Objective:To investigate the clinical characteristics of omphalocele, and to assess the risk factors associated with adverse outcomes.Methods:A retrospective cohort study was conducted. Clinical data of 224 patients diagnosed with omphalocele, who were hospitalized at Children′s Hospital, Zhejiang University School of Medicine from January 2013 to December 2022, were collected. Based on their discharge outcomes, the patients were classified into 2 groups: favorable outcomes and unfavorable outcomes. Chi-square test or continuity correction χ2 test or Fisher exact probability method, and Mann-Whitney U test were used for intergroup comparisons. Logistic regression analysis was performed to identify risk factors associated with adverse outcomes in omphalocele. Results:Among the 224 patients with omphalocele, 126 were male. A total of 208 patients (92.9%) had favorable outcomes, while 16 patients (7.1%) had unfavorable outcomes. In the unfavorable outcomes group, 14 patients had giant omphaloceles, while 100 patients had giant omphaloceles in the favorable outcomes group. The rates of herniation of more than two intra-abdominal organs in the hernial sac, congenital heart defects, patent ductus arteriosus, pulmonary hypertension, sepsis and infection of the hernial sac, were all higher in the unfavorable outcomes group compared to the favorable outcomes group (all P<0.05). Patients with unfavorable outcomes had longer mechanical ventilation time, duration of oxygen use, duration of parenteral nutrition, hospital stays, and higher rates of parenteral nutrition-associated cholestasis compared to those with favorable outcomes (all P<0.01). Multivariate Logistic regression analysis indicated that pulmonary hypertension ( OR=9.39, 95% CI 1.20-73.32), sepsis ( OR=8.59, 95% CI 1.32-55.86), and congenital heart defects ( OR=6.55, 95% CI 1.11-38.73) were all independent risk factors for adverse outcomes in omphalocele (all P<0.05). Conclusions:Infants with omphalocele are prone to complications such as cardiovascular malformations, infections, and pulmonary hypertension. Adverse outcomes in omphalocele are associated with pulmonary hypertension, sepsis, and congenital heart defects.

Objective:To explore the clinical phenotypes and genetic variant in a neonatal case of Mitochondrial DNA depletion syndrome type 13 (MTDPS13).Methods:Clinical data and results of genetic testing of a neonate admitted to the Children′s Hospital of Zhejiang University School of Medicine in January 2023 was retrospectively analyzed. The study was approved by the Medical Ethics Committee of the Children′s Hospital of Zhejiang University(Ethic No.2023-IRB-0093-P-01).Results:The male infant was admitted to the NICU due to tachypnea and persistent lactic acidosis 6 hours after birth. At admission, distinctive facial features were noted. Laboratory tests showed elevated lactic acid (> 30 mmol/L). Whole-exome sequencing revealed that he has harbored homozygous c. 141del frameshift mutation of FBXL4 gene, which was unreported previously. The mutation was inherited from both of his parents and classified as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Conclusion:The clinical phenotypes of this case of MTDPS13 is characterized by lactic acidosis, distinctive facial features, growth retardation and developmental delay, for which the homozygous c. 141del variant of the FBXL4 gene may be accountable.

OBJECTIVE: To explore the clinical phenotypes and genetic variant in a neonatal case of Mitochondrial DNA depletion syndrome type 13 (MTDPS13). METHODS: Clinical data and results of genetic testing of a neonate admitted to the Children's Hospital of Zhejiang University School of Medicine in January 2023 was retrospectively analyzed. The study was approved by the Medical Ethics Committee of the Children's Hospital of Zhejiang University. RESULTS: The male infant was admitted to the NICU due to tachypnea and persistent lactic acidosis 6 hours after birth. At admission, distinctive facial features were noted. Laboratory tests showed elevated lactic acid (< 30 mmol/L). Whole-exome sequencing revealed that he has harbored homozygous c.141del frameshift mutation of FBXL4 gene, which was unreported previously. The mutation was inherited from both of his parents and classified as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). CONCLUSION The clinical phenotypes of this case of MTDPS13 is characterized by lactic acidosis, distinctive facial features, growth retardation and developmental delay, for which the homozygous c.141del variant of the FBXL4 gene may be accountable.
Humans ; Male ; F-Box Proteins/genetics* ; Infant, Newborn ; Ubiquitin-Protein Ligases/genetics* ; DNA, Mitochondrial/genetics* ; Mitochondrial Diseases/genetics* ; Acidosis, Lactic/genetics* ; Mutation ; Phenotype ; Frameshift Mutation ; Exome Sequencing

