Introduction The hemogram and hemogram-derivative ratios (HDRs) are becoming markers of the severity and mortality of COVID-19. We evaluated the hemograms and serial weekly HDRs [neutrophil-lymphocyte ratio (NLR), monocyte-lymphocyte ratio (MLR), platelet-lymphocyte ratio (PLR), neutrophil-platelet ratio (NPR) and systemic immune-inflammatory index (SII)] in the survivors and non-survivors of COVID-19. Methods We retrospectively reviewed the medical notes and serial hemograms of real-time reverse-transcription polymerase chain reaction (RT-PCR)-confirmed COVID-19 adults hospitalized from April 2020 to March 2021 from the time of diagnosis to the 3rd week of diagnosis. Results Of the 320 adults, 257 (80.3%) were survivors and had a lower mean age than the non-survivors (57.73 vs. 64.65 years, p < 0.001). At diagnosis, the non-survivors had lower hematocrit (p = 0.021), and lymphocyte (p = 0.002) and basophil (p = 0.049) counts and the hematocrit showed a p-value (Is this what you meant???) of 0.021); higher NLR (p < 0.001), PLR (p = 0.047), NPR (p = 0.022) and SII (p = 0.022). Using general linear models, the survivors and non-survivors showed significant variations with weekly lymphocyte count (p < 0.001), neutrophil count (p = 0.005), NLR (p = 0.009), MLR (p = 0.010) and PLR (p = 0.035). All HDRs remained higher in the non-survivors in the 2nd week and 3rd week of diagnosis and the HDRs were higher in the intubated patients than in the non-intubated patients. The NLR and SII were more efficient predictors of mortality in COVID-19 patients. Conclusions This study shows that serial lymphocyte and neutrophil counts, NLR, PLR, MLR, NPR and SII could serve as good and easily accessible markers of severity and predictors of outcomes in COVID-19 patients and should be used for the monitoring of treatment response. hemogramderivative derivative (HDRs COVID19. COVID19 COVID 19. 19 neutrophillymphocyte , (NLR) monocytelymphocyte monocyte (MLR) plateletlymphocyte platelet (PLR) neutrophilplatelet (NPR immuneinflammatory immune inflammatory (SII) nonsurvivors non realtime real reversetranscription reverse transcription RTPCRconfirmed RT PCR confirmed COVID-1 202 rd 32 25 80.3% 803 80 3 (80.3% 57.73 5773 57 73 (57.7 vs 6465 64 65 64.6 years 0.001. 0001 0.001 . 0 001 0.001) 0.021, 0021 0.021 021 0.021) 0.002 0002 002 0.049 0049 049 pvalue value Is meant meant??? 0.001, 0.047, 0047 0.047 047 0.047) 0.022 0022 022 0.022. models 0.005, 0005 0.005 005 0.005) 0.009, 0009 0.009 009 0.009) 0.010 0010 010 0.035. 0035 0.035 035 0.035) nd nonintubated response COVID1 1 (NLR (MLR (PLR (SII COVID- 20 2 80.3 8 (80.3 57.7 577 5 7 (57. 646 6 64. 000 0.00 00 0.02 02 0.04 004 04 meant?? 0.01 01 003 0.03 03 80. (80. 57. (57 0.0 meant? (80 (5 0. (8 (

ABSTRACT Introduction Mutations affecting genes involved in oxidative and signaling pathways may be associated with kidney disease in sickle cell anemia. We determined the allele and genotype frequencies of some polymorphisms in the promoter regions of the Heme Oxygenase-1 (HMOX1) [rs2071746 (A > T) and (GT)n repeats, short (S) and long (L) alleles] and Bone Morphogenetic Protein Receptor type-1B (BMPR1B) [rs17022863 (A > G), rs4331783 (A > G) and rs1470409 (A > G)] genes in 75 adult patients with sickle cell anemia and 160 healthy controls and investigated whether these polymorphisms may influence the estimated glomerular filtration rate for the patients. Methods The single nucleotide polymorphisms were genotyped using the TaqMan assays, the HMOX1(GT)n repeats were determined by polymerase chain reaction fragment size analysis and the estimated glomerular filtration rate was calculated by the Modification of Diet in Renal Disease formula. Results Regarding the HMOX1rs2071746, the estimated glomerular filtration rate median was significantly higher in TT patients (p = 0.019), including when TT was compared with AT + AA (p = 0.009); for the (GT)n repeats, the estimated glomerular filtration rate medians of SS, SL and LL significantly differed (p = 0.009), being the LL estimated glomerular filtration rate median significantly higher, when compared with the LS + SS (p = 0.005). These results suggest that both the homozygotes, TT for rs2071746 and LL for (GT)n repeats, lead to a higher risk of developing renal complications. Concerning the BMPR1B, the frequencies of GG for rs17022863 and AA for rs4331783 were significantly higher in patients than in controls (p = 0.002 and p = 0.008, respectively), however no association with estimated glomerular filtration rate was found. Conclusion These results contribute to a better understanding of the genetic factors related to the development of nephropathy in sickle cell anemia patients.

