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- Efficacy of Oral Furosemide Test for Primary Aldosteronism Diagnosis(2023) FREITAS, Thais C.; MACIEL, Ana Alice W.; FAGUNDES, Gustavo F. C.; PETENUCI, Janaina; SANTANA, Lucas S.; GUIMARAES, Augusto G.; FREITAS-CASTRO, Felipe; SROUGI, Victor; TANNO, Fabio Y.; CHAMBO, Jose L.; PEREIRA, Maria Adelaide A.; BRITO, Luciana P.; PIO-ABREU, Andrea; BORTOLOTTO, Luiz A.; LATRONICO, Ana Claudia; V, Maria Candida B. Fragoso; DRAGER, Luciano F.; MENDONCA, Berenice B.; ALMEIDA, Madson Q.Context: Confirmatory tests represent a fundamental step in primary aldosteronism (PA) diagnosis, but they are laborious and often require a hospital environment due to the risks involved.Objective: To evaluate the efficacy of oral furosemide as a new confirmatory test for PA diagnosis.Methods: We prospectively evaluated the diagnostic performance of 80 mg of oral furosemide in 64 patients with PA and 22 with primary hypertension (controls). Direct renin concentration (DRC) was measured before, and 2 hours and 3 hours after the oral furosemide. In addition, the oral furosemide test was compared with 2 other confirmatory tests: the furosemide upright test (FUT) and saline infusion test (SIT) or captopril challenge test (CCT) in all patients with PA.Results: The cut-off of 7.6 mu U/mL for DRC at 2 hours after oral furosemide had a sensitivity of 92%, specificity of 82%, and accuracy of 90% for PA diagnosis. In 5 out of 6 controls with low-renin hypertension, which might represent a PA spectrum, renin remained suppressed. Excluding these 6 controls with low-renin hypertension, the DRC cut-off of 10 mu U/mL at 2 hours after oral furosemide had a sensitivity of 95.3%, specificity of 93.7% and accuracy of 95% for PA diagnosis. DRC after 3 hours of oral furosemide did not improve diagnostic performance. Using the cut-off of 10 mu U/mL, the oral furosemide test and the FUT were concordant in 62 out of 64 (97%) patients with PA. Only 4 out of 64 cases with PA (6.4%) ended the oral furosemide test with potassium <3.5 mEq/L. Hypotension was not evidenced in any patient with PA during the test.Conclusion: The oral furosemide test was safe, well-tolerated and represents an effective strategy for PA investigation.
- Cost-Utility Analysis of Continuous Positive Airway Pressure Therapy Compared With Usual Care for Obstructive Sleep Apnea in the Public Health System in Brazil(2024) PACHITO, Daniela V.; ECKELI, Alan L.; DRAGER, Luciano F.Objectives: This study aimed to conduct a cost-utility analysis of continuous positive airway pressure (CPAP) therapy compared with usual care as treatment of moderate to severe cases of obstructive sleep apnea (OSA) in Brazil, where decentralized policies of CPAP provision are in place.Methods: Markov cohort model comparing CPAP therapy with usual care, that is, no specific treatment for OSA, for moderate to severe cases was used. The payer perspective from the Unified Health System, Brazil, was adopted. Effectiveness parameters and costs related to health states were informed by literature review. Resource use related to CPAP therapy was defined by specialists and costs informed by recent purchase and leasing contracts. Incremental cost-effectiveness ratios were generated for purchase and leasing contracts to reflect current practices. A conservative willingness-to-pay threshold was set at 1 gross domestic product per capita per quality-adjusted life-year (QALY) (Brazilian reais [BRL] 40 712/QALY). Uncertainties were explored in deterministic and probabilistic sensitivity analyses.Results: Incremental cost-effectiveness ratio for the purchase modality was 8303 BRL/QALY and for leasing 45 192 BRL/QALY. Considering the adopted willingness-to-pay threshold, provision of CPAP by the purchase modality was considered costeffective but not the leasing modality. The parameter related to the greatest uncertainty was the reduction in the risk of having a stroke attributable to CPAP. Probabilistic analysis confirmed the robustness of results.Conclusions: CPAP therapy is a cost-effective alternative compared with usual care for moderate to severe OSA for the purchase modality. These results should help underpinning the decision making related to a uniform policy of CPAP provision across the country.
