Effect of physical activity on the relationship between adiposity and cardiac autonomic modulation in female breast cancer survivors: a longitudinal study.

This longitudinal study aimed to analyze the influence of physical activity (PA) on the relationship between body adiposity and cardiac autonomic modulation (CAM) in women survivors of breast cancer. We collected body adiposity through electrical bioimpedance considering body fat percentage (BFP), CAM through heart rate variability (considering RMSSD, SDNN, PNN50, LF (m2), HF (m2), SD1 indexes and SD1/SD2 ratio) and PA through a questionnaire in 64 participants (58.0 ± 9.6 years), recruited through the local association of support for breast cancer and by direct indications from city mastologists. After insertion of PA into the multivariate statistical model, significant attenuation was observed in the relationship between body adiposity and CAM for the indices: SDNN (ß = -0.94; 95 percent CI: -1.93; 0.04; p = .060) and SD1/SD2 (ß = -0.01;95 percent CI = -0.02; 0.001; p = .065). In conclusion, it was observed that PA was able to mitigate the relationships between BFP and CAM (considering SDNN index and SD1/SD2 ratio) in breast cancer survivors.

Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.

Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by reduced visual acuity, nystagmus, photophobia, and very poor or absent color vision. Pathogenic variants in six genes encoding proteins composing the cone phototransduction cascade (CNGA3, CNGB3, PDE6C, PDE6H, GNAT2) and of the unfolded protein response (ATF6) have been related to ACHM cases, while CNGA3 and CNGB3 alone are responsible for most cases. Herein, we provide a clinical and molecular overview of 42 Brazilian patients from 38 families affected with ACHM related to biallelic pathogenic variants in the CNGA3 and CNGB3 genes. Patients' genotype and phenotype were retrospectively evaluated. The majority of CNGA3 variants were missense, and the most prevalent CNGB3 variant was c.1148delC (p.Thr383Ilefs*13), resulting in a frameshift and premature stop codon, which is compatible with previous publications in the literature. A novel variant c.1893T>A (p.Tyr631*) in the CNGB3 gene is reported for the first time in this study. A great variability in morphologic findings was observed in our patients, although no consistent correlation with age and disease stage in OCT foveal morphology was found. The better understanding of the genetic variants landscape in the Brazilian population will help in the diagnosis of this disease.

Comparison of Quality of Life in Breast Cancer Survivors with and without Persistent Depressive Symptoms: A 12-Month Follow-Up Study.

Although breast cancer treatments reduce mortality, their adverse effects can increase depression which impacts one's quality of life (QoL). Physical activity (PA) seems to improve the QoL of breast cancer survivors (BCS). However, an unanswered question is the influence of PA on the QoL in BCS with depressive symptoms. Thus, we analyzed the influence of PA on the QoL in BCS with persistent depressive symptoms during 12 months of follow-up. The sample included 70 female BCS. Depression and QoL domains (i.e., functional capacity, physical limitations, body pain, general health status, vitality, social and emotional aspects, and mental health) were assessed at baseline and follow-up periods by the Hospital Anxiety and Depression Scale and SF-36, respectively. Habitual PA was assessed by Baecke's questionnaire. Our results indicate a prevalence of 17.1% of depressive symptoms. Non-depressives BCS improved their physical limitations and general health status domains over time, but there were no observed differences in depressive BCS. BCS with persistent depressive symptoms (baseline and follow-up) showed worse QoL scores than non-depressives in all domains, regardless of confounding factors. When adjusted for PA, the difference between BCS depressives and non-depressives lost its significance in the functional capacity domain. In conclusion, habitual PA practice positively influenced the functional capacity domain of the QoL in BCS.

