Hypoprothrombinemia-lupus anticoagulant syndrome(HLAS)is a rare disease in which patients present with varying degrees of bleeding and positive lupus anticoagulant with reduced prothrombin on laboratory tests.This article reports a case of HLAS in a middle-aged woman with recurrent gingival bleeding and epistaxis as the first presentation.After admission,tests revealed prolonged prothrombin time(PT),activated partial thromboplastin time(APTT),and reduced coagulation factor Ⅱ activity,and positive lupus anticoagulant(LA).Meanwhile,the patient had symptoms of dry mouth and dry eyes for a long time,and the examination of autoantibodies,tear secretion test and salivary gland emission computed tomography(ECT)were consistent with the diagnosis of Sjogren's syndrome.The final diagnosis was HLAS secondary to Sjogren's syndrome.After treatment with methylprednisolone and cyclophosphamide,the coagulation disorder gradually improved,and no recurrent bleeding occurred.HLAS is a rare clinical case,which reminds medical staff to be alert to the possibility of HLAS when encountering patients with unexplained prolonged APTT and PT and positive lupus anticoagulant.

Objective To investigate clinical and epidemiological features of pneumocystis jirovecii pneumonia (PJP) in kidney transplant recipients. Methods Clinical data of 68 kidney transplant recipients admitted from July, 2021 to December, 2021 were collected. All patients were divided into the PJP group (n=11), common pulmonary infection group (n=24) and non-pneumonia group (n=33) according to the status of pulmonary infection. The incidence and treatment of PJP after kidney transplantation were analyzed. Basic characteristics and laboratory parameters of the recipients were compared among all groups. The genotyping and transmission map of PJP patients were evaluated. Results Among 64 kidney transplant recipients, 11 cases were definitely diagnosed with PJP. The most common clinical manifestations included elevated body temperature, and dry cough complicated with progressive dyspnea. Chest CT scan showed diffuse interstitial inflammation and ground glass-like lesions of bilateral lungs in all patients. After diagnosis, all patients were orally given with compound sulfamethoxazole for 3-4 weeks. Two patients received non-invasive ventilator-assisted ventilation due to severe lung infection and dyspnea, and the remaining patients were given with nasal cannula oxygenation. One patient experienced elevated serum creatinine level upon discharge, and developed renal allograft failure. The remaining 10 recipients with PJP obtained normal renal allograft function, and no recipient died. Compared with the non-pneumonia group, the rejection rate was higher, the length of hospital stay was longer, the lymphocyte count was less, the lymphocyte proportion was lower, the levels of C-reactive protein, serum creatinine and lactate dehydrogenase were higher, and the levels of serum albumin was lower and CD4⁺T cell count was less in the PJP group (all P < 0.05). Compared with common pulmonary infection group, the lymphocyte count was less, the lymphocyte proportion was lower, the CD4⁺T cell count was less and 1, 3-β-D- glucan (BDG) level was higher in the PJP group (all P < 0.05). No new genotype was detected in 10 of the 12 testing samples. It was considered that PJP mainly depended on two transmission chains and two independent transmission individuals. Conclusions Kidney transplant recipients are prone to pneumocystis jirovecii (PJ) infection due to impaired cellular immune function. The most common clinical manifestations consist of elevated body temperature and dry cough complicated with progressive dyspnea, accompanied by headache and fatigue in partial patients. Chest CT scan shows diffuse interstitial inflammation and ground glass-like lesion of bilateral lungs. PJ may be transmitted through respiratory tract. Small-scale PJP might occur in the follow-up outpatient of kidney transplant recipients. Preventive measures should be delivered in a timely manner.

Objective:To investigate the application and effect of frontal-orbital reconstruction and distraction osteogenesis in the treatment of Crouzon syndrome using three-dimensiond reconstruction mold (3D-RM).Methods:Retrospective analysis was performed on the clinical data of children with Crouzon syndrome who were treated in the Department of Burning and Plastic Surgery, Children’s Hospital of Nanjing Medical University from January 2018 to December 2021. These children were divided into two groups. The study group performed fronto-orbital reconstruction combined with distraction osteogenesis using 3D-RM, while the control group performed the surgery without using 3D-RM. Intraoperative blood loss, operation time, duration of hospital stay, complication rate, cranial index, frontal and orbital retraction rate and postoperative frontal and orbital contour were compared between the two groups. The independent sample t-test was used to compare the differences in intraoperative blood loss, operation duration, hospital stay, postoperative cranial index and fronto-orbital retraction rate between the two groups. The Chi-square test was used to compare the differences in the incidence of postoperative complications between the two groups. Results:The study group included 10 children, including 6 males and 4 females, ranging in age from 9 to 37 months, with an average age of 19 months. In the control group, 8 children were included, including 5 males and 3 females, ranging in age from 8 to 46 months, with an average age of 25 months. The study group was followed up for 12 to 36 months, with an average of 18 months, and the head shape was better improved. The control group was followed up for 12 to 30 months, with an average of 18 months. No serious complications occurred and the head deformity was improved. There were no significant differences in intraoperative blood loss, operation duration, hospital stay, cranial index, fronto-orbital retraction rate and complication rate between the two groups (all P>0.05). The forehead shape of the study group was more symmetrical than that of the control group, the difference was statistically significant ( P<0.05). Conclusion:The effect of frontal orbital reconstruction and distraction osteogenesis using 3D-RM in the treatment of Crouzon syndrome is positive, the head shape and orbit are significantly improved. There were no serious complications after operation. It can play a good auxiliary role in the operation.

