Objective To investigate the clinical features and the efficient therapy of acute promyelocytic leukemia(APL)with high initial white blood cell(WBC)count.Methods The clinical features of 66 newly diagnosed APL patients with high initial WBC and 152 patients without high initial WBC from the First Affiliated Hospital of Soochow University between October 1993 and August 2006 were retrospectively analyzed.Additionally,66 patients with high WBC were divided into different groups according to the different induction therapy and the therapeutic effects were compared.Results The early death rate and the incidence of disseminated intravascular coagulation(DIC)and retinoic acid syndrome(RAS)were 30.3%,57.6% and 31.8% respectively for the group with high initial WBC,which were higher than the indexes of 7.2%,38.1% and 21.05% respectively for the group without high initial WBC(P

Objective:To investigate the clinical and genetic characteristics, pathogenesis and treatment strategy of congenital nephrogenic diabetes insipidus(CNDI)combined with hyperuricemia.Methods:The clinical manifestations and laboratory data of an infant patient diagnosed as CNDI with hyperuricemia and his family members were collected and retrospectively analyzed. Whole exome sequencing(WES)was applied to detect the proband′s genome variation of each exon and suspected variants of AVPR2 and ABCG2 were verified by PCR-Sanger sequencing of members from his pedigree. Furthermore, we retrospectively collected the serum uric acid levels of patients(≤14-year-old) with CNDI in the First Affiliated Hospital of Zhengzhou University from January 2015 to January 2022.Results:The proband was clinically diagnosed with CNDI and the rest of the family members had no symptoms of polydipsia or polyuria. In addition to the proband, his father was also suffered from hyperuricemia. WES showed that the proband carried a hemizygous AVPR2 gene variation(p.S331R)and a heterozygous ABCG2 gene variation(p.N308K). The former was X-linked recessive inheritance from his mother, and the latter was autosomal dominant inheritance from the father. Fraction excretion of uric acid(FEUA)of the proband and his father with hyperuricemia were 3.1% and 2.7%, respectively. Twelve children(≤14-year-old)were diagnosed with CNDI from the respective study. Among all the cases, 11 patients were male and 1 was female, ranging from 3-month to 14-year-old. Five patients were accompanied with hyperuricemia.Conclusion:Children with CNDI may be complicated with hyperuricemia, and the regimen of hydrochlorothiazide combined with benzbromarone is effective. The pathogenicity of the AVPR2 gene variation(p.S331R)and ABCG2 gene variation(p.N308K)in this pedigree needs to be further studied.

Objective:To investigate the current situation of diet management in patients with colorectal cancer after stent-based diverting technique, and to provide basis for formulating relevant nursing intervention strategies.Methods:Objective sampling method was used to conduct semi-structured interviews on 15 patients who underwent stent-based diverting technique for colorectal cancer and had the bypass tube removed from Sir Run Run Shaw Hospital Affiliated to Medical College of Zhejiang University from March to July 2023. The interview outline was established based on information-motivation-behavioral skills(IMB) model, and the data were analyzed, summarized and extracted by Colaizzi 7-step analysis method.Results:There were 10 males and 5 females, aged 34-76 years old. According to the three elements of the IMB model, the current situation of diet management was summarized into nine themes. The information included the difficulty in obtaining effective diet guidance information, the lack of specific diet guidance content, the need for individualized diet information guidance mode, and the poor continuity of information exchange after discharge. The motivations included ignoring the importance of diet management, dislike the taste of oral nutritional preparations, and weak support from family members. Behavioral skills include inadequate tube care skills and lack of oral nutrition preparation skills.Conclusions:There are many problems in the diet management of patients after colorectal cancer stent-based diverting technique. Medical staff should optimize the diet education information of colorectal cancer patients after surgery, provide multi-level, multi-time and multi-form continuous care, mobilize the active participation of family members, improve the motivation of patients′ diet management, refine the nursing process of the bypass tube, strengthen the application guidance of oral nutrition preparation skills, and improve patients′ diet management ability.

Objective: To evaluate the clinical characteristics and prognosis of 3q26 rearrangements in chronic myeloid leukemia (CML) patients. Methods: The clinical and laboratory data of 1 075 patients with CML diagnosed from 2010 to 2016 were retrospectively analyzed, and they were divided into 3q26 rearrangement positive group (n=19) and 3q26 rearrangement negative group (n=1 056). The expression of EVI1, ABL kinase region mutation and survival time between the two groups were compared. Meanwhile, the prognostic effects of three treatment methods, including tyrosine kinase inhibitors (TKIs), TKIs combined with chemotherapy and allogeneic hematopoietic stem cell transplantation, on the patients with 3q26 rearrangements were compared. Results: Most of the patients with 3q26 rearrangements were in the advanced phase (χ 2 =181.233, P＜0.01), and the median time to enter the acute phase was shorter (9.5 months). The mutation ratio of ABL kinase region and expression levels of EVI1 in 3q26 rearrangement positive group were significantly higher than that in the negative group (χ 2 =16.758, P＜0.01; Z/U=-0.331 9, P＜0.01). After treatment with TKIs, the median survival time of the 3q26 rearrangement positive group was significantly shorter than that of the negative group (χ 2 =313.229, P＜0.01). The prognosis of the patients treated with hematopoietic stem cell transplantation was better than that with TKIs (P=0.049). Conclusion The CML patients with 3q26 rearrangements have a higher risk of sudden change, shorter survival time and poor prognosis. Hematopoietic stem cell transplantation may improve their prognosis.