The recombinant human thyroid-stimulating hormone (rhTSH) can be used for differentiated thyroid cancer (DTC) preparation before ¹³¹I therapy, and follow-up. Since its approval by the American Food and Drug Administration (FDA) in 1998, rhTSH has been clinically used in European countries, the United States, and other countries for nearly 30 years. In April 2024, China’s first independently developed rhTSH agent was approved. Based on clinical experience and evidence from domestic and international studies, an expert consensus on the application of rhTSH has been developed following thorough consultations among experts. The consensus offers evidence-based recommendations to guide the appropriate use of rhTSH in clinical practice.

Objective:To explore the clinical features and management of a child with Chitayat syndrome.Methods:A child presented at the Fengqing People′s Hospital on August 8 2019 was selected as the study subject. Clinical data of the child were retrospectively analyzed. Peripheral blood samples were collected from the child, father and sister. Whole-exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing. Genome Browser, AlphaFold, and PolyPhen-2 were employed for protein structure simulation and amino acid sequence conservation analysis. Pathogenicity of the variant was rated based on guidelines from the American College of Medical Genetics and Genomics (ACMG). Literature was retrieved from databases including CNKI, Wanfang, and PubMed using the keyword "Chitayat syndrome". The clinical characteristics and prognosis of patients with Chitayat syndrome were reviewed and analyzed. This study was approved by the Ethics Committee the Seventh Affiliated Hospital of Sun Yat-sen University (Ethics No.: KY-2024-086-01).Results:The child was born at full term and had special facial features, skeletal abnormalities, recurrent respiratory tract infections and global developmental delay. WES and Sanger sequencing revealed that she has harbored a heterozygous c. 266A>G p. (Tyr89Cys) variant of the ERF gene. Protein structure modeling suggested that the mutant protein has increased spatial distance between the side chain group and DNA, which may reduce its binding affinity to DNA. Amino acid sequence analysis indicated that the p. Tyr89 residue is highly conserved across multiple species. The variant was therefore classified as pathogenic (PM1+ PM2_Supporting+ PM6+ PS1+ PP3). The patient was diagnosed with "Chitayat syndrome". Nutritional support and rehabilitation training were recommended, though the child had died of severe pneumonia at 13 months old. Literature retrieval has collected 7 relevant articles, which involved 14 cases of Chitayat syndrome confirmed by genetic testing. Together with our case, all patients had facial dysmorphisms and skeletal deformities. Fourteen patients (93.3%) had respiratory distress. Seven of them (46.7%) had recurrent respiratory infections and 7 (46.7%) were confirmed with respiratory tract malacia. Eight (53.3%) patients had neuropsychological retardation, while 8 (53.3%) had growth delay. The main interventions for Chitayat syndrome include respiratory and nutritional support, and rehabilitation training for developmental delays. Conclusion:Chitayat syndrome is rarely seen and its clinical manifestations may vary. Airway management and early intervention of developmental delay are important for improving the prognosis.

Objective:To explore the impact of different blood transfusion thresholds on clinical outcomes in children with severe traumatic brain injury (TBI).Methods:A retrospective cohort study was conducted. Clinical data was collected from 64 children with severe TBI who received red blood cell transfusions and were admitted to the Pediatric Intensive Care Unit (PICU) of Beijing Children′s Hospital between January 2020 and December 2024. Data included basic clinical characteristics, mortality rate, neurological recovery (measured by Glasgow coma scale (GCS) at discharge, pediatric cerebral performance category (PCPC) score), length of stay in the PICU, duration of mechanical ventilation, and incidence of complications. Patients were divided into a liberal transfusion group (hemoglobin >70-<100 g/L at first transfusion) and a restrictive transfusion group (hemoglobin ≤70 g/L at first transfusion). Stratified analysis was performed based on age (children >5 and children ≤5 years old). Comparisons between groups were conducted using the independent samples t test, Mann-Whitney U test, χ2 test or Fisher′s exact test. Results:Among the 64 children with severe TBI (43 males and 21 females), the age was 4.9 (2.3, 10.0) years. There were 33 cases in the liberal transfusion group and 31 cases in the restrictive transfusion group. No statistically significant differences were observed in baseline data, including gender, age, trauma mechanism, GCS at admission, surgical intervention, presence of multiple injuries, or comorbidities (sepsis, shock, ventilator-associated pneumonia and acute kidney injury) between the 2 groups (all P>0.05). There were no statistically significant differences between the liberal and restrictive transfusion groups in mortality rate, GCS and PCPC score at discharge, length of PICU stay, duration of mechanical ventilation, or transfusion volume (all P>0.05). In the stratified analysis, 38 children aged over 5 years were included. The restrictive transfusion subgroup, which included 19 children, had a significantly longer PICU length of stay compared to the liberal transfusion subgroup, which also included 19 children (29.5 (18.0, 36.3) vs. 17.0 (6.3, 25.8) d, Z=2.11, P=0.035). Conclusions:There were no significant differences in PICU mortality or neurological functional recovery between the liberal and restrictive blood transfusion strategies in children with severe TBI. However, among children aged over than 5 years, a restrictive transfusion strategy might be associated with a longer length of PICU stay.

