17 results on '"Faria AG"'
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2. The Impact of Phytase and Different Levels of Supplemental Amino Acid Complexed Minerals in Diets of Older Laying Hens.
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Medeiros-Ventura WRL, Rabello CBV, Santos MJB, Barros MR, Silva Junior RV, Oliveira HB, Costa FS, Faria AG, and Fireman AK
- Abstract
A study was conducted to evaluate the effects of different sources and levels of supplemental amino acid-complexed minerals (AACM), with and without enzyme phytase (EZ). A total of 512 Dekalb White laying hens at 67 weeks of age were used in a 2 × 3 + 2 factorial arrangement of 8 treatments and 8 replications each. The main effects included EZ supplementation (600 FTU kg
-1 ) and AACM inclusion level (100%, 70%, and 40% of inorganic mineral recommendations), plus two control treatments. The group of hens fed AACM-100 showed lower feed intake than the inorganic mineral (IM) group. The diet containing AACM-EZ-70 provided a higher ( p < 0.05) laying percentage and a lower ( p < 0.05) feed conversion ratio than both the IM and IM-EZ diets. The groups fed AACM-EZ-40, AACM-EZ-100, and AACM-70 produced heavier yolks ( p < 0.05). Hens fed IM laid eggs with the lowest yolk and albumen weights ( p < 0.05). Layers fed with AACM-100 and AACM-70 produced the most resistant eggshells to breakage ( p < 0.05). In diets containing phytase, the optimal AACM recommendations for better performance and egg quality in older laying hens are: 42, 49, 5.6, 28, 0.175, and 0.70 mg kg-1 for Zn, Mn, Cu, Fe, Se, and I, respectively.- Published
- 2023
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3. Clinical and Genetic Characterization of Familial Central Precocious Puberty.
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Tinano FR, Canton APM, Montenegro LR, de Castro Leal A, Faria AG, Seraphim CE, Brauner R, Jorge AA, Mendonca BB, Argente J, Brito VN, and Latronico AC
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- Male, Child, Humans, Retrospective Studies, Mutation, Fathers, Inheritance Patterns, Ubiquitin-Protein Ligases genetics, Puberty, Puberty, Precocious drug therapy, Puberty, Precocious epidemiology, Puberty, Precocious genetics
- Abstract
Context: Central precocious puberty (CPP) can have a familial form in approximately one-quarter of the children. The recognition of this inherited condition increased after the identification of autosomal dominant CPP with paternal transmission caused by mutations in the MKRN3 and DLK1 genes., Objective: We aimed to characterize the inheritance and estimate the prevalence of familial CPP in a large multiethnic cohort; to compare clinical and hormonal features, as well as treatment response to GnRH analogs (GnRHa), in children with distinct modes of transmission; and to investigate the genetic basis of familial CPP., Methods: We retrospectively studied 586 children with a diagnosis of CPP. Patients with familial CPP (n = 276) were selected for clinical and genetic analysis. Data from previous studies were grouped, encompassing sequencing of MKRN3 and DLK1 genes in 204 patients. Large-scale parallel sequencing was performed in 48 individuals from 34 families., Results: The prevalence of familial CPP was estimated at 22%, with a similar frequency of maternal and paternal transmission. Pedigree analyses of families with maternal transmission suggested an autosomal dominant inheritance. Clinical and hormonal features, as well as treatment response to GnRHa, were similar among patients with different forms of transmission of familial CPP. MKRN3 loss-of-function mutations were the most prevalent cause of familial CPP, followed by DLK1 loss-of-function mutations, affecting, respectively, 22% and 4% of the studied families; both affected exclusively families with paternal transmission. Rare variants of uncertain significance were identified in CPP families with maternal transmission., Conclusion: We demonstrated a similar prevalence of familial CPP with maternal and paternal transmission. MKRN3 and DLK1 loss-of-function mutations were the major causes of familial CPP with paternal transmission., (© The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)
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- 2023
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4. Opioids in COVID-19: Two Sides of a Coin.
