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risk of other allergic diseases.
We correlated children's age with the positive rate and gradual increase in types of AC allergens. see more Concomitant allergic diseases of children with AC at different ages conform to the natural course of allergic diseases. In clinic, improving the diagnostic efficiency of AC in children, and early interventional treatment will positively contribute to their prognosis, and reduce the risk of other allergic diseases.
To investigate the value of interleukin-6 (IL-6) for neonates within 6 hours after birth in the prompt diagnosis of early-onset neonatal sepsis (EONS).
The clinical and laboratory data of 129 neonates in the neonatal intensive care unit (NICU) of our center from March 31, 2017, to February 29, 2020, were retrospectively analyzed. These patients were divided into two groups on their disease conditions the EONS group (n=66) and the healthy control group (n=63). All enrolled patients were born in our hospital's Obstetrics Department and were admitted to the NICU within 2 hours after birth. The first session of the blood test was conducted within 4-6 hours after birth for the measurements of IL-6, C-reactive protein (CRP1), serum amyloid A1 (SAA1), and serum immunoglobulin M (IgM). The second session of the blood test was performed 12-24 hours after birth for procalcitonin (PCT), CRP2, and SAA2. All the tests were completed in our clinical laboratory. The non-parametric test (Mann-Whitney U test) was used to d independent diagnostic biomarker for EONS, and its sensitivity and specificity are inferior to the conventional inflammation markers, including CRP, PCT, and SAA.
IL-6 is a quick and independent diagnostic biomarker for EONS, and its sensitivity and specificity are inferior to the conventional inflammation markers, including CRP, PCT, and SAA.
Hereditary multiple exostoses (HME), a rare genetic pediatric disorder, has a peculiar pathogenic mechanism. The results of previous studies have shown that HME is associated with mutations of the
and
genes at a molecular genetics level. In our study, two families who received therapy in the Department of Orthopedics of Shanghai Children's Hospital between June, 2017 and November, 2018 were recruited, and a mutational analysis of the
genes was conducted to further elucidating the relationship between HME and
.
Venous blood samples were collected from individuals with HME and their families. Exon sequencing and RT-PCR were performed to comprehensively analyze 11 exons of the
gene.
The deletion of exon 7 and the 2397 G>T mutation in exon 7 caused deletion mutation and nonsense mutation only in the HME patients. The mutations in exon 7 were tested and verified by Sanger sequencing. RT-PCR showed that the mRNA expression of
was significantly decreased in the mutation samples compared with the normal samples, which exerted a great influence on the function of
.
This study identified new mutation sites for the pathogenesis of HME and further clarified the relationship between HME and
.
This study identified new mutation sites for the pathogenesis of HME and further clarified the relationship between HME and EXT1.
Bicuspid aortic valve (BAV) is a common congenital heart defect (0.5-2.0% in the adult), potentially an onset factor of aortic stenosis (AS). Increasing evidence demonstrates that genetic risk factors play a key role in the pathogenesis of BAV, but the genetic basis underlying this cardiac malformation remains poorly understood.
Whole exome sequencing (WES) was utilized to uncover genetic variants associated with BAV. Pathogenicity score and mode of inheritance through bioinformatics tools were undertook to identify the possible disease-causing mutation.
A heterozygous Ala58Val mutation in Myosin binding protein C (Mybpc3) was identified out of 2,840 variants in an 11-year-old female patient. The proband and her father were confirmed to be heterozygous carriers of 173 C>T hybridization, and her mother was homozygous negative of the mutation as confirmed through Sanger sequencing. Expression of mRNA in the proband and her father, who also carries the mutation, were almost half of proband's mother. Indicating Mybpc3 (p.Ala58Val) mutation affected its expression, and may play crucial roles for heritable BAV.
To our knowledge, this is the first time to report Mybpc3 heterozygous variant associated with heritable BAV. The relationship between the location of Mybpc3 mutation and BAV may provide a novel perspective of understanding this disorder.
To our knowledge, this is the first time to report Mybpc3 heterozygous variant associated with heritable BAV. The relationship between the location of Mybpc3 mutation and BAV may provide a novel perspective of understanding this disorder.
Parents in China are denied visitation of their newborns in neonatal intensive care unit (NICU), leading to a prolonged period of parent-infant separation. The family-integrated care (FICare) model, which supports the integration of parents into the NICU team, is gradually being introduced in China. Considering resistance to the implementation of FICare, this study aimed to assess the attitudes and concerns of neonatologists and nurses towards FICare in China.
Using a before and after study design, a qualitative analysis was conducted to determine the perceptions and attitudes of medical professionals towards FICare in China. A total of 34 neonatologists and 94 nurses from 5 tertiary NICUs in China were enrolled. A self-developed questionnaire was used. The study steps included reading session and then survey for the first time (survey 1), a FICare getting buy-in education session (4 hours), a group discussion session, and finally repeat the questionnaire (survey 2). The surveys were completed by trained lack of human resources, and potential increases in nosocomial infection.
The getting buy-in education program in introducing new paradigms of neonatal care may help on how to design and implement more effective educational tools for FICare.
The getting buy-in education program in introducing new paradigms of neonatal care may help on how to design and implement more effective educational tools for FICare.
