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1.
Article in English | MEDLINE | ID: mdl-39292629

ABSTRACT

BACKGROUND: Aldosterone excess chronically induces oxidative stress and cell proliferation. Previously, a single study investigated primary aldosteronism (PA) in patients with papillary thyroid cancer (PTC), albeit without a matched control group. METHODS: We conducted a propensity score matched case-control study to investigate the association between PA and PTC in individuals with arterial hypertension (HT). PA was investigated in 137 patients with PTC and HT. The control group included 137 (1:1) age, sex-, and body mass index (BMI)-matched individuals with HT. We conducted a secondary analysis in which the controls were also matched according to HT stage. RESULTS: The prevalence of PA was 29.20% (95% confidence interval [CI], 21.91%-37.68%) in the PTC group and 20.44% (95% CI, 14.22%-28.35%) in the controls not matched for HT stage (p = 0.093). Although the PA prevalence was similar in both groups, the frequency of severe HT (stage III or resistant) was significantly lower in the PTC group (23%) compared to the hypertensive controls (73%, p < 0.001). After matching the controls by HT stage, the prevalence of PA in the PTC group was significantly higher compared to the hypertensive controls (9.56%; 95% CI, 5.39%-16.1%, p < 0.0001). In the multivariable analysis, PTC was independently associated with PA in both unmatched hypertensive individuals (odds ratio [OR] 4.74; 95% CI, 2.26-10.55; p< 0.001) and in those matched for HT stage (OR 5.88, 95% CI, 2.79-13.37; p< 0.001). CONCLUSION: PTC was an independent variable associated with a diagnosis of PA in hypertensive individuals. Therefore, we propose the association between PTC and HT as a new recommendation for PA screening regardless of HT severity.

2.
Sleep Med ; 123: 37-41, 2024 Nov.
Article in English | MEDLINE | ID: mdl-39236463

ABSTRACT

INTRODUCTION: COVID-19 infection has resulted in a high prevalence of a post-infectious syndrome, known as post-acute sequelae of SARS-CoV-2 (PASC) or "Long COVID". PASC is a heterogeneous disease with a high prevalence of sleep disturbances, varying from an insomnia disorder to excessive daytime sleepiness. METHODS: Patients seen in the Covid Survivorship Program at the Beth Israel Deaconess Medical Center Boston, USA, were screened for sleep disorders as part of a comprehensive multi-system evaluation. Those who screened positive were referred for a comprehensive sleep evaluation in a dedicated COVID-19-Sleep clinic, followed by diagnostic sleep testing and treatment. This report summarizes patients who completed an American Academy of Sleep Medicine (AASM) accredited facility-based diagnostic evaluation. International Classification of Sleep Disorders 3rd Edition-Revised criteria were met for all diagnoses. RESULTS: In 42 patients with PASC, five categories of sleep disorder syndromes were observed following a sleep clinic evaluation, including obstructive sleep apnea, chronic insomnia disorder, primary hypersomnia, REM behavior disorder (RBD), and new onset circadian phase delay. Seven patients met criteria for idiopathic hypersomnia, and two had narcolepsy type 2. RBD patients were infected in three different waves; circadian disturbance patients were all infected in the winter wave of 2020/21, and the primary hypersomnolence group occurred during all waves, predominantly the initial wave of 2020. A peculiar form of insomnia was a persistent loss of sleep regularity. CONCLUSIONS: Specific sleep symptoms/syndromes are reported in this select group of patients with PASC/Long Covid. As new onset sleep complaints are prevalent in PASC, we recommend a complete clinical and investigative sleep evaluation for persistent severe sleep symptoms following COVID-19 infection.


Subject(s)
COVID-19 , Post-Acute COVID-19 Syndrome , Sleep Wake Disorders , Humans , COVID-19/complications , COVID-19/diagnosis , COVID-19/epidemiology , Male , Female , Middle Aged , Sleep Wake Disorders/epidemiology , Sleep Wake Disorders/etiology , Sleep Wake Disorders/diagnosis , Adult , Aged , Sleep Initiation and Maintenance Disorders/etiology , Sleep Initiation and Maintenance Disorders/diagnosis , SARS-CoV-2 , Disorders of Excessive Somnolence/etiology , Disorders of Excessive Somnolence/diagnosis
3.
Front Endocrinol (Lausanne) ; 15: 1346052, 2024.
Article in English | MEDLINE | ID: mdl-38686210

