Asociación entre parámetros hematológicos y fenotipos metabólicamente poco saludables en niños y adolescentes

Introducción: El síndrome metabólico se ha asociado con cambios en parámetros hematológicos (glóbulos rojos, plaquetas y leucocitos); se pueden utilizar para identificar sujetos en riesgo de fenotipos metabólicamente no saludables (MUP). Se investigó si estos parámetros hematológicos sirven como biomarcadores para distinguir el fenotipo metabólicamente sano (MHP) del MUP en niños y adolescentes. Métodos: Estudio transversal, 292 niños y adolescentes. El diagnóstico de MUP fue según consenso. Se utilizó ANOVA unidireccional en las comparaciones, regresión logística múltiple para determinar si el sexo, el grupo etario, el estado nutricional, la pubertad, los parámetros hematológicos y la resistencia a la insulina se asociaron con MUP. Resultados: Edad media 11 años (DE: 2,61). Los valores de RDW fueron significativamente más bajos en los niños en el grupo de peso normal metabólicamente insalubre (MUNW) en comparación con los niños con obesidad metabólicamente no saludable (MUO) (12,33 ± 0,90 vs. 13,67 ± 0,52; p = 0,01) y en la obesidad metabólicamente saludable (MHO) en comparación con el grupo MUO (13,15 ± 0,53 vs. 13,67 ± 0,52; p = 0,04). En adolescentes, la relación plaquetas/linfocitos fue mayor en el grupo MHNW (con un valor medio de 152,60 (DE 62,97) vs 111,16 (DE 44,12) para el grupo MHO. Al ajustar por edad, estado nutricional y pubertad, los índices hematológicos no se asociaron con MUP. Conclusión: Los parámetros hematológicos no están asociados independientemente con el MUP, y es poco probable que representen biomarcadores confiables para la detección del MUP en la población pediátrica.

Introduction: Metabolic syndrome has been associated with changes in several hematological parameters, such as red blood cells, platelets, and leucocytes. Therefore, hematologic parameters can be used to identify the subjects at risk of metabolically unhealthy phenotypes (MUP). The current study investigated if hematological parameters can serve as biomarkers to distinguish metabolically healthy phenotype (MHP) from MUP in children and adolescents. Methods: Two hundred ninety-two children and adolescents were enrolled in this cross-sectional study. The MUP was diagnosed using consensus-based criteria. Group comparisons were performed using one-way ANOVA. Multiple logistic regression analysis was used to determine if sex, age group, nutritional status, puberty, hematological parameters, and insulin resistance were associated with MUP. Results: The subject's age mean was 11 years (SD: 2.61). RDW values were significantly lower in children in the metabolically unhealthy normal weight (MUNW) group compared to children with metabolically unhealthy obesity (MUO) group (12.33 ± 0.90 vs. 13.67 ± 0.52; p = 0.01) and in metabolically healthy obesity (MHO) compared to MUO group (13.15 ± 0.53 vs. 13.67 ± 0.52; p = 0.04). In adolescents, the platelet-to-lymphocyte ratio was higher in the MHNW group, with a mean value of 152.60 (SD 62.97) compared to 111.16 (SD 44.12) for the MHO group. However, after adjusting for age, nutritional status, and puberty, hematological indices were not associated with MUP. Conclusions: The study demonstrates that hematologic parameters are not independently associated with the MUP, and it is unlikely that they represent reliable biomarkers for screening for the MUP in the pediatric population.

The fliL gene significantly affects the motility and sporulation abilities of Clostridioides difficile / 生物工程学报

Flagella are the main motility structure of Clostridioides difficile that affects the adhesion, colonization, and virulence of C. difficile in the human gastrointestinal tract. The FliL protein is a single transmembrane protein bound to the flagellar matrix. This study aimed to investigate the effect of the FliL encoding gene flagellar basal body-associated FliL family protein (fliL) on the phenotype of C. difficile. The fliL gene deletion mutant (ΔfliL) and its corresponding complementary strains (: : fliL) were constructed using allele-coupled exchange (ACE) and the standard molecular clone method. The differences in physiological properties such as growth profile, antibiotic sensitivity, pH resistance, motility, and spore production ability between the mutant and wild-type strains (CD630) were investigated. The ΔfliL mutant and the : : fliL complementary strain were successfully constructed. After comparing the phenotypes of strains CD630, ΔfliL, and : : fliL, the results showed that the growth rate and maximum biomass of ΔfliL mutant decreased than that of CD630. The ΔfliL mutant showed increased sensitivity to amoxicillin, ampicillin, and norfloxacin. Its sensitivity to kanamycin and tetracycline antibiotics decreased, and the antibiotic sensitivity partially returned to the level of CD630 strain in the : : fliL strain. Moreover, the motility was significantly reduced in the ΔfliL mutant. Interestingly, the motility of the : : fliL strain significantly increased even when compared to that of the CD630 strain. Furthermore, the pH tolerance of the ΔfliL mutant significantly increased or decreased at pH 5 or 9, respectively. Finally, the sporulation ability of ΔfliL mutant reduced considerably compared to the CD630 strain and recovered in the : : fliL strain. We conclude that the deletion of the fliL gene significantly reduced the swimming motility of C. difficile, suggesting that the fliL gene is essential for the motility of C. difficile. The fliL gene deletion significantly reduced spore production, cell growth rate, tolerance to different antibiotics, acidity, and alkalinity environments of C. difficile. These physiological characteristics are closely related to the survival advantage in the host intestine, which is correlated with its pathogenicity. Thus, we suggested that the function of the fliL gene is closely related to its motility, colonization, environmental tolerance, and spore production ability, which consequently affects the pathogenicity of C. difficile.

