ABSTRACT
<p><b>OBJECTIVE</b>To determine the frequency of spinocerebellar ataxia type 31 (SCA31) related mutations among patients from mainland China.</p><p><b>METHODS</b>For a cohort of molecularly unassigned patients comprised of 295 SCA patients (including 98 probands from families featuring autosomal dominant SCA and 197 sporadic cases) and 81 patients with hereditary spastic paraplegia (HSP) (including 23 probands from families with autosomal dominant HSP and 58 sporadic cases),TGGAA pentanucleotide expansion insertional mutation of the BEAN/TK2 gene was detected using repeat-primed PCR followed by capillary gel electrophoresis.</p><p><b>RESULTS</b>No TGGAA pentanucleotide insertion expansion in BEAN/TK2 gene was identified in the above cohort.</p><p><b>CONCLUSION</b>SCA31 is an extremely rare subtype of SCA and should not be included in routine genetic screening in mainland China.</p>
ABSTRACT
Objective To improve overall value of healthcare industry through setting up critical inpatient medical services strategic plan.Methods Identify major objectives which the local government expects to achieve through strategic map; Standardize inpatient output and assign weight to each group through diagonosis related groups; Translate the objectives of strategic map and result of diagnosis related group to Balanced Score-card; Finally build up strategic map and according action plans.ResultsPreliminarily established 16 objectives、23 measures and 13 tasks in four perspectives including customer,internal work flow,learning and growing and finance.ConclusionThe strategy map and the balanced score-card can help implement full strategic plan of regional inpatient medical services; DRGs is a core management tool of patient-centred service output management; Balanced Score-card is able to realize continuous improvement of Beijing inpatient medical services from macro to micro persoetive.