OBJECTIVES: To study clinical manifestations and gene mutation features of neonates with centronuclear myopathy. METHODS: A retrospective analysis was conducted on the medical data of 5 neonates with centronuclear myopathy diagnosed in the Neonatal Intensive Care Unit of Children's Hospital, Zhejiang University School of Medicine from January 2020 to August 2024. The data included gender, gestational age, birth weight, Apgar score, clinical manifestations, creatine kinase level, electromyography, genetic testing results and the outcomes of the infants. RESULTS: All 5 male neonates had a history of postpartum asphyxia and resuscitation. They all presented with hypotonia, myasthenia, and respiratory failure; two neonates also had swallowing dysfunction. Of the five neonates, three had normal creatine kinase levels, while two had slightly elevated levels. Electromyography was performed for three neonates, among whom two had myogenic damage. MTM1 gene mutations were identified by genetic testing in all five neonates, including two nonsense mutations and three missense mutations, among which one variant had not been previously reported. Four mutations were inherited from the mother, and the other one was a de novo mutation. The five neonates showed no clinical improvement following treatment, failed weaning from mechanical ventilation, and ultimately died after withdrawal of life-sustaining therapy. CONCLUSIONS Centronuclear myopathy caused by MTM1 gene mutation often has a severe phenotype and a poor prognosis, and it should be considered for neonates with hypotonia and myasthenia after birth. Genetic testing should be performed as soon as possible.
Humans ; Myopathies, Structural, Congenital/genetics* ; Male ; Infant, Newborn ; Retrospective Studies ; Mutation ; Female ; Protein Tyrosine Phosphatases, Non-Receptor/genetics*

Odontogenic maxillary sinusitis(OMS)is a subtype of maxillary sinusitis(MS).It is actually inflammation of the maxillary sinus that secondary to adjacent infectious maxillary dental lesion.Due to the lack of unique clinical features,OMS is difficult to distinguish from other types of rhinosinusitis.Besides,the characteristic infectious pathogeny of OMS makes it is resistant to conventional therapies of rhinosinusitis.Its current diagnosis and treatment are thus facing great difficulties.The multi-disciplinary cooperation between otolaryngologists and dentists is absolutely urgent to settle these questions and to acquire standardized diagnostic and treatment regimen for OMS.However,this disease has actually received little attention and has been underrepresented by relatively low publication volume and quality.Based on systematically reviewed literature and practical experiences of expert members,our consensus focuses on characteristics,symptoms,classification and diagnosis of OMS,and further put forward multi-disciplinary treatment decisions for OMS,as well as the common treatment complications and relative managements.This consensus aims to increase attention to OMS,and optimize the clinical diagnosis and decision-making of OMS,which finally provides evidence-based options for OMS clinical management.

Background Drinking water contains a variety of chemicals that may pose certain health risks to the human body. Objective To evaluate carcinogenic and non-carcinogenic health risks of chemical pollutants in drinking water in Nanjing from 2014 to 2022. Methods According to the Standard examination methods for drinking water (GB/T 5750-2006) and the Standards for drinking water quality (GB 5749-2006), the conventional water quality indexes of finished water, tap water, and secondary water supply in Nanjing from 2014 to 2022 were monitored. The health risk assessment model recommended by the United States Environmental Protection Agency (US EPA) was used to assess the health risks of 16 chemicals [arsenic, cadmium, chromium (hexavalent), lead, mercury, selenium, cyanide, fluoride, nitrate nitrogen, trichloromethane, carbon tetrachloride, aluminum, iron, manganese, copper, and zinc] in drinking water through different routes (drinking water and skin contact) in different populations (adult males, adult females, and children). Region (urban and rural), water period (dry period and wet period), and water sample type (finished water, tap water, and secondary water supply) were stratified for analysis. Results From 2014 to 2022, a total of 4198 samples of drinking water were monitored in Nanjing, including 483 samples of finished water, 3313 samples of tap water, and 402 samples of secondary water supply. The pass rates of all indicators were above 99%. The health risk assessment results showed that the carcinogenic/non-carcinogenic risks of arsenic and lead presenting a trend of first increasing from 2015 and 2016 respectively, remaining relatively high for 3 and 4 consecutive years respectively, and then decreasing from 2018 and 2020 respectively before remaining stable; the carcinogenic risk of cadmium was much higher than that of other chemicals, and the risk was greater than 1.00×10⁻⁴ except for 2018 and 2019. The non-carcinogenic risks of drinking water in different populations (adult males, adult females, and children) under different exposure modes (intake of drinking water and skin contact) were less than 1. The values of carcinogenic risk via drinking water in total population and of cadmium intake via drinking water in all sub-groups (adult males, adult females, and children) were greater than 1.00×10⁻⁴. The carcinogenic/non-carcinogenic risk of drinking water was the highest in children, and the carcinogenic/non-carcinogenic risk via drinking water ingestion was higher than that via skin contact. The stratified analysis showed that the carcinogenic/non-carcinogenic risks of arsenic and cadmium in urban drinking water were higher than those in rural drinking water (P<0.05); the carcinogenic/non-carcinogenic risks of arsenic and trichloromethane in wet season were higher than those in dry season (P<0.05); the carcinogenic risks of cadmium in different types of water were all greater than 1.00×10⁻⁴; the health risks varied by chemicals and water sample types for the other chemicals, but all were within an acceptable level. Conclusion The non-carcinogenic risks and carcinogenic risks of selected chemical pollutants in drinking water in Nanjing City from 2014 to 2022 show decreasing or stable trends. Among the 16 chemicals, the carcinogenic risk of cadmium exceeds the acceptable range recommended by the US EPA, and the carcinogenic/non-carcinogenic risks of the remaining chemicals are within the acceptable ranges. Cadmium should be given priority attention in future risk management of drinking water.