Objective To analyze challenges in translating exercise management evidence for patients with metabolism-associated fatty liver disease(MAFLD),develop actionable strategies,and evaluate the application of best evidence.Methods Utilizing the evidence translation model,the best evidence was implemented for MAFLD patients in 4 phases:evidence acquisition,baseline practice review,intervention,and outcome evaluation.We compared the knowledge of exercise management evidence,implementation rates of review indicators,completion of exercise programs,BMI,liver stiffness measurement,controlled attenuation parameters,and patient satisfaction among medical staff at a tertiary hospital in Fujian Province during baseline(March-May 2023),mid-practice(June-August 2023),and late-practice(September-November 2023)phases.Results A total of 88 patients were included at baseline review,95 during mid-practice,and 107 in late-practice.Significant improvements were observed in the implementation rates of 21 review indicators,nurses'knowledge,completion rate,BMI,and controlled attenuation parameters compared to the data at baseline(P＜0.05).Conclusion The application of best evidence in exercise management for MAFLD patients enhances nurses'knowledge,standardizes nursing practices,and reduces patients'BMI and controlled attenuation parameters.

OBJECTIVE: To explore the clinical features and management of a child with Chitayat syndrome. METHODS: A child presented at the Fengqing People's Hospital on August 8 2019 was selected as the study subject. Clinical data of the child were retrospectively analyzed. Peripheral blood samples were collected from the child and his father and sister. Whole-exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing. Genome Browser, AlphaFold, and PolyPhen-2 were employed for protein structure simulation and amino acid sequence conservation analysis. Pathogenicity of the variant was rated based on guidelines from the American College of Medical Genetics and Genomics (ACMG). Literature was retrieved from databases including CNKI, Wanfang, and PubMed using the keyword "Chitayat syndrome". The clinical characteristics and prognosis of patients with Chitayat syndrome were reviewed and analyzed. This study was approved by the Ethics Committee the Seventh Affiliated Hospital of Sun Yat-sen University (Ethics No.: KY-2024-086-01). RESULTS: The child was born at full term and had special facial features, skeletal abnormalities, recurrent respiratory tract infections and global developmental delay. WES and Sanger sequencing revealed that he has harbored a heterozygous c.266A>G p.(Tyr89Cys) variant of the ERF gene. Protein structure modeling suggested that the mutant protein has increased spatial distance between the side chain group and DNA, which may reduce its binding affinity to DNA. Amino acid sequence analysis indicated that the p.Tyr89 residue is highly conserved across multiple species. The variant was therefore classified as pathogenic (PM1+PM2_Supporting+PM6+PS1+PP3). The patient was diagnosed with "Chitayat syndrome". Nutritional support and rehabilitation training were recommended, though the child had died of severe pneumonia at 13 months old. Literature retrieval has collected 7 relevant articles, which involved 14 cases of Chitayat syndrome confirmed by genetic testing. Together with our case, all patients had facial dysmorphisms and skeletal deformities. Fourteen patients (93.3%) had respiratory distress. Seven of them (46.7%) had recurrent respiratory infections and 7 (46.7%) were confirmed with respiratory tract malacia. Eight (53.3%) patients had neuropsychological retardation, while 8 (53.3%) had growth delay. The main interventions for Chitayat syndrome include respiratory and nutritional support, and rehabilitation training for developmental delays. CONCLUSION Chitayat syndrome is rarely seen and its clinical manifestations may vary. Airway management and early intervention of developmental delay are important for improving the prognosis.
Humans ; Male ; Exome Sequencing ; Female ; Mutation ; Child, Preschool ; Infant ; Developmental Disabilities/genetics*

