Objective To determine the CT and MR findings of Madelung syndrome. MethodsFive cases of Madelung syndrome were collected in our hospital from February 2006 to June 2009, including 3 cases of typeⅠMadelung syndrome and 2 cases of typeⅡ Madelung syndrome. The 5 cases were all examined by CT, meanwhile 1 case by CT enhancement scanning and 2 cases by MR. The clinical characteristics and imaging manifestations were analyzed. Results CT and MR images in 3 patients of typeⅠMadelung syndrome displayed fat accumulation within the subcutaneous tissue of the upper trunk and deep layer tissue of neck. The diffuse masses were located around the neck, upper chest and shoulders, which were called horse collarandbuffalo humps. The other 2 cases of type Ⅱ Madelung syndrome displayed fat thickening within the subcutaneous tissue of the proximal extremities, anterior chest wall, showing special appearance of vigorous sailor. All the 5 patients showed fat deposit within the subcutaneous tissue of the anterior rectus abdominis, inguina and fat accumulation within the scrotum. CT showed proliferated fat at the subcutaneous tissue of the involved regions. The CT value of proliferated fat were between -30 and -70 HU. The proliferated fat tissue all could be displayed on MR T1WI,T2WI and T2WI fat suppression sequence, with typical hypointensity on T1WI and hyperintensity on T2WI, hypointensity on fat-suppression sequence and fibrous septation presenting among fat tissue. Conclusion Combination with the history of long-term alcohol abuse, the Madelung syndrome could be diagnosed by CT and MR, which had great value in the surgical planning for identifying the extent of disease.

Objective To discuss the emergency interventional therapy for ureter invasion by CACX, obstructive bilateral hydronephrosis and uremia complicated with hemorrhoea. Methods 5 cases with ureter invasion by CACX, obstructive bilateral hydronephrosis and uremia suffered from hemorrhoea during hemodialysis, who were performed with emergency interventional therapy. Results After therapy, hemostasis were realized in all cases, and all symptoms were alleviated, such as vaginal fluid and fall-swell in pelvis. The short-term total effective rate was 100% . Conclusion Interventional chemoembolization can be used in the treatment of CACX with acute hemorrhoea.

Objective To study the continuous drainage treatment by percutaneous puncture of Splenic Abscess (SA), which is due to double-embolization for treatment of liver cancer with hypersplenism. Methods 158 patients with liver cancer with hypersplenism were adopted as the subjects, of which, 7 ones were complicated with SA. Results The symptoms of the 7 ones were all alleviated, such as fever, abdominal pain, left interior pain. Conclusion Continuous drainage treatment by percutaneous puncture, combined with flushing abscess cavity by antibiotics solution, is very effective for SA due to double-embolization.

Objective To analyze the reasons of CT misdiagnosis of solid-pseudopapillary tumor of pancreas (SPTP), including wrong orientation, mislocation. Methods The literatures on SPTP were discussed. Results Lesions of SPTP could appear at any position of the pancreas. Conclusion The result is very significant for guiding treatment and judging prognosis.

Objective:To explore the effect of multimedia interactive teaching mode on the standardized residency training in department of geriatrics.Methods:This study selected 80 geriatric residents taking the standardized training in the Department of Geriatrics, First Hospital of Jilin University from October 2019 to October 2020, and they were randomly divided into experimental group and control group. The control group adopted the traditional teaching mode to train the residents, while the experimental group adopted the multimedia interactive teaching mode to train the residents. After training for 3 months, the theoretical knowledge and clinical skills examination results after the training, comprehensive ability before and after the training, and the satisfaction with the training mode after the training were compared between the two groups. SPSS 26.0 was performed for t test. Results:There were significant differences between the two groups in the scores of theoretical knowledge[(92.06±4.75) vs. (87.54±4.23)] and clinical skills [(89.63±4.28) vs. (80.09±4.13)]( P<0.05), and the scores of theoretical knowledge and clinical skills in the experimental group were significantly higher than those in the control group ( P<0.05). There was no significant difference in the scores of thinking ability, clinical practice ability, scientific research ability, innovation ability and doctor-patient communication ability between the two groups before the training ( P>0.05). However, after the training, the above abilities were all improved ( P<0.05), and the scores of the experimental group were significantly higher than those of the control group ( P<0.05). The satisfaction of the experimental group was higher than that of the control group in improving cognitive speed, improving understanding, enhancing memory, improving problem analysis, stimulating learning interest, improving classroom participation, knowledge expansion, cultivating critical thinking, improving overall clinical thinking, and improving clinical work proficiency ( P<0.05). Conclusion:The application of multimedia interactive teaching mode in standardized residency training of geriatrics can improve the theoretical knowledge and clinical skills examination results of residents, enhance their comprehensive ability, and improve their satisfaction with the training mode.

