Objective To study the clinical,pathological and genetic features of myofibrillar myopathy caused by BAG3 gene mutation.Methods The clinical features and pathological findings of a patient with myofibrillar myopathy were analyzed.Genomic DNA of the patient was extracted from peripheral blood and the next generation sequencing was performed to explore the mutation of genes about myopathies.Results The patient presented with nine-year-old onset myopathy characterized by progressive difficulty for squatting,rigid spine and muscle atrophy in the limbs symmetrically.Peripheral neurogenic damages were found on electromyography.On muscle biopsy,myogenic and neurogenic damages with rimmed vacuoles appeared,and the deposited materials were positive for sarcoglycan,dystrophin-R and dystrophin-C.There was a reported heterozygous mutation in the exons of the BAG3 gene (c.626C ＞ T).Conclusion There is no specificity of clinical manifestation in myofibrillar myopathy,and the diagnosis of this disease mainly depends on muscle biopsy and genetic screening.

Abstract] Objective To investigate the in vivo therapeutic effects of an extract of herb medi-cines, YiGanQingDuKeLi, in combination with adefovir dipivoxil (ADV) on the rebound of duck hepatitis B virus ( DHBV) multiplication after withdrawal of ADV treatment.Methods Peking ducks were infected with DHBV positive serum samples for 7 days and then screened by SYBR Green real-time PCR.The ducks positive for DHBV were randomly divided into five groups including the model control group, the ADV treat-ment group, the herb treatment group, the high-dose combination therapy group and the low-dose combina-tion therapy group.The ducks in the ADV treatment and the herb treatment groups were respectively treated with distilled water and YiGanQingDuKeLi (1.2 g/ml) for 14 days after the treatment of ADV (0.25 mg/ml) for 21 days.The ducks in the high-dose group were treated with YiGanQingDuKeLi (1.2 g/ml) for 14 days after the combined treatment with high-dose YiGanQingDuKeLi (1.2 g/ml) and ADV (0.25 mg/ml) for 21 days.The ducks in the low-dose group were treated with YiGanQingDuKeLi (0.6 g/ml) for 14 days after the combined treatment with YiGanQingDuKeLi (0.6 g/ml) and ADV (0.125 mg/ml) for 21 days.Blood samples were collected from each duck via leg vein after 0, 7, 14 and 21 days of drug adminis-tration and after 7 and 14 days of drug withdrawal.The levels of DHBV-DNA, alanine aminotransferase ( ALT) and aspartate aminotransferase ( AST) in blood serum samples were detected.Results Compared with the model group, the levels of DHBV-DNA, ALT and AST in ducks from the herb treatment group and combined treatment groups were decreased before the discontinuation of ADV treatment ( P<0.05 or P<0.01).Moreover, the titers of DHBV-DNA in ducks treated with high doses of drugs were much lower than those from ADV treatment group.The levels of DHBV-DNA, ALT and AST in ducks treated with herb medi-cine and high doses of drugs remained at relatively low levels after the cessation of ADV treatment, but re-bounded significantly in ducks with ADV treatment.The levels of DHBV-DNA and ALT rebounded slightly in ducks treated with low doses of drugs as compared with those of ADV treatment group ( P<0.01 or P<0.05).Conclusion The treatment of YiGanQingDuKeLi in combination with ADV could inhibit not only the in vivo replication of DHBV, but also the rebound of DHBV multiplication after ADV withdrawal.

Objective:To investigate the clinical efficacy and safety of bendamustine combination regimen in the treatment of patients with relapsed or refractory multiple myeloma (RRMM).Methods:From March 2020 to December 2020, 16 patients with RRMM were treated with bendamustine combination regimen in Beijing Jishuitan Hospital. The efficacy and adverse events (AEs) of bendamustine combination regimen were retrospectively analyzed in the 16 patients.Results:The median treatment lines for 16 patients with RRMM who received bendamustine combination regimen was 4 lines, and the median course of treatment was 3 (1-8). The median follow-up time after bendamustine treatment started was 5.3(1.3-9.2)months. Among the 16 cases, the disease control rate (DCR), overall response rate(ORR), and ≥ very good partial remission (VGPR) rate were 13/16, 5/16, 4/16 respectively. The median PFS was 4.9 months. Among them, the ORR of bendamustine combined with immunomodulators was higher. AEs were anemia, leukopenia, neutropenia, thrombocytopenia and fatigue. No patients who stopped treatment and adjusted the dose due to AEs.Conclusions:Bendamustine combination regimen is an effective and safe regimen for relapsed/refractory multiple myeloma.