ABSTRACT

For pheochromocytoma and paraganglioma (PPGL), the efficacy of percutaneous ablative therapies in achieving control of metastatic tumors measuring <3 cm had been demonstrated in only few reports, and intraoperative radiofrequency ablation (RFA) of locally invasive primary PPGLs has not been reported. We presented the case of a 31-year-old man who had a 9-cm functioning unresectable PPGL. He was treated with 13 cycles of cytotoxic chemotherapy without objective tumor response, according to the Response Evaluation Criteria in Solid Tumors (RECIST). Subsequently, magnetic resonance imaging revealed a 9.0 × 8.6 × 6.0-cm retroperitoneal mass that extended to the inferior portion of the inferior vena cava, the inferior mesenteric artery, and the infrarenal aorta. Biochemical evaluation demonstrated high level of plasma normetanephrine (20.2 nmol/L, normal range <0.9 nmol/L). Genetic investigation showed the germline pathogenic variant c.1591delC (p. Ser198Alafs*22) in the SDHB gene. I131-metaiodobenzylguanidine scintigraphy was negative and Ga68-dotatate PET-CT scan showed high tumor uptake without distant metastases. On open laparotomy, tumor debulking was not possible. Therefore, intraoperative RFA was performed by a highly experienced team of interventional radiologists. At 12 months after the RFA, the tumor volume decreased from 208 to 45 mL (78%), plasma normetanephrine decreased from 20.2 to 2.6 nmol/L (87%), and the doxazosin dose was reduced from 16 to 8 mg/day. To our best knowledge, this was the first report on intraoperative RFA that markedly reduced the size of a large primary unresectable PPGL, along with clinical and biochemical responses.


Subject(s)
Paraganglioma , Radiofrequency Ablation , Humans , Male , Adult , Paraganglioma/surgery , Paraganglioma/diagnostic imaging , Paraganglioma/pathology , Radiofrequency Ablation/methods , Abdominal Neoplasms/surgery , Abdominal Neoplasms/diagnostic imaging , Abdominal Neoplasms/pathology , Retroperitoneal Neoplasms/surgery , Retroperitoneal Neoplasms/diagnostic imaging , Retroperitoneal Neoplasms/pathology
4.
J Clin Endocrinol Metab ; 109(9): 2282-2293, 2024 Aug 13.
Article in English | MEDLINE | ID: mdl-38442744

ABSTRACT

CONTEXT: The role of hormone parameters at adrenal venous sampling (AVS) in predicting clinical and biochemical outcomes remains controversial. OBJECTIVE: To investigate the impact of hormone parameters at AVS under cosyntropin stimulation on lateralization and on complete biochemical and clinical outcomes. METHODS: We retrospectively evaluated 150 sequential AVS under cosyntropin infusion. The bilateral successful cannulation rate was 83.3% (n = 140), 47.9% bilateral and 52.1% unilateral. The lateralization index, aldosterone/cortisol ratio (A/C) in the dominant adrenal vein (AV), and relative aldosterone secretion index (RASI = A/C in AV divided by A/C in inferior vena cava) were assessed. The contralateral suppression (CS) percentage was defined by (1 - nondominant RASI) * 100. RESULTS: A nondominant RASI <0.5 (CS >50%) had 86.84% sensitivity and 92.96% specificity to predict contralateral lateralization. An A/C ratio in dominant AV >5.9 (74.67% sensitivity and 80% specificity) and dominant RASI >4.7 (35.21% sensitivity and 88.06% specificity) had the worst performance to predict ipsilateral lateralization. Complete biochemical and clinical cure was significantly more frequent in the patients with CS >50% [98.41% vs 42.86% (P < .001) and 41.94% vs 0% (P < .001)]. CS correlated with high aldosterone at diagnosis (P < .001) and low postoperative aldosterone levels at 1 month (P = .019). Postoperative biochemical hypoaldosteronism was more frequent in patients with CS >50% (70% vs 16.67%, P = .014). In multivariable analysis, a CS >50% was associated with complete biochemical cure [odds ratio (OR) 125, 95% confidence interval (CI) 11.904-5000; P = .001] and hypertension remission (OR 12.19, 95% CI 2.074-250; P = .023). CONCLUSION: A CS >50% was an independent predictor of complete clinical and biochemical cure. Moreover, it can predict unilateral primary aldosteronism and postoperative biochemical hypoaldosteronism. Our findings underscore the usefulness of CS for clinical decision-making.


