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Background Exercise-induced pulmonary haemorrhage (EIPH) in athletic horses is characterized by the presence of blood from the lungs in the tracheobronchial tree after intense exercise. Despite the high prevalence of EIPH in horses, the primary aetiology remains unknown. Variants in the genes encoding CD39 and CD39L1 ( ENTPD1 and ENTPD2 , respectively) were previously reported as potential genetic causes involved in EIPH pathogenesis. However, the role of these variants in haemostatic functions is unknown. Results To investigate the association between EIPH and missense variants in the ENTPD1 (rs1152296272, rs68621348, and rs68621347) and ENTPD2 genes (rs782872967), 76 Thoroughbred horses diagnosed with EIPH and 56 without clinical signs of EIPH (control group) by trachea-bronchial endoscopy were genotyped. The rs1152296272 and rs68621347 variants were linked, which explained why the same results were found in all horses. Approximately 96% and 95% of the EIPH and control horses, respectively, carried at least one nonreference allele for these variants. In contrast, 100% of the control horses and 96% of the EIPH horses were homozygous for the reference allele for the rs68621348 variant. In the EIPH group, 1.5% of the horses were homozygotes and 24% were heterozygous for the nonreference allele of the rs782872967 variant. In the control group, the nonreference allele of this variant was observed only in heterozygotes (16%). There were no significant differences between groups for any of the variants. Conclusions The variants previously described in the genes encoding the CD39 and CD39L1 enzymes were highly present in the studied population. However, no association was found between the occurrence of EIPH and the presence of these variants in Thoroughbred horses in this study.

Tumors affecting Bartholin’s gland are considered rare in human medicine; there are few reports in the veterinary literature, with descriptions occurring only in cows. This article described the clinical and pathological findings associated with Bartholin’s gland adenoma in a goat. Clinically, a 7-year-old pregnant Saanen goat presented bilateral enlargement of the vulva that did not regress spontaneously after parturition. Grossly, these vulvar masses were multilobulated, contained cystic areas from which oozed a whitish fluid. Histopathology revealed an adenoma characterized by the proliferation of irregularly shaped neoplastic epithelial cells that formed tubular to glandular-like structures. These neoplastic cells demonstrated moderate anisokaryosis and evident nucleoli. The intratumoral proliferation index (PI) was estimated by immunoreactivity with the protein ki-67. Further, the glandular-like structures produced a Periodic Acid-Schiff positive secretion. A diagnosis of Bartholin’s gland adenoma was established due to the anatomic location of the neoplastic growths, the histopathological features, and the PI of the tumor. RESUMO: Tumores que afetam a glândula de Bartholin são considerados raros em humanos e há poucos relatos na medicina veterinária, sendo descrito somente em vacas. Este artigo descreve os achados clínicos e patológicos associados ao adenoma na glândula de Bartholin em uma cabra. O animal da raça Saanen, com sete anos de idade e gestante apresentava aumento de volume bilateral na região da vulva, que não regrediu após o parto. Macroscopicamente, a massa era multilobulada, com presença de vários cistos preenchidos por uma secreção esbranquiçada. A histopatologia revelou um adenoma, caracterizado por proliferação de células epiteliais de formato irregular que formavam estruturas tubulares semelhantes à glândulas. Estas células neoplásicas apresentavam anisocariose moderada e nucléolos evidentes. O índice de proliferação celular intratumoral (PI) foi estimado por imunorreatividade à proteína ki-67. Além disso, a secreção produzida por essas estruturas do tipo glandular, foi positiva na coloração do Ácido Periódico-Schiff. O diagnóstico de adenoma da glândula de Bartholin foi estabelecido pela localização anatômica dos tumores neoplásicos, características histopatológicas e à PI do tumor.