OBJECTIVE: To analyze gene variants in a Chinese pedigree with oculocutaneous albinism (OCA). METHODS: Gene sequencing of the proband and his parents was performed using chip capture high-throughput sequencing and Sanger sequencing techniques, and PolyPhen-2, SIFT, MutationTaster, and FATHMM software were used to predict the function of new variants. At the same time,the pedigree and variant genes of 4 albinism patients from this pedigree were analyzed. RESULTS: Sequencing results showed that the proband's TYR gene (NM_000372) has c.230G>A (p.Arg77Gln) and c.120_121insG (p.Asp42GlyfsTer35) compound heterozygous variants. The proband's father carries c.230G>A heterozygous variant, and the mother carries c.120_121insG heterozygous variant, indicating that the proband's two variants are from his father and mother. The former is a known missense variant, which can cause abnormal or loss of the original function of the protein polypeptide chain. The latter c.120_121insG(p.Asp42GlyfsTer35) is an unreported frameshift variant of the TYR gene subregion (EX1; CDS1). PolyPhen-2, SIFT, MutationTaster and FATHMM predictions are all prompted as "harmful variants". This variant caused the amino acid encoded protein to terminate prematurely, producing a truncated protein, which eventually formed a 76-amino acid short-type TYR protein instead of the 529-amino acid wild-type TYR protein. Through the pedigree analysis, the four patients in the pedigree are all of the same type of compound heterozygous variants, and the disease-causing genes are all from the patient's parents. They belong to a special form of consanguineous marriage within 5 generations. CONCLUSION The compound heterozygous variants of c.230G>A (p.Arg77Gln) and c.120_121insG (p.Asp42GlyfsTer35) of the TYR gene may underlie the disease in this pedigree. The gene sequencing results enrich the variant spectrum of the TYR gene, and has facilitated molecular diagnosis for the patient.
Albinism, Oculocutaneous/genetics* ; Consanguinity ; Heterozygote ; Humans ; Mutation ; Pedigree

Dynamic changes of the post-translational O-GlcNAc modification (O-GlcNAcylation) are controlled by O-linked β-N-acetylglucosamine (O-GlcNAc) transferase (OGT) and the glycoside hydrolase O-GlcNAcase (OGA) in cells. O-GlcNAcylation often occurs on serine (Ser) and threonine (Thr) residues of the specific substrate proteins via the addition of O-GlcNAc group by OGT. It has been known that O-GlcNAcylation is not only involved in many fundamental cellular processes, but also plays an important role in cancer development through various mechanisms. Recently, accumulating data reveal that O-GlcNAcylation at histones or non-histone proteins can lead to the start of the subsequent biological processes, suggesting that O-GlcNAcylation as 'protein code' or 'histone code' may provide recognition platforms or executive instructions for subsequent recruitment of proteins to carry out the specific functions. In this review, we summarize the interaction of O-GlcNAcylation and epigenetic changes, introduce recent research findings that link crosstalk between O-GlcNAcylation and epigenetic changes, and speculate on the potential coordination role of O-GlcNAcylation with epigenetic changes in intracellular biological processes.
Acetylglucosamine ; metabolism ; Animals ; Epigenesis, Genetic ; Glycoside Hydrolases ; metabolism ; Humans ; N-Acetylglucosaminyltransferases ; metabolism ; Neoplasms ; genetics ; metabolism ; Protein Processing, Post-Translational

OBJECTIVETo evaluate the early hematologic, cytogenetic and molecular responses in newly diagnosed patients with chronic myelogenous leukemia in chronic phase（CML-CP）and initially treated with a generic imatinib（Xinwei）, manufactured by Jiansu Hansoh Pharmaceutical Group Co., Ltd.

METHODS107 newly diagnosed patients of CML-CP, whose ages were above 18- year- old and who had never received any tyrosine kinase inhibitor（TKI）were treated with Xinwei 400 mg QD. The hematologic, cytogenetic and molecular responses were assessed at 3- and 6-month, and adverse effects were evaluated throughout the study.

