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BACKGROUND:Exosomes are vesicle-like structures secreted by cells into extracellular compartments in the form of cytosol,which contain a large amount of microRNAs with important intercellular communication roles.MicroRNAs in exosomes rely on exosome transport and are able to enter target cells to exert important biological regulatory effects.In common bone and joint diseases,abnormal or damaged bone metabolism releases a large number of exosomes,while some exosome-derived microRNAs also promote the progression of osteoarthritis.Therefore,exosome-derived microRNAs are closely related to the skeletal system and are important for the development as well as diagnosis and treatment of many osteoarticular diseases. OBJECTIVE:To review the research progress of exosome-derived microRNAs in bone metabolism and bone and joint diseases. METHODS:Using"exosomes,extracellular vesicle,microRNA,miRNA,bone,bone diseases,bone formation,bone regeneration,bone resorption,bone destruction"as Chinese and English search terms,articles were searched on CNKI,Metasys,and PubMed databases.Finally,86 articles were included for summarization. RESULTS AND CONCLUSION:Exosome-derived microRNAs can regulate bone metabolism by affecting bone formation and bone resorption,and are closely related to the development of bone and joint diseases such as fracture healing,osteoporosis,osteoarthritis,rheumatoid arthritis,osteonecrosis of the femoral head,and osteosarcoma.Exosome-derived microRNAs will be an effective means of diagnosis and treatment of certain bone and joint diseases in the future.However,the current research on exosome-derived microRNAs in osteoarthritic diseases is limited,and more explorations and researches are still needed to diagnose and treat osteoarthritic diseases using exosome-derived microRNAs.
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Objectives:To investigate the safety and efficacy of concomitant mitral valvuloplasty(MVP)and implantation of domestic third-generation magnetically levitated Corheart 6 left ventricular assist device(LVAD). Methods:Clinical data of 13 end-stage heart failure patients who underwent Corheart 6 LVAD implantation and MVP at Central China Fuwai Hospital of Zhengzhou University from October 2021 to March 2023 were retrospectively analyzed.Mortality and complication events during hospitalization and at follow-up were collected,and changes in myocardial injury biomarkers,renal function,hemodynamics,and echocardiographic indices were observed. Results:There were no perioperative deaths and no MVP-related complications in these patients.During a mean follow-up of(14.2±5.6)months,2 patients died due to COVID-19 pneumonia and cardiac arrest respectively,11 cases(84.6%)survived.There were no recurrences of moderate-to-severe mitral regurgitation in the survived patients.Compared with preoperative value,higher cardiac output,lower central venous pressure,pulmonary artery systolic pressure(PASP),and mean pulmonary artery pressure(PAMP)were evidenced at 24 h and 72 h postoperatively,estimated glomerular filtration rate was also reduced at 1 week post operation(all P<0.010).High-sensitive troponin T level was significantly increased at 1 week post operation and then reduced at 1 month post operation,but still not returned to pre-operative level([125.5±281.9]pg/ml at baseline,[1 295.6±654.6]pg/ml at 1 week post operation and[278.0±300.5]pg/ml at 1 month post operation).Echocardiography showed that compared with preoperative period,the left ventricular ejection fraction tended to be higher at 1 and 6 months postoperatively(both P>0.017),whereas left ventricular end-diastolic dimension,PASP,and PAMP were significantly reduced(all P<0.010). Conclusions:Domestic third-generation magnetically levitated Corheart 6 LVAD implantation with concomitant MVP is safe and feasible,there is no recurrence of moderate-to-severe mitral regurgitation,a significant reduction in pulmonary artery pressure,and significant hemodynamic improvement in early to mid-term postoperatively are observed in survived patients.
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The 2023 American Society of Clinical Oncology Genitourinary Cancers Symposium unveiled numerous research advances which provide meaningful insights into the selection of treatment regimens of prostate cancer. Precision multi-treatment based on patients’ characteristics has become the predominant approach, including the use of a three-drug combination therapy for metastatic hormone-sensitive prostate cancer, and poly adenosine diphosphate ribose polymerase inhibitor therapy for metastatic castration-resistant prostate cancer. Nuclear medicine therapy and radiotherapy are also receiving significant attention. Integrated nuclear medicine diagnosis and therapy show immense potential for non-metastatic castration-resistant prostate cancer. Additionally, for localized prostate cancer, stereotactic body radiotherapy is a preferred alternative to surgery. This article sheds light on several key studies presented at the conference, focuses on prostate cancer treatment at different stages, and intends to enhance the therapeutic outcome for prostate cancer patients.