- Brazilian Consensus on Sleep-Focused Speech-Language-Hearing Sciences - 2023 Brazilian Sleep Association(2023) STUDART-PEREIRA, Luciana Moraes; BIANCHINI, Esther Mandelbaum Goncalves; ASSIS, Marcia; BUSSI, Marieli Timpani; CORREA, Camila de Castro; CUNHA, Thays Crosara Abrahao; DRAGER, Luciano Ferreira; IETO, Vanessa; LORENZI-FILHO, Geraldo; LUCCAS, Gabriele Ramos De; BRASIL, Evelyn Lucien; SOVINSKI, Silmara Regina Pavani; ZANCANELLA, Edilson; PIRES, Gabriel NatanIntroduction This consensus aimed to develop a structured document presenting the role of sleep-focused Speech-Language-Hearing (SPH) Sciences (SPHS). The recommendations were based on the expertise of specialists and on evidence in the literature, aiming to guide the coverage of this area and the consequent improvement in the quality of the professionals' approach. Methods A Delphi method was conducted with 49 SLH pathologists (SLHP), four sleep physicians, one dentist, one physical therapist, and one methodologist. Four Delphi panel rounds were conducted in Google Forms. The items were analyzed based on the panelists' percentage of agreement; consensuses were reached when 2/3 (66.6%) of valid responses were on a same on a same answer (either ""agree"" or ""disagree""). Results Participants voted on 102 items. The mean consensus rate was 89.9%10.9%. The essential topics were the importance of professional training, the SLH diagnosis, and the SLH treatment of sleep disorders. It was verified that all fields of the SLHS are related to the area of sleep; that sleep-focused SLH pathologists (SLHP) are the responsible for assessing, indicating, and conducting specific orofacial myofunctional therapy for sleep-disordered breathing alone or in combination with other treatments; that SLHP are included in interdisciplinary teams in the area of sleep in public and private services. Discussion The Brazilian consensus on sleep-focused SLHS is a landmark in this area. This consensus described the scope of action of sleep-focused SLHP and systematized recommendations being useful as a reference for the professional practice in the area of sleep.
- 2023 Guidelines on the Diagnosis and Treatment of Insomnia in Adults - Brazilian Sleep Association(2023) DRAGER, Luciano Ferreira; ASSIS, Marcia; BACELAR, Andrea Frota Rego; POYARES, Dalva Lucia Rollemberg; CONWAY, Silvia Goncalves; PIRES, Gabriel Natan; AZEVEDO, Alexandre Pinto de; CARISSIMI, Alicia; ECKELI, Allan Luiz; PENTAGNA, Alvaro; ALMEIDA, Carlos Mauricio Oliveira; FRANCO, Clelia Maria Ribeiro; SOBREIRA, Emmanuelle Silva Tavares; STELZER, Fernando Gustavo; MENDES, Giuliana Macedo; MINHOTO, Gisele Richter; LINARES, Ila Marques Porto; SOUSA, Ksdy Maiara Moura; GITAI, Livia Leite Goes; SUKYS-CLAUDINO, Lucia; SOBREIRA-NETO, Manoel Alves; ZANINI, Marcio Andrei; MARGIS, Regina; MARTINEZ, Sandra Cristina GoncalvesChronic insomnia disorder (simplified in this document as insomnia) is an increasingly common clinical condition in society and a frequent complaint at the offices of different areas of health practice (particularly Medicine and Psychology). This scenario has been accompanied by a significant evolution in treatment, as well as challenges in approaching patients in an appropriately way. This clinical guideline, coordinated by the Brazilian Sleep Association and the Brazilian Association of Sleep Medicine and counting on the active participation of various specialists in the area, encompasses an update on the diagnosis and treatment of insomnia in adults. To this end, it followed a structured methodology. Topics of interest related to diagnosis were written based on theoretical framework, evidence in the literature, and professional experience. As for the topics related to the treatment of insomnia, a series of questions were developed based on the PICO acronym (P - Patient, problem, or population; I - Intervention; C - Comparison, control, or comparator; O - Outcome). The work groups defined the eligible options within each of these parameters. Regarding pharmacological interventions, only the ones currently available in Brazil or possibly becoming available in the upcoming years were considered eligible. Systematic reviews were conducted to help prepare the texts and define the level of evidence for each intervention. The final result is an objective and practical document providing recommendations with the best scientific support available to professionals involved in the management of insomnia.
