Objective To analyze the current status of health resources and medical service utilization in children's hos-pitals in China in 2022,explore existing challenges,and propose targeted solutions.Methods This study evaluated the develop-ment of health resources and service utilization patterns in children's hospitals based on 2022 data.Results Children's hospi-tals exhibited a"dumbbell-shaped"structure in bed capacity distribution,with severe polarization between small-scale and large-scale facilities.Insufficient human resources and excessive workloads were prominent,particularly for physicians.Additionally,outpatient services faced high pressure,while inpatient resources were underutilized.Conclusion To address these issues,we recommend optimizing the hierarchical diagnosis and treatment system by leveraging medical consortiums for resource allocation,enhancing pediatric physician training and adopting technology to alleviate workloads,and improving inpatient service models with dynamic resource allocation to address seasonal demand fluctuations.

Objective:To evaluate the effectiveness and safety of zoledronic acid in patients with Paget′s disease of bone based on clinical data from a single medical center.Methods:This retrospective study included 24 patients diagnosed with Paget′s disease of bone and treated with zoledronic acid at Peking Union Medical College Hospital between January 2009 and June 2020. Demographic data, clinical symptoms, treatment efficacy, and safety outcomes were collected. The primary efficacy measure was serum alkaline phosphatase(ALP) levels. Treatment was considered effective if ALP levels returned to normal or decreased by more than 75% from baseline in the difference between the ALP level and its normal median value.Results:Among the 24 patients with Paget′s bone disease, the most commonly affected site was the skull(in 17 cases). All patients received a single 5 mg intravenous infusion of zoledronic acid. Serum ALP levels significantly decreased after treatment. Among the 15 patients who completed at least 3 months of follow-up, all achieved treatment success. The median time for serum ALP levels to reach the target was 13.1(9.4, 26.1) weeks. In 12 patients, ALP levels normalized within a medium of 16.9(11.5, 37.3) weeks, and remained stable over a medium follow-up of 4.56(2.42, 5.71) years. The most common side effects were hypocalcemia(21 cases, 87.5%) and flu-like symptoms(17 cases, 70.8%). Seven patients had severe hypocalcemia(serum calcium<1.75 mmol/L), and they had higher baseline levels of ALP, calcium, and phosphorus compared to those with mild hypocalcemia.Conclusions:Zoledronic acid 5 mg intravenous infusion effectively controlled disease activity in patients with Paget′s disease of bone. Generally, Most patients achieved treatment goals within 3-4 months, with sustained remission for a median of 4 years. Hypocalcemia was the most frequent side effect, underscoring the importance of timely calcium and vitamin D supplementation.

Objective To analyze the current status of health resources and medical service utilization in children's hos-pitals in China in 2022,explore existing challenges,and propose targeted solutions.Methods This study evaluated the develop-ment of health resources and service utilization patterns in children's hospitals based on 2022 data.Results Children's hospi-tals exhibited a"dumbbell-shaped"structure in bed capacity distribution,with severe polarization between small-scale and large-scale facilities.Insufficient human resources and excessive workloads were prominent,particularly for physicians.Additionally,outpatient services faced high pressure,while inpatient resources were underutilized.Conclusion To address these issues,we recommend optimizing the hierarchical diagnosis and treatment system by leveraging medical consortiums for resource allocation,enhancing pediatric physician training and adopting technology to alleviate workloads,and improving inpatient service models with dynamic resource allocation to address seasonal demand fluctuations.