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OBJECTIVE@#To explore the genetic basis for an infant with permanent neonatal diabetes mellitus (PNDM).@*METHODS@#Clinical data of the child was collected. Targeted capture-next generation sequencing was carried out to identify the potential variants. Candidate variant was verified by Sanger sequencing of her family members.@*RESULTS@#The child was a 4-month-and-26-day female featuring onset of ketoacidosis accompanied with fasting blood glucose of 24.4 mmol/L, positive urine glucose, decreased serum C-peptide, HbA1c of 9.58%, and negative diabetes autoantibody. Genetic testing revealed that she has carried a heterozygous c.314T>G (p.L105R) variant of the INS gene. Sanger sequencing verified that neither of her parents has carried the same variant, which was also unreported in the literature. The variant was classified as likely pathogenic based on the ACMG guidelines.@*CONCLUSION@#The c.314T>G (P.L105R) variant of the INS gene probably underlay the genetic etiology in this child. Genetic testing should be conducted for children with suspected PNDM for early diagnosis and appropriate treatment.
الموضوعات
Humans , Infant , Child , Infant, Newborn , Female , Mutation , Insulin/genetics , Diabetes Mellitus/genetics , Genetic Testingالملخص
Objective:To compare the efficacies of robot-assisted unilateral and manual unilateral/bilateral puncture kyphoplasty (PKP) for the treatment of osteoporotic thoracolumbar fracture (OTLF).Methods:A retrospective cohort study was conducted to analyze the clinical data of 64 OTLF patients admitted to First Affiliated Hospital of Kunming Medical University from April 2021 to May 2022. The patients included 28 males and 36 females, aged 57-88 years [(74.5±5.6)years]. Fracture segments were 12 patients from T 1-T 9, 32 from T 10-L 2, and 20 from L 3-L 5. All the patients were treated with PKP. Among them, 25 patients underwent manual unilateral puncture (manual unilateral group), 18 patients underwent manual bilateral puncture (manual bilateral group), and 21 patients underwent robot-assisted unilateral puncture (robot-assisted unilateral group). The operation time, channel establishment time, intraoperative blood loss, intraoperative fluoroscopy times, bone cement injection volume, and bone cement spatial distribution score were compared among the three groups. The visual analogue score (VAS), Oswestry disability index (ODI) and Cobb angle of kyphosis were compared among the three groups before operation, at 3 days and 3 months after operation, and at the last follow-up. The incidence of complications was compared. Results:All the patients were followed up for 6-10 months [(7.0±0.9)months]. The operation time of the manual unilateral group was (30.2±6.1)minutes, which was shorter than (37.9±8.9)minutes of the robot-assisted unilateral group and (49.0±10.2)minutes of the manual bilateral group; the operation time of the robot-assisted unilateral group was markedly shorter than that of the manual bilateral group (all P<0.05). The channel establishment time of the robot-assisted unilateral group was (4.7±1.4)minutes, which was markedly shorter than (10.4±4.4)minutes of the manual unilateral group and (21.7±6.2)minutes of the manual bilateral group (all P<0.05). The intraoperative blood loss of the robot-assisted unilateral group was (23.8±7.2)ml, which was less than (34.3±7.7)ml of the manual unilateral group and (55.9±18.7)ml of the manual bilateral group (all P<0.05). The number of intraoperative fluoroscopy of the robot-assisted unilateral group was (12.1±2.5)times, which was markedly less than (21.2±5.9)times of the manual unilateral group and (39.6±9.5)times of the manual bilateral group (all P<0.05). The channel establishment time, intraoperative blood loss and intraoperative fluoroscopy times of the manual unilateral group were markedly shorter or less than those of the manual bilateral group (all P<0.05). The bone cement injection volume and bone cement distribution score of the robot-assisted unilateral group were (4.7±1.3)ml and (7.9±1.2)points, which were not statistically different from (5.7±1.3)ml and (8.7±1.1)points of the manual bilateral group (all P>0.05), but were markedly higher than (3.0±1.3)ml and (5.1±1.8)points of the manual unilateral group (all P<0.05). There were no significant differences in VAS, ODI and Cobb angle among the three groups at 3 days, 3 months after operation and at the last follow-up (all P>0.05), but which were all lower than those before surgery (all P<0.05). There were no significant differences in VAS, ODI and Cobb angle among three groups before operation, at 3 days, 3 months after surgery and at the last follow-up (all P>0.05). The complication rate was 4.8% (1/21) of the robot-assisted unilateral group, 32.0% (8/25) of the manual unilateral group, and 33.3% (6/18) of the manual bilateral group, with no significant difference between the manual unilateral group and the manual bilateral group ( P>0.05), but both of which was markedly higher than that of the robot-assisted unilateral group ( P<0.05). Conclusion:Robot-assisted unilateral puncture and manual unilateral/bilateral puncture PKP can both achieve satisfactory results for the treatment of OTLF, but robot-assisted unilateral puncture has shorter channel establishment time, less intraoperative blood loss and intraoperative fluoroscopy times, and lower complication rate.