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Palamim CVC, Boschiero MN, Faria AG, Valencise FE, and Marson FAL
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Introduction: The treatment of most severe COVID-19 patients included the large-scale use of sedatives and analgesics-possibly in higher doses than usual-which was reported in the literature. The use of drugs that decrease mortality is necessary and opioids are important agents in procedures such as orotracheal intubation. However, these drugs seem to have been overestimated in the COVID-19 pandemic. We performed a review of the PubMed-Medline database to evaluate the use of opioids during this period. The following descriptors were used to enhance the search for papers: "Opioids", "COVID-19," "COVID-19 pandemic," "SARS-CoV-2," "Opioid use disorder," "Opioid dependence" and the names of the drugs used. We also evaluated the distribution of COVID-19 patients in Brazil and the applicability of opioids in our country during the COVID-19 pandemic. Results: Several positive points were found in the use of opioids in the COVID-19 pandemic, for instance, they can be used for analgesia in orotracheal intubation, for chronic pain management, and as coadjutant in the management of acute intensification of pain. However, high doses of opioids might exacerbate the respiratory depression found in COVID-19 patients, their chronic use can trigger opioid tolerance and the higher doses used during the pandemic might result in greater adverse effects. Unfortunately, the pandemic also affected individuals with opioid use disorder, not only those individuals are at higher risk of mortality, hospitalization and need for ventilatory support, but measures taken to decrease the SARS-CoV-2 spread such as social isolation, might negatively affect the treatment for opioid use disorder. In Brazil, only morphine, remifentanil and fentanyl are available in the basic health care system for the treatment of COVID-19 patients. Out of the 5,273,598 opioid units used in this period all over the country, morphine, fentanyl, and remifentanil, accounted for, respectively, 559,270 (10.6%), 4,624,328 (87.6%), and 90,000 (1.8%) units. Many Brazilian regions with high number of confirmed cases of COVID-19 had few units of opioids available, as the Southeast region, with a 0.23 units of opioids per confirmed COVID-19 case, and the South region, with 0.05 units. In the COVID-19 pandemic scenario, positive points related to opioids were mainly the occurrence of analgesia, to facilitate intubation and their use as coadjutants in the management of acute intensification of pain, whereas the negative points were indiscriminate use, the presence of human immunosuppressor response and increased adverse effects due to higher doses of the drug. Conclusion: The importance of rational and individualized use of analgesic hypnotics and sedative anesthetics should be considered at all times, especially in situations of high demand such as the COVID-19 pandemic., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Palamim, Boschiero, Faria, Valencise and Marson.)
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- 2022
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5. Teaming-up nurses with ophthalmologists to expand the reach of eye care in a middle-income country: Validation of health data acquisition by nursing staff in a telemedicine strategy.
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Garcia Moraes Pagano C, de Campos Moreira T, Sganzerla D, Matzenbacher AMF, Faria AG, Matturro L, Cabral FC, Rucks Varvaki Rados D, Decavata Szortyka A, Falavigna M, Vinadé Chagas ME, Harzheim E, Gonçalves M, Umpierre R, and Lutz de Araujo A
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- Adult, Aged, Female, Humans, Male, Middle Aged, Ophthalmology, Primary Health Care, Eye Diseases diagnosis, Intraocular Pressure, Nursing Staff, Ophthalmologists, Telemedicine, Tonometry, Ocular
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Telemedicine can be used to conduct ophthalmological assessment of patients, facilitating patient access to specialist care. Since the teleophthalmology models require data collection support from other health professionals, the purpose of our study was to assess agreement between the nursing technician and the ophthalmologist in acquisition of health parameters that can be used for remote analysis as part of a telemedicine strategy. A cross-sectional study was conducted with 140 patients referred to an ophthalmological telediagnosis center by primary healthcare doctors. The health parameters evaluated were visual acuity (VA), objective ophthalmic measures acquired by autorefraction, keratometry, and intraocular pressure (IOP). Bland-Altman plots were used to analyze agreement between the nursing technician and the ophthalmologist. The Bland-Altman analysis showed a mean bias equal to zero for the VA measurements [95%-LoA: -0.25-0.25], 0.01 [95%-LoA: -0.86-0.88] for spherical equivalent (M), -0.08 [95%-LoA: -1.1-0.95] for keratometry (K) and -0.23 [95%-LoA: -4.4-4.00] for IOP. The measures had a high linear correlation (R [95%CI]: 0.87 [0.82-0.91]; 0.97 [0.96-0.98]; 0.96 [0.95-0.97] and 0.88 [0.84-0.91] respectively). The results observed demonstrate that remote ophthalmological data collection by adequately trained health professionals is viable. This confirms the utility and safety of these solutions for scenarios in which access to ophthalmologists is limited., Competing Interests: The authors have declared that no competing interests exist.
