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1.
Nurs Crit Care ; 27(2): 240-250, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35052015

RESUMO

BACKGROUND: Patients treated in intensive care units (ICUs) experience life-threatening medical conditions but some external factors in ICUs do not help or even adversely affect and complicate their evolution. Among others, such factors include noise pollution due to alarms and medical clinical equipment, as well as the activities of the health care personnel themselves. AIM: This study aimed to evaluate the influence of elevated sound levels on physiological variables and the consciousness state of patients treated in a cardiovascular area in an ICU. DESIGN: A longitudinal study with several observations was carried out during 1 month in the cardiovascular area of an ICU of a third-level hospital in southern Spain. METHODS: Sound levels were monitored in different work shifts and patients' physiological data and consciousness status were recorded. Generalized additive mixed models (GAMMs) were developed to detect the variability of the sound levels together with the vital parameters of the patients in the ICU. RESULTS: Thirty-eight patients were included. The mean sound level was 54.09 dBA. The GAMM sound levels analysis showed a significant increase in sound levels from 4:30 p.m. to 8:00 p.m. (1.83 dBA; P < .001) and 8:00 p.m. to 11:30 p.m. (3.06 dBA; P < .001). An increase in heart rate (3.66 bpm; P < .001), respiratory rate (2.62 rpm; P < .001) and the Glasgow Coma Scale (0.50 units; P = .002) was detected during the 4:30 p.m.-8:30 p.m. CONCLUSIONS: Elevated sound levels in cardiovascular ICUs seem to influence positively the physiological and consciousness status of patients. Given the importance of the findings for patient safety, future intervention studies are recommended. RELEVANCE TO CLINICAL PRACTICE: The finding of this study could translate into structural changes in ICU facilities, as well as the development of clinical practice guidelines that influence the behaviour of health care professionals.


Assuntos
Estado de Consciência , Unidades de Terapia Intensiva , Escala de Coma de Glasgow , Humanos , Estudos Longitudinais , Ruído/efeitos adversos
2.
Int J Nurs Pract ; 26(5): e12853, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32453480

RESUMO

AIMS: Our study examined factors influencing the development of healthcare-associated infections in the intensive care unit (ICU) of a tertiary hospital in southern Spain. BACKGROUND: Healthcare-associated infections are a frequent adverse event, significantly lengthening patient stays in the ICU. Nursing practice is a key factor in the infection control process. DESIGN: A retrospective longitudinal study with two observation periods (admission and discharge) was performed in an ICU of a tertiary hospital. METHODS: We analysed patient records for those admitted to this unit coded as CIE 800-959.9 from 2012 to 2016. Using binomial logistic regression analysis, we analysed factors associated with healthcare-associated infections. RESULTS: We analysed 375 records (men: 78.1%; average age: 46.63 years). Of these, 9.2% patients acquired a healthcare-associated infection during their stay. Nursing practice-related factors significantly associated with the development of infection were the number of days connected to mechanical ventilation and the number of days in the ICU. CONCLUSION: Healthcare-associated infections in patients with severe trauma admitted to the ICU are mainly associated with the management of invasive techniques. A multidisciplinary approach should focus on the review of action and care plans.


Assuntos
Infecção Hospitalar/etiologia , Ferimentos e Lesões/complicações , Adulto , Feminino , Hospitalização , Humanos , Controle de Infecções , Unidades de Terapia Intensiva/organização & administração , Tempo de Internação , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Alta do Paciente , Respiração Artificial/efeitos adversos , Estudos Retrospectivos , Fatores de Risco , Espanha
3.
PLoS One ; 19(8): e0302415, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39116061

RESUMO

Cognitive difficulties are reported as lasting sequelae within post COVID-19 condition. However, the chronicity of these difficulties and related factors of fatigue, mood, and perceived health have yet to be fully determined. To address this, the current longitudinal study aimed to clarify the trends of cognitive test performance and cognitive domain impairment following COVID-19 onset, and whether hospitalization influences outcomes. 57 participants who reported subjective cognitive difficulties after confirmed COVID-19 infection were assessed at baseline (~6 months post COVID-19) and follow-up (~15 months later) visits. Assessments included measures across multiple cognitive domains and self-report questionnaires of fatigue, mood, and overall health. Analyses were conducted in three stages: at the test score level (raw and adjusted scores), at the cognitive domain level, and stratified by hospitalization status during infection. Results at the test-score level indicate that cognitive performance remains relatively stable across assessments at the group level, with no significant improvements in any adjusted test scores at follow-up. Cognitive domain analyses indicate significant reductions in attention and executive functioning impairment, while memory impairment is slower to resolve. On self-report measures, there was a significant improvement in overall health ratings at follow-up. Finally, those hospitalized during infection performed worse on timed cognitive measures across visits and accounted for a larger proportion of cases with short-term and working memory impairment at follow-up. Overall, our findings indicate that cognitive difficulties persist both at test score and cognitive domain levels in many cases of post COVID-19 condition, but evidence suggests some improvement in global measures of attention, executive functioning and overall self-rated health. Furthermore, an effect of hospitalization on cognitive symptoms post COVID-19 may be more discernible over time.


