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This study evaluated the effects of hanging the carcass by the Achilles tendon (AS) versus pelvic suspension (PS) on meat quality traits. Bos indicus carcasses of two distinct biological types/sex categories comprised 10 young Brangus heifers and 10 Nellore bulls which were finished in a feedlot. Half-carcasses of each biological type/sex category were randomly hung using Achilles suspension (n = 20, AS) or pelvic suspension (n = 20, PS) for 48 h. At boning, longissimus samples were collected for evaluation by untrained consumers for tenderness, liking of flavor, juiciness and overall acceptability, after aging for 5 or 15 days. Objective samples were also tested for shear force (SF), Minolta meat colour, ultimate pH, cooking loss (CL) and purge loss (PL). There was a positive effect (p < 0.01) of PS on the sensory tenderness of Nellore bulls and Brangus heifers aged for 5 days compared to the AS method. At 15 days of aging, difference in sensory tenderness was observed (p < 0.05) in either group. Additionally, an interaction occurred between the suspension method and the aging of Nellore beef (p < 0.05) on liking of flavor, juiciness and overall acceptance, while the same effects were not observed for Brangus beef (p > 0.05). Nellore carcasses submitted to PS tended (p = 0.06) to produce more tender meat than those submitted to AS (SF = 44.62 ± 6.96 vs. 50.41 ± 8.04 N), and lower CL (p < 0.05) were found (27.7 vs. 30.9%). Carcass-suspension methods did not influence meat color, pH or PL in either group (p > 0.05). The PS contributes to improve the quality of Bos indicus bulls loins; in addition, this method allows a reduction in the aging time from 15 to 5 days, and it can be used to supply meat consumer markets which accept a certain level of eating quality.

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Although vitamin D deficiency resulting from insufficient sunlight exposure or inadequate dietary vitamin D intake is the most common cause of rickets, mutations in genes involved in vitamin D metabolism can cause genetic forms of rickets termed Vitamin D-Dependent Rickets (VDDR). In 2018, Roizen et al. described a new type of VDDR, named VDDR3, caused by a recurrent missense mutation in the CYP3A4 gene that leads to accelerated inactivation of vitamin D metabolites. Here, we describe the third case of VDDR3 due to the same CYP3A4 mutation in a 2-year-old boy with bone deformities associated with poor growth. As in the previously reported cases, this patient had no family history of rickets. Serial measurements of vitamin D metabolites after a single 150,000 IU dose of cholecalciferol demonstrated an accelerated inactivation of 25(OH)D and 1,25(OH)2D. Significant improvement in growth velocity and healing of bone deformities were achieved after a short period of treatment with 10.000 IU of cholecalciferol daily, showing the importance of early recognition and prompt precision therapy of this condition.

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BACKGROUND: Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyelin (LysoSM) is the de-acetylated form of SM and it has been shown as a biomarker for ASMD in tissues, plasma, and dried blood spots (DBS) and lysosphingomyelin-509 (LysoSM509) is the carboxylated analogue of LysoSM. High levels of Lysosphingomyelin 509 (LysoSM509) have also been shown in ASMD patients. In this study, we report the utility of the quantification of LysoSM and LysoSM509 in DBS of patients from Latin America with ASMD by ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS). RESULTS: DBS samples from 14 ASMD patients were compared with 15 controls, and 44 general newborns. All patients had their diagnosis confirmed by the quantification of ASM and the measurement of the activity of chitotriosidase. All patients had significantly higher levels of lysoSM and lysoSM509 compared to controls and general newborns. CONCLUSIONS: The quantification of lysosphingolipids in DBS is a valuable tool for the diagnosis of ASMD patients and lysoSM can be useful in the differential diagnosis with NPC. This method is also valuable in the ASMD newborn screening process.

