Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and highly aggressive hematological malignancy, there is no standard treatment and the prognosis is very poor. Affiliated Zhongshan Hospital of Dalian University report a case of 85-year-old BPDCN male patient treated with DVT regimen (decitabine combined with Venetoclax and thalidomide) and achieved complete remission. The patient with skin nodules and the pathology diagnosed BPDCN, the next generation sequencing of skin nodules showed mutations of IDH2 and ASXL1. DVT (decitabine combined with Venetoclax and thalidomide) has significant efficacy with rapid and deep remission for BPDCN, and the adverse effects is less, especially suitable for elderly patients who cannot tolerate intense chemotherapy.

Objective:To investigate the clinical features, efficacy and risk factors for the development of anemia in newly-diagnosed multiple myeloma (NDMM) patients with anemia.Methods:A retrospective case-control study was conducted. General data and laboratory findings of 165 NDMM patients hospitalized at the People's Hospital of Qiannan in Guizhou Province and Affiliated Zhongshan Hospital of Dalian University from January 2018 to December 2022 were retrospectively analyzed. The patients were treated with chemotherapy regimens based on at least 2 new drugs including proteasome inhibitors and immunomodulators, and the efficacy was assessed after 4 cycles of treatment. According to peripheral blood hemoglobin (Hb) concentration, patients were divided into anemia group (Hb < 100 g/L) and non-anemia group (Hb ≥ 100 g/L). The general data, hematological indexes, and treatment effects of the two groups were compared. Pearson correlation coefficient was used to analyze the correlation between Hb and hematological indexes; multivariate logistic regression was used to analyze the risk factors for the occurrence of anemia in patients with NDMM; anemia defined by Hb was used as the gold standard, and receiver operating characteristic (ROC) curve was used to analyze the effect of the above risk factors for anemia on judging the occurrence of anemia in MM patients.Results:There were 120 cases in the anemia group with a median age [ M ( Q1, Q3)] of 64 years old (59 years old,74 years old), including 61 (50.8%) males and 59 (49.2%) females, and 45 cases in the non-anemia group with a median age of 61 years old (54 years old, 68 years old), including 27 (60.0%) males and 18 (40.0%) females. The age of patients and the proportion of patients with Durie-Salmon (DS) stage Ⅲ, international staging system (ISS) stage Ⅲ, renal impairment, and hypercalcemia in the anemia group were higher than those in the non-anemia group (all P < 0.05); peripheral blood platelet counts and serum albumin concentrations in the anemia group were lower than those in the non-anemia group, and the differences were statistically significant (all P < 0.05); the concentrations of globulin, the erythrocyte sedimentation rate (ESR) and serum β 2-microglobulin (β 2-MG) concentration, creatinine concentration, uric acid concentration, serum corrected calcium concentration, and the proportion of abnormal plasma cells in bone marrow in the anemia group were higher than those in the non-anemic group, and the differences were statistically significant (all P < 0.05). The objective remission rate in the anemia group was lower than that in the non-anemia group [42.5% (51/120) vs. 71.1% (32/45), χ2 = 10.72, P = 0.001]. Pearson correlation coefficient showed that Hb concentration was positively correlated with serum albumin concentration and platelet count ( r values were 0.569 and 0.229, both P < 0.05), and it was negatively correlated with ESR, globulin, β 2-MG, creatinine, uric acid, serum corrected calcium concentration and the proportion of abnormal plasma cells in bone marrow ( r values were -0.318, -0.465, -0.373, -0.230, -0.303, -0.248, and -0.368, all P < 0.05). Multivariate logistic regression analysis showed that the increased serum albumin concentration was the independent protective factor for the occurrence of anemia in patients with NDMM ( OR = 0.891, 95% CI: 0.798-0.994, P = 0.039), and the increased proportion of abnormal plasma cells in bone marrow was the independent risk factor for the occurrence of anemia in patients with NDMM ( OR = 0.941, 95% CI: 0.908-0.974, P = 0.001). ROC curve analysis showed that the areas under the curve for the occurrence of anemia in NDMM patients based on serum albumin concentration and the proportion of abnormal plasma cells in bone marrow were 0.813 (95% CI: 0.743-0.882, P < 0.001) and 0.792 (95% CI: 0.715-0.870, P < 0.001). Conclusions:Compared with NDMM patients without anemia, NDMM patients with anemia have abnormalities in several tests and poor treatment outcomes, and these patients should be actively corrected for anemia and hypovitaminosis, and clear plasma cell load as early as possible in conjunction with antimyeloma therapy.