Assuntos
COVID-19 , Disfunção Cognitiva , Testes Neuropsicológicos , Humanos , COVID-19/psicologia , COVID-19/epidemiologia , COVID-19/complicações , Masculino , Feminino , Pessoa de Meia-Idade , Seguimentos , Adulto , Estudos Longitudinais , SARS-CoV-2/isolamento & purificação , Cognição/fisiologia , Idoso , Autorrelato , Hospitalização , Função Executiva , Fadiga , Síndrome de COVID-19 Pós-Aguda
4.
J Lipid Res ; 54(12): 3481-90, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24058201

RESUMO

Angiopoietin-like 3 (ANGPTL3) regulates lipoprotein metabolism by modulating extracellular lipases. Loss-of function mutations in ANGPTL3 gene cause familial combined hypolipidemia (FHBL2). The mode of inheritance and hepatic and vascular consequences of FHBL2 have not been fully elucidated. To get further insights on these aspects, we reevaluated the clinical and the biochemical characteristics of all reported cases of FHBL2. One hundred fifteen FHBL2 individuals carrying 13 different mutations in the ANGPTL3 gene (14 homozygotes, 8 compound heterozygotes, and 93 heterozygotes) and 402 controls were considered. Carriers of two mutant alleles had undetectable plasma levels of ANGPTL3 protein, whereas heterozygotes showed a reduction ranging from 34% to 88%, according to genotype. Compared with controls, homozygotes as well as heterozygotes showed a significant reduction of all plasma lipoproteins, while no difference in lipoprotein(a) [Lp(a)] levels was detected between groups. The prevalence of fatty liver was not different in FHBL2 subjects compared with controls. Notably, diabetes mellitus and cardiovascular disease were absent among homozygotes. FHBL2 trait is inherited in a codominant manner, and the lipid-lowering effect of two ANGPTL3 mutant alleles was more than four times larger than that of one mutant allele. No changes in Lp(a) were detected in FHBL2. Furthermore, our analysis confirmed that FHBL2 is not associated with adverse clinical sequelae. The possibility that FHBL2 confers lower risk of diabetes and cardiovascular disease warrants more detailed investigation.


Assuntos
Hipobetalipoproteinemias/sangue , Hipobetalipoproteinemias/genética , Lipídeos/sangue , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Proteína 3 Semelhante a Angiopoietina , Proteínas Semelhantes a Angiopoietina , Angiopoietinas/sangue , Angiopoietinas/genética , Doenças Cardiovasculares/genética , Criança , Estudos de Coortes , Fígado Gorduroso/genética , Regulação da Expressão Gênica , Heterozigoto , Homozigoto , Humanos , Lipoproteína(a)/sangue , Pessoa de Meia-Idade , Mutação , Adulto Jovem
5.
J Neurol ; 269(8): 3990-3999, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35488918

RESUMO

Fatigue in its many forms of physical, mental, and psychosocial exhaustion is a common symptom of post-COVID-19 condition, also known as "Long COVID." Persistent fatigue in COVID-19 patients is frequently accompanied by cognitive dysfunction and neuropsychiatric symptoms; however, less is known about the relationships between these components of post-COVID-19 condition and fatigue itself. Consequently, the present study sought to (1) distinguish the types of fatigue experienced by participants, and (2) investigate whether cognitive deficits across various domains and neuropsychiatric conditions predicted these different types of fatigue. The study included 136 COVID-19 patients referred for neuropsychological evaluation due to cognitive complaints 8 months on average after SARS-CoV-2 infection. Measures included self-reported fatigue (physical, cognitive, and psychosocial), neuropsychiatric questionnaires (assessing symptoms of depression, anxiety, apathy, and executive functioning), a comprehensive neuropsychological assessment, and self-reported quality of life and everyday functioning. Results showed that reports of clinical significant fatigue were pervasive in our sample (82.3% of participants), with physical fatigue rated highest on average relative to the subscale maximum. Elevated levels of apathy, anxiety, and executive dysfunction in neuropsychiatric measures along with executive and attentional difficulties on cognitive tests were found to be consistently important predictors among different types of fatigue. This implicates both cognitive and neuropsychiatric symptoms as predictors of fatigue in post-COVID-19 condition, and stresses the importance of a holistic approach in assessing and considering potential treatment for COVID-19 patients experiencing fatigue.


