[Objective]To evaluate the efficacy and safety of total oral regimens containing pomalidomide as a second-line treatment strategy in multiple myeloma.[Methods]A total of 22 patients with multiple myeloma placed on total oral regimens containing pomalidomide as a second-line therapy from March 2020 to December 2023 were retrospectively analyzed to evaluate the treatment response,survival and safety.[Results]The median age of the 22 patients was 71.5 years old. The total oral treatment regimens containing pomalidomide included IPD (7 cases),PCD (11 cases),XPD (2 cases),and PD (2 cases). The median number of treatment cycles was 14. Among the 13 patients with prior lenalidomide exposure,ORR was 53.85％,of which 23.08％ was ≥VGPR. In 9 patients without prior lenalidomide exposure,the ORR was 77.78％,and of which 55.56％ was ≥VGPR. There was no significant difference in ORR between these two groups (P=0.38). In 12 patients with high genetic risk,the ORR was 50％,and ≥VGPR was 16.67％. The median follow-up time was 10.6 months. Disease progressed in 10 patients and death occurred in 6 patients of them. The median progression free survival (PFS) was not reached (not reached and 10.6 months in non-lenalidomide-exposure patients or lenalidomide-exposure patients,respectively).The high grade treatment-related adverse events (AEs)(≥3 ) were reported in 18.18％ patients,including granulocytopenia,thrombocytopenia,and pulmonary infection. There was no treatment-related death.[Conclusion]Total oral regimens containing pomalidomide as a second-line therapy is generally effective and safe for multiple myeloma patients.

The current outpatient payment method based on fee-for-service induced serious demand, which increased the waste of medical insurance fund. The authors briefly introduced ambulatory patient groups(APG)with the same concept of diagnosis-related groups. According to the current situation of outpatient medical insurance payment and the degree of informatization in China, suggestions are put forward: launch a pilot project first and starting with chronic disease to promote reform; improve the quality of outpatient electronic medical records, and develop APG suitable for China; under the background of aging, cooperate with the total budget to ensure the security of medical insurance.

Objective To investigate the gene mutations in benign familial infantile epilepsy(BFIE)in Chi-na. Methods Data of all BFIE probands and their family members were collected from Peking University First Hospital and other three hospitals between October 2006 and June 2017. Clinical phenotypes of affected members were analyzed. Genomic DNA was extracted from peripheral blood samples with standard protocol. Mutations in PRRT2 were screened using Sanger sequencing. For families that PRRT2 mutations were not detected by Sanger sequencing,candidate gene mutations were further screened by next - generation sequencing. Results A total of 71 families including 227 affected members were collected. Genetic testing led to the identification of gene mutations in 52 families (52 / 71,73. 2％). Forty - three families had PRRT2 mutations (43 / 71,60. 6％),including 40 families with frameshift mutations(hotspot mutations c. 649_650insC and c. 649delC were detected in 29 families and 6 families,respectively),one family with nonsense mutation,one family with a loss of a stop codon,and one family with a microdeletion of the gene. C. 560_561insT and c. 679C > T were novel PRRT2 mutations. Five families had SCN2A mutations. All SCN2A mutations were missense mutations(c. 668G > A,c. 752T > C,c. 1307T > C,c. 4835C > G,c. 1737C > G). Mutation c. 752T > C, c. 1307T > C,c. 4835C > G,and c. 1737C > G were novel mutations. Three families had KCNQ2 mutations. All KCNQ2 mutations were missense mutations(c. 775G > A,c. 237T > G,c. 1510C > T). Mutation c. 237T > G and c. 1510C > T were novel mutations. One family had a novel GABRA6 mutation c. 523G > T. In 71 BFIE families,16 families had mem-bers who showed paroxysmal kinesigenic dyskinesias(PKD)and subclassified as infantile convulsions with paroxysmal choreoathetosis syndrome(ICCA). Fifteen ICCA families were found having PRRT2 mutations (15 / 16,93. 8％). The remaining ICCA family was not detected with any pathogenic mutation. Conclusion There is high frequency of gene mutations in BFIE families. Mutations in KCNQ2,SCN2A,and PRRT2 are genetic causes of BFIE. PRRT2 is the main gene responsible for BFIE. GABRA6 mutation might be a new cause of BFIE.