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Objective:Efficacy and safety of robot-assisted laparoscopic adrenalectomy as a treatment for large adrenal tumors.Three-dimensional(3D) reconstruction can effectively assist in preoperative planning of robotic adrenalectomy and reduce potential complications.Methods:We retrospectively reviewed the relevant information of patients who had a preoperative 3D reconstruction and underwent RA for adrenal masses larger than 10 cm. Thirteen male patients and sixteen female patients were included. The median(range) age was 43(25, 57) years old and the median tumor diameter was 12.1(10.3, 16.2) cm. The patients underwent preoperative CT enhancement scanning, and three-dimensional images were reconstructed based on the examination data. Robot-assisted laparoscopic adrenalectomy was performed under general anesthesia in 29 cases in this cohort.Results:All surgeries were completed successfully without major complications such as massive bleeding, secondary surgery, or even patient death. The median operative time was 131 (80, 245) min, and the median intraoperative bleeding was 330 (50, 2 200 ml) ml. 9 patients received blood transfusions. There were 11 cases of pheochromocytoma (37.9%), 10 cases of adenocarcinoma (34.5%) as well as 2 cases of teratoma (6.9%) and 6 cases of cortical carcinoma (20.7%). The patients were followed up for a median of 30 months after surgery. Except for 3 cases lost to follow-up and 2 patients with cortical cancer who developed recurrence or metastasis after surgery and died at 16 and 23 months after surgery, respectively, the remaining 24 cases have survived to date.Conclusions:RA is a safe and effective treatment for huge adrenal tumors. The 3D reconstruction could help the preoperative planning of RA and reduce potential complications.
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Objective:To provide molecular evidence for clinical diagnosis and genetic counseling by analyzing the clinical characteristics and identifying the pathogenic genes in a SPONASTRIME-type spondyloepimetaphyseal dysplasia(SEMDSP)family.Methods:Clinical data of the family members was collected and analyzed. Case 2 was identified as the proband for whole-exome sequencing and variant analysis. Suspected variants were validated across family numbers using Sanger sequencing.Results:The two affected individuals in this family, a brother and a sister, both presented as short stature. The initial diagnosis for the sister(case 1)was made at the age of 4 years and 2 months(height: 88.6 cm), and for the brother(case 2)at 4 years and 4 months(height: 81.6 cm). Both individuals exhibited distinctive facial features, including frontal bossing, midface hypoplasia with depressed nasal bridge, upturned nostrils, ocular hypertelorism, and epicanthus, thick hair, short lingual frenulum, stubby fingers and palms, and absence of scoliosis. The parents displayed normal phenotypes. Laboratory tests indicated growth hormone deficiency in both affected individuals. Imaging studies revealed significant bone age delay in case 2, while case 1 showed longitudinal striations at the distal radius but with bone age matching their actual age(5 years and 11 months). Despite receiving recombinant human growth hormone treatment, both patients had inadequate responses. Genetic testing identified compound heterozygous mutations in the TONSL gene shared by the two siblings. These mutations included a paternally inherited c. 1291-14_1291-11delCCTC and a maternally inherited c. 1909_1920delACGCTGCAGCAG. Notably, SEMDSP families have not been reported in China, and the c. 1909_1920delACGCTGCAGCAG mutation is a novel variant.Conclusion:Two patients were diagnosed as spondyloepimetaphyseal dysplasia, SPONASTRIME type, and the compound heterozygous variant was the genetic cause of this family.
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The prevalence of heart failure(HF) is increasing worldwide, and mitral regurgitation(MR) is a common manifestation in patients with end-stage HF. Currently, the indications for concomitant surgical intervention of significant preoperative MR during left ventricular assist device(LVAD) implantation are still controversial. Based on discussing the etiology, classification, and pathophysiology of functional MR in patients with end-stage HF, this paper reviews the relevant factors affecting the prognosis of such patients and the progress of research related to whether to perform mitral valve surgery to intervene in significant MR during LVAD implantation, to provide a further reference for clinical practice.
