost of €272.64 (164.77). CONCLUSION: Our study shows that the costs of an elective evaluation of hypersensitivity reactions to RCM are low, thus confirming that correct and safe management of affected patients are cost-effective. Therefore, our efforts should be directed toward ensuring the necessary logistics.


Assuntos
Hipersensibilidade a Drogas , Hipersensibilidade , Humanos , Meios de Contraste/efeitos adversos , Hipersensibilidade a Drogas/diagnóstico , Hipersensibilidade a Drogas/epidemiologia , Estudos Prospectivos , Testes Cutâneos , Hipersensibilidade/diagnóstico , Hipersensibilidade/epidemiologia
6.
Nutr Metab Cardiovasc Dis ; 32(5): 1308-1316, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35282983

RESUMO

BACKGROUND AND AIM: Uric acid (UA) is a product of the catabolism of purines, and its increase in blood may be related to the development of cardiometabolic diseases. Whether UA is the result or causal determinant of the appearance of risk factors for cardiometabolic disease is not yet known. UA levels among the young student population in San Luis Potosi have increased in recent years, which may be indicative of a serious future public health concern. Therefore, the objective of this study was to evaluate the association of sociodemographic, lifestyle and cardiometabolic determinants with UA levels in children and adolescents in San Luis Potosí. METHODS AND RESULTS: A total of 730 students (54.1% female and 45.9% male, 6-19 years old) participated in the study. The subjects attended one of five public schools located in San Luis Potosí. Venous blood samples were collected, blood serum was separated by centrifugation, and UA concentrations were measured with an automated analytical platform. UA was associated with most of the independent variables studied. It presented a positive correlation with body mass index (r = 0.363, p < 0.01). Male sex, socioeconomic status, total screen time, exercise, adequate sleep, systolic blood pressure, total cholesterol, and high-density lipoprotein cholesterol explained 23%-39% (p < 0.001) of the variability of plasma concentrations of UA in children and adolescents. CONCLUSION: Early detection of these determinants will prevent future diseases. Moreover, it will help with the implementation of preventive strategies that could improve the health of this population.


Assuntos
Doenças Cardiovasculares , Ácido Úrico , Adolescente , Índice de Massa Corporal , Criança , HDL-Colesterol , Feminino , Humanos , Masculino , México/epidemiologia , Adulto Jovem
7.
J Endocrinol Invest ; 45(10): 1977-1990, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35718853

RESUMO

OBJECTIVES: Graves' disease induced by Alemtuzumab (GD-IA) is one of the most frequently observed adverse events in patients with multiple sclerosis (MS) treated with this drug. The aim of this study is the sequencing and description of these events, along with the identification of the risk factors leading to their development. MATERIALS AND METHODS: We conducted a retrospective observational study identifying patients with relapsing-remitting multiple sclerosis (RRMS) and GD-IA, studying their baseline clinical features and variables related to the natural history of the disease. RESULTS: A total of 121 participants treated with Alemtuzumab were included, of whom 41 developed GD-IA (33.9%). A higher percentage of first-degree relatives with autoimmune thyroid disease was documented in the subgroup who developed the abovementioned event (14.6% vs 1.5%; p < 0.01). A total of 70.7% of patients diagnosed with GD-IA (n = 29/41) had fluctuations in thyroid function during follow-up, and 24.4% (n = 10/41) required total thyroidectomy for resolution of the condition. In 54.8% of participants diagnosed with GD-IA, a pattern of significant TSH decline was identified in the month prior to diagnosis of the event, with high predictive ability and associated with a more favorable clinical course (fewer weeks to normalization of thyroid function, HR = 8.99; 95% CI [2.11-38.44]; p = 0.0003). CONCLUSION: GD-IA has an atypical course compared to classical forms of the disease. The identification of risk factors for the development of the disease before starting treatment with Alemtuzumab and early monitoring of thyroid function once this treatment is initiated prove to be useful strategies in the diagnosis and clinical management of this condition.