Objective:To explore the clinical phenotypes and genetic variant in a neonatal case of Mitochondrial DNA depletion syndrome type 13 (MTDPS13).Methods:Clinical data and results of genetic testing of a neonate admitted to the Children′s Hospital of Zhejiang University School of Medicine in January 2023 was retrospectively analyzed. The study was approved by the Medical Ethics Committee of the Children′s Hospital of Zhejiang University(Ethic No.2023-IRB-0093-P-01).Results:The male infant was admitted to the NICU due to tachypnea and persistent lactic acidosis 6 hours after birth. At admission, distinctive facial features were noted. Laboratory tests showed elevated lactic acid (> 30 mmol/L). Whole-exome sequencing revealed that he has harbored homozygous c. 141del frameshift mutation of FBXL4 gene, which was unreported previously. The mutation was inherited from both of his parents and classified as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Conclusion:The clinical phenotypes of this case of MTDPS13 is characterized by lactic acidosis, distinctive facial features, growth retardation and developmental delay, for which the homozygous c. 141del variant of the FBXL4 gene may be accountable.

Objective:To investigate the anesthetic and analgesic effects of ultrasound-guided high-position fascia iliaca compartment block (FICB) in older adult patients undergoing hip fracture surgery.Methods:A total of 120 older adult patients who underwent hip fracture surgery at the Department of Orthopedics, Dongyang People's Hospital, between January 2022 and October 2023, were enrolled in this study. This is a prospective controlled study. The patients were randomly assigned to either a conventional group or a high-position group, with 60 patients in each group, using a random number table method. The patients in the conventional group received ultrasound-guided routine FICB 30 minutes before entering the operating room, whereas the patients in the high-position group underwent ultrasound-guided high-position FICB 30 minutes prior to entering the operating room. The onset time of nerve block in both groups was observed, specifically targeting the femoral nerve, lateral femoral cutaneous nerve, and obturator nerve. Changes in hemodynamic indicators, including heart rate and mean arterial pressure, were monitored at various time points: before nerve block (T0), upon entering the operating room (T1), during anesthesia positioning (T2), and after anesthesia completion (T3). The pain level was assessed using the Visual Analogue Scale score at the same time points. Changes in pain neurotransmitters prostaglandin E 2 and 5-hydroxytryptamine were analyzed at T0 and T3. Results:The onset time of the femoral nerve, lateral femoral cutaneous nerve, and obturator nerve in the high-position group [(4.02 ± 1.16) minutes, (4.55 ± 1.29) minutes, (7.71 ± 2.02) minutes] were significantly shorter than those in the conventional group [(5.15 ± 1.42) minutes, (6.62 ± 1.78) minutes, (12.24 ± 3.68) minutes, t = 4.77, 7.29, 8.35, all P < 0.001]. At T1 and T2, the heart rates in the high-position group [(77.55 ± 9.19) beats/minute, (75.54 ± 9.37) beats/minute] and mean arterial pressures [(95.62 ± 10.51) mmHg (1 mmHg = 0.133 kPa), (92.72 ± 11.44) mmHg] were significantly higher than those in the conventional group [(74.62 ± 9.68) beats/minute, (72.41 ± 9.36) beats/minute, (92.36 ± 10.04) mmHg, (88.24 ± 11.35) mmHg, t = 1.70, 1.82, 1.73, 2.15, P = 0.046, 0.035, 0.042, 0.017]. At T1 and T2, the VAS scores of the high-position group [(3.05 ± 0.61) points, (3.44 ± 0.89) points] were significantly lower than those in the conventional group [(3.72 ± 0.67) points, (4.29 ± 1.06) points, t = 5.73, 4.76, both P < 0.001]. At T3, the levels of prostaglandin E2 and 5-hydroxytryptamine in the high-position group [(35.38 ± 6.12) mg/L, (0.59 ± 0.09) μmol/L] were significantly lower than those in the conventional group [(44.91 ± 6.72) mg/L, (0.63 ± 0.13) μmol/L, t = 8.12, 1.96, P < 0.001, P = 0.026]. Conclusion:Ultrasound-guided high-position FICB exhibits a favorable application effect in anesthetizing older adult patients undergoing hip fracture surgery. It effectively shortens the onset time of nerve block, stabilizes hemodynamic indicators, and alleviates pain.

