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1.
Clin Lab ; 66(9)2020 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-32902220

RESUMO

BACKGROUND: The role of creatine (Cr) and creatine kinase (CK) in sperm function remains unclear. The study aimed to assess Cr and CK in seminal plasma and test their association with sperm characteristics. METHODS: The study included 62 males with couple's infertility and 26 males who have already fathered children. Semen Cr and CK were assessed by GC-MS and spectrophotometry, respectively. Seminogram parameters were analyzed using conventional methods. RESULTS: Cytomorphologic analysis of sperm showed normozoospermia in 53 men (NS) and an asthenozoospermia (AS) in 35 men. Semen Cr was high with no significant difference between the two groups (791 ± 342 and 744 ± 422 µmol/L, respectively). However, semen CK activity was higher in AS group (1,360 ± 1,050 vs. 830 ± 580 U/L, p = 0.013). Semen Cr was positively related to progressive motility (r = 0.284; p = 0.010). Semen CK was negatively correlated with sperm concentration (r = -0.29; p = 0.01), progressive motility (r = -0.26; p = 0.03), and the percentage of abnormal spermatozoa (r = -0.28; p = 0.02). CONCLUSIONS: Semen contains high amounts of Cr and increased CK activity. Low semen Cr is associated with reduced sperm motility while high CK activity is associated with poor sperm quality. The findings suggest that Cr is of importance for sperm metabolism and that Cr supplementation could be useful in males with poor quality sperm.


Assuntos
Infertilidade Masculina , Sêmen , Criança , Creatina , Creatina Quinase , Humanos , Infertilidade Masculina/diagnóstico , Masculino , Motilidade dos Espermatozoides , Espermatozoides
2.
Tunis Med ; 90(3): 258-61, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22481200

RESUMO

BACKGROUND: Inborn errors of metabolism are neglected in developing countries because they are not as common as infectious and nutritional disorders. In Tunisia, no information is available on the incidence and epidemiological features of these inherited metabolic diseases. AIMS: To precise the profile of aminoacidopathies other than phenylketonuria and organic acidurias and to estimate their incidences in Tunisia. METHODS: Between 1987 and 2009, our laboratory received 13171 requests for analysis of patients with symptoms suggestive of inborn errors of metabolism. For these cases, ion exchange chromatography of free amino acids was performed on amino acids analyser. Urinary organic acids profiles were determined by gas chromatography-mass spectrometry. RESULTS: Abnormal cases were 370 (2.8%), divided into 212 cases of aminoacidopathies (57.3%) and 158 cases of organic acidurias (42.7%). The most frequent aminoacidopathies, were maple syrup disease (32.5%), tyrosinemia type I (28.8%) and nonketotic hyperglycinemia (16%). Methylmalonic aciduria (33.5%), propionic aciduria (18.4%) and 2-hyrdoxy glutaric aciduria (10.8%) were the most frequent organic acidurias. The incidences were calculated using the Hardy-Weinberg formula and were estimated at 1/13716 for maple syrup disease, 1/14804 for tyrosinemia type I, 1/16144 for methylmalonic aciduria and 1/23176 for propionic aciduria. CONCLUSION: Aminoacidopathies and organic acidurias turned out to be highly frequent in Tunisia, mainly because of a high rate of consanguinity. We believe that they are underestimated. To improve their diagnosis, it is necessary to have available sophisticated equipment which would allow early treatment of patients.


Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/epidemiologia , Adolescente , Adulto , Transtornos Congênitos do Transporte de Aminoácidos/diagnóstico , Transtornos Congênitos do Transporte de Aminoácidos/epidemiologia , Criança , Pré-Escolar , Coleta de Dados , Feminino , Cromatografia Gasosa-Espectrometria de Massas/métodos , Humanos , Incidência , Lactente , Masculino , Programas de Rastreamento/métodos , Estudos Retrospectivos , Fatores de Tempo , Tunísia/epidemiologia , Adulto Jovem
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