Assuntos
Doença de Graves , Esclerose Múltipla Recidivante-Remitente , Esclerose Múltipla , Alemtuzumab/efeitos adversos , Doença de Graves/induzido quimicamente , Doença de Graves/tratamento farmacológico , Humanos , Esclerose Múltipla/tratamento farmacológico , Esclerose Múltipla Recidivante-Remitente/tratamento farmacológico , Tireoidectomia
8.
Zygote ; 30(5): 719-729, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35730544

RESUMO

The Mexican tetra Astyanax mexicanus presents two contrasting morphs, a widely distributed surface morph and a cave-adapted morph. These cave-adapted morphs have evolved independently from two different lineages (i.e. 'old' and 'new' lineages); therefore, this model system gives a unique opportunity to explore parallel adaptive evolution in biological traits. The present study corresponds to the first morphological description of the Astyanax mexicanus maturation process of the spermatozoa and oocytes, using thermal and hormonal stimuli to promote spermatogenesis and oogenesis, considering surface and cave morphs from both lineages. We corroborate the relevance of thermal and hormonal stimuli to promote gamete maturation. The hormone Ovaprim (GnRHa + Domperidone) is an effective promoter of ovarian development, maturation end in oocytes and spawning in Astyanax mexicanus. The sperm morphology of Astyanax mexicanus includes the sperm head, the midpiece, and tail or flagellum. We found differences in the spermatozoan total length between environments (F = 9.929, P = 0.05) and linages (F = 49.86, P = 0.005). The oocytes showed a spherical conformation with a mean diameter of 822.4 ± 194.1 µm for the surface populations, and 604.6 ± 38.3 µm for the cave populations. The oocyte chorion presents ridges and grooves that are arranged radially towards the micropyle. A plug in the micropyle zone was observed after fertilization, confirmed by the outer membrane of the chorion, which provides some weak adhesiveness to the substrate. We observed differences in chorion thickness between the contrasting environmental conditions. This is the first morphological characterization of the Sótanos Vázquez, Escondido and Tigre, which previous to this study were only known from speleological expeditions, with no previous biological information available.


Assuntos
Characidae , Domperidona , Animais , Cavernas , Células Germinativas , Masculino , Sêmen
9.
Pediatr Surg Int ; 38(10): 1445-1451, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35852592

RESUMO

AIM: Ectopic breast tissue (EBT) includes a spectrum of disease that entails other entities based on the presence of glandular tissue, nipple, or areola. The diagnosis in adolescents is infrequent. METHODS: A retrospective study was performed including girls with axillary EBT (class IV or V of Kajava's Classification) operated in 2006-2020. Imagining studies, clinical and surgical reports, and histopathology were reviewed. RESULTS: Eleven girls from 13 to 16 years old were included. Two patients (18.2%) presented bilateral EBT. The most frequent clinical manifestation was 2-5 cm mass (100%), associating cyclic pain with menstruation (45%) and fluctuating volume (36%). Bilateral axillary ultrasonography allowed preoperative diagnosis. All of them were treated by open excision, through small incisions located in an axillary y fold. Clinical and aesthetic results were self-assessed as "very good", with normalization of the axillary y hollow and imperceptible scars. No recurrences were observed after one year of follow-up. An immediate postoperative hematoma was reported, which did not require drainage. Histopathology showed mature breast tissue without atypia. CONCLUSIONS: Axillary accessory breasts must be included in differential diagnosis of pediatric axillary masses. Bilateral ultrasonography is recommended for the preoperative diagnosis. Excision through minimal incision at this age seems to be safe and effective.


Assuntos
Neoplasias da Mama , Coristoma , Adolescente , Axila/patologia , Axila/cirurgia , Mama/diagnóstico por imagem , Mama/patologia , Mama/cirurgia , Criança , Coristoma/diagnóstico por imagem , Coristoma/cirurgia , Cicatriz , Feminino , Humanos , Mamilos/patologia , Mamilos/cirurgia , Estudos Retrospectivos
10.
Med Oral Patol Oral Cir Bucal ; 27(1): e1-e9, 2022 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-34874925