Subject(s)
Adrenal Glands , Aldosterone , Cosyntropin , Hydrocortisone , Hyperaldosteronism , Humans , Hyperaldosteronism/blood , Hyperaldosteronism/diagnosis , Hyperaldosteronism/surgery , Male , Female , Middle Aged , Retrospective Studies , Adrenal Glands/blood supply , Adrenal Glands/metabolism , Aldosterone/blood , Cosyntropin/administration & dosage , Adult , Hydrocortisone/blood , Prognosis , Veins , Blood Specimen Collection/methods , Aged
5.
J Clin Endocrinol Metab ; 108(8): 2105-2114, 2023 Jul 14.
Article in English | MEDLINE | ID: mdl-36652439

ABSTRACT

CONTEXT: Limited information is available concerning the genetic spectrum of pheochromocytoma and paraganglioma (PPGL) patients in South America. Germline SDHB large deletions are very rare worldwide, but most of the individuals harboring the SDHB exon 1 deletion originated from the Iberian Peninsula. OBJECTIVE: Our aim was to investigate the spectrum of SDHB genetic defects in a large cohort of Brazilian patients with PPGLs. METHODS: Genetic investigation of 155 index PPGL patients was performed by Sanger DNA sequencing, multiplex ligation-dependent probe amplification, and/or target next-generation sequencing panel. Common ancestrality was investigated by microsatellite genotyping with haplotype reconstruction, and analysis of deletion breakpoint. RESULTS: Among 155 index patients, heterozygous germline SDHB pathogenic or likely pathogenic variants were identified in 22 cases (14.2%). The heterozygous SDHB exon 1 complete deletion was the most frequent genetic defect in SDHB, identified in 8 out of 22 (36%) of patients. Haplotype analysis of 5 SDHB flanking microsatellite markers demonstrated a significant difference in haplotype frequencies in a case-control permutation test (P = 0.03). More precisely, 3 closer/informative microsatellites were shared by 6 out of 8 apparently unrelated cases (75%) (SDHB-GATA29A05-D1S2826-D1S2644 | SDHB-186-130-213), which was observed in only 1 chromosome (1/42) without SDHB exon 1 deletion (X2 = 29.43; P < 0.001). Moreover, all cases with SDHB exon 1 deletion had the same gene breakpoint pattern of a 15 678 bp deletion previously described in the Iberian Peninsula, indicating a common origin. CONCLUSION: The germline heterozygous SDHB exon 1 deletion was the most frequent genetic defect in the Brazilian PPGL cohort. Our findings demonstrated a founder effect for the SDHB exon 1 deletion in Brazilian patients with paragangliomas.


Subject(s)
Adrenal Gland Neoplasms , Paraganglioma , Pheochromocytoma , Humans , Succinate Dehydrogenase/genetics , Founder Effect , Brazil/epidemiology , Paraganglioma/genetics , Paraganglioma/pathology , Pheochromocytoma/genetics , Exons/genetics , Adrenal Gland Neoplasms/genetics , Germ-Line Mutation
6.
J Clin Endocrinol Metab ; 108(5): 1143-1153, 2023 04 13.
Article in English | MEDLINE | ID: mdl-36413507

ABSTRACT

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/µIU/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.


Subject(s)
Hyperaldosteronism , Hypertension , Humans , Aldosterone , Hyperaldosteronism/diagnosis , Renin , Immunoassay/methods , Blood Pressure
8.
BMC Neurol ; 22(1): 439, 2022 Nov 18.
Article in English | MEDLINE | ID: mdl-36401198