A long-term evaluation of periodontal phenotypes before and after the periodontal-orthodontic-orthognathic combined treatment of lower anterior teeth in patients with skeletal Angle class Ⅲ malocclusion / 北京大学学报(医学版)

OBJECTIVE@#To evaluate the changes of periodontal phenotype (width of keratinized gingiva, thickness and height of alveolar bone) of lower anterior teeth in patients with skeletal class Ⅲ malocclusion before and after the periodontal-orthodontic-orthognathic combined treatment.@*METHODS@#In the study, 20 patients with skeletal class Ⅲ malocclusion (6 males and 14 females) completed the periodontal-orthodontic-orthognathic combined treatment were included from March 2017 to June 2022, with 39 central incisors, 40 lateral incisors and 40 canines. The mean age was (25.40±4.27) years (20-34 years). The mean follow-up time was (3.70±1.05) years from the beginning of periodontal corticotomy regenerative surgery (PCRS) to the end of the combined treatment. Cone-beam computed tomography (CBCT) was used to measure the thickness, area and height of alveolar bone by the same researcher, taken before the PCRS (T0), 6 months after the PCRS (T1), 12 months after the PCRS (T2), before the orthognathic surgery (T3), and after the periodontal-orthodontic-orthognathic combined treatment (T4). The periodontal clinical parameters were used to evaluate changes in the soft tissue by another researcher, measured before the PCRS (T0) and after the combined treatment (T4). Changes of soft and hard tissue were evaluated by the periodontal phenotype.@*RESULTS@#The width of keratinized gingiva increased significantly (all P < 0.001) in lower anterior teeth, the central incisors, lateral incisors and canines increased by (1.82±1.57) mm, (2.03±1.48) mm and (2.05±1.27) mm, respectively. The proportion of thick periodontal biotype in the central and lateral incisors increased significantly (all P < 0.001), while the changes of periodontal biotypes in the lower canines were not obvious. The thickness of labial alveolar bone of lower anterior teeth all increased significantly after periodontal corticotomy regenerative surgery and the combined treatment (all P < 0.001). The area of labial alveolar bone of lower anterior teeth also increased significantly after the combined treatment (all P < 0.001). The whole area of labial and lingual alveolar bone of central and lateral incisors increased (P < 0.001), while the whole area of canines remained the same. All The height of the alveolar bone increased (all P < 0.001) on the labial side after the treatment.@*CONCLUSION@#The periodontal phenotypes of lower anterior teeth were significantly improved after the periodontal-orthodontic-orthognathic combined treatment in patients with skeletal Angle class Ⅲ malocclusion. The improvement was long-termly stable, and the periodontal risk was reduced.

Thyroid hormone sensitivity and obesity phenotype in euthyroid subjects / 中华内分泌代谢杂志

Objective:To explore the relationship between thyroid hormone sensitivity and obesity phenotype in people with normal thyroid function.Methods:In this retrospective study, 6155 euthyroid subjects who underwent a health check-up in the First Hospital of China Medical University between January 2017 and December 2018 were included. Participants were categorized into four obesity phenotypes according to body mass index and metabolic status. Thyroid Feedback Quantile-based Index(TFQI), Parametric TFQI, free triiodothyronine to free thyroxine ratio(FT 3/FT 4), and sum activity of peripheral deiodinases(SPINA-GD) were calculated to evaluate thyroid hormone sensitivity. Results:Compared with metabolically healthy non-obese(MHNO) phenotype, the subjects with metabolically healthy obese(MHO) or metabolically unhealthy obese(MUO) phenotype showed higher FT 3/FT 4ratio. Metabolically unhealthy non-obese(MUNO) and MUO subjects showed lower TFQI. After adjusting for confounders, FT 3/FT 4ratio was positively associated with MHO( OR 1.18, 95% CI 1.11-1.26) and MUO phenotype( OR 1.28, 95% CI 1.19-1.39). With 1 s increase of TFQI, the OR for MUNO phenotype was 0.77(95% CI 0.64-0.94). The results of Parametric TFQI and SPINA-GD were similar to TFQI and FT 3/FT 4ratio, respectively. Conclusion:In euthyroid individuals, thyroid hormone sensitivity was positively associated with increased risk for unhealthy obesity phenotypes.

Blood Group Antigens Phenotype Frequencies among Pregnant Women in Sokoto State, Nigeria

Background: Blood group antigens have been used to evaluate ethnic diversity of human populations and had been related to predisposing individuals to some diseases or may protect individuals against some diseases. They also play the most important role in success of pregnancy and blood transfusion.Aim: The aim is to determine the frequencies of some blood group antigens phenotype among pregnant women.Materials and Methods: The study is a cross sectional study conducted in the department of obstetrics and gynaecology, antenatal clinic in Usmanu Danfodiyo Teaching Hospital Sokoto, from January 2020 to September 2020. This research included 1250 consecutively -recruited pregnant women on their first antenatal visit. The blood grouping were determined using standard tube techniques for ABO, MNSs, Duffy and Kidd antigens while column agglutination card was used for Rh C, E, c, e and Kell was utilized.Results:The sociodemographic characteristics revealed that the age range of the subject was 17-48 years .where majority were within the age between 21-30 years (61.3%).Majority of the pregnant women had their first antenatal visit during second trimester of their pregnancy (59.7%). The distribution of the ABO blood group revealed that 48.5% were group O, 27.3% were group B, 19.4% were group A and 4.8% were group AB. Out the subjects investigated, 93.1%, 30.2%, 24.6% and 90.2% were RhD, RhC, RhE, Rhc and Rhe positive respectively. The prevalence of M, S and s positive were 75.5%, 31.4% and 63.3% respectively. Among the subjects studied, 97.6% were Kell positive while 2.4% were kell negative. The prevalence of Duffy a and b antigen were 1.1% and 0.5% respectively and the prevalence of Kidd a and b phenotype positive were 15.9% and 21.7% respectively.Conclusion: The pattern of distribution of ABO, Rh, MSs, Duffy and Kidd blood groups antigens among pregnant women in Sokoto was in agreement with other populations while that of Kell blood group antigen is at variance with other population particularly among Caucasians. Data derived from this study will help policy makers make evidenced –based decisions on management of HDFN.