Objective To analyze challenges in translating exercise management evidence for patients with metabolism-associated fatty liver disease(MAFLD),develop actionable strategies,and evaluate the application of best evidence.Methods Utilizing the evidence translation model,the best evidence was implemented for MAFLD patients in 4 phases:evidence acquisition,baseline practice review,intervention,and outcome evaluation.We compared the knowledge of exercise management evidence,implementation rates of review indicators,completion of exercise programs,BMI,liver stiffness measurement,controlled attenuation parameters,and patient satisfaction among medical staff at a tertiary hospital in Fujian Province during baseline(March-May 2023),mid-practice(June-August 2023),and late-practice(September-November 2023)phases.Results A total of 88 patients were included at baseline review,95 during mid-practice,and 107 in late-practice.Significant improvements were observed in the implementation rates of 21 review indicators,nurses'knowledge,completion rate,BMI,and controlled attenuation parameters compared to the data at baseline(P＜0.05).Conclusion The application of best evidence in exercise management for MAFLD patients enhances nurses'knowledge,standardizes nursing practices,and reduces patients'BMI and controlled attenuation parameters.

Objective:To explore the clinical features and management of a child with Chitayat syndrome.Methods:A child presented at the Fengqing People′s Hospital on August 8 2019 was selected as the study subject. Clinical data of the child were retrospectively analyzed. Peripheral blood samples were collected from the child, father and sister. Whole-exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing. Genome Browser, AlphaFold, and PolyPhen-2 were employed for protein structure simulation and amino acid sequence conservation analysis. Pathogenicity of the variant was rated based on guidelines from the American College of Medical Genetics and Genomics (ACMG). Literature was retrieved from databases including CNKI, Wanfang, and PubMed using the keyword "Chitayat syndrome". The clinical characteristics and prognosis of patients with Chitayat syndrome were reviewed and analyzed. This study was approved by the Ethics Committee the Seventh Affiliated Hospital of Sun Yat-sen University (Ethics No.: KY-2024-086-01).Results:The child was born at full term and had special facial features, skeletal abnormalities, recurrent respiratory tract infections and global developmental delay. WES and Sanger sequencing revealed that she has harbored a heterozygous c. 266A>G p. (Tyr89Cys) variant of the ERF gene. Protein structure modeling suggested that the mutant protein has increased spatial distance between the side chain group and DNA, which may reduce its binding affinity to DNA. Amino acid sequence analysis indicated that the p. Tyr89 residue is highly conserved across multiple species. The variant was therefore classified as pathogenic (PM1+ PM2_Supporting+ PM6+ PS1+ PP3). The patient was diagnosed with "Chitayat syndrome". Nutritional support and rehabilitation training were recommended, though the child had died of severe pneumonia at 13 months old. Literature retrieval has collected 7 relevant articles, which involved 14 cases of Chitayat syndrome confirmed by genetic testing. Together with our case, all patients had facial dysmorphisms and skeletal deformities. Fourteen patients (93.3%) had respiratory distress. Seven of them (46.7%) had recurrent respiratory infections and 7 (46.7%) were confirmed with respiratory tract malacia. Eight (53.3%) patients had neuropsychological retardation, while 8 (53.3%) had growth delay. The main interventions for Chitayat syndrome include respiratory and nutritional support, and rehabilitation training for developmental delays. Conclusion:Chitayat syndrome is rarely seen and its clinical manifestations may vary. Airway management and early intervention of developmental delay are important for improving the prognosis.