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- 2021
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6. Anthropometric, metabolic, and reproductive outcomes of patients with central precocious puberty treated with leuprorelin acetate 3-month depot (11.25 mg).
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Ramos CO, Canton APM, Seraphim CE, Faria AG, Tinano FR, Mendonca BB, Latronico AC, and Brito VN
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- Child, Female, Humans, Leuprolide administration & dosage, Puberty, Precocious mortality, Retrospective Studies, Treatment Outcome, Body Height drug effects, Gonadotropin-Releasing Hormone analogs & derivatives, Leuprolide therapeutic use, Menarche drug effects, Puberty, Precocious drug therapy, Reproduction drug effects
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Objectives: Longer-acting gonadotropin-releasing hormone analogs (GnRHa) have been widely used for central precocious puberty (CPP) treatment. However, the follow-up of patients after this treatment are still scarce. Our aim was to describe anthropometric, metabolic, and reproductive follow-up of CPP patients after treatment with leuprorelin acetate 3-month depot (11.25 mg)., Methods: Twenty-two female patients with idiopathic CPP were treated with leuprorelin acetate 3-month depot (11.25 mg). Their medical records were retrospectively evaluated regarding clinical, hormonal, and imaging aspects before, during, and after GnRHa treatment until adult height (AH)., Results: At the diagnosis of CPP, the mean chronological age (CA) was 8.2 ± 1.13 year, and mean bone age (BA) was 10.4 ± 1.4 year. Mean height SDS at the start and the end of GnRHa treatment was 1.6 ± 0.8 and 1.3 ± 0.9, respectively. The mean duration of GnRHa treatment was 2.8 ± 0.8 year. Mean predicted adult heights (PAH) at the start and the end of GnRH treatment was 153.2 ± 8.6 and 164.4 ± 7.3 cm, respectively (p<0.05). The mean AH was 163.2 ± 6.2 cm (mean SDS: 0.1 ± 1). All patients were within their target height (TH) range. There was a decrease in the percentage of overweight and obesity from the diagnosis until AH (39-19% p>0.05). At the AH, the insulin resistance and high LDL levels were identified in 3/17 patients (17.6%) and 2/21 patients (9.5%), respectively. The mean CA of menarche was 12.2 ± 0.5 years. At the AH, PCOS was diagnosed in one patient (4.8%)., Conclusions: Long-term anthropometric, metabolic, and reproductive follow-up of patients with CPP treated with longer-acting GnRHa revealed effectivity, safety, and favorable outcomes., (© 2021 Walter de Gruyter GmbH, Berlin/Boston.)
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- 2021
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7. Zinc, manganese and copper amino acid complexed in laying hens' diets affect performance, blood parameters and reproductive organs development.
