Proteomic analysis of serum from a MeCP2 patient reveals an arginine biosynthesis pathway affected by the p.Lys254* variant.

Key Clinical Message: This study reports a Chinese male patient with a novel MeCP2 p.Lys254*variant. Upon birth, the patient presented with typical symptoms, such as abnormal electroencephalogram, immature sleep rhythm, hypotonia, feeding difficulties, pulmonary fluid accumulation, horizontal fissures in the lungs, hypoventilation, and heart defects.

Analysis of the duration of exclusive breastfeeding in premature infants and its influencing factors.

Purpose: The purpose of this study was to investigate the duration of breastfeeding among preterm infants within the first 12 months after birth and analyzed factors influencing the duration of exclusive breastfeeding.

Design And Methods: In this retrospective study, premature infants who were hospitalized in the Neonatal Intensive Care Unit (NICU) premature delivery area of a third-class maternal and child health hospital in Changsha City, Hunan Province, China from October 2020 to January 2021 were selected as the participants for this study. Relevant data of these infants during their hospitalization was obtained from the hospital information system, while the rate of exclusive breastfeeding among preterm infants at a corrected age of 12 months was tracked through telephone follow-up.

A de novo mutation of ADAMTS8 in a patient with Wiedemann-Steiner syndrome.

Background: Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant disorder caused by mutations in the KMT2A gene and is usually characterized by hairy elbows, short stature, developmental delay, intellectual disability and obvious facial dysmorphism.

Case Presentation: Here, we report a 5-year-old girl with clinical features similar to WDSTS, including postnatal growth delay, retarded intellectual development, and ocular hypertelorism. Through whole-exome sequencing (WES), a frameshift variant of KMT2A was found in the patient but not in her parents' genomic DNA.

Circ_0001666 upregulation promotes intestinal epithelial cell fibrosis in pediatric Crohn's disease via the SRSF1/BMP7 axis.

The epithelial-mesenchymal transition (EMT) is closely associated with Crohn's disease (CD) related intestinal fibrosis, a condition whose prevalence is increasing annually among children. Recently, the CD marker gene microarray screening revealed an upregulation of circ_0001666 in the colon tissues of CD patients, but its underlying mechanisms remain unclear. In this study, we explored the molecular mechanism of circ_0001666 in regulating EMT-mediated fibrosis in CD in vitro.

Underdevelopment of gut microbiota in failure to thrive infants of up to 12 months of age.

Laboratory and clinical studies have revealed the importance of gut microbiota in children with severe pediatric pathological conditions such as severe acute malnutrition (SAM); however, under relatively milder conditions such as, failure to thrive (FTT), the role of the gut microbiota remains poorly characterized. Here, we analyzed stool samples from 54 subjects with a clinical diagnosis of failure to thrive (FTT), 49 preterm subjects with corrected normal growth (NFTT-pre), and 49 healthy subjects (NFTT) between 3-12 months of age using 16S rRNA gene sequencing. We observed that the clinical condition of FTT, age, head circumference, intrauterine growth restriction (IUGR), and feeding methods significantly affected gut microbiota.

The clinical spectrum of a nonsense mutation in : a case report.

KAT6A syndrome is an autosomal dominant genetic disorder associated with intellectual disability due to mutations in the lysine acetyltransferase 6A () gene. There are some differences in phenotype between gene variants. This current case report describes a 1-month-old male infant that had a nonsense mutation in the gene.

A novel UBE2A splice site variant causing intellectual disability type Nascimento.

X-linked intellectual disability type Nascimento (XLID) is a rare disease caused by variants in the ubiquitin-conjugating enzyme E2A gene (UBE2A). Patients with XLID have similar phenotypes, including speech impairments, severe intellectual disability, hearing loss, wide facies, synophrys, generalized hirsutism, and urogenital abnormalities. Till date, only two splice-site variants of the UBE2A gene have been observed in patients with X-linked ID type Nascimento.

Bohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby: A case report.

