Amygdala and cognitive impairment in cerebral small vessel disease: structural, functional, and metabolic changes.

Cerebral small vessel disease (CSVD) is a prevalent vascular disorder that has been consistently associated with vascular cognitive impairment (VCI). The diagnosis of CSVD continues to rely on magnetic resonance imaging (MRI). Epidemiological data indicate that the characteristic MRI features of CSVD, including white matter hyperintensity (WMH) and lacunar infarction, are very common among individuals over 40 years of age in community studies.

Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome.

Background: Fragile X syndrome (FXS) arises from the FMR1 CGG expansion. Comprehensive genetic testing for FMR1 CGG expansions, AGG interruptions, and microdeletions is essential to provide genetic counseling for females carrying premutation alleles. However, conventional PCR-based FMR1 assays mainly focus on CGG repeats, and could detect AGG interruption only in males.

Association of maternal TSH and neonatal metabolism: A large prospective cohort study in China.

Aims: Neonatal metabolites are very important in neonatal disease screening, and maternal thyroid hormones play an important role in fetal and neonatal health. Our study aimed to explore the association of maternal thyroid hormones with neonatal metabolites and identify an important time windows.

Methods: Pregnant women were recruited in Jinan Maternity and Child Care Hospital and followed up until delivery.

FRZB is Regulated by the Transcription Factor EGR1 and Inhibits the Growth and Invasion of Triple-Negative Breast Cancer Cells by Regulating the JAK/STAT3 Pathway.

Background: To explore the expression of frizzled related protein (FRZB) in triple-negative breast cancer (TNBC) and role of FRZB in TNBC cell growth and invasion.

Methods: Breast cancer clinical data were downloaded from the Cancer Genome Atlas. FRZB and early growth response 1 (EGR1) mRNA levels in TNBC were measured by quantitative real-time polymerase chain reaction.

Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry.

Objective: Lysosomal storage disorders (LSDs) are becoming increasingly important in newborn screening, and tandem mass spectrometry (MS/MS) is widely used in newborn screening for LSDs through measurement of enzymatic activities in dried blood spots (DBSs). Overall, the determination of the cutoff value is important in such screening, and different laboratories have different methods of determining this value; most do not use a fixed cutoff value but rather calculate the corresponding batch cutoff value based on each batch of experimental data. In this study, we used MS/MS to screen for LSDs and sought to find an appropriate method to establish the cutoff value for LSD screening.

A Chinese Boy with Mowat-Wilson Syndrome Caused by a 10 bp Deletion in the Gene.

Purpose: Mowat-Wilson syndrome (MWS) is a rare complex malformation syndrome which is characterized by typical facial dysmorphism, moderate to severe intellectual disability, global developmental delay, and multiple congenital anomalies. Here, we summarize the clinical characteristics and gene mutation analysis of a Chinese boy with MWS.

Patients And Methods: The clinical features of the patient were monitored.

Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China.

Background: The mut methylmalonic acidemia (MMA) caused by the deficiency of methylmalonyl-CoA mutase (MCM) activity, which results from defects in the MUT gene. The aim of this study was to summarize the clinical and biochemical data, spectrum of mutations, treatment regime and follow-up of patients with mut MMA from Jan 2013 to Dec 2017 in Shandong province, China.

Methods: Twenty patients were diagnosed with isolated mut MMA by elevated C3, C3/C2, and urine methylmalonic acid levels without hyperhomocysteinemia.

Sensitivity and Specificity of Red Reflex Test in Newborn Eye Screening.

Objectives: To validate the sensitivity of an isolated red reflex test in detection of ocular abnormalities of the anterior and posterior segments in newborns.

Study Design: Red reflex test and comprehensive eye examinations including external inspection, pupil examination, hand-held slit lamp examination, and RetCam fundus imaging (Clarity Medical Systems, Pleasanton, California) were performed in 7641 newborns. All results were documented as negative or positive.

[Clinical efficacy of structured institution-based teaching programme combined with family rehabilitation training in treatment of childhood autism].

Objective: To investigate the clinical efficacy of a structured institution-based teaching programme combined with family rehabilitation training in the treatment of childhood autism.

Methods: One hundred children with autism were divided into a combination therapy group (n=50) and a control group (n=50). The children in the control group received a structured institution-based teaching programme, and the children in the combination therapy group received a family rehabilitation training besides the structured institution-based teaching programme.

[Study of newborn hearing and genetic screening in Jinan].

Objective: In this study, we employed newborn hearing screening and gene screening concurrently to explore the hearing loss associated with mutations in the city of Jinan.

Methods: A total of 3 288 newborns born between March 2013 and December 2013 in Jinan Maternity and Child Care Hospital received hearing concurrent genetic screening. Transiently evoked otoacoustic emissions (TEOAE) was used in rooming-in newborns, while TEOAE and auto auditory brainstem response (AABR) was used in infants in neonatal intensive care unit (NICU).

Epigenetic upregulation of corticotrophin-releasing hormone mediates postnatal maternal separation-induced memory deficiency.

Accumulating evidences demonstrated that early postnatal maternal separation induced remarkable social and memory defects in the adult rodents. Early-life stress induced long-lasting functional adaptation of neuroendocrine hypothalamic-pituitary-adrenal axis, including neuropeptide corticotrophin-releasing hormone (CRH) in the brain. In the present study, a significantly increased hippocampal CRH was observed in the adult rats with postnatal maternal separation, and blockade of CRHR1 signaling significantly attenuated the hippocampal synaptic dysfunction and memory defects in the modeled rats.

