Waardenburg syndrome is a rare genetic disease of auditory pigmentation. The main symptom is sensorineural hearing loss. Pigment disorders and other developmental defects in skin, hair, iris, fundus and other parts are specifically divided into four different subtypes, each of which corresponds to different pathogenic genes, which encode transcription factors and signaling molecules that play a key role in the development process of neural crest cells into melanocytes. Because there are multiple subtypes of Waardenburg syndrome, different subtypes exhibit different symptoms, signs and ocular manifestations. Patients with Waardenburg syndrome are often first treated in ENT head and neck surgery due to hearing loss. Lack of theoretical knowledge related to Waardenburg syndrome by ophthalmologists may lead to misdiagnosis or missed diagnosis. Although there are currently limited treatments for the disease, with the continuous development of gene therapy and hearing management methods, the future treatment prospects will be broader.
To explore related factors of cubital tunnel syndrome caused by cubitus valgus deformity so as to provide theoretical basis for the cl inical treatment. Methods Between June 2002 and September 2008, 40 patients with cubital tunnel syndrome caused by cubitus valgus deformity underwent anterior subcutaneous ulnar transposition. Related factors wasanalysed through logistic regression analysis using scoring standard recommended by Yokohama City University. Results All 40 patients were followed up 27.5 months on average (range, 12-75 months). The duration of cubitus valgus deformity, cubitus valgus deformity angle, and the duration of paraesthesia and muscular atrophy were identified as related factors for ulnar neuropathy and the odds ratios were 1.005 (P=0.045), 9.374 (P=0.000), and 4.358 (P=0.010), respectively. The related prognosis factors were duration of paraesthesia and muscular atrophy, deformity angle, and age at surgery, with odds ratios of 8.489 (P=0.000), 2.802 (P=0.030), and 4.611 (P=0.031), respectively. Conclusion Related factors for ulnar neuropathy are durations of cubitus valgus deformity, cubitus valgus deformity angle, and duration of paraesthesia and muscular atrophy. Related factors for prognosis include age at surgery, cubitus valgus deformity angle, and duration of muscular atrophy. Early anterior subcutaneous ulnar transposition should be performed in patients with cubital tunnel syndrome caused by cubitus valgus deformity
Objective To explore the efficacy of prone positioning ventilation in patients with acute respiratory distress syndrome (ARDS) after acute Stanford type A aortic dissection (STAAD) surgery. Methods From November 2019 to September 2021, patients with ARDS who was placed prone position after STAAD surgery in the Xiamen Cardiovascular Hospital of Xiamen University were collected. Data such as the changes of blood gas, respiratory mechanics and hemodynamic indexes before and after prone positioning, complications and prognosis were collected for statistical analysis. ResultsA total of 264 STAAD patients had surgical treatment, of whom 40 patients with postoperative ARDS were placed prone position. There were 37 males and 3 females with an average age of 49.88±11.46 years. The oxygen partial pressure, oxygenation index and peripheral blood oxygen saturation 4 hours and 12 hours after the prone positioning, and 2 hours and 6 hours after the end of the prone positioning were significantly improved compared with those before prone positioning ventilation (P<0.05). The oxygenation index 2 hours after the end of prone positioning which was less than 131.42 mm Hg, indicated that the patient might need ventilation two or more times of prone position. Conclusion Prone position ventilation for patients with moderate to severe ARDS after STAAD surgery is a safe and effective way to improve the oxygenation.
Objective To develop a multidisciplinary nursing program for Prader-Willi syndrome with spinal deformity and evaluate its effectiveness in clinical practice. Methods In July 2016, a multidisciplinary collaborative team was established before the treatment of children with Prader-Willi syndrome complicated with spinal deformity. For the nursing difficulties in the perioperative period, relevant literature was consulted, and a multidisciplinary collaborative nursing plan was formulated, which included nutrition management and blood glucose control, management of obstructive sleep apnea hypopnea syndrome, behavioral intervention related to mental change, and early identification and management of complications. The developed multidisciplinary collaborative nursing program was applied to three children with Prader-Willi syndrome complicated with spinal deformity in Peking Union Medical College Hospital from July 2016 to October 2018, and their postoperative recovery was evaluated. Results One child had inguinal skin ulceration when admitted to hospital, which was significantly improved after active treatment. The perioperative blood glucose level control of the three children was satisfactory, and there was no postoperative gastrointestinal dysfunction, deep wound infection, respiratory complications, internal fixation failure or other complications, and no asphyxia, fall, loss, or other adverse events. The follow-up compliance after discharge was 100%. Conclusions Multidisciplinary collaboration programs can escort patient’ safety and promote their recovery, improve the professional level of nursing staff, and reflect the nursing value. As a working mode, it can be further popularized and used for reference in the nursing of other difficult diseases.