Objective To analyze the clinical, electrophysiological,pathological and genetic features of patients with acetylcholinesterase-associated collagen-like tail subunit gene (COLQ)-related congenital myasthenic syndrome(CMS), and provide references for improving the clinical diagnosis and treatments of this disease. Methods Two patients with CMS, admitted to our hospital in October 2017 and February 2018, were chosen in our study. The clinical data, including clinical history, laboratory examination, and electrophysiological and pathological characteristics, were collected. Next-generation gene sequencing and pedigree validation were performed on the patients to detect the CMS-related genes. Results (1) Patient one was a 10 year-old boy complaining of poor exercise capacity from birth, and he presented with abnormal gait, which developed slowly; patient two was a 30 year-old female whose manifestations were myasthenia of limbs and dyspnea when she was 22. (2) The laboratory examinations showed that muscle enzymes, neostigmine test, and antibodies against myasthenia gravis were normal;electrophysiological examination indicated slight myogenic damage, with decreased response of the low-frequency repetitive nerve stimulation; muscle biopsy showed scattered muscle fiber atrophy. Gene analysis revealed missense mutations in COLQ of two patients;patient one was a compound heterozygous mutations (c.1274T>Cand c.869G>A), and patient two was a homozygous mutation (c.1228C>T); both were missense mutations. Conclusions COLQ-related CMS patients have clinical heterogeneity, with negative blood tests, decrement of low-frequency repetitive nerve stimulation, and scattered muscle fiber atrophy of muscle biopsy. Next-generation gene sequencing can make a definite diagnosis.

Objective:To evaluate the therapeutic effect of hemopurification on acute chlorfenapyr poisoning according to the blood concentration of chlorfenapyr and to provide experience for clinical treatment.Methods:Two patients who presented to our Emergency Department following an ingestion of chlorfenapyr and then were treated with hemopurification in 2022 were included. The concentrations of chlorfenapyr and its highly toxic metabolite tralopyril were dynamically monitored, and the clinical data of the patients were collected.Results:Case 1 was given hemoperfusion for the first time 13 hours after ingestion. During l hour hemoperfusion, the tralopyril decreased by 28.82%. The concentration increased and exceeded the pre-perfusion level after 2 hours of hemoperfusion. After three times of hemoperfusion, the concentrations of chlorfenapyr and tralopyril were still higher than those before the first time, reaching 248 ng/mL and 1 307 ng/mL respectively. The concentration of chlorfenapyr showed a downward trend after 130 h, and the tralopyril in blood reached the peak 3 164 ng/mL at 130 h and decreased to 2 707 ng/mL at 178 h. In case 2, the blood chlorfenapyr and tralopyril concentration was 392 ng/mL and 7 598 ng/mL respectively 150 hours after ingestion. The blood chlorfenapyr concentration decreased by 37.75% respectively after first hemoperfusion, and the tralopyril concentration decreased by 38.02% respectively. During 85 hours of continuous veno-venous hemodiafiltration (CVVHDF), the concentration of tralopyril was maintained at 4 234~6 410 ng/mL. Case 1 was followed up to 12 days and lost follow-up. Case 2 died and the survival time was 247 hours.Conclusions:Hemoperfusion can scavenge tralopyril, but CVVHDF has poor scavenging ability for tralopyril. And the apparent volume of distribution (Vd) of chlorfenapyr and tralopyril are large. After ingestion, chlorfenapyr spreads to various tissues quickly, and it is easy to accumulate in the adipose tissue. The chlorfenapyr in the tissue slowly is released back to the blood and stays in the blood for a long time. The peak concentration of chlorfenapyr appeared earlier than that of tralopyril. Clinicians should pay attention to the early removal of toxins from the digestive tract.