Sputum Inflammatory Cells and their Impact on Asthma Control in Adults: A Prospective Study

Background: Asthma is broadly categorized as eosinophilic or noneosinophilic. Noneosinophilic asthma (NEA) can be paucigranulocytic asthma (PGA), mixed granulocytic asthma (MGA), or neutrophilic asthma (NeuA). A relationship between the cytological type of inflammation and response to treatment with inhaled corticosteroids (ICS) in asthma has been of great interest. The objective of the current study was to predict the control of asthma according to sputum inflammatory cells. Materials and methods: A total of 58 patients were evaluated. Sputum was induced and sent for cytological examination. Patients were prescribed controller and reliever medications as per the GINA guidelines. Accordingly, subjects were divided into eosinophilic, neutrophilic, mixed granulocytic, and paucigranulocytic asthma. The response to treatment was classified as poorly controlled based on ACT score. Results: Out of 58 patients, eosinophilic asthma (EA) was 24% and noneosinophilic 76% (NeuA 17%, MGA 23%, and PGA 36%). After treatment, 14 (24.13%) patients were found poorly controlled. Poor control was in 5.17% among EA and 18.97% in NEA phenotypes. Poor control was significantly higher in females, NeuA, and MGA. Peripheral eosinophilia affects control of asthma adversely. Conclusion: Pretreatment sputum analysis can predict the asthma control and steroid responsiveness. Mixed granulocytic asthma and NeuA are difficult to control, and PGA is the best responder.

Papel del ultrasonido pulmonar en la clasificación por fenotipos del SDRA por COVID-19 / Role of lung ultrasound in the classification by phenotypes of ARDS by COVID-19 / Papel da ultrassonografia pulmonar na classificação por fenótipos da SDRA por COVID-19

Resumen: Introducción: La mayoría de los pacientes con COVID-19 mecánicamente ventilados cumplen con los criterios de Berlín para síndrome de distrés respiratorio agudo (SDRA); sin embargo, se ha observado una discrepancia entre el grado de hipoxemia y la distensibilidad pulmonar. Basados en la mecánica respiratoria y hallazgos tomográficos se han propuesto dos fenotipos distintos: L y H, cada fenotipo podría beneficiarse de estrategias de ventilación distintas; sin embargo, realizar tomografías durante la pandemia resulta complicado. Objetivo: Determinar la utilidad del ultrasonido pulmonar para diferenciar los fenotipos del SDRA por COVID-19 mediante la correlación de lung ultrasound score (LUS) y la distensibilidad del sistema respiratorio. Material y métodos: Analizamos de forma prospectiva pacientes con COVID-19 bajo ventilación mecánica invasiva a su ingreso a la unidad de cuidados intensivos (UCI). Resultados: De un total de 90 pacientes, 62% hombres, mediana 60 años, SOFA siete puntos. La incidencia del fenotipo H fue 83.3%. El puntaje de aireación (LUS) tuvo una diferencia significativa entre ambos fenotipos (p = 0.001), con un área bajo la curva de 0.797 (p < 0.001). Con punto de corte para la predicción del fenotipo H: LUS > 18 puntos (sensibilidad 82.6%, especificidad 73.3%). Conclusión: El ultrasonido pulmonar valora de forma confiable el grado de aireación pulmonar y junto con la distensibilidad permite clasificar por fenotipos a los pacientes con SDRA por COVID-19.

Abstract: Introduction: Most mechanically ventilated COVID-19 patients meet the Berlin criteria for acute respiratory distress syndrome (ARDS), however, a discrepancy between the degree of hypoxemia and pulmonary distensibility has been observed. Based on respiratory mechanics and tomographic findings two distinct phenotypes have been proposed: L and H, each phenotype could benefit from distinct ventilation strategies, however, performing tomographic scans during pandemic is complicated. Objective: To determine the usefulness of lung ultrasound to differentiate ARDS phenotypes by COVID-19, by correlating LUS and respiratory system distensibility. Material and methods: We prospectively analyzed patients with COVID-19 under invasive mechanical ventilation on admission to the ICU. Results: Of a total of 90 patients, 62% men, median 60 years, SOFA 7 points. The incidence of phenotype H was 83.3%. LUS had a significant difference between both phenotypes (p = 0.001), with an area under the curve of 0.797 (p < 0.001). With cutoff point for phenotype H prediction: LUS >18 points (sensitivity 82.6%, specificity 73.3%). Conclusion: Lung ultrasound reliably assesses the degree of pulmonary aeration and, together with distensibility, allows the classification of patients with ARDS by COVID-19 phenotypes.

Resumo: Introdução: A maioria dos pacientes com COVID-19 ventilados mecanicamente atende aos critérios de Berlim para SDRA, no entanto, foi observada uma discrepância entre o grau de hipoxemia e a complacência pulmonar. Com base na mecânica respiratória e nos achados tomográficos, dois fenótipos diferentes foram propostos: L e H, cada fenótipo poderia se beneficiar de diferentes estratégias de ventilação, porém, realizar a tomografia durante a pandemia é complicado. Objetivo: Determinar a utilidade da ultrassonografia pulmonar para diferenciar os fenótipos de SDRA por COVID-19, correlacionando LUS e complacência do sistema respiratório. Material e métodos: Analisamos prospectivamente pacientes com COVID-19 sob ventilação mecânica invasiva na admissão à UTI. Resultados: De um total de 90 pacientes, 62% homens, idade média de 60 anos, SOFA 7 pontos. A incidência do fenótipo H foi de 83.3%. O LUS apresentou diferença significativa entre os dois fenótipos (p = 0.001), com área sob a curva de 0.797 (p < 0.001). Com ponto de corte para a predição do fenótipo H: LUS > 18 pontos (sensibilidade 82.6%, especificidade 73.3%). Conclusão: A ultrassonografia pulmonar avalia de forma confiável o grau de aeração pulmonar e, juntamente com a distensibilidade, permite que os pacientes com SDRA por COVID-19 sejam classificados por fenótipos.

