RESUMEN
BACKGROUND: NBIA (neurodegeneration with brain iron accumulation) is a diverse collection of neurodegenerative illnesses defined by iron accumulation in the basal ganglia. The fatty acid hydroxylase-associated neurodegeneration, or FAHN, is one of the uncommon subtypes of NBIAs, associated with inherited autosomal recessive mutations in gene coding the membrane-bound fatty acid 2 hydroxylase (FA2H) enzyme. CASES: Here, we report two cases with FAHN from two unrelated families from Iran confirmed by whole exome sequencing. CONCLUSION: FAHN is an uncommon variant of NBIA that may manifest as spastic paraparesis without signs of iron buildup on brain imaging. As a result, it should be taken into account while making a differential diagnosis of the hereditary spastic paraplegia (HSP) syndrome, especially in individuals who lack iron deposits.
Asunto(s)
Trastornos Heredodegenerativos del Sistema Nervioso , Neurodegeneración Asociada a Pantotenato Quinasa , Paraplejía Espástica Hereditaria , Humanos , Encéfalo/diagnóstico por imagen , Trastornos Heredodegenerativos del Sistema Nervioso/genética , Irán , Hierro , Mutación/genética , Neurodegeneración Asociada a Pantotenato Quinasa/genética , Paraplejía Espástica Hereditaria/diagnóstico por imagen , Paraplejía Espástica Hereditaria/genéticaRESUMEN
Motor and psychiatric symptoms in patients with Parkinson's disease (PD) constitute some of the most problematic issues for both the patients and their caregivers. This study evaluated the short- and long-term efficacy of electroconvulsive therapy (ECT) in PD patients whose psychiatric symptoms had been exacerbated due to drug therapy. Fifteen PD patients were treated using an electroshock device at a range of 25-100 Joules over a period of 6 weeks, during 12 sessions. Motor and psychiatric symptoms of all patients were evaluated before conducting ECT as baseline, after 12 sessions of ECT at the 6th week, and one month after completion of the treatment at the 10th week. The results showed that the variables mentation, behavior, mood, performance of daily activities, and severity of motor and psychiatric symptoms, were significantly improved at the end of the 6th and 10th weeks when compared with the baseline. Moreover, the results revealed that the mean values were significantly different only for motor symptoms at the end of the study (10th week) compared with the second time point. The current trial may indicate that ECT could potentially serve as a viable treatment for PD patients with refractory psychiatric symptoms. However, due to waning efficacy of ECT, it is recommended that PD patients undergo a conventional treatment in conjunction with periodic ECT sessions to ensure an optimal medical outcome.
Asunto(s)
Terapia Electroconvulsiva/métodos , Enfermedad de Parkinson/terapia , Adulto , Anciano , Terapia Electroconvulsiva/efectos adversos , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
OBJECTIVE: In the current work, we investigated the cytotoxic and apoptotic effects of Thymoquinone (TQ), an active compound of Nigella sativa (N. sativa) and Cis-platinum, on normal renal epithelial (GP-293) and human renal adenocarcinoma cell lines (ACHN). METHODS: GP-293 and ACHN cell lines were cultured in Dulbecco's modified Eagle's medium (DMEM) with 10% Fetal bovine serum (FBS) and 1% penicillin plus streptomycin antibiotic. The MTT assay was used for cellular viability assessment. Viability of cells was observed using inverted light microscope 24, 48 and 72 h after exposure of the cells to various concentrations of TQ (1, 2.5, 5, 10, 50 and 100 µg/ml) and Cis-platinum (0.5, 1, 1.5, 2, 3, 6 and 12.5 µg/ml). Moreover, apoptosis was analyzed with a flow-cytometry method. The untreated cells were considered as control group. RESULTS: Morphological changes such as reduced cell number and increased intercellular distance and reduced cell viability in ACHN and GP-293cell lines were observed in both TQ and Cis-platinum groups; however, Cis-platinum had greater effect on ACHN cell line than GP-293 cell line. In addition, GP-293 cell line was more sensitive to TQ compared to ACHN cell line. Furthermore, TQ and Cis-platinum had apoptotic effects on both ACHN and GP-293 cell lines. CONCLUSION: Our findings demonstrated that TQ and Cis-platinum had cytotoxic and apoptotic effects on both cell lines, However, GP-293 cell line was more sensitive to TQ. Additionally, Cis-platinum was more effective on ACHN cell line than on GP-293 cell line.