Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.

Background: Newborn screening (NBS) aims to detect congenital anomalies, and next-generation sequencing (NGS) has shown promise in this aspect. However, the NBS strategy for monogenic inherited diseases in China remains insufficient.

Methods: We developed a NeoEXOME panel comprising 601 genes that are relevant to the Chinese population found through extensive research on available databases.

The impact of enhanced recovery after surgery on inflammatory indicators and prognosis related to complex appendicitis in children.

Objective: To explore the application effect of enhanced recovery after surgery (ERAS) perioperative plan in the treatment of complex appendicitis in children, and further enrich the implementation plan of ERAS in the field of pediatric surgery.

Method: This study selected 122 children who underwent laparoscopic complex appendectomy at Inner Mongolia Maternal and Child Health Hospital and Baotou Fourth Hospital from August 2018 to July 2022, and randomly divided them into a traditional surgery group (TS) and an enhanced recovery surgery group (ERAS). The changes of white blood cell (WBC), hypersensitive C-reactive protein (CRP), pro Calcitonin (PCT) and interleukin 6 (IL-6) before and after surgery were compared.

The intervention effect of oil on the metabolomics and intestinal flora in pulmonary fibrosis.

oil is rich in unsaturated fatty acids such as inoleic acid (47.11%) and oleic acid (23.81%).

Expanding the Phenotypic and Genotypic Spectrum of -Related Neurodevelopmental Disorder.

Mono-allelic loss-of-function variants in have recently caused a developmental delay, intellectual disability, and epilepsy, with varying clinical expressivity. However, given the clinical heterogeneity and low-penetrance mutations of -related neurodevelopmental disorder, the robustness of the gene-disease association requires additional evidence. In this study, five novel heterozygous variants were identified in five unrelated pediatric patients with neurodevelopmental disorders, including one missense change (c.

Identification of sodium homeostasis genes in Camelus bactrianus by whole transcriptome sequencing.

Salt dietary intake is tightly coupled to human health, and excessive sodium can cause strokes and cardiovascular diseases. Research into the renal medulla of camels exhibiting high salt resistance may aid identification of the mechanisms governing resistance to high salinity. In this study, we used RNA sequencing (RNA-seq) to show that in the renal medulla of camels under salt stress, 22 mRNAs, 2 long noncoding RNAs (lncRNAs), and 31 microRNAs (miRNAs) exhibited differential expression compared with the free salt-intake diet group.

Testicular blood supply and growth in children with high cryptorchidism treated with gubernaculum preserving vs. cutting laparoscopic orchiopexy: A pilot trial.

Introduction: It is still controversial whether the frenum of testis should be retained in laparoscopic testicular fixation.

Materials And Methods: It is a prospective experiment to study testicular preservation on testicular growth in children with high cryptorchidism.

Results: From January 2018 to June 2020, 120 children with high cryptorchidism in Inner Mongolia Maternal and Child Health Care Hospital and The Fourth Hospital of Baotou were randomly divided into retention group (60 cases in group P, aged 1-3 years, average 1.

Comparison and Analysis on the Existing Single-Herbal Strategies against Viral Myocarditis.

Purpose: Herbal medicine is one of crucial symbols of Chinese national medicine. Investigation on molecular responses of different herbal strategies against viral myocarditis is immeasurably conducive to targeting drug development in the current international absence of miracle treatment.

Methods: Literature retrieval platforms were applied in the collection of existing empirical evidences for viral myocarditis-related single-herbal strategies.

Association of cesarean delivery on maternal request with neonatal iron stores at birth.

Background: Cesarean has been suggested to decrease neonatal iron stores at birth. However, few studies have differentiated the effect induced by cesarean operation from that related to medical indications.

Objectives: We aimed to estimate the association of cesarean delivery on maternal request (CDMR), a subtype of cesarean without any medical indications, with a spectrum of indicators reflecting iron stores at birth.

Exosomes Derived From Hypertrophic Cardiomyocytes Induce Inflammation in Macrophages miR-155 Mediated MAPK Pathway.

The inflammatory immune microenvironment plays an important role in the development of cardiac hypertrophy. Exosomes have emerged as the potent modulators of inflammatory responses. This study aimed to determine how exosomes derived from angiotensin II (Ang II)-induced hypertrophic cardiomyocytes (HCs) interfere with the inflammatory signal pathways in macrophages.