- Obstructive Sleep Apnea Is a Distinct Physiological Endotype in Individuals with Comorbid Insomnia and Sleep Apnea(2023) BROOKER, Elliot J.; LANDRY, Shane A.; THOMSON, Luke D. J.; HAMILTON, Garun S.; GENTA, Pedro R.; DRUMMOND, Sean P. A.; EDWARDS, Bradley A.Rationale: With up to 40% of individuals with either insomnia or obstructive sleep apnea (OSA) demonstrating clinically significant symptoms of the other disorder, the high degree of comorbidity among the two most common sleep disorders suggests a bidirectional relationship and/or shared underpinnings. Although the presence of insomnia disorder is believed to influence the underlying pathophysiology of OSA, this influence is yet to be examined directly. Objectives: To investigate whether the four OSA endotypes (upper airway collapsibility, muscle compensation, loop gain, and the arousal threshold) are different in patients with OSA with and without comorbid insomnia disorder. Methods: Using the ventilatory flow pattern captured from routine polysomnography, the four OSA endotypes were measured in 34 patients with OSA who met the diagnostic criteria for insomnia disorder (COMISA) and 34 patients with OSA without insomnia (OSA only). Patients demonstrated mild-to-severe OSA (apnea-hypopnea index, 25.8 +/- 2.0 events/h) and were individually matched according to age (50.2 +/- 1.5 yr), sex (42 male: 26 female), and body mass index (29.3 +/- 0.6 kg/m(2)). Results: Compared with patients with OSA without comorbid insomnia, patients with COMISA demonstrated significantly lower respiratory arousal thresholds (128.9 [118.1 to 137.1] vs. 147.7 [132.3 to 165.0] % eupneic ventilation ((V) overbar(eupnea)); U= 261; 95% confidence interval [CI], 238.3 to 213.9; d= 1.1; P < 0.001), less collapsible upper airways (88.2 [85.5 to 94.6] vs. 72.9 [64.7 to 79.2] %(V) overbar(eupnea); U= 1081; 95% CI, 14.0 to 26.7; d= 2.3; P < 0.001), and more stable ventilatory control (i.e., lower loop gain: 0.51 [0.44 to 0.56] vs. 0.58 [0.49 to 0.70]; U= 402; 95% CI, 20.2 to 20.01; d= 0.05; P= 0.03). Muscle compensation was similar between groups. Moderated linear regression revealed that the arousal threshold moderated the relationship between collapsibility and OSA severity in patients with COMISA but not in patients with OSA only. Conclusions: A low arousal threshold is an overrepresented endotypic trait in individuals with COMISA and may exhibit a greater relative contribution to OSA pathogenesis in these patients. Contrastingly, the prevalence of a highly collapsible upper airway in COMISA was low, suggesting that anatomical predisposition may contribute less to OSA development in COMISA. Based on our findings, we theorize that conditioned hyperarousal perpetuating insomnia may translate to a reduced arousal threshold to respiratory events, thereby increasing the risk or severity of OSA. Therapies that target increased nocturnal hyperarousal (e.g., through cognitive behavior therapy for insomnia) may be effective in individuals with COMISA.
- Drug use among medical students in São Paulo, Brazil: a cross-sectional study during the coronavirus disease 2019 pandemic(2024) LEMOS-SANTOS, Pedro; BLUMRICH, Lukas; DEBIA, Jordi Blanes; CASTALDELLI-MAIA, Joao Mauricio; SUEN, Paulo Jeng Chian; MALBERGIER, AndreBACKGROUND: Medical students demonstrate higher rates of substance use than other university students and the general population. The challenges imposed by the coronavirus disease 2019 (COVID-19) pandemic raised significant concerns about mental health and substance use.OBJECTIVES: Assess the current prevalence of substance use among medical students at the University of Sao Paulo and evaluate the impact of the COVID-19 pandemic on drug consumption.DESIGN AND SETTING: A cross-sectional study was conducted on 275 medical students from the UniverMETHODS: Substance use (lifetime, previous 12 months, and frequency of use before and during the COVID-19 pandemic) and socioeconomic data were assessed using an online self-administered questionnaire. Symptoms of depression were assessed using the Patient Health Questionnaire-9. RESULTS: Alcohol was the most consumed substance in their lifetime (95.6%), followed by illicit drugs (61.1%), marijuana (60%), and tobacco (57.5%). The most commonly consumed substances in the previous year were alcohol (82.9%), illicit drugs (44.7%), marijuana (42.5%), and tobacco (36%). Students in the first two academic years consumed fewer substances than those from higher years. There was a decreasing trend in the prevalence of most substances used after the COVID-19 pandemic among sporadic users. However, frequent users maintained their drug use patterns.CONCLUSION: The prevalence of substance use was high in this population and increased from the basic to the clinical cycle. The COVID-19 pandemic may have affected the frequency of drug use and prevalence estimates.
- The Cardiovascular Impact of Obstructive Sleep Apnea in Women Current Knowledge and Future Perspectives(2023) PARISE, Barbara K.; FERREIRA, Naira Lapi; DRAGER, Luciano F.
