Objective To explore clinical effects and operative experience of transanal pull-through procedure for Hirschsprung's disease (HD).Methods The clinical data of 126 children aged from 13 days to 14 years with HD were reviewed.There were 30 cases of short-segment type,85 of common type,and 11 of long-segment type.A total of 95 cases was operated with modified Soave and the other 31 cases were operated with modified Swenson.Results Except two-stage resection in 7(5.6％) cases who already underwent transanal Soave procedure early,one-stage transanal pull-through procedure was performed in the other cases.Laparotomy assisted operation was used for 5 cases and laparoscope assisted operation for 12 cases.The complications were occurred in 35 (27.8％) cases post-operation,including 15 perianatitis,9 enterocolitis,5 anastomotic stenosis,2 soiling,and 4 reoperation.The statistical analysis indicated no difference between two procedures and postoperative complications could be noted between different types (P ＞0.05).A total of 103 patients were followed up from 1 to 10 (mean 2) years.Of all patients,96 (93.2％) were cured,5 (4.9％) symptoms were improved and 2(1.9％) were failed.There were no significant differences in two procedure and the excellent rate of defecation function(P ＞ 0.05).Conclusions Two transanal procedures for HD both had a good efficacy and similar complications.By comparison,transanal Swenson procedure was simpler than Soave procedure,and did not need to enlarge anus post-operation as well.

Objective To investigate the clinical features of Menkes disease(MD)caused by ATP7A gene mutation.Methods Clinical data of one MD patient was retrospectively analyzed,and the literature on the MD cases was reviewed.Results The patient was a 7-month-old male.The initial symptoms were epilepsy,feeding difficulties and psychomotor retardation,followed by distinctive facial appearance,hair abnormality,pectus excavatum and hypotonia.Biochemical tests revealed reduced serum ceruloplasmin and copper.Brain MRI showed diffuse cerebral atrophy,cerebral dysplasia and subdural effusion.Genetic testing showed that there was a new hemizygous mutation c.2916+2(IVS14)T＞C in the ATP7A gene splicing site on the X chromosome,which verified that the mother was a heterozygous carrier with a normal phenotype.Conclusions MD often starts in infancy and childhood.MD may involve multi-system such as the nervous system and connective tissues,and should be diagnosed with genetic testing.

Objective:To improve the therapeutic regimen for mantle cell lymphoma,we investigated the efficacy and safety of adding a BTK inhibitor to a regimen including rituximab,bendamustine,cytarabine,and prednisone to treat patients with mantle cell lymphoma(MCL).Methods:Twenty-six patients newly diagnosed with MCL who were admitted to The First Affiliated Hospital of Zhengzhou University from March 2021 to November 2023 were treated with a regimen of rituximab,bendamustine,cytarabine and prednisone combined with a BTK inhibitor,and the efficacy and adverse effects of this regiment were retrospectively analyzed.Results:The median age of the 26 newly dia-gnosed MCL patients was 59(41-72)years.The cohort included 22 males and 4 females,and the median follow-up time was 12(3-28)months.The overall response rate(ORR)was 92.3%and the complete response rate(CRR)was 88.5%.Median progression-free survival(PFS)and median overall survival(OS)endpoints were not achieved,with a 1-year PFS rate of 81.25%and a 1-year OS rate of 92.3%.A bet-ter PFS was achieved in the low mantle cell lymphoma International Prognostic Index(MIPI)score(0-3 points)group than in the high MIPI score(4-11 points)group(P=0.020).PFS was better in the group without B symptoms than in the group with B symptoms(P=0.002).PFS was better in the classical group than in the pleomorphic-blastoid subtype group(P=0.009).The main adverse effects were lymphopenia and thrombocytopenia.No treatment-related serious adverse events were observed during the follow-up period.Conclusions:The regimen of rituximab,bendamustine,cytarabine,and prednisone in combination with BTK inhibitors is safe and effective for the treatment of newly dia-gnosed patients with MCL.