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Radiation-induced head and neck sarcoma (RIHNS) is a rare and serious long-term complication of radiotherapy (RT), with poor prognosis and high morbidity and mortality. Diagnosis is based on immunohistochemistry and molecular biomarker analysis, and therapy is usually surgical. Other adjuvant therapies might be considered. This case report aimed to describe the clinical, imaging, histopathological, and therapeutic characteristics of a rare case of RIHNS in the mandible after 21 years of RT. A 68-year-old male patient underwent a partial left parotidectomy in 1995, was diagnosed with pleomorphic adenoma, and after recurrence of the lesion in 2000, underwent an ipsilateral total parotidectomy with adjuvant RT. In May 2021, he complained of an ulcerated nodular lesion on the tongue that extended toward the lower gingiva, associated with oral bleeding and difficulties with swallowing. After biopsy in the gingival margin and histopathological analysis, the diagnosis of high-grade spindle-cell sarcoma was established. Complete surgical resection with microsurgical reconstruction using a fibular osteomusculocutaneous free flap was performed. RIHNS could appear after a period of almost 20 years after RT. Surgical resection with reconstructive surgery was a reliable and feasible therapeutic option that showed favorable clinical results after an appropriate follow-up.

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ABSTRACT Introduction: Fabry disease is a chronic, progressive, and multi-system hereditary condition, related to an Xq22 mutation in X chromosome, which results in deficiency of alpha-galactosidase enzyme, hence reduced capacity of globotriaosylceramide degradation. Objectives: to evaluate the prevalence of Fabry disease (FD) mutations, as well as its signs and symptoms, among relatives of chronic kidney disease (CKD) patients diagnosed with FD during a previously conducted study, named "Clinical and epidemiological analysis of Fabry disease in dialysis centers in Brazil". Methods: a cross-sectional study was carried out, and data was collected by interviewing the relatives of patients enrolled in the Brazil Fabry Kidney Project and blood tests for both Gb3 dosage and genetic testing. Results: Among 1214 interviewed relatives, 115 (9.47%) were diagnosed with FD, with a predominance of women (66.10%). The most prevalent comorbidities were rheumatologic conditions and systemic hypertension (1.7% each), followed by heart, neurological, cerebrovascular diseases, and depression in 0.9% of individuals. Intolerance to physical exercise and tiredness were the most observed symptoms (1.7%), followed by periodic fever, intolerance to heat or cold, diffuse pain, burn sensation or numbness in hands and feet, reduced or absent sweating, as well as abdominal pain after meals in 0.9%. Conclusion: We found a prevalence of Fabry disease in 9.47% of relatives of CKD patients with this condition, remarkably with a 66.1% predominance of women, which contrasts with previous reports. The screening of family members of FD patients is important, since it can lead to early diagnosis and treatment, thus allowing better quality of life and improved clinical outcomes for these individuals.

RESUMO Introdução: A doença de Fabry é uma condição hereditária crônica, progressiva e multissistêmica, relacionada a uma mutação Xq22 no cromossomo X, que resulta em deficiência da enzima alfa-galactosidase, diminuindo a capacidade de degradação da globotriaosilceramida. Objetivos: avaliar a prevalência de mutações na doença de Fabry, bem como seus sinais e sintomas, em familiares de pacientes com doença renal crônica (DRC) diagnosticados com DF durante um estudo realizado anteriormente, denominado "Análise clínica e epidemiológica da doença de Fabry em centros de diálise no Brasil". Métodos: foi realizado um estudo transversal e os dados foram coletados através da entrevista com familiares de pacientes inscritos no Projeto Rim Fabry Brasil e exames de sangue para dosagem de Gb3 e testes genéticos. Resultados: Dos 1,214 familiares entrevistados, 115 (9,47%) foram diagnosticados com DF, com predomínio de mulheres (66,10%). As comorbidades mais prevalentes foram condições reumatológicas e hipertensão arterial sistêmica (1,7% cada), seguidas por doenças cardíacas, neurológicas, cerebrovasculares e depressão em 0,9% dos indivíduos. Intolerância ao exercício físico e cansaço foram os sintomas mais observados (1,7%), seguidos de febre periódica, intolerância ao calor ou ao frio, dor difusa, sensação de queimação ou dormência nas mãos e nos pés, sudorese reduzida ou ausente, além de dor abdominal após refeições em 0,9%. Conclusão: Encontramos uma prevalência da doença de Fabry em 9,47% dos familiares de pacientes com DRC com essa condição, notadamente com uma predominância de 66,1% de mulheres, o que contrasta com relatos anteriores. A triagem de familiares de pacientes com DF é importante, pois pode levar ao diagnóstico e tratamento precoces, permitindo melhor qualidade de vida e melhores resultados clínicos para esses indivíduos.