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Objective:To evaluate the efficacy and safety of azacytidine (AZA) combined with homoharringtonine (HHT) and low-dose cytarabine (LDAC) in the treatment of acute myeloid leukemia (AML) patients with 3+ 7 conventional regimen intolerance.Methods:A retrospective analysis was conducted on the clinical characteristics, efficacy, prognosis, and adverse events of 33 AML patients (15 initially diagnosed and 18 relapsed/refractory) admitted to the Second Xiangya Hospital of Central South University.Results:Among the 33 AML patients treated with this regimen, the median age was 55 years old, 9 patients had a moderate cytogenetic risk, and 18 patients had a high cytogenetic risk. Among the 33 patients, 3 were lost to follow-up and 1 had incomplete data. Among the remaining 29 patients who received AZA+ HHT+ LDAC treatment, the total complete response (CR) rate was 69.0%(20/29), and the total response rate (ORR) was 79.3%(23/29); The median progression free survival (PFS) was 7.0 months. Among the subgroup analysis, including age, gender, Eastern Cooperative Oncology Group (ECOG) score, disease classification, bone marrow progenitor cells, peripheral blood leukocytes, risk stratification, and epigenetic abnormalities, only CR rates and PFS differences were statistically significant among different ECOG scoring groups ( P=0.048; P=0.021). A total of 29 patients underwent 69 AZA+ HHT+ LDAC chemotherapy cycles. Retrospective grading was performed on 69 cycles based on common toxicity criteria for adverse events (CTC AE version 5.0). The most common grade Ⅲ-Ⅳ hematological adverse events were thrombocytopenia (54/69, 78.3%) and granulocytopenia (48/69, 69.6%). Common non hematological adverse events included nausea (19/69, 27.5%), infection (17/69, 24.6%), and hypokalemia (18/69, 26.1%). Conclusions:AZA combined with HHT and LDAC has a good therapeutic effect in the treatment of acute myeloid leukemia, and adverse reaction events are controllable.
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During coronavirus disease 2019 epidemic, the treatment of severe trauma has been impacted. The Consensus on emergency surgery and infection prevention and control for severe trauma patients with 2019 novel corona virus pneumonia was published online on February 12, 2020, providing a strong guidance for the emergency treatment of severe trauma and the self-protection of medical staffs in the early stage of the epidemic. With the Joint Prevention and Control Mechanism of the State Council renaming "novel coronavirus pneumonia" to "novel coronavirus infection" and the infection being managed with measures against class B infectious diseases since January 8, 2023, the consensus published in 2020 is no longer applicable to the emergency treatment of severe trauma in the new stage of epidemic prevention and control. In this context, led by the Chinese Traumatology Association, Chinese Trauma Surgeon Association, Trauma Medicine Branch of Chinese International Exchange and Promotive Association for Medical and Health Care, and Editorial Board of Chinese Journal of Traumatology, the Chinese expert consensus on emergency surgery for severe trauma and infection prevention during coronavirus disease 2019 epidemic ( version 2023) is formulated to ensure the effectiveness and safety in the treatment of severe trauma in the new stage. Based on the policy of the Joint Prevention and Control Mechanism of the State Council and by using evidence-based medical evidence as well as Delphi expert consultation and voting, 16 recommendations are put forward from the four aspects of the related definitions, infection prevention, preoperative assessment and preparation, emergency operation and postoperative management, hoping to provide a reference for severe trauma care in the new stage of the epidemic prevention and control.
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Objective:To investigate the clinical characteristics, diagnosis and treatment of dermatomyositis with kidney neoplasm.Methods:The data of two patients with dermatomyositis complicated with kidney neoplasm in Tongji Hospital from January to February 2022 were retrospectively analyzed. The first case was a 55-year-old female, who was admitted with the chief complaints of recurrent erythema of upper extremities for 2 months and facial erythema for 1 month. Physical examination: erythema can be seen on upper limbs and face, no tenderness or percussion pain in kidney area. Myositis enzyme profile test showed that anti-Mi-2 antibody and anti-SSA /Ro-52 antibody were positive. Contrast CT showed nodular uneven enhancement in the right kidney with a size of 50 mm×41 mm. The second case was a 58-year-old female, who was admitted with the chief complaints of kidney occupying for a month. Physical examination: flaky erythema on face, no tenderness or percussion pain in kidney area. Myositis enzyme profile test showed that anti-Ro-52 antibody and anti-MDA5 antibody were positive. Contrast CT showed a significantly uneven enhanced mass with a size of about 50 mm×41 mm on left kidney. Both patients were diagnosed with kidney neoplasm before surgery and underwent laparoscopic partial nephrectomy in Tongji Hospital.Results:Both patients received regular oral prednisone after surgery. The pathological presentation of case 1 was papillary renal cell carcinoma, the facial erythema subsided 1 month after surgery, and there was no tumor recurrence for 13 months. The pathological presentation of case 2 was clear cell renal cell carcinoma, facial erythema subsided 2 weeks after surgery, and there was no tumor recurrence for 12 months.Conclusions:The diagnosis of dermatomyositis should be combined with clinical manifestations and laboratory examination, and the possibility of malignant tumor should be excluded due to the high likelihood of concomitant malignancy. For patients with dermatomyositis with kidney neoplasm, the main treatment is still surgery, and supplemented with glucocorticoid therapy.