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Pereira CG, Rabello CB, Barros MR, Manso HECCC, Santos MJBD, Faria AG, Oliveira HB, Medeiros-Ventura WRL, Silva Júnior RV, Carvalho CCD, and Fireman AK
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- Animals, Body Weight, Chickens blood, Chickens physiology, Dietary Supplements, Female, Organ Size, Oviposition, Animal Feed analysis, Chickens growth & development, Copper administration & dosage, Manganese administration & dosage, Zinc administration & dosage
- Abstract
In the intestinal lumen, excess of oxides and sulfates interfere with the absorption of minerals due to competition from the same absorption site. Amino acids-mineral complexed (AACM) is intended to minimize these problems, which might be absorbed by different absorption sites. Then, a study including Zinc (Zn), Manganese (Mn) and Copper (Cu) from different sources was carried out to evaluate the performance, blood parameters and reproductive organs development of Brown Laying Hens. A total of 800 Lohmann Brown Lite were fed, from one-day-old to 182-days-old, Zn, Mn and Cu from different sources. Measurements were made from 105 to 182-days-old. The laying hens were distributed according to a completely randomized design with 20 replicates and 20 birds per experimental unit. The treatments consisted of a diet supplemented with 70, 70 and 8 mg/kg of Zn, Mn and Cu; respectively, from inorganic sources (IM). The second treatment contained 40, 40 and 2.75 mg/kg of Zn, Mn and Cu, respectively from IM plus 30, 30 and 5.25 mg/kg of Zn, Mn and Cu; respectively, from AACM sources. Performance and reproductive organs development (oviduct and ovary weight), tibia weight, liver weight, egg output and body weight, and blood variables were evaluated. Data were compared by Student's t-test (P < 0.05). Laying hens fed AACM reached 35% of egg output two days earlier and presented heavier tibia bone than the IM group. Those hens also presented greater oviduct weight, greater hematocrit and greater serum concentration of total leukocytes, erythrocytes, eosinophils, monocytes and the hormones T4 and FSH, than the hens fed IM. The supplementation of AACM in laying hens' diets since one-day-old improves the productive performance from the beginning of egg output to peak production, which is justified by better development of bones and oviduct, hormone production and immune system support., Competing Interests: The authors have declared that no competing interests exist.
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- 2020
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8. Zinc, manganese, and copper amino acid complexes improve performance and bone characteristics of layer-type chicks under thermoneutral and cold stress conditions.
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Medeiros-Ventura WRL, Rabello CBV, Barros MR, Silva Junior RV, Oliveira HB, Faria AG, Silva AF, Soares PC, Pereira CG, Santos MJB, and Fireman AK
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- Animal Feed analysis, Animals, Copper chemistry, Copper pharmacology, Diet veterinary, Manganese chemistry, Manganese pharmacology, Zinc chemistry, Zinc pharmacology, Amino Acids chemistry, Amino Acids pharmacology, Animal Nutritional Physiological Phenomena, Bone and Bones drug effects, Chickens physiology, Cold-Shock Response drug effects, Dietary Supplements, Metals, Heavy chemistry, Metals, Heavy pharmacology
- Abstract
Two experiments were designed to evaluate the effect of mineral-amino acid complexes (AACM) as a partial replacement of inorganic mineral (IM) in layer-type chicks' diets. Both studies had the same dietary treatments, where in experiment 1 (Exp. 1) was conducted under thermoneutral conditions from 0 to 35 D and chicks in experiment 2 (Exp. 2) were exposed to cold stress conditions at nighttime during the first 15 D and to thermoneutral condition from 16 to 35 D. For each trial, 1,200 one-day-old Lohmann Brown chicks were used, with 20 cage replicates with 30 chicks per cage. Treatments consisted of the control diet (IM; with 70, 70, and 8 mg/kg of zinc [Zn], manganese [Mn], and copper [Cu], respectively) and the treatment diet (AACM, with 40, 40, and 2.75 mg/kg of Zn, Mn, and Cu, respectively, from IM sources, along with 30, 30, and 5.25 mg/kg of Zn, Mn, and Cu, respectively). Data were submitted to analysis of variance, and means were compared using the t-test (P < 0.05). In Exp. 1, there were no significant differences between treatments on chick performance. However, AACM-fed chicks had higher thymus (P = 0.03) and cecum weight (P < 0.01), superior micromineral deposition in the tibias (P < 0.01), and reduced phosphorus excretion (P = 0.03). In Exp. 2, chicks fed with AACM had higher body weight gain (P = 0.04), better average daily feed intake (P = 0.03), lower phosphorus excretion (P = 0.02), and higher liver and pancreas weight (P < 0.01) in the last week of the study. In conclusion, chicks fed with AACM under thermoneutral conditions had higher bone mineralization and reduced excretion of phosphorus, and in adverse conditions, AACM improves performance and liver and pancreas weight, also reducing phosphorus excretion., (Copyright © 2020. Published by Elsevier Inc.)
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- 2020
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9. The use of telemedicine to support Brazilian primary care physicians in managing eye conditions: The TeleOftalmo Project.