Objective:To investigate the clinical features and family gene mutation results of the adult onset Gaucher disease patient.Methods:The diagnosis and treatment of a patient with Gaucher disease who was admitted to the Affiliated Zhongshan Hospital of Dalian University in March 2020 were retrospectively analyzed, and the literature was reviewed.Results:The patient (the proband) was a 34-year-old female, the anemia, thrombocytopenia and splenomegalia were found in 2005. After regular physical examination, the decrease of leukocyte, red blood cell and platelet was gradually aggravated, and the progressive enlargement of the spleen was aggravated. She visited the clinic on March 19, 2020 due to worsening of fatigue. The physical examination revealed hepatomegaly, splenomegaly; blood routine examination showed pancytopenia, and bone marrow morphology showed a large number of Gaucher cells. Peripheral blood β- glucocerebrosidase (GBA) of the proband was 1.8 nmol·mg -1·h -1 (reference value 10-25 nmol·mg -1·h -1), and the GBA of her father, mother, brother, and daughter was normal. The second-generation sequencing results showed that the proband had a mutation in the BCL2 gene at locus c.127G>A p.A43T, with a mutation frequency of 49.53%. GBA gene testing showed that the proband had a heterozygous mutation at c.1448T>C (a pathogenic mutation), heterozygous mutations at c.1026A>G and c.1038C>T (homozygous mutations), and a heterozygous mutation at c.1075G>T (mutation of unknown clinical significance). The proband's father had c.1448T>C heterozygous mutation, and he was a carrier; the proband's mother had c.1075G>T heterozygous mutation; the proband's brother had no gene mutation; the proband's daughter had c.1448T>C heterozygous mutation, and she was a carrier. The diagnosis was type Ⅰ Gaucher disease (non-neuropathic). The patient was proposed to participate in the clinical trial of imiglucerase, and during the follow-up, the blood routine was relatively stable, and the spleen remained progressively enlarged. Conclusions:Gaucher disease is rare, which is easy to be misdiagnosed and underdiagnosed. It is necessary to be alert to the possibility of Gaucher disease when there are patients with unexplained hemocytopenia, liver and spleen enlargement and multiple organs involvement, and enzyme and genetic tests should be performed as soon as possible.

This article reported a rare case of congenital median cleft of upper lip and palate. A 9-month-old male child was admitted to the Department of Plastic Surgery, Tianjin Children’s Hospital in October 2021. The examination showed that the child’s upper lip was completely split from the red lip to the nose. The nasal alar collapsed and the nasal columella nasal septum was dysplasia and short retraction. Maxillary defects were seen in the oral cavity, and a wide palatal cleft was seen. The patient received surgical treatment to reconstruct the nasal cavity and upper lip. The patient was followed up for one month after operation and recovered well.

This article reported a rare case of congenital median cleft of upper lip and palate. A 9-month-old male child was admitted to the Department of Plastic Surgery, Tianjin Children’s Hospital in October 2021. The examination showed that the child’s upper lip was completely split from the red lip to the nose. The nasal alar collapsed and the nasal columella nasal septum was dysplasia and short retraction. Maxillary defects were seen in the oral cavity, and a wide palatal cleft was seen. The patient received surgical treatment to reconstruct the nasal cavity and upper lip. The patient was followed up for one month after operation and recovered well.