ABSTRACT

BACKGROUND: Narcolepsy type 1 (NT1) is a rare and chronic neurological disease characterized by sudden sleep attacks, overwhelming daytime drowsiness, and cataplexy. When associated with a sudden loss of muscle tone (cataplexy) narcolepsy is classified as type 1, while the absence of cataplexy indicates type 2. Genetic, degenerative, and immunological hypotheses to explain the pathophysiology of NT1 are still a matter of debate. To contribute to the understanding of NT1 genetic basis, here we describe, for the first time, a whole genome analysis of a monozygotic twin pair discordant for NT1. CASE PRESENTATION: We present the case of a pair of 17-year-old male, monozygotic twins discordant for NT1. The affected twin had Epworth Sleepiness Scale (ESS) of 20 (can range from 0 to 24), cataplexy, hypnagogic hallucinations, polysomnography without abnormalities, multiple sleep latency tests (MSLT) positive for narcolepsy, a mean sleep latency of 3 min, sleep-onset REM periods SOREMPs of 5, presence of allele HLA-DQB1*06:02, and Hypocretin-1 level of zero pg/mL (normal values are > 200 pg/mL). The other twin had no narcolepsy symptoms (ESS of 4), normal polysomnography, MSLT without abnormalities, presence of allele HLA-DQB1*06:02, and Hypocretin-1 level of 396,74 pg/mL. To describe the genetic background for the NT1 discordant manifestations in this case, we present the whole-genome analysis of this monozygotic twin pair. The whole-genome comparison revealed that both twins have identical NT1 pathogenic mutations in known genes, such as HLA-DQB1*06:02:01, HLA-DRB1*11:01:02/*15:03:01. The affected twin has the expected clinical manifestation while the unaffected twin has an unexpected phenotype. The unaffected twin has significantly more frameshift mutations as compared to the affected twin (108 versus 75) and mutations that affect stop codons (61 versus 5 in stop gain, 26 versus 2 in start lost). CONCLUSIONS: The differences observed in frameshift and stop codon mutations in the unaffected twin are consistent with loss-of-function effects and protective alleles, that are almost always associated with loss-of-function rare alleles. Also, overrepresentation analysis of genes containing variants with potential clinical relevance in the unaffected twin shows that most mutations are in genes related to immune regulation function, Golgi apparatus, MHC, and olfactory receptor. These observations support the hypothesis that NT1 has an immunological basis although protective mutations in non-HLA alleles might interfere with the expression of the NT1 phenotype and consequently, with the clinical manifestation of the disease.


Subject(s)
Cataplexy , Narcolepsy , Male , Humans , Orexins , Brazil , Narcolepsy/diagnosis , Narcolepsy/genetics , Polysomnography
9.
Adv Rheumatol ; 62(1): 28, 2022 07 25.
Article in English | MEDLINE | ID: mdl-35879743

ABSTRACT

BACKGROUND: The observation that 2-deoxy-2[18F]fluoro-D-glucose-positron emission tomography/magnetic resonance imaging ([18F]F-FDG-PET/MRI) revealed high-grade arterial wall FDG uptake, without arterial wall thickening with contrast-enhancement, in a considerable number of c-TA patients in our previous study, encouraged us to compare patients with both PET and MR angiography (MRA) positives, with those with PET positive but MRA negative. Our aim was to evaluate the relevance of these two imaging modalities together. METHODS: A three-center cross-sectional study with 17 patients who fulfilled the EULAR/PRINTO/PReS criteria for c-TA and who underwent [18F]F-FDG-PET/MRI was previously performed. Herein we compared patients/vessels with positive PET (arterial wall 18F-FDG uptake higher than liver) and positive MRA (arterial wall thickening with contrast-enhancement)-group 1, with those with positive PET but negative MRA-group 2. RESULTS: Median disease duration of 17 c-TA patients was 10.4 years. Nine patients were classified as group 1 and six as group 2. Median of metabolic inflammatory volume (MIV) of all arterial segments was significantly higher in group 1 (2346 vs. 1177 cm3; p = 0.036). Fifty-four (19%) from 284 available arterial segments presented positive findings in vessel wall in one or both images. Positive findings were concordant between PET and MRA in only 13% arterial segments (group 1); most changes (28-59.6%) that were discordant between both images, were positive in PET and negative in MRA (group 2). CONCLUSION: Our study demonstrated that [18F]F-FDG-PET/MRI added information about inflammation in vessel wall of c-TA patients. Prospective multicenter studies are needed in order to get solid data to guide immunosuppressive tapering and withdrawal.


