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1.
Foods ; 9(2)2020 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-32098074

RESUMO

Oilseeds from five native plant species with edible potential from the Brazilian Caatinga semi-arid region (Diplopterys pubipetala, Barnebya harleyi, Croton adamantinus, Hippocratea volubilis, and Couroupita guianensis) were investigated regarding their mineral contents. The minerals, Na, K, Ca, Mg, Fe, Cu, Cr, Al, were analyzed by high-resolution continuum source atomic absorption spectrometry (HR-CS AAS) and P by the vanadomolybdophosphoric acid colorimetric method. K, Mg, and P were the main elements found (1.62-3.7 mg/g, 362-586 µg/g, and 224-499 µg/g dry weight (dw), respectively). B. harley seeds contained the highest amounts of K and P, while C. guianensis seeds were the richest in Mg. Fe was the most abundant oligoelement (2.3-25.6 µg/g dw). Cr contents were below the limit of quantification for all samples and Al amounts were low: 0.04-1.80 µg/g dw. A linear discriminant analysis clearly differentiated B. harleyi and C. guianensis samples from the remaining ones. In sum, these oilseeds from the Brazilian Caatinga semi-arid region seem to have the potential to be used as natural sources of minerals, mainly K.

2.
Arq. bras. med. vet. zootec. (Online) ; 71(2): 489-499, mar.-abr. 2019. tab
Artigo em Inglês | VETINDEX, LILACS | ID: biblio-1011262

RESUMO

A study was conducted to evaluate the effect of chlorogenic acid (ChA) added pre-cooling and its combination with caffeine added during warming on cooled-stored boar semen parameters. Ten ejaculates were diluted in commercial extender with or without 4.5mg/ml ChA and stored at 15°C. After 0, 24 and 72 hours of storage, aliquots of these doses were taken and incubated at 37°C in the presence or absence of 8.0mM caffeine. Semen quality was evaluated after 10 and 120 minutes of incubation. The ChA increased (P <0.01) the sperm motility, viability, acrosomal integrity and the percentage of spermatozoa with high mitochondrial activity (PMHA), however, decreased (P <0.01) the malondialdehyde (MDA) concentration. Caffeine increased (P<0.05) the sperm motility, viability, PMHA and the MDA concentration and reduced (P <0.05) the acrosome integrity. When associated (ChA+caffeine), there was an increase (P <0.05) in sperm motility and viability, PMHA and acrosome integrity. The addition of ChA to the dilution medium improves the quality of the swine inseminating doses. The addition of caffeine during re-warming is only recommended when the semen is stored for prolonged periods (72h), and the inseminating dose should be used immediately after its addition.(AU)


O objetivo deste estudo foi avaliar os efeitos da adição de ácido clorogênico (ChA) antes do resfriamento e sua combinação com cafeína adicionada durante o reaquecimento sobre a qualidade do sêmen suíno resfriado. Dez ejaculados foram diluídos em diluidor comercial com adição ou não de 4,5mg/mL de ChA e armazenados a 15°C. Após zero, 24 e 72 horas de armazenamento, 10mL foram retirados e incubados a 37°C na presença ou ausência de 8,0mM de cafeína. A qualidade seminal foi avaliada após 10 e 120 minutos de incubação. O ChA aumentou (P<0,01) a motilidade, a viabilidade, a integridade acrosomal e a porcentagem de espermatozoides com alta atividade mitocondrial (PMHA), entretanto diminuiu (P<0,01) a concentração de malondialdeído (MDA). A cafeína aumentou (P<0,05) a motilidade, a viabilidade, a PMHA e a concentração de MDA e reduziu a integridade acrossomal. Quando associados (ChA+cafeína), houve aumento (P<0,05) na motilidade, na PMHA, na viabilidade e na integridade acrossomal. Conclui-se que a adição de ChA ao meio de diluição melhora a qualidade das doses inseminantes de suínos. A adição de cafeína durante o reaquecimento só é recomendada ao sêmen adicionado de ChA quando esse for armazenado por períodos prolongados (72h), devendo a dose inseminante ser utilizada imediatamente após sua adição.(AU)