- Comorbid association of obstructive sleep apnea (OSA) and thrombotic primary antiphospholipid syndrome (tPAPS): A more severe phenotype?(2023) BALBI, Gustavo Guimaraes Moreira; SIGNORELLI, Flavio; GANDARA, Ana Paula; AZAM, Indira; BARROS, Silvana de; MARREIROS, Dilson; GENTA, Pedro Rodrigues; LOTUFO, Paulo Andrade; BENSENOR, Isabela M.; DRAGER, Luciano F.; ANDRADE, DanieliObjective: We aimed to evaluate the frequency of obstructive sleep apnea (OSA) in patients with thrombotic primary antiphospholipid syndrome (tPAPS), to investigate the performance of screening tools for OSA in this scenario and to compare clinical/laboratorial differences in tPAPS patients with and without OSA.Methods: We consecutively enrolled patients with tPAPS to undergo sleep studies using a portable monitor. OSA was defined as apnea-hypopnea index >= 15 events/h. Frequency of OSA in tPAPS was evaluated and compared with age-, gender-, and BMI-matched controls (1:3 ratio) from the Estudo Longitudinal de Saude do Adulto (ELSA-Brasil). Next, we tested the performance of three different screening tools for assessing OSA in patients with tPAPS. Finally, patients with tPAPS were stratified according to OSA status comparing their clinical and laboratory characteristics (including damage burden measured by Damage Index for Antiphospholipid Syndrome [DIAPS] and biomarkers associated with thrombosis) using standard statistical procedures.Results: Fifty-two patients were included for analysis (females: 82.7%; mean age: 48 +/- 14 years; body-mass index: 31.1 +/- 6.5 Kg/m(2); 25% with moderate-severe OSA). When compared to matched controls from ELSABrasil (n = 115), there was no significant differences in the frequencies of OSA (tPAPS: 12/42 [28.6%] vs. controls: 35/115 [30.4%], p = 0.821). Among screening tools, NoSAS had the highest area under ROC curve (AUC 0.806, CI 95% 0.672-0.939, p = 0.001), followed by STOP-Bang (AUC 0.772, CI 95% 0.607-0.938, p = 0.004). Patients with comorbid tPAPS and OSA presented higher levels of von Willebrand factor (vWF) (median 38.9 vs. 32.6, p = 0.038) and DIAPS (median 5 vs. 2, p = 0.020), when compared to those without OSA. OSA remained statistically associated with higher DIAPS, even after controlling for age, disease duration and BMI.Conclusion: OSA is common in patients with tPAPS, with rates comparable to a non-referred population. Both NoSAS and STOP-Bang scores seems to be useful for screening OSA in these patients. Patients with tPAPS+OSA had higher damage burden and higher levels of vWF, which might suggest a more severe phenotype of tPAPS in this scenario.
- What is the Best Antihypertensive Treatment for OSA?(2023) LIMA-JUNIOR, Jose Gilvam A.; MARTINS, Ana Vitoria Vitoreti; DRAGER, Luciano F.
- Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi-Goutieres Syndrome Phenotype(2023) BARCELOS, Isabella Peixoto de; BUENO, Clarissa; GODOY, Luis Filipe S.; PESSOA, Andre; COSTA, Larissa A.; MONTI, Fernanda C.; SOUZA-CABRAL, Katiane; LISTIK, Clarice; CASTRO, Diego; DELLA-RIPA, Bruno; FREUA, Fernando; PIRES, Lais C.; KRUGER, Lia T.; GHERPELLI, Jose Luiz D.; PIAZZON, Flavia B.; MONTEIRO, Fabiola P.; LUCATO, Leandro T.; KOK, FernandoObjective: To report a series of atypical presentations of Aicardi-Goutieres syndrome. Methods: Clinical, neuroimaging, and genetic data. Results: We report a series of six unrelated patients (five males) with a subacute loss of developmental milestones, pyramidal signs, and regression of communication abilities, with onset at ages ranging from 7 to 20 months, reaching a nadir after 4 to 24 weeks. A remarkable improvement of lost abilities occurred in the follow-up, and they remained with residual spasticity and dysarthria but preserved cognitive function. Immunization or febrile illness occurred before disease onset in all patients. CSF was normal in two patients, and in four, borderline or mild lymphocytosis was present. A brain CT scan disclosed a subtle basal ganglia calcification in one of six patients. Brain MRI showed asymmetric signal abnormalities of white matter with centrum semi-ovale involvement in five patients and a diffuse white matter abnormality with contrast enhancement in one. Four patients were diagnosed and treated for acute demyelinating encephalomyelitis (ADEM). Brain imaging was markedly improved with one year or more of follow-up (average of 7 years), but patients remained with residual spasticity and dysarthria without cognitive impairment. Demyelination relapse occurred in a single patient four years after the first event. Whole-exome sequencing (WES) was performed in all patients: four of them disclosed biallelic pathogenic variants in RNASEH2B (three homozygous p.Ala177Thr and one compound heterozygous p.Ala177Thr/p.Gln58*) and in two of them the same homozygous deleterious variants in RNASEH2A (p.Ala249Val). Conclusions: This report expands the phenotype of AGS to include subacute developmental regression with partial clinical and neuroimaging improvement. Those clinical features might be misdiagnosed as ADEM.