Objective:To describe the current situation of gastric lavage operation and put forward measures for improvement by analyzing the clinical characteristics of 294 patients with gastric lavage in Poisoning Treatment Center of The First Affiliated Hospital of Nanjing Medical University.Methods:The clinical data of 294 patients with acute poisoning and gastric lavage from 2019 to 2021 were collected and analyzed retrospectively, and the related parameters (poison type, gastric lavage volume, poisoning to gastric lavage time, etc.) of each year were compared.Results:A total of 653 poisoning patients underwent gastric lavage from 2019 to 2021, with an average age of (44.2 ±20.1) years, and 134 (45.6%) were male. The main causes of gastric lavage were pesticide poisoning (52.72%) and drug poisoning (42.86%). The volume of gastric lavage was less than 10 L for 43.8% of patients and 10-20 L for 32.7% of patients. Patients with gastric lavage within 60 min after ingestion of poison accounted for 45.3%, followed by 25.8% within 61-120 min. The in-hospital mortality rate was 17.7%. The common complications of gastric lavage were: the incidence of gastrointestinal bleeding (55/121, 45.5%), the incidence of aspiration pneumonia (54/140, 38.6%), and the incidences of electrolyte disorder (21% of low potassium, 29% low calcium, and 10.0% low sodium). Compared with the groups in different years, the proportion of gastric lavage in poisoning was 58.85% vs. 46.60% vs. 32.41%, which decreased year by year, with statistical difference ( P <0.05). And there was no difference in the period from ingestion to gastric lavage and gastric lavage fluid volume. There was an increasing trend in poison types between diquat and other insecticides, but there was no statistical difference. Conclusions:From 2019 to 2021, the most common causes of acute gastric lavage were pesticide poisoning and drug poisoning, and the proportion of diquat and other pesticides showed an overall upward trend. A majority of the patients (71.1%) had gastric lavage within 2 h, and 76.5% of the patients had less than 20 L gastric lavage fluid. In the future, we will further control the amount of gastric lavage fluid and pay attention to the gastric lavage operation of new insecticide poisoning.

Objective:To analyze the radiographic improvements after Halo-gravity traction in severe kyphoscoliosis patientswith type III spinal cord on preoperative apex MRI, and to assess the clinical outcomes and surgical safety of Halo-gravity traction in this cohort.Methods:A total of 47 severe thoracic kyphoscoliosis patients with type III spinal cord on preoperative apex MRI who underwent preoperative Halo-gravity traction followed by one-stage posterior spinal fusion from February 2019 to June 2021 in the Nanjing Drum Tower Hospital were retrospectively analyzed. There were 18 males and 29 females with an average age of 22.5±12.8 years (range, 9-60 years). The average duration of traction was 7.4±3.9 weeks (range, 4-16 weeks). Radiographic parameters were measured including the coronal Cobb angle, distance between C 7 plumb line and center sacral vertical line (C 7PL-CSVL), sagittalglobal kyphosis (GK) and sagittal vertical axis (SVA) atpre-traction, post-traction and post-operation, respectively. The traction correction rate was measured as "traction degree before traction-traction degree after traction)/traction degree before traction" and the surgical correction rate was represented as "traction degree before traction-postoperative degree)/ traction degree before traction". The Frankel scoring system was used for the evaluation of neurological status at pre-traction, post-traction and post-operation. Results:All of 47 patients underwent the Halo-gravity traction and posterior spinal correction surgery. The C 7PL-CSVL was 35.7±16.9 mm at initial visit. At post-operation, C 7PL-CSVL was improved to 22.0±13.7 mm ( t=13.75, P<0.001), and the improvement rate was 39.9%±15.5%. The GK was 110.9°±22.1° at initial visit, which was improved to 84.1°±19.9° ( t=8.84, P<0.001) after Halo-gravity traction with an average correction of 23.7%±8.9%. At post-operation, GK was improved to 65.3°±19.3° ( t=10.63, P<0.001), and the improvement rate were 40.1%±20.7%. The SVA was 43.8±19.5 mm at initial visit. At post-operation, SVA was improved to 21.1±14.9 mm ( t=10.32, P<0.001), and the improvement rate were 53.1%±27.0%. A total of 14 patients showed neurological deficits of lower limbs at pre-traction, of which 8 patients had significant neurological improvement after Halo gravity traction; 3 patients had significant neurological improvement after surgery, and the remaining 3 patients had no significant neurological improvement during treatment. No new neurological deficits were observed after Halo-gravity traction or surgery. Conclusion:For severe kyphoscoliosis patients with type III spinal cord on preoperative apex MRI, the Halo-gravity traction could effectively correct the deformity, improve neurological function, enhance the tolerance of spinal cord to surgery and reduce the risk of intraoperative iatrogenic neurological deficit.