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Objective:To explore the clinical and molecular genetic characteristics of patients with maturity-onset diabetes of the young type 2(MODY2).Methods:Clinical data and laboratory results were collected from five MODY2 patients and their family members diagnosed in the Department of Endocrinology, Genetics, and Metabolism of Xi ′an Children′s Hospital in the recent two years. Whole exome sequencing was carried out on every proband to identify potential variants, then the suspected variants were verified with Sanger sequencing in family numbers.Results:Among the 5 probands, except for proband 4 who presented with polydipsia and polyuria, hyperglycemia in the rest of the children was accidentally identified. Urine routine, urinary protein, and blood lipid of the five probands were all normal, and HbA 1C was between 5.96% and 8.15%. Moreover, an important discovery in this study was that proband 5 had insulin resistance(IRS), which was different from previous studies. It was confirmed by genetic analysis that a glucokinase(GCK) gene variant existed in every MODY2 pedigree. There were four GCK variants in this study, including c. 146C>T(p.T49I), c. 1237T>G(p.Y413D), c. 683C>T(p.T228M) and c. 952G>T(p.G318W), among which the C. 1237T>G(P.y413d) and C. 952G>T(P.G318W) had not been reported till now. All probands received lifestyle intervention, and the blood glucose control was relatively stable. Conclusion:There is MODY2 patient complicated with IRS. MODY2 patients can be controlled well by lifestyle interventions. In addition, we discovered two novel variants of GCK, which extend the mutation spectrum of this gene.
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OBJECTIVE@#To explore the clinical features and genetic variants in two children with neonatal severe hyperparathyroidism (NSHPT).@*METHODS@#Two children who were diagnosed with NSHPT at the Children's Hospital Affiliated to Xi'an Jiaotong University respectively in August 2019 and April 2022 were selected as the study subjects. Clinical data were collected, and both children were subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing.@*RESULTS@#The main clinical features of the two children have included growth delay, hypotonia, hypercalcemia, hypophosphatemia, hyperparathyroid hormonemia, and renal calcium deposition. WES results showed that child 1 has harbored a homozygous c.1378_1G>A splicing variant of the CASR gene, which was unreported previously, whilst child 2 has harbored a homozygous c.2038C>T missense variant of the CASR gene, which was known to be likely pathogenic. Sanger sequencing confirmed that the parents of both children were heterozygous carriers.@*CONCLUSION@#The homozygous c.1378_1G>A and c.2038C>T variants of the CASR gene probably underlay the NSHPT in the two children. Discovery of the c.1378_1G>A variant has enriched the mutational spectrum of the CASR gene.
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Humans , Child , Mutation , Homozygoteالملخص
OBJECTIVE@#To explore the clinical features and genetic etiology of a patient with primary distal renal tubular acidosis (dRTA).@*METHODS@#A child who was diagnosed with primary dRTA at the Xi'an Children's Hospital in April 2021 due to poor appetite and persistent crying was selected as the study subject. Clinical data of the patient was collected. Whole exome sequencing (WES) was carried out for the child. Candidate variants were validated by Sanger sequencing of his family members.@*RESULTS@#The child, a 1-month-and-18-day male, had featured poor appetite, persistent crying, poor weight gain and dehydration. Laboratory examination has suggested metabolic acidosis, hyperchloremia, hypokalemia, abnormal alkaline urine and anemia. Ultrasonographic examination of the urinary system revealed calcium deposition in renal medulla. DNA sequencing revealed that he has harbored compound heterozygous variants of the ATP6V0A4 gene, namely c.1363dupA (p.M455NfsX14) and c.2257C>T (p.Q753X), which were respectively inherited from his father and mother. Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were classified as pathogenic (PVS1+PM3+PM2_Supporting).@*CONCLUSION@#The compound heterozygous variants of c.1363dupA (p.M455NfsX14) and c.2257C>T (p.Q753X) of the ATP6V0A4 gene probably underlay the pathogenesis of primary dRTA in this patient. Discovery of the c.2257C>T (p.Q753X) variant has also expanded the mutational spectrum of the ATP6V0A4 gene.