Meningoencephalitis of unknown origin in dogs

Background: Meningoencephalitis of unknown origin (MUO) is a critical cause of neurological disorders in dogs, mainly affecting small young individuals. Its symptomatology is varied and depends on the affected neuroanatomic region. The ante mortem diagnosis of this condition is uncertain, being achieved by discarding other conditions and often occurring definitively only by performing a necropsy. Thus, this study aims to report 2 cases of meningoencephalitis, one necrotizing and the other granulomatous in dogs. Cases: Case 1. A 3-year-old, Shih Tzu bitch with a body weight of 4 kg, showing proprioceptive ataxia, behavior of walking in circles, and evolving rapidly to non-ambulatory paresis, was treated. The neurological examination showed a posture of decerebrate stiffness and absence of withdrawal reflex and proprioception, suggesting brainstem injury. Laboratory tests showed mild neutrophilia and lymphopenia, while the rapid test for distemper was non-reactive. The cerebrospinal fluid (CSF) analysis showed lymphocytic pleocytosis, and the PCR tests of the CSF, blood, and urine for the detection of infectious diseases were negative, as well as the culture. With no improvement in clinical condition and exams showing a progressive degenerative condition unresponsive to available treatments, the tutor opted for euthanasia of the patient. The subsequently requested necropsy confirmed the diagnosis of granulomatous meningoencephalitis. Case 2. This case refers to a 1-year-and-5-month-old male Maltese breed weighing 4.8 kg. This animal presented walking in circles behavior and loss of vision for a week, with signs worsening rapidly. In the neurological evaluation, the patient presented sensitivity in the middle ear, difficulty opening the mouth, hearing deficit in the right ear, blindness in the right eye, a proprioceptive deficit in the right anterior limb, and head pressing. Laboratory tests showed nonregenerative anemia and mild lymphopenia. After 1 day of hospitalization, the patient showed worsening clinical condition, with obstruction, absence of facial and auricular sensitivity, and nasal stimulus. In addition, onset of generalized seizures was observed; therefore, CSF was analyzed, which did not present significant alterations except for detecting reactive lymphocytes. The bacteriological culture of CSF resulted in no bacterial growth. In addition, the same neurological PCR panel performed for the previous patient was negative. After 5 days of intensive care, the patient presented a cardiorespiratory arrest and died. The subsequently requested necropsy confirmed the diagnosis of necrotizing meningoencephalitis. Discussion: The 2 reported cases confirm that MUO should be considered during the differential diagnoses of patients with neurological alterations. It is known that small-breed dogs are predisposed to these diseases. Laboratory tests and medical imaging are crucial for clinical guidance, helping to discard other neurological pathologies, especially those due to bacterial, fungal, and/or viral agents. However, definitive diagnosis of MUO can only be performed through necropsy and histopathological analysis. For the reported cases, CSF analysis, neurological PCR panel for detecting possible infectious agents, and bacterial culture were essential to rule out other possible causes of meningoencephalitis. Unfortunately, MUO includes progressive neurological disorders causing the patient's death.

Carbohydrate tolerance in Amazon tambaqui (Colossoma macropomum) revealed by NMR-metabolomics - Are glucose and fructose different sugars for fruit-eating fish?

In the present study, two approaches were followed to evaluate the metabolic responses of tambaqui (Colossoma macropomum), a frugivorous species, to intraperitoneal (IP) administration of glucose (GLU) and fructose (FRU) in fed (FED) and 10-day fasted (FAST) fish. Glucose and fructose tolerance tests were performed to assess the carbohydrate utilization and complementary NMR-metabolomics analyses were done to elucidate the impacts of sugar mobilization on the metabolic profile of plasma, liver and muscle. Blood was sampled from FED groups at 0, 3, 6 and 24 h; and at 0 and 24 h from FAST groups. Significant differences were observed in the hyperglycaemic peak between sugars at 3 h (GLU - 13.7 ± 2.0 mM vs. FRU - 8.7 ± 1.1 mM; saline 6.3 ± 0.6 mM) and on the return to normoglycaemia (GLU - 8.5 ± 2.2 mM vs. FRU - 5.2 ± 0.9 mM; saline 4.9 ± 0.6 mM) 6 h after IP on the FRU fish. The NMR-metabolomics approach allowed to conclude that tambaqui seems to be more responsive to the feeding regime (FED vs. FAST) than to the injected sugar (FRU vs. GLU). From the studied tissues, plasma showed no significant variations between feeding regimes at 24 h after IP, while muscle and liver revealed some variations on the final metabolome profile between FED and FAST groups. The metabolome variations between feeding regimes are indicative of changes on the amino acid utilization. Fish from FAST group seem to utilize amino acids as energy source rather than for protein synthesis and muscle growth. Variations on glucose concentration in muscle can also indicate different utilization of the sugars depending on the feeding regime.

