OBJECTIVE To improve the inventory turnover rate of traditional Chinese medicine （TCM） decoction pieces in hospitals and achieve refined inventory management for cost reduction and efficiency improvement. METHODS Inventory data of TCM decoction pieces in our hospital from 2022 to 2023 were collected. Based on the sale amount and demand coefficient of variation respectively， the ABC classification method and XYZ analysis method were adopted for classification. The two classification results were combined through a cross matrix to divide them into three-level management priorities： level Ⅰ （AX， AY， BX）， level Ⅱ （AZ， BY， CX）， and level Ⅲ （BZ， CY， CZ）. Differentiated inventory strategies were formulated for each level， and core indicators such as turnover rate and inventory cost before and after inventory management optimization were compared. RESULTS There were 58 types （14.22%） in level Ⅰ， 85 types （20.83%） in level Ⅱ， and 265 types （64.95%） in level Ⅲ. After inventory management optimization， the average inventory value of TCM decoction pieces decreased by 341 800 yuan， the average turnover rate increased by 73.03%， and the average turnover days decreased by 4.98 days. The differences in all indicators before and after optimization were statistically significant （ P ＜0.01）. CONCLUSIONS The ABC-XYZ analysis method can break through the single-dimensional limitation of the traditional ABC classification method， adapt to characteristics such as the strong seasonality of TCM decoction pieces， significantly optimize the inventory structure， improve turnover efficiency， and reduce operating costs. It provides a feasible plan for the refined and scientific management of hospital TCM warehouses.

On July 1， 2026， Hepatology International published online the APASL clinical practice guidance on the diagnosis and management of patients with Wilson’s disease. The guidance formulates 22 recommendations for Wilson’s disease from the aspects of clinical manifestations， laboratory and imaging diagnostics， genetic testing， family screening， lifestyle modifications， pharmacotherapy， liver transplantation， pregnancy management， and care for asymptomatic/presymptomatic patients. This article systematically reviews the core contents of this guidance， with a particular focus on the excerpted recommendations for diagnosis and treatment， in order to provide a practical reference for the clinical identification， diagnosis， and long-term management of patients with Wilson’s disease.

Hereditary hemochromatosis （HH） is a hereditary disease characterized by iron overload resulting from mutations in genes involved in iron metabolism. Type ⅣA HH， also known as classical ferroportin disease， is caused by loss-of-function mutations in the SLC40A1 gene and has the clinical manifestations of a significant increase in serum ferritin， normal or low transferrin saturation， and marked iron deposition in the spleen. This article reports a case of type ⅣA HH with a significant asymptomatic increase in serum ferritin. Magnetic resonance imaging showed that the severity of iron overload in the spleen was significantly higher than that in the liver； liver biopsy showed mild fatty liver disease and iron deposition in Kupffer cells； gene variation analysis identified a heterozygous mutation in SLC40A1 c.485_487del （p.Val162del）. Screening of family members showed that the proband’s mother carried the same variation and had the manifestation of iron overload in the liver and spleen， which further confirmed the pathogenicity of this variation. This case highlights that type ⅣA HH often has an insidious onset and is frequently misdiagnosed. For patients with an unexplained persistent increase in serum ferritin， active genetic testing for HH should be considered， even in the presence of concurrent liver diseases， in order to realize early diagnosis and intervention.