Objective:To investigate the application and effect of frontal-orbital reconstruction and distraction osteogenesis in the treatment of Crouzon syndrome using three-dimensiond reconstruction mold (3D-RM).Methods:Retrospective analysis was performed on the clinical data of children with Crouzon syndrome who were treated in the Department of Burning and Plastic Surgery, Children’s Hospital of Nanjing Medical University from January 2018 to December 2021. These children were divided into two groups. The study group performed fronto-orbital reconstruction combined with distraction osteogenesis using 3D-RM, while the control group performed the surgery without using 3D-RM. Intraoperative blood loss, operation time, duration of hospital stay, complication rate, cranial index, frontal and orbital retraction rate and postoperative frontal and orbital contour were compared between the two groups. The independent sample t-test was used to compare the differences in intraoperative blood loss, operation duration, hospital stay, postoperative cranial index and fronto-orbital retraction rate between the two groups. The Chi-square test was used to compare the differences in the incidence of postoperative complications between the two groups. Results:The study group included 10 children, including 6 males and 4 females, ranging in age from 9 to 37 months, with an average age of 19 months. In the control group, 8 children were included, including 5 males and 3 females, ranging in age from 8 to 46 months, with an average age of 25 months. The study group was followed up for 12 to 36 months, with an average of 18 months, and the head shape was better improved. The control group was followed up for 12 to 30 months, with an average of 18 months. No serious complications occurred and the head deformity was improved. There were no significant differences in intraoperative blood loss, operation duration, hospital stay, cranial index, fronto-orbital retraction rate and complication rate between the two groups (all P>0.05). The forehead shape of the study group was more symmetrical than that of the control group, the difference was statistically significant ( P<0.05). Conclusion:The effect of frontal orbital reconstruction and distraction osteogenesis using 3D-RM in the treatment of Crouzon syndrome is positive, the head shape and orbit are significantly improved. There were no serious complications after operation. It can play a good auxiliary role in the operation.

To analyze the endoscopic ultrasonography (EUS) and histopathological features of esophageal epithelial malignant tumors misdiagnosed as esophageal submucosal tumors (SMT), data of patients diagnosed as having esophageal SMT preoperatively but confirmed as esophageal epithelial malignant tumor by pathology after operation in Nanjing Drum Tower Hospital from January 2012 to December 2020 were retrospectively analyzed, and the clinical data including age, gender, size and location of the lesion, origin and echo of the lesion under EUS, endoscopic treatment and postoperative pathology were recorded. Among the 11 patients, there were 9 males and 2 females, aged (65.5±6.2) years. The length diameter of 9 lesions was ≤2 cm, and 8 lesions were located in the middle thoracic esophagus. Among the 11 patients, 10 underwent EUS before operation. The lesions originated from submucosa in 6 cases, muscularis propria in 2 cases and muscularis mucosa in 2 cases. The echo of the lesions was hypoechoic in 9 cases and isoechoic in only 1 case. Of the 11 patients, 3 underwent endoscopic mucosal resection, 6 underwent endoscopic submucosal dissection, and 2 underwent submucosal tunneling endoscopic resection. The histopathological types included 3 cases of moderately to poorly differentiated squamous cell carcinoma, 3 cases of basaloid squamous cell carcinoma, 2 cases of adenoid cystic carcinoma (including 1 case of adenoid cystic carcinoma colliding with squamous cell carcinoma), 2 cases of adenocarcinoma, and 1 case of esophageal sarcomatoid carcinoma with basaloid squamous cell carcinoma. Endoscopic manifestations of submucosal eminence in esophageal epithelial malignant tumors are extremely rare. EUS is helpful for differential diagnosis, and diagnostic treatment can make a definite diagnosis.