[Objective] To explore the risk factors for mortality of bloodstream infections in the patients with hematologic diseases,so as to provide evidence for reasonable and effective application of treatments.[Methods] The clinical data of 242 cases of bloodstream infections who were hospitalized from Jan 2012 to Jun 2016 were analyzed retrospectively,then the analysis was performed for risk factors.The statistical analysis was processed by SPSS 19.0.[Results] A total of 266 strains of pathogens were isolated,including 99 strains of gram-positive bacteria,accounting for 37.2％,and 164 strains of gram-negative bacteria,accounting for 61.7％.Multivariate analysis showed that the significant independent risk factors for mortality were active states of hematologic diseases (P =0.007,OR =5.622,95％ CI 1.586 ～ 19.924),presentation with septic shock(P =0.007,OR =4.978,95％ CI 1.560 ～15.884),cardiac insufficiency (P =0.001,OR =11.878,95％ CI 2.760 ～ 51.120),level of albumin less than 35 g/L (P =0.036,OR =3.468,95％ CI 1.087 ～ 11.066),polymicrobial infection (P =0.010,OR =6.024,95％ CI 1.540 ～ 23.563),and Staphylococcus haemolyticus (P =0.001,OR =19.308,95％ CI 3.392 ～ 109.888)/Enterococcus (P =0.002,OR =15.266,95％ CI 2.817 ～82.728) infection.The survival curves show that the inappropriate initial antimicrobial therapy group or presentation with any one of the independent risk factors had a lower probability of survival than the control group.[Conclusions] Bloodstream infections in patients may cause high mortality rate,so it is necessary that we use antibiotic reasonably and spare no effort to reduce the mortality rate by appropriate application of antimicrobial therapy and effective intervention of the risk factors.

The craniospinal radiotherapy method was studied by using the whole body positioning frame and base dose plan compensation (BDPC) technique.11 patients with central nervous system malignancies in our hospital were studied. Use whole body positioning frame with the head - neck shoulder and body membrane to immobilize posture, then use BDPC for the intensity-modulated radiotherapy. Target area conformability index(CI), homogeneity index (HI), dose of endangerment organ (OAR) and beam connecting dose distribution are evaluated. The use of base-dose-compensation intensity-modulated plan combined with whole-body positioning technology improves the target area conformability and target uniformity, simplifies the design of craniospinal radiotherapy, improves the placement accuracy and ensure good placement repeatability. We measure beam connecting dose distribution. Cold and hot spots do not appear, and calculated values are basically identical. The application of whole-body positioning technique combined with BDPC optimization method in the treatment of the craniospinal radiotherapy meets the clinical requirements of dosimetry. Moreover, it is simple and can improve the treatment planning efficiency.

Objective:To explore the dynamic variation of serum neuron‐specific enolase (NSE) and its clinical significance in patients with acute organophosphate poisoning .Methods:Ninety patients with acute organophosphate poisoning were enrolled into case group ,and other 90 healthy subjects were enrolled as control group .Venous blood samples of 3 .0 mL were collected from the all 180 subjects at admission .Apart from the 8 patients died on day 1 ,the other 172 subjects underwent collection of 3 .0 mL venous blood samples on day 2 ,day 3 ,day 5 ,day 7 .Serum NSE concentration was measured by enzyme‐linked immu‐nosorbent assay ,while cholinesterase(ChE) was determined by photoelectric colorimetry .Results:Eight patients in case group died on admission day ,of whom the average concentration of NSE and ChE were (131 .72 ± 10 .84) ng/mL ,(199 ± 228) U/L , respectively .Concentration of NSE of the rest 82 patients on day 1 ,day 2 ,day 3 were (54 .56 ± 5 .46) ng/mL ,(36 .18 ± 5 .27) ng/mL ,(20 .56 ± 4 .64) ng/mL ,respectively ,and concentration of the control group on the corresponding time points were (9 .72 ± 3 .92) ng/mL ,(9 .48 ± 3 .66 )ng/mL ,(9 .86 ± 3 .62)ng/mL ,respectively .Statistically significant differences were de‐tected between two groups(P< 0 .01) .Average concentration of ChE of the rest 82 patients on day 1 ,day 2 ,day 3 were (1628 .60 ± 112) U/L、(2113 .59 ± 324) U/L、(2474 .75 ± 711) U/L ,respectively ,and those in the control group on the corre‐sponding time points were (5982 ± 215) U/L ,(5651 ± 136) U/L ,(5783 ± 764)U/L ,respectively .Statistically significant differences were detected between two groups(P<0 .01) .The concentrations of NSE were in significantly negative correlation with that of ChE in mild ,middle and severe poisoning patients on day 1 ,day 2 ,day 3 ,and in positive correlation with the poi‐soning severity .The correlation coefficients rs>0 .05 ,P<0 .05 .Conclusions:Serum NSE may be used as an reference indica‐tor in the diagnosis and treatment of acute organophosphate poisoning .