OBJECTIVE: To investigate the clinical and genetic features of a Chinese pedigree with Progressive familial intrahepatic cholestasis (PFIC) and explore its genotype-phenotype correlation. METHODS: A patient with PFIC diagnosed at Xinxiang Central Hospital in 2023 was selected as the study subject. The patient was subjected to abdominal magnetic resonance imaging (MRI) and painless gastroscopy. Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA and trio-whole exome sequencing (trio-WES). Candidate variants were verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of Xinxiang Hospital (Ethics No. 2023-241). RESULTS: MRI scan showed that the patient had significantly enlarged liver and spleen. WES revealed that he has harbored compound heterozygous variants of the ATP8B1 gene, including a c.1710_1711insCCTC (p.A571Pfs*12) frameshifting variant in exon 16 and a c.2989G>A (p.V997M) missense variant in exon 24, which were respectively inherited from his father and mother, and rated as pathogenic (PVS1+PM2_Supporting+PM3+PP1) and likely pathogenic (PM2_Supporting+PM3+PP1) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). CONCLUSION WES can clarify the genetic etiology of patients with speed and accuracy, and facilitate clinical decision-making. The detection of pathogenic variants has provided a basis for clinical diagnosis and enriched the mutational spectrum of the ATP8B1 gene.
Humans ; Male ; Pedigree ; Cholestasis, Intrahepatic/diagnostic imaging* ; Adenosine Triphosphatases/genetics* ; Female ; Adult ; Exome Sequencing ; Mutation ; East Asian People

OBJECTIVE: To analyze the clinical and genetic features of a child with Primary ciliary dyskinesia (PCD) due to compound heterozygous variants of the CCDC39 gene and a 22q11.21 deletion, and to explore the potential role of the two types of variants in the formation of complex phenotypes. METHODS: A child presented at the Shanxi Children's Hospital in March 2025 due to multiple congenital anomalies was selected as the study subject. Peripheral blood samples were taken from the child and her parents and subjected to whole-exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Effect of splicing variant was predicted using SpliceAI, and pathogenicity was assessed based on the ACMG guidelines. Copy number variation (CNV) analysis was also performed. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No.: IRB-WZ-2025-019). RESULTS: The patient has exhibited multiple features including severe pneumonia, bronchiectasis, localized pulmonary emphysema, scoliosis, tetralogy of Fallot, and atrial septal defect. Genetic testing revealed that she has harbored compound heterozygous variants of the CCDC39 gene, namely c.1167+1G>A and c.1009A>T, which were inherited from her father and mother, respectively, with the latter being a novel likely pathogenic variant. In addition, a heterozygous deletion of approximately 708 kb at 22q11.21 was detected. CONCLUSION The coexistence of CCDC39 gene variants and a 22q11.21 deletion may underlay the development of complex clinical phenotypes in this child.
Humans ; Female ; Chromosomes, Human, Pair 22/genetics* ; Chromosome Deletion ; DNA Copy Number Variations/genetics* ; Child ; Ciliary Motility Disorders/genetics* ; Exome Sequencing

Objective:To explore the clinicopathological and molecular genetic characteristics of anaplastic lymphoma kinase (ALK)-rearranged renal cell carcinoma (RCC), including a rare case with the TPM1-ALK gene subtype.Methods:Three cases of ALK-rearranged RCC diagnosed in the Department of Pathology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China from January 2020 to December 2024 were collected. Their clinical pathological and next-generation sequencing (NGS) data were analyzed. Relevant literature was also reviewed, and follow-ups were carried out.Results:Among the three patients, there were 1 female (case 1) and 2 males (cases 2 and 3), with the ages of 29,41 and 44 years, respectively. All of them were presented with space-occupying renal lesions. Case 1 (KIAA1217-ALK RCC) showed mixed cystic and solid components under the microscope, with tubular, papillary, and cribriform arrangements. The tumor cells had clear boundaries, and were cubic or low columnar, arranged in a single layer, pseudostratified or in sheets. The cytoplasm was abundant and eosinophilic, and part of the cytoplasm was vacuolated, as if there was accumulation of mucoid substances. The tumor cell nuclei were oval with prominent nucleoli. A large amount of mucus and inflammatory cell infiltration were noted in the stroma. Case 2 (TPM1-ALK RCC) showed a papillary growth pattern, with small, slender papillae accompanied by branches. The cells were arranged in a single layer, and the cytoplasm was either eosinophilic or clear. Foamy cells were aggregated in the stroma, accompanied by psammoma body-like calcifications. Case 3 (EML4-ALK RCC) was characterized by papillary and tubulocystic structures. The cytoplasm was abundant and eosinophilic. The tumor cell nuclei were large, with prominent nucleoli. There was conspicuous infiltration of lymphocytes and neutrophils in the fibromuscular stroma. The tumor cells all expressed epithelial markers, PAX8, GATA3, P504s and FH. ALK (5A4) staining showed diffuse strong expression in the cytoplasm, while TFE-3 was positive (nuclear stain) only in case 1 and case 3. The fluorescence in situ hybridization showed that ALK gene rearrangement was present in all three cases, while TFE-3 gene rearrangement/mutation was not detectable in case 1 and case 3. NGS showed the KIAA1217::ALK fusion (the fusion site in the exon 11 of KIAA1217 and exon 18 of ALK) in case 1, the TPM1::ALK fusion (the exon 8 of TPM1 and exon 20 of ALK) in case 2, and the EML4::ALK fusion (the exon 2 region of EML4 and the exon 20 region of ALK) in case 3.Conclusions:ALK-rearranged RCC has unique molecular characteristics. Its histological morphology is easily confused with that of papillary RCC and TFE3-rearranged RCC. Both immunohistochemistry and gene rearrangement tests should be used to confirm the diagnosis.

