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Background: Acute hepatic porphyrias (AHP) represent a rare group of inherited metabolic disorders of heme biosynthesis pathway. This study aims to determine the diagnostic and prognostic value of serum neurofilament light chain (NfL) as potential biomarker for AHP., Methods: We conducted a cross-sectional observational study to evaluate NfL levels in patients with AHP. They were divided in different groups: normal health individuals; patients with definitive diagnosis of AHP during acute episodes; patients with AHP and infrequent attacks; patients with AHP and recurrent attacks; asymptomatic individuals with positive genetic testing and urinary delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) levels elevated 4 or more times ("high excretors"); asymptomatic individuals with exclusive positive genetic test; control group with Hereditary Amyloidosis related to Transthyretin with Polyneuropathy (ATTRv-PN)., Results: During acute attacks, serum NfL levels were 68 times higher compared to normal controls and disclosed a strong correlation with ALA and PBG levels; also exhibited elevated levels in patients with chronic symptoms regardless of the number of disease attacks compared to healthy controls, and at similar levels to patients with ATTRv-PN, which is a model of progressive neuropathy., Conclusion: This study represents the first to establish NfL as a biomarker for AHP, disclosing NfL as a sensitive biomarker for axonal damage and chronic symptom occurrence. This study not only underscores that neurological damage associated with the disease in any patient, irrespective of the number of attacks, but also reinforces the progressive and profoundly debilitating nature of acute and chronic symptoms observed in individuals with AHP., Competing Interests: The authors declare that financial support was received from Alnylam Pharmaceuticals for the research, medical writing and/or publication of this article. PS had received funding as scientific advisory member of Alnylam Pharmaceuticals, Biogen, Janssen, and Sanofi. PS had received funding for lectures from Alnylam Pharmaceuticals, Biogen, Novartis, Pfizer, and Sanofi., (Copyright © 2024 Sgobbi, Serrano, Badia, Farias, Oliveira, Barbosa, Pereira, Moreira, Pinto, Oliveira and Pinto.)

Background: Porphyrias are a rare group of disease due to inherited defects of heme synthesis with important systemic manifestations and great burden of disease for patients and families due to the exceptional course of disease with disabling chronic symptoms interposed by life-threatening acute attacks. Unfortunately, the porphyrias are usually underrecognized reflecting a lack of medical and disease awareness as well as few studies about natural history in large cohorts of patients. The main aim of this article is present consistent data about natural history and burden of disease in a large Brazilian cohort., Methods: We conducted a national cross-sectional registry with retrospective clinical data of Brazilian patients with porphyria collected with Brazilian patients Association with Porphyria in collaboration with a tertiary care center for rare diseases., Results: A cohort of 172 patients was analyzed in which 148 (86%) patients had the diagnosis of acute hepatic porphyria [AHP] that needed a mean of 62.04 medical visits and 9.6 years to achieve a definitive diagnosis. About AHP cohort, the most common first clinical manifestation were abdominal pain in 77 (52%) patients and acute muscle weakness in 23 (15.5%) with 73 (49.3%) patients presenting only one attack during disease course and 37 (25%) exhibiting 4 or more attacks in the last year. Of note, 105 patients with AHP reported chronic manifestations and the scores for quality of life are lower when compared with general healthy population., Conclusions: Brazilian patients with AHP had a higher prevalence of chronic disabling manifestations and a poor quality of life like other cohorts and a higher proportion of patients with recurrent attacks than previously reported., (© 2023. The Author(s).)

Purpose: To verify evidence of subclinical alterations through self-reported participation restrictions in normal hearing individuals and congenital hypothyroidism patients., Methods: An analytical, quantitative, cross-sectional exploratory study with a 1:1 ratio, consisting of a convenience sample of 86 normal hearing individuals with (n = 42) and without (n = 44) congenital hypothyroidism diagnosis. All participants underwent tonal and speech audiometry, immitance and distortion product otoacoustic emissions. The researchers excluded people with hearing loss, genetic syndromes and metabolic diseases. The instrument used for evaluate of self-reported participation restrictions was the HHIE-adapted questionnaire, composed of 25 questions, 12 of which were social domain and 13 emotional domain. Student's t-test and chi-square test were used for statistical analysis at a significance level of 5%., Results: There was a significant (p < 0.001) self-reported participation restrictions in CH (61.9%), with a greater relevance for the social domain (p = 0.002). There was a greater frequency of mild/moderate (40.5%) and higher prevalence of association with clinical factors and adherence to treatment., Conclusion: The findings indicate that self-reported participation restrictions in normal hearing individuals with congenital hypothyroidism was more significant than in the non-exposed group, suggesting evidence of subclinical auditory abnormalities in this population.