Assuntos
Animais , Masculino , Preservação do Sêmen/veterinária , Cafeína , Criopreservação/veterinária , Ácido Clorogênico , Sus scrofa , Motilidade dos Espermatozoides , Antioxidantes
3.
Arq. bras. med. vet. zootec. (Online) ; 71(2): 489-499, mar.-abr. 2019. tab
Artigo em Inglês | VETINDEX | ID: vti-23524

RESUMO

A study was conducted to evaluate the effect of chlorogenic acid (ChA) added pre-cooling and its combination with caffeine added during warming on cooled-stored boar semen parameters. Ten ejaculates were diluted in commercial extender with or without 4.5mg/ml ChA and stored at 15°C. After 0, 24 and 72 hours of storage, aliquots of these doses were taken and incubated at 37°C in the presence or absence of 8.0mM caffeine. Semen quality was evaluated after 10 and 120 minutes of incubation. The ChA increased (P <0.01) the sperm motility, viability, acrosomal integrity and the percentage of spermatozoa with high mitochondrial activity (PMHA), however, decreased (P <0.01) the malondialdehyde (MDA) concentration. Caffeine increased (P<0.05) the sperm motility, viability, PMHA and the MDA concentration and reduced (P <0.05) the acrosome integrity. When associated (ChA+caffeine), there was an increase (P <0.05) in sperm motility and viability, PMHA and acrosome integrity. The addition of ChA to the dilution medium improves the quality of the swine inseminating doses. The addition of caffeine during re-warming is only recommended when the semen is stored for prolonged periods (72h), and the inseminating dose should be used immediately after its addition.(AU)


O objetivo deste estudo foi avaliar os efeitos da adição de ácido clorogênico (ChA) antes do resfriamento e sua combinação com cafeína adicionada durante o reaquecimento sobre a qualidade do sêmen suíno resfriado. Dez ejaculados foram diluídos em diluidor comercial com adição ou não de 4,5mg/mL de ChA e armazenados a 15°C. Após zero, 24 e 72 horas de armazenamento, 10mL foram retirados e incubados a 37°C na presença ou ausência de 8,0mM de cafeína. A qualidade seminal foi avaliada após 10 e 120 minutos de incubação. O ChA aumentou (P<0,01) a motilidade, a viabilidade, a integridade acrosomal e a porcentagem de espermatozoides com alta atividade mitocondrial (PMHA), entretanto diminuiu (P<0,01) a concentração de malondialdeído (MDA). A cafeína aumentou (P<0,05) a motilidade, a viabilidade, a PMHA e a concentração de MDA e reduziu a integridade acrossomal. Quando associados (ChA+cafeína), houve aumento (P<0,05) na motilidade, na PMHA, na viabilidade e na integridade acrossomal. Conclui-se que a adição de ChA ao meio de diluição melhora a qualidade das doses inseminantes de suínos. A adição de cafeína durante o reaquecimento só é recomendada ao sêmen adicionado de ChA quando esse for armazenado por períodos prolongados (72h), devendo a dose inseminante ser utilizada imediatamente após sua adição.(AU)


Assuntos
Animais , Masculino , Preservação do Sêmen/veterinária , Cafeína , Criopreservação/veterinária , Ácido Clorogênico , Sus scrofa , Motilidade dos Espermatozoides , Antioxidantes
4.
Sci Rep ; 8(1): 17352, 2018 11 26.
Artigo em Inglês | MEDLINE | ID: mdl-30478379

RESUMO

Environmental insults, such as exposure to pathogens, modulate the behavioural coping style of animals to stressors, and repeated exposure to stressful environments may lead to species-specific infection phenotypes. To analyse the influence of stress behavioural phenotypes on immune and metabolic performance, gilthead sea bream (Sparus aurata L.) were first screened for proactive and reactive coping styles. Once characterized, both behavioural phenotypes fish groups were bath vaccinated with bacterin from Vibrio anguillarum, an opportunistic widespread pathogen of fish. Gills and liver were sampled at 0 (control group), 1, 3 and 7 days post-vaccination. Immune-, oxidative stress- and metabolic-related transcripts (il1ß, tnfα, igm, gpx1, sod, cat, lpl, ghr1 and ghr2), metabolic endpoints (glucose, cholesterol and triglycerides), hepatic health indicators (aspartate aminotransferase, alanine transaminase and alkaline phosphatase), oxidative stress status (esterase activity, total antioxidant capacity and total oxidative status) and stress biomarkers (cortisol) were determined. Present results indicate that screening for coping styles in the gilthead sea bream segregated the two distinct phenotypes as expected: proactive and reactive. Results also indicate that under bath vaccination proactive fish show high immune response and lower metabolism, whereas reactive fish show low immune and higher metabolic responses.