Objective:To investigate the clinicopathological characteristics and survival of patients with lymphoplasmacytic lymphoma (LPL).Methods:The data of 33 newly diagnosed LPL patients in the First Affiliated Hospital of Dalian Medical University from July 2003 to May 2021 were retrospectively analyzed. The clinical characteristics, bone marrow cell morphology, immunophenotyping, chromosomal karyotype, gene mutation, treatment response and prognosis were analyzed, and Kaplan-Meier method was used to analyze the survival of patients.Results:The median age of onset of 33 patients was 66 years old (55-84 years old). There were 26 males (78.8%) and 7 females (21.2%). The common clinical manifestations were anemia (31 cases, 93.9%), enlarged lymph nodes (16 cases, 48.5%) and B symptoms (8 cases, 24.2%). All patients had bone marrow involvement and M protein, 23 of them (69.7%) were type IgM-κ, 8 cases (24.2%) were type IgM-λ, 1 case (3.0%) was type IgG-κ, and 1 case (3.0%) was type IgA-κ. Lymphocytes, lymphoplasmacytes or plasma cells was increased in bone marrow smear; 22 patients underwent immunophenotyping of bone marrow by flow cytometry, and all patients expressed B cell surface antigens (CD19 and CD20), 16 patients (72.7%) lost the expression of CD5 and CD10, 13 patients (59.1%) expressed or weakly expressed CD138 and 5 patients (22.7%) expressed CD38. Seven out of 23 cases (30.4%) who received chromosome examination had abnormal chromosomal karyotype. Fourteen out of 16 cases (87.5%) who received MYD88 L265P mutation detection harbored the mutation. Among 21 patients with evaluable efficacy, 18 patients (85.7%) responded to treatment, achieving partial remission or stable disease, but the rate of complete remission was low (14.3%, 3/21). The median follow-up time was 34 months (2-102 months), 1 case was lost. The median overall survival time was not reached, and the 3-year and 5-year overall survival rates were 79.2% and 67.9%, respectively.Conclusions:LPL is a rare indolent small B-cell lymphoma with a long course and a variety of manifestations, which is commonly seen in elderly men.Serological examination, bone marrow cell morphology and biopsy, immunophenotyping and MYD88 L265P mutation detection are important for the diagnosis and differential diagnosis.

BACKGROUND: Scleroderma is a multisystem disease in which tissue fibrosis is caused by inflammation and vascular damage. The mortality of scleroderma has remained high due to a lack of effective treatments. However, exosomes derived from human umbilical cord mesenchymal stem cells (HUMSCs)-Ex have been regarded as potential treatments for various autoimmune diseases, and may also act as candidates for treating scleroderma. METHODS: Mice with scleroderma received a single 50 lg HUMSCs-Ex. HUMSCs-Ex was characterized using transmission electron microscopy, nanoparticle tracking analysis and nanoflow cytometry. The therapeutic efficacy was assessed using histopathology, immunohistochemistry, immunofluorescence, quantitative real-time polymerase chain reaction, enzyme-linked immunosorbent assay and western blot. RESULTS: HUMSCs-Ex ameliorated the deposition of extracellular matrix and suppressed the epithelial-mesenchymal transition process, and the effects lasted at least three weeks. In addition, HUMSCs-Ex promoted M1 macrophage polarization and inhibited M2 macrophage polarization, leading to the restoration of the balance of M1/M2 macrophages. CONCLUSION We investigated the potential antifibrotic and anti-inflammatory effects of HUMSCs-Ex in a bleomycininduced mouse model of scleroderma. So HUMSCs-Ex could be considered as a candidate therapy for scleroderma.

Objective:To investigate the clinical effect of mandible distraction combined with concentrated growth factor (CGF) for the treatment of Pierre Robin sequence (PRS).Methods:This retrospective research recruited clinical data of PRS neonates from January 2018 to December 2019 in the Department of Burns and Plastic Surgery, Children’s Hospital of Nanjing Medical University. All cases were divided into CGF group (osteotomy gap filled with CGF gel during distraction osteotomy), and NO-CGF group (no CGF gel used during distraction osteotomy). Bilateral internal distractors, which could be extended by 2 cm, were fixed on mandible after mandible osteotomy. Immediate distraction for 5 mm was performed in all children during the operation. After a latency period of 5 days, the jaw was extended 0.8 to 1.2 mm once a day, and the extension period was 10 to 15 days. The distractors were surgically removed after 3 months of application. Both postoperative extubation time and complications were analyzed.Results:CGF group: the male∶female ratio was 32∶13, with age ranged 3 to 28 days and weight ranged 2.5 to 3.2 kg. NO-CGF group: the male∶female ratio was 40∶15, with age ranged 3 to 28 days and weight ranged 2.6 to 3.3 kg. The total mandibular distraction length was 15 to 20 mm, and no serious complications (such as death or osteonecrosis) were observed during 3 to 6 months postoperative follow-up. 68 cases (30 in CGF group and 38 in NO-CGF group) experienced immediate extubation after surgery, and 32 cases (15 in CGF group and 17 in NO-CGF group) were extubated 4 to 6 days after the operation. For postoperative complications, CGF group (1 case with infection) and NO-CGF group (4 cases with infection, 2 cases of screw loss, 8 cases of delayed bone union, and 4 cases of mandibular retraction) were compared respectively. Statistical significance in the complications of delayed bone union was found between two groups ( P<0.05). Conclusions:Mandible distraction combined with CGF is a promising technique for the management of PRS as evidenced by the low incidence of complications and improved bone union.