Abstract Alpha thalassemia is the most common genetic disorder across the world, being the α-3.7 deletion the most frequent mutation. In order to analyze the spectrum and origin of alpha thalassemia mutations in Uruguay, we obtained a sample of 168 unrelated outpatients with normal hemoglobin levels with microcytosis and hypochromia from two cities: Montevideo and Salto. The presence of α-thalassemia mutations was investigated by gap-PCR, restriction endonucleases analysis and HBA2 and HBA1 genes sequencing, whereas the alpha-MRE haplotypes were investigated by sequencing. We found 55 individuals (32.7%) with α-thalassemia mutations, 51(30.4%) carrying the -α3.7 deletion, one with the -α4.2 deletion and three having the rare punctual mutation HBA2:c.-59C>T. Regarding alpha-MRE analysis, we observed a significant higher frequency of haplotype D, characteristic of African populations, in the sample with the -α3.7 deletion. These results show that α-thalassemia mutations are an important determinant of microcytosis and hypochromia in Uruguayan patients with microcytosis and hypochromia without anemia, mainly due to the -α3.7 deletion. The alpha-MRE haplotypes and the α-thalassemia mutations spectrum suggest a predominant, but not exclusive, African origin of these mutations in Uruguay.

ABSTRACT Objective: to analyze satisfaction with sleep in the perception of the quality of life of the elderly. Methods: a cross-sectional descriptive study with a convenience sample of 86 elderly people enrolled in a socio-educational project, in Vale do Paraíba, São Paulo, Brazil. The perception of quality of life was measured using the WHOQOL-bref instrument and the satisfaction with sleep by facet number 16 of the same instrument. For the characterization of the group, the socioeconomic and health variables were used by means of a self-answered questionnaire. The Spearman’s test was used to analyze the correlations between the facets of sleep and the scores of the other quality of life domains. Results: the majority of the participants were women (93.02%) between 60 and 69 years old (84.89%). The perception of quality of life showed mean score values of 68.99 for the physical domain, of 68.81 for the psychological domain, of 73.11 for the social relations domain and of 66.19 for the environment domain. The facet satisfaction with sleep presented a correlation with the availability of the necessary information daily (rs=0.4342), leisure opportunities (rs=0.2966) and satisfaction with the support of friends (rs=0.2669). Conclusions: the study concluded that the elderly people's satisfaction with sleep is associated with social relationships, leisure and access to information.

RESUMEN Objetivo: analizar la satisfacción con el sueño desde la percepción de la calidad de vida de la tercera edad. Métodos estudio descriptivo de corte transversal llevado a cabo en Vale do Paraíba, estado de São Paulo, Brasil, con muestra de conveniencia de 86 personas mayores incluidas en un proyecto socioeducativo. La percepción de la calidad de vida se midió utilizando el instrumento WHOQOL-bref y la satisfacción con el sueño por la faceta número 16 del mismo instrumento. Para la caracterización del grupo se utilizaron variables socioeconómicas y de salud a través de una encuesta auto - administrada. Se utilizó la prueba de Spearman para analizar las correlaciones entre las facetas del sueño y las puntuaciones de los otros dominios de calidad de vida. Resultados: la mayoría de los participantes eran mujeres (93.02%), entre 60 y 69 años (84.89%). La percepción calidad de vida mostró valores de puntaje promedio de 68.99 para el dominio físico, 68.81 para el dominio psicológico, 73.11 para el dominio relaciones sociales y 66.19 para el dominio medio ambiente. El aspecto de satisfacción con el sueño se correlacionó con la disponibilidad de información necesaria diariamente (rs = 0.4342), las oportunidades de ocio (rs = 0.2966) y la satisfacción con el apoyo de los amigos (rs = 0.2669). Conclusiones: el estudio concluyó que la satisfacción de las personas mayores con el sueño está asociada con las relaciones sociales, el ocio y el acceso a la información.