Subject(s)
Fluorodeoxyglucose F18 , Takayasu Arteritis , Cross-Sectional Studies , Humans , Magnetic Resonance Imaging/methods , Positron-Emission Tomography/methods , Prospective Studies , Takayasu Arteritis/diagnostic imaging
10.
Adv Rheumatol ; 62: 28, 2022. tab
Article in English | LILACS-Express | LILACS | ID: biblio-1393814

ABSTRACT

Abstract Background: The observation that 2-deoxy-2[18F]fluoro-D-glucose-positron emission tomography/magnetic resonance imaging ([18F]F-FDG-PET/MRI) revealed high-grade arterial wall FDG uptake, without arterial wall thickening with contrast-enhancement, in a considerable number of c-TA patients in our previous study, encouraged us to compare patients with both PET and MR angiography (MRA) positives, with those with PET positive but MRA negative. Our aim was to evaluate the relevance of these two imaging modalities together. Methods: A three-center cross-sectional study with 17 patients who fulfilled the EULAR/PRINTO/PReS criteria for c-TA and who underwent [18F]F-FDG-PET/MRI was previously performed. Herein we compared patients/vessels with positive PET (arterial wall 18F-FDG uptake higher than liver) and positive MRA (arterial wall thickening with contrast-enhancement)—group 1, with those with positive PET but negative MRA—group 2. Results: Median disease duration of 17 c-TA patients was 10.4 years. Nine patients were classified as group 1 and six as group 2. Median of metabolic inflammatory volume (MIV) of all arterial segments was significantly higher in group 1 (2346 vs. 1177 cm3; p = 0.036). Fifty-four (19%) from 284 available arterial segments presented positive findings in vessel wall in one or both images. Positive findings were concordant between PET and MRA in only 13% arterial segments (group 1); most changes (28-59.6%) that were discordant between both images, were positive in PET and negative in MRA (group 2). Conclusions: Our study demonstrated that [18F]F-FDG-PET/MRI added information about inflammation in vessel wall of c-TA patients. Prospective multicenter studies are needed in order to get solid data to guide immunosuppressive tapering and withdrawal.

11.
Braz. J. Psychiatry (São Paulo, 1999, Impr.) ; 42(3): 314-316, May-June 2020. tab
Article in English | LILACS | ID: biblio-1132086

ABSTRACT

Objective: To report the successful use of lisdexamfetamine in the management of narcolepsy. Methods: Five narcoleptic patients received lisdexamfetamine, at different dosages and for different periods, for management of excessive daytime sleepiness and weight control. Results: All patients experienced improvement of excessive daytime sleepiness and lost weight without side effects. Conclusion: Lisdexamfetamine appears promising for the treatment of two of the most common symptoms of narcolepsy: excessive daytime sleepiness and weight gain.


Subject(s)
Weight Gain/drug effects , Weight Loss/drug effects , Lisdexamfetamine Dimesylate/therapeutic use , Sleepiness , Central Nervous System Stimulants/therapeutic use , Narcolepsy/drug therapy , Time Factors , Retrospective Studies , Treatment Outcome , Middle Aged
12.
Braz J Psychiatry ; 42(3): 314-316, 2020.
Article in English | MEDLINE | ID: mdl-31859793

ABSTRACT

OBJECTIVE: To report the successful use of lisdexamfetamine in the management of narcolepsy. METHODS: Five narcoleptic patients received lisdexamfetamine, at different dosages and for different periods, for management of excessive daytime sleepiness and weight control. RESULTS: All patients experienced improvement of excessive daytime sleepiness and lost weight without side effects. CONCLUSION: Lisdexamfetamine appears promising for the treatment of two of the most common symptoms of narcolepsy: excessive daytime sleepiness and weight gain.


Subject(s)
Central Nervous System Stimulants/therapeutic use , Lisdexamfetamine Dimesylate/therapeutic use , Narcolepsy/drug therapy , Sleepiness , Weight Gain/drug effects , Weight Loss/drug effects , Adult , Female , Humans , Male , Middle Aged , Retrospective Studies , Time Factors , Treatment Outcome , Young Adult
13.
Sleep Sci ; 12(2): 79-87, 2019.
Article in English | MEDLINE | ID: mdl-31879539

