ABSTRACT
A male patient aged 1 year and 8 months with type 2 spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL2) was reported. The clinical characteristics included short stature, flat middle face, hypotonia, limb joint relaxation, hyperextension of metacarpophalangeal articulation, etc. In addition, the patient had a history of congenital laryngeal stridor. Thus, SEMDJL2 was determined according to the above symptoms and medical history. Sanger sequencing showed that the child carried a c.443C>T missense mutation in the KIF22 gene, which resulted in an amino acid variation namely p.Pro148Leu. This phenotype was preliminarily determined as a pathogenic mutation. Therefore, it is suggested that next-generation sequencing genetic testing could be helpful for genetic diagnosis in children with congenital laryngeal stridor, systemic joint relaxation, and excessive joint extension.
ABSTRACT
Objective To investigate the direct economic losses caused by healthcare-associated infection(HAI)in patients with acute lymphoblastic leukemia (ALL)and acute non-lymphoblastic leukemia (ANLL).Methods All acute leukemia (AL)adult patients who were admitted to a hematology ward in a hospital between January 201 1 and December 2013 were included in the study,HAI group(case group)and non-HAI group (control group),ALL group and ANLL group were matched respectively in a 1:1 ratio,hospitalization expenses and length of hospital stay were compared.Results A total of 994 patients were included,166 were with ALL,828 with ANLL,there were 181 pairs of case group and control group,and 15 pairs of ALL group and ANLL group. Direct economic los-ses in ALL group and ANLL group were 13 089.0 ￥ and 21 565.0 ￥ respectively ;extension of length of hospital stay due to HAI were 10.5 and 10.0 days respectively,differences were statistically significant between case group and control group (both P<0.05). The total hospitalization expense,as well as fees for bed,consultation,treat-ment,laboratory examination,nursing,medicine,traditional Chinese medicine,and blood transfusion in ANLL group were all higher than ALL group,but there were no significant difference.Conclusion HAI in patients with AL can increase hospitalization cost and prolong length of hospital stay.
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Objective To investigate the direct economic loss caused by oral infection in patients with acute leuke-mia.Methods Acute leukemia patients with oral infection in a tertiary first-class hospital in Shandong Province be-tween January 2011 and December 2013 were investigated,the 1 :1 matched case-control method was used for com-paring hospitalization expense and length of hospital stay between oral infected (case group)and uninfected patients (control group ).Results A total of 994 patients with acute leukemia were monitored,277 had healthcare-associated infection,17 (5.56%)of whom were with oral infection.The median hospitalization expense of patients in case group and control group was￥37 327 and￥13 176 respectively,the total hospitalization expense of patients in case group was 2.83 times more than control group,difference was statistically significant (Z = -3.621 ,P <0.001).Each hospitalization expense of case group was higher than control group,especially expense for medicine, blood transfusion,laboratory examination,and therapy.The median length of hospital stay in case group and con-trol group were 17 days and 11 days respectively,rank sum test showed that difference in median length of hospital stay between two groups was statistically significant (Z =-3.627,P < 0.001 ).Conclusion Acute leukemia pa-tients with oral infection have increased hospitalization expense,prolonged length of hospital stay,and increased the financial burden.
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Objective To investigate the economic losses in kidney transplant patients with healthcare-associated lower respiratory tract infection(LRTI).Methods All transplant patients in a hospital from 2008 to 2012 were in-vestigated,patients with LRTI were in infection group(n=45),and patients without LRTI were in control group(n=266),hospitalization expenses and hospitalization days between two groups were compared.Results A total of 383 kidney transplant patients were included in the study,the incidence of LRTI was 11 .75% (n=45),median ex-pense of infection group and control group was ￥79 291 .82 and ￥72 185.14 respectively,the difference was not statistically significant (P >0.05).The largest increased expense in patients with LRTI was medicine (increased by￥5 429.82),medicine and examination expense in infection group were significantly higher than control group (￥39 123.17 vs ￥33 693.35;￥702.52 vs ￥593.73;P <0.05 ).The median hospitalization days in infection group and control group was 28.38 days and 21 .47 days respectively,there was significant difference between two groups(P <0.05 ).Conclusion Kidney transplant patients with LRTI suffer from a heavy financial burden,and their hospitalization days are prolonged,so measures should be taken to prevent the occurrence of LRTI and save limited medical resources.