Objective:To explore the impact of different blood transfusion thresholds on clinical outcomes in children with severe traumatic brain injury (TBI).Methods:A retrospective cohort study was conducted. Clinical data was collected from 64 children with severe TBI who received red blood cell transfusions and were admitted to the Pediatric Intensive Care Unit (PICU) of Beijing Children′s Hospital between January 2020 and December 2024. Data included basic clinical characteristics, mortality rate, neurological recovery (measured by Glasgow coma scale (GCS) at discharge, pediatric cerebral performance category (PCPC) score), length of stay in the PICU, duration of mechanical ventilation, and incidence of complications. Patients were divided into a liberal transfusion group (hemoglobin >70-<100 g/L at first transfusion) and a restrictive transfusion group (hemoglobin ≤70 g/L at first transfusion). Stratified analysis was performed based on age (children >5 and children ≤5 years old). Comparisons between groups were conducted using the independent samples t test, Mann-Whitney U test, χ2 test or Fisher′s exact test. Results:Among the 64 children with severe TBI (43 males and 21 females), the age was 4.9 (2.3, 10.0) years. There were 33 cases in the liberal transfusion group and 31 cases in the restrictive transfusion group. No statistically significant differences were observed in baseline data, including gender, age, trauma mechanism, GCS at admission, surgical intervention, presence of multiple injuries, or comorbidities (sepsis, shock, ventilator-associated pneumonia and acute kidney injury) between the 2 groups (all P>0.05). There were no statistically significant differences between the liberal and restrictive transfusion groups in mortality rate, GCS and PCPC score at discharge, length of PICU stay, duration of mechanical ventilation, or transfusion volume (all P>0.05). In the stratified analysis, 38 children aged over 5 years were included. The restrictive transfusion subgroup, which included 19 children, had a significantly longer PICU length of stay compared to the liberal transfusion subgroup, which also included 19 children (29.5 (18.0, 36.3) vs. 17.0 (6.3, 25.8) d, Z=2.11, P=0.035). Conclusions:There were no significant differences in PICU mortality or neurological functional recovery between the liberal and restrictive blood transfusion strategies in children with severe TBI. However, among children aged over than 5 years, a restrictive transfusion strategy might be associated with a longer length of PICU stay.

The central amygdala (CeA) is a crucial modulator of emotional, behavioral, and autonomic functions, including cardiovascular responses. Despite its importance, the specific circuit by which the CeA modulates blood pressure remains insufficiently explored. Our investigations demonstrate that photostimulation of GABAergic neurons in the centromedial amygdala (CeM^GABA), as opposed to those in the centrolateral amygdala (CeL), produces a depressor response in both anesthetized and freely-moving mice. In addition, activation of CeM^GABA axonal terminals projecting to the nucleus tractus solitarius (NTS) significantly reduces blood pressure. These CeM^GABA neurons form synaptic connections with NTS neurons, allowing for the modulation of cardiovascular responses by influencing the caudal or rostral ventrolateral medulla. Furthermore, CeM^GABA neurons targeting the NTS receive dense inputs from the CeL. Consequently, stimulation of CeM^GABA neurons elicits hypotension through the CeM-NTS circuit, offering deeper insights into the cardiovascular responses associated with emotions and behaviors.
Animals ; GABAergic Neurons/physiology* ; Male ; Central Amygdaloid Nucleus/physiopathology* ; Hypotension/physiopathology* ; Mice ; Blood Pressure/physiology* ; Mice, Inbred C57BL ; Solitary Nucleus/physiology* ; Photic Stimulation ; Neural Pathways/physiology*