ABSTRACT

OBJECTIVES: Musculoskeletal (MSK) pain and hypersomnolence (HPS) are very disabling conditions that may share some pathophysiological factors. This study aimed to evaluate the interaction between MSK pain and HPS and its association with mood symptoms, fatigue, quality of life, and both objective and subjective sleep quality. DESIGN: Cross-sectional study. SETTING: General population based sample. PARTICIPANTS: 510 individuals from EPISONO cohort, São Paulo (Brazil). MEASUREMENTS: All participants completed questionnaires, had clinical assessment and underwent a full-night polysomnography. HPS was defined according to Epworth Sleepiness Scale while the presence of MSK pain was defined by structured questionnaire. The sample was allocated into 4 groups: control (CTRL, n=281), HPS (n=141), MSK (n=50), and both conditions (HPS+MSK, n=38). RESULTS: MSK pain and HPS by themselves were associated with worse mood symptoms and quality of life. However, individuals with both associated conditions (HPS+MSK) presented higher frequencies of moderate to severe depression (44.1%) and anxiety symptoms (45.7%), as well as an additional decrease in quality of life compared to the other groups. There were no differences between HPS+MSK and MSK groups in objective sleep pattern. With regard to subjective sleep, HPS+MSK presented a higher prevalence of sleep attacks and cataplexy compared to all other groups. CONCLUSIONS: The combination of MSK pain and HPS was associated with worse mood symptoms, quality of life and HPS-related features. This study suggests that sleepiness may be an important symptom to be investigated and treated in MSK pain-related conditions for a better quality of life.

14.
Hemodial Int ; 23(4): 445-448, 2019 10.
Article in English | MEDLINE | ID: mdl-31579966

ABSTRACT

INTRODUCTION: Restless legs syndrome (RLS) is a highly prevalent sleep movement disorder usually accompanied by periodic limb movements of sleep (PLMS). The incidence of RLS and PLMS in patients with end-stage renal disease (ESRD) on dialysis is much higher. Clinically, RLS and PLMS can co-occur. We hypothesized that patients with ESRD on dialysis would have a distinct presentation of RLS, with a higher prevalence of PLMS. METHODS: We examined clinical, demographic, biochemical, and polysomnographic characteristics of RLS in patients on dialysis matched to control subjects with normal renal function based on age, sex, body mass index, and frequency of apneas and hypopneas per hour of sleep, defined by the apnea and hypopnea index (AHI), in a proportion of 3:1. Patients with ESRD were on hemodialysis three times per week. Polysomnography was performed overnight in the sleep laboratory. FINDINGS: Patients on dialysis compared to control subjects had a lower amount of N3 sleep (77.6 ± 39.9 minutes vs. 94.8 ± 33.7 minutes, p = 0.037) and REM sleep (55.6 ± 27.5 minutes vs. 74.1 ± 28.4 minutes, p = 0.006), regardless of the presence of RLS. Among the patients on dialysis, those with RLS had higher PLMS. In the control group, patients with RLS had a lower ferritin level, which was not observed in the dialysis group. There was a significant interaction between PLMS and ESRD (p = 0.001), with a higher prevalence of PLMS in patients with ESRD on dialysis in a model adjusted for AHI, sex, arousals, and age. Factors that were associated with PLMS were RLS (p = 0.003), ESRD (p = 0.0001), and AHI (p = 0.041), with an adjusted R2 of 0.321. CONCLUSION: RLS in patients with ESRD on dialysis is independently associated with PLMS, regardless of the severity of sleep apnea, arousals, and age.


Subject(s)
Polysomnography/methods , Renal Dialysis/adverse effects , Restless Legs Syndrome/etiology , Sleep Wake Disorders/etiology , Female , Humans , Male , Middle Aged , Renal Dialysis/methods , Restless Legs Syndrome/pathology , Sleep Wake Disorders/pathology
16.
J Sleep Res ; 28(3): e12715, 2019 06.
Article in English | MEDLINE | ID: mdl-29923259

ABSTRACT

Narcolepsy is a rare sleep disorder classified in types 1 and 2. The co-morbidities of narcolepsy type 1, with hypocretin-1 deficiency, are established. Hypocretin-1 in the central and peripheral nervous systems regulates nociception and pain. However, the patients with narcolepsy type 2 have similar excessive daytime sleepiness and co-morbidities without elucidation. The objective of the study was to determine the frequency and the characteristic of chronic pain according to the type of narcolepsy. We also investigated the effect of the interaction between the nutritional status and the type of narcolepsy. It was a cross-sectional study using self-administered questionnaires. Patients with narcolepsy (33 type 1 and 33 type 2), from Universidade Federal de São Paulo, Brazil, matched by age and gender to 33 control subjects were included. Both types of narcolepsy presented a high frequency of chronic pain (84.84% type 1 versus 75.75% type 2), with indistinct pain characteristics between them. The odds ratio was 20.8 in type 1 and 11.6 in type 2, compared with controls. Obese individuals with narcolepsy type 1 and type 2 did not present a significant difference in pain intensity, compared with obese controls. Patients with narcolepsy type 1 and type 2 were associated with a high frequency of chronic pain. Chronic pain emerged as a co-morbidity never reported before in type 2. Depression possibly influences pain perception in these patients. Obesity might play a role in pain intensity in narcolepsy. The treatment of narcolepsy should take account of chronic pain, depression and obesity management.