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Lutz de Araujo A, Moreira TC, Varvaki Rados DR, Gross PB, Molina-Bastos CG, Katz N, Hauser L, Souza da Silva R, Gadenz SD, Dal Moro RG, Cabral FC, Matturro L, Moraes Pagano CG, Faria AG, Falavigna M, da Silva Siqueira AC, Schor P, Gonçalves MR, Umpierre RN, and Harzheim E
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- Administration, Ophthalmic, Adolescent, Adult, Brazil, Child, Cross-Sectional Studies, Female, Humans, Male, Middle Aged, Ophthalmology methods, Physicians, Primary Care, Primary Health Care, Referral and Consultation, Refractive Errors diagnosis, Telemedicine, Visual Acuity physiology, Young Adult, Cataract diagnosis, Ocular Hypertension diagnosis
- Abstract
Purpose: To determine whether teleophthalmology can help physicians in assessing and managing eye conditions and to ascertain which clinical conditions can be addressed by teleophthalmology in primary care setting., Methods: We evaluated the resolution capacity of TeleOftalmo, strategy implemented in the public health system of southern Brazil. Resolution capacity was defined as the ability to fully address patients' eye complaints in primary care with remote assistance from ophthalmologists. Data from tele-eye reports were collected over 14 months. Resolution capacity was compared across different age groups and different ocular conditions., Results: Overall, 8,142 patients had a tele-eye report issued in the study period. Resolution capacity was achieved in 5,748 (70.6%) patients. When stratified into age groups, the lowest capacity was 43.1% among subjects aged ≥65 years, while the highest was 89.7% among subjects aged 13-17 years (p<0.001). Refractive error (70.3%) and presbyopia (56.3%) were the most prevalent conditions followed by cataract (12.4%) and suspected glaucoma (7.6%). Resolution capacity was higher in cases of refractive error, presbyopia, spasm of accommodation and lid disorders than in patients diagnosed with other condition (p<0.001)., Conclusions: With telemedicine support, primary care physicians solved over two-thirds of patients' eye or vision complaints. Refractive errors had high case resolution rates, thus having a great impact on reducing the number of referrals to specialty care. Teleophthalmology adoption in primary-care settings as part of the workup of patients with eye or vision complaints promotes a more effective use of specialty centers and will hopefully reduce waiting times for specialty referral., Competing Interests: The authors have declared that no competing interests exist.
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- 2020
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10. Thirty Years of Sweat Chloride Testing at One Referral Center.
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Faria AG, Marson FAL, Gomez CCS, Servidoni MF, Ribeiro AF, and Ribeiro JD
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Objective: To conduct a descriptive analysis of the sweat test (ST), associating ST results with epidemiological data, CFTR (cystic fibrosis transmembrane conductance regulator) mutations and reasons to indicate the ST, as well as correlating sweat sodium and sweat chloride concentrations in subjects., Methods: Retrospective survey and descriptive analysis of 5,721 ST at a university referral center., Results: The inclusion of the subjects was based on clinical data related with cystic fibrosis (CF) phenotype. The samples were grouped by (i) sweat chloride concentrations (mEq/L): <30: 3,249/5,277 (61.6%); ≥30 to <60: 1,326/5,277 (25.1%); ≥60: 702/5,277 (13.3%) and (ii) age: (Group A--GA) 0 to <6 months; (Group B--GB) ≥6 months to <18 years; (Group C--GC) ≥18 years. Digestive symptoms showed higher prevalence ratio for the CF diagnosis as well as association between younger age and higher values of sweat chloride, sweat sodium, and chloride/sodium ratio. The indication of ST due to respiratory symptoms was higher in GB and associated with greater age, lower values of sweat chloride, sweat sodium, and chloride/sodium ratio. There was higher prevalence of ST with sweat chloride levels <30 mEq/L in GB, ≥60 mEq/L in GC, and with borderline level in GB. There was positive correlation between sweat sodium and sweat chloride. Sweat chloride/sweat sodium and sweat sodium-sweat chloride indexes showed association with sex, reason for ST indication, and CFTR mutations. Sex alters some values presented in the ST. The number of ST/year performed before and after the newborn screening implementation was the same; however, we observed a higher number of borderlines values. A wide spectrum of CFTR mutation was found. Severe CFTR mutations and F508del/F508del genotype were associated with highest probability of ST chloride levels ≥60 mEq/L, and the absence of CFTR mutations identified was associated with borderline ST and respiratory symptoms., Conclusions: ST data showed wide variability dependent on age, sex, reason for examination indication, CFTR mutations, and weight of the collected sweat sample. Sweat sodium concentration is directly correlated with sweat chloride levels and it could be used as a quality parameter.