A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1.

BACKGROUND: X-linked retinoschisis (XLRS) is a rare retinal dystrophy due to pathogenic variants in the RS1 gene. The hallmark of the disease is a foveal spoke-wheel appearance. The purpose of this report is to expand the phenotypic spectrum of XLRS reporting a patient with atypical phenotype of XLRS associated with Coats-like phenotype. MATERIALS AND METHODS: This is a case report of a patient diagnosed with XLRS who underwent ophthalmologic multimodal imaging and next-generation sequencing panel. RESULTS: The proband is a 14-year-old male patient who presented at Instituto Suel Abujamra with a history of Coats Disease in the right eye treated with retinal laser in both eyes two years ago. His best-corrected visual acuity was count finger at 1 foot in the right eye and 20/40 in the left eye. Fundus exam showed an extensive area of exudation and retinal detachment in the right eye and cystic change at the fovea in a spoke-wheel pattern in the left eye. The next-generation sequencing panel targeting inherited retinal diseases with 236 genes found a pathogenic hemizygous variant c.304C>T (p.Arg102Trp) in RS1 that has already been reported. CONCLUSIONS: The association of peripheral vascular incompetence and XLRS has already been described. Retinal exudation in the setting of XLRS is probably the result of vascular disruption and compromise. The loss of retinoschisin function that leads to foveal retinoschisis may also lead to vascular anomalies.

Association between cardiac autonomic modulation and sedentary behavior in breast cancer survivors: a 12-month cohort study.

PURPOSE: This study aimed to analyze the longitudinal influence of sitting time (ST) on cardiac autonomic modulation (CAM) and resting heart rate (RHR) in a 12-month cohort of 67 breast cancer survivors. METHODS: CAM was assessed by heart rate variability with heart monitor which also assessed RHR, and ST was self-reported. The relationship between the variables was analyzed by the Pearson correlation and its magnitude by linear regression. RESULTS: At baseline, no associations were found between ST and CAM or RHR. In the delta analyses, a decrease in RMSSD, SD1, and HF(ms2) was associated with sitting time. At 12-month follow-up, there was an increase in the ST and a decrease in RHR. ST was negatively related with CAM (RMSSD, PNN50, and SD1), but no association was observed between ST and RHR. CONCLUSION: The increase in ST was associated with worsening of CAM after 12-month follow-up. Promoting reduction in ST will be an important strategy against cardiovascular impairment in breast cancer survivors.

Physical activity domains are differently related with quality of life in breast cancer survivors: a cross-sectional study.