الموضوعات
Humans , Male , Infant , Acidosis, Renal Tubular/genetics , Family , Genomics , Hypokalemiaالملخص
The Coronavirus disease 2019 (COVID-19) has spread globally. Although mixed liver impairment has been reported in COVID-19 patients, the association of liver injury caused by specific subtype especially chronic hepatitis B (CHB) with COVID-19 has not been elucidated. In this multi-center, retrospective, and observational cohort study, 109 CHB and 327 non-CHB patients with COVID-19 were propensity score matched at an approximate ratio of 3:1 on the basis of age, sex, and comorbidities. Demographic characteristics, laboratory examinations, disease severity, and clinical outcomes were compared. Furthermore, univariable and multivariable logistic and Cox regression models were used to explore the risk factors for disease severity and mortality, respectively. A higher proportion of CHB patients (30 of 109 (27.52%)) developed into severe status than non-CHB patients (17 of 327 (5.20%)). In addition to previously reported liver impairment markers, such as alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase, and total bilirubin, we identified several novel risk factors including elevated lactate dehydrogenase (⩾ 245 U/L, hazard ratio (HR) = 8.639, 95% confidence interval (CI) = 2.528-29.523; P < 0.001) and coagulation-related biomarker D-dimer (⩾ 0.5 µg/mL, HR = 4.321, 95% CI = 1.443-12.939; P = 0.009) and decreased albumin (< 35 g/L, HR = 0.131, 95% CI = 0.048-0.361; P < 0.001) and albumin/globulin ratio (< 1.5, HR = 0.123, 95% CI = 0.017-0.918; P = 0.041). In conclusion, COVID-19 patients with CHB were more likely to develop into severe illness and die. The risk factors that we identified may be helpful for early clinical surveillance of critical progression.
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Humans , COVID-19 , Cohort Studies , Hepatitis B, Chronic/epidemiology , Retrospective Studies , Risk Factorsالملخص
Objective:To investigate the effect of teriparatide on residual back pain (RBP) after percutaneous kyphoplasty (PKP) for osteoporotic vertebral compression fracture (OVCF).Methods:A retrospective cohort study was used to analyze the clinical data of 90 OVCF patients sustaining RBP after PKP admitted to Second Affiliated Hospital of Kunming Medical University from September 2015 to March 2019, including 18 males and 72 females, at age of 57-85 years［(68.0±5.9) years］. Teriparatide treatment was applied regularly in 32 patients (teriparatide group) and antiosteoporosis drug was administered routinely in 58 patients (routine treatment group). Visual analogue scale (VAS) and Oswestry disability index (ODI) were compared between the two groups before operation, at 24 hours, 1 month, 3 months, 6 months and 12 months after operation. Anterior vertebral body height (ABH), middle vertebral body height (MBH), kyphosis angle (KA), maintenance rate of anterior vertebral body height (MRABH), maintenance rate of middle vertebral body height (MRMBH) and difference of kyphosis angle (DKA) were measured at 24 hours and 12 months after operation to evaluate the maintenance of vertebral height and incidence of vertebral refracture. Levels of type I collagen carboxy-terminal peptide (β-CTX) and serum N-terminal osteocalcin (N-MID) were measured before operation and at 12 months after operation to evaluate the improvement of bone metabolism. The adverse reactions of teriparatide group were observed.Results:All patients were followed up for 12-36 months［(14.3±0.6)months］. VAS and ODI were decreased gradually with time in both groups (all P<0.01). There were no significant differences in VAS between the two groups before operation and at 24 hours after operation (all P>0.05). Teriparatide group showed VAS of (4.4±0.6)points, (3.2±0.5)points, (2.0±0.5)points, (1.1±0.1)points at 1, 3, 6 and 12 months after operation, significantly lower than those in routine treatment group［(4.9±0.6)points, (4.0±0.6)points, (3.2±0.7)points, (2.7±0.1)points, respectively］(all P<0.01). Teriparatide group showed ODI of 26.5±1.3 and 20.6±1.2 at 6 months and 12 months after operation, significantly lower than those in routine treatment group (28.2±1.6, 23.6±1.6) (all P<0.01). There were no significant differences in ODI between the two groups at other time points (all P>0.05). Both groups presented significantly lowered levels of ABH and MBH at 12 months after operation as compared with those at 24 hours after operation (all P<0.01). There were no significant differences in ABH or MBH between the two groups at 24 hours after operation (all P>0.05). ABH, MBH, MRABH and MRMBH in teriparatide group were (1.9±0.2)cm, (1.7±0.2)cm, 0.91±0.02 and 0.92±0.02 at 12 months after operation, significantly higher than those in routine treatment group［(1.7±0.2)cm, (1.6±0.2)cm, 0.86±0.02 and 0.87±0.02］(all P<0.01). KA in both groups showed significant increase at 12 months after operation as compared with that at 24 hours after operation (all P<0.01). There was no significant difference in KA between the two groups at 24 hours after operation ( P>0.05). KA in teriparatide group was (7.3±0.7)° at 12 months after operation, significantly lower than (9.5±0.5)° in routine treatment group ( P<0.01). DKA in teriparatide group was (5.3±1.3)° at 12 months after operation, significantly lower than (6.6±1.4)° in routine treatment group ( P<0.01). Incidence of vertebral refracture in teriparatide group was 7% (2/32), significantly lower than 35% (15/58) in routine treatment group ( P<0.05). Level of β-CTX was not significantly different between and within the two groups before operation and at 12 months after operation (all P>0.05). There was no significant difference in N-MID between the two groups before operation ( P>0.05). After treatment for 12 months, level of N-MID in teriparatide group was significantly increased［19.5 (17.6, 20.9)pg/ml］as compared with that before operation［18.2 (14.6, 21.0)pg/ml］( P<0.01), and was significantly higher than that in routine treatment group［17.6 (15.3, 19.9)pg/ml］( P<0.01). Routine treatment group showed no significant difference in level of N-MID before operation and at 12 months after operation ( P>0.05). Two patients in teriparatide group had orthostatic hypotension after treatment. Conclusion:For OVCF patients with RBP after PKP, teriparatide can effectively alleviate pain, improve motor dysfunction, maintain the height of bone cement vertebral body, reduce incidence of vertebral refracture and enhance the activity of osteoblasts, with less adverse reactions.