RESUMO Objetivo: analisar a satisfação com o sono na percepção da qualidade de vida de idosos. Métodos estudo transversal descritivo com amostra por conveniência de 86 idosos inseridos em projeto socioeducativo, no Vale do Paraíba, estado de São Paulo, Brasil. A percepção da qualidade de vida foi mensurada por meio do instrumento WHOQOL-bref e a satisfação com o sono pela faceta de número 16 do mesmo instrumento. Para a caracterização do grupo utilizaram-se as variáveis socioeconômicas e de saúde por meio de questionário autorrespondido. O teste de Spearman foi utilizado para analisar as correlações entre as facetas do sono e os escores dos demais domínios de qualidade de vida. Resultados: a maioria dos participantes eram mulheres (93,02%), entre 60 e 69 anos (84,89%). A percepção de qualidade de vida apresentou valores médios de escores de 68,99 para o domínio físico, 68,81 no domínio psicológico, 73,11 para o domínio de relações sociais e 66,19 para o domínio de meio ambiente. A faceta satisfação com o sono apresentou correlação com a disponibilidade de informações necessárias diariamente (rs=0,4342), oportunidades de lazer (rs=0,2966) e satisfação com o apoio dos amigos (rs=0,2669). Conclusões: o estudo concluiu que a satisfação dos idosos com o sono está associada às relações sociais, ao lazer e ao acesso às informações.

Abstract Alpha-thalassemias are among the most common genetic diseases in the world. They are characterized by hypochromic and microcytic anemia and great clinical variability, ranging from a practically asymptomatic phenotype to severe anemia, which can lead to intrauterine or early neonatal death. Deletions affecting the α-globin genes, located on chromosome 16p13.3, are the main causes of α-thalassemia. Multiplex ligation-dependent probe amplification (MLPA) can be used to detect rearrangements that cause α-thalassemia, particularly large deletions involving the whole α cluster and/or deletions in the HS-40 region. Here, MLPA was used to investigate the molecular basis of α-thalassemia in five unrelated patients, three of whom had Hb H disease. In addition to the -α3.7 deletion identified in the patients with Hb H disease, four different α0 deletions removing 15 to 225 kb DNA segments were found: two of them remove both the α genes, one affects only the regulatory element (HS-40) region, and another one extends over the entire α cluster and the HS-40 region. These results illustrate the diversity of α-thalassemia deletions in the Brazilian population and highlight the importance of molecular investigation in cases that present with microcytosis and hypochromia without iron deficiency and normal or reduced Hb A2 levels..

Resumo Objetivo Verificar a qualidade do sono, o cronotipo e as características de saúde associadas à qualidade de sono de estudantes. Métodos Estudo descritivo observacional e transversal com 204 estudantes do curso de graduação em enfermagem (faixa etária de 18 à 29 anos; 91,6% sexo feminino). Foi utilizado um questionário para caracterização sociodemográfica e de saúde. O questionário de Índice de Qualidade de Sono de Pittsburgh e o Questionário de Identificação de Indivíduos Matutinos e Vespertinos foram aplicados para a verificação da qualidade do sono e a identificação do cronotipo respectivamente. Foram analisadas a associação entre as variáveis de saúde e a qualidade do sono. Resultados A maioria dos estudantes foi identificada com preferência de cronotipo indiferente (56,37%) e com qualidade de sono ruim (84,31%). Houve associação entre ser estudante e trabalhar com os sintomas de má digestão, cefaleia, sonolência diurna e insônia. Conclusão Estudantes de enfermagem possuem qualidade de sono ruim e preferência de cronotipo indiferente; aqueles que, acumulam as funções estudo/trabalho, apresentam maior número se sintomas de má digestão, cefaleia, sonolência diurna e insônia.

Abstract Objective To verify the quality of sleep, chronotype, and health characteristics associated with the sleep quality of students. Methods Descriptive, observational, and cross-sectional study with 204 undergraduate nursing students (age group 18-29 years, 91.6% female). A questionnaire was used for sociodemographic and health characterization. The Pittsburgh Sleep Quality Index Questionnaire and the Morningness-Eveningness Questionnaire were applied to verify the sleep quality and identify the chronotype, respectively. The association between health variables and sleep quality was analyzed. Results The majority of students was identified with preference for the indifferent chronotype (56.37%) and poor sleep quality (84.31%). There was an association between being a student and working, with symptoms of poor digestion, headache, daytime sleepiness and insomnia. Conclusion Nursing students have poor sleep quality and preference for the indifferent chronotype. Those who accumulate the study/work functions, present more symptoms of poor digestion, headache, daytime sleepiness and insomnia.