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- 2017
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11. The correlation between age and sweat chloride levels in sweat tests.
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Faria AG, Marson FAL, Ribeiro AF, and Ribeiro JD
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- Adolescent, Adult, Age Factors, Aged, Aged, 80 and over, Child, Child, Preschool, Humans, Infant, Infant, Newborn, Middle Aged, Young Adult, Chlorides analysis, Cystic Fibrosis diagnosis, Sweat chemistry
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- 2017
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12. Erratum to: Quality of sweat test (ST) based on the proportion of sweat sodium (Na) and sweat chloride (Cl) as diagnostic parameter of cystic fibrosis: are we on the right way?
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Faria AG, Marson FA, de Souza Gomez CC, Ribeiro MÂ, Morais LB, de Fátima Servidoni M, Bertuzzo CS, Sakano E, Goto M, Paschoal IA, Pereira MC, Hessel G, Levy CE, Toro AA, Peixoto AO, Simões MC, Lomazi EA, Nogueira RJ, Ribeiro AF, and Ribeiro JD
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- 2017
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13. Quality of sweat test (ST) based on the proportion of sweat sodium (Na) and sweat chloride (Cl) as diagnostic parameter of cystic fibrosis: are we on the right way?
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Faria AG, Marson FA, Gomez CC, Ribeiro MÂ, Morais LB, Servidoni MF, Bertuzzo CS, Sakano E, Goto M, Paschoal IA, Pereira MC, Hessel G, Levy CE, Toro AA, Peixoto AO, Simões MC, Lomazi EA, Nogueira RJ, Ribeiro AF, and Ribeiro JD
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- Adolescent, Adult, Aged, Aged, 80 and over, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Male, Middle Aged, Retrospective Studies, Young Adult, Chlorides analysis, Cystic Fibrosis diagnosis, Sodium analysis, Sweat chemistry
- Abstract
Background: To assess the quality of sweat test (ST) based on the proportion of sweat sodium and sweat chloride as diagnostic parameter of cystic fibrosis (CF)., Methods: A retrospective study of 5,721 sweat samples and subsequent descriptive analysis were carried out. The test was considered "of good quality" (correct) when: (i) sweat chloride was lower than 60 mEq/L, and sweat sodium was higher than sweat chloride; (ii) sweat chloride was higher than 60 mEq/L, and sweat sodium was lower than sweat chloride., Results: The study included 5,692/5,721 sweat samples of ST which had been requested due to clinical presentations compatible with CF and/or neonatal screenings with altered immunoreactive trypsinogen values. Considering the proportion of sweat sodium and sweat chloride as ST quality parameter, the test was performed correctly in 5,023/5,692 (88.2 %) sweat samples. The sweat chloride test results were grouped into four reference ranges for chloride (i) chloride < 30 mEq/L: 3,651/5,692 (64.1 %); (ii) chloride ≥ 30 mEq/L to < 40 mEq/L: 652/5,692 (11.5 %); (iii) ≥ 40 mEq/L to < 60 mEq/L: 673/5,692 (11.8 %); (iv) ≥ 60 mEq/L: 716/5,692 (12.6 %). In the comparative analysis, there was no association between ST quality and: (i) symptoms to indicate a ST [respiratory (p = 0.084), digestive (p = 0.753), nutritional (p = 0.824), and others (p = 0.136)], (ii) sweat weight (p = 0.416). However, there was a positive association with: (i) gender, (ii) results of ST (p < 0.001), (iii) chloride/sodium ratio (p < 0.001), (iv) subject's age at the time of ST [grouped according to category (p < 0.001) and numerical order (p < 0.001)]. For the subset of 169 patients with CF and two CFTR mutations Class I, II and/or III, in comparative analysis, there was a positive association with: (i) sweat chloride/sodium ratio (p < 0.001), (ii) sweat chloride values (p = 0.047), (iii) subject's age at the time of the ST grouped by numerical order (p = 0.001)., Conclusions: Considering that the quality of ST can be assessed by levels of sweat sodium and sweat chloride, an increasing number of low-quality tests could be observed in our sweat samples. The quality of the test was associated with important factors, such as gender, CF diagnosis, and subjects' age.