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INTRODUCTION: Fabry disease is a chronic, progressive, and multi-system hereditary condition, related to an Xq22 mutation in X chromosome, which results in deficiency of alpha-galactosidase enzyme, hence reduced capacity of globotriaosylceramide degradation. OBJECTIVES: to evaluate the prevalence of Fabry disease (FD) mutations, as well as its signs and symptoms, among relatives of chronic kidney disease (CKD) patients diagnosed with FD during a previously conducted study, named "Clinical and epidemiological analysis of Fabry disease in dialysis centers in Brazil". METHODS: a cross-sectional study was carried out, and data was collected by interviewing the relatives of patients enrolled in the Brazil Fabry Kidney Project and blood tests for both Gb3 dosage and genetic testing. RESULTS: Among 1214 interviewed relatives, 115 (9.47%) were diagnosed with FD, with a predominance of women (66.10%). The most prevalent comorbidities were rheumatologic conditions and systemic hypertension (1.7% each), followed by heart, neurological, cerebrovascular diseases, and depression in 0.9% of individuals. Intolerance to physical exercise and tiredness were the most observed symptoms (1.7%), followed by periodic fever, intolerance to heat or cold, diffuse pain, burn sensation or numbness in hands and feet, reduced or absent sweating, as well as abdominal pain after meals in 0.9%. CONCLUSION: We found a prevalence of Fabry disease in 9.47% of relatives of CKD patients with this condition, remarkably with a 66.1% predominance of women, which contrasts with previous reports. The screening of family members of FD patients is important, since it can lead to early diagnosis and treatment, thus allowing better quality of life and improved clinical outcomes for these individuals.

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Eighteen Nellore steers were classified as either excitable (high index) or calm (low index) temperament, and high or low WB Shear Force (SF) in Longissimus lumborum at 16 days postmortem, with a subset assigned to four groups: HTHS-high temperament and SF (n = 5); HTLS-high temperament and low SF (n = 4); LTHS-low temperament and high SF (n = 4); LTLS-low temperament and SF (n = 5). Only the second calpastatin peak was detected at 48 h in the all samples, and the calpastatin activity only differed (P < .05) between shear force groups. High WBSF groups had greater expression of CAST gene (P < .05) in the high and low temperament. Western blots showed a calpastatin fragmentation pattern very particular to each group with high molecular weight bands present in the HTHS. Temperament was not a determinant factor in postmortem proteolysis variation. However, greater WBSF aged meat from high temperament animals had greater calpastatin activity and less calpastatin fragments formed during the postmortem period analyzed.

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BACKGROUND/AIMS: Evaluate the prevalence of Fabry disease in men and women with kidney disease; and observe the presence and importance of the main signs and symptoms in patients with kidney disease. METHODS: A cross-sectional analysis of secondary data from a multicenter project of Clinical and Epidemiological Analysis of Fabry Disease in 854 Dialysis Centers. A total of 36,442 patients underwent the questionnaire and algorithm; of them, 28,284 were discarded for not presenting signs and symptoms of Fabry disease, while the other 8,087 submitted to blood collection and analysis. All participants signed a Free and Informed Consent Form and a questionnaire was applied. The questionnaire data were analyzed using a computerized algorithm. This program/algorithm analyzes and separates patients into: discarded, patients unlikely to have Fabry disease; suspect, patients who submitted to blood collection. The blood of suspect patients was collected on filter paper for enzyme measurement and genetic testing. A descriptive data analysis was performed and the likelihood ratio was determined. RESULTS: The general prevalence was 0.19% and after use of algorithm was 0.87%. Although more men were screened (59.3%), the prevalence was higher in women (65.1%). The most prevalent signs and symptoms were: heart disease (60.6%), decreased or lack of sweating (42.3%), heat and cold intolerance (28.2%), and pain crises spreading throughout the body (26.8%). CONCLUSION: The prevalence was higher in women, and the most prevalent symptom was heart diseases.