Abstract Objective To verify the quality of sleep, chronotype, and health characteristics associated with the sleep quality of students. Methods Descriptive, observational, and cross-sectional study with 204 undergraduate nursing students (age group 18-29 years, 91.6% female). A questionnaire was used for sociodemographic and health characterization. The Pittsburgh Sleep Quality Index Questionnaire and the Morningness-Eveningness Questionnaire were applied to verify the sleep quality and identify the chronotype, respectively. The association between health variables and sleep quality was analyzed. Results The majority of students was identified with preference for the indifferent chronotype (56.37%) and poor sleep quality (84.31%). There was an association between being a student and working, with symptoms of poor digestion, headache, daytime sleepiness and insomnia. Conclusion Nursing students have poor sleep quality and preference for the indifferent chronotype. Those who accumulate the study/work functions, present more symptoms of poor digestion, headache, daytime sleepiness and insomnia.

Resumo Objetivo Verificar a qualidade do sono, o cronotipo e as características de saúde associadas à qualidade de sono de estudantes. Métodos Estudo descritivo observacional e transversal com 204 estudantes do curso de graduação em enfermagem (faixa etária de 18 à 29 anos; 91,6% sexo feminino). Foi utilizado um questionário para caracterização sociodemográfica e de saúde. O questionário de Índice de Qualidade de Sono de Pittsburgh e o Questionário de Identificação de Indivíduos Matutinos e Vespertinos foram aplicados para a verificação da qualidade do sono e a identificação do cronotipo respectivamente. Foram analisadas a associação entre as variáveis de saúde e a qualidade do sono. Resultados A maioria dos estudantes foi identificada com preferência de cronotipo indiferente (56,37%) e com qualidade de sono ruim (84,31%). Houve associação entre ser estudante e trabalhar com os sintomas de má digestão, cefaleia, sonolência diurna e insônia. Conclusão Estudantes de enfermagem possuem qualidade de sono ruim e preferência de cronotipo indiferente; aqueles que, acumulam as funções estudo/trabalho, apresentam maior número se sintomas de má digestão, cefaleia, sonolência diurna e insônia.

Objective: To characterize the socioeconomic and demographic aspects of sickle cell disease patients from the state of Rio Grande do Norte (RN), Northeast Brazil, and their adherence to the recommended treatment. Methods: This cross-sectional descriptive study was performed at referral centers for the treatment of hematological diseases. One hundred and fifty-five unrelated individuals with sickle cell disease who went to these centers for outpatient visits were analyzed. All the patients, or their caregivers, were informed about the research procedures and objectives, and answered a standardized questionnaire. Results: The patients were predominantly younger than 12 years old, self-declared as mulatto, lived in small towns fairly distant from the referral center, and had low education and socioeconomic levels. Individuals who were ten or younger were diagnosed at an earlier age. Almost 50% of the patients were taking hydroxyurea, 91.4% reported having received pneumococcal/meningococcal vaccinations and 76.1% received penicillin as antibiotic prophylaxis. However, the majority of them reported having difficulties following the recommendations of the physicians, mainly in respect to attaining the prescribed medications and transportation to the referral centers. Conclusion: These individuals have a vulnerable socioeconomic situation that can lead to an aggravation of their general health and thus deserve special attention from the medical and psychosocial perspectives. Thus, it is necessary to improve public policies that provide Brazilian sickle cell disease patients with better access to medical treatment, living conditions, and integration into society.

Background: Brazil has a multiethnic population with a high diversity of hemoglobinopathies. While screenings for beta-globin mutations are far more common, alterations affecting alpha-globin genes are usually more silent and less well known. The aim of this study was to describe the results of a screening program for alpha-globin gene mutations in a representative sample of the Southeastern Brazilian population. Methods: A total of 135,000 individuals, including patients with clinical suspicion of hemoglobinopathies and their family members, randomly chosen individuals submitted to blood tests and blood donors who were abnormal hemoglobin carriers were analyzed. The variants were screened by alkaline and acid electrophoreses, isoelectric focusing and cation-exchange high performance liquid chromatography (HPLC) and the abnormal chains were investigated by reverse-phase high performance liquid chromatography (RP-HPLC). Mutations were identified by molecular analyses, and the oxygen affinity, heme-heme cooperativity and Bohr effect of the variants were evaluated by functional tests. Results: Four new and 22 rare variants were detected in 98 families. Some of these variants were found in co-inheritance with other hemoglobinopathies. Of the rare hemoglobins, Hasharon, Stanleyville II and J-Rovigo were the most common, the first two being S-like and associated with alpha-thalassemia. Conclusion: The variability of alpha-globin alterations reflects the high degree of racial miscegenation and an intense internal migratory flow between different Brazilian regions. This diversity highlights the importance of programs for diagnosing hemoglobinopathies and preventing combinations that may lead to important clinical manifestations in multiethnic populations.