Objective: To investigate the quality and influencing factors of direct drinking water in schools in Nanjing City, so as to provide basis for management of school drinking water. Methods: From April to July 2023, direct drinking water equipment from 146 primary and secondary schools were selected from Nanjing City using a stratified random sampling method and tested for colony forming units (CFU) and permanganate index. Mann-Whitney U test was used to compare the differences between groups, and multiple linear regression was used to analyze the influencing factors. Results: The CFU and permanganate levels of school direct drinking water in Nanjing City were 1.00(0.00,15.50)CFU/mL and 0.47(0.26, 0.75)mg/L, respectively. The CFU level increased when the filter replacement time exceeded 3 months and when the water source was piped, while the permanganate index increased when the filter replacement time exceeded 3 months and using activated carbon technology ( Z =-2.21, -3.92, -2.31, -8.45 , P <0.05). The results of multiple linear regression analysis showed that the replacement time of filter element exceeding 3 months was positively correlated with the CFU level, and the process type involving activated carbon, a laid pipe network and a filter replacement time exceeding 3 months were positively correlated with the permanganate index( β =167.08, 0.32, 0.35, 0.11, P ＜0.05). Conclusions There are certain problems with the water quality of primary and secondary school direct drinking water in Nanjing City. Schools should promptly replace the filter and maintain the drinking water equipment to ensure the hygiene and safety of campus water quality.

Background In mainland China, patients with neovascular age-related macular degeneration (nAMD) have approximately an 40% prevalence of polypoidal choroidal vasculopathy (PCV). This disease leads to recurrent retinal pigment epithelium detachment (PED), extensive subretinal or vitreous hemorrhages, and severe vision loss. China has introduced various treatment modalities in the past years and gained comprehensive experience in treating PCV.Methods A total of 14 retinal specialists nationwide with expertise in PCV were empaneled to prioritize six questions and address their corresponding outcomes, regarding opinions on inactive PCV, choices of anti-vascular endothelial growth factor (anti-VEGF) monotherapy, photodynamic therapy (PDT) monotherapy or combined therapy, patients with persistent subretinal fluid (SRF) or intraretinal fluid (IRF) after loading dose anti-VEGF, and patients with massive subretinal hemorrhage. An evidence synthesis team conducted systematic reviews, which informed the recommendations that address these questions. This guideline used the GRADE (Grading of Recommendations, Assessment, Development, and Evaluation) approach to assess the certainty of evidence and grade the strengths of recommendations. Results The panel proposed the following six conditional recommendations regarding treatment choices. (1) For patients with inactive PCV, we suggest observation over treatment. (2) For treatment-na?ve PCV patients, we suggest either anti-VEGF monotherapy or combined anti-VEGF and PDT rather than PDT monotherapy. (3) For patients with PCV who plan to initiate combined anti-VEGF and PDT treatment, we suggest later/rescue PDT over initiate PDT. (4) For PCV patients who plan to initiate anti-VEGF monotherapy, we suggest the treat and extend (T&E) regimen rather than the pro re nata (PRN) regimen following three monthly loading doses. (5) For patients with persistent SRF or IRF on optical coherence tomography (OCT) after three monthly anti-VEGF treatments, we suggest proceeding with anti-VEGF treatment rather than observation. (6) For PCV patients with massive subretinal hemorrhage (equal to or more than four optic disc areas) involving the central macula, we suggest surgery (vitrectomy in combination with tissue-plasminogen activator (tPA) intraocular injection and gas tamponade) rather than anti-VEGF monotherapy. Conclusions Six evidence-based recommendations support optimal care for PCV patients' management.