Assuntos
COVID-19 , Disfunção Cognitiva , COVID-19/complicações , Cognição , Disfunção Cognitiva/diagnóstico , Depressão/diagnóstico , Fadiga/diagnóstico , Humanos , Qualidade de Vida , SARS-CoV-2 , Síndrome de COVID-19 Pós-Aguda
6.
Brain Behav ; 12(3): e2508, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35137561

RESUMO

BACKGROUND: While much of the scientific focus thus far has been on cognitive sequelae in patients with severe COVID-19, subjective cognitive complaints are being reported across the spectrum of disease severity, with recent studies beginning to corroborate patients' perceived deficits. In response to this, the aims of this study were to (1) explore the frequency of impaired performance across cognitive domains in post-COVID patients with subjective complaints and (2) uncover whether impairment existed within a single domain or across multiple. METHODS: Sixty-three patients with subjective cognitive complaints post-COVID were assessed with a comprehensive protocol consisting of various neuropsychological tests and mood measures. Cognitive test performance was transformed into T scores and classified based on recommended guidelines. After performing a principal component analysis to define cognitive domain factors, distributions of test scores within and across domains were analyzed. RESULTS: Results revealed pervasive impact on attention abilities, both as the singularly affected domain (19% of single-domain impairment) as well as coupled with decreased performance in executive functions, learning, and long-term memory. These salient attentional and associated executive deficits were largely unrelated to clinical factors such as hospitalization, disease duration, biomarkers, or affective measures. DISCUSSION: These findings stress the importance of comprehensive evaluation and intervention to address cognitive sequelae in post-COVID patients of varying disease courses, not just those who were hospitalized or experienced severe symptoms. Future studies should investigate to what extent these cognitive abilities are recuperated over time as well as employ neuroimaging techniques to uncover underlying mechanisms of neural damage.


Assuntos
COVID-19 , Transtornos Cognitivos , Disfunção Cognitiva , COVID-19/complicações , Cognição/fisiologia , Transtornos Cognitivos/complicações , Disfunção Cognitiva/psicologia , Função Executiva/fisiologia , Humanos , Testes Neuropsicológicos
7.
Eur Heart J Cardiovasc Pharmacother ; 8(2): 157-164, 2022 02 16.
Artigo em Inglês | MEDLINE | ID: mdl-33135047

RESUMO

AIM: Assessing the effect of statin therapy (ST) at hospital admission for COVID-19 on in-hospital mortality. METHODS AND RESULTS: Retrospective observational study. Patients taking statins were 11 years older and had significantly more comorbidities than patients who were not taking statins. A genetic matching (GM) procedure was performed prior to analysis of the mortality risk. A Cox proportional hazards model was used for the cause-specific hazard (CSH) function, and a competing-risks Fine and Gray (FG) model was also used to study the direct effects of statins on risk. Data from reverse transcription-polymerase chain reaction-confirmed 2157 SARS-CoV-2-infected patients [1234 men, 923 women; age: 67 y/o (IQR 54-78)] admitted to the hospital were retrieved from the clinical records in anonymized manner. Three hundred and fifty-three deaths occurred. Five hundred and eighty-one patients were taking statins. Univariate test after GM showed a significantly lower mortality rate in patients on ST than the matched non-statin group (19.8% vs. 25.4%, χ2 with Yates continuity correction: P = 0.027). The mortality rate was even lower in patients (n = 336) who maintained their statin treatments during hospitalization compared with the GM non-statin group (17.4%; P = 0.045). The Cox model applied to the CSH function [HR = 0.58(CI: 0.39-0.89); P = 0.01] and the competing-risks FG model [HR = 0.60 (CI: 0.39-0.92); P = 0.02] suggest that statins are associated with reduced COVID-19-related mortality. CONCLUSIONS: A lower SARS-CoV-2 infection-related mortality was observed in patients treated with ST prior to hospitalization. Statin therapy should not be discontinued due to the global concern of the pandemic or in patients hospitalized for COVID-19.