Assuntos
Vacinas Bacterianas/farmacologia , Doenças dos Peixes/prevenção & controle , Dourada/fisiologia , Vibrioses/veterinária , Vibrio/imunologia , Animais , Vacinas Bacterianas/imunologia , Comportamento Animal , Glicemia/análise , Doenças dos Peixes/imunologia , Doenças dos Peixes/microbiologia , Proteínas de Peixes/genética , Regulação da Expressão Gênica/efeitos dos fármacos , Regulação da Expressão Gênica/imunologia , Brânquias/efeitos dos fármacos , Brânquias/fisiologia , Hidrocortisona/sangue , Fígado/efeitos dos fármacos , Fígado/fisiologia , Dourada/microbiologia , Estresse Fisiológico , Vibrio/patogenicidade , Vibrioses/imunologia , Vibrioses/prevenção & controle
5.
Andrologia ; 50(5): e12978, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29508428

RESUMO

The aim of this study was to investigate the effect of chlorogenic acid (ChA) in boar semen stored at 15°C. Twelve ejaculates were processed into insemination doses at different concentrations of ChA (0.0, 1.5, 3.0, 4.0 and 6.0 mg/ml) or vitamin E (200 µl/ml) as positive control. Semen was analysed after 0, 24 and 72 hr of storage. ChA improved (p < .05) sperm motility, acrosome integrity and mitochondrial activity in all periods of storage. Furthermore, after 24 hr of storage, ChA above 1.5 mg/ml supported the sperm viability until 120 min after reheating (p < .05). Both ChA and vitamin E were similarly efficient in increasing the antioxidant capacity of semen, reducing the malondialdehyde levels before and after 72 hr of storage (p < .05). However, with 72 hr of storage, ChA at 3.0 mg/ml improved the mitochondrial activity over vitamin E (p < .05). In conclusion, results suggest that the concentration of 3.2 mg/ml of ChA is the best for semen stored for up to 24 hr. However, for semen stored for a longer period, 6.0 mg/ml or more should be used.


Assuntos
Ácido Clorogênico/administração & dosagem , Criopreservação/veterinária , Preservação do Sêmen/veterinária , Sêmen/efeitos dos fármacos , Motilidade dos Espermatozoides/efeitos dos fármacos , Animais , Criopreservação/métodos , Relação Dose-Resposta a Droga , Fertilização in vitro/métodos , Fertilização in vitro/veterinária , Masculino , Preservação do Sêmen/métodos , Suínos
6.
Clin Genet ; 93(2): 382-386, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-28436541

RESUMO

Maturity-Onset Diabetes of the Young (MODY) type 4 or PDX1 -MODY is a rare form of monogenic diabetes caused by heterozygous variants in PDX1 . Pancreatic developmental anomalies related to PDX1 are reported only in neonatal diabetes cases. Here, we describe dorsal pancreatic agenesis in 2 patients with PDX1 -MODY. The proband presented with diabetes since 14 years of age and maintained regular glycemic control with low doses of basal insulin and detectable C-peptide levels after 38 years with diabetes. A diagnosis of MODY was suspected. Targeted next-generation sequencing identified a heterozygous variant in PDX1 : c.188delC/p.Pro63Argfs*60. Computed tomography revealed caudal pancreatic agenesis. Low fecal elastase indicated exocrine insufficiency. His son had impaired glucose tolerance, presented similar pancreatic agenesis, and harbored the same allelic variant. The unusual presentation in this Brazilian family enabled expansion upon a rare disease phenotype, demonstrating the possibility of detecting pancreatic malformation even in cases of PDX1 -related diabetes diagnosed after the first year of life. This finding can improve the management of MODY4 patients, leading to precocious investigation of pancreatic dysgenesis and exocrine dysfunction.