- Obstructive sleep apnea and hypertension-mediated organ damage in nonresistant and resistant hypertension(2023) CABRINI, Mayara L.; MACEDO, Thiago A.; CASTRO, Emerson; BARROS, Silvana de; AZAM, Indira; PIO-ABREU, Andrea; SILVA, Giovanio V.; LORENZI-FILHO, Geraldo; BORTOLOTTO, Luiz A.; DRAGER, Luciano F.The potential role of obstructive sleep apnea (OSA) in hypertension-mediated organ damage (HMOD) may be influenced by the presence of resistant hypertension (RH). Herein, we enrolled patients with hypertension from a tertiary center for clinical evaluation and performed a sleep study to identify OSA (apnea-hypopnea index >= 15 events/h) and a blinded analysis of four standard HMOD parameters (left ventricular hypertrophy [LVH], increased arterial stiffness [>= 10 m/s], presence of retinopathy, and nephropathy). RH was diagnosed based on uncontrolled blood pressure (BP) (>= 140/90 mmHg) despite concurrent use of at least three antihypertensive drug classes or controlled BP with concurrent use of >= 4 antihypertensive drug classes at optimal doses. To avoid the white-coat effect, ambulatory BP monitoring was performed to confirm RH diagnosis. One-hundred patients were included in the analysis (mean age: 54 +/- 8 years, 65% females, body mass index: 30.4 +/- 4.5 kg/m(2)). OSA was detected in 52% of patients. Among patients with non-RH (n = 53), the presence of OSA (52.8%) was not associated with an increased frequency of HMOD. Conversely, among patients with RH, OSA (51.1%) was associated with a higher incidence of LVH (RH-OSA,61%; RH + OSA,87%; p = 0.049). Logistic regression analysis using the total sample revealed that RH (OR:7.89; 95% CI:2.18-28.52; p = 0.002), systolic BP (OR:1.04; 95% CI:1.00-1.07; p = 0.042) and OSA (OR:4.31; 95% CI:1.14-16.34; p = 0.032) were independently associated with LVH. No significant association was observed between OSA and arterial stiffness, retinopathy, or nephropathy. In conclusion, OSA is independently associated with LVH in RH, suggesting a potential role of OSA in RH prognosis.
- Shorter History of Hypertension as a Predictor of Hypertension Remission after 3-years of Bariatric Surgery: Data from the GATEWAY Trial(2023) OLIVEIRA, Juliana D. D.; SCHIAVON, Carlos A. A.; OLIVEIRA, Julia S. S.; SANTOS, Renato N. N.; DAMIANI, Lucas P. P.; IKEOKA, Dimas; SANTUCCI, Eliana V. V.; MACHADO, Rachel Helena V.; BORTOLOTTO, Luiz A. A.; BERWANGER, Otavio; CAVALCANTI, Alexandre B. B.; DRAGER, Luciano F. F.Background Previous evidence explored predictors of hypertension (HTN) remission after bariatric but data are limited to observational studies and lack of ambulatory blood pressure monitoring (ABPM). This study was aimed to evaluate the rate of HTN remission after bariatric surgery using ABPM and to define predictors of mid-term HTN remission. Methods We included patients enrolled in the surgical arm of the GATEWAY randomized trial. HTN remission was defined as controlled blood pressure (< 130 x 80 mmHg) evaluated by 24-h ABPM while no need of anti-hypertensive medications after 36 months. A multivariable logistic regression model was used to assess the predictors of HTN remission after 36 months. Results 46 patients submitted Roux-en-Y gastric bypass (RYGB). HTN remission occurred in 39% (n = 14 out of 36 patients with complete data at 36 months). Patients with HTN remission had shorter HTN history than no remission group (5.9 +/- 5.5 vs. 12.5 +/- 8.1 years; p = 0.01). The baseline insulin levels were lower in patients who presented HTN remission, although not statistically significant (OR: 0.90; CI 95%: 0.80-0.99; p = 0.07). In the multivariate analysis, the HTN history (years) was the only independent predictor of HTN remission (OR: 0.85; 95% CI: 0.70-0.97; p = 0.04). Therefore, for each additional year of HTN history, the chance of HTN remission decreases by approximately 15% after RYGB. Conclusion After 3 years of RYGB, HTN remission defined by ABPM was common and independently associated with a shorter HTN history. These data underscore the need of early effective approach of obesity aiming greater impact in its comorbidities.