Ethnic disparities in postpartum hemorrhage after cesarean delivery: a retrospective case-control study.

Purpose: To explore the relationship of ethnicity and postpartum hemorrhage (PPH) for women who underwent cesarean delivery (CD) and examine the risk factors for PPH in distinct ethnic groups in China.

Methods: We conducted case-control studies with the maternity data from the 11,778 CD cases, in Xinjiang Uygur Autonomous Region. Initially, multivariable logistic regression was used to estimate the disparity of race-ethnicity on the risk of PPH in ethnic Han, Uygur, Hui and Kazakh.

Fractional 2940-nm Er:YAG laser-assisted drug delivery of timolol maleate for the treatment of deep infantile hemangioma.

Objective: To study the efficacy and safety of fractional 2940 nm laser-assisted drug delivery of timolol maleate 0.5% solution for the treatment of deep IHs.

Methods: In this study, 30 deep IHs were included, and a fractional 2940 nm laser was applied with 2-weeks intervals.

[Chromosomal abnormalities in spontaneous miscarriage specimens detected by combinatorial probe anchor synthesis-based high-throughput low coverage whole genome sequencing].

To evaluate the application of combinatorial probe anchor synthesis (cPAS)-based high-throughput low coverage whole genome sequencing in chromosomal aberration detection in spontaneous miscarriage. From September 2015 to May 2017, spontaneous miscarriage samples were collected from Inner Mongolia Maternal and Child Health Care Hospital. Those samples were further analyzed with two independent methods, fluorescence in situ hybridization (FISH) and low coverage whole genome sequencing on the BGISEQ-500 high-throughput platform.

Difference in vaginal microecology, local immunity and HPV infection among childbearing-age women with different degrees of cervical lesions in Inner Mongolia.

Background: This study aims to investigate the difference in vaginal microecology, local immunity and HPV infection among childbearing-age women with different degrees of cervical lesions.

Methods: A total of 432 patients were included in this study. Among these patients, 136 patients had LSIL, 263 patients had HSIL and 33 patients had CSCC.

Correlation between replicative senescence of endometrial gland epithelial cells in shedding and non-shedding endometria and endometriosis cyst during menstruation.

To investigate correlation between abnormal replicative senescence of endometrial gland epithelial cells (EGECs) in shedding and non-shedding endometria and endometriosis cyst during menstruation. Musashi-1 expression, β-catenin expression, and EGECs ultrastructure in shedding and non-shedding endometrium when menstruation were observed through real-time PCR and transmission electron microscopy technologies. (1) Musashi-1 and β-catenin exhibited a high expression in shedding and non-shedding endometria in experimental group, showing a positive correlation between each other; and were significantly higher than that in control group.

Association between LCE gene polymorphisms and psoriasis vulgaris among Mongolians from Inner Mongolia.

The late cornified envelope (LCE) gene cluster is located on chromosome 1q21, including LCE1-LCE6. Several single nucleotide polymorphisms (SNPs) in the LCE cluster were associated with susceptibility to psoriasis in Chinese population. However, there is no report on the relationship in ethnic minority areas in China.

Validation of transcutaneous bilirubin nomogram for identifying neonatal hyperbilirubinemia in healthy Chinese term and late-preterm infants: a multicenter study.

Objective: to prospectively validate a previously constructed transcutaneous bilirubin (TcB) nomogram for identifying severe hyperbilirubinemia in healthy Chinese term and late-preterm infants.

Methods: this was a multicenter study that included 9,174 healthy term and late-preterm infants in eight hospitals of China. TcB measurements were performed using a JM-103 bilirubinometer.

Epidemiologic survey on hospitalized neonates in China.

Objective: To carry out a nationwide epidemiologic survey on the neonates in urban hospitals with an attempt to understand the disease spectrum and treatment outcomes of hospitalized neonates in China.

Methods: The clinical data of 43,289 hospitalized neonates from 86 hospitals in 47 Chinese cities (22 provinces) between January 1, 2005 and December 31, 2005 were retrospectively analyzed.

Results: The male:female ratio was 1.