Assuntos
COVID-19 , Inibidores de Hidroximetilglutaril-CoA Redutases , Idoso , Feminino , Mortalidade Hospitalar , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/efeitos adversos , Masculino , Pandemias , SARS-CoV-2
8.
Sci Rep ; 11(1): 7217, 2021 03 30.
Artigo em Inglês | MEDLINE | ID: mdl-33785815

RESUMO

Lipids are indispensable in the SARS-CoV-2 infection process. The clinical significance of plasma lipid profile during COVID-19 has not been rigorously evaluated. We aim to ascertain the association of the plasma lipid profile with SARS-CoV-2 infection clinical evolution. Observational cross-sectional study including 1411 hospitalized patients with COVID-19 and an available standard lipid profile prior (n: 1305) or during hospitalization (n: 297). The usefulness of serum total, LDL, non-HDL and HDL cholesterol to predict the COVID-19 prognosis (severe vs mild) was analysed. Patients with severe COVID-19 evolution had lower HDL cholesterol and higher triglyceride levels before the infection. The lipid profile measured during hospitalization also showed that a severe outcome was associated with lower HDL cholesterol levels and higher triglycerides. HDL cholesterol and triglyceride concentrations were correlated with ferritin and D-dimer levels but not with CRP levels. The presence of atherogenic dyslipidaemia during the infection was strongly and independently associated with a worse COVID-19 infection prognosis. The low HDL cholesterol and high triglyceride concentrations measured before or during hospitalization are strong predictors of a severe course of the disease. The lipid profile should be considered as a sensitive marker of inflammation and should be measured in patients with COVID-19.


Assuntos
COVID-19/etiologia , HDL-Colesterol/sangue , Triglicerídeos/sangue , Idoso , COVID-19/sangue , Feminino , Ferritinas/sangue , Produtos de Degradação da Fibrina e do Fibrinogênio/análise , Hospitalização , Humanos , Lipídeos/sangue , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de Doença
9.
J Clin Med ; 9(6)2020 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-32498389

RESUMO

This study aimed to determine the association of fatty acid transporter plasma soluble cluster of differentiation 36 (sCD36) with subclinical carotid atherosclerosis (SCA). A cross-sectional study was conducted in 1023 subjects, 225 with type 1 diabetes (T1D), 276 with type 2 diabetes (T2D) and 522 who were nondiabetic. Carotid atherosclerotic plaque (CAP) presence was determined using B-mode carotid ultrasound imaging. sCD36 were analysed by ELISA, and CD36 surface receptor and mRNA expression were measured by flow cytometry and real-time PCR. Logistic regression models were used to evaluate sCD36 as a biomarker of SCA. Up to 376 (36.75%) participants had at least one CAP, 76 T1D, 164 T2D and 136 without diabetes, while the remaining 647 (63.25%) did not have any CAP. There were no differences in sCD36 between patients with and without CAP in T1D (p = 0.287) or T2D (p = 0.513). Although nondiabetic subjects with plaques had lower sCD36 levels than those without (p = 0.023), the multivariate models revealed no association of sCD36 with CAP in any of the three study groups. No differences were found in surface CD36 or CD36 mRNA expression between the patients with and without CAP. sCD36 is not associated with SCA in type 1 or type 2 diabetic or in nondiabetic subjects.