Tumors affecting Bartholin's gland are considered rare in human medicine; there are few reports in the veterinary literature, with descriptions occurring only in cows. This article described the clinical and pathological findings associated with Bartholin's gland adenoma in a goat. Clinically, a 7-year-old pregnant Saanen goat presented bilateral enlargement of the vulva that did not regress spontaneously after parturition. Grossly, these vulvar masses were multilobulated, contained cystic areas from which oozed a whitish fluid. Histopathology revealed an adenoma characterized by the proliferation of irregularly shaped neoplastic epithelial cells that formed tubular to glandular-like structures. These neoplastic cells demonstrated moderate anisokaryosis and evident nucleoli. The intratumoral proliferation index (PI) was estimated by immunoreactivity with the protein ki-67. Further, the glandular-like structures produced a Periodic Acid- Schiff positive secretion. A diagnosis of Bartholin's gland adenoma was established due to the anatomic location of the neoplastic growths, the histopathological features, and the PI of the tumor. Key words: Histopathology, ki-67 protein, adenoma, major vestibular glands. Tumores que afetam a glandula de Bartholin sao considerados raros em humanos e ha poucos relatos na medicina veterinaria, sendo descrito somente em vacas. Este artigo descreve os achados clinicos e patologicos associados ao adenoma na glandula de Bartholin em uma cabra. O animal da raca Saanen, com sete anos de idade e gestante apresentava aumento de volume bilateral na regiao da vulva, que nao regrediu apos o parto. Macroscopicamente, a massa era multilobulada, com presenca de varios cistos preenchidos por uma secrecao esbranquicada. A histopatologia revelou um adenoma, caracterizado por proliferacao de celulas epiteliais de formato irregular que formavam estruturas tubulares semelhantes a glandulas. Estas celulas neoplasicas apresentavam anisocariose moderada e nucleolos evidentes. O indice de proliferacao celular intratumoral (PI) foi estimado por imunorreatividade a proteina ki-67. Alem disso, a secrecao produzida por essas estruturas do tipo glandular, foi positiva na coloracao do Acido Periodico-Schiff. O diagnostico de adenoma da glandula de Bartholin foi estabelecido pela localizacao anatomica dos tumores neoplasicos, caracteristicas histopatologicas e a PI do tumor. Palavras-chave: histopatologia, ki-67, adenoma, glandulas vestibulares maiores.

Molecular biomarkers are promising tools to be routinely used in clinical psychiatry. Among psychiatric diseases, major depression disorder (MDD) has gotten attention due to its growing prevalence and morbidity. We tested some peripheral molecular parameters such as serum mature Brain-Derived Neurotrophic Factor (mBDNF), plasma C-Reactive Protein (CRP), serum cortisol (SC), and the salivary Cortisol Awakening Response (CAR), as well as the Pittsburgh sleep quality inventory (PSQI), as part of a multibiomarker panel for potential use in MDD diagnosis and evaluation of disease's chronicity using regression models, and ROC curve. For diagnosis model, two groups were analyzed: patients in the first episode of major depression (MD: n = 30) and a healthy control (CG: n = 32). None of those diagnosis models tested had greater power than Hamilton Depression Rating Scale-6. For MDD chronicity, a group of patients with treatment-resistant major depression (TRD: n = 28) was tested across the MD group. The best chronicity model (p < 0.05) that discriminated between MD and TRD included four parameters, namely PSQI, CAR, SC, and mBDNF (AUC ROC = 0.99), with 96% of sensitivity and 93% of specificity. These results indicate that changes in specific biomarkers (CAR, SC, mBDNF and PSQI) have potential on the evaluation of MDD chronicity, but not for its diagnosis. Therefore, these findings can contribute for further studies aiming the development of a stronger model to be commercially available and used in psychiatry clinical practice.