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Objective:To investigate the risk factors of cement vascular leakage after vertebral augmentation for osteoporotic vertebral compression fracture (OVCF).Methods:A case-control study was conducted to analyze the clinical data of 217 patients with OVCF undergone vertebral augmentation [percutaneous vertebroplasty (PVP) or percutaneous kyphoplasty (PKP)] in First and Second Affiliated Hospital of Kunming Medical University from October 2019 to October 2020. There were 79 males and 138 females, at the age range of 58-88 years [(73.1±6.9)years]. According to the occurrence of bone cement vascular leakage, the patients were divided into vascular leakage group ( n=39) and vascular leakage free group ( n=178). The gender, age, bone mineral density, time from injury to operation, anatomical position of injured vertebrae, degree of vertebral compression, integrity of posterior wall, intravertebral fissure sign, vertebrobasilar venous foramen, surgical approach, surgical method, cement injection period, cement injection speed, cement injection volume and cement injection area were recorded. Univariate analysis was used to detect the correlation of those indices with cement vascular leakage after vertebral augmentation. Multivariate Logistic regression analysis was used to identify the independent risk factors for cement vascular leakage after vertebral augmentation. Results:Univariate analysis showed that there was a correlation of cement vascular leakage after vertebral augmentation with time from injury to operation, degree of vertebral compression, integrity of posterior wall, intravertebral fissure sign, vertebrobasilar venous foramen, surgical method, cement injection period, cement injection speed, cement injection volume and cement injection area (all P<0.05), apart from gender, age, bone mineral density, anatomical position of injured vertebrae or surgical approach (all P>0.05). Multivariate Logistic regression analysis showed intravertebral fissure sign ( OR=7.00, 95% CI 1.57-31.30, P<0.05), vertebrobasilar venous foramen ( OR=7.52, 95% CI 1.94-29.16, P<0.01), PVP ( OR=10.98, 95% CI 2.51-47.94, P<0.01), injection of cement in thinning period ( OR=5.91, 95% CI 1.45-24.15, P<0.05), injection of large volume of cement ( OR=3.60, 95% CI 1.70-7.65, P<0.01) and marginal injection of cement ( OR=24.80, 95% CI 5.28-116.37, P<0.01) were significantly associated with cement vascular leakage after vertebral augmentation for OVCF. Conclusion:Intravertebral fissure sign, vertebrobasilar venous foramen, PVP, injection of cement in thinning period, injection of large volume of cement and marginal injection of cement are independent risk factors for cement vascular leakage after vertebral augmentation for OVCF.