RESULTS107 patients were treated with Xinwei for at least 3 months, 54 of them were treated for 6 months or more. At 3- month, the complete hematologic responses（CHR）rate were 98.1%（105/107）; 47/57（82.5%） patients achieved major cytogenetic response（MCyR）, and 20/57 （35.1%） patients complete cytogenetic response（CCyR）; BCR- ABLIS was ≤10% in 77/106 patients （72.6%）, 11 of them（10.4%）achieved major molecular response（MMR, BCR-ABLIS was ≤0.1%）. At 6-month, the CHR rate was 100%（54/54）; 28/39 patients（71.8%）achieved CCyR; BCR-ABLIS was ≤1% in 37/54 patients （68.5% ）, 18 of them （33.3% ） achieved MMR. The grade Ⅲ leukopenia, thrombocytopenia and anemia rates were 19.5%, 23.0% and 13.8%, respectively. No grade Ⅳ hematologic toxicity occurred. The common non- hematologic toxicities were edema（74.7%）, nausea（48.3%）, bone pain（42.5%）, rash（36.8%）, diarrhea（34.5%）, fever（23.0%）, cramp（11.5%）and impaired liver function （3.4%）. No patient experienced grade Ⅳ non- hematologic toxicity. No adverse effects related death occurred.

CONCLUSIONOur results revealed the excellent early haematology, cytogenetic and molecular responses and safety of Xinwei in treating patients with CML-CP.

Anemia ; Antineoplastic Combined Chemotherapy Protocols ; Cytogenetics ; Drugs, Generic ; Humans ; Imatinib Mesylate ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; Prospective Studies ; Protein Kinase Inhibitors ; Remission Induction ; Thrombocytopenia ; Treatment Outcome

Objective:To evaluate the efficacy and safety of mitoxantrone hydrochloride liposome injection in the treatment of peripheral T-cell lymphoma (PTCL) in a real-world setting.Methods:This was a real-world ambispective cohort study (MOMENT study) (Chinese clinical trial registry number: ChiCTR2200062067). Clinical data were collected from 198 patients who received mitoxantrone hydrochloride liposome injection as monotherapy or combination therapy at 37 hospitals from January 2022 to January 2023, including 166 patients in the retrospective cohort and 32 patients in the prospective cohort; 10 patients in the treatment-na?ve group and 188 patients in the relapsed/refractory group. Clinical characteristics, efficacy and adverse events were summarized, and the overall survival (OS) and progression-free survival (PFS) were analyzed.Results:All 198 patients were treated with mitoxantrone hydrochloride liposome injection for a median of 3 cycles (range 1-7 cycles); 28 cases were treated with mitoxantrone hydrochloride liposome injection as monotherapy, and 170 cases were treated with the combination regimen. Among 188 relapsed/refractory patients, 45 cases (23.9%) were in complete remission (CR), 82 cases (43.6%) were in partial remission (PR), and 28 cases (14.9%) were in disease stabilization (SD), and 33 cases (17.6%) were in disease progression (PD), with an objective remission rate (ORR) of 67.6% (127/188). Among 10 treatment-na?ve patients, 4 cases (40.0%) were in CR, 5 cases (50.0%) were in PR, and 1 case (10.0%) was in PD, with an ORR of 90.0% (9/10). The median follow-up time was 2.9 months (95% CI 2.4-3.7 months), and the median PFS and OS of patients in relapsed/refractory and treatment-na?ve groups were not reached. In relapsed/refractory patients, the difference in ORR between patients with different number of treatment lines of mitoxantrone hydrochloride liposome injection [ORR of the second-line, the third-line and ≥the forth-line treatment was 74.4% (67/90), 73.9% (34/46) and 50.0% (26/52)] was statistically significant ( P = 0.008). Of the 198 PTCL patients, 182 cases (91.9%) experienced at least 1 time of treatment-related adverse events, and the incidence rate of ≥grade 3 adverse events was 66.7% (132/198), which was mainly characterized by hematologic adverse events. The ≥ grade 3 hematologic adverse events mainly included decreased lymphocyte count, decreased neutrophil count, decreased white blood cell count, and anemia; non-hematologic adverse events were mostly grade 1-2, mainly including pigmentation disorders and upper respiratory tract infection. Conclusions:The use of mitoxantrone hydrochloride liposome injection-containing regimen in the treatment of PTCL has definite efficacy and is well tolerated, and it is a new therapeutic option for PTCL patients.