Objective:To investigate the effect of T-lymphocyte and subpopulation counts on the prognosis of severe acute pancreatitis (SAP) patients.Methods:The clinical data of 90 patients with SAP diagnosed at the Shanghai General Hospital between January 2019 and June 2022 were retrospectively analyzed, and the patients were divided into good prognosis and poor prognosis group according to whether they were diagnosed for 28 d. The general information of the patients was recorded, including blood-related immunological indicators within 24 h of diagnosis, including leukocytes, neutrophils, lymphocytes, monocytes, CD 3+ , CD 4+ , CD 8+ T-lymphocyte count and CD 4+ /CD 8+ T-lymphocyte ratio, IgG4 level; blood inflammation index procalcitonin, albumin level and APACHEⅡ score at admission; survival and complication status of patients at 28 d of diagnosis. Non-parametric Mann-Whitney U test was used to analyze the correlation between each index and the prognosis of the patients. The subject operating characteristic curve (ROC) of patients was plotted, and area under curve (AUC) was calculated to assess the value of CD 3+ and CD 4+ T-lymphocytes in predicting the prognosis of SAP. Results:The majority of SAP patients were male (65.6%). The main cause of SAP was gallstone (56.7%), followed by hyperlipidemia (35.6%). At 28 days after diagnosis, 85(94.4%) patients survived, and 39 of them were cured and included in the good prognosis group. Forty-six cases were complicated with infection, multiple organ dysfunction syndrome (MODS) and local pancreatic complications, and 5 cases (5.56%) died; and a total of 51 cases were included in the poor prognosis group. Compared with the good prognosis group, the number of CD 3+ T-lymphocytes [366(268, 498) cells /μl vs 709(578, 999) cells /μl], CD 4+ T-lymphocytes [209(120, 298) cells /μl vs 486(303, 548) cells /μl] and albumin level (33.9 g/L vs 35.9 g/L) within 24 hours in the poor prognosis group were significantly lower, while the level of procalcitonin (1.02 ng/ml vs 0.43 ng/ml) and APACHEⅡ score [7(4, 10) vs 5(3, 8)] were significantly increased, and all the differences were statistically significant (all P value <0.05). ROC curve analysis showed that the AUC values for CD 3+ and CD 4+ T-lymphocyte counts within 24 hours for predicting poor prognosis of SAP were 0.857 (95% CI 0.696-1.000) and 0.867 (95% CI 0.708-1.000), respectively. The cut-off values were 524 cells /μl and 301 cells /μl, the sensitivity were both 85.7%, and the specificity were 78.6% and 85.7%, respectively. Conclusions:The significant decrease of peripheral blood CD 3+ and CD 4+ T-lymphocyte count within 24 h of SAP diagnosis has a certain predictive value for the prognosis of patients with SAP.

Objective: To analyze the short-time efficacy of empagliflozin in the treatment of glycogen storage disease type Ⅰb (GSD Ⅰb). Methods: In this prospective open-label single-arm study, the data of 4 patients were collected from the pediatric department in Peking Union Medical College Hospital from December 2020 to December 2022. All of them were diagnosed by gene sequencing and had neutropenia. These patients received empagliflozin treatment. Their clinical symptoms such as height and weight increase, abdominal pain, diarrhea, oral ulcer, infection times, and drug applications were recorded at 2 weeks, 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, and 15 months after treatment to assess the therapeutic effect. The liquid chromatography-tandem mass spectrometry method was used to monitor the changes in 1, 5-anhydroglucitol (1, 5AG) concentration in plasma. At the same time, adverse reactions such as hypoglycemia and urinary tract infection were closely followed up and monitored. Results: The 4 patients with GSD Ⅰb were 15, 14, 4 and 14 years old, respectively at the beginning of empagliflozin treatment, and were followed up for 15, 15, 12 and 6 months, respectively. Maintenance dose range of empagliflozin was 0.24-0.39 mg/(kg·d). The frequency of diarrhea and abdominal pain decreased in cases 2, 3, and 4 at 1, 2 and 3 months of treatment, respectively. Their height and weight increased at different degrees.The absolute count of neutrophils increased from 0.84×10⁹, 0.50×10⁹, 0.48×10⁹, 0.48×10⁹/L to 1.48×10⁹, 3.04×10⁹, 1.10×10⁹, 0.73×10⁹/L, respectively. Granulocyte colony-stimulating factor was gradually reduced in 1 patients and stopped in 3 patient. Plasma 1, 5 AG levels in 2 children were significantly decreased after administration of empagliflozin (from 46.3 mg/L to 9.6 mg/L in case 2, and from 56.1 mg/L to 15.0 mg/L in case 3). All 4 patients had no adverse reactions such as hypoglycemia, abnormal liver or kidney function, or urinary system infection. Conclusion: In short-term observation, empagliflozin can improve the symptoms of GSD Ⅰb oral ulcers, abdominal pain, diarrhea, and recurrent infection, also can alleviate neutropenia and decrease 1, 5AG concentration in plasma, with favorable safety.
Humans ; Child ; Child, Preschool ; Adolescent ; Prospective Studies ; Glycogen Storage Disease Type I/drug therapy* ; Neutropenia ; Abdominal Pain ; Diarrhea/drug therapy* ; Hypoglycemia