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- 2016
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14. Low C4, C4A and C4B gene copy numbers are stronger risk factors for juvenile-onset than for adult-onset systemic lupus erythematosus.
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Pereira KM, Faria AG, Liphaus BL, Jesus AA, Silva CA, Carneiro-Sampaio M, and Andrade LE
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- Adolescent, Adult, Age Factors, Age of Onset, Aged, Case-Control Studies, Complement C4 deficiency, Complement C4a genetics, Complement C4b genetics, Female, Genetic Predisposition to Disease, Humans, Lupus Erythematosus, Systemic complications, Lupus Erythematosus, Systemic immunology, Male, Middle Aged, Pericarditis etiology, Pericarditis genetics, Pericarditis immunology, Risk Factors, Young Adult, Complement C4 genetics, Gene Dosage, Lupus Erythematosus, Systemic genetics
- Abstract
Objective: Complete deficiency of Complement C4 component is a strong genetic risk factor for SLE. C4 is encoded by two different genes, C4A and C4B, which show considerable gene copy number (GCN) variation. This study investigates the association of total C4, C4A and C4B GCN with JSLE., Methods: Ninety JSLE patients, 170 adult-onset SLE (aSLE) patients and 200 healthy individuals were evaluated for C4A and C4B GCN by quantitative real-time PCR., Results: JSLE patients had lower GCN for C4A (mean = 1.7; 95% CI: 1.5, 1.9) and C4B (mean = 1.5; 95% CI: 1.3, 1.6) compared with healthy individuals (mean C4A = 2.3; 95% CI: 2.2, 2.5, P < 0.001; C4B = 2.0; 95% CI: 1.8, 2.1; P < 0.001) or with aSLE patients (mean C4A = 1.9; 95% CI: 1.8, 2.1, P = 0.006; mean C4B = 1.8; 95% CI: 1.7, 1.9, P < 0.001). Low total C4 GCN (<4 copies) was more frequent in JSLE than in healthy individuals (59% vs 28%; P < 0.001). The same was observed for low C4A (⩽1 copy) (52% vs 18%; P < 0.001) and for low C4B (60% vs 31%; P < 0.001). JSLE had a stronger association with low total C4 (OR = 3.68, 95% CI: 2.19, 6.20), C4A (OR = 4.98, 95% CI: 2.88, 8.62) and C4B (OR = 3.26; 95% CI: 1.95, 5.47) than aSLE (C4 OR = 2.03; 95% CI: 1.32, 3.13; C4A OR = 2.36; 95% CI: 1.46, 3.81; C4B OR = 1.13; 95% CI: 0.73, 1.74). In addition, pericarditis in JSLE patients was associated with low C4 (OR = 4.13; 95% CI: 1.02, 16.68; P = 0.047) and low C4A (OR = 5.54; 95% CI: 1.37, 22.32; P = 0.016)., Conclusion: Low total C4, C4A and C4B GCN were associated with a stronger risk for developing JSLE than aSLE. Additionally, low total C4 and C4A GCN are risk factors for pericarditis in JSLE., (© The Author 2016. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)
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- 2016
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15. Effect of exercise test on pulmonary function of obese adolescents.