【Abstract】ObjectiveTo review recent studies on Muir-Torre syndrome (MTS) and to improve the knowledge about MTS.MethodsThe literatures in recent years on clinic and gene research of MTS were reviewed.ResultsMTS was is a rare autosomal-dominant disorder characterized by the predisposition to both sebaceous tumors (or multiple keratoacanthomas) and internal malignancies. Gastrointestinal cancers were the most common kind of internal malignancies in MTS patients(61%)，followed by genitourinary cancers(22%). In most cases(56%)，sebaceous tumors appeared after the emergence of internal maliganancy. Both hereditary nonpolyposis colorectal cancer(HNPCC) and MTS were caused by germline mutations in the DNA mismatch repair genes. MTS patients exhibit significantly more mutations in the hMSH2 than in the hMLH1. In these cases , both internal and skin tumors showed the characteristic of high microsatellite instability(MSI).ConclusionThe presence of sebaceous tumors(or multiple keratoacanthomas) necessitates the search for internal malignancies. It is mandatory that patients with MTS, as patients with HNPCC, should be regularly followed up to search new malignancies. Evaluation and monitoring of the family members of patients are also necessary. The patients and their families should be counseled for genetic test. Sequencing the hMSH2 gene should be the prior selection of further examinations when clinical manifestations, history and laboratory tests suggest MTS.
ObjectiveTo analyze the sensitivity and specificity of polymerase chain reaction (PCR) tests in the detection of cytomegalovirus (CMV) in the diagnosis of patients with acquired immune deficiency syndrome (AIDS), using aqueous humor samples.
Methods25 AIDS patients (including 21 men and 4 women) were studied. The age of the patients varied from 24 to 59 years, with an average of (39.2±9.3) years. The CD4+ T cell count was from 1 to 523 cells/μl, with a medium of 40 cells/μl. They were infected with human immunodeficiency virus(HIV)for a period from 15 days to 9 years with a median of 10 months. They were divided into three groups according to the fundus and treatment, including untreated cytomegalovirus retinitis (CMVR), treated CMVR and control group. There were 10 patients without anti-CMV treatment and 7 patients treated previously with foscarnet or ganciclovir whose eyes were diagnosed CMVR. Control group has 8 patients who had normal fundus or minor retinopathy excluded from CMVR. Approximately 100 μl of aqueous humor was obtained by anterior-chamber paracentesis and PCR was performed in all cases.
ResultsThere were CMV DNA in 9 of 10 eyes with untreated CMVR (90.0% sensitivity). Of 7 specimens from eyes with treated CMVR, 3 were CMV PCR positive (42.9% sensitivity). All 8 samples of the control group were negative for CMV DNA, indicating the clinical specificity of our PCR was greater than 99.9% for CMVR. The anterior chamber paracentesis did not cause any complications in our patients except for a patient with subconjunctival hemorrhage.
ConclusionsThe assay had an estimated sensitivity of 90.0% in detecting untreated CMVR and a sensitivity of 42.9% in detecting CMVR that had been treated. The specificity of this assay was greater than 99.9%.