This study assessed the effect of both embryonic thermal manipulation and dietary threonine level on the response of broilers inoculated with Salmonella Enteritidis, considering bacterial counts in the cecal contents, intestinal morphology, mucin and heat shock protein 70 gene expression, body weight and weight gain. Thermal manipulation was used from 11 days of incubation until hatch, defining three treatments: standard (37.7°C), continuous high temperature (38.7°C) and continuous low temperature (36.7°C). After hatch, chicks were distributed according to a 3x2+1 factorial arrangement (three temperatures and two threonine levels and one sham-inoculated control). At two days of age, all chicks were inoculated with Salmonella Enteritidis, except for the sham-inoculated control group. There was no interaction between the factors on any analyses. High temperature during incubation was able to reduce colonization by Salmonella Enteritidis in the first days, reducing both Salmonella counts and the number of positive birds. It also increased mucin expression and decreased Hsp70 expression compared with other inoculated groups. High temperature during incubation and high threonine level act independently to reduce the negative effects associated to Salmonella Enteritidis infection on intestinal morphology and performance, with results similar to sham-inoculated birds. The findings open new perspectives for practical strategies towards the pre-harvest Salmonella control in the poultry industry.

Although aging is commonly linked to a reduction in joint range of motion, it is unclear if all body joints behave similarly. To address this issue, the main purpose of this study was to compare age-related loss of mobility of seven body joints. A total of 6,000 participants (3,835 men and 2,165 women) aged 5 to 92 years took part in this study. The maximal passive range of motion of 20 movements was evaluated by Flexitest, and each movement was scored from 0 to 4. Composite scores were obtained for each of seven joints and for overall flexibility (Flexindex (FLX)) by adding individual movement scores. Confirming previous findings, FLX systematically decreased with aging (p < .001), with female participants being more flexible for all ages (p < 0.001) and having a more gradual, 0.6% vs. 0.8%/year, age reduction (p < .001). Starting at 30 and 40 years, respectively, for male and female participants, the relative contribution of each composite joint score to FLX dramatically changed. Shoulder contribution to FLX male's score went from 13.9% at 28 years of age to only 5.2% at 85 years of age. In general, proportionally, shoulder and trunk became less flexible, while elbow and knee mobility was preserved to a greater extent. Our findings indicated that age-related loss of mobility is rather joint-specific, which could be related to distinct routine usage patterns of the major body joints along life.

The present study aimed to investigate counseling content provided by healthcare professional for primary healthcare users, as well as users' difficulties in adhering to the counseling, through a cross-sectional study design. Interviews were conducted with 499 users at a primary healthcare unit and 59.3% of them said that counseling had been provided especially by physicians (93.6%), and it was based on healthy nutrition and physical activity practice (48.9%). Counseling was more frequently to users with greater numbers of morbid conditions (p = 0.001). The main factors that made adherence difficult for users were lack of time (27.5%) and the need to change habits (23%). It was identified that counseling is still at initial stage within primary care, and there is a need for healthcare professionals, especially the nurse of the family health team to be more proactive in this process,focusing mainly on health promotion.

This study aimed to analyze the incidence of tuberculosis (TB), AIDS and tuberculosis-AIDS co-infection in the municipality of Campinas, in the state of São Paulo, Brazil, in the period 2001 - 2009. A historical trend study, it uses secondary data from the Tuberculosis Surveillance Database of the University of Campinas (UNICAMP) and the São Paulo State STD-AIDS Center of Excellence and Training. It included new cases of TB, AIDS, and of tuberculosis-AIDS reported in the municipality of Campinas. A decrease in cases of TB until 2007 was observed, with an increase in 2008 and 2009. There was a general reduction in AIDS from 2007, but with an increase among men aged 60 or over, in the years 2007 to 2009. For tuberculosis-AIDS co-infection, the tendency was to reduce. The proportion of HIV tests not undertaken, among patients with tuberculosis, was high (27.5%). This scenario shows the need for integration of the databanks into the planning and control activities.