Subject(s)
Chronic Pain/etiology , Narcolepsy/complications , Orexins/metabolism , Adult , Comorbidity , Cross-Sectional Studies , Female , Humans , Male , Surveys and Questionnaires
17.
Front Med (Lausanne) ; 4: 57, 2017.
Article in English | MEDLINE | ID: mdl-28580357

ABSTRACT

INTRODUCTION: Obstructive sleep apnea (OSA) is common in edematous states, notably in hemodialysis patients. In this population, overnight fluid shift can play an important role on the pathogenesis of OSA. The effect of compression stockings (CS) and continuous positive airway pressure (CPAP) on fluid shift is barely known. We compared the effects of CS and CPAP on fluid dynamics in a sample of patients with OSA in hemodialysis, through a randomized crossover study. METHODS: Each participant performed polysomnography (PSG) at baseline, during CPAP titration, and after 1 week of wearing CS. Neck circumference (NC) and segmental bioelectrical impedance were done before and after PSG. RESULTS: Fourteen patients were studied (53 ± 9 years; 57% men; body mass index 29.7 ± 6.8 kg/m2). Apnea-hypopnea index (AHI) decreased from 20.8 (14.2; 39.6) at baseline to 7.9 (2.8; 25.4) during CPAP titration and to 16.7 (3.5; 28.9) events/h after wearing CS (CPAP vs. baseline, p = 0.004; CS vs. baseline, p = 0.017; and CPAP vs. CS, p = 0.017). Nocturnal intracellular trunk water was higher after wearing CS in comparison to baseline and CPAP (p = 0.03). CS reduced the fluid accumulated in lower limbs during the day, although not significantly. Overnight fluid shift at baseline, CPAP, and CS was -183 ± 72, -343 ± 220, and -290 ± 213 ml, respectively (p = 0.006). Overnight NC increased at baseline (0.7 ± 0.4 cm), decreased after CPAP (-1.0 ± 0.4 cm), and while wearing CS (-0.4 ± 0.8 cm) (CPAP vs. baseline, p < 0.0001; CS vs. baseline, p = 0.001; CPAP vs. CS, p = 0.01). CONCLUSION: CS reduced AHI by avoiding fluid retention in the legs, favoring accumulation of water in the intracellular component of the trunk, thus avoiding fluid shift to reach the neck. CPAP improved OSA by exerting local pressure on upper airway, with no impact on fluid redistribution. CPAP performed significantly better than CS for both reduction of AHI and overnight reduction of NC. Complementary studies are needed to elucidate the mechanisms by which CPAP and CS reduce NC.

19.
J Sleep Res ; 25(6): 720-723, 2016 12.
Article in English | MEDLINE | ID: mdl-27377205

ABSTRACT

Spinocerebellar ataxia type 6 (SCA6) is usually described as a pure ataxia syndrome. However, SCA6 patients may have sleep complaints. In this paper, sleep disorders were investigated in patients with SCA6. Twelve SCA6 patients and 12 subjects matched by gender, age and body mass index (control group) underwent polysomnography and clinical investigation for sleep disorders. SCA6 had a higher frequency of snoring (P = 0.01), a higher index of awakening due to respiratory events (P = 0.003) and central apnea events during sleep (P = 0.024), a longer sleep Stage N1 (P = 0.02) and a lower sleep Stage N3 (P = 0.05) in SCA6 patients than in control subjects. SCA6 patients had a reduction in slow wave sleep and a higher frequency of snoring and respiratory disorders during sleep when compared to the control group.


Subject(s)
Polysomnography , Sleep Apnea, Central/complications , Sleep Wake Disorders/complications , Sleep Wake Disorders/physiopathology , Snoring/complications , Spinocerebellar Ataxias/complications , Spinocerebellar Ataxias/physiopathology , Body Mass Index , Case-Control Studies , Female , Humans , Male , Middle Aged , Respiration , Sleep Apnea, Central/physiopathology , Sleep Stages , Snoring/physiopathology , Wakefulness
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