Objective:To assess the role of arterial spin labeling (ASL) in detecting the blood-brain barrier (BBB) permeability of cerebral infarction lesions in patients with anterior circulation subacute ischemic stroke (SIS), and to evaluate the value of ASL in predicting hemorrhagic transformation (HT) of SIS patients after endovascular recanalization.Methods:A prospective analysis was performed. Patients with anterior circulation SIS who received endovascular treatment (EVT) in our hospital from January 2021 to September 2021 were enrolled. At 24 h before EVT and immediately after EVT, MRI scans of ASL sequences and dynamic contrast-enhanced magnetic resonance (DCE) sequence were completed, and Xper CT was performed; accordingly, imaging typing was performed. Head CT scan was performed 24-48 h after EVT to observe HT; according to the presence or absence of HT, these patients were divided into HT group and non-HT group; the relative cerebral blood flow (rCBF) values of ASL sequence parameters, volume transfer constant (K trans) of DCE sequence parameters and the differences of ASL, DCE and Xper CT imaging types between the two groups were compared. The weighted Kappa coefficient was used to test the consistency among ASL, DCE and Xper CT imaging types. Results:Among 22 eligible patients, 5 patients occurred HT (5/22, 22.72%). As compared with those in the non-HT group (1.14±0.04; 0.032[0.024, 0.039]/min), patients in the HT group had significantly higher rCBF value (1.57±0.18) and K trans (0.072[0.0455, 0.117]/min, P<0.05). There were significant differences in the distribution of ASL, DCE and Xper CT imaging types between the two groups ( P<0.05); among them, 4 out of 6 patients with ASL imaging type III, 4 out of 6 patients with DCE imaging type III, and 4 out of 5 patients with Xper CT imaging type III had HT. ASL sequence and DCE sequence had a high consistency in the imaging types (Kappa coefficient=0.941, 95%CI: 0.862-1.020, P<0.001). Conclusion:ASL can effectively evaluate the BBB permeability of cerebral infarction lesions in patients with anterior circulation SIS; patients with ASL imaging type III have a relatively high risk of HT.

Objective:To assess the role of arterial spin labeling (ASL) in detecting the blood-brain barrier (BBB) permeability of cerebral infarction lesions in patients with anterior circulation subacute ischemic stroke (SIS), and to evaluate the value of ASL in predicting hemorrhagic transformation (HT) of SIS patients after endovascular recanalization.Methods:A prospective analysis was performed. Patients with anterior circulation SIS who received endovascular treatment (EVT) in our hospital from January 2021 to September 2021 were enrolled. At 24 h before EVT and immediately after EVT, MRI scans of ASL sequences and dynamic contrast-enhanced magnetic resonance (DCE) sequence were completed, and Xper CT was performed; accordingly, imaging typing was performed. Head CT scan was performed 24-48 h after EVT to observe HT; according to the presence or absence of HT, these patients were divided into HT group and non-HT group; the relative cerebral blood flow (rCBF) values of ASL sequence parameters, volume transfer constant (K trans) of DCE sequence parameters and the differences of ASL, DCE and Xper CT imaging types between the two groups were compared. The weighted Kappa coefficient was used to test the consistency among ASL, DCE and Xper CT imaging types. Results:Among 22 eligible patients, 5 patients occurred HT (5/22, 22.72%). As compared with those in the non-HT group (1.14±0.04; 0.032[0.024, 0.039]/min), patients in the HT group had significantly higher rCBF value (1.57±0.18) and K trans (0.072[0.0455, 0.117]/min, P<0.05). There were significant differences in the distribution of ASL, DCE and Xper CT imaging types between the two groups ( P<0.05); among them, 4 out of 6 patients with ASL imaging type III, 4 out of 6 patients with DCE imaging type III, and 4 out of 5 patients with Xper CT imaging type III had HT. ASL sequence and DCE sequence had a high consistency in the imaging types (Kappa coefficient=0.941, 95%CI: 0.862-1.020, P<0.001). Conclusion:ASL can effectively evaluate the BBB permeability of cerebral infarction lesions in patients with anterior circulation SIS; patients with ASL imaging type III have a relatively high risk of HT.

We here report the diagnosis and treatment of tricho-hepato-enteric syndrome in a female neonate. The 11-day-old patient, born at a gestational age of 38 weeks and with a birth weight of 1 700 g, was admitted to the Affiliated Hospital of Jining Medical University in January 2019 due to "skin stained yellow for 6 d". She presented with yellow, thin, and sparse hair that was easy to fall off, intractable diarrhea, repeated fever, and slow weight gain, further complicated by congenital heart disease. After 25-days of treatment, the child's infection was under control, but still had diarrhea. The baby girl was discharge later on request of her parents, but readmitted at the age of 3 months due to pulmonary infection. Delayed development, malnutrition, prominent forehead, wide eye distance, low nasal bridge, hepatomegaly, and intractable diarrhea were also observed. Whole exome sequencing identified a homozygous mutation of c.2344delC(p.His782fs) in SKIV2L gene in the baby, and both her parents were heterozygous carriers of the mutation at this site. She was diagnosed with SKIV2L gene mutation-induced tricho-hepato-enteric syndrome. The patient suffered from sustained diarrhea and recurrent infection and died of infection at 4 months of age after her parents' decision to withdraw treatment.