Background: In the past, isometric exercises were proscribed for heart disease. However, recent evidence suggests that an isometric handgrip training (IHT) protocol - four sets of two minutes at 30% of maximum strength - produces favorable effects on the autonomic modulation and reduces resting systolic (SBP) and diastolic (DBP) blood pressure., Objective: Aiming at obtaining support for broad clinical applicability, we quantified the main hemodynamic responses during an IHT session in patients from a supervised physical exercise program., Methods: Forty-one patients (36 men) underwent the IHT with measurements of heart rate (HR) and BP before, during each of the two series performed with the left arm and one minute after completion. Measurements were obtained by an electrocardiogram signal in a digital Tango + oscillometric tensiometer, previously validated for physical exercise conditions., Results: The IHT was appropriately carried out, with no clinical adverse reactions. There was a small increase in SBP and DBP levels, respectively, of 16 and 7 mmHg (p <0.05) and an even smaller increase in HR - 3 bpm - (p <0.05) when we compared the data obtained at 80 seconds of the last series with the pre-exercise, Conclusion: IHT was well tolerated by patients undergoing exercise programs, resulting in a transient and modest hemodynamic effect, without inducing rapid cardiac vagal inactivation, characteristic of dynamic and short exercises.

Objective: To estimate the prevalence of alcohol abuse/dependence and identify associated factors among demographic, family, socioeconomic and mental health variables., Methods: A household survey was carried out in the urban area of Campinas, southeastern Brazil, in 2003. A total of 515 subjects, aged 14 years or more were randomly selected using a stratified cluster sample. The Self-Report Questionnaire and the Alcohol Use Disorder Identification Test were used in the interview. Prevalences were calculated, and univariate and multivariate logistic analyses performed by estimating odds ratios and 95% confidence intervals., Results: The estimated prevalence of alcohol abuse/dependence was 13.1% (95% CI: 8.4;19.9) in men and 4.1% (95% CI: 1.9;8.6) in women. In the final multiple logistic regression model, alcohol abuse/dependence was significantly associated with age, income, schooling, religion and illicit drug use. The adjusted odds ratios were significantly higher in following variables: income between 2,501 and 10,000 dollars (OR=10.29); income above 10,000 dollars (OR=10.20); less than 12 years of schooling (OR=13.42); no religion (OR=9.16) or religion other than Evangelical (OR=4.77); and illicit drug use during lifetime (OR=4.47). Alcohol abuse and dependence patterns were different according to age group., Conclusions: There is a significantly high prevalence of alcohol abuse/dependence in this population. The knowledge of factors associated with alcohol abuse, and differences in consumption patterns should be taken into account in the development of harm reduction strategies.

A cross-sectional study was designed to identify which social problems from a list of 17 were considered important and to analyze differences in perception among interviewees according to socio-demographic variables and presence of common mental disorders. A household survey was performed in Campinas, São Paulo, Brazil, with a stratified cluster sample of urban residents aged 14 years or older (N = 515) using the WHO/SUPRE-MISS interview and SRQ-20. Weighted prevalence and crude prevalence ratio with respective 95%CI were calculated. Multiple analyses were performed using Poisson regression. Drug traffic, drug abuse, unemployment, crime, and alcohol abuse were considered severe by more than 45% of the sample. Women and individuals living in medium-low income areas attributed greater severity to drug traffic, alcohol and drug abuse, child and spousal abuse, unemployment, and poverty. Females and individuals with positive SRQ-20 identified problems related to education as more severe. Differences in perception according to socioeconomic status and gender were observed, with women and low-income residents showing the greatest susceptibility.

This paper aims to identify variables associated with suicidal ideation during the previous 12 months in the city of Campinas, São Paulo, Brazil. Using a case-control design, risk factors for suicidal ideation were investigated through analysis of independent variables related to the individual, family, and health. Some 29 cases of suicidal ideation and 166 controls were interviewed. Cases were identified through a previous cross-sectional study, and controls were randomly selected from the same population base among those with no history of suicidal ideation in the previous 12 months. Regression models were used to control for confounders and effect modifiers. According to the results, demographic variables were not associated with suicidal ideation. In the final model, the variables that remained statistically significant were depressive symptoms, emotional difficulties, lack of neighborhood support, and less frequent church attendance. Suicidal ideation was consistently associated with factors related to depressive symptoms, especially lack of energy and depressed mood.