Objective:To investigate the safety and therapeutic effect of surgical resection combined with radiofrequency ablation on facial plexiform neurofibroma.Methods:The data of children with neurofibromatosis type Ⅰ treated by surgical excision combined with radiofrequency ablation in the Department of Burn and Plastic Surgery of Children’s Hospital of Nanjing Medical University from April 1, 2016 to April 1, 2020 was retrospectively analyzed. All patients were treated with partial tumor resection and radiofrequency ablation under general anesthesia. During the operation, the tumor body is gradually exposed through the hairline concealed incision. The tumor in the field of vision was removed to the maximum extent. Radiofrequency ablation was performed on distant tumor parts that was visible but inoperable, so as to achieve no residual tumor. Radiofrequency ablation was abandoned if intraoperative exploration revealed tumor invasion of facial nerve, deep fascia and orbit. The maximum output power of the radiofrequency ablation machine used during the operation was 200 W, and the exposed length of the electrode was 3 cm. The radio frequency machine could automatically adjust the power during the ablation process according to the impedance of the tissue to output the optimal energy, and monitor the temperature of the surrounding tissue in real time during the ablation process. The distal tumor body was located by B-ultrasound, penetrated, and ablated by radiofrequency needle. The amount of intraoperative bleeding was estimated, and the postoperative drainage volume, drainage tube placement time and complications were observed and analyzed. The facial nerve injury was evaluated at the time of discharge and the first month after operation. Six months after operation, the scar was evaluated with the patient scar assessment scale (PSAS) in the patient and observer scar assessment scale (POSAS). The measurement data of normal distribution was expressed as Mean±SD.Results:A total of 5 children were included, including 3 males and 2 females, aged from 1 year and 2 months to 6 years and 10 months. The tumors were all located in the facial area. The range of invasion was superficial muscle layer, and the postoperative pathology indicated plexiform neurofibroma. The incision length of 5 patients was (5.4±0.4) cm, the intraoperative bleeding volume was (36.0±4.9) ml, the postoperative drainage volume was (4.2±0.7) ml, and the drainage tube was placed for (2.4±0.5) days. No local infection or skin ulceration occurred after operation, and the body temperature did not fluctuate significantly. Follow-up time ranged from 12 months to 18 months, the median follow-up time was 12 months. At the time of discharge and one month after operation, there was no difficulty in eyebrow lifting in all the patients. In the early postoperative period, the swelling of the operation site was obvious, and the swelling gradually decreased after 40 days at the latest. One child developed local skin cyanosis, which gradually subsided one month after the operation after cold compress. It was considered that it was caused by local subcutaneous slight bleeding. The local scar after operation was slight and concealed, and the PSAS score of the children 6 months after operation was 27.2±4.4. During the follow-up period, the original tumor body was stable, and no progressive enlargement of tumor body was found.Conclusions:Surgical resection combined with radiofrequency ablation for facial plexiform neurofibroma is safe and effective. Compared with traditional surgery, it can reduce local injury and facial changes, and can be used as an auxiliary treatment, but it cannot completely replace the traditional surgery.

Objective:To investigate the effect of intrafrontal-orbital distraction osteogenesis in the treatment for school-aged children with severe proptosis in Crouzon syndrome.Methods:We retrospectively analyzed the clinical data of school-aged children with Crouzon syndrome treated with intrafrontal orbital distraction osteotomy at the Children’s Hospital of Nanjing Medical University from January 2016 to February 2021, and counted and analyzed the clinical results, complications (cerebrospinal fluid leakage, infection, etc.), and surgical safety.Results:A total of 12 children, 9 males and 3 females, aged 6-12.1 years, with an average age of 7.1 years, were included; 4 were cranial, 6 were craniofacial, and 2 were other types. All were shown with obvious proptosis. The surgical procedure was successful. Follow-up ranged from 3 to 20 months, with a mean of 14 months. The postoperative distraction distance was (19.1±3.3) mm, ranging from 15.2 to 25.6 mm. And the mean cranial index (CI) before and after surgery were 97.5% and 80.0%, respectively, with good craniofacial appearance and better improvement of proptosis and posterior cranial flattening. There were no other complications but for one child with infection at the external site of the distraction rod.Conclusions:The effect of frontal-orbital distraction osteotomy in the treatment of Crouzon syndrome with severe proptosis in school-aged children was positive, with significant improvement in proptosis and low incidence of postoperative cerebrospinal fluid leakage and infection. This procedure is a good choice for older children with severe proptosis.