OBJECTIVE: To explore the effectiveness of mini external fixators combined with bone cement spacers in the treatment of gouty hallux rigidus with bone defects. METHODS: A retrospective analysis was conducted on the clinical data of 21 male patients diagnosed with gouty hallux rigidus and bone defects, treated with mini external fixators combined with bone cement spacers between January 2017 and December 2024. The age ranged from 35 to 72 years, with an average age of 61.1 years. The disease duration was 12-35 years, with an average of 18.2 years. The American College of Rheumatology (ACR) gout score ranged from 16 to 23, with an average of 18.6. All 21 cases of hallux rigidus were classified as grade 3 according to the Coughlin classification. Clinical efficacy was evaluated preoperatively and at 6 months postoperatively using the visual analogue scale (VAS) score for pain, the dorsiflexion angle of first metatarsophalangeal joint in a weight-bearing state, and the American Orthopaedic Foot & Ankle Society (AOFAS) score. Radiological evaluation was performed by measuring the hallux valgus angle (HVA) using weight-bearing X-ray films and the tophi volume using dual-energy CT. RESULTS: The operation time ranged from 30 to 56 minutes, with an average of 42.05 minutes. The intraoperative blood loss varied between 10 and 30 mL, averaging 20 mL. All 21 patients were followed up 6-15 months, averaging 9.3 months. One patient experienced delayed wound healing due to the liquefaction of residual tophus; no other patients exhibited complications such as wound or pin tract infections, skin necrosis, fractures, or metastatic metatarsalgia. Six patients experienced acute gout attacks 4-7 days postoperatively, which were effectively alleviated through symptomatic treatment. At 6 months after operation, patients showed significant improvements in HVA, tophus volume, VAS scores, AOFAS scores, and the dorsiflexion angle of first metatarsophalangeal joint compared to preoperative values, with significant differences ( P<0.05). CONCLUSION Mini external fixator combined with a cement spacer is an effective treatment for gouty hallux rigidus with bone defects.
Humans ; Male ; Middle Aged ; External Fixators ; Adult ; Retrospective Studies ; Hallux Rigidus/diagnostic imaging* ; Bone Cements/therapeutic use* ; Aged ; Treatment Outcome ; Metatarsophalangeal Joint/surgery*

Objective:To improve the understanding of patients with diffuse large B-cell lymphoma (DLBCL) with pulmonary cryptococcosis.Methods:The clinical data of 1 DLBCL patient with pulmonary cryptococcosis in the Central Hospital of Fengxian District of Shanghai in May 2023 were retrospectively analyzed, and the relevant literatures were reviewed.Results:This 75-year-old female patient was asymptomatic after 2 cycles of R-CHOP chemotherapy. The high-resolution CT of lung showed that lung nodules were progressively enlarged. Antibacterial treatment was ineffective. Pulmonary cryptococcosis was confirmed by bronchoalveolar lavage fluid (BALF) targeted high-throughput sequencing (tNGS) and cryptococcus capsular antigen (CrAg) detection. The central nervous system was not involved. And the long-term adequate-dose fluconazole was prescribed for 6 months, and the treatment against lymphoma was given synchronously. The lung nodule lesions reduced after antifungal therapy for 1 month. The lung nodules disappeared after the follow-up of 6 months after completion of final chemotherapy. The evaluation of lymphoma indicated complete remission.Conclusions:Pulmonary cryptococcosis occurs insidiously and shows no specific symptoms; its imaging manifestations are variable and routine anti-infection is ineffective. Immunochemotherapy for lymphoma patients is a high-risk factor for cryptococcal infection. tNGS and CrAg testing for BALF are effective methods of the confirmed diagnosis. The early and long-term adequate-dose antifungal treatment is the key to preventing the recurrence or progression.