RESUMO

BACKGROUND: The professional Burnout Syndrome (BOS) or Burnout is considered a professional disease made up of three interrelated dimensions (emotional exhaustion, depersonalization and lack of personal fulfillment). BOS has been documented to most severely affect the healthcare professions, especially dentists. On the other hand, its appearance has been documented at an early age, during dental training. However, there are no studies that analyze its incidence in professionals dedicated to Oral Surgery and Implantology, determining the age of onset and related factors. MATERIAL AND METHODS: The modified Maslach questionnaire was carried out anonymously among the professors and students of the Master of Oral Surgery and Implantology at the Complutense University of Madrid. A total of 36 participants were enrolled in this study and the results of the modified Maslach Questionnaire were established into four groups [1st year (n=6), 2nd year (n=6), 3rd year (n=6) postgraduate students and clinical teachers (n=18)]. The following variables were recorded: Age, sex, years of experience, weekly hours of work, dedication on weekends and scope of work. The statistical analysis performed included Pearson's correlation, analysis of variance, Student's t-test, F-Anova, Chi-Square and Gamma correlation. Statistical Significance of the tests was established of p≤0.05. RESULTS: 36 questionnaires were analyzed, of which 22.2% (n = 8) presented BOS, and 77.8% (n = 28) a medium risk of suffering it. The mean values and standard deviation ​​of emotional exhaustion (7.50 ± 2.43; 9.83 ± 4.12; 15.83 ± 6.21; 30.22 ± 7.86), depersonalization (5.50 ± 1.23; 50 ± 3.27; 11.33 ± 1.75; 17.56 ± 4.13), low personal fulfillment (39.67 ± 3.72; 39.33 ± 2.34; 43.17 ± 3, 55; 37.33 ± 5.51) and professional burnout (54.33 ± 2.66; 61.67 ± 2.88; 70.33 ± 5.43; 85.11 ± 9.05) in the four groups respectively. A significant association was found in the appearance of emotional exhaustion and depersonalization, years of experience, weekly work hours and the work environment. CONCLUSIONS: BOS is a disease that can appear from 30 years of age, after 5 years of professional experience and when there is a clinical consultation of 40 hours a week. Oral Surgery and Implantology seems to be a risk activity for the manifestation of depersonalization.


Assuntos
Esgotamento Profissional , Procedimentos Cirúrgicos Bucais , Esgotamento Profissional/epidemiologia , Pré-Escolar , Consultores , Humanos , Projetos Piloto , Inquéritos e Questionários
11.
Int Tinnitus J ; 25(2): 143-148, 2022 Mar 03.
Artigo em Inglês | MEDLINE | ID: mdl-35239297

RESUMO

OBJECTIVE: To establish a functional connection between neck physical evaluations, dizziness discomfort and image findings among subjects diagnosed with proprioceptive cervical dizziness. METHODS: After exclusion of peripheral vestibular disorders, 20 subjects with proprioceptive cervical dizziness hypothesis were selected. A Visual Analogue Scale (VAS) was used to quantify pain and vertigo. The active neck Range of Motion (ROM) and the Muscle Strength (MS) of the neck region were examined. The manipulation of vertebral bodies by the Maitland method and imaging scan were performed. RESULTS: A positive correlation between pain and vertigo VAS scores was found. The ROM of the cervical spine was limited and vertebral joint movement was restricted, especially at C3 and C5. No loss of MS was noticed. CONCLUSIONS: Proprioceptive cervical dizziness is usually an exclusion diagnosis among episodic chronic vertigos. Characteristically, it is reported by patients as instability or vertigo in crises. It is directly related to the neck ache severity and worsens with neck movements. The common pattern on clinical examination includes restriction and pain during neck flexion without loss of MS. Reduction of joint mobility and pain are also observed, especially at C3 and C54 kHz.


Assuntos
Tontura , Pescoço , Vertigem , Vértebras Cervicais/fisiopatologia , Tontura/diagnóstico , Tontura/etiologia , Humanos , Pescoço/fisiopatologia , Cervicalgia/complicações , Cervicalgia/fisiopatologia , Amplitude de Movimento Articular/fisiologia , Vertigem/diagnóstico , Vertigem/etiologia
12.
Aust Crit Care ; 35(3): 302-308, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-34419341

RESUMO

BACKGROUND: Acute respiratory failure (ARF) has become one of the most prevalent serious pathologies encountered in the emergency medical service (EMS). In hospital settings, noninvasive ventilation (NIV) therapy prevents complications from more aggressive treatments for that condition. However, the scarce evidence on the benefits of NIV in prehospital EMS (i.e., during transport to the hospital) is inconclusive. OBJECTIVES: To determine whether the administration of NIV during prehospital EMS in cases of ARF reduces in-hospital mortality compared with starting NIV on arrival to in-patient EMS. METHODS: This is a multicentre, observational, prospective cohort study. We recruited a total of 317 patients from the Madrid region (Spain) who were prescribed NIV for their ARF using a nonprobabilistic consecutive sampling method. Analyses of the main outcome (in-hospital mortality) and secondary outcomes (length of hospital stay, readmissions, percentage of intensive care unit admissions, and cost-effectiveness) will include descriptive analyses of patients' characteristics, as well as bivariate and multivariate analyses and cost-effectiveness analysis. DISCUSSION: This study will provide data on NIV management in prehospital and in-patient EMS in patients with ARF. Results will contribute to the existing evidence on the benefits of NIV in the context of prehospital EMS while underlining the importance of a standardized formal training for physicians and nurses working in prehospital and in-patient EMSs. CONCLUSION: The VentilaMadrid study will provide valuable data on the clinical factors of patients receiving NIV in prehospital EMS. Further, were our hypothesis to be confirmed, our results would strongly suggest that the administration of NIV in prehospital EMS by medical and nursing profesionals formally trained in the technique reduces mortality and improves prognoses.