OBJECTIVE: To observe the characteristics of changes in non-invasive hemodynamic parameters in neonates with septic shock so as to provide clinical reference for diagnosis and treatment. METHODS: A observational study was conducted. The neonates with sepsis complicated with septic shock or not admitted to neonatal intensive care unit (NICU) of the First Affiliated Hospital of Shantou University Medical College were enrolled as the study subjects, who were divided into preterm infant (< 37 weeks) and full-term infant (≥ 37 weeks) according to the gestational age. Healthy full-term infants and hemodynamically stable preterm infants transferring to NICU after birth were enrolled as controls. Electronic cardiometry (EC) was used to measure hemodynamic parameters, including heart rate (HR), mean arterial pressure (MAP), stroke volume (SV), stroke volume index (SVI), cardiac output (CO), cardiac index (CI), systemic vascular resistance (SVR) and systemic vascular resistance index (SVRI), before treatment in the septic shock group, at the time of diagnosis of sepsis in the sepsis without shock group, and before the discharge from the obstetric department or on the day of transferring to NICU in the control group. RESULTS: Finally, 113 neonates with complete data and parental consent for non-invasive hemodynamic monitoring were enrolled, including 32 cases in the septic shock group, 25 cases in the sepsis without shock group and 56 cases in the control group. In the septic shock group, there were 17 cases at the compensated stage and 15 cases at the decompensated stage. There were 21 full-term infants (20 cured or improved and 1 died) and 11 premature infants (7 cured or improved and 4 died), with the mortality of 15.62% (5/32). There were 18 full-term infants and 7 premature infants in the sepsis without shock group and all cured or improved without death. The control group included 28 full-term infants and 28 premature infants transferring to NICU after birth. Non-invasive hemodynamic parameter analysis showed that SV, SVI, CO and CI of full-term infants in the septic shock group were significantly lower than those in the sepsis without shock group and control group [SV (mL): 3.52±0.99 vs. 5.79±1.32, 5.22±1.02, SVI (mL/m²): 16.80 (15.05, 19.65) vs. 27.00 (22.00, 32.00), 27.00 (23.00, 29.75), CO (L/min): 0.52±0.17 vs. 0.80±0.14, 0.72±0.12, CI (mL×s^-1×m^-2): 40.00 (36.67, 49.18) vs. 62.51 (56.34, 70.85), 60.01 (53.34, 69.68), all P < 0.05], while SVR and SVRI were significantly higher than those in the sepsis without shock group and control group [SVR (kPa×s×L^-1): 773.46±291.96 vs. 524.17±84.76, 549.38±72.36, SVRI (kPa×s×L^-1×m^-2): 149.27±51.76 vs. 108.12±12.66, 107.81±11.87, all P < 0.05]. MAP, SV, SVI, CO and CI of preterm infants in the septic shock group were significantly lower than those in the control group [MAP (mmHg, 1 mmHg ≈ 0.133 kPa): 38.55±10.48 vs. 47.46±2.85, SV (mL): 2.45 (1.36, 3.58) vs. 3.96 (3.56, 4.49), SVI (mL/m²): 17.60 (14.20, 25.00) vs. 25.50 (24.00, 29.00), CO (L/min): 0.32 (0.24, 0.63) vs. 0.56 (0.49, 0.63), CI (mL×s^-1×m^-2): 40.01 (33.34, 53.34) vs. 61.68 (56.68, 63.35), all P < 0.05], while SVR and SVRI were similar to the control group [SVR (kPa×s×L^-1): 1 082.88±689.39 vs. 656.63±118.83, SVRI (kPa×s×L^-1×m^-2): 126.00±61.50 vs. 102.37±11.68, both P > 0.05]. Further analysis showed that SV, SVI and CI of neonates at the compensation stage in the septic shock group were significantly lower than those in the control group [SV (mL): 3.60±1.29 vs. 4.73±1.15, SVI (mL/m²): 19.20±8.33 vs. 26.34±3.91, CI (mL×s^-1×m^-2): 46.51±20.34 vs. 61.01±7.67, all P < 0.05], while MAP, SVR and SVRI were significantly higher than those in the control group [MAP (mmHg): 52.06±8.61 vs. 48.54±3.21, SVR (kPa×s×L^-1): 874.95±318.70 vs. 603.01±111.49, SVRI (kPa×s×L^-1×m^-2): 165.07±54.90 vs. 105.09±11.99, all P < 0.05]; MAP, SV, SVI, CO and CI of neonates at the decompensated stage in the septic shock group were significantly lower than those in the control group [MAP (mmHg): 35.13±6.08 vs. 48.54±3.21, SV (mL): 2.89±1.17 vs. 4.73±1.15, SVI (mL/m²): 18.50±4.99 vs. 26.34±3.91, CO (L/min): 0.41±0.19 vs. 0.65±0.15, CI (mL×s^-1×m^-2): 43.34±14.17 vs. 61.01±7.67, all P < 0.05], while SVR and SVRI were similar to the control group [SVR (kPa×s×L^-1): 885.49±628.04 vs. 603.01±111.49, SVRI (kPa×s×L^-1×m^-2): 114.29±43.54 vs. 105.09±11.99, both P > 0.05]. CONCLUSIONS Full-term infant with septic shock exhibit a low cardiac output, high vascular resistance hemodynamic pattern, while preterm infant with septic shock show low cardiac output and normal vascular resistance. At the compensated stage the hemodynamic change is low output and high resistance type, while at the decompensated stage it is low output and normal resistance type. Non-invasive hemodynamic monitoring can assist in the identification of neonatal septic shock and provide basis for clinical diagnosis and treatment.
Humans ; Shock, Septic/physiopathology* ; Infant, Newborn ; Hemodynamics ; Female ; Male ; Case-Control Studies ; Infant, Premature