Objective: To explore the effects and molecular mechanism of the selective JAK1inhibitor SHR0302 and Ruxolitinib on myeloproliterative neoplasms (MPN) cell line SET2 and primary cells in vitro. Methods: Cell proliferation was detected by CCK8 kit. Colony forming experiment was conducted to evaluate erythroid burst colony formation unit (BFU-E) of primary cells from MPN patients. Multi-factor kits were used to detect six inflammatory cytokines. Phosphorylated proteins of Jak-Stat signaling pathway were tested by Western blot. Results: At different time points after treated with SHR0302 and Ruxolitinib, the inhibition of cell proliferation was dose dependent by both drugs (P<0.01) . The inhibitory rates of 2.5 μmol/L SHR0302 and 0.1 μmol/L Ruxolitinib on SET2 cells for 72 h were comparable, i.e. (59.94±0.60) % and (64.00±0.66) %, respectively, suggesting that the inhibitory effect of SHR0302 was weaker than that of Ruxolitinib. Similarly, both SHR0302 and Ruxolitinib inhibited BFU-E in primary marrow cells from MPN patients in a dose-dependent manner. SHR0302 1.0 μmol/L produced similar degree of inhibition compared to Ruxolitinib 0.2 μmol/L. Except IL-12, the expression of other 5 cytokines (IL-6, TNF-α, IL-1β, IL-2, IL-8) was significantly inhibited by 1.6 μmol/L SHR0302 in SET2 cells at 24 h (P<0.01) , while Ruxolitinib 1.0 μmol/L had the same effect. Several phosphorylated molecules of Jak-Stat signaling pathway were significantly inhibited by SHR0302 in SET2 cells only for 3 h. P-stat1 (Tyr701) , p-stat3 (Tyr705) were down-regulated when treated with SHR0302 1.0 μmol/L (P<0.05) , p-jak1 (tyr1022/1023) and p-stat5 (Tyr694) were inhibited at 5.0 μmol/L (P<0.05) . Ruxolitinib significantly inhibited the downstream STAT protein at 0.1 μmol/L. Again, the inhibitory effect of SHR0302 on protein expression was weaker than that of Ruxolitinib. Conclusion SHR0302 can effectively inhibit the proliferation of MPN cell line and patients' primary cells, as well as the expression of inflammatory factors. The molecular mechanism is possibly related to the down-regulation of phosphorylated proteins of Jak-Stat signaling pathway. Overall, the anti-proliferative and anti-inflammatory effects of SHR0302 are weaker than those of Ruxolitinib.

Majority of type 2 diabetes mellitus (T2DM) patients are highly susceptible to several forms of cognitive impairments, particularly dementia. However, the underlying neural mechanism of these cognitive impairments remains unclear. We aimed to investigate the correlation between whole brain resting state functional connections (RSFCs) and the cognitive status in 95 patients with T2DM. We constructed an elastic net model to estimate the Montreal Cognitive Assessment (MoCA) scores, which served as an index of the cognitive status of the patients, and to select the RSFCs for further prediction. Subsequently, we utilized a machine learning technique to evaluate the discriminative ability of the connectivity pattern associated with the selected RSFCs. The estimated and chronological MoCA scores were significantly correlated with R= 0.81 and the mean absolute error (MAE) =1.20. Additionally, cognitive impairments of patients with T2DM can be identified using the RSFC pattern with classification accuracy of 90.54％ and the area under the receiver operating characteristic (ROC) curve (AUC) of 0.9737. This connectivity pattern not only included the connections between regions within the default mode network (DMN), but also the functional connectivity between the task-positive networks and the DMN, as well as those within the task-positive networks. The results suggest that an RSFC pattern could be regarded as a potential biomarker to identify the cognitive status of patients with T2DM.