RESUMEN
Methionine sulfoxide reductase A (MsrA) is an antioxidant enzyme that repairs the oxidation of methionine residues in proteins and free methionine in autism spectrum disorder (ASD). The present study aimed to assess the level of MsrA and neurotransmission enzymes in ASD individuals. Results confirmed that ASD associated with significant (P<0.05) reduction of MsrA and modulated mission enzymes. The role of MsrA as repair enzyme should be taken into account for study the activity of brain enzymes and proteins in ASD including ASMT that has a role in melatonin problems production in ASD due to higher AANAT level. The influence of MsrA also should be studied with MAT in mice to give more evidence.
Asunto(s)
Trastorno del Espectro Autista , Metionina Sulfóxido Reductasas , Humanos , Trastorno del Espectro Autista/enzimología , Metionina Sulfóxido Reductasas/metabolismo , Metionina Sulfóxido Reductasas/genética , Masculino , Femenino , Transmisión Sináptica , Niño , Melatonina/metabolismo , Adolescente , Preescolar , Adulto , Estudios de Casos y Controles , 5-Metiltetrahidrofolato-Homocisteína S-Metiltransferasa/metabolismo , 5-Metiltetrahidrofolato-Homocisteína S-Metiltransferasa/genéticaRESUMEN
The present prospective case control study was carried out to assess the role of C-reactive protein (CRP) level as a diagnostic and prognostic tool of tuberculous patients. The study was conducted in the Department of Paediatrics over a period of one year. Total 60 persons were included. Case was 30 and control was 30. Out of 30 tuberculosis patients 18(60%) had pulmonary tuberculosis, 6(20%) had abdominal TB, 3(10%) had pleural effusion and 3(10%) had tubercular lymphadenopathy. CRP was positive>6 mg/L in 25(83.3%) cases. CRP level was negative after 4 weeks of treatment. There is significant difference at p<0.001 in serum CRP level in between tuberculosis and healthy children. The study concluded that CRP level is a useful indication for diagnosis and prognosis of tuberculous patients.
Asunto(s)
Proteína C-Reactiva/análisis , Tuberculosis/sangre , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Humanos , Masculino , Pronóstico , Estudios ProspectivosRESUMEN
Metachromatic leukodystrophy (MLD) is the rare neurometabolic disease caused by the deficiency of a lysosomal enzyme arylsulfatase A (ARSA) activity. The absence or deficiency of arylsulfatase a leads to accumulation of cerebroside sulfate within the myelinseath of the central nervous system (CNS) and the peripheral nervous system (PNS). This in turn causes the CNS and PNS to progressively deteriorate leading to both features of upper and lower motor neuron dysfunctions. Metachromatic leukodystrophy gets its name from the way cells with an accumulation of salfatides appear when viewed under a microscope. The salfatides form granules that are described as metachromatic which means they pick up colour differently than surrounding cellular material when stained for examination. The clinical features of brain dysfunction like gait disturbance, speech, hearing and visual problems appear gradually, become progressive and fatal over time. Our patient a 5 years and 6 months old developmentally normal boy presenting walking difficulty since his 2 years and 6 months which was gradually increasing. During this period he also developed speech difficulty, seizure followed by unconsciousness and severe respiratory distress for ten days. His investigations were suggestive of metachromatic leukodystrophy. There is no specific treatment to cure the disease. So proper counseling was done regarding the bad prognosis of the disease with symptomatic treatment.