Debridement and bone graft fusion via the lateral extracavitary approach combined with lateral and posterior screw-rod fixation in the treatment of thoracic spinal tuberculosis: A retrospective study of 38 cases.

Objectives: Thoracic spinal tuberculosis (TB) is still common, and surgical treatment can rapidly relieve pain, correct deformity, reduce bone loss and prevent further damage to neurological function. We have practiced an efficient and safe surgical method.

Methods: From January 2013 to April 2021, 38 patients with thoracic spinal TB were included in our study.

[Analysis of a Chinese pedigree with female infertility due to WEE2 gene c.495del homozygous frameshifting variant induced fertilization disorder].

Objective: To explore the genetic basis for a patient with repeated fertilization failure during assisted reproductive therapy, and to identify the source and mode of mutation.

Methods: A couple treated at the Center for Reproductive Medicine, Gansu Provincial Maternal and Child Health Care Hospital in January 2024 for infertility with incomplete left tube obstruction was selected as the study subject. Relevant clinical data was collected.

Application of enhanced recovery after surgery during the perioperative period in children with Meckel's diverticulum-a single-center prospective clinical trial.

Background: Enhanced recovery after surgery (ERAS) has been widely used in adult surgery. However, few studies have reported the efficacy of ERAS in paediatric patients with Meckel's diverticulum (MD), the aim of the study was to prospectively evaluate the safety and efficacy of ERAS in treating MD.

Methods: A prospective randomised controlled study of children with MD admitted to our hospital from Jan 1, 2021 to Dec 31, 2023 were conducted, we developed and implemented an ERAS program for this patients.

[Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene].

Objective: To analyze the clinical phenotype and genotypes of two children with Carnitine-acylcarnitine translocase deficiency (CACTD).

Methods: Two children diagnosed with CACTD at the Gansu Provincial Maternal and Child Health Care Hospital respectively on January 3 and November 19, 2018 were selected as the study subjects. Trio-whole exome sequencing (trio-WES) was carried out, and candidate variants were validated through Sanger sequencing and pathogenicity analysis.

[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome].

Objective: To explore the genetic basis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency (OTCD) and MECP2 duplication syndrome.

Methods: A proband who was admitted to the Neonatal Intensive Care Unit of Gansu Provincial Maternal and Child Health Care Hospital on December 19, 2017 was selected as the study subject. High-throughput sequencing and multiplex ligation-dependent probe amplification (MLPA) were carried out for her pedigree, and short tandem repeat-based linkage analysis and chromosome copy number variation sequencing (CNV-seq) were used for the prenatal diagnosis.

[Analysis of the common respiratory viruses in children with acute respiratory infection in a hospital in Lanzhou City from 2021 to 2022].

To explore the situation of 8 common respiratory pathogens in children with acute respiratory infection (ARI) from 2021 to 2022.The retrospective study selected 8 710 ARI patients from September 2021 to August 2022 in the Maternal and Child Health Hospital of Gansu Province as the study object, patients aged 0 to 17 years old, including 5 048 male children and 3 662 female children. Indirect immunofluorescence was used to detect 8 common respiratory pathogens, including influenza virus A (FluA), influenza virus B (FluB), parainfluenza virus (PIV), respiratory syncytial virus (RSV), adenovirus (ADV), Mycoplasma pneumoniae (MP), Chlamydia pneumoniae (CP), and Coxsackie virus group B (CoxB) IgM antibodies.

[Clinical features and genetic analysis of a child with acute form of Tyrosinemia type I due to a novel variant of FAH gene].

Objective: To analyze the clinical phenotype and genetic basis for a child with acute form of tyrosinemia type I (TYRSN1).

Methods: A child with TYRSN1 who presented at the Gansu Provincial Maternal and Child Health Care Hospital in October 2020 was selected as the subject. The child was subjected to tandem mass spectrometry (MS-MS) and urine gas chromatography-mass spectrometry (GC-MS) for the detection of inherited metabolic disorders, in addition with whole exome sequencing (WES).

Genomic Copy Number Variants in CML Patients With the Philadelphia Chromosome (Ph+): An Update.

Background: Submicroscopic segmental imbalances detected by array-comparative genomic hybridization (array-CGH) were discovered to be common in chronic myeloid leukemia (CML) patients with (9;22) as the sole chromosomal anomaly. To confirm the findings of the previous study and expand the investigation, additional CML patients with (9;22) as the sole chromosomal anomaly were recruited and copy number variants (CNVs) were searched for.

Methods: Karyotyping tests were performed on 106 CML patients during January 2010-September 2019 in our Genetics Laboratory.

Urothelial cancer associated 1 (UCA1) regulates trophoblast viability, proliferation, and migration via modulating the UCA1/miR-455/RUNX2 signaling pathway.

Spontaneous abortion (SA) is the spontaneous loss of a pregnancy before 20 gestational weeks. The causes of SA are still largely unknown. Long noncoding RNA (lncRNA) urothelial cancer associated 1 (UCA1) plays an important role in cellular progress.

[Analysis of genetic variant in a child with concomitant spinal muscular atrophy and Citrin protein deficiency].

Objective: To explore the genetic basis for a child with concomitant spinal muscular atrophy (SMA) and Citrin protein deficiency.

Methods: The child was subjected to whole exome sequencing by using target sequence capture high-throughput sequencing. Candidate variants were verified by Sanger sequencing.

A novel variant in a Chinese couple with hearing loss.

Objective: To perform molecular diagnosis and genetic counseling in a young Chinese couple with congenital hearing loss.

Methods: Variant screening analysis was performed by PCR and direct Sanger sequencing or targeted next-generation sequencing of all known hearing loss genes. Novel variants were evaluated by PolyPhen2 and PROVEAN software tools to evaluate possible effects on protein function.

[Identification of a novel PAX6 mutation in a sporadic case with congenital aniridia].

Objective: To identify mutation of the PAX6 gene in a patient with congenital aniridia.

Methods: DNA was extracted from peripheral blood sample of the patient and analyzed by direct PCR-Sanger sequencing.

Results: The proband was found to harbor a heterozygous c.

[Congenital central hypoventilation syndrome: analysis of PHOX2B gene mutation in a case].

OBJECTIVE To report on the phenotype of an infant with central hypoventilation syndrome (CCHS) and result of PHOX2B gene mutation analysis for the purpose of genetic counseling and prenatal diagnosis. METHODS Clinical data of an infant with CCHS was collected and analyzed. Potential mutation of PHOX2B gene was analyzed by amplified fragment length polymorphism (amp-FLP) and DNA sequencing.

[The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family].

Objective: To characterize the mutation spectrum of phenylalanine hydroxylase (PAH) gene and perform prenatal diagnosis for families with classical phenylketonuria.

Methods: By stratified sequencing, mutations were detected in the exons and flaking introns of PAH gene of 44 families with classical phenylketonuria. 47 fetuses were diagnosed by combined sequencing with linkage analysis of three common short tandem repeats (STR) (PAH-STR, PAH-26 and PAH-32) in the PAH gene.