Cerebellopontine Angle ; anatomy & histology ; Ear, Inner ; anatomy & histology ; Humans ; Microsurgery ; Neuroma, Acoustic ; surgery

OBJECTIVETo analyze the phenotypes and proline-rich transmenbrane protein 2 (PRRT2) gene mutations in patients of infantile convulsions with paroxysmal choreoathetosis (ICCA).

METHODSClinical data were collected from ICCA patients and their family members. Genomic DNA was extracted from peripheral blood samples with standard protocol. Mutations of PRRT2 were screened using PCR amplification and Sanger sequencing.

RESULTSEleven families and one sporadic case with ICCA were recruited in this study. In 11 ICCA families, 49 family members were affected, of which 15 individuals had benign infantile convulsions (BIC) alone, 18 individuals had only paroxysmal kinesigenic dyskinesia(PKD), and 16 individuals had BIC followed by PKD. The seizure onset age of infantile convulsions was between 3 and 12 months. The onset age of PKD was ranging from 5 to 17 years old. Four affected members in two ICCA families had PKD or ICCA co-existing with migraine. The one sporadic ICCA case had afebrile seizures between 3.5 and 4 months, and developed paroxysmal twists of limbs after 3 years and 9 months of age. He had good response to treatment with oxcarbazepine at the age of 4 years and 10 months. PRRT2 mutations were identified in all 11 ICCA families. The most common mutation, c.649_650insC (p.R217PfsX8), was detected in 6 of the 11 families (54.5%). PRRT2 mutation (c.649_650insC) was also found in the sporadic ICCA case, and was identified as de novo mutation.

CONCLUSIONThe phenotype of PKD in ICCA families occurred in childhood or adolescence. Few affected members in some ICCA families may have migraine. PRRT2 is the causative gene of ICCA and the mutation c.649_650insC was the hotspot of PRRT2 mutations. PRRT2 mutation was also found in sporadic case with ICCA.

Adolescent ; Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Base Sequence ; Child ; Child, Preschool ; Dyskinesias ; genetics ; Epilepsy, Benign Neonatal ; genetics ; Female ; Humans ; Infant ; Male ; Membrane Proteins ; genetics ; Middle Aged ; Molecular Sequence Data ; Nerve Tissue Proteins ; genetics ; Pedigree ; Phenotype ; Point Mutation ; Seizures ; genetics ; Young Adult

OBJECTIVETo study the phenotypes and proline-rich transmembrane protein 2 (PRRT2) mutations in families with benign familial infantile epilepsy (BFIE).

METHODData of all BFIE probands and their family members were collected from Peking University First Hospital between September 2006 and August 2013. Clinical phenotypes of affected members were analyzed. Genomic DNA was extracted from peripheral blood samples with standard protocol. Mutations in PRRT2 were screened using PCR amplification and Sanger sequencing.

RESULTTwenty-nine BFIE families were recruited in this study. In total, 110 family members were affected. The age of seizure onset of these affected members was between 2 and 12 months (median: 4.5 months). All probands presented with clusters of seizures. Two probands had one seizure induced by diarrhea respectively at 25 months and 31 months. In four BFIE families, four family members had a history of febrile seizures. PRRT2 mutations were found in 17 of the 29 (58.6%) BFIE families. Mutation c.649_650insC was detected in 12 of the 17 families with PRRT2 mutations. Mutation c.649delC (p.R217EfsX12) was identified in three families. Mutation c.323_324delCA (p. T108SfsX25) and c.904_ 905insG (p. D302GfsX39) were detected in one family, respectively.

CONCLUSIONThe minimum seizure onset age of affected members in BFIE families was 2 months of age. The seizures often occur in clusters. PRRT2 is the major causative gene of BFIE in Chinese families. Mutation c.649_650insC is the hotspot mutation of PRRT2. A novel mutation c.323_324delCA was first reported in BFIE family. Few affected members with PRRT2 mutation presented with febrile seizures phenotype.

Age of Onset ; Asian Continental Ancestry Group ; genetics ; DNA Mutational Analysis ; Epilepsy, Benign Neonatal ; genetics ; Humans ; Infant ; Membrane Proteins ; genetics ; Mutation ; genetics ; Nerve Tissue Proteins ; genetics ; Phenotype ; Seizures ; Seizures, Febrile

Cerebellopontine Angle ; anatomy & histology ; Ear, Inner ; anatomy & histology ; Humans ; Microsurgery ; Neuroma, Acoustic ; surgery