Association of metabolic syndrome with different phenotypes of polycystic ovarian syndrome among Filipino women in a tertiary hospital: A retrospective cohort study / Philippine Journal of Obstetrics and Gynecology

Introduction@#Polycystic ovarian syndrome (PCOS) is a common endocrinopathy affecting women during reproductive age. Women affected by PCOS generally have a higher risk of developing Metabolic syndrome (MetS). MetS on each phenotype of PCOS reflects some phenotypes with worse metabolic profiles and a higher risk of developing long-term complications in women with PCOS.@*Objective@#To determine the association of MetS with different phenotypes of PCOS among Filipino women in a tertiary hospital.@*Materials and Methods@#This is a retrospective cohort study of 154 women in a tertiary hospital, both private and service divisions@*Results@#A total of 154 patients with PCOS were analyzed in this study: 67 (43.51%) Phenotype A, 25 (16.23%) Phenotype B, 3 (1.95%) Phenotype C, and 59 (38.31%) phenotype D. The prevalence of MetS in PCOS was 69.48%, with no significant difference statistically between phenotypes. MetS was most prevalent in Phenotype A (74.63%) and least prevalent in phenotype D (62.71%). Among Filipino women with PCOS, Phenotype A had a 2.5 times increased risk of developing MetS compared to Phenotype D.@*Conclusion@#Phenotype A is the most common phenotype and has the highest prevalence in developing metabolic changes. Increasing body mass index and age played significant roles in elevating the risk of developing MetS. Early detection of MetS in all phenotypes of PCOS can aid in preventing the development of long-term complications such as cardiovascular disease and diabetes mellitus type II.

Fenotipos clínicos de la enfermedad pulmonar obstructiva crónica en los pacientes atendidos en el Hospital neumológico de La Habana / Clinical phenotypes of chronic obstructive pulmonary disease in patients treated at the Hospital Neumológico de La Habana

Introducción: La identificación de los fenotipos clínicos son claves en la modulación de la expresión clínica, para un tratamiento integrado de la EPOC. Objetivos: Caracterizar los fenotipos clínicos de la EPOC en los pacientes atendidos en el Hospital Neumológico Benéfico Jurídico. Métodos:Se realizó un estudio observacional descriptivo retrospectivo, en 172 pacientes con diagnóstico de EPOC, en el Hospital Neumológico Benéfico Jurídico durante el año 2017.Resultados: El 38,4 % de los pacientes tenían edad entre 70-79 años. Del total de pacientes, el 54,6 % eran del sexo masculino. El 52,9 % eran fumadores activos y el 41,3 % exfumadores. Aunque las diferencias no fueron significativas, la edad avanzada y el sexo masculino fueron más frecuentes en el fenotipo enfisematoso agudizador y agudizador bronquítico crónico. El tabaquismo activo fue más frecuente en el fenotipo enfisematoso agudizador. Todos los pacientes con el fenotipo agudizador bronquítico crónico tuvieron dos o más exacerbaciones, mientras que el enfisematoso agudizador se relacionó con una severidad grave de la EPOC (46,7 %). Conclusiones: El sexo masculino y la edad avanzada muestran una tendencia a relacionarse con el fenotipo enfisematoso agudizador y agudizador bronquítico crónico, mientras que el tabaquismo activo es más frecuente en el fenotipo enfisematoso agudizador. El fenotipo agudizador bronquítico crónico se relaciona con mayores exacerbaciones y el enfisematoso agudizador con una mayor severidad de la EPOC.

Introduction: The identification of clinical phenotypes are key in the modulation of clinical expression, for an integrated treatment of COPD. Objectives: To characterize the clinical phenotypes of COPD in patients treated at the Hospital Neumológico Benéfico Jurídico. Methods: A retrospective descriptive observational study was carried out in 172 patients with a diagnosis of COPD at the Hospital Neumológico Benéfico Jurídico in 2017. Results: 38.4 % of the patients were between 70-79 years of age. Of the total number of patients, 54.6 % were male. 52.9 % were active smokers and 41.3 % ex-smokers. Although the differences were not significant, advanced age and male sex were more frequent in the exacerbator emphysematous and chronic bronchial exacerbator phenotype. Active smoking was more frequent in the exacerbating emphysematous phenotype. All patients with the chronic bronchial exacerbator phenotype had two or more exacerbations, while exacerbation emphysematous was associated with severe severity of COPD (46.7 %). Conclusions: Male sex and advanced age show a tendency to be related to the exacerbating emphysematous phenotype and chronic bronchitis exacerbator, while active smoking is more frequent in the exacerbating emphysematous phenotype. The chronic bronchitis exacerbator phenotype is related to greater exacerbations and exacerbation emphysematous with a greater severity of COPD

Subfenótipos baseados em dados clínicos de beira-leito de pacientes críticos com COVID-19: um estudo de coorte / Bedside clinical data subphenotypes of critically ill COVID-19 patients: a cohort study