Assuntos
Serviços Médicos de Emergência , Ventilação não Invasiva , Síndrome do Desconforto Respiratório , Estudos de Coortes , Serviços Médicos de Emergência/métodos , Humanos , Estudos Multicêntricos como Assunto , Ventilação não Invasiva/métodos , Estudos Observacionais como Assunto , Estudos Prospectivos , Espanha
13.
Rev Clin Esp ; 222(5): 288-292, 2022 May.
Artigo em Espanhol | MEDLINE | ID: mdl-33495654

RESUMO

Background and objective: This study aims to describe the characteristics of patients with COVID-19 in a state in northern Mexico and establish the comorbidities associated with mortality. Methods: Patients with COVID-19, divided into survivors and non-survivors, were analyzed. The data were analyzed using the chi-square test, Student's t-test, and Cox's regression model. Results: A total of 17,479 patients were included and mortality rate of 6.3% was reported. Age over 60 years (HR = 8.04; 95% CI 7.03-9.19), diabetes (HR = 1.63; 95% CI 1.40-1.89), high blood pressure (HR = 1.48; 95% CI 1.28-1.72), obesity (HR = 1.37; 95% CI 1.18-1.60) and chronic kidney disease (HR = 2.06; 95% CI 1.64-2.59) were significantly associated with mortality. Conclusions: Diabetes, high blood pressure, obesity, and chronic kidney disease increased mortality among patients with COVID-19 in the population of Coahuila, Mexico. The factor that most contributed to risk of death was age over 60 years.

14.
Rev Clin Esp ; 222(1): 1-12, 2022 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-34176952

RESUMO

BACKGROUND: This work aims to identify and validate a risk scale for admission to intensive care units (ICU) in hospitalized patients with coronavirus disease 2019 (COVID-19). METHODS: We created a derivation rule and a validation rule for ICU admission using data from a national registry of a cohort of patients with confirmed SARS-CoV-2 infection who were admitted between March and August 2020 (n = 16,298). We analyzed the available demographic, clinical, radiological, and laboratory variables recorded at hospital admission. We evaluated the performance of the risk score by estimating the area under the receiver operating characteristic curve (AUROC). Using the ß coefficients of the regression model, we developed a score (0 to 100 points) associated with ICU admission. RESULTS: The mean age of the patients was 67 years; 57% were men. A total of 1,420 (8.7%) patients were admitted to the ICU. The variables independently associated with ICU admission were age, dyspnea, Charlson Comorbidity Index score, neutrophil-to-lymphocyte ratio, lactate dehydrogenase levels, and presence of diffuse infiltrates on a chest X-ray. The model showed an AUROC of 0.780 (CI: 0.763-0.797) in the derivation cohort and an AUROC of 0.734 (CI: 0.708-0.761) in the validation cohort. A score of greater than 75 points was associated with a more than 30% probability of ICU admission while a score of less than 50 points reduced the likelihood of ICU admission to 15%. CONCLUSION: A simple prediction score was a useful tool for forecasting the probability of ICU admission with a high degree of precision.