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Faria AG, Ribeiro MA, Marson FA, Schivinski CI, Severino SD, Ribeiro JD, and Barros Filho AA
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- Adolescent, Body Mass Index, Child, Cross-Sectional Studies, Female, Humans, Male, Prospective Studies, Sex Factors, Spirometry, Time Factors, Exercise physiology, Exercise Test methods, Pediatric Obesity physiopathology, Respiratory Mechanics physiology
- Abstract
Objective: to investigate the pulmonary response to exercise of non-morbidly obese adolescents, considering the gender., Methods: a prospective cross-sectional study was conducted with 92 adolescents (47 obese and 45 eutrophic), divided in four groups according to obesity and gender. Anthropometric parameters, pulmonary function (spirometry and oxygen saturation [SatO2]), heart rate (HR), blood pressure (BP), respiratory rate (RR), and respiratory muscle strength were measured. Pulmonary function parameters were measured before, during, and after the exercise test., Results: BP and HR were higher in obese individuals during the exercise test (p = 0.0001). SatO2 values decreased during exercise in obese adolescents (p = 0.0001). Obese males had higher levels of maximum inspiratory and expiratory pressures (p = 0.0002) when compared to obese and eutrophic females. Obese males showed lower values of maximum voluntary ventilation, forced vital capacity, and forced expiratory volume in the first second when compared to eutrophic males, before and after exercise (p = 0.0005). Obese females had greater inspiratory capacity compared to eutrophic females (p = 0.0001). Expiratory reserve volume was lower in obese subjects when compared to controls (p ≤ 0,05)., Conclusion: obese adolescents presented changes in pulmonary function at rest and these changes remained present during exercise. The spirometric and cardiorespiratory values were different in the four study groups. The present data demonstrated that, in spite of differences in lung growth, the model of fat distribution alters pulmonary function differently in obese female and male adolescents., (Copyright © 2013 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.)
- Published
- 2014
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16. [Hypothyroid polyneuropathy in a patient with autoimmune polyglandular syndrome type 2: case report].
- Author
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Pascoal AG, Moreira EL, Faria AG, Leite SF, Pinto IH, Magalhães JE, Diniz ET, Canuto JM, Canuto VM, and Ferreira SM
- Subjects
- Addison Disease complications, Adult, Hashimoto Disease complications, Hormone Replacement Therapy, Humans, Male, Polyneuropathies drug therapy, Thyroid Hormones blood, Thyroxine therapeutic use, Hypothyroidism complications, Polyendocrinopathies, Autoimmune complications, Polyneuropathies etiology
- Abstract
The incidence of polyneuropathy in patients with hypothyroidism is not precisely known, but some studies report that about 25% to 42% of patients may show neuropathic clinical signs. We report a case of autoimmune poliglandular syndrome type 2 (APS-2), whose initial presentation was hypothyroid polyneuropathy. A 41-year-old man complained of slowly progressive paresthesias and weakness affecting all four limbs, and associated with frequent drowsiness, weakness, cold intolerance, dizziness, nausea, and craving for salt. General physical examination showed hyperpigmentation of skin and mucous membranes, and hypotension. Neurological examination showed global, deep, and symmetrical hyporeflexia with slight signs of superficial hypoesthesia in the limbs. Electrodiagnostic studies (ENMG) together with laboratory tests, confirmed the suspicion of Hashimoto's thyroiditis associated with Addison's disease featuring the picture of APS-2. The patient was treated with fludrocortisone 0.05 mg/day and levothyroxine 100 mcg/day, and showed gradual and complete resolution of complaints. Changes were found in general physical and neurological examinations. ENMG repeated six months later showed complete resolution of neuropathy. This report shows a rare case of APS-2 presented as polyneuropathy hypothyroidism, and reinforces the importance of dosing thyroid hormone in polyneuropathy syndromes. Levothyroxine replacement was shown to be effective in reversing clinical and electrophysiologic neuropathy.
- Published
- 2014
- Full Text
- View/download PDF
17. Echolalia in the language development of autistic individuals: a bibliographical review.
- Author
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Saad AG and Goldfeld M
- Subjects
- Adolescent, Child, Humans, Autistic Disorder psychology, Communication, Echolalia psychology, Language Development
- Abstract
Background: echolalia is one of the most common symptoms among the language characteristics in Autism., Aim: to provide a detailed literature revision about the role of echolalia in the language development process of autistic individuals, and to discuss the use of this language feature in the speech-language clinical practice. The researches show classifications and analysis criterions of echolalia in a discursive context. A few of the analyzed studies are against the use of echolalia, pointing that it has no communicative function, and therefore should be discouraged. On the other hand, other studies indicate that echolalia has a communicative value and can be used as a communicative in speech-language intervention., Conclusion: this bibliographical review raises the issue about the importance of evaluating the conditions in which echolalia might occur before considering it as having a communicative value or not.
- Published
- 2009
- Full Text
- View/download PDF
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