46 results match your criteria: "Children's Hospital of Kunming Medical University[Affiliation]"

Association of congenital hepatic fibrosis and Caroli's syndrome: Two illustrative cases.

Clin Res Hepatol Gastroenterol

October 2024

Department of Pathology, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, Yunnan, China. Electronic address:

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Familial NTCPD presenting with persistent hypercholanemia and co-existing with a series of novel heterozygous mutations.

Clin Res Hepatol Gastroenterol

October 2024

Department of Pathology, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming, PR China. Electronic address:

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During the treatment of 89 pediatric patients with Acute Myeloid Leukemia (AML) at the Hematology Department of Kunming Medical University's Children's Hospital from 2020 to 2023, three patients were identified to co-express the NUP98-NSD1, FLT3-ITD, and WT1 gene mutations. The bone marrow of these three patients was screened for high-risk genetic mutations using NGS and qPCR at the time of diagnosis. The treatment was administered following the China Children's Leukemia Group (CCLG)-AML-2019 protocol.

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Unlabelled: Allergic rhinitis (AR) is a global health challenge that particularly affects the quality of life of children. Human rhinovirus (HRV) infection usually causes common cold in the upper respiratory tract (URT) and can also affect airway allergy development, such as asthma exacerbation, but its relationship with AR is poorly understood. The study aimed to gain insight into the characteristics of HRV that is prevalent in AR children and its role in AR severity.

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Objectives: To study the distribution, drug resistance, and biofilm characteristics of carbapenem-resistant (CRAB) isolated from hospitalized children, providing a reference for the prevention and treatment of CRAB infections in hospitalized children.

Methods: Forty-eight CRAB strains isolated from January 2019 to December 2022 were classified into epidemic and sporadic strains using repetitive extragenic palindromic sequence-based polymerase chain reaction. The drug resistance, biofilm phenotypes, and gene carriage of these two types of strains were compared.

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Molecular characterization of coxsackievirus B5 from the sputum of pneumonia children patients of Kunming, Southwest China.

Virol J

April 2023

Department of Clinical Pharmacy, Affiliated Hospital of Yunnan University, 176 Qing Nian Road, Kunming, 650118, Yunnan Province, People's Republic of China.

Background: CVB5 can cause respiratory infections. However, the molecular epidemiological information about CVB5 in respiratory tract samples is still limited. Here, we report five cases in which CVB5 was detected in sputum sample of pneumonia children patients from Kunming, Southwest China.

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The correlation between the serum LDL-C/Apo B ratio and lumbar bone mineral density in young adults.

BMC Musculoskelet Disord

March 2023

Department of Geriatrics, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, 650034, People's Republic of China.

Background: Numerous studies have confirmed that atherosclerosis is related to osteoporosis (OP), and patients with atherosclerosis are more prone to OP. The ratio of low-density lipoprotein cholesterol (LDL-C) to apolipoprotein B (Apo B) is the valid indicator of atherosclerosis. Nevertheless, conclusions regarding relation between LDL-C/Apo B ratio and bone mineral density (BMD) are still lacking.

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Clinical impact of c-KIT and CEBPA mutations in 33 patients with corebinding factor (Non-M3) acute myeloid leukemia.

Pediatr Neonatol

July 2023

Department of Hematology, Kunming Children's Hospital (The Affiliated Children's Hospital of Kunming Medical University, Yunnan Key Laboratory of Children's Major Disease Research), Kunming Medical University, Kunming City, Yunnan province, China. Electronic address:

Background: Corebinding factor acute myeloid leukemia (CBF-AML) is the most common cytogenetic subtype of pediatric AML. CBF-AML is associated with a relatively favorable outcome, although the relapse rate of approximately 40% indicates a high degree of clinical heterogeneity. The clinical impact of additional cytogenetic aberrations, including c-KIT and CEBPA mutations, in pediatric CBF-AML has not been well characterized, especially in the multi-ethnic region of Yunnan Province in China.

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Background: Anemia in pregnancy is a serious threat to maternal and child health and is a major public health problem. However, the risk factors associated with its incidence are unclear and controversial.

Methods: PubMed, Ovid Embase, Web of Science, and Cochrane databases were systematically searched (inception to June 27, 2022).

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The spatial-temporal distribution and etiological characteristics of hand-foot-and-mouth disease before and after EV‑A71 vaccination in Kunming, China, 2017-2020.

Sci Rep

October 2022

Department of Pathology, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, Institute of Pediatric Disease Research in Yunnan, Kunming, 650228, People's Republic of China.

After vaccination with enterovirus 71 (EV-A71), the prevalence of hand-foot-and-mouth disease (HFMD) remained high, and the spatial-temporal distribution of enteroviruses changed. Therefore, it is essential to define the temporal features, spatial distributions, and epidemiological and etiological characteristics of HFMD in Kunming. Between 2017 and 2020, a total of 36,540 children were diagnosed with HFMD in Kunming, including 32,754 children with enterovirus-positive clinical samples.

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Scrub typhus is a zoonotic disease caused by , which is transmitted by larval trombiculid mites. Due to nonspecific clinical presentation, scrub typhus is grossly underdiagnosed in pregnant women, fetuses and neonates. Here, we present a congenital infection case and hope to provide more insight into this disease.