OBJECTIVES: Treatments for breast cancer (BC) can lead to physical and mental impairments which may affect quality of life (QoL). Physical activity (PA) is highly recommended for this population due to its protective effect against BC relapse and its ability to reduce the health impact of treatment. However, it is not clear whether the different domains of PA are associated with better QoL of BC survivors. The current study aimed to verify the relationship between different PA domains with QoL of BC survivors. METHODS: The sample consisted of 128 women BC survivors, with a mean age of 58.2 ±â€Š9.7 years. QoL was assessed using the Short-Form Health Survey questionnaire (SF-36) and PA was verified through the Baecke questionnaire, in domains of occupation, sports practice, and leisure time/commuting. The relationship between QoL and different PA domains was verified by linear regression, adjusted by age, marital status, and socioeconomic condition. RESULTS: Occupational PA was negatively related to physical limitations [ß= -15.36 (-29.04 to -1.68] and body pain [ß=-6.61 (-14.53 to 1.31) marginal association]. Sports practice was positively related to functional capacity [ß= 4.24 (0.60 to 7.88)]. Leisure time/commuting PA was positively related to functional capacity [ß = 7.17 (3.09 to 11.26)], vitality [ß = 4.30 (0.39 to 8.22)], social aspects [ß= 5.47 (0.80 to 10.15)], and mental health [ß = 4.08 (0.40 to 7.75)]. CONCLUSIONS: Sports practice and leisure time/commuting PA were positively related to QoL in BC survivors, while occupational PA was negatively related to QoL, independently of age, marital status, and socioeconomic condition.

Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy.

The rare form of retinal dystrophy, Bietti crystalline dystrophy, is associated with variations in CYP4V2, a member of the cytochrome P450 family. This study reports patients affected by typical and atypical Bietti crystalline dystrophy, expanding the spectrum of this disease. This is an observational case series of patients with a clinical and molecular diagnosis of Bietti crystalline dystrophy that underwent multimodal imaging. Four unrelated patients are described with two known variants, c.802-8_810del17insGC and c.518T > G (p.Leu173Trp), and one novel missense variant, c.1169G > T (p.Arg390Leu). The patient with the novel homozygous variant had the most severe phenotype resulting in macular hole formation and retinal detachment in both eyes. To the best of our knowledge, there is no association of these features with Bietti crystalline dystrophy. Patient 1 was the youngest patient and had the mildest phenotype with crystals in the retina without chorioretinal atrophy and visual complaints. Patients 2 and 3 presented with fewer crystals and chorioretinal atrophy. These three patients presented a classic phenotype. The fourth patient presented with an atypical and severe phenotype. This study reveals a new genotype and new phenotype associated with this disorder.

Relationship of anxiety and depression symptoms with the different domains of physical activity in breast cancer survivors.

Background Physical activity (PA) has shown benefits in the mental health of breast cancer (BC) survivors. However, it is unclear if different domains of PA are related to the emotional well-being of this population. The objective of this study was to verify the relationship between different domains of PA [occupational, exercise/sport participation and leisure time/commuting] with symptoms of anxiety and depression in BC survivors. Methods It is a cross-sectional study, composed of 128 women breast cancer survivor, in which the socioeconomic class was evaluated through the questionnaire of the Brazilian Association of Research Companies (ABEP), PA level was evaluated through the Baecke questionnaire, and, symptoms of anxiety and depression were evaluated through the Hospital Anxiety and Depression Scale (HADS). Results It was verified that occupational PA related to anxiety (B = 1.44 [95% CI: 0.11; 2.76]) and leisure time/commuting PA was negatively related to depression (B=-0.99 [95% CI: -1.64;-0.34]), even after adjustment of analysis by age, marital status, and socioeconomic status. There was no correlation between exercise/sport participation with scores of anxiety and depression in BC survivors. Physical activity at leisure time/commuting was negatively related with depression in BC survivors with mastectomy (B=-1.20 [95% CI:-1.92; -0.47). Limitations The difficulty of recruiting the studied population and the absence of subsidy for participation in the study are factors to be considerate. Conclusions Occupational PA may not to be indicated in the management of emotional disorders in BC survivors; however, leisure time/commuting may be recommended to contribute to the mental well-being of this population.

TUBGCP4 - associated microcephaly and chorioretinopathy.

