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1.
World Neurosurg ; 126: e1330-e1336, 2019 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-30898753

RESUMEN

OBJECTIVE: Recent advances in endoscopic surgery have led to more patients being able to undergo endoscopic removal of hypertensive intracerebral hemorrhage (HICH). However, because of the minimal invasiveness, endoscopic HICH removal through a narrow surgical window can result in a low removal rate. The goal of the present study was to investigate the factors that affect the removal rate of HICH evacuation. METHODS: The data from 28 patients with supratentorial HICH who had undergone endoscopic hematoma evacuation were retrospectively analyzed. The inclusion criteria were spontaneous supratentorial HICH with a hematoma volume >30 mL, admission to the hospital within 24 hours of ictus, and a Glasgow coma scale score of ≥4. RESULTS: Of the 28 patients, 9 were women and 19 were men, ranging in age from 41 to 86 years (mean, 60.7 ± 12.7). The hematoma location was the basal ganglia in 25 patients and subcortical in 3 patients. The mean preoperative hematoma volume was 62.4 ± 22.5 mL. The hematoma removal rate was <60% for 11 patients (poor evacuation group) and ≥60% for in 17 patients (good evacuation group). Comparing the 2 groups, chronic renal failure treated with hemodialysis (P = 0.0072, χ2 test), liver cirrhosis (P = 0.023, χ2 test), and surgeon experience with ≥10 cases of endoscopic HICH removal (P = 0.016, χ2 test) were significant factors related to the HICH removal rate. CONCLUSION: To achieve a good removal rate, surgeons should have experience performing the endoscopic procedure. Also, patients with end-stage chronic renal failure or liver cirrhosis should be excluded.


Asunto(s)
Hematoma/cirugía , Hemorragia Intracraneal Hipertensiva/cirugía , Neuroendoscopía/métodos , Adulto , Anciano , Anciano de 80 o más Años , Anestesia Local , Femenino , Hematoma/etiología , Humanos , Hemorragia Intracraneal Hipertensiva/complicaciones , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Succión/métodos , Resultado del Tratamiento
2.
Hum Mol Genet ; 21(7): 1496-503, 2012 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-22171071

RESUMEN

Neural tube defects (NTDs), including spina bifida and anencephaly, are common birth defects of the central nervous system. The complex multigenic causation of human NTDs, together with the large number of possible candidate genes, has hampered efforts to delineate their molecular basis. Function of folate one-carbon metabolism (FOCM) has been implicated as a key determinant of susceptibility to NTDs. The glycine cleavage system (GCS) is a multi-enzyme component of mitochondrial folate metabolism, and GCS-encoding genes therefore represent candidates for involvement in NTDs. To investigate this possibility, we sequenced the coding regions of the GCS genes: AMT, GCSH and GLDC in NTD patients and controls. Two unique non-synonymous changes were identified in the AMT gene that were absent from controls. We also identified a splice acceptor site mutation and five different non-synonymous variants in GLDC, which were found to significantly impair enzymatic activity and represent putative causative mutations. In order to functionally test the requirement for GCS activity in neural tube closure, we generated mice that lack GCS activity, through mutation of AMT. Homozygous Amt(-/-) mice developed NTDs at high frequency. Although these NTDs were not preventable by supplemental folic acid, there was a partial rescue by methionine. Overall, our findings suggest that loss-of-function mutations in GCS genes predispose to NTDs in mice and humans. These data highlight the importance of adequate function of mitochondrial folate metabolism in neural tube closure.


Asunto(s)
Aminometiltransferasa/genética , Proteína H del Complejo de la Glicina Descarboxilasa/genética , Glicina-Deshidrogenasa (Descarboxilante)/genética , Mutación , Defectos del Tubo Neural/genética , Animales , Complejo Glicina-Descarboxilasa/metabolismo , Humanos , Ratones , Ratones Noqueados , Mutación Missense
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