Assuntos
Anormalidades Congênitas/genética , Diabetes Mellitus Tipo 2/genética , Proteínas de Homeodomínio/genética , Pâncreas/anormalidades , Doenças Raras/genética , Transativadores/genética , Brasil , Peptídeo C/genética , Pré-Escolar , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/fisiopatologia , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/fisiopatologia , Intolerância à Glucose/genética , Intolerância à Glucose/fisiopatologia , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Pâncreas/fisiopatologia , Elastase Pancreática/genética , Fenótipo , Doenças Raras/diagnóstico , Doenças Raras/fisiopatologia
7.
Clin Genet ; 92(4): 388-396, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28170077

RESUMO

Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. GCK -MODY and HNF1A -MODY are the prevalent subtypes. Currently, there is growing concern regarding the correct interpretation of molecular genetic findings. The American College of Medical Genetics and Genomics (ACMG) updated guidelines to interpret and classify molecular variants. This study aimed to determine the prevalence of MODY ( GCK / HNF1A ) in a large cohort of Brazilian families, to report variants related to phenotype, and to classify them according to ACMG guidelines. One hundred and nine probands were investigated, 45% with clinical suspicion of GCK -MODY and 55% with suspicion of HNF1A -MODY. Twenty-five different variants were identified in GCK gene (30 probands-61% of positivity), and 7 variants in HNF1A (10 probands-17% of positivity). Fourteen of them were novel (12- GCK /2- HNF1A ). ACMG guidelines were able to classify a large portion of variants as pathogenic (36%- GCK /86%- HNF1A ) and likely pathogenic (44%- GCK /14%- HNF1A ), with 16% (5/32) as uncertain significance. This allows us to determine the pathogenicity classification more efficiently, and also reinforces the suspected associations with the phenotype among novel variants.


Assuntos
Diabetes Mellitus Tipo 2/genética , Fator 1-alfa Nuclear de Hepatócito/genética , Proteínas Serina-Treonina Quinases/genética , Adolescente , Adulto , Brasil/epidemiologia , Criança , Pré-Escolar , Estudos de Coortes , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/patologia , Feminino , Quinases do Centro Germinativo , Humanos , Masculino , Mutação , Fenótipo , Adulto Jovem
8.
Rev. bras. pesqui. méd. biol ; Braz. j. med. biol. res;49(3): e5026, Mar. 2016. tab, graf
Artigo em Inglês | LILACS | ID: lil-771944

RESUMO

Hypertension is characterized by a pro-inflammatory status, including redox imbalance and increased levels of pro-inflammatory cytokines, which may be exacerbated after heat exposure. However, the effects of heat exposure, specifically in individuals with inflammatory chronic diseases such as hypertension, are complex and not well understood. This study compared the effects of heat exposure on plasma cytokine levels and redox status parameters in 8 hypertensive (H) and 8 normotensive (N) subjects (age: 46.5±1.3 and 45.6±1.4 years old, body mass index: 25.8±0.8 and 25.6±0.6 kg/m2, mean arterial pressure: 98.0±2.8 and 86.0±2.3 mmHg, respectively). They remained at rest in a sitting position for 10 min in a thermoneutral environment (22°C) followed by 30 min in a heated environmental chamber (38°C and 60% relative humidity). Blood samples were collected before and after heat exposure. Plasma cytokine levels were measured using sandwich ELISA kits. Plasma redox status was determined by thiobarbituric acid reactive substances (TBARS) levels and ferric reducing ability of plasma (FRAP). Hypertensive subjects showed higher plasma levels of IL-10 at baseline (P<0.05), although levels of this cytokine were similar between groups after heat exposure. Moreover, after heat exposure, hypertensive individuals showed higher plasma levels of soluble TNF receptor (sTNFR1) and lower TBARS (P<0.01) and FRAP (P<0.05) levels. Controlled hypertensive subjects, who use angiotensin-converting-enzyme inhibitor (ACE inhibitors), present an anti-inflammatory status and balanced redox status. Nevertheless, exposure to a heat stress condition seems to cause an imbalance in the redox status and an unregulated inflammatory response.