Background Microcephaly and chorioretinopathy (MCCRP) is a rare neuro-ophthalmologic disorder that causes microcephaly and chorioretinopathy. In a recessive inheritance pattern, there are three types: MCCRP1; MCCRP2 and MCCRP3. MCCRP3 results from pathogenic variants in the tubulin-gamma complex-associated protein 4 (TUBGCP4) gene.Materials and Methods This is a case report of a patient with a molecular diagnosis defined by mutations in the TUBGCP4 gene. Segregation analyses were carried out.Results The molecular investigation found two heterozygous variants c.1380 G > A (p.Trp460*) a novel nonsense variant, and c.1746 G > T (p Leu582=) a synonymous variant in TUBGCP4. The clinical phenotype was characterized by microcephaly, microphthalmia, chorioretinopathy, a punched-out retinal appearance, dysmorphic facial features, decreased visual acuity, and learning difficulties. The clinical features were similar to those described previously in children with MCCRP3. The proband also had additional features including centripetal obesity, stretch marks, acanthosis nigricans, scoliosis, and hypercholesterolemia. These other features could be part of a ciliopathy syndrome.Conclusions MCCRP2 caused by pathogenic variants in PLK4 is well established as a ciliopathy disease. The role of TUBGCP4 is not well established in the cilium physiology. MCCRP3 may be part of the ciliopathy spectrum.

Retinal dystrophies and variants in PRPH2 / Distrofias retinianas e variantes em PRPH2

ABSTRACT - This report presents three patients diagnosed with macular dystrophies with variants in PRPH2. Peripherin-2, the protein of this gene, is important in the morphogenesis and stabilization of the photoreceptor outer segment. Peripherin-2 deficiencies cause cellular apoptosis. Moreover, pathogenic variants in PRPH2 are associated with various diseases, such as pattern, butterfly-shaped pattern, central areolar, adult-onset vitelliform macular, and cone-rod dystrophies as well as retinitis pigmentosa, retinitis punctata albescens, Leber congenital amaurosis, fundus flavimaculatus, and Stargardt disease.

RESUMO - Este relato apresenta três pacientes com diagnóstico de distrofias maculares com mutações no PRPH2. Periferina 2, a proteína deste gene, é importante na morfogênese e estabilização do segmento externo dos fotorreceptores. Deficiências de periferina 2 causam apoptose celular. Além disso, variantes patogênicas no PRPH2 estão relacionadas a diferentes doenças, como distrofia padrão, distrofia padrão em asa de borboleta, distrofia central areolar, distrofia viteliforme do adulto, retinose pigmentar, distrofia de cones e bastonetes, retinite punctata albscens, amaurose congênita de Leber, fundus flavimaculatus e doença de Stargardt.

Retinal dystrophies and variants in PRPH2.

This report presents three patients diagnosed with macular dystrophies with variants in PRPH2. Peripherin-2, the protein of this gene, is important in the morphogenesis and stabilization of the photoreceptor outer segment. Peripherin-2 deficiencies cause cellular apoptosis. Moreover, pathogenic variants in PRPH2 are associated with various diseases, such as pattern, butterfly-shaped pattern, central areolar, adult-onset vitelliform macular, and cone-rod dystrophies as well as retinitis pigmentosa, retinitis punctata albescens, Leber congenital amaurosis, fundus flavimaculatus, and Stargardt disease.

Association between hypertension in adolescents and the health risk factors of their parents: an epidemiological family study.

Hypertension in adolescence may be a predictor of cardiovascular problems in adulthood. Therefore, verification of the factors associated with this condition in adolescence is important. The aim of this study was to analyze the relationship between hypertension in adolescents with hypertension and the sociodemographic characteristics and lifestyle of their parents. This study was conducted on 1231 adolescents, 1202 mothers, and 871 fathers. The blood pressure of the adolescents was measured with an oscillometric device. Details of parental hypertension, sociodemographic characteristics, and lifestyle were obtained by self-report. The prevalence of hypertension was higher among adolescents with older fathers and older mothers, with both parents reporting hypertension and with mothers who were overweight. In multivariable analysis, adolescents with older mothers (OR = 2.36; 95% confidence interval [CI] = 1.12-4.98), hypertensive mothers (OR = 2.22 [95% CI = 1.26-3.89]), and hypertensive fathers (OR = 1.70 [95% CI = 1.03-2.81]) were more likely to have hypertension. In the analysis that considered clusters of health risk factors, higher risks of hypertension were observed in adolescents whose mothers had four or more aggregated risk factors (OR = 2.53 [95% CI = 1.11-5.74]). In conclusion, there was a relationship between hypertension in adolescents and hypertension in their parents. However, an association between hypertension in adolescents and parental age and clusters of health risk factors was only observed for their mothers.