Objective: To describe the incidence of tuberculosis among inmates of the municipal prison system in the city of Campinas, State of São Paulo, Brazil, from 1993 through 2000., Methods: A retrospective study was carried out of the number of cases of tuberculosis that were notified among inmates over the study period. This involved reviewing data from a total of 4,293 inmates who were held in the four prisons that comprise Campinas' municipal prison system. Data were obtained from the tuberculosis database belonging to the Department of Social and Preventive Medicine of the School of Medical Sciences at the State University of Campinas., Results: The incidence of tuberculosis peaked in 1994 (1,397.62 cases per 100,000) and was lowest in 1999 (559.04 cases per 100,000). Most cases of tuberculosis occurred in inmates in the 25 to 34 year age group (62.6%). Acquired immunodeficiency syndrome (AIDS) was the disease most commonly associated with tuberculosis (49.9%), which was most often pulmonary in type (91.9%), with positive sputum smears in 70.3% of the inmates tested. Most inmates had not received treatment before (75.4%). The treatment dropout rate reached 49%, and a cure was achieved in only 20.8% of the cases notified over the study period., Conclusions: The incidence of tuberculosis observed in this study was moderate when compared to incidence rates found in other studies of prison inmates, but this could be due to underreporting. The frequency of treatment failure noted was low, since patients who were treated under supervision showed good adherence and were cured in the majority of cases. However, the high treatment dropout rate seen in the study is alarming because it could facilitate the spread of drug resistant strains of Mycobacterium tuberculosis to the community at large. Controlling tuberculosis among prison inmates should be part of routine interventions aimed at eliminating this disease from the community and at preventing resistance to antituberculosis therapy.

Objective: To investigate the molecular epidemiology of systemic nosocomial infections caused by Enterobacter cloacae., Setting: Neonatal intensive care unit (NICU) of a tertiary-care university hospital., Patients: Forty-two high-risk neonates with systemic infections caused by E. cloacae., Methods: From 1995 to 1997, the variables associated with death in these patients were evaluated. The molecular epidemiology of the strains responsible for the systemic infections, and 14 unrelated strains, was studied using plasmid analysis and pulsed-field gel electrophoresis (PFGE)., Results: The overall mortality rate for infection caused by E. cloacae was 34%, whereas the crude mortality rate during the study period was 8.12% (P < .001). Gestational age (preterm neonates) and birth weight (small for gestational age) were not associated with a higher risk of death. Insertion of a venous catheter by dissection of a peripheral vein was the only invasive procedure related to death (P = .016) in this study. A molecular analysis showed that three outbreaks, each occurring in a different year, were caused by strains with distinctive DNA profiles. Only one outbreak was identified by the infection control service, in the NICU. Plasmid analysis and PFGE showed similar ability to discriminate control strains from the E. cloacae strains isolated from the neonates., Conclusions: Systemic infections caused by E. cloacae in our NICU were associated with a high mortality rate and occurred as small, unrecognized outbreaks. These results may not be generalizable because the data were from a single center.

The persistence of tuberculosis bacilli in patients who are cured, thus causing recurrence, is an important issue. This case-control study investigated individual and institutional risk factors for relapse by analyzing independent variables related to the patient, the use of antituberculosis drugs, and the service delivered at health care institutions; 56 cases and 105 controls were interviewed. Recurrence was defined as a new tuberculosis episode after the patient had been successfully treated. Controls were selected from among patients who were treated and cured of pulmonary tuberculosis and who did not experience a relapse. Regression models were proposed to control confounding factors or effect modifiers. The variables identified as risk factors for relapse were those related to erratic patient behavior (missing medical appointments and therefore not picking up the medication, not taking the medication, taking the wrong dosage), age, and stress from life events; adverse reactions to antituberculosis drugs; and problems in the organization of health care services that resulted in patients receiving insufficient dosages or amounts of antituberculosis drugs. Receiving information regarding treatment duration provided protection against recurrence. The knowledge regarding these risk factors should result in more intensive follow-up and in more use of directly observed treatment of tuberculosis in order to prevent relapse.