RESUMO Objetivo: Identificar apresentações mais graves de COVID-19. Métodos: Pacientes consecutivamente admitidos à unidade de terapia intensiva foram submetidos à análise de clusters por meio de método de explorações sequenciais Resultados: Analisamos os dados de 147 pacientes, com média de idade de 56 ± 16 anos e Simplified Acute Physiological Score 3 de 72 ± 18, dos quais 103 (70%) demandaram ventilação mecânica e 46 (31%) morreram na unidade de terapia intensiva. A partir do algoritmo de análise de clusters, identificaram-se dois grupos bem definidos, com base na frequência cardíaca máxima [Grupo A: 104 (IC95% 99 - 109) batimentos por minuto versus Grupo B: 159 (IC95% 155 - 163) batimentos por minuto], frequência respiratória máxima [Grupo A: 33 (IC95% 31 - 35) respirações por minuto versus Grupo B: 50 (IC95% 47 - 53) respirações por minuto] e na temperatura corpórea máxima [Grupo A: 37,4 (IC95% 37,1 - 37,7)ºC versus Grupo B: 39,3 (IC95% 39,1 - 39,5)ºC] durante o tempo de permanência na unidade de terapia intensiva, assim como a proporção entre a pressão parcial de oxigênio no sangue e a fração inspirada de oxigênio quando da admissão à unidade de terapia intensiva [Grupo A: 116 (IC95% 99 - 133) mmHg versus Grupo B: 78 (IC95% 63 - 93) mmHg]. Os subfenótipos foram distintos em termos de perfis inflamatórios, disfunções orgânicas, terapias de suporte, tempo de permanência na unidade de terapia intensiva e mortalidade na unidade de terapia intensiva (com proporção de 4,2 entre os grupos). Conclusão: Nossos achados, baseados em dados clínicos universalmente disponíveis, revelaram dois subfenótipos distintos, com diferentes evoluções de doença. Estes resultados podem ajudar os profissionais de saúde na alocação de recursos e seleção de pacientes para teste de novas terapias.

Abstract Objective: To identify more severe COVID-19 presentations. Methods: Consecutive intensive care unit-admitted patients were subjected to a stepwise clustering method. Results: Data from 147 patients who were on average 56 ± 16 years old with a Simplified Acute Physiological Score 3 of 72 ± 18, of which 103 (70%) needed mechanical ventilation and 46 (31%) died in the intensive care unit, were analyzed. From the clustering algorithm, two well-defined groups were found based on maximal heart rate [Cluster A: 104 (95%CI 99 - 109) beats per minute versus Cluster B: 159 (95%CI 155 - 163) beats per minute], maximal respiratory rate [Cluster A: 33 (95%CI 31 - 35) breaths per minute versus Cluster B: 50 (95%CI 47 - 53) breaths per minute], and maximal body temperature [Cluster A: 37.4 (95%CI 37.1 - 37.7)°C versus Cluster B: 39.3 (95%CI 39.1 - 39.5)°C] during the intensive care unit stay, as well as the oxygen partial pressure in the blood over the oxygen inspiratory fraction at intensive care unit admission [Cluster A: 116 (95%CI 99 - 133) mmHg versus Cluster B: 78 (95%CI 63 - 93) mmHg]. Subphenotypes were distinct in inflammation profiles, organ dysfunction, organ support, intensive care unit length of stay, and intensive care unit mortality (with a ratio of 4.2 between the groups). Conclusion: Our findings, based on common clinical data, revealed two distinct subphenotypes with different disease courses. These results could help health professionals allocate resources and select patients for testing novel therapies.

Polycystic Ovarian Syndrome: Association of Phenotypes with Prediabetes and Diabetes Mellitus Type 2, a Cross-Sectional study

Introduction@#Polycystic ovarian syndrome (PCOS) has been recognized as a risk factor for metabolic dysfunction. The objective of this study was to determine the association of each PCOS phenotype with the risk for prediabetes and diabetes mellitus (DM).@*Methods@#This was a cross-sectional study by chart review of PCOS patients classified into 4 phenotypes, who consulted at outpatient clinics in Makati Medical Center. Odds ratio using logistic regression was used to determine association between the PCOS phenotype and having prediabetes or DM Type 2.@*Results@#One hundred thirty-four records of eligible females diagnosed with PCOS classified as Phenotype D (52%), Phenotype A (22%), Phenotype C (19%) and Phenotype B (7.5%), were included. Pre-diabetes was diagnosed in 39.6%, and DM type 2 in 7.5% of the women. Univariate association of phenotype and outcome revealed that DM is significantly more common among phenotypes A and D while prediabetes is significantly most common among phenotype D. However, multivariate regression did not show any positive association between phenotypes and risk for prediabetes and DM.@*Conclusion@#Phenotypes A and C were significantly negatively associated with the risk of prediabetes or DM type 2. Obesity and abdominal adiposity were aggravating factors that increased metabolic risk.

"Atypical" Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era

ABSTRACT Neuronal Ceroid Lipofuscinosis (NCL) refers to a group of inherited lysosomal storage disorders characterized by the intracellular accumulation of ceroid-lipofuscin compounds and neurodegeneration. Fourteen genes are currently recognized with disease-causing DNA variants: PPT1/CLN1, TPP1/CLN2, CLN3, DNAJC5/CLN4, CLN5, CLN6, MFSD8/CLN7, CLN8, CTSD/CN10, GRN/CLN11, ATP13A2/CLN12, CTSF/CLN13, KCTD7/CLN14, TBCK/CLN15. In the frame of the Cordoba cohort, we studied N=51 cases. The aim of this paper is the observational and retrospective analysis of the "atypical" phenotypes. PCR-Sanger sequencing and/or massive exome sequencing were used as a screening methodology. One CLN1 subject showed an atypical prolonged (P) phenotype with null PPT1 activity and a heterozygous compound genotype: E5 c.451C>T, p.Arg151*/g.6302T>G (I3 c.363-3T>G). Other 11 CLN2 individuals (except one girl) showed TPP1 activity decreased to around 10% of the minimum value of the reference interval in leukocytes and saliva. The DNA variants E7 c.827A>T, p.Asp276Val and I7 c.887-10A>G were the most prevalent. One CLN8 individual showed an atypical congenital phenotype with a heterozygous combination of DNA variants: E2 c.1A>G, p.?/E3 c.792C>G, p.Asn264Lys. Massive sequencing was installed as a screening methodology for the precision diagnosis of atypical CLN1, CLN2, and CLN8 phenotypes. A genetic/phenotypic local registry is under construction.

