Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) gene polymorphisms and five related serum molecular levels in 2587 patients: Associated differentially with adverse pregnancy.

Background: The aim of the study is to investigate the relationship between Methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR) polymorphisms, 5 serum related molecular levels and the risk of adverse pregnancies in different genders.

Methods: Patients aged from 22 to 38 with a history of adverse pregnancy treated in our genetic eugenics clinic of Henan Provincial People's Hospital are selected. The controls aged from 20 to 34 undergoing eugenics examinations in our genetic eugenics clinic that had no history of adverse pregnancy and at least one healthy child are selected.

Cortical gray-white matter contrast abnormalities in male children with attention deficit hyperactivity disorder.

Purpose: Presently, research concerning alterations in brain structure among individuals with attention deficit hyperactivity disorder (ADHD) predominantly focuses on entire brain volume and cortical thickness. In this study, we extend our examination to the cortical microstructure of male children with ADHD. To achieve this, we employ the gray-white matter tissue contrast (GWC) metric, allowing for an assessment of modifications in gray matter density and white matter microstructure.

Exploring White Matter Abnormalities in Young Children with Autism Spectrum Disorder: Integrating Multi-shell Diffusion Data and Machine Learning Analysis.

Rationale And Objectives: This study employed tract-based spatial statistics (TBSS) to investigate abnormalities in the white matter microstructure among children with autism spectrum disorder (ASD). Additionally, an eXtreme Gradient Boosting (XGBoost) model was developed to effectively classify individuals with ASD and typical developing children (TDC).

Methods And Materials: Multi-shell diffusion weighted images were acquired from 62 children with ASD and 44 TDC.

Quantitative Relaxometry Assessment of Brain Microstructural Abnormality of Preschool Children With Autism Spectrum Disorder With Synthetic Magnetic Resonance Imaging.

Objective: This study aimed to perform an assessment of brain microstructure in children with autism aged 2 to 5 years using relaxation times acquired by synthetic magnetic resonance imaging.

Materials And Methods: Thirty-four children with autism spectrum disorder (ASD) (ASD group) and 17 children with global developmental delay (GDD) (GDD group) were enrolled, and synthetic magnetic resonance imaging was performed to obtain T1 and T2 relaxation times. The differences in brain relaxation times between the 2 groups of children were compared, and the correlation between significantly changed T1/T2 and clinical neuropsychological scores in the ASD group was analyzed.

HNRNPC mediated mA methylation of 5-methyltetrahydrofolate-homocysteine methyltransferase and involved in the occurrence of RSA.

N-methyladenosine methylated modification has been shown to play roles in recurrent spontaneous abortion. We aimed to explore role of heterogeneous nuclear ribonucleoprotein C in the occurrence of recurrent spontaneous abortion. We collected embryonic villous tissues from 3 patients with recurrent spontaneous abortion (RSA group) and 3 normal control pregnancy patients.

Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis.

Background: In the past decade, SETBP1 has attracted a lot of interest on that the same gene with different type or level (germline or somatic) of variants could provoke different pathologic consequences such as Schinzel-Giedon syndrome, SETBP1 Haploinsufficiency Disorder (SETBP1-HD) and myeloid malignancies. Whole exome sequencing was conducted to detect the etiology of a pregnant woman with mental retardation. As a new oncogene and potential marker of myeloid malignancies, somatic SETBP1 variants in other cancers were rarely studied.

[Cytogenetic and molecular analysis of a case of Prader-Willi syndrome].

Objective: To investigate the significance of cytogenetic and molecular genetic diagnosis of a special type of secondary sexual dysplasia and the applicability of various methods for its detection.

Methods: Using karyotype analysis, array comparative genomic hybridization (aCGH), multiplex ligation-dependent probe amplification (MLPA) and methylation-specific PCR (MS-PCR), we diagnosed and differentially diagnosed a case of secondary sexual dysplasia.

Results: Abnormalities were not found in the karyotype analysis or the SRY and AZF gene detection, nor chromosomal duplication and deletion in the initial SurePrint G3 Human CGH Array Kit8×60K.

Cloning, expression and enzyme activity delineation of two novel CANT1 mutations: the disappearance of dimerization may indicate the change of protein conformation and even function.

Background: Desbuquois dysplasia (DBQD) was a rare autosomal recessive skeletal dysplasia. Calcium activated nucleotidase 1 (CANT1) mutation was identified as a common pathogenic change for DBQD type 1 and Kim variant but not for DBQD type 2. To our knowledge, all patients with DBQD type 1 currently found could be explained by mutations in the CANT1 gene, but mutations in the CANT1 gene might not be directly diagnosed as DBQD type 1.

A novel mutation within intron 17 of the CUL7 gene results in appearance of premature termination codon.

A couple with five adverse pregnancy history required prenatal diagnosis. The fetus of this study was their fifth pregnancy. The fetus was found NT thickening at 12 weeks and 4 days gestation and the average long bone of limbs retardation 4SD at 27 weeks and 4 days gestation.

[Phenotypic and genetic analysis of a child carrying a 17q11.2 microdeletion].

Objective: To analyze a child with facial abnormalities with combined cytogenetic and molecular techniques and delineate its clinical phenotype.

Methods: Neuropsychological profile of the child was analyzed. Color Doppler, CT and MRI were used for detecting the nodules in the body.

[Application of array comparative genomic hybridization in prenatal diagnosis of a case with 5q35 deletion syndrome].

Objective: To use combined G-banding and array-comparative genomic hybridization (aCGH) for the prenatal diagnosis of a fetus with 5q35 deletion syndrome.

Methods: Chromosomal karotypes of the fetus and parents were analyzed with G-banding analysis. aCGH was performed to detect minor chromosomal structural abnormalities.

[Association of SPO11 and GST gene polymorphisms with idiopathic male infertility in ethnic Han Chinese].

Objective: To explore the possible roles of polymorphisms of SPO11 and glutathionine S-transferase (GST) genes in idiopathic male infertility in a ethnic Han Chinese population from Henan.

Methods: Multiplex PCR and DNA sequencing were performed to determine the SPO11 c.517C>T(rs28368082) and GST genes (GSTM1, GSTT1, GSTP1) polymorphisms in 216 idiopathic male infertility cases and 198 normal samples.