Assuntos
Humanos , Masculino , Adulto , Pessoa de Meia-Idade , Citocinas/sangue , Hipertensão/fisiopatologia , Pressão Arterial/fisiologia , Pressão Sanguínea/fisiologia , Estudos de Casos e Controles , Frequência Cardíaca/fisiologia , Temperatura Alta , Hipertensão/sangue , Inflamação/fisiopatologia , Peroxidação de Lipídeos/fisiologia , Oxirredução , Substâncias Reativas com Ácido Tiobarbitúrico/análise
9.
Braz J Med Biol Res ; 49(3)2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26840715

RESUMO

Hypertension is characterized by a pro-inflammatory status, including redox imbalance and increased levels of pro-inflammatory cytokines, which may be exacerbated after heat exposure. However, the effects of heat exposure, specifically in individuals with inflammatory chronic diseases such as hypertension, are complex and not well understood. This study compared the effects of heat exposure on plasma cytokine levels and redox status parameters in 8 hypertensive (H) and 8 normotensive (N) subjects (age: 46.5±1.3 and 45.6±1.4 years old, body mass index: 25.8±0.8 and 25.6±0.6 kg/m2, mean arterial pressure: 98.0±2.8 and 86.0±2.3 mmHg, respectively). They remained at rest in a sitting position for 10 min in a thermoneutral environment (22°C) followed by 30 min in a heated environmental chamber (38°C and 60% relative humidity). Blood samples were collected before and after heat exposure. Plasma cytokine levels were measured using sandwich ELISA kits. Plasma redox status was determined by thiobarbituric acid reactive substances (TBARS) levels and ferric reducing ability of plasma (FRAP). Hypertensive subjects showed higher plasma levels of IL-10 at baseline (P<0.05), although levels of this cytokine were similar between groups after heat exposure. Moreover, after heat exposure, hypertensive individuals showed higher plasma levels of soluble TNF receptor (sTNFR1) and lower TBARS (P<0.01) and FRAP (P<0.05) levels. Controlled hypertensive subjects, who use angiotensin-converting-enzyme inhibitor (ACE inhibitors), present an anti-inflammatory status and balanced redox status. Nevertheless, exposure to a heat stress condition seems to cause an imbalance in the redox status and an unregulated inflammatory response.


Assuntos
Citocinas/sangue , Temperatura Alta , Hipertensão/fisiopatologia , Adulto , Pressão Arterial/fisiologia , Pressão Sanguínea/fisiologia , Estudos de Casos e Controles , Frequência Cardíaca/fisiologia , Humanos , Hipertensão/sangue , Inflamação/fisiopatologia , Peroxidação de Lipídeos/fisiologia , Masculino , Pessoa de Meia-Idade , Oxirredução , Substâncias Reativas com Ácido Tiobarbitúrico/análise
10.
Rev. bras. pesqui. méd. biol ; Braz. j. med. biol. res;48(12): 1122-1129, Dec. 2015. tab, graf
Artigo em Inglês | LILACS | ID: lil-762918

RESUMO

Individuals with systemic arterial hypertension have a higher risk of heat-related complications. Thus, the aim of this study was to examine the thermoregulatory responses of hypertensive subjects during recovery from moderate-intensity exercise performed in the heat. A total of eight essential hypertensive (H) and eight normotensive (N) male subjects (age=46.5±1.3 and 45.6±1.4 years, body mass index=25.8±0.8 and 25.6±0.6 kg/m2, mean arterial pressure=98.0±2.8 and 86.0±2.3 mmHg, respectively) rested for 30 min, performed 1 h of treadmill exercise at 50% of maximal oxygen consumption, and rested for 1 h after exercise in an environmental chamber at 38°C and 60% relative humidity. Skin and core temperatures were measured to calculate heat exchange parameters. Mean arterial pressure was higher in the hypertensive than in the normotensive subjects throughout the experiment (P<0.05, unpaired t-test). The hypertensive subjects stored less heat (H=-24.23±3.99 W·m−2vs N=-13.63±2.24 W·m−2, P=0.03, unpaired t-test), experienced greater variations in body temperature (H=-0.62±0.05°C vsN=-0.35±0.12°C, P=0.03, unpaired t-test), and had more evaporated sweat (H=-106.1±4.59 W·m−2vs N=-91.15±3.24 W·m−2, P=0.01, unpaired t-test) than the normotensive subjects during the period of recovery from exercise. In conclusion, essential hypertensive subjects showed greater sweat evaporation and increased heat dissipation and body cooling relative to normotensive subjects during recovery from moderate-intensity exercise performed in hot conditions.