- Primary Prevention of Cardiovascular Disease at Community Clinics in the State of Sao Paulo, Brazil: Results from the Epidemiological Information Study of Communities(2023) FONSECA, Henrique Andrade R.; IZAR, Maria cristina O.; DRAGER, Luciano F.; PINTO, Ibraim M.; SARAIVA, Jose Francisco K.; FERREIRA, Joao Fernando Monteiro; AVEZUM, Alvaro; FONSECA, Francisco Antonio; BERWANGER, OtavioBackground: Primary prevention of cardiovascular disease (CVD) remains a major challenge, especially in communities of low-and middle-income countries with poor medical assistance influenced by distinct local, financial, infrastructural, and resource -related factors. Objective: This a community-based study aimed to determine the proportion and prevalence of uncontrolled cardiovascular risk factors (CRF) in Brazilian communities. Methods: The EPICO study was an observational, cross-sectional, and community clinic-based study. Subjects were living in Brazilian communities and were of both sexes and & GE;18 years old, without a history of a stroke or myocardial infarction but presenting at least one of the following cardiovascular risk factors: hypertension, diabetes mellitus and hypercholesterolemia. The study was carried out in Brazil, including 322 basic health units (BHU) in 32 cities. Results: A total of 7,724 subjects with at least one CRF were evaluated, and one clinical visit was performed. Mean age was 59.2 years-old (53.7% were >60 years old). A total of 66.7% were women. Of the total, 96.2% had hypertension, 78.8% had diabetes mellitus type II, 71.1% had dyslipidemia, and 76.6% of patients were overweight/obese. Controlled hypertension (defined by <130/80 mmHg or <140/90 mmHg) was observed in 34.9% and 55.5% patients among respective criteria, the rates of controlled blood glucose in patients taking antidiabetic medications was 29.5%, and among those with documented dyslipidemia who received any lipid-lowering medication, only 13.9% had LDL-c on target. For patients presenting three CRF less than 1.9% had LDL-c < 100 mg/dL once their BP and blood glucose were on target. High education level as associated with blood pressure (BP) target of less than 130 / 80mm Hg. The glucose and LDL-c levels on target were associated with the presence of hypertension and diabetes mellitus. Conclusion: In Brazilian community clinics, regarding most patients in primary prevention, the CRF such as BP, blood glucose, and lipid levels are poorly controlled, with a majority of patients not achieving guidelines/recommendations.
- BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening(2023) TANGERAAS, Trine; CONSTANTE, Juliana R.; BACKE, Paul Hoff; OYARZABAL, Alfonso; NEUGEBAUER, Julia; WEINHOLD, Natalie; BOEMER, Francois; DEBRAY, Francois G.; OZTURK-HISM, Burcu; EVREN, Gumus; TUBA, Eminoglu F.; UMMUHAN, Oncul; FOOTITT, Emma; DAVISON, James; MARTINEZ, Caroline; BUENO, Clarissa; MACHADO, Irene; RODRIGUEZ-POMBO, Pilar; AL-SANNAA, Nouriya; SANTOS, Mariela de los; LOPEZ, Jordi Muchart; OZTURKMEN-AKAY, Hatice; KARACA, Meryem; TEKIN, Mustafa; PAJARES, Sonia; ORMAZABAL, Aida; STOWAY, Stephanie D.; ARTUCH, Rafael; DIXON, Marjorie; MORKRID, Lars; GARCIA-CAZORLA, AngelesThere are few causes of treatable neurodevelopmental diseases described to date. Branched-chain ketoacid dehydrogenase kinase (BCKDK) deficiency causes branched-chain amino acid (BCAA) depletion and is linked to a neurodevelopmental disorder characterized by autism, intellectual disability and microcephaly. We report the largest cohort of patients studied, broadening the phenotypic and genotypic spectrum. Moreover, this is the first study to present newborn screening findings and mid-term clinical outcome. In this cross-sectional study, patients with a diagnosis of BCKDK deficiency were recruited via investigators' practices through a MetabERN initiative. Clinical, biochemical and genetic data were collected. Dried blood spot (DBS) newborn screening (NBS) amino acid profiles were retrieved from collaborating centres and compared to a healthy newborn reference population. Twenty-one patients with BCKDK mutations were included from 13 families. Patients were diagnosed between 8 months and 16 years (mean: 5.8 years, 43% female). At diagnosis, BCAA levels (leucine, valine and isoleucine) were below reference values in plasma and in CSF. All patients had global neurodevelopmental delay; 18/21 had gross motor function (GMF) impairment with GMF III or worse in 5/18, 16/16 intellectual disability, 17/17 language impairment, 12/17 autism spectrum disorder, 9/21 epilepsy, 12/15 clumsiness, 3/21 had sensorineural hearing loss and 4/20 feeding difficulties. No microcephaly was observed at birth, but 17/20 developed microcephaly during follow-up. Regression was reported in six patients. Movement disorder was observed in 3/21 patients: hyperkinetic movements (1), truncal ataxia (1) and dystonia (2). After treatment with a high-protein diet (>= 2 g/kg/day) and BCAA supplementation (100-250 mg/kg/day), plasma BCAA increased significantly (P < 0.001), motor functions and head circumference stabilized/improved in 13/13 and in 11/15 patients, respectively. Among cases with follow-up data, none of the three patients starting treatment before 2 years of age developed autism at follow-up. The patient with the earliest age of treatment initiation (8 months) showed normal development at 3 years of age. NBS in DBS identified BCAA levels significantly lower than those of the normal population. This work highlights the potential benefits of dietetic treatment, in particular early introduction of BCAA. Therefore, it is of utmost importance to increase awareness about this treatable disease and consider it as a candidate for early detection by NBS programmes. Tangeraas et al. describe the largest series of BCKDK deficiency patients to date, including responses to dietetic treatment. Early introduction of BCAA ameliorates the BCKDK deficiency phenotype. This treatable neurodevelopmental disease should be considered for inclusion in newborn screening programmes.