15.
Osteoporos Int ; 32(9): 1825-1836, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33666701

RESUMO

We report the most comprehensive clinical and molecular characterization of XLH patients performed in Chile. We show high prevalence of musculoskeletal burden and pain, associated with significantly impaired physical capacity and quality of life, with many relevant complications presenting more frequently than previously reported in cohorts from developed countries. INTRODUCTION: Our current understanding of the clinical presentation and natural history of X-linked hypophosphatemia (XLH) comes mainly from cohorts from developed countries, with limited data on the clinical and genetic abnormalities of XLH patients in South America. OBJECTIVE: To describe the clinical, biochemical, and molecular presentation of patients with XLH in Chile. METHODS: Patients with XLH referred by endocrinologist throughout Chile were included. Demographic data and clinical presentation were obtained from a clinical interview. Surveys were applied for quality of life (QoL), pain, and functionality. FGF23 was measured by ELISA, and genetic testing was performed. Imaging studies were conducted to assess skeletal and renal involvement. RESULTS: We included 26 patients, aged 2-64 years, from 17 unrelated Chilean families. All pediatric patients but only 40% of adults were receiving conventional therapy, while 65% of all patients had elevated alkaline phosphatase. All patients had mutations in PHEX, including 5 novel variants. Radiographic skeletal events (RSE) and enthesopathies in adults were frequent (34% and 85%, respectively). The duration of treatment was associated with fewer RSE (p < 0.05). Most adults reported pain and impaired QoL, and 50% had impaired physical capacity. The number of enthesopathies was associated with worse pain and stiffness scores (p < 0.05). CONCLUSION: Chilean patients with XLH have a high prevalence of musculoskeletal burden associated with pain and impaired physical capacity and QoL, especially in adults who were generally undertreated. These data identify a significant unmet need, inform our understanding of the current status of patients, and can guide care for XLH patients in similarly socioeconomically defined countries.


Assuntos
Raquitismo Hipofosfatêmico Familiar , Qualidade de Vida , Adulto , Criança , Chile/epidemiologia , Raquitismo Hipofosfatêmico Familiar/epidemiologia , Raquitismo Hipofosfatêmico Familiar/genética , Fator de Crescimento de Fibroblastos 23 , Testes Genéticos , Humanos , Mutação
16.
J Investig Allergol Clin Immunol ; 31(1): 52-57, 2021 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-31599727

RESUMO

BACKGROUND AND OBJECTIVE: Being labeled as allergic to penicillin (unverified ß-lactam allergy) can result in patients receiving broader-spectrum antibiotics than necessary that may be more toxic, less effective, and/or more expensive than alternative options. Objective: We aimed to evaluate the real costs of evaluating ß-lactam allergy. METHODS: We performed a prospective real-life observational study designed to evaluate all adult patients who consulted for suspected ß-lactam allergy over a 1-year period. Direct and indirect costs were systematically recorded. Direct health costs were calculated based on the number of visits and all additional and diagnostic tests performed, direct nonhealth costs based on the number of visits and the distance from their homes to the Allergy Department, and indirect costs based on absenteeism. RESULTS: A total of 296 patients with suspected allergy to ß-lactams were evaluated in our outpatient clinic from June 1, 2017 to May 31, 2018. Total direct health care costs were €28 176.70, with a mean (SD) cost of €95.19 (37.20). Direct nonhealth costs reached €6551.73, that is, €22.13 (40.44) per patient. Indirect health costs reached €20 769.20, with a mean of €70.17 (127.40). In summary, the total cost was €55 497.63, that is, a cost per patient of €187.49 (148.14). CONCLUSIONS: When all possible costs are taken into account, the evaluation of ß-lactam allergy is not expensive and can reduce future expense arising from unnecessary use of more expensive and less effective antibiotics.


Assuntos
Alérgenos/imunologia , Hipersensibilidade a Drogas/economia , beta-Lactamas/imunologia , Adulto , Idoso , Custos e Análise de Custo , Farmacoeconomia , Feminino , Custos de Cuidados de Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
17.
Subcell Biochem ; 94: 219-231, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32189301

RESUMO

Hemocyanin (Hc), a copper-containing extracellular multimeric protein, is the major protein component of hemolymph in different arachnid groups. Hc possesses 7 or 8 very well-characterized types of monomers with molecular weights ranging from 70 to 85 kDa, organized in hexamers or multiple of hexamers. The present chapter compiles the existing data with relation to the function of this protein in the arachnids. Hc has as main function the reversible transport of O2, but it shows many secondary though not less important functions. With reference to this, it has been described that Hc can transport hydrophobic molecules (lipid-derived hormones and lipids) to the different organs, having a key role in the lipid transport system. In arachnids, like in other arthropods and invertebrates, Hc has phenoloxidase function which is related to different metabolic processes such as melanin formation and defense against pathogens. In addition, Hc has additional defensive functions since it can serve as precursor for the production of antimicrobial peptides. In short, the evolution of this protein has led to the development of multiple functions essential for organisms possessing this protein.