Background The Brazilian Policy for Comprehensive Care for People with Rare Diseases was implemented in 2014; however, national epidemiological data on rare diseases (RDs) are scarce and mainly focused on specific disorders. To address this gap, University Hospitals, Reference Services for Neonatal Screening, and Reference Services for Rare Diseases, all of which are public health institutions, established the Brazilian Rare Diseases Network (RARAS) in 2020. The objective of this study was to perform a comprehensive nationwide epidemiological investigation of individuals with RDs in Brazil. This retrospective survey collected data from patients receiving care in 34 healthcare facilities affiliated with RARAS in 2018 and 2019. Results The survey included 12,530 participants with a median age of 15.0 years, with women representing 50.5% of the cohort. Classification according to skin color demonstrated that 5044 (47.4%) participants were admixed. Most had a confirmed diagnosis (63.2%), with a predominance of phenylketonuria (PKU), cystic fibrosis (CF), and acromegaly. Common clinical manifestations included global developmental delay and seizures. The average duration of the diagnostic odyssey was 5.4 years (± 7.9 years). Among the confirmed diagnoses, 52.2% were etiological (biochemical: 42.5%; molecular: 30.9%), while 47.8% were clinical. Prenatal diagnoses accounted for 1.2%. Familial recurrence and consanguinity rates were 21.6% and 6.4%, respectively. Mainstay treatments included drug therapy (55.0%) and rehabilitation (15.6%). The Public Health System funded most diagnoses (84.2%) and treatments (86.7%). Hospitalizations were reported in 44.5% of cases, and the mortality rate was 1.5%, primarily due to motor neuron disease and CF. Conclusion This study marks a pioneering national-level data collection effort for rare diseases in Brazil, offering novel insights to advance the understanding, management, and resource allocation for RDs. It unveils an average diagnostic odyssey of 5.4 years and a higher prevalence of PKU and CF, possibly associated with the specialized services network, which included newborn screening services.

Negative symptoms are a core feature of schizophrenia. The Brief Negative Symptom Scale (BNSS) is a scale developed to measure negative symptoms in schizophrenia. The present study aimed to examine the construct validity of BNSS, by using convergent and divergent validities as well as factor analysis, in a Brazilian sample of 111 outpatients diagnosed with schizophrenia by DSM-5. Patients were evaluated by the Brazilian version of the BNSS and positive and negative subscales of the Positive and Negative Syndrome Scale (PANSS). Assessment of patients by both instruments revealed an excellent internal consistency (Cronbach's alpha = 0.938) or inter-rater reliability (ICC = 0.92), as well as a strong correlation between BNSS and Marder negative PANSS (r = 0.866) and a weak correlation of the instrument with the positive PANSS (r = 0.292), thus characterizing convergent and discriminant validities, respectively. The exploratory factor analysis identified two distinct factors, namely, motivation/pleasure and emotional expressivity, accounting for 68.63% of the total variance. The study shows that the Brazilian version of the BNSS has adequate psychometric properties and is a reliable instrument for the assessment of negative symptoms in schizophrenia, either for clinical practice or research. •Brazilian Validation of Brief Negative Symptom Scale (BNSS)•The BNSS showed excellent internal consistency and good inter-rater reliability.•The BNSS showed good convergent and discriminant validities.•The factor analysis evidenced two distinct factors: motivation/pleasure and emotional expressivity.

The potential of plant lectins (carbohydrate-binding proteins) for the treatment of neurological disorders such as anxiety and depression has started to be reported in the last few years. Schinus terebinthifolia leaves contain a lectin called SteLL, which has displayed antimicrobial, immunomodulatory, antitumor, and analgesic activities. However, the effects of SteLL on the Central Nervous System (CNS) have not yet been determined. In this study, we investigated the in vivo anxiolytic effect of SteLL in mice using the open field (OF) and elevated plus maze (EPM) tests. In the OF, SteLL (1, 2, and 4 mg/kg, i.p.) did not interfere with the number of crossings but significantly reduced the number of rearings. In the EPM, SteLL 4 mg/kg and the combination SteLL (1 mg/kg) plus diazepam (1 mg/kg) significantly increased the time spent in the open arms while reducing the time spent in the closed arms. The anxiolytic effect of SteLL did not seem to be dependent on the carbohydrate-binding domain of the lectin. Nevertheless, the SteLL effect in the EPM was reversed by the pretreatment with the pharmacological antagonists of the α2-adrenoceptor, 5-HT2A/2C serotonin receptor, and the D1 dopamine receptor. Overall, our results suggest that the anxiolytic effect of SteLL is dependent on the monoaminergic signaling cascade.