- Editorial: Melatonin and biological rhythms: from bench to bedside(2023) BUENO, Clarissa; AMARAL, Fernanda Gaspar Do; SPRUYT, Karen
- Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia(2022) FREUA, Fernando; ALMEIDA, Mariana Espindola de Castro; NOBREGA, Paulo Ribeiro; PAIVA, Anderson Rodrigues Brandao de; DELLA-RIPA, Bruno; CUNHA, Paulina; MACEDO-SOUZA, Lucia Ines; BUENO, Clarissa; LYNCH, David S. S.; HOULDEN, Henry; LUCATO, Leandro Tavares; KOK, FernandoArgininemia or arginase deficiency is a metabolic disorder caused by pathogenic variants in ARG1 and consists of a variable association of progressive spastic paraplegia, intellectual disability, and seizures. Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder characterized by lower limb spasticity. This study presents seven patients with arginase 1 deficiency from six different families, all with an initial diagnosis of complicated HSP. We evaluated the clinical data of seven patients belonging to six independent families who were diagnosed with hyperargininemia in a neurogenetics outpatient clinic. All patients had lower limb spasticity and six had global developmental delay. Five individuals had intellectual disability and two had epilepsy. Psychiatric abnormalities were seen in two patients. In two participants of this study, magnetic resonance imaging (MRI) disclosed thinning of the corpus callosum. Molecular diagnosis was made by whole-exome sequencing. All variants were present in homozygosis; we identified two novel missense variants, one novel frameshift variant, and one previously published missense variant. A clinical diagnosis of early-onset complicated hereditary spastic paraplegia was made in all patients. Two patients were initially suspected of having SPG11 because of thinning of the corpus callosum. As argininemia may present with a highly penetrant phenotype of spastic paraplegia associated with additional symptoms, this disease may represent a specific entity among the complicated HSPs.
- Post-COVID-19 Cardiopulmonary Symptoms: Predictors and Imaging Features in Patients after Hospital Discharge(2023) KALIL-FILHO, Roberto; SARETTA, Roberta; FRANCI, Andre; BARACIOLI, Luciano M.; GALAS, Filomena R. B. G.; GIL, Juliana S.; FERINO, Amanda; GIACOVONE, Camilla; OLIVEIRA, Isabella; SOUZA, Johnatan; BATISTA, Vanessa; NETO, Augusto Scalabrini; COSTA, Livia do Valle; RUIZ, Amanda Danieleto; LEDO, Carla B.; NASCIMENTO, Teresa Cristina D. C.; DRAGER, Luciano F.Background: Most of the evidence about the impact of the post-acute COVID-19 Syndrome (PACS) reports individual symptoms without correlations with related imaging. Objectives: To evaluate cardiopulmonary symptoms, their predictors and related images in COVID-19 patients discharged from hospital. Methods: Consecutive patients who survived COVID-19 were contacted 90 days after discharge. The Clinic Outcome Team structured a questionnaire evaluating symptoms and clinical status (blinded for hospitalization data). A multivariate analysis was performed to address the course of COVID-19, comorbidities, anxiety, depression, and post-traumatic stress during hospitalization, and cardiac rehabilitation after discharge. The significance level was set at 5%. Results: A total of 480 discharged patients with COVID-19 (age: 59 +/- 14 years, 67.5% males) were included; 22.3% required mechanical ventilation. The prevalence of patients with PACS-related cardiopulmonary symptoms (dyspnea, tiredness/fatigue, cough, and chest discomfort) was 16.3%. Several parameters of chest computed tomography and echocardiogram were similar in patients with and without cardiopulmonary symptoms. The multivariate analysis showed that PACS-related cardiopulmonary-symptoms were independently related to female sex (OR 3.023; 95% CI 1.319-6.929), in-hospital deep venous thrombosis (OR 13.689; 95% CI 1.069-175.304), elevated troponin I (OR 1.355; 95% CI 1.048-1.751) and C-reactive protein during hospitalization (OR 1.060; 95% CI 1.023-1.097) and depression ( OR 6.110; 95% CI 2.254-16.558). Conclusion: PACS-related cardiopulmonary symptoms 90 days post-discharge are common and multifactorial. Beyond thrombotic and markers of inflammation/myocardial injury during hospitalization, female sex and depression were independently associated with cardiopulmonary-related PACS. These results highlighted the need for a multifaceted approach targeting susceptible patients.