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Background: Xp21 contiguous gene deletion syndrome is a rare genetic metabolic disorder with poor prognosis in infants, involving deletions of one or more genes in Xp21. When deletions of adrenal hypoplasia (AHC), Duchenne muscular dystrophy (DMD), and chronic granulomatosis (CGD) loci are included, complex glycerol kinase deficiency (CGKD) can be diagnosed. We present a case of CGKD that was initially misdiagnosed and died during treatment in our hospital in terms of improving our understanding of the clinical features and diagnosis of this disease, as well as highlighting the need for more precise dosing of corticosteroid replacement therapy.

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Scaphoid fracture is the most common carpal fracture, accounting for 50%-80% of all carpal fractures in the Youngers and manual workers. The nonunion rate of scaphoid fractures was approximately 10-15%. Scaphoid nonunion can lead to wrist deformity, wrist collapse, ischemic necrosis, and traumatic osteoarthritis resulting in the loss of wrist function and seriously influence the patients' lives.

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The correlation between serum total alkaline phosphatase and bone mineral density in young adults.

BMC Musculoskelet Disord

May 2022

Department of Geriatrics, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, 650034, Yunnan, People's Republic of China.

Background: Elevated total alkaline phosphatase (T-ALP) levels are usually indicative of enhanced osteoblastic activity and bone conversion status and are thus considered as a key factor needed for fresh bone mineralization and synthesis. To date, there is no consistent conclusion on the association between the serum T-ALP levels and bone mineral density (BMD). Therefore, the present study focused on exploring the association of serum T-ALP with lumbar BMD among young adults.

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Genetic Variants in Chinese Han, Uighur, Kirghiz, and Dai Nationalities.

Front Pediatr

April 2022

Department of Hematology/Oncology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Background: Thiopurines are widely used as anti-cancer and immunosuppressant agents, but have a narrow therapeutic index owing to frequent toxicity and life-threatening bone marrow suppression. The () genetic polymorphism is strongly associated with the tolerance and myelosuppressive effect of mercaptopurine administration, but the frequency of variants is known to vary among different ethnic groups or nationalities. At present, the gene polymorphism in ethnic minorities such as the Uighur, Kirghiz, and Dai nationalities in China is unclear.

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Pregnant women have been ubiquitously exposed to pyrethroid pesticides. Previous studies, mainly based on third trimester measurements of maternal urinary pyrethroid metabolites, have reported inconsistent findings in the effects of prenatal pyrethroid exposure on children's neurodevelopmental outcomes. The purpose of this study was to clarify if pyrethroid exposure during the entire three trimesters of pregnancy may be associated with deleterious effects on infant neurodevelopmental status, particularly at a high dosage of exposure.

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Type 2 congenital generalized lipodystrophy with a heterozygous missense NOTCH2 mutation.

Eur J Clin Nutr

July 2022

Yunnan Key Laboratory of Children's Major Disease Research, Kunming, China.

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease with a prevalence of less than one in ten million. To our knowledge, ~500 cases, including 95% of BSCL2, have been reported in the literatures, but no types of CGL with NOTCH2 gene mutation has been described.

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The genes for sensory perception of sound should be considered in gene diagnosis of congenital sensorineural hearing loss and microtia.

J Appl Genet

May 2022

Department of Otolaryngology, Head and Neck Surgery, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University, 288 Qianxing Road, Xishan, Kunming, 650228, Yunnan, People's Republic of China.

Article Synopsis
  • Congenital sensorineural hearing loss (CSHL) and microtia are conditions that affect how children hear and develop.
  • Researchers studied families with these conditions to find common genes and mechanisms that link them together.
  • They discovered that both conditions share a pathway related to how we perceive sound, suggesting that certain genes might help diagnose and understand these diseases better.
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Long non-coding RNAs (lncRNAs) play important roles in human diseases. They control gene expression levels and influence various biological processes through multiple mechanisms. Functional abnormalities in lncRNAs are strongly associated with occurrence and development of various diseases.

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6-Mercaptopurine (6-MP) is the cornerstone of current antileukemia regimen and contributes greatly to improve the survival of pediatric acute lymphoblastic leukemia (ALL) patients. However, 6-MP dose-related toxicities limit its application. , and are pharmacogenetic markers predicting 6-MP-related toxicities, but their genetic polymorphisms differ from those of ethnic populations.

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Objectives: Immunoglobulin A vasculitis (IgAV), previously known as Henoch-Schönlein purpura, is the most common vasculitis that has a classical skin manifestation of palpable purpuric rash. Factors pertinent to IgAV remain inadequately understood. Here, we aimed to examine the gut microbiome shifts associated with IgAV and its recovery.

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Aims: Developmental dysplasia of the hip (DDH) is a complex musculoskeletal disease that occurs mostly in children. This study aimed to investigate the molecular changes in the hip joint capsule of patients with DDH.

Methods: High-throughput sequencing was used to identify genes that were differentially expressed in hip joint capsules between healthy controls and DDH patients.

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Two cases of hand, foot and mouth disease caused by enterovirus A71 after vaccination.

Int J Infect Dis

July 2021

Institute of Paediatrics, The Kunming Children's Hospital of Kunming Medical University, Kunming, PR China; Yunnan Key Laboratory of Children's Major Disease Research, Kunming, PR China. Electronic address:

Background: Enterovirus A71 (EVA71) is one of the main pathogens causing hand, foot and mouth disease (HFMD). In China, the proportion of cases of HFMD caused by EVA71 is known to be significantly lower following EVA71 vaccination; however, infection with EVA71 can still occur after vaccination.

Methods: The complete genomic sequences of EVA71-KM18A and KM18B (from two rare cases of EVA71 infection following vaccination) were obtained.

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