10.
Biomedicines ; 8(9)2020 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-32942679

RESUMO

Familial hypercholesterolemia (FH) is associated with mutations in the low-density lipoprotein (LDL) receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9) genes. A pathological variant has not been identified in 30-70% of clinically diagnosed FH patients, and a burden of LDL cholesterol (LDL-c)-raising alleles has been hypothesized as a potential cause of hypercholesterolemia in these patients. Our aim was to study the distribution of weighted LDL-c-raising single-nucleotide polymorphism (SNP) scores (weighted gene scores or wGS) in a population recruited in a clinical setting in Catalonia. The study included 670 consecutive patients with a clinical diagnosis of FH and a prior genetic study involving 250 mutation-positive (FH/M+) and 420 mutation-negative (FH/M-) patients. Three wGSs based on LDL-c-raising variants were calculated to evaluate their distribution among FH patients and compared with 503 European samples from the 1000 Genomes Project. The FH/M- patients had significantly higher wGSs than the FH/M+ and control populations, with sensitivities ranging from 42% to 47%. A wGS based only on the SNPs significantly associated with FH (wGS8) showed a higher area under the receiver operating characteristic curve, and higher diagnostic specificity and sensitivity, with 46.4% of the subjects in the top quartile. wGS8 would allow for the assignment of a genetic cause to 66.4% of the patients if those with polygenic FH are added to the 37.3% of patients with monogenic FH. Our data indicate that a score based on 8 SNPs and the75th percentile cutoff point may identify patients with polygenic FH in Catalonia, although with limited diagnostic sensitivity and specificity.

11.
Clin Infect Dis ; 44(6): e57-61, 2007 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-17304442

RESUMO

Two adult patients who presented to a hospital with bilateral facial Bell palsy who were also experiencing human immunodeficiency virus type 1 seroconversion are described. Ten additional cases retrieved from the literature are also reviewed. Bell palsy appeared a median of 15 days after the beginning of the clinical disease, and aseptic meningitis was an invariable concomitant of facial neuropathy. All but 1 patient (8.3%) recovered without sequelae.


Assuntos
Paralisia de Bell/etiologia , Infecções por HIV/complicações , HIV-1/isolamento & purificação , Adulto , Fármacos Anti-HIV/uso terapêutico , Paralisia de Bell/diagnóstico , Paralisia de Bell/terapia , Terapia Combinada , Seguimentos , Infecções por HIV/diagnóstico , Infecções por HIV/tratamento farmacológico , Humanos , Masculino , Medição de Risco , Índice de Gravidade de Doença
12.
Antivir Ther ; 12(2): 195-203, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17503662

RESUMO

OBJECTIVE: To carry out an exploratory evaluation of liver triglyceride content in HIV-1-infected patients receiving highly active antiretroviral therapy (HAART) using proton magnetic resonance spectroscopy and to study how both the treatment itself and the biochemical and physiological variables in which the treatment causes alterations are related to liver fat content. METHODS: Intracellular hepatic triglyceride content was determined in 29 HIV-1-infected patients on their first HAART regime by means of localized water-unsuppressed single voxel proton spectra. Other measurements were body mass index, waist-to-hip ratio, lipodystrophy assessment and a detailed blood biochemical analysis. The relationship between intracellular hepatic triglycerides and relevant descriptive, treatment and biochemical variables was studied by correlation and regression analysis. RESULTS: Intrahepatic triglycerides were detected in 58.6% of the patients and 13.8% showed a triglyceride content compatible with liver steatosis. Many variables (body mass index, waist-to-hip ratio, cumulative exposure to PIs, lactate, insulin, insulin resistance measured by the homeostasis model assessment method [HOMA-R index], pH, total triglycerides, high density lipoprotein cholesterol and very low density lipoprotein [VLDL] cholesterol) correlated individually with the amount of triglycerides. Stepwise multiple regression analysis showed that the combination of insulin or HOMA-R index and VLDL cholesterol accounted for up to 50.2% of the triglyceride liver variance. A positive relationship was found between the concomitant presence of the metabolic syndrome components (insulin resistance, dyslipidaemia and central obesity) and intrahepatic triglyceride content. CONCLUSIONS: The study showed that intrahepatic triglyceride deposit appears to be a frequent feature of HIV-1-infected patients receiving HAART. A coherent multifactorial combination of biochemical and physiological factors associated with the deposit suggested that cumulative exposure to PIs might be a possible trigger event.


Assuntos
Antirretrovirais/uso terapêutico , Fígado Gorduroso/etiologia , Infecções por HIV/tratamento farmacológico , HIV-1 , Fígado/efeitos dos fármacos , Espectroscopia de Ressonância Magnética , Triglicerídeos/metabolismo , Adulto , Antirretrovirais/efeitos adversos , Terapia Antirretroviral de Alta Atividade , Estudos de Coortes , Estudos Transversais , Fígado Gorduroso/induzido quimicamente , Fígado Gorduroso/metabolismo , Fígado Gorduroso/virologia , Feminino , Infecções por HIV/complicações , Infecções por HIV/metabolismo , Infecções por HIV/virologia , Inibidores da Protease de HIV/uso terapêutico , Síndrome de Lipodistrofia Associada ao HIV/etiologia , Síndrome de Lipodistrofia Associada ao HIV/metabolismo , Humanos , Fígado/metabolismo , Masculino , Síndrome Metabólica/complicações , Síndrome Metabólica/metabolismo , Pessoa de Meia-Idade , Inibidores da Transcriptase Reversa/uso terapêutico , Resultado do Tratamento , Trítio
13.
Med Clin (Barc) ; 144(2): 51-4, 2015 Jan 20.
Artigo em Espanhol | MEDLINE | ID: mdl-24820904