Objective:To evaluate the effectiveness and safety of zoledronic acid in patients with Paget′s disease of bone based on clinical data from a single medical center.Methods:This retrospective study included 24 patients diagnosed with Paget′s disease of bone and treated with zoledronic acid at Peking Union Medical College Hospital between January 2009 and June 2020. Demographic data, clinical symptoms, treatment efficacy, and safety outcomes were collected. The primary efficacy measure was serum alkaline phosphatase(ALP) levels. Treatment was considered effective if ALP levels returned to normal or decreased by more than 75% from baseline in the difference between the ALP level and its normal median value.Results:Among the 24 patients with Paget′s bone disease, the most commonly affected site was the skull(in 17 cases). All patients received a single 5 mg intravenous infusion of zoledronic acid. Serum ALP levels significantly decreased after treatment. Among the 15 patients who completed at least 3 months of follow-up, all achieved treatment success. The median time for serum ALP levels to reach the target was 13.1(9.4, 26.1) weeks. In 12 patients, ALP levels normalized within a medium of 16.9(11.5, 37.3) weeks, and remained stable over a medium follow-up of 4.56(2.42, 5.71) years. The most common side effects were hypocalcemia(21 cases, 87.5%) and flu-like symptoms(17 cases, 70.8%). Seven patients had severe hypocalcemia(serum calcium<1.75 mmol/L), and they had higher baseline levels of ALP, calcium, and phosphorus compared to those with mild hypocalcemia.Conclusions:Zoledronic acid 5 mg intravenous infusion effectively controlled disease activity in patients with Paget′s disease of bone. Generally, Most patients achieved treatment goals within 3-4 months, with sustained remission for a median of 4 years. Hypocalcemia was the most frequent side effect, underscoring the importance of timely calcium and vitamin D supplementation.

Objective:To report five families of familial periodic paralysis.Methods:The clinical and genetic data of 5 families with familial periodic paralysis caused by SCN4A gene mutation who visited the First Affiliated Hospital of Henan University of Science and Technology from 2017 to 2022 were analyzed retrospectively.Results:The probands carried heterozygous missense mutations of SCN4A gene c. 3395G>A p. Arg1132Gln (Case 1), c. 2015G>A p. Arg672His (Case 2 and case 3), c. 2006G>A p. Arg669His (Case 4), c. 2111C>T p. Thr704Met (Case 5), respectively. Among them, four probands were diagnosed as hypokalemic periodic paralysis, one patient considered normal blood potassium periodic paralysis, and the treatment of acute attack was mainly potassium supplement. The main treatment for acute attacks was potassium supplementation, which was administered through intravenous infusion of potassium chloride combined with oral potassium chloride sustained-release tablets in the hospital. Simultaneously blood potassium levels and electrocardiogram monitoring were closely monitored. The main approach outside the hospital was to adopt a reasonable lifestyle and avoid triggering factors.Conclusions:The clinical manifestations caused by SCN4A gene mutation are diverse, and special attention should be paid in diagnosis, treatment and genetic counseling. Gene sequencing is an important molecular genetic diagnostic method.

ObjectiveTo evaluate the field mosquito surveillance efficacy between the black box method and the light trap method. MethodsEight light traps and eight black boxes were placed in each of the eight field sites in Baoshan District of Shanghai， with a minimum distance of 10 meters between each traps. Surveillance was conducted twice a month from May to September 2023. ResultsThe total number of mosquitoes （273） and female mosquitoes （228） captured by the black box method were 0.795 and 0.774 times higher than those caught by the light trap method， respectively. There was no statistically significant difference （P>0.05） between the mosquito density （t=1.723 5， P=0.100 2） and the female mosquito density （t=1.805 9， P=0.101 1）， and there was a correlation （P<0.001） between the mosquito density （r=0.942 7） and the female mosquito density （r=0.896 5）. There were no significant differences in the composition ratio of mosquito species（χ²=0.100 1， P>0.05） and female mosquitoes（χ²=0.394 4， P>0.05） captured by black box and light trap methods. In four different habitats， the composition ratios of mosquito species captured by the black box and light trap methods were： hospitals （38.10% and 38.77%） > rural housing areas （36.26% and 37.61%） > parks （14.65% and 12.54%）> urban housing areas （10.99% and 11.08%）， and the composition ratios of female mosquitoes captured by the black box and light trap methods were： rural housing areas （40.35% and 42.52%） > hospitals （37.72% and 36.05%） > parks （13.16% and 13.27%） > urban housing areas （8.77% and 8.16%）. In different habitats， there was no significant difference in the composition ratio of mosquitoes captured by two monitoring methods（χ²=0.5987， P>0.05）， and there was no significant difference in the composition ratio of female mosquitoes（χ²=0.2993， P>0.05）. ConclusionWith widen application and fewer requirements for equipment， operation skills， and use cost the black box method can be interchanged with the light trap method for monitoring mosquito density， especially in disaster areas or remote areas with difficult in having access to electricity.