- Insomnia symptoms during the covid-19 a case-control(2023) BACELAR, Andrea; CONWAY, Silvia Goncalves; ASSIS, Marcia; SILVA, Victor Menezes; GENTA, Pedro Rodrigues; PACHITO, Daniela Vianna; TAVARES JUNIOR, Almir Ribeiro; SGUILLAR, Danilo Anunciatto; MOREIRA, Gustavo Antonio; DRAGER, Luciano Ferreira; MORENO, Claudia Roberta de CastroOBJECTIVE: To identify lifestyle-related, sociodemographic, and mental health characteristics of people with insomnia symptoms and people without insomnia during the pandemic. METHODS: A case-control study was conducted with data collected by snowball sampling using an online questionnaire. From November 2020 to April 2021, 6,360 people with a mean age of 43.5 years (SD = 14.3) participated in the survey. For this study, we considered 158 cases of insomnia disorder and 476 controls (three controls per case) randomly selected from the participants without sleep problems. RESULTS: The results of the comparative analysis between cases and controls showed that sleeping less than six hours daily (OR = 3.89; 95%CI 2.50-6.05), feeling sadness frequently (OR = 2.95; 95%CI 1.69-5.17), residing in metropolitan areas (OR = 1.71; 95%CI 1.04-2.84), being 40 years or older (OR = 1.93; 95%CI 1.22-3.06), and the interaction between occupation and poorer education (OR = 2.12; 95%CI 1.22-3.69) were predictors for symptoms of insomnia disorder during the pandemic. CONCLUSIONS: In addition to confirming the hypothesis that mental health problems are associated with insomnia symptoms, the results point to insomnia as an important outcome for studies on the effects of unemployment, vulnerability and low education of the population, especially in large cities, highlighting that the effects of the crisis on health and the economy are extremely unequally distributed. DESCRIPTORS: Sleep Initiation and Maintenance Disorders, epidemiology. Risk Factors. Socioeconomic Factors. Case-Control Studies. COVID-19.
- Task Accomplished Promising Effects of a New Antagonist in OSA(2023) GENTA, Pedro R.; TARANTO-MONTEMURRO, Luigi
- Intra-individual Variability of Serum Aldosterone and Implications for Primary Aldosteronism Screening(2023) MACIEL, Ana Alice W.; FREITAS, Thais C.; FAGUNDES, Gustavo F. C.; PETENUCI, Janaina; VILELA, Leticia A. P.; BRITO, Luciana P.; GOLDBAUM, Tatiana S.; ZERBINI, Maria Claudia N.; LEDESMA, Felipe L.; TANNO, Fabio Y.; SROUGI, Victor; CHAMBO, Jose L.; PEREIRA, Maria Adelaide A.; COELHO, Fernando M. A.; CAVALCANTE, Aline C. B. S.; CARNEVALE, Francisco C.; PILAN, Bruna; PIO-ABREU, Andrea; V, Joao Silveira; CONSOLIM-COLOMBO, Fernanda M.; BORTOLOTTO, Luiz A.; LATRONICO, Ana Claudia; V, Maria Candida B. Fragoso; DRAGER, Luciano F.; MENDONCA, Berenice B.; ALMEIDA, Madson Q.Context Primary aldosteronism (PA) screening relies on an elevated aldosterone to renin ratio with a minimum aldosterone level, which varies from 10 to 15 ng/dL (277-415.5 pmol/L) using immunoassay. Objective To evaluate intra-individual coefficient of variation (CV) of aldosterone and aldosterone to direct renin concentration ratio (A/DRC) and its impact on PA screening. Methods A total of 671 aldosterone and DRC measurements were performed by the same chemiluminescence assays in a large cohort of 216 patients with confirmed PA and at least 2 screenings. Results The median intra-individual CV of aldosterone and A/DRC was 26.8% and 26.7%. Almost 40% of the patients had at least one aldosterone level <15 ng/dL, 19.9% had at least 2 aldosterone levels <15 ng/dL, and 16.2% had mean aldosterone levels <15 ng/dL. A lower cutoff of 10 ng/dL was associated with false negative rates for PA screening of 14.3% for a single aldosterone measurement, 4.6% for 2 aldosterone measurements, and only 2.3% for mean aldosterone levels. Considering the minimum aldosterone, true positive rate of aldosterone thresholds was 85.7% for 10 ng/dL and 61.6% for 15 ng/dL. An A/DRC >2 ng/dL/mu IU/mL had a true positive rate for PA diagnosis of 94.4% and 98.4% when based on 1 or 2 assessments, respectively. CV of aldosterone and A/DRC were not affected by sex, use of interfering antihypertensive medications, PA lateralization, hypokalemia, age, and number of hormone measurements. Conclusion Aldosterone concentrations had a high CV in PA patients, which results in an elevated rate of false negatives in a single screening for PA. Therefore, PA screening should be based on at least 2 screenings with concomitant aldosterone and renin measurements.