Objective: To compare the efficacies between open surgery and axillary non-inflatable endoscopic surgery in papillary thyroid carcinoma (PTC). Methods: A retrospective analysis was performed on 343 patients with unilateral PTC treated by traditional open surgery (201 cases) and transaxillary non-inflating endoscopic surgery (142 cases) from May 2019 to December 2021 in the Head and Neck Surgery of Sichuan Cancer Hospital. Among them, 97 were males and 246 were females, aged 20-69 years. 1∶1 propensity score matching (PSM) was performed on the enrolled patients, and the basic characteristics, perioperative clinical outcomes, postoperative complications, postoperative quality of life (Thyroid Cancer-Specific Quality of Life), aesthetic satisfaction and other aspects of the two groups were compared after successful matching. SPSS 26.0 software was used for statistical analysis. Results: A total of 190 patients were enrolled after PSM, with 95 cases in open group and 95 cases in endoscopic group. Intraoperative blood losses for endoscopic and open groups were [20 (20) ml vs. 20 (10) ml, M (IQR), Z=-2.22], postoperative drainage volumes [170 (70)ml vs. 101 (55)ml, Z=-7.91], operative time [135 (35)min vs. 95 (35)min, Z=-7.34], hospitalization cost [(28 188.7±2 765.1)yuan vs. (25 643.5±2 610.7)yuan, x¯±s, t=0.73], postoperative hospitalization time [(3.1±0.9)days vs. (2.6±0.9)days, t=-3.24], and drainage tube placement time [(2.5±0.8) days vs. (2.0±1.0)days, t=-4.16], with statistically significant differrences (all P<0.05). There was no significant difference in surgical complications (P>0.05). There were significant diffferences between two groups in the postoperative quality of life scores in neuromuscular, psychological, scar and cold sensation (all P<0.05), while there were no statistically significant differences in other quality of life scores (all P>0.05). In terms of aesthetic satisfaction 6 months after surgery, the endoscopic group was better than the open group, with statistically significant difference (χ²=41.47, P<0.05). Conclusion: Endoscopic thyroidectomy by a gasless unilateral axillary approach is a safe and reliable surgical method, which has remarkable cosmetic effect and can improve the postoperative quality of life of patients compared with the traditional thyroidectomy.
Male ; Female ; Humans ; Thyroid Cancer, Papillary/surgery* ; Retrospective Studies ; Quality of Life ; Thyroid Neoplasms/pathology* ; Endoscopy ; Thyroidectomy/methods*