Distribution of Meloidogyne species in carrot in Brazil / Distribuição de espécies de Meloidogyne em cenoura no Brasil

ABSTRACT: Root-knot nematodes (RKN - Meloidogyne spp.) are one of the most serious threats to carrot production worldwide. In Brazil, carrots are grown throughout the year, and economic losses due to RKN are reported. Since little is known on the distribution of RKN species in carrot fields in Brazil, we collected plant and soil samples from 35 fields across six states. Based on the morphology of perineal patterns, esterase phenotypes and species-specific PCR, three Meloidogyne species were identified: 60% of the fields were infested with Meloidogyne incognita, M. javanica was reported in 42.9% of the areas, whereas M. hapla was detected in 17.1% of carrot fields. Mixed populations were reported in 20% of the areas with a predominance of M. incognita + M. javanica. The combination of morphological, biochemical, and molecular techniques is a useful approach to identify RKN species.

RESUMO: Os nematoides-das-galhas (RKN - Meloidogyne spp.) são uma das mais sérias ameaças à produção de cenoura no mundo. No Brasil, as cenouras são cultivadas ao longo do ano, e as perdas econômicas devido à RKN são frequentemente relatadas. Como pouco se sabe sobre a distribuição de espécies RKN em campos de cenoura no Brasil, coletamos amostras de plantas e solo de 35 campos em seis estados. Baseado na morfologia do padrão perineal, fenótipos de esterase e/ou PCR espécie-específica, três espécies de Meloidogyne foram identificadas: 60% dos campos estavam infestados por Meloidogyne incognita, M. javanica foi encontrada em 42,9% das áreas, enquanto M. hapla foi detectada em 17,1% dos campos de cenoura. Populações mistas foram encontradas em 20% das áreas, com predominância de M. incognita + M. javanica. A combinação de técnicas morfológicas, bioquímicas e moleculares é uma abordagem útil para identificar espécies de RKN.

Circadian rhythm disorder of blood pressure in Parkinson′s disease / 中华神经科杂志

Circadian rhythm disorder of blood pressure is a common abnormal form of blood pressure in Parkinson′s disease, including abnormal circadian blood pressure pattern, nocturnal hypertension, increased blood pressure variability and awakening hypotension. The pathogenesis of circadian rhythm disorder of blood pressure in Parkinson′s disease is complex, which involves the disruption of circadian rhythm, cardiovascular dysfunction, abnormal hormone secretion and the disorders of sleep-wake cycle and structure. At the same time, it is affected by many factors such as circadian activity rhythm, emotion, anti-Parkinson′s disease drugs and so on. Studies have shown that the circadian rhythm disturbance of blood pressure is closely related to the clinical phenotypes, progression and prognosis of Parkinson′s disease. Therefore, it is suggested to enhance the screening and intervention of circadian rhythm disorders of blood pressure to optimize treatment and improve quality of life in Parkinson′s disease.

Clinical manifestations and typing of drug-induced liver injury / 临床肝胆病杂志

Drug-induced liver injury (DILI) is one of the most common and severe adverse drug reactions in humans, which may lead to liver failure and even death in some patients. Liver injury caused by different drugs has various clinical manifestations and severities, and most patients with DILI have no symptoms or have mild symptoms. There are various typing methods for DILI based on clinical features, course of disease, and pathogenesis. According to the R value, DILI can be classified into hepatocellular injury type (R ≥5), cholestasis type (R ≤2), and mixed type (2 < R < 5); according to the course of the disease, DILI can be classified into acute DILI and chronic DILI; according to the pathogenesis, DILI can be classified into intrinsic DILI, idiosyncratic DILI, and indirect DILI. A comprehensive understanding of the clinical manifestations and typing methods of DILI helps to reveal its pathogenesis and perform diagnosis and treatment in a timely manner.

Prognostic value of capillaroscopy in organ involvement and identification of subtypes in systemic sclerosis (SS): A systematic literature review / Valor pronóstico de la capilaroscopia en el compromiso de órganos e identificación de subtipos en la esclerosis sistémica (ES): una revisión sistemática de la literatura

ABSTRACT Background: Capillaroscopy is an essential tool for the diagnosis of systemic sclerosis. Using this exam as a prognostic factor will allow earlier intervention and probably, delay on disease progression. We aimed to evaluate the prognostic value of capillaroscopy for the prediction of systemic compromise and subtype differentiation in systemic sclerosis. Methods: A systematic literature search was applied in the following electronic databases: Medline, PubMed, Embase, Cochrane, and Lilacs. The research question was designed based on the PICOT model, and the search strategy was built using the MeSH terms "Microscopic Angioscopy," "Scleroderma systemic," "Scleroderma diffuse," Scleroderma Limited," "Early Diagnosis" and Boolean operators. The language was restricted to papers published in Spanish or English, from 1990 to 2019. The search terms were explored for each database, and new terms were added, as appropriate. The searches were made again before the final analyses and further studies were retrieved for inclusion at that time. Reference lists of included studies and recent aligned systematic reviews were also screened. Gray literature was not considered in this review. Results: A total of 183 articles were found in the selected databases: Medline (n: 115), Embase (n: 66), Cochrane (n: 2), Lilacs (n: 0). After excluding articles due to duplication, a total of 66 studies were selected. Within these articles, a screening process was applied based on the title and abstract, taking into account the eligibility criteria, finally obtaining 21 references. Two researchers assessed the selected articles, and all disagreements were solved by consensus. Finally, a total of 14 articles were included. Conclusions: The different abnormalities found in capillaroscopy, especially loss of capillaries, have been consistently associated not only with organ involvement but also with severity of the disease, especially with vascular manifestations (digital ulcers and pulmonary hypertension). The importance of capillaroscopy is not only its diagnostic value but also its predictive value with its consequent implications in the follow-up and management of systemic sclerosis.