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Objective:To explore the risk factors of adjacent segment diseases (ASDis) after lumbar fusion, summarize the prevention strategies and provide reference for clinical treatment.Methods:All of 258 patients who underwent lumbar interbody fusion from March 2014 to March 2019 were retrospectively analyzed, including 95 males and 163 females, the age of whom was 61.8±8.4 years (range, 39-77 years). The patients were divided into ASDis group and non-ASDis group according to whether ASDis occurred at the follow-up of 24 months after operation. The patient's individual factors [gender, age, body mass index (BMI), main diagnosis, preoperative paraspinal muscle fatty degree, etc.] and surgical factors (operation type, fixed segment, fusion segment, etc.), sagittal parameters [lumbar lordosis (LL), pelvic incidence (PI), pelvic tilt (PT), sacral slope (SS), PI-LL] were recorded. After univariate analysis of potential risk factors, the factors with P<0.05 were substituted into logistic regression model for multivariate analysis to determine the risk factors of ASDis after lumbar fusion. Results:ASDis occurred in 24 patients after lumbar fusion, with an incidence of 9.3% (24/258); univariate analysis showed that age ≥ 60 years old, complicated with osteoporosis, preoperative fatty degree of paraspinal muscle (GCS grade≥3), PLIF operation, suspension fixation, total laminectomy and multi-segment fusion (≥ 3 segments) were the potential risk factors for ASDis after operation (P<0.05); Gender, education level, partner status, type of work, BMI, obesity (BMI≥24 kg/m 2) , smoking, use of bisphosphonates, concomitant lumbar spinal stenosis, lumbar lordosis angle, pelvic incidence angle, pelvic tilt angle, sacral slope angle, and PI-LL had no significant correlation with ASDis. Logistic regression analysis showed that age ≥ 60 years ( OR=5.63, 95% CI: 1.56, 20.29, P=0.008), preoperative paravertebral muscle fatty GCS ≥ 3 ( OR=4.82, 95% CI: 1.36, 17.13, P=0.015), combined with osteoporosis ( OR=14.04, 95% CI: 2.53, 77.79, P=0.002), PLIF ( OR=9.69, 95% CI: 1.91, 49.03, P=0.001), and multi-segment fixation ( OR=9.36, 95% CI: 1.77, 49.41, P=0.008) were the risk factors for ASDis after lumbar fusion; Incomplete laminectomy ( OR=0.09, 95% CI: 0.02, 0.37, P=0.001) and suspension fixation ( OR=0.16, 95% CI: 0.02, 0.94, P=0.042) were the protective factors of ASDis after lumbar fusion. Conclusion:The patients with age ≥ 60 years old, osteoporosis and preoperative paraspinal muscle fatty degree ≥ 3 grade GCS should be more careful in choosing the surgical methods, and try to choose transforaminal interbody fusion, posterolateral fusion, short segment fusion, decompression with preservation of vertebral lamina, suspension fixation and other surgical methods to reduce the incidence of postoperative ASDis.
الملخص
Objective:To analyze the clinical and genetic characteristics of five patients with familial male-limited precocious puberty(FMPP).Methods:The clinical data, laboratory and imaging results of the five patients with FMPP were collected. Whole exome sequencing was carried out to identify the potential variants. Suspected variants were verified by Sanger sequencing of family numbers.Results:Of the five patients, four were children and one was an adult. All the four children presented to hospital with premature sexual development at age less than 4 years. Serum testosterone was elevated, luteinizing hormone(LH) and follicle stimulating hormone(FSH) basal values were at prepubertal levels, and gonadotropin-releasing hormone(GnRH) stimulation test suggested peripheral precocious puberty. Genetic analysis revealed the mutations of LHCGR genes in all the five patients. Patients 1, 2, 3, and 4 carried the same heterozygous mutation c. 1713G>C(p.M571I), and the patient 5 carried the c. 1741T>C(p.C581R)variation. The four children were treated with anti-androgen preparations and the third-generation aromatase inhibitors, all of which were effective.Conclusion:The c. 1713G>C mutation of LHCGR gene is a novel one which expands the mutation spectrum of LHCGR gene. Combined treatment with bicaluamide and the third generation aromatase inhibitors can improve clinical symptoms and delay epiphyseal closure in children with FMPP.
الملخص
Objective:To investigate the clinial phenotype and genetic characteristics of a child with cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma (CEDNIK) syndrome and to improve the clinicians′ understanding of this disease.Methods:Clinical data of the child with CEDNIK syndrome diagnosed in Department of Endocrinology, Genetics and Metabolism, Xi′an Children′s Hospital in June 2020 were collected. Whole exome sequencing was carried out to identify the potential variants of SNAP29 gene. Suspected variants were verified by Sanger sequencing of family numbers. The literature about the cases of CEDNIK syndrome were reviewed.Results:The proband is a boy, who was aged 1 year and 4 months, had the manifestations of psychomotor retardation, microcephaly, feeding difficulties, severe malnutrition, recurrent respiratory tract infection, binocular esotropia, sensorineural deafness, cutaneous ichthyosis and keratosis, left cryptorchidism. Brain magnetic resonance imaging indicated congenital dysplasia. Whole exome sequencing identified a homozygous variant of c.383dupT (p.E129Rfs *5) in the SNAP29 gene of the proband, and the heterozygous variation was observed at the same locus in his parents, which conformed to the autosomal recessive inheritance. This mutataion was determined as a pathogenic mutation according to the guidelines of American College of Medical Genetics and Genomics. Literature retrieval showed currently a total of 29 cases of CEDNIK syndrome were reported, containing 8 types of SNAP29 gene mutation. However, there was no Chinese case reported. And the c.383dupT (p.E129Rfs *5) mutation found in this study was a novel one which had not been reported yet. Conclusion:The phenotype of the proband is generally consistent with the CEDNIK syndrome and the novel c.383dupT (p.E129Rfs *5) mutation of SNAP29 gene is the genetic cause.