Assuntos
Humanos , Masculino , Adulto , Pessoa de Meia-Idade , Regulação da Temperatura Corporal/fisiologia , Meio Ambiente , Exercício Físico/fisiologia , Temperatura Alta , Hipertensão/fisiopatologia , Pressão Arterial/fisiologia , Frequência Cardíaca , Consumo de Oxigênio/fisiologia , Corrida/fisiologia , Suor/fisiologia
11.
Braz J Med Biol Res ; 48(12): 1122-9, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26517335

RESUMO

Individuals with systemic arterial hypertension have a higher risk of heat-related complications. Thus, the aim of this study was to examine the thermoregulatory responses of hypertensive subjects during recovery from moderate-intensity exercise performed in the heat. A total of eight essential hypertensive (H) and eight normotensive (N) male subjects (age=46.5±1.3 and 45.6±1.4 years, body mass index=25.8±0.8 and 25.6±0.6 kg/m2, mean arterial pressure=98.0±2.8 and 86.0±2.3 mmHg, respectively) rested for 30 min, performed 1 h of treadmill exercise at 50% of maximal oxygen consumption, and rested for 1 h after exercise in an environmental chamber at 38°C and 60% relative humidity. Skin and core temperatures were measured to calculate heat exchange parameters. Mean arterial pressure was higher in the hypertensive than in the normotensive subjects throughout the experiment (P<0.05, unpaired t-test). The hypertensive subjects stored less heat (H=-24.23±3.99 W·m-2vs N=-13.63±2.24 W·m-2, P=0.03, unpaired t-test), experienced greater variations in body temperature (H=-0.62±0.05°C vsN=-0.35±0.12°C, P=0.03, unpaired t-test), and had more evaporated sweat (H=-106.1±4.59 W·m-2vs N=-91.15±3.24 W·m-2, P=0.01, unpaired t-test) than the normotensive subjects during the period of recovery from exercise. In conclusion, essential hypertensive subjects showed greater sweat evaporation and increased heat dissipation and body cooling relative to normotensive subjects during recovery from moderate-intensity exercise performed in hot conditions.


Assuntos
Regulação da Temperatura Corporal/fisiologia , Meio Ambiente , Exercício Físico/fisiologia , Temperatura Alta , Hipertensão/fisiopatologia , Adulto , Pressão Arterial/fisiologia , Frequência Cardíaca , Humanos , Masculino , Pessoa de Meia-Idade , Consumo de Oxigênio/fisiologia , Corrida/fisiologia , Suor/fisiologia
12.
Eur J Endocrinol ; 163(1): 29-34, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20371656

RESUMO

CONTEXT: Loss-of-function mutations of the kisspeptin-1 receptor gene, KISS1R, have been identified in patients with normosmic isolated hypogonadotropic hypogonadism (nIHH). OBJECTIVE: To investigate KISS1R defects in patients with absent or delayed puberty. PATIENTS: We investigated KISS1R gene defects in a cohort of 99 Brazilian patients with nIHH or constitutional delay of puberty (CDP). METHODS: The entire coding region of KISS1R was amplified by PCR followed by automatic sequencing. In addition, screening for KISS1R exonic deletions was performed by multiplex ligation-dependent probe amplification. RESULTS: One novel homozygous KISS1R mutation was identified in two siblings with nIHH. This variant was an insertion/deletion (indel) mutation characterized by the deletion of three nucleotides (GCA) at position -2 to -4, and by the insertion of seven nucleotides (ACCGGCT) at the same position, within the 3' splice acceptor site of intron 2 of KISS1R. The brothers who carried this KISS1R mutation had no clinical evidence of pubertal development at the ages of 14 and 20 years. Computational analysis of this indel mutation predicted the generation of an abnormal protein. In addition, a new heterozygous KISS1R variant (p.E252Q) was identified in a male patient with sporadic nIHH. However, in vitro studies of this variant did not demonstrate functional impairment. Only known polymorphisms were identified in patients with CDP. CONCLUSION: Loss-of-function mutations of KISS1R represents a rare cause of nIHH, and was absent in patients with CDP. We have described a novel KISS1R homozygous splice acceptor site mutation in the familial form of nIHH.