RESUMEN Introducción: La capilaroscopia es una herramienta esencial para el diagnóstico de la esclerosis sistémica. Usar este examen como factor pronóstico permitirá realizar una intervención temprana y probablemente retardará la progresión de la enfermedad. Se realizó una revisión de la literatura evaluando el valor pronóstico de la capilaroscopia para predecir el compromiso sistémico de la esclerosis sistémica y su diferenciación por subtipos. Métodos: Se realizó una revisión sistemática de la literatura en las siguientes bases de datos: Medline, PubMed, Embase, Cochrane y Lilacs. La búsqueda se hizo basada en el modelo PICOT y la estrategia de búsqueda fue construida mediante los términos MeSH «Microscopic angioscopy¼, «Scleroderma systemic¼, «Scleroderma diffuse¼, «Scleroderma limited¼, «Early diagnosis¼ y operadores booleanos. El lenguaje fue restringido a artículos publicados en español e inglés desde 1990 hasta 2019. Se realizó la búsqueda en cada base de datos y se adicionaron nuevos términos según fuera apropiado. La búsqueda se realizó de nuevo al final del análisis y se incluyeron los estudios más recientes. La lista de referencias de los estudios incluidos y las revisiones sistemáticas recientemente adicionadas también fueron registradas. No se consideró literatura gris en esta revisión. Resultados: Un total de 183 artículos fueron encontrados en las siguientes bases de datos: Medline (n = 115), Embase (n = 66), Cochrane (n = 2), Lilacs (n = 0). Después de excluir los que estaban duplicados, un total de 66 estudios fueron seleccionados. Dentro de estos artículos, se realizó un proceso de selección basado en título y resumen tomando en cuenta los criterios de elegibilidad, obteniendo finalmente 21 referencias. Dos investigadores revisaron los artículos seleccionados y todas las discrepancias fueron resueltas en consenso. Finalmente, un total de 14 artículos fueron incluidos. Conclusiones: Las diferentes anormalidades encontradas en la capilaroscopia, especialmente la pérdida de capilares, han sido constantemente asociadas no solo con compromiso de órganos sino también a la severidad de la enfermedad, especialmente con manifestaciones vasculares (úlceras digitales e hipertensión pulmonar). La importancia de la capilaroscopia no solo es por su valor diagnóstico sino también por su valor predictivo en relación al seguimiento y manejo de la esclerosis sistémica.

Study of prevalence of insulin resistance and other metabolic abnormalities in various phenotypes of polycystic ovary syndrome in central India

Background: Till recent times, defining symptoms of PCOS remained a debatable topic. In 2012, National Institute of health consensus panel proposed diagnostic criteria based on phenotypes. Evidence showed higher incidence of diabetes mellitus, insulin resistance and compensatory hyperinsulinemia among women with PCOS. So, the present study was undertaken to compare the clinical, metabolic and hormonal profile among various phenotypes in women with PCOS and to find out the prevalence of insulin resistance among the PCOS phenotypes.Methods: The prospective, observational study was done on 292 women with PCOS-related infertility. These women were divided into 4 phenotypes. Ferriman-Gallwey score, HOMA-IR, OGTT, lipid parameters, hormonal parameters, mean ovarian volume and mean antral follicle counts were compared among the 4 phenotypic groups. One-way ANOVA followed by post-hoc Tukey was applied.Results: Mean weight, BMI, waist circumference, SBP, DBP and Ferriman-Gallwey score, fasting glucose, fasting insulin, OGTT (1 hour) and HOMA-IR was highest in phenotype A, while fasting glucose / insulin ratio was lowest in phenotype A. Total triglycerides, total cholesterol, LDL were higher and HDL was lowest, testosterone, mean ovarian volume and mean antral follicle count were highest and vitamin D was lowest in Phenotype A.Conclusions: Phenotype A is the group with all features of PCOS syndrome, while phenotype D is associated with milder metabolic profile. Women with phenotype A and B are at a higher risk for metabolic syndrome. Identifying various phenotypes will assist in providing appropriate treatment and prognosticating the patients with PCOS-related infertility.

Sistema Rh-Hr y variantes del antígeno D en tres poblaciones afroecuatorianas del Valle del Chota / Rh-Hr system and D antigen variants in three Afro-Ecuadorian populations in the Chota Valley / Sistema Rh-Hr e variantes do antígeno D em três populações afro-equatorianas no vale do Chota

Resumen La identificación inequívoca del antígeno D en medicina transfusional es de vital importancia para evitar reacciones postransfusionales y la enfermedad hemolítica del recién nacido. Es común el uso de reactivos serológicos monoclonales o tarjetas de gel y su interpretación está definida por cruces, de acuerdo con la reacción serológica. El propósito de este estudio fue determinar la frecuencia del factor Rh y las variantes del antígeno D en una población afroecuatoriana. Se trató de un estudio descriptivo, transversal con muestreo aleatorio simple de 541 pobladores. Para la tipificación del factor Rh se utilizó la metodología en tubo con antisueros monoclonales y para la detección de las variantes de D se utilizaron tarjetas de gel IDCoombs Anti-IgG. Las lecturas se verificaron mediante el análisis del índice kappa. Se aplicó estadística descriptiva y el análisis de Chi cuadrado para establecer la relación de las variables y su significación. Se identificó una frecuencia del 92% de individuos Rh(D) positivo y un 8% Rh(D) negativo. El 4,80% de los individuos presentaban la variante D débil y el 79% reacciones serológicas entre 2 y 3(+) indicativas de otras variantes del antígeno D. El fenotipo más común fue el R0/R0. Estos datos demuestran la necesidad de confirmar la existencia de variantes del antígeno D en esta población para un mejor manejo de la sangre. Una limitante constituye la disponibilidad de técnicas moleculares para la genotipificación de D; sin embargo, se podría implementar la fenotipificación RHCE como estrategia pretransfusional.

