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BACKGROUND CONTEXTAnterior cervical discectomy and fusion is a common procedure for degenerative cervical radiculopathy. In 1996, Dr. H.D. Jho reported an operative technique allowing nerve root decompression via anterior uncoforaminotomy whereas avoiding fusion.PURPOSETo assess long-term clinical and radiological outcomes of anterior uncoforaminotomy in patients with degenerative cervical spine pathology.STUDY DESIGNA single clinic, retrospective cohort study.PATIENT SAMPLEAdult patients who underwent anterior uncoforaminotomy from 2013 to 2018.OUTCOME MEASURESClinical outcomes were assessed using VAS, NDI, SF-36 criteria. Radiological parameters included sagittal balance, disc height and White anPanjabi criterion.MATERIALS AND METHODSAll patients underwent unilateral single-level anterior uncoforaminotomy, and long-term clinical and radiologic follow up was carried out. Clinical outcomes were assessed using VAS, NDI, SF-36 criteria. Radiological parameters evaluated included sagittal balance, disc height and White and Panjabi criteria (3.5 mm of translation, 11 degrees of kyphosis). The mean follow-up period was 33.3 ± 10.6 months (range 12–57 months).RESULTSAll measures of clinical outcome improved. VAS (neck) and VAS (arm) decreased 3 [2; 4] and 5 [3; 5.2] points (median [interquartile range]), respectively (p<0.001); NDI improved from 0.38 [0.36; 0.4], to 0.29 [0.22; 0.34] (p<0.001). Two patients (6%) required additional surgery one year after operation. There were no complications in the perioperative period. Disc height decreased 0.8 mm [0.1; 2.1] (p<0.001). All patients retained stability of the cervical spine based on White and Panjabi criteria. Sagittal balance parameters did not change significantly.CONCLUSIONUncoforaminotomy is an effective and safe method to decompress a unilateral single-level nerve root in degenerative cervical radiculopathy whereas preserving anatomy and motion of the cervical spine.  相似文献   
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Fanconi anemia (FA) is a rare genetic disorder characterized by congenital malformations, progressive bone marrow failure (BMF), and susceptibility to malignancies. FA is caused by biallelic or hemizygous mutations in one of 15 known FA genes, whose products are involved in the FA/BRCA DNA damage response pathway. Here, we report on a patient with previously unknown mutations of the most recently identified FA gene, SLX4/FANCP. Whole exome sequencing (WES) revealed a nonsense mutation and an unusual splice site mutation resulting in the partial replacement of exonic with intronic bases, thereby removing a nuclear localization signal. Immunoblotting detected no residual SLX4 protein, which was consistent with abrogated interactions with XPF/ERCC1 and MUS81/EME1. This cellular finding did not result in a more severe clinical phenotype than that of previously reported FA‐P patients. Our study additionally exemplifies the versatility of WES for the detection of mutations in heterogenic disorders such as FA.  相似文献   
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Relationship between activity of nucleolar organizer regions in chromosomes and somatometric parameters was studied in residents of the Kursk region. Significant differences in the somatometric parameters were revealed between the three groups differing by the number of nucleolar organizer regions, which can be explained by different proliferative activities in these groups. A greater number of nucleolar organizer regions was associated with a trend to greater body weight and body mass index, waist and hip circumferences, waist to hip circumference ratio, and shoulder width in men and increased body height, greater body weight and body mass index, hip circumference, and leg length in women. Translated from Byulleten’ Eksperimental’noi Biologii i Meditsiny, Vol. 147, No. 1, pp. 82-85, January, 2009  相似文献   
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AIM: Assessment of the efficacy of dry high-dispersive aerosol of sodium chloride--the main acting factor of haloaerosol therapy--on defense system of the respiratory tract. MATERIAL AND METHODS: 188 patients with respiratory disease and at risk of pulmonary pathology received course of haloaerosol therapy. 49 matched patients were given placebo. The effect of the treatment was assessed by clinicoendoscopic picture, cytomorphological and bacteriological characteristics of the bronchoalveolar lavage, contamination activity of the microflora, activity of local humoral immunity in pharyngeal brush-biopsies and saliva, rheological indices of the sputum. RESULTS: Dry aerosol of sodium chloride demonstrated antiinflammatory activity in the respiratory tract, mucoregulating action. It enhances drainage of the bronchi, activates alveolar macrophages, improves biocenosis and local humoral immunity. CONCLUSION: Haloaerosol therapy has positive effect on the defense system, improves function of the respiratory tracts.  相似文献   
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