In Brazil, the production of mules with a comfortable gait primarily involves the breeding of marching saddle mules. This is achieved by crossing gaited Pêga donkeys with horses from the Mangalarga Marchador and Campolina breeds. The DMRT3:g.22999655C>A SNP is implicated in regulating gait phenotypes observed in various horse breeds, including the batida (CC) and picada (CA) gaits found in these horse breeds. We aimed to determine if genotypes influenced gait type in 159 mules and 203 donkeys genotyped for the DMRT3 SNP by PCR-RFLP analysis. About 47% of mules had the CC-genotype, while 53% had the CA-genotype. Donkeys predominantly had the CC-genotype (97%), and none had AA. Both CC- and CA-genotypes were evenly distributed among mules with the batida or picada gaits. In donkeys, the CC-genotype frequencies were consistent regardless of gait type. However, the CA-genotype was more common in picada-gaited donkeys than in batida-gaited donkeys. The prevalence of CA mules and the rare presence of the non-reference allele in donkeys align with previous findings in Mangalarga Marchador and Campolina horses. This suggests that the non-reference allele likely originated from the mares involved in donkey crosses. Our results also imply that factors beyond this variant, such as other genes and polymorphisms, influence gait traits in equids.

This study presents the first characterization of the globulin fraction from a newly registered chickpea cultivar, which represents the first desi-type cultivar (GB Cappuccino) released in Brazil. Although desi chickpeas are widely consumed in other countries, they have not been part of the Brazilian dietary pattern, and this introduction may represent an opportunity for changing this scenario. Characterizing its proteins is essential, given that legumes are recognized as important protein sources. In this study, globulins were confirmed as the predominant protein fraction, with the legumin-like fraction accounting for more than 80% of the total globulins. Its electrophoretic and amino acid profiles were highly distinctive and strongly influenced by this major fraction. In addition to the expected solubilization in saline solution, under in vitro pepsin–pancreatin digestion conditions designed to assess maximum hydrolysis potential, the globulin fraction was partially hydrolyzed, indicating a degree of protein digestibility while simultaneously releasing peptides that exhibited antioxidant activity and angiotensin-converting enzyme (ACE) inhibitory potential. Overall, these results highlight the nutritional relevance of this new cultivar and, based on the preliminary bioactivity screening performed, suggest that its globulin-rich protein composition may represent a promising source of bioactive peptides.

Sleep disturbance is a symptom consistently found in major depression and is associated with a longer course of illness, reduced response to treatment, increased risk of relapse and recurrence. Chronic insomnia has been associated with changes in cortisol and serum brain-derived neurotrophic factor (BDNF) levels, which in turn are also changed in major depression. Here, we evaluated the relationship between sleep quality, salivary cortisol awakening response (CAR), and serum BDNF levels in patients with sleep disturbance and treatment-resistant major depression ( = 18), and in a control group of healthy subjects with good ( = 21) and poor ( = 18) sleep quality. We observed that the patients had the lowest CAR and sleep duration of all three groups and a higher latency to sleep than the healthy volunteers with a good sleep profile. Besides, low CAR was correlated with more severe depressive symptoms and worse sleep quality. There was no difference in serum BDNF levels between groups with distinct sleep quality. Taken together, our results showed a relationship between changes in CAR and in sleep quality in patients with treatment-resistant depression, which were correlated with the severity of disease, suggesting that cortisol could be a physiological link between sleep disturbance and major depression.