Assuntos
Aracnídeos , Hemocianinas , Animais , Aracnídeos/enzimologia , Aracnídeos/metabolismo , Hemocianinas/metabolismo , Monofenol Mono-Oxigenase/metabolismo
18.
J Assist Reprod Genet ; 38(6): 1589-1600, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33786735

RESUMO

PURPOSE: Cryopreserved ovarian tissue transplant restores ovarian function in young cancer patients after gonadotoxic treatment. However, leukemia is associated with increased risk of malignant cell transmission. We aimed to assess the tumor-inducing potential of two different leukemic cell lines when xenografted to immunodeficient mice. METHODS: Fifty-four female immunodeficient mice were grafted with either 100, 200, 500, 1000, and 10,000 chronic myeloid leukemia in blast crisis (BV-173) cells or relapsed acute lymphoblastic leukemia (RCH-ACV) cells, embedded inside a fibrin scaffold along with 50,000 human ovarian stromal cells. Two mice per cell line received the fibrin matrix without leukemic cells as negative controls. Clinical signs of disease were monitored for 20 weeks. Grafts, liver tissue, and masses were collected for macroscopic analysis and gene expression of BCR-ABL1 and E2A-PBX fusion transcripts present in BV-173 and RCH-ACV respectively. RESULTS: BV-173 cells: Mice grafted with 100, 200, or 500 cells showed no sign of disease after and were negative for BCR-ABL1 expression. Three of the 5 animals grafted with 1000 cells and all mice with 10,000 cells developed disease and showed BCR-ABL1-positive expression. RCH-ACV cells: Two out of 4 mice grafted with 100 cells developed disease and were E2A-PBX1-positive. All the animals grafted with higher cell doses showed signs of disease and all but one were E2A-PBX1-positive. CONCLUSION: The present work proves that the disease-inducing potential of BV-173 and RCH-ACV leukemic cells xenografted to SCID mouse peritoneum differs between cell lines, depending on cell number, type, status, and cytogenetic disease profile when ovarian tissue is harvested.


Assuntos
Leucemia Mielogênica Crônica BCR-ABL Positiva/terapia , Folículo Ovariano/transplante , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , Transplante Heterólogo , Animais , Linhagem Celular Tumoral , Criopreservação , Modelos Animais de Doenças , Feminino , Preservação da Fertilidade/métodos , Proteínas de Fusão bcr-abl/genética , Regulação Neoplásica da Expressão Gênica/genética , Xenoenxertos , Proteínas de Homeodomínio/genética , Humanos , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Leucemia Mielogênica Crônica BCR-ABL Positiva/patologia , Camundongos , Proteínas de Fusão Oncogênica/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Translocação Genética/genética , Transplantes/crescimento & desenvolvimento , Transplantes/metabolismo
19.
J Therm Biol ; 96: 102841, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33627278

RESUMO

Different organisms (mainly poikilotherms) are subject to environmental fluctuations that could affect their normal physiological functioning (e.g., by destabilization of biomembranes and rupture of biomolecules). As a result, animals regulate their body temperature and adapt to different environmental conditions through various physiological strategies. These adaptations are crucial in all organisms, although they are more relevant in those that have reached a great adaptive diversity such as scorpions. Within scorpions, the genus Urophonius presents species with winter activity, being this a peculiarity within the Order and an opportunity to study the strategies deployed by these organisms when facing different temperatures. Here, we explore three basic issues of lipid remodeling under high and low temperatures, using adults and juveniles of Urophonius achalensis and U. brachycentrus. First, as an indicator of metabolic state, we analyzed the lipidic changes in different tissues observing that low temperatures generate higher quantities of triacylglycerols and fewer amount of structural lipids and sphyngomielin. Furthermore, we studied the participation of fatty acids in adaptive homeoviscosity, showing that there are changes in the quantity of saturated and unsaturated fatty acids at low temperature (mainly 16:0, 18:0, 18:1 and 18:2). Finally, we observe that there are quantitative and qualitative variations in the cuticular hydrocarbons (with possible water barrier and chemical recognition function). These fluctuations are in some cases species-specific, metabolic-specific, tissue-specific and in others depend on the ontogenetic state.