Agreement analysis of oscillometric devices in the measure of resting heart rate in breast cancer survivors.

OBJECTIVE: The aim of this study was to verify the reproducibility of an oscillometric device in the measurement of resting heart rate (RHR) in breast cancer survivors. METHODS: This study included 85 breast cancer survivors with a mean age of 58.87±10.03 years. For the RHR evaluation, the equipment used was the Omron HEM 742, electronic and digital arm device, for measurement of blood pressure and heart rate (HR), with automatic cuff inflation and deflation. At the same time as the oscillometric measurement, HR was measured by the HR monitor Polar RS800 CX, which has been validated previously for HR uptake. The HR value obtained by the cardiofrequency meter was registered at the same time that the Omron device measured blood pressure and HR values. RESULTS: It was observed that the RHR values were very close in both devices and that the correlation values and intraclass correlation coefficient were high. These results were replicated when the female breast cancer survivors were stratified by age group. The agreement values presented by the Bland-Altman analysis showed good values; both for the entire sample and stratified by age, few cases were outside beyond 95% confidence interval range. CONCLUSION: The present study showed that the oscillometric device used presented good values of reproducibility in the detection of RHR values in breast cancer survivors compared with a cardiac monitor.

Relationship between amputation and risk factors in individuals with diabetes mellitus: A study with Brazilian patients.

Individuals with diabetes develop lower extremity amputation for several reasons. Investigations into pathways to the development of complications are important both for treatment and prevention. AIM: To evaluate the relationship between amputation and risk factors in people with diabetes mellitus. MATERIALS AND METHOD: All participants included in this study (n=165) were recruited from the Diabetic Foot Program, developed in a Brazilian University, over seven years (2007-2014) and all information for this study was extracted from their clinical records. RESULTS: The prevalence of amputation in patients with diabetes with four risk factors was up to 20% higher when compared to those with only one risk factor. The main predictive risk factors for amputation in this population were the presence of an ulcer and smoking. CONCLUSION: The risk factors for amputation can be predicted for people with diabetes mellitus and, in the present study, the main factors were the presence of an ulcer and the smoking habit.

Vasculopathy associated with peripheral neuropathy in gait parameters of diabetic people

Abstract Diabetic peripheral neuropathy (DPN) is a common complication of diabetes mellitus when glycemic levels are poorly controlled. Sometimes DPN is accompanied by vasculopathy (DPV), which can worsen the clinical prognosis. The aim of this study was to analyze the gait parameters of nondiabetic individuals and diabetic individuals with DPN with or without DPV. METHOD The study included 68 individuals (50 to 65 years old) divided into three groups: people without diabetes mellitus (n = 33), diabetic patients with DPN (n = 18), and diabetic patients with both DPN and DVP (n = 17). The participants underwent a gait evaluation using electronic baropodometry to obtain the single and double support, velocity, and pressure-time integral. RESULTS The pressure-time integral, velocity, and single support variables were lower, and the double support and double support/single support ratio were higher in the diabetic neuropathy and vasculopathy group. The velocity was lower the greater the degree of impairment of the diabetic foot. Some correlations were identified with velocity. CONCLUSION In diabetic individuals, there was a significant worsening of the gait parameters analyzed according to increasing degree of clinical impairment.