Objective This study aimed to explore the differences and influencing factors of static teeth exposure in different postures of orthognathic surgery patients.Methods A total of 148 patients were collected before or after or-thognathic surgery.Photographs were taken in the upright and supine positions,and the static teeth exposure values were measured to compare whether the difference among different positions was statistically significant.The patients were classified in accordance with gender,presence or absence of orthodontic brackets,measurement time(preoperative or postoperative),and maxillary movement direction(forward or backward),and the difference of static teeth exposure was compared.The correlation between the difference of static teeth exposure and age was analyzed.Results The diffe-rence of static teeth exposure between the two positions was 0.99 mm±0.95 mm,which was statistically significant(P=0.000).A statistical difference in the difference of static exposure was observed between female and male(P<0.05).No statistical difference in the difference of static expo-sure was observed among orthodontic brackets,preopera-tive or postoperative time points,and maxillary move-ment direction.In addition,no significant correlation was found between the difference of static teeth exposure and age(r=-0.087,P=0.291).Conclusion Compared with the upright position,the static exposure of teeth increased by ap-proximately 0.99 mm in the supine position.The difference of static exposure under different postures was greater in males than in females.Furthermore,orthodontic bracket,maxillary surgery,maxillary movement direction,and age had no effect on the difference of static teeth exposure in different postures.

  Objective  To summarize the clinical features of a family with Basan syndrome and to analyze mutation of the SMARCAD1 gene.  Methods  The Basan family was diagnosed at Dermatology Hospital, Southern Medical University in 2022. Backgroud data was collected, and clinical and genetic characteristics were analyzed. Meanwhile, a retrospective analysis of features and associated genetic mutations reported in all patients with Basan syndrome was conducted.  Results  A total of 18 patients with Basan syndrome were identified, including 9 males and 9 females. All 18 patients had no fingerprints at birth (18/18, 100%), and some patients had knuckle pads, palmoplantar hyperkeratosis, nail atrophy, nail separation, and longitudinal nail ridges. Symptoms vary in severity. At the same time, it was found that c.-10+1G > T (as well as c.378+1G > T)mutations appeared on the intron 1 of the SMARCAD1 (NM_020159.5) gene in 7 patients, resulting in abnormal splicing.  Conclusions  This article provides help for the early diagnosis of Basan syndrome and helps to improve the diagnosis and differentiation level of clinicians.

Objective:To explore the effect of mindfulness-based stress reduction (MBSR) in pregnant women with abnormal fetal induced labor and their spouses.Methods:From August 2020 to October 2021, 80 pregnant women with abnormal fetal labor admitted to the Second Affiliated Hospital of Wenzhou Medical University were selected as study subjects by convenient sampling. The control group was treated with routine nursing, and the observation group was treated with MBSR. The scores of Hamilton Depression Scale (HAMD) , Hamilton Anxiety Scale (HAMA) and Family Adaptability and Cohesion Evaluation Scale Ⅰ-Chinese Version (FACES Ⅰ-CV) before and after intervention were compared between the two groups.Results:There were no significant differences in HAMD and HAMA scores between the two groups before intervention ( P>0.05) . After intervention, the scores of HAMD and HAMA of pregnant women and their spouses in the observation group were significantly lower than those in the control group, with statistically significant differences ( P<0.05) . There was no statistically significant difference in FACESⅠ-CV score between the two groups before intervention ( P>0.05) . After intervention, the score of FACESⅠ-CV in the observation group was higher than that in the control group, with a statistically significant difference ( P<0.05) . Conclusions:MBSR can effectively reduce the anxiety and depression of pregnant women with abnormal fetal induced labor and their spouses, and can also improve the family cohesion and adaptability of pregnant women.

Objective:To study the levels and variation of equilibrium factor in indoor environment.Methods:A one-year continuous measurement of radon concentration and equilibrium equivalent radon concentration was carried out in an indoor office building of Nanning city. The effective data acquisition rates of radon gas and radon progeny were 99.9% and 86.7%, respectively.Results:The annual average activity concentration and equilibrium equivalent radon concentration in indoor environment were (50.9±20.7)and (15.5±10.1)Bq/m 3, both of which had the same diurnal and seasonal variation. The average annual value of equilibrium factor was 0.30±0.12, showing no obvious diurnal variation. The distribution of monthly mean value of equilibrium factor showed a similar trend to that of radon and radon progeny. The highest and the lowest value appeared in November and June, respectively, with 0.47±0.24 and 0.19±0.06. Conclusions:Due to the large variation range of monthly mean value of equilibrium factor in indoor environment, when annual effective dose of radon exposure was estimated based on radon gas concentration, attention should be paid to choose the quantity value of equilibrium factor and the uncertainty caused by the change of equilibrium factor should be considered.