Abstract The unequivocal identification of D antigen in transfusion medicine is of vital importance to avoid post-transfusion reactions and hemolytic disease of the newborn. The use of monoclonal serological reagents or gel cards is common and their interpretation is defined according to the serological reaction by crosses. The purpose of this study was to determine the frequency of Rh factor and D antigen variants in the Afro-Ecuadorian population. This was a descriptive, cross-sectional study with simple random sampling of 541 residents. Tube typing with monoclonal antisera was used to typify Rh factor and ID-Coombs Anti-IgG gel cards were used to detect D variants, and the readings were verified by analysis of the kappa index. Descriptive statistics and Chi-square analysis were applied for the relationship of the variables and their significance. A frequency of 92% of Rh(D) positive individuals and 8% Rh(D) negative individuals were identified. Almost 5% (4.80%) of the individuals presented the weak D variant and 79% serological reactions between 2-3(+) indicative of other D antigen variants, the most common phenotype being R0/R0. These data demonstrate the need to confirm the existence of D antigen variants in this population for better management and availability of blood. A limitation is the availability of molecular techniques for D genotyping, however, RHCE phenotyping could be implemented as a pretransfusion strategy.

Resumo A identificação inequívoca do antígeno D na medicina transfusional é de vital importância para evitar reações pós-transfusionais e a doença hemolítica do recém-nascido. É comum o uso de reagentes sorológicos monoclonais ou cartões de gel e sua interpretação é definida por cruzamentos de acordo com a reação sorológica. O objetivo deste estudo foi determinar a frequência do fator Rh e as variantes do antígeno D numa população afro-equatoriana. Foi um estudo descritivo, transversal, com amostragem aleatória simples de 541 residentes. Para a tipagem do fator Rh foi utilizada a metodologia em tubo com anti-soros monoclonais e para a detecção das variantes de D, os cartões de gel ID-Coombs Anti-IgG. As leituras foram verificadas por análise do índice kappa. Foi aplicada estatística descritiva e para estabelecer a relação das variáveis e sua significação se utilizou a análise do qui-quadrado. Identificando uma frequência de 92% dos indivíduos Rh (D) positivos e 8% Rh (D) negativos. 4,80% dos indivíduos apresentavam a variante D fraca e 79% reações sorológicas entre 2 e 3(+) indicativas de outras variantes do antígeno D, sendo o fenótipo mais comum o R0/R0. Esses dados demonstram a necessidade de confirmar a existência de variantes do antígeno D nessa população para melhor gerenciamento e disponibilidade de sangue. Uma limitação é a disponibilidade de técnicas moleculares para a genotipagem de D, no entanto, a fenotipagem de RHCE poderia ser implementada como uma estratégia de pré-transfusão.

Hipertensão do avental branco, existe risco cardiovascular? / White coat hypertension, is there any cardiovascular risk?

O diagnóstico, tratamento e acompanhamento da Hipertensão Arterial Sistêmica (HAS) tem como parâmetro principal a medida de consultório, mas, para uma melhor avaliação devemos lançar mão de métodos que permitam maior número de medidas, e que contemplam atenuação das interferências do meio, da situação e do observador. Métodos como a MAPA (Monitorização Ambulatorial da Pressão Arterial) de 24 horas ou as medidas domiciliares da PA, Monitorização Residencial da PA (MRPA) (MAPA 5D) e a Automedida da PA (AMPA), permitem uma caracterização dos fenótipos de pacientes investigados para HAS, permitindo a definição da hipertensão do avental branco (HAB) uma situação com elevação persistente da PA no consultório médico ou clínica, associada a uma pressão nos limites considerados normais em outros ambientes. A HAB foi por muito tempo comparada a um risco cardiovascular semelhante ao da normotensão arterial (NT), entretanto, estudos recentes revelam a existência de um risco cardiovascular (CV) mais acentuado para os pacientes com HAB no acompanhamento a longo prazo. A linha de investigação dos recentes estudos, que na sua quase totalidade são observacionais e metanálises, nos faz aguardar publicações mais robustas, que permitam dirimir duvidas ainda existentes

The diagnosis, treatment and follow-up of Systemic Arterial Hypertension (SAH) has the office measurement as its main parameter, but, for a better assessment, we must use methods that allow a greater number of measures, and with mitigation of the interference of the environment, the situation and the observer. Methods such as 24-hour MAP or household BP measurements, Residential BP Monitoring (MAP 5D) and BP Self-Measurement (AMPA), allow a characterization of the phenotypes of patients investigated for SAH, allowing the definition of white coat hypertension (WCH) a situation with persistent elevation of BP in the doctor's office or clinic, associated with pressure in the limits considered normal in other environments. WCH has long been compared to a cardiovascular risk similar to that of arterial normotension, however, recent studies reveal the existence of a more pronounced CV risk for WCH patients in long-term follow-up. The line of investigation of the recent studies, which are almost entirely observational and meta-analyzes, makes us await more robust publications, which allow us to resolve doubts that still exist

Speciation of Enterococcus species: better way to deal with clinical infections at resource limited settings

Background: Enterococcus species are well known for its intrinsic resistance pattern to several antibiotics. Hence, appropriate management and prevention is essential in any healthcare facility. Present study was conducted to establish an accessible biochemical tests to differentiate Enterococcus species at resource limited settings.Methods: Enterococci isolated from various clinical specimens were speciated using an array of biochemical reactions and antimicrobial susceptibility testing was performed by Kirby-Bauer disc diffusion method. Results were interpreted as per Clinical and Laboratory Standards Institute (CLSI) guidelines.Results: Out of 107 enterococcal isolates, 63(59%) were E. faecium, 40(37%) were E. fecalis, 2(2%) were E. hirae, 1(0.9%) was E. raffinosus and 1(0.9%) was E. gallinarum. E. faecium and E. fecalis showed 23% and 7% vancomycin resistance respectively, while E. gallinarum showed low level vancomycin resistance.Conclusions: Enterococcus speciation can be done using simple biochemical reactions and its susceptibility pattern enables to distinguish Van phenotypes too. Hence, it is helpful for management of infections in resource limited settings to a greater extent.