Pancreatic ductal adenocarcinoma (PDAC) is a highly aggressive lethal malignancy, characterized by late diagnosis, aggressive growth, and therapy resistance, leading to a poor overall prognosis. Emerging evidence shows that the peripheral nerve is an important non-tumor component in the tumor microenvironment that regulates tumor growth and immune escape. The crosstalk between the neuronal system and PDAC has become a hot research topic that may provide novel mechanisms underlying tumor progression and further uncover promising therapeutic targets. In this review, we highlight the mechanisms of perineural invasion and the role of various types of tumor innervation in the progression of PDAC, summarize the potential signaling pathways modulating the neuronal-cancer interaction, and discuss the current and future therapeutic possibilities for this condition.
Humans ; Carcinoma, Pancreatic Ductal/pathology* ; Pancreatic Neoplasms/therapy* ; Signal Transduction ; Peripheral Nerves/metabolism* ; Tumor Microenvironment

Silicosis is a diffuse pulmonary fibrosis disease caused by occupational exposure to silica, which is one of the occupational diseases with high incidence in developing countries. Up to now, there is no definite drug to relieve or reverse the lung injury caused by silicosis, so it is very important to prevent, diagnose and treat pulmonary fibrosis as soon as possible. Studies have shown that a chronic inflammatory environment contributes to pulmonary fibrosis to a certain extent. Interleukin-1β is a cytokine that increases the number of inflammatory factors in the microenvironment in the immune response and plays a key role in inflammatory reaction. Therefore, the release of interleukin-1β is of great significance in the pathogenesis of silicosis. This paper aims to systematically expound the development course of silicosis, the signal pathway of interleukin-1β production, and the relationship between them.

Objectives:To investigate the risk factors and short-term prognosis of early pulmonary hypertension (PH) in preterm infants.Methods:A retrospective case-control study was performed in preterm infants (gestational age <32 weeks) in the neonatal intensive care unit (NICU) of the Children′s Hospital, Zhejiang University School of Medicine from January 2012 to December 2019. Eighty preterm infants with a diagnosis of PH between 3 and 14 days (early PH group) were matched in gestational age and sex with the controls (1∶2) of the same period in NICU. Perinatal clinical records, complications, echocardiography and early outcomes were collected. Characteristics and outcomes were compared between the two groups with t-test, nonparametric test or Chi-square test. Multivariate Logistic regression was used to analyze the predictive factors of early PH. Results:The gestational age of the early PH group and the control group were both (27.9±1.4) weeks, and 52 (65.0%) and 104 (65.0%) were males in each group, respectively. Univariate analysis showed that birth weights were lower in the early PH group than those in the control group (1 030 (850, 1 200) vs. 1 110 (1 000, 1 278) g, Z=-3.27, P=0.001). The early PH group had higher rates of pregnancy-induced hypertension, prolonged rupture of membranes (PROM) >1 week, born by caesarean, small for gestational age (SGA), 1 and 5 min Apgar score ≤7 scores, neonatal respiratory distress syndrome (RDS) and hemodynamic significant patent ductus arteriosus (hsPDA) (12.5% (10/80) vs. 3.8% (6/160), 11.2% (9/80) vs. 3.8% (6/160), 48.8% (39/80) vs. 28.8% (46/160), 10.0% (8/80) vs. 1.9% (3/160), 70.8% (51/72) vs. 51.7% (74/143), 50.0% (36/72) vs. 20.3% (29/143), 88.8% (71/80) vs. 59.4% (95/160), 85.0% (68/80) vs. 22.5% (36/160), χ 2=6.56, 5.12, 3.31, 8.05, 7.17, 20.05, 21.58, 84.84, all P<0.05). Multivariate Logistic regression analysis showed that the independent predictive factors of early PH were PROM >1 week, SGA, 5 min Apgar score ≤7 scores, nenonatal RDS and hsPDA ( OR=10.40, 18.61, 4.47, 4.13, 20.10, 95% CI 1.93-56.12, 2.82-122.76, 1.91-10.46, 1.50-11.39, 8.28-48.80, all P<0.05),respectively. Infants with early PH had higher incidence of bronchopulmonary dysplasia (BPD), BPD associated PH, severe intraventricular hemorrhage (IVH), extrauterine growth retardation (EUGR), laser treatment for retinopathy of prematurity (ROP) and mortality than the controls (all P<0.05). The duration of invasive mechanical ventilation was also longer in the early PH group than that in the control group ( P<0.05). Conclusions:Risk of early PH will be increased in preterm infants with PROM >1 week, SGA, 5 min Apgar score ≤7 scores, and comorbidities of nenonatal RDS and hsPDA. Early PH is associated with increased mortality, BPD, BPD associated PH, severe IVH, EUGR and laser treatment for ROP.

Iodinated thyroglobulin (TG) can reflect the storage of thyroid hormones and iodine in the thyroid, which has an important influence on thyroid function. However, the study on iodinated TG and autoimmune thyroiditis has yet to be further conducted. This paper reviews the formation of iodinated TG, the measuring method of TG, and the molecular mechanism of iodinated TG function, including the relationships between iodinated TG and thyroid peroxidase adjustment, the expression of thyrotropin receptor, thyroid transcription factor 1, paired box gene 8, and iodine and sodium transporter, last but not least, we aim to investigate the immune and autophagy mechanisms of high iodinated TG-induced autoimmune thyroiditis.