Objective:To analyze the clinical and genetic features of a child with Primary ciliary dyskinesia (PCD) due to compound heterozygous variants of the CCDC39 gene and a 22q11.21 deletion, and to explore the potential role of the two types of variants in the formation of complex phenotypes. Methods:A child presented at the Shanxi Children′s Hospital in March 2025. due to multiple congenital anomalies was selected as the study subject. Peripheral blood samples were taken from the child and her parents and subjected to whole-exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Effect of splicing variant was predicted using SpliceAI, and pathogenicity was assessed based on the ACMG guidelines. Copy number variation (CNV) analysis was also performed. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No.: IRB-WZ-2025-019).Results:The patient has exhibited multiple features including severe pneumonia, bronchiectasis, localized pulmonary emphysema, scoliosis, tetralogy of Fallot, and atrial septal defect. Genetic testing revealed that she has harbored compound heterozygous variants of the CCDC39 gene, namely c. 1167+ 1G>A and c. 1009A>T, which were inherited from her father and mother, respectively, with the latter being a novel likely pathogenic variant. In addition, a heterozygous deletion of approximately 708 kb at 22q11.21 was detected. Conclusion:The coexistence of CCDC39 gene variants and a 22q11.21 deletion may underlay the development of complex clinical phenotypes in this child.

Objective:To analyze the epidemiological characteristics of influenza-like illness（ILI）and the genetic evolutionary trends of the hemagglutinin（HA）and neuraminidase（NA）genes of influenza A（H3N2）viruses isolated in Baotou during the 2022-2023 influenza season.Methods:Etiological surveillance data for ILI cases in Baotou during the 2022-2023 influenza season were collected from the China Influenza Surveillance Information System. Descriptive statistical analysis was performed on the data. HA and NA genes of 30 influenza A（H3N2）viruses were sequenced. Amino acid variation sites，glycosylation sites，drug resistance genes，and phylogenetic trees were analyzed using MEGA 11 software and the NextClade online analysis tool.Results:A total of 1 443 ILI specimens were tested，of which 241（16.70%）were positive for influenza viruses. Among the positive cases，influenza A（H3N2）virus-positive cases accounted for 75.93%（183/241）. The nucleotide sequence similarity of the HA gene between the 30 influenza A（H3N2）isolates and the vaccine strains A/Hong Kong/2671/2019（H3N2），A/Cambodia/e0826260/2020（H3N2），and A/Darwin/9/2021（H3N2）ranged from 96.83% to 98.77%，while the amino acid sequence similarity ranged from 94.63% to 99.62%. A total of 14 amino acid variation sites and 11 conserved glycosylation sites were identified in the HA gene. For the NA gene，the nucleotide sequence similarity ranged from 98.37% to 99.65%，and the amino acid sequence similarity ranged from 94.64% to 98.28%. A total of three amino acid variation sites and nine conserved glycosylation sites were found in the NA gene. None of the 30 influenza A（H3N2）isolates had mutations associated with drug resistance，and all belonged to the clade 3C.2a1b.2a.2a.3a.1.Conclusions:During the 2022-2023 influenza season in Baotou，the circulating influenza A（H3N2）viruses belong to the same evolutionary clade as the 2021-2022 vaccine strain A/Cambodia/e0826360/2020（H3N2）. The isolates from different sources share a common evolutionary origin；however，variations are observed across the genome in terms of homology，molecular mutations，and glycosylation patterns.

