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.

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 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.

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.

As an important branch of artificial intelligence, machine learning is widely used in various fields. Machine learning has similarity to classical statistical methods, but can solve many problems which are difficult for traditional statistics, so it is one of the important tools in epidemiological research. This paper introduced 9 common algorithms of machine learning and summarized their characteristics and applications in epidemiological research. Readers could choose appropriate machine learning method according to the research purpose for the better application of machine learning in epidemiological research.

Objective:To explore the underlying genetic causes of neonatal encephalopathy complicated with perinatal asphyxia.Methods:From the neonates recruited to the Neonatal Genome Project of Children′s Hospital of Fudan University between January 2016 and January 2019, 113 neonates with neonatal encephalopathy and acute peripartum or intrapartum event or Apgar score ≤7 were enrolled in this study. The clinical data, laboratory results, the findings of electroencephalograph and magnetic resonance imaging or head ultrasound, and the genetic information were retrospectively analyzed.Results:Of the 133 neonates with neonatal encephalopathy and acute peripartum or intrapartum event or Apgar score ≤7 scores, 77 (57.9%) were males, 56 (42.1%) were female, 56 (42.1%) were delivered via cesarean section, and 77(57.9%) were born by vaginal delivery. Among these cases, 68 (51.1%) were diagnosed of hypoxic ischemic encephalopathy, 25 (18.8%) had intracranial hemorrhage, 20 (15%) were related to genetic diseases, and 5 (3.8%) had sepsis without central nervous infection. A total of 20 cases with positive results by next-generation sequencing test were identified, including 19 cases with pathogenic variations and 1 case with variation of uncertain significance. These 20 cases included 4 cases with congenital myopathy (2 cases of MTM1 gene pathogenic variants, 1 case of ACTA1 and 1 case of RYR1 gene pathogenic variants), 4 cases with genetic syndrome (2 cases of CHD7 gene pathogenic variants, 1 case of PTN11 gene pathogenic variant, and 1 case of NSDHL gene pathogenic variant), 3 cases with metabolic disorders (1 case of OTC gene pathogenic variant, 1 case of MTHFR gene pathogenic variant, and 1 case of ALDH7A1 gene pathogenic variant), 2 cases with epileptic encephalopathy (1 case of KCNT1 and 1 case of PACS2 gene pathogenic variants), 1 case with congenital central hypoventilation syndrome (PHOX2B gene pathogenic variant) and 6 cases with copy-number pathogenic variations. Among these 20 cases, 8(40.0%) neonates were presented with persistent hypotonia, 7(35.0%) neonates with seizures, and 5(25.0%) neonates with congenital malformation. Genetic counseling and further follow-up were performed or suggested for these 20 cases; 4 neonates were deceased, 10 neonates underwent palliative care, and 6 neonates were improved after supportive care and their further follow-up plan were performed in clinics.Conclusions:Genetic diseases are not rare in neonates with neonatal encephalopathy complicated with perinatal hypoxia event. The common causes in these neonates include congenital myopathy, metabolic disorders, genetic syndrome, and epilepsy encephalopathy.