Objective:To report five families of familial periodic paralysis.Methods:The clinical and genetic data of 5 families with familial periodic paralysis caused by SCN4A gene mutation who visited the First Affiliated Hospital of Henan University of Science and Technology from 2017 to 2022 were analyzed retrospectively.Results:The probands carried heterozygous missense mutations of SCN4A gene c. 3395G>A p. Arg1132Gln (Case 1), c. 2015G>A p. Arg672His (Case 2 and case 3), c. 2006G>A p. Arg669His (Case 4), c. 2111C>T p. Thr704Met (Case 5), respectively. Among them, four probands were diagnosed as hypokalemic periodic paralysis, one patient considered normal blood potassium periodic paralysis, and the treatment of acute attack was mainly potassium supplement. The main treatment for acute attacks was potassium supplementation, which was administered through intravenous infusion of potassium chloride combined with oral potassium chloride sustained-release tablets in the hospital. Simultaneously blood potassium levels and electrocardiogram monitoring were closely monitored. The main approach outside the hospital was to adopt a reasonable lifestyle and avoid triggering factors.Conclusions:The clinical manifestations caused by SCN4A gene mutation are diverse, and special attention should be paid in diagnosis, treatment and genetic counseling. Gene sequencing is an important molecular genetic diagnostic method.

Detailed characterizations of genomic alterations have not identified subtype-specific vulnerabilities in adult gliomas. Mapping gliomas into developmental programs may uncover new vulnerabilities that are not strictly related to genomic alterations. After identifying conserved gene modules co-expressed with EGFR or PDGFRA (EM or PM), we recently proposed an EM/PM classification scheme for adult gliomas in a histological subtype- and grade-independent manner. By using cohorts of bulk samples, paired primary and recurrent samples, multi-region samples from the same glioma, single-cell RNA-seq samples, and clinical samples, we here demonstrate the temporal and spatial stability of the EM and PM subtypes. The EM and PM subtypes, which progress in a subtype-specific mode, are robustly maintained in paired longitudinal samples. Elevated activities of cell proliferation, genomic instability and microenvironment, rather than subtype switching, mark recurrent gliomas. Within individual gliomas, the EM/PM subtype was preserved across regions and single cells. Malignant cells in the EM and PM gliomas were correlated to neural stem cell and oligodendrocyte progenitor cell compartment, respectively. Thus, while genetic makeup may change during progression and/or within different tumor areas, adult gliomas evolve within a neurodevelopmental framework of the EM and PM molecular subtypes. The dysregulated developmental pathways embedded in these molecular subtypes may contain subtype-specific vulnerabilities.
Humans ; Brain Neoplasms/pathology* ; Neoplasm Recurrence, Local/metabolism* ; Glioma/pathology* ; Neural Stem Cells/pathology* ; Oligodendrocyte Precursor Cells/pathology* ; Tumor Microenvironment

This study reported a family of mitochondrial diabetes mellitus complicated with chronic hereditary pancreatitis. A 18-year-old woman presented with self-reported hyperglycemia and chronic epigastric pain was admitted to our hospital. Clinical data and family history were collected. Mitochondrial gene sequencing and whole exon gene sequencing showed that the proband carried mutation of mt.3243A>G and heterozygous mutation of SPINK1 c. 194+ 2T>C, which was considered as mitochondrial diabetes mellitus with chronic pancreatitis.

Background: Epidermolysis bullosa (EB) is a rare genetic disease with widely different clinical manifestations, but the relationship between genotype and phenotype is not fully understood. In the present study, we recruited a Chinese family in which two members had been diagnosed with localized EB simplex (EBS), with clinical manifestation, including blisters and erosions on the soles of the feet since infancy. Objective: To identify and confirm the genetic variation in a Chinese family diagnosed as localized EBS. Methods: Our study included two patients, other healthy members of the family, and 100 normal controls. Genomic DNA samples were isolated from each participant, and then polymerase chain reaction (PCR) direct sequencing was performed. Results: The results of PCR direct sequencing revealed a novel heterozygous missense mutation in codon 461 of exon 7 of KRT5 (c.1382T＞C), which led to an amino acid change (p.L461P) in the patients with EBS but was absent in unaffected family members and 100 unrelated control samples. Conclusion The present study broadens the mutational spectrum of EBS, and this knowledge could be harnessed for prenatal screening, gene diagnosis, and gene therapy for lo-calized EBS.