Assuntos
Homozigoto , Hipogonadismo/genética , Sítios de Splice de RNA/genética , Receptores Acoplados a Proteínas G/genética , Animais , Brasil , Células COS , Chlorocebus aethiops , Feminino , Humanos , Masculino , Mutação/genética , Puberdade Tardia/genética , Receptores de Kisspeptina-1 , Irmãos
13.
Nutr Hosp ; 18(3): 138-46, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12875089

RESUMO

UNLABELLED: Changes in nutritional status are important in clinical practice because they relate to an increase in morbidity and mortality. Studies about nutritional problems in hospitalized adults have been reported since the 1970s. The prevalence of malnutrition has varied from 10 to 70%, depending on the diagnostic criteria used. The hospital studied and the duration of admission. AIM: To assess, in the first day of hospital stay, the nutritional status of adults admitted to undergo elective surgery in a public hospital of the State of Acre, Amazon Region, Brazil. STUDY DESIGN: Sectional study from April 7 to May 22, 2002. PATIENTS AND METHODS: 155 consecutive nutritional evaluations were performed using several parameters-global subjective assessment (GSA), anthropometric measurement and some laboratory tests. For the diagnosis of malnutrition the Index Suggestive of Malnutrition (ISM), as proposed by Waitzberg, was adopted. In the evaluation of obesity the BMI (Body Mass Index), with cutoffs suggested by WHO was used. RESULTS: 75.2% were women. Average age was 34.4 +/- 10.1 years. Mulatto (63.1%) was the prevailing racial group. Gynecological (43.6%) was the most frequent surgery. ISM disclosed a 12.1% prevalence of malnutrition. BMI classified 2.0% of the patients as grade I overweight and 15.4% as being obese. Among 76 patients classified as normal by BMI, 15 (19.7%) were considered malnourished by ISM criteria. Concordance between ISM and BMI was weak (k = 0.07). GSA classified 100% of the cases as well nourished. CONCLUSION: Lack of a golden standard to make the diagnosis of changes in nutritional status has been one of the determinants of the wide variations observed in the pertinent literature and it has hindered valid comparisons. The present study suggests that BMI should be used as an indicator of proportion and not of nutritional status. GSA underestimates the diagnosis of malnutrition. This paper concludes that establishing uniform standards for diagnostic criteria for malnutrition is urgently required and suggests preferring IMS (Index Suggestive of Malnutrition) because of its easy use, low coast and high sensitivity.


Assuntos
Avaliação Nutricional , Distúrbios Nutricionais/epidemiologia , Adulto , Antropometria , Brasil/epidemiologia , Estudos Transversais , Feminino , Hospitais Públicos , Humanos , Pacientes Internados , Masculino , Pessoa de Meia-Idade , Estado Nutricional
14.
Biol Neonate ; 80(3): 239-46, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11585990

RESUMO

Number of nephrons, renal hemodynamics, and glomerular morphometry were assessed in rats submitted to a multideficient diet which was developed from a basic regional diet consumed in a Brazilian region of sugarcane cultivation. We evaluated three groups of male Wistar rat offspring: (1) from dams fed a standard diet throughout mating, pregnancy and lactation (control group) and (2) from dams fed the multideficient diet during mating and pregnancy (MalN1 group) or (3) throughout mating, pregnancy, and lactation (MalN2 group). At adult age, the animals were anesthetized to measure mean arterial blood pressure and renal hemodynamics. The MalN1 group, as compared with the control group, showed unaltered body and kidney weights, nephron deficiency, a high mean arterial blood pressure, glomerular hypertrophy, and renal vasoconstriction. The MalN2 group showed the same nephron deficiency and mean arterial blood pressure levels as the MalN1 group. These animals exhibited lower body and kidney weights and no glomerular hypertrophy. In conclusion, the alterations induced by intrauterine malnutrition are compatible with the development of chronic renal failure.


Assuntos
Peso ao Nascer , Hemodinâmica , Glomérulos Renais/patologia , Rim/irrigação sanguínea , Distúrbios Nutricionais/complicações , Efeitos Tardios da Exposição Pré-Natal , Animais , Pressão Sanguínea , Proteínas Sanguíneas/análise , Peso Corporal , Brasil , Dieta , Feminino , Falência Renal Crônica/etiologia , Masculino , Natriurese , Tamanho do Órgão , Gravidez , Ratos , Ratos Wistar
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