Humans ; Infant, Newborn ; Intensive Care Units, Neonatal ; Logistic Models ; Phenotype ; Risk Factors

Electrocardiogram (ECG) can visually reflect the physiological electrical activity of human heart, which is important in the field of arrhythmia detection and classification. To address the negative effect of label imbalance in ECG data on arrhythmia classification, this paper proposes a nested long short-term memory network (NLSTM) model for unbalanced ECG signal classification. The NLSTM is built to learn and memorize the temporal characteristics in complex signals, and the focal loss function is used to reduce the weights of easily identifiable samples. Then the residual attention mechanism is used to modify the assigned weights according to the importance of sample characteristic to solve the sample imbalance problem. Then the synthetic minority over-sampling technique is used to perform a simple manual oversampling process on the Massachusetts institute of technology and Beth Israel hospital arrhythmia (MIT-BIH-AR) database to further increase the classification accuracy of the model. Finally, the MIT-BIH arrhythmia database is applied to experimentally verify the above algorithms. The experimental results show that the proposed method can effectively solve the issues of imbalanced samples and unremarkable features in ECG signals, and the overall accuracy of the model reaches 98.34%. It also significantly improves the recognition and classification of minority samples and has provided a new feasible method for ECG-assisted diagnosis, which has practical application significance.
Algorithms ; Arrhythmias, Cardiac/diagnosis* ; Electrocardiography ; Humans ; Memory, Short-Term ; Neural Networks, Computer ; Signal Processing, Computer-Assisted

Objective:To investigate the clinical and genetic features of 3-methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome(MEGDHEL syndrome) caused by SERAC1 gene variation. Methods:This study retrospectively described the clinical and molecular features and prognosis of a baby boy who was transferred to Children's Hospital of Fudan University and later diagnosed with MEGDHEL syndrome in August 2016. A summary of the clinical and genetic manifestations of MEGDHEL syndrome cases reported in China and foreign areas was conducted through a literature review.Results:(1) Case report: The 2-day-old patient was transferred to Children's Hospital of Fudan University due to hyperlactic acidemia after birth. Physical examination revealed scattered petechiae and ecchymoses of the skin. Laboratory examination showed coagulation disorders and cranial MRI revealed abnormal signals in both basal ganglia. A homozygous variation of c.442C>T(p.Arg148*) in the SERAC1 gene was detected in the patient, which is a pathogenic variant included in the Human Gene Mutation Database. Both of his parents were heterozygous carriers, thereby the diagnosis of MEGDHEL syndrome was confirmed. Followed up to the age of three years and 11 months, he was found to have psychomotor retardation, spasticity, dystonia, deafness, and loss of language ability. (2)Literature review: Together with the case reported in this study, a total of 88 cases were retrieved, involving 57 different variants. The clinical features were homogenous, with onset mostly in the neonatal period (72%, 62/86), and severe reversible liver dysfunction (49%, 38/77) and neonatal hypoglycemia (44%, 35/80) were the main features. Nervous system was affected since infancy and common symptoms, included hypotonia (86%, 68/79), progressive spasticity (82%, 67/82), dystonia (80%, 66/82), intellectual disability (88%, 58/66) and sensorineural hearing impairment (74%, 59/80). Furthermore, bilateral basal ganglia involvement on cranial MRI (93%,70/75) and 3-methylglutaconic aciduria (98%,80/82) were also seen. Supportive care is currently the main management, however, the prognosis is extremely poor. Conclusions:MEGDHEL syndrome should be highly suspected when reversible neonatal liver dysfunction or hypoglycemia of unknown reasons in neonatal period, followed by progressive deafness-dystonia syndrome in infancy. As the prognosis of these patients is usually poor, genetic testing may provide an early diagnosis in neonatal period.

In this study, we reported a patient with neonatal-onset Schaaf-Yang syndrome (SYS). The girl was the second singleton child of a healthy, nonconsanguineous couple. She suffered from hypoxic asphyxia at birth and soon developed persistent respiratory distress. She was also diagnosed with neonatal encephalopathy, congenital heart disease, pneumonia, sepsis, neonatal jaundice, congenital laryngeal achondroplasia, and paralysis of vocal cord were diagnosed after admission. She spent the first one month of life in the neonatal intensive care unit and was treated with mechanical ventilation, nutritional support and anti-infectives. Then the baby was discharged as her parents' request and died of respiratory failure at the age of 2 months. Whole exome sequencing detected, a heterozygous nonsense mutation of c.1912C>T(p.Q638X) in MAGEL2 in the fetus, which was inherited from her father but not found in her mother.