OBJECTIVES: To study the effect of improvement in antibiotic use strategy on the short-term clinical outcome of preterm infants with a gestational age of <35 weeks. METHODS: The medical data were retrospectively collected from 865 preterm infants with a gestational age of <35 weeks who were admitted to the Neonatal Intensive Care Unit of Xiangya Hospital of Central South University from January 1, 2014 to December 31, 2016. The improved antibiotic use strategy was implemented since January 1, 2015. According to the time of implementation, the infants were divided into three groups: pre-adjustment (January 1, 2014 to December 31, 2014; n=303), post-adjustment Ⅰ (January 1, 2015 to December 31, 2015; n=293), and post-adjustment Ⅱ (January 1, 2016 to December 31, 2016; n=269). The medical data of the three groups were compared. RESULTS: There were no significant differences among the three groups in gestational age, proportion of small-for-gestational-age infants, sex, and method of birth (P>0.05). Compared with the pre-adjustment group, the post-adjustment I and post-adjustment Ⅱ groups had a significant reduction in the rate of use of antibiotics and the duration of antibiotic use in the early postnatal period and during hospitalization (P<0.05), with a significant increase in the proportion of infants with a duration of antibiotic use of ≤3 days or 4-7 days and a significant reduction in the proportion of infants with a duration of antibiotic use of >7 days in the early postnatal period (P<0.05). Compared with the post-adjustment Ⅰ group, the post-adjustment Ⅱ group had a significant reduction in the duration of antibiotic use in the early postnatal period and during hospitalization (P<0.05), with a significant increase in the proportion of infants with a duration of antibiotic use of ≤3 days and a significant reduction in the proportion of infants with a duration of antibiotic use of 4-7 days or >7 days (P<0.05). Compared with the pre-adjustment group, the post-adjustment I and post-adjustment Ⅱ groups had significantly shorter duration of parenteral nutrition and length of hospital stay (P<0.05). There were gradual reductions in the incidence rates of grade ≥Ⅲ intraventricular hemorrhage (IVH) and late-onset sepsis (LOS) after the adjustment of antibiotic use strategy. The multivariate logistic regression analysis showed that the adjustment of antibiotic use strategy had no effect on short-term adverse clinical outcomes, and antibiotic use for >7 days significantly increased the risk of adverse clinical outcomes (P<0.05). CONCLUSIONS It is feasible to reduce unnecessary antibiotic use by the improvement in antibiotic use strategy in preterm infants with a gestational age of <35 weeks, which can also shorten the duration of parenteral nutrition and the length of hospital stay and reduce the incidence rates of grade ≥Ⅲ IVH and LOS.
Anti-Bacterial Agents/therapeutic use* ; Gestational Age ; Humans ; Infant ; Infant, Newborn ; Infant, Newborn, Diseases ; Infant, Premature ; Intensive Care Units, Neonatal ; Retrospective Studies ; Sepsis/epidemiology*

Objective: To assess the value of cyclin D1 immunocytochemistry combined with a small panel molecular analysis in indeterminate cytological diagnosis of Bethesda category Ⅲ-Ⅴ. Methods: A consecutive cohort of 96 thyroid FNA specimens with indeterminate diagnosis (TBSRTC category Ⅲ-Ⅴ) and available histopathologic follow-up data were collected between December 2018 and December 2021 in Department of Pathology, Beijing Hospital. The cases were evaluated by cyclin D1 immunocytochemistry and molecular testing of BRAF^V600E or a small panel of markers (BRAF, N-RAS, H-RAS, K-RAS and TERT) in the FNA specimens. The identification of the optimal cut-off point of cyclin D1 for the diagnosis of malignancy was evaluated using the receiver operating characteristic (ROC) curves and the assessment of the area under the ROC curve (AUC). The specificity, sensitivity, positive predictive value (PPV) and negative predictive value (NPV) of all these markers were evaluated with the crosstabs and significance was calculated. Results: Ninty-six patients with 96 thyroid nodules were enrolled, including 42 cases of TBSRTC-III, 10 cases of TBSRTC-IV and 44 cases of TBSRTC-V. There were 79 females and 17 males with a median age of 47 years (range, 25 to 75 years). A 7.5% cut-off value for positive cyclin D1 nuclear immunostaining in thyroid cells demonstrated 100% PPV, 57.1% NPV, 81.0% sensitivity and 100% specificity for thyroid malignancy diagnosis. The sensitivity of the BRAF^V600E mutation test or combined with a small panel test alone for thyroid malignancy diagnosis were 65.5% and 69.0% respectively. The sensitivity for thyroid malignancy diagnosis increased to 94.0% and 95.2% respectively when combining the cyclin D1 immunocytochemistry with the molecular test, and the specificities remained 100% and 91.7% respectively.The accuracy of cyclin D1 immunocytochemistry combined with a small panel of molecular test in detecting thyroid malignancy increased to 94.8% compared to using these markers alone. Conclusions: The addition of cyclin D1 immunocytochemistry and a small panel of molecular testing to FNA cytology can increase the sensitivity and NPV of cytology in indeterminate categories, and this supplementary approach provides a simple, accurate and convenient diagnostic method for reducing unnecessary thyroidectomies.
Adult ; Aged ; Humans ; Middle Aged ; Biopsy, Fine-Needle ; Cyclin D1/genetics* ; Molecular Diagnostic Techniques ; Thyroid Nodule/genetics* ; Male ; Female