Objective:To investigate the clinical efficacy and safety of ixazomib-based therapy in patients with relapsed or refractory multiple myeloma (RRMM) .Methods:A retrospective analysis was performed on the efficacy and adverse reactions of 53 RRMM patients treated with a combined regimen containing ixazomib in the Hematology Department of Beijing Jishuitan Hospital from July 8, 2018 to November 30, 2020. Among them, 6 patients received ID regimen (ixazomib + dexamethasone) , 30 patients received ID regimen + immunomodulator, and 17 patients received ID regimen + other chemotherapy drugs.Results:Fifty-three patients with RRMM received ixazomib-based therapy. The median previous treatment line was 3, the median treatment course was 6 (2-30) , and the median follow-up time was 21 months (2-32 months) . The overall response rate (ORR) was 54.7% (29/53) after 2 courses of treatment. Among them, 26.4% (14/53) had very good partial response (VGPR) and 28.3% (15/53) had partial response (PR) . The ORR of the ID regimen group, ID regimen + immunomodulator group and ID regimen + other chemotherapy group were 83.3% (5/6) , 56.7% (17/30) and 41.2% (7/17) respectively, with no statistically significant difference among the three groups ( P=0.208) . The median time to progression (TTP) of 53 patients was 8 months (1-24 months) . The most frequent adverse events of ixazomib treatment were gastrointestinal reactions such as nausea, vomit and diarrhea, with an incidence of 37.7% (20/53) , and the incidence of grade 3-4 was 5.7% (3/53) . The most common hematological adverse events were thrombocytopenia (15.1%, 8/53) , neutropenia (11.3%, 6/53) and anemia (9.4%, 5/53) . Grade 1-2 peripheral neurotoxicity occurred in only 7.5% (4/53) of patients. Conclusion:Ixazomib has good efficacy and safety for the patients with RRMM in the real world.

Cervical cancer is the fourth most common malignant tumor in women worldwide, cervical cancer is also the only malignant tumor that is considered to be a known cause in human tumors, however, there is no significant decline in cervical cancer morbidity and mortality. It is estimated that there were about 570, 000 new cases of cervical cancer in the world in 2018, accounting for 3.15% of all cancer cases; and there were about 310, 000 deaths of cervical cancer, accounting for 3.26% of all cancer deaths. The burden of cervical cancer worldwide is severe. The article summarizes the epidemiological trends of cervical cancer worldwide with the latest data, and provides etiological basis and theoretical support for the prevention and treatment of cervical cancer in women.

Objective:To evaluate the therapeutic efficacy and safety of SRS-Schwab Grade VI osteotomy in the management of severe angular kyphosis and to assess perioperative and postoperative complications.Methods:A comprehensive retrospective analysis was conducted on 19 patients diagnosed with severe angular kyphosis who underwent SRS-Schwab Grade VI osteotomy between June 2011 and June 2021. Various radiographic parameters, including global kyphosis (GK), sagittal vertical axis (SVA), thoracic kyphosis (TK), lumbar lordosis (LL), pelvic tilt (PT), pelvic incidence (PI), and sacral slope (SS), were quantified through standing radiographs obtained preoperatively, postoperatively, and at the most recent follow-up. Incidences of intraoperative and postoperative complications were meticulously recorded. The Scoliosis Research Society-22 (SRS-22) score was utilized to gauge patient quality of life, while neurological function was appraised using the American Spinal Injury Association (ASIA) grading system.Results:The mean follow-up duration was 24.9±9.5 months, ranging from 12 to 49 months. The intraoperative blood loss averaged 2 995.3±1 357.6 ml, with a mean operative time of 414.5±65.8 minutes. The osteotomy was performed across an average of 2.4±0.6 segments, with 11.0±1.7 segments subsequently fused. Statistically significant alterations were observed in multiple parameters including GK ( F=658.56, P<0.001), SVA ( F=18.86, P<0.001), LL ( F=180.73, P<0.001), TK ( F=166.12, P<0.001), PT ( F=14.68, P<0.001), and SS ( F=6.03, P=0.005) when compared at preoperative, immediate postoperative, and ultimate follow-up intervals. PI remained statistically invariable ( F=0.29, P=0.750). Preoperative mean values for GK and SVA were 107.4°±9.1° and 38.4±19.7 mm, respectively. Postoperatively, GK was dramatically reduced to 39.7°±12.1° ( t=25.59, P<0.001), reflecting a correction rate of 63.2%±10.1%. Concurrently, SVA was markedly improved to 18.1±10.6 mm ( t=4.22, P=0.001). Notably, the correction remained stable during subsequent follow-ups. Functional and self-image domain scores exhibited a significant elevation at the final follow-up in comparison to preoperative values. Seven patients experienced intraoperative neurophysiological monitoring events, but no enduring neurological deficits were discerned postoperatively. A singular case of postoperative neurological impairment was attributed to spinal cord hematoma. Moreover, proximal junctional kyphosis (PJK) manifested in six patients during follow-up, while implant failure was conspicuously absent. Conclusion:SRS-Schwab Grade VI osteotomy demonstrates a commendable efficacy in the correction of severe angular kyphosis, with the resultant alignment proving to be durably maintained throughout the follow-up period.