Hemoglobinopathies are the most common recessive diseases worldwide but their prevalence in Uruguay has not been investigated. In this study, 397 unrelated outpatient children from the Pereira Rosell Hospital Center (CHPR), as well as 31 selected patients with microcytic anemia and 28 β-thalassemia carriers were analyzed for hemoglobinopathies by using biochemical and molecular biology methods. Parametric and non-parametric methods were used to compare the hematological indices between groups of genotypes. Of the 397 patients in the first group, approximately 1% (0.76% HbS and 0.25% β-thalassemia) had a mutation in the HBB gene and 3.3% had α-thalassemia. These mutations had a heterogeneous distribution that varied according to individual ancestry. HbS was found exclusively in individuals with declared African ancestry and had a carrier frequency of 2.2%. The frequency of α-thalassemia carriers in outpatients of European and African ancestry was 1.2% and 6.5%, respectively. In contrast, the frequency of α-thalassemia carriers in patients with microcytic anemia was 25.8%, significantly higher (p < 0.01) than that observed in the sample as a whole and in Afro-descendants and Euro-descendants. Significant differences were observed in the hematological parameters between individuals with thalassemia genotypes and those with a normal genotype. These results indicate that hemoglobinopathies are a relevant health problem in Uruguay.

Hemoglobin Southampton (also known as hemoglobin Casper) is a rare hemoglobin structural variant resulting from a substitution of a leucine residue for proline at codon beta106 [beta106(G8)Leu→Pro, CTG→CCG]. It is very unstable and associated with severe hemolytic anemia. We detected this mutation in a 37-year-old Uruguayan woman with a history of severe chronic hemolytic anemia since her childhood. According to our knowledge this is the first time that this variant has been found in the Uruguayan population.

α-Thalassemia, arising from a defect in a-globin chain synthesis, is often caused by deletions involving one or both of the a-genes on the same allele. With the aim of investigating the prevalence of α-thalassemia 3.7 kb deletion in the adult population of Rio Grande do Norte, 713 unrelated individuals, between 18 and 59 years-of-age, were analyzed. Red blood cell indices were electronically determined, and A2 and F hemoglobins evaluated by HPLC. PCR was applied to the molecular investigation of α-thalassemia 3.7 kb deletion. Eighty (11.2%) of the 713 individuals investigated presented α-thalassemia, of which 79 (11.1%) were heterozygous (-α3.7/αα) deletions and 1 (0.1%) homozy- gous (-α3.7/-α3.7). Ethnically, heterozygous deletions were higher (24.8%) in Afro-Brazilians. Comparison of hemato- logical parameters between individuals with normal genotype and those with heterozygous α+-thalassemia showed a statistically significant difference in the number of erythrocytes (p < 0.001), MCV (p < 0.001), MCH (p < 0.001) and Hb A2 (p = 0.007). This study is one of the first dedicated to investigating α-thalassemia 3.7 kb deletion in the population of the State Rio Grande do Norte state. Results obtained demonstrate the importance of investigating this condition in order to elucidate the causes of microcytosis and hypochromia.

βS haplotypes were studied in 47 non-related patients with sickle-cell anemia from the state of Rio Grande do Norte, Brazil. Molecular analysis was conducted by PCR/RFLP using restriction endonucleases XmnI, HindIII, HincII and HinfI to analyze six polymorphic sites from the beta cluster. Twenty-seven patients (57.5%) were identified with genotype CAR/CAR, 9 (19.1%) CAR/BEN, 6 (12.8%) CAR/CAM, 1 (2.1%) BEN/BEN, 2 (4.3%) CAR/Atp, 1 (2.1%) BEN/Atp and 1 (2.1%) with genotype Atp/Atp. The greater frequency of Cameroon haplotypes compared to other Brazilian states suggests the existence of a peculiarity of African origin in the state of Rio Grande do Norte.