RESUMO

BACKGROUND AND OBJECTIVE: In this study, 123 recordings of blood pressure (BP) obtained by ambulatory BP monitoring were analyzed. These recordings were measured in 2011 in patients from a Spanish tertiary university hospital. All participating patients were treated with 2, 3 or 4 anti-hypertensive drugs. The main aim of this study was to determine differences in BP control, if any, depending on the medication schedule. Thus, BP levels were studied at 3 periods of the day: activity hours, rest hours and 24h. PATIENTS AND METHOD: We compared subjects taking all anti-hypertensive agents during the day (n=70, group 1) with those taking at least one at night (n=53, group 2). RESULTS: Significant differences were found on diastolic BP, where group 2 patients had lower levels at activity, 24h periods and sleep-time. Even if it was not statistically significant, lower levels of systolic BP from group 2 were also observed at activity and 24h periods as well as lower levels of systolic, diastolic and mean BP at rest hours periods. There were also significant group differences in relation to the number of prescribed agents (with the mean being higher for group 2) and the type of agent (beta-blockers and calcium antagonists were more prevalent in group 2). Nevertheless, the multivariate regression analysis done taking into account these variables did not change the observed statistical significance. CONCLUSION: The administration of anti-hypertensive drugs at night could be associated with lower BP levels.


Assuntos
Anti-Hipertensivos/administração & dosagem , Pressão Sanguínea/efeitos dos fármacos , Cronofarmacoterapia , Hipertensão/tratamento farmacológico , Idoso , Anti-Hipertensivos/farmacocinética , Anti-Hipertensivos/uso terapêutico , Pressão Sanguínea/fisiologia , Monitorização Ambulatorial da Pressão Arterial , Doenças Cardiovasculares/epidemiologia , Comorbidade , Feminino , Humanos , Hipertensão/epidemiologia , Masculino , Pessoa de Meia-Idade , Obesidade/epidemiologia , Descanso , Estudos Retrospectivos , Apneia Obstrutiva do Sono/epidemiologia , Fumar/epidemiologia , Vigília
14.
Clin Chim Acta ; 413(5-6): 552-5, 2012 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-22155345

RESUMO

BACKGROUND: Familial hypobetalipoproteinemia (FHBL), characterized by extremely low levels of plasma apolipoprotein (apo) B and cholesterol associated with low-density lipoproteins (LDLc), is considered to be an autosomal co-dominant disorder of heterogeneous origin. The main genetic disorder associated with FHBL consists of mutations in the APOB gene, while other less frequent forms are associated with mutations in NPC1L1, PCSK9, a still unidentified gene in 3p21.1-22 and, more recently, in ANGPTL3. METHODS: We scanned for ANGPTL3 mutations in 4 unrelated Spanish families with FHBL criteria but negative for mutations in APOB. The entire coding region and intron-exon boundaries of the ANGPTL3 gene were amplified and sequenced. RESULTS: Two probands were positive for the same frameshift mutation, a deletion of 5 bp in codon 121 in ANGPTL3, which produces a truncated protein of 122 residues. This mutation in homozygosis was associated in both families with combined hypolipidemia, characterized by low plasma apoB, low total, LDL and HDL cholesterol and low triglycerides. CONCLUSION: We confirm the existence of a new phenotype of FHBL, denominated familial combined hypolipidemia, which consist of a biochemical phenotype of low LDLc, low apoB, low TG and, unlike APOB mutations, low HDL cholesterol, due to a loss-of-function mutation in ANGPTL3.


Assuntos
Angiopoietinas/genética , Hipobetalipoproteinemias/genética , Proteína 3 Semelhante a Angiopoietina , Proteínas Semelhantes a Angiopoietina , Apolipoproteínas B/genética , Humanos , Hipobetalipoproteinemias/sangue , Hipobetalipoproteinemias/diagnóstico , Mutação , Fenótipo
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