Objective Exploring the correlation between intravesical pressure (IP) and diaphragm excursion (DE) in patients with severe acute pancreatitis (SAP) and acute respiratory distress syndrome (ARDS), and evaluating its predictive value for weaning outcomes. Methods A retrospective analysis was conducted on the clinical data of 144 SAP patients with ARDS admitted between 2020 and 2023. By collecting the outcome of weaning, collect data on gender, age, acute physiology and chronic health score II (APACHE II), oxygenation index, and IP and DE before weaning and extubation for all patients. Based on weaning outcomes, divide patients into successful and failed groups, and compare the differences in various indicators between the two groups; Use binary logistic regression to analyze whether IP and DE are risk factors affecting weaning in SAP patients with ARDS, and use Pearson correlation analysis to examine the correlation between IP and DE; Use receiver operating characteristic curve (ROC curve) to analyze the predictive value of IP and DE on weaning outcomes in SAP patients with ARDS. ResultsA total of 144 SAP patients with ARDS were included, of which 108 were successfully weaned and 36 were unsuccessful. There were no statistically significant differences in gender, age, and APACHE II scores between the successful and failed groups (males: 62.96% (68/108) compared to 69.44% (25/36), age (years): 41.91 ± 8.14 compared to 42.42 ± 6.22, APACHE II score (points): 18.28 ± 2.22 compared to 18.97 ± 1.83, P>0.05). The IP of the successful group was significantly lower than that of the failed group, and the DE was significantly higher than that of the failed group [IP (mmHg): 18.45 ± 3.76 compared to 23.92 ± 5.65, DE (mm): 16.18 ± 4.23 compared to 12.28 ± 4.44, all P<0.05]. All patients showed a significant negative correlation between IP and DE (r=–0.457, P<0.001). ROC curve analysis showed that the area under the curve (AUC) of IP predicting the withdrawal outcome of SAP patients with ARDS was 0.805, with a 95% confidence interval (95%CI) of 0.724-0.885 and P<0.001. When the cutoff value was 19.5 mmHg, the sensitivity was 91.57% and the specificity was 47.54%; The AUC for predicting the withdrawal outcome of SAP patients with ARDS by DE was 0.738, with a 95%CI of 0.641-0.834 and P<0.001. When the cutoff value was 11.5 points, the sensitivity was 84.82% and the specificity was 59.38%. Conclusions There is a significant negative correlation between IP and DE in SAP combined with ARDS patients, and both have certain predictive value for weaning outcomes.
Objective To summarize the technique and indication of total corrective operation of Budd-Chiari syndrome by open angioplasty. Methods Twelve patients of Budd-Chiari syndrome from November 1997 to September 1999 treated by total open angioplasty were studied. Results About 1 500-2 580ml self-blood was recycled and transfused during the operation. Bank-blood was not required to patients, except one who experienced second thoracectomy for hemostasis after the operation. The pressure of inferior vena cava declined obviously and no complication occurred after operation. All patients were cured. Ultrasonic examination was performed six months after operation and no reocclusion of inferior vena cava was found in these patients.Conclusion Total corrective operation by open angioplasty is efficacy to treat Budd-Chiari syndrome. Controlling hemorrhage of inferior vena cava to maintain a clear operation field is the key to success of operation.
Objective
To retrospectively analyze the emergency complications of the patients after oocyte retrieval with assisted reproductive technology (ART), and analyze the corresponding strategies.
Methods
The clinical data of patients after oocyte retrieval with ART between January and December 2016 were retrospectively anayzed. The postoperative emergency complications were observed.
Results
A total of 5 013 patients were included in the study. The common emergency complications after oocyte retrieval included vaginal bleeding in 137 cases (2.73%) , ovarian hyperstimulation syndrome (OHSS) in 35 (0.69%), hematuria caused by bladder injury in 11 cases (0.21%), pelvic infection in 3 (0.06%), and vagal reflex in 2 (0.04%). OHSS was related to age, the number of basal follicles, the number of oviposaccharides and the estradiol level on the day of human chorionic gonadotropin injection, but not related to the body mass index and the number of days of gonadotropin use; which might be misdiagnosed most likely.
Conclusions
OHSS is one of the common and severe emergency complications after oocyte retrieval with ART, which should be concerned. Active treatment of complications is helpful to reduce the incidence of emergency complications after oocyte retrieval with ART.
Objective The effects of endotoxin, cytokines, nitric oxide were reviewed in the development of hyperdynamic circulatory syndrome in portal hypertension. Methods Liceratures of overseas main studies in hyperdynamic circulatory syndrome of portal hypertension in recent 10 years were reviewed. Results The hyperdynamic circulatory syndrome was found in 30%-50% of patients with cirrhosis and in all animal models of portal hypertension. The research results of the effects of endotoxin, cytokines, nitric oxide in the development of hyperdynamic circulatory syndrome were different. Conclusion Hyperdynamic circulatory syndrome contribute to the maintenance and aggregation of portal hypertension. Endotoxin, cytokines, nitric oxide may play a role in the development of hyperdynamic circulatory syndrome. Nitric oxide is a more important factor. The effect of other factors is probably mediated by nitric oxide.