Rationale: Bohring-Opitz syndrome is a severe congenital disorder associated with a de novo mutation in the additional sex combs-like 1 (ASXL1) gene, and it is characterized by symptoms that include developmental delay and musculoskeletal and neurological features.

Patient Concerns: The patient was a girl, an in vitro fertilization (IVF) baby, with delayed motor development, drooling, short stature, slow growth, low muscle tone, image diagnosis of hypoplasia of the corpus callosum, delayed tooth eruption, high palatal arch, adduction of the thumb, drooling, not chewing, excessive joint activity, and ligament relaxation.

Diagnosis: Whole-exome sequencing analysis detected 1 novel disruptive frameshift mutation in ASXL1 in the proband but wild-type ASXL1 in both parents.

Clinical Characteristics of Pediatric Cases of COVID-19 in Hunan, China: A Retrospective, Multi-Center Case Series.

Aimed to investigate the epidemiological characteristics, clinical features, treatment, and short-term prognosis of COVID-19 in children. Retrospective analysis was conducted in 48 children with COVID-19 admitted to 12 hospitals in eight cities in Hunan province, China, from January 26, 2020 to June 30, 2020. Of the 48 cases, Familial clusters were confirmed for 46 children (96%).

The Use of CRISPR/Cas9 as a Tool to Study Human Infectious Viruses.

Clustered regularly interspaced short palindromic repeats (CRISPR) systems are a set of versatile gene-editing toolkit that perform diverse revolutionary functions in various fields of application such as agricultural practices, food industry, biotechnology, biomedicine, and clinical research. Specially, as a novel antiviral method of choice, CRISPR/Cas9 system has been extensively and effectively exploited to fight against human infectious viruses. Infectious diseases including human immunodeficiency virus (HIV), hepatitis B virus (HBV), human papillomavirus (HPV), and other viruses are still global threats with persistent potential to probably cause pandemics.

[A multicenter survey of antibiotic use in very and extremely low birth weight infants in Hunan Province].

Objective: To investigate the current status of antibiotic use for very and extremely low birth weight (VLBW/ELBW) infants in neonatal intensive care units (NICUs) of Hunan Province.

Methods: The use of antibiotics was investigated in multiple level 3 NICUs of Hunan Province for VLBW and ELBW infants born between January, 2017 and December, 2017.

Results: The clinical data of 1 442 VLBW/ELBW infants were collected from 24 NICUs in 2017.

[Effect of magnesium-free on glucocorticoid receptor expression in primary cultured cortical neurons of fetal rats in vitro].

Objective: To study the changes of glucocorticoid receptor (GR) expression in embryonic rat cortical neurons exposed to transient Mg(2+)-free treatment.

Methods: Six days after rat cortical neuronal cultures, two groups were created based on the medium to which were transiently exposed. The control group was exposed to a physiological solution (PS), and the Mg(2+)-free group was exposed to the same medium as the control group except for the removal of magnesium.

[Effects of neonatal recurrent seizures on glucocorticoid receptor expression in the rat brain].

Objective: To investigate the effets of flurothyl-induced neonatal recurrent seizures on glucocorticoid receptor (GR) expression in the rat brain.

Methods: Forty-eight seven-day-old Sprague-Dawley rats were randomly divided into two groups: control and seizure. Seizures were induced by inhalant flurothyl daily for six consecutive days.

[Short-term effects of recurrent neonatal seizures on gamma-aminobutyric acid A receptor alpha1 and beta2 subunit expression in the rat brain].

Objective: To investigate the short-term effects of flurothyl-induced neonatal recurrent seizures on gamma-aminobutyric acid A receptor (GABAAR) alpha1 and beta2 subunit expression in the rat brain, and to study the relationship between the alterations of GABAAR subunits in the developing brain and seizure-induced brain injury.

Methods: Sixty-four 7-day-old Sprague-Dawley rats were randomly divided into two groups: control and seizure. Seizures were induced by inhalant flurothyl daily for six consecutive days.