Assuntos
Aclimatação , Temperatura Baixa , Escorpiões/metabolismo , Animais , Ácidos Graxos/metabolismo , Feminino , Hepatopâncreas/metabolismo , Hidrocarbonetos/metabolismo , Metabolismo dos Lipídeos , Músculos/metabolismo , Especificidade da Espécie
20.
Br J Surg ; 107(8): 978-994, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32372474

RESUMO

BACKGROUND: Smoking at the time of surgery is associated with postoperative complications. Quitting smoking before surgery is linked to fewer complications during the hospital stay. This work analysed whether a smoking cessation intervention before surgery is economically worthwhile when funded by the National Health System (NHS) in Spain. METHODS: The economic analysis considered costs and benefits of the intervention to the NHS for the year 2016. The population who would benefit comprised adult smokers who were ready to quit and for whom surgery requiring admission to hospital was planned. The intervention, a combination of medical counselling and use of a smoking cessation drug which should occur 12 weeks before surgery, considered one attempt only to quit smoking. Benefits were costs avoided by averting postoperative complications if cessation was successful. The analysis compared the net economic outcome (benefit minus cost of intervention) and the return on investment, for intervention funded by the NHS versus the current situation without funding. RESULTS: Smoking cessation increased by 21·7 per cent with funding; the rate was 32·5 per cent when funded versus 10·7 per cent without funding, producing 9611 extra quitters. The cost per averted smoker was €1753 with a benefit of €503, achieving a net economic benefit of €4·8 million per year. Given the annual cost of the intervention (€17·4 million, of which €5·6 million (32·5 per cent) represents drugs), the return on investment was 28·7 per cent annually, equivalent to €1·29 per €1 of investment. CONCLUSION: From the perspective of the Spanish NHS, the benefit of funding smoking cessation before surgery, in terms of healthcare cost savings, appears to greatly outweigh the costs.


ANTECEDENTES: Ser fumador activo hasta el momento de la cirugía se asocia con complicaciones postoperatorias. Se ha descrito una disminución de las complicaciones durante la hospitalización al abandonar el hábito de fumar antes de la cirugía. Este trabajo analizó si una intervención preoperatoria para dejar de fumar es económicamente beneficiosa cuando se financia por el Sistema Nacional de Salud (SNS) en España. MÉTODOS: En el análisis económico se consideraron tantos los costes como los beneficios de la intervención para el SNS, en euros, correspondientes al año 2016. La población que se beneficiaría eran fumadores adultos dispuestos a dejar de fumar, en los que se programase una intervención quirúrgica con hospitalización. La intervención, una combinación de asesoramiento médico y tratamiento farmacológico para dejar de fumar, se llevó a cabo a las 12 semanas antes de la cirugía, considerando únicamente un intento para dejar de fumar. Los beneficios fueron los costes evitados por una reducción en la tasa de complicaciones postoperatorias en los casos en los que se hubiese conseguido la eliminación del hábito. El análisis comparó el resultado económico neto (beneficio menos coste de la intervención) y el retorno de la inversión (return on investment, ROI), cuando la intervención era financiada por el SNS en comparación con la situación actual sin financiamiento público. RESULTADOS: La tasa de abandono del hábito tabáquico aumentó en un 21,8%; 32,5% cuando se financiaba frente al 10,7% sin financiación, consiguiendo un extra de 9.611 personas que dejaron de fumar. El coste por fumador rescatado fue de €1753 con un beneficio de €503, por lo que el beneficio económico neto conseguido fue de €4,8 millones por año. Dado que el coste anual de la intervención (€17,4 millones, de los cuales €5,6 millones corresponden a fármacos (32%)), el ROI anual fue del 28,7% con un beneficio de €1,29 por cada €1 de inversión. CONCLUSIÓN: Desde la perspectiva del SNS español, los beneficios de financiar el abandono del hábito de fumar en el preoperatorio de los pacientes, en términos de ahorro de costes parecen ser muy superiores a los costes de la intervención.


Assuntos
Análise Custo-Benefício , Custos de Cuidados de Saúde/estatística & dados numéricos , Complicações Pós-Operatórias/prevenção & controle , Cuidados Pré-Operatórios/economia , Abandono do Hábito de Fumar/economia , Fumar/terapia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/economia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Cuidados Pré-Operatórios/métodos , Fumar/efeitos adversos , Fumar/economia , Abandono do Hábito de Fumar/métodos , Abandono do Hábito de Fumar/estatística & dados numéricos , Espanha , Resultado do Tratamento , Adulto Jovem
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