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Ninety-six feedlot-finished Nellore steers were used to verify the relationship between temperament indicators and meat tenderization. Temperament index (TI), chute score (CS), and average of exit velocity (EV) with CS (AT) presented low positive correlations (P≤0.05) with shear force, either at 2 or 16days postmortem (WBSF-16). The rectal temperature was consistently correlated with temperament indicators (TI, CS, and AT) and WBSF-16. Two groups (n=12) representing the most tender (39.2±4.9N) and most tough meat (94.1±11.8N), based on WBSF-16, were compared for temperament, and calpastatin activity (CASTa) was determined 48h postmortem. The tender group presented lower EV, TI, and AT (P≤0.05). The tender group exhibited lower (P≤0.05) CASTa in the triceps brachii muscle, but there was no difference in CASTa in the longissimus lumborum muscle between WBSF groups. Meat tenderness and inhibitory activity of calpastatin may be associated with divergent temperament indices in zebu cattle.

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Food additives were used to improve meat characteristics of Brangus heifers supplemented on pasture daily (0.32% LW). The treatments were: supplement (with no additives); calcareous seaweed flour (Lithothamnium calcareum) added to the supplement; vitamin E and organic selenium added to the supplement; protected fat added to the supplement; a subcutaneous application of vitamin D seven days before slaughter + supplement; and the association of vitamin E, organic selenium and protected fat added to the supplement + one subcutaneous dose of vitamin D seven days before slaughter. The animals were supplemented by 109.80±11,71 days and were slaughtered when they reached approximately 337.95±20,56kg of LW. The experimental design was completely randomized with six treatments and 25 repetitions. TheLongissimus dorsi muscle’s chemical composition did not differ between treatments (P>0.05). The use of seaweed flour, vitamin D, protected fat and the association of additives has the potential to improve the concentration of some unsaturated fatty acids in the Brangus heifers’ meat (P˂0.05), but without improving the level of unsaturated fatty acids class. We conclude that the use of additives in heifers finished in the pasture/supplement system has no effect on the meat quality, but only, isolated outcomes, on the content of some fatty acids.

Os aditivos alimentares foram utilizados com o intuito de melhorar as características da carne de novilhas Brangus suplementadas a pasto (0,32% PV). Os tratamentos foram: suplemento base (sem aditivos); farinha de algas calcárias (Lithothamnium calcareum) adicionada ao suplemento base; vitamina E e selênio orgânico adicionados ao suplemento base; gordura protegida adicionada ao suplemento base; uma aplicação por via subcutânea de vitamina D sete dias antes do abate + suplemento base; e uma associação de vitamina E, selênio orgânico e gordura protegida adicionados ao suplemento base + uma aplicação por via subcutânea de vitamina D sete dias antes do abate. Os animais foram suplementados por 109,80±11,71 dias, quando foram abatidos ao alcançarem aproximadamente 337,95±20,56kg de PV. O delineamento experimental foi inteiramente casualizado, com seis tratamentos e 25 repetições. A composição centesimal do músculo Longissimus dorsi não diferiu entre os tratamentos (P>0,05). A utilização de farinha de algas calcárias, vitamina D, gordura protegida e aditivos associados tem potencial de aumentar a concentração de alguns ácidos graxos insaturados da carne de novilhas Brangus (P˂0,05), sem, no entanto, melhorar o teor total da classe de insaturados. Conclui-se que a utilização de aditivos alimentares em novilhas terminadas em sistema de suplementação a pasto não tem efeitos sobre a qualidade da carne, exceto, de maneira isolada, sobre o teor de alguns ácidos graxos avaliados.

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