Objective:To investigate the clinical and genetic features of a Chinese pedigree with Progressive familial intrahepatic cholestasis (PFIC) and explore its genotype-phenotype correlation.Methods:A patient with PFIC diagnosed at Xinxiang Central Hospital in 2023 was selected as the study subject. The patient was subjected to abdominal magnetic resonance imaging (MRI) and painless gastroscopy. Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA and trio-whole exome sequencing (trio-WES). Candidate variants were verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of Xinxiang Hospital (Ethics No. 2023-241).Results:MRI scan showed that the patient had significantly enlarged liver and spleen. WES revealed that he has harbored compound heterozygous variants of the ATP8B1 gene, including a c. 1710_1711insCCTC (p.A571Pfs*12) frameshifting variant in exon 16 and a c. 2989G>A (p.V997M) missense variant in exon 24, which were respectively inherited from his father and mother, and rated as pathogenic (PVS1+ PM2_Supporting+ PM3+ PP1) and likely pathogenic (PM2_Supporting+ PM3+ PP1) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Conclusion:WES can clarify the genetic etiology of patients with speed and accuracy, and facilitate clinical decision-making. The detection of pathogenic variants has provided a basis for clinical diagnosis and enriched the mutational spectrum of the ATP8B1 gene.

This study analyzed the epidemiological characteristics and trends of respiratory syncytial virus (RSV) infections among inpatients with acute respiratory infections (ARI) in a children′s hospital in Shenzhen City inpatients from 2020 to 2023. From January 2020 to December 2023, multiple reverse transcription polymerase chain reaction (RT-PCR) combined with capillary electrophoresis fragment analysis technology was used to detect the nucleic acids of 12 respiratory pathogens, including RSV, in hospitalized children diagnosed with ARI. The patients were divided into six age groups: 0 to <6 months, 6 months to <1 year, 1 to <2 years, 2 to <5 years, 5 to <10 years, and 10 to <18 years. A total of 53 033 children were tested, including 6 830 RSV positive cases, with an overall positivity rate of 12.88%. The annual RSV positivity rates from 2020 to 2023 were 20.04%, 16.18%, 4.89%, and 13.33%, respectively, with statistically significant differences between the years ( χ2=1 185.994, P<0.001). The positive rate of RSV detection decreased with increasing age across all years (all P trend<0.05). From 2020 to 2023, the proportion of RSV-positive cases aged 2 to 5 years and older showed an increasing trend ( P trend<0.001 for all years). Compared to 2023, the median age of RSV-infected children was lower in 2020 ( Z=7.826, P<0.001) and 2021 ( Z=6.106, P<0.001). The proportion of severe infections requiring ICU admission did not change significantly across all years ( χ2=0.179, P=0.981). The RSV epidemic season in 2020 mainly occurred during 28-43 weeks, and in 2021, it spanned from 22-43 weeks. However, in 2022, the season was delayed until the 49th week and lasted for three weeks. In 2023, the seasonal epidemic appeared earlier, starting in the 14th week and lasting for 28 weeks. From 2020 to 2023, the rate of RSV co-infections with other pathogens (mycoplasma pneumoniae, human parainfluenza virus, human bocavirus, human coronavirus, human metapneumovirus, and influenza A) significantly increased (all P trend<0.01). In conclusion, the epidemiological characteristics of RSV infections in Shenzhen Children′s Hospital changed from 2020 to 2023. In 2022, there were only delayed, low-intensity and short-lived seasonal epidemics. However, in 2023, there was an earlier and prolonged epidemic, with increased infections in children aged 2 to 5 years and older and a rise in co-infections, while the proportion of severe infections requiring ICU admission remained unchanged.