Development of tone-pip auditory brainstem responses and auditory steady-state responses in infants aged 0-6 months.

Conclusions: The longitudinal findings presented in this study suggest that with the maturational development, the conduction time of the auditory nerve decreases while the thresholds had no physiological changes within 0-6 months after birth. Comparing the tone-pip auditory brainstem response (ABR) with the auditory steady-state response (ASSR), the former had lower thresholds than the latter at 500-8000 Hz, which indicates that the estimation of tone-pip ABR maybe nearer to the actual hearing level of infants.

Objective: To evaluate the feasibility of tone-pip ABR and ASSR for newborns and infants, and to follow the development of the threshold estimates from tone-pip ABR and ASSR in normal infants through the first 6 months of life.

Impact of the national hearing screening programme in China.

China has a large population with different levels of medical care among the eastern, central and western areas. The national universal newborn hearing screening (UNHS) programme was initiated in 1999 and then progressively implemented nationwide. A "National UNHS Experts Group" was set up, formulating the national UNHS administration rules and technological specifications.

[A pilot study of ocular diseases screening for neonates in China].

Objective: To explore the clinical strategies for the screening of newborn eye diseases and obtain information concerning the incidence of newborn ocular diseases.

Methods: Newborns in a baby-friendly nursery were evaluated for mass screening of eye diseases 2 to 7 days after birth (including reaction to light stimulation, external ocular examination and test for pupil red reflex) and those with abnormalities were subjected to diagnostic examination (external ocular examination with a hand-held slit-lamp, pupil red reflex and mydriatic examination). Newborns in neonatal intensive care unit (NICU) were subjected to screening 5 to 14 days after birth and then, together with those with high risk factors, received a comprehensive examination for screening and diagnostic purposes.

[Simultaneous screening program for newborns hearing and ocular diseases].

Objective: To explore the model and the feasibility of newborn hearing and ocular disease simultaneous screening program and to study the birth prevalence of newborn hearing loss and newborn ocular diseases.

Methods: The universal newborn hearing screening (UNHS) was performed using transient otoacoustic emission (TEOAE) in well baby nursery and by a two-stage TEOAE and auto auditory brainstem response (AABR) protocol in neonatal intensive care unit (NICU). The UNHS was simultaneous done with newborn ocular disease screening program.

A case-control study on high-risk factors for newborn hearing loss in seven cities of Shandong province.

To investigate the high-risk factors for newborn hearing loss and to provide information for preventing the development of hearing loss and delaying its progression, from May 2003 to June 2006, neonates who failed to pass the universal newborn hearing screening (UNHS) were referred to Jinan Newborn Hearing Screening and Rehabilitation Center from 7 newborn hearing screening centers in seven cities of Shandong province. One-to-one pair-matched case-control method was employed for statistical analysis of the basic features of definitely identified cases. High-risk factors relating to the bilateral hearing loss were evaluated by univariate and multivariate Logistic regression analysis.

[Mutations of GJB2 gene in infants with non-syndromic hearing impairment].

Objective: To explore the relationship between GJB2 gene mutations and severe-to-profound bilateral non-syndromic hearing impairment (NSHI).

Methods: Peripheral blood was collected from 20 infants with severe-to-profound bilateral NSHI confirmed by otoacoustic emissions (OAE), auditory brainstem responses (ABR) and clinical physical examination, 11 male and 9 female, aged 3 months to 3 years. PCR and sequencing technique were used to analyze the coding region of GJB2 gene.

[Diagnosis and following-up and analysis of pathogenesis for congenital hearing loss].

Objective: To investigate the incidence and the relevant high-risk factors of congenital hearing loss for infants from well-baby nursery and newborn intensive care unit. To explore the scientific and feasible mode of early diagnosis, following-up and early intervention.

Methods: Two-stage universal newborn hearing screening ( UNHS ) were performed by using transient otoacoustic emission ( TEOAE ).

GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China.

Mutations in GJB2 account for the majority of recessive forms of prelingual hearing loss. However, in most previous studies it was not possible to distinguish between congenital (present at birth) and non-congenital prelingual hearing loss. In the present study, the frequency of GJB2 alleles in 20 newborns with bilateral severe-to-profound non-syndromic hearing impairment (NSHI) who were found at birth through newborn hearing screening and clinical examination is reported.

[The exploratory study of auto-auditory brainstem response in the high-risk infants on hearing screening].

Objective: To compare the pass rate of auto-auditory brainstem response (AABR) in infants complicated with different high-risk factors.

Methods: 245 infants (488 ears) with different high-risk factors, including premature, low-weight, hyperbilirubinemia, asphyxiation and pulmonary diseases, were tested by transiently evoked otoacoustic emission (TEOAE) and AABR at the same time.

Results: The pass rate of AABR and that of TEOAE were different for the infants with different high-risk factors.

[Flash visual evoked potentials on newborns and infants].

Objective: To explore the feasibility of applying flash visual evoked potentials (FVEPs) for visual function test newborns and infants and bring out the consultable laboratory values of FVEPs. The technology of FVEP could be used as diagnostic tests for those who failed the screening and the infants who were cared for in the NICU.

Methods: 41 normal neonates ( View Article and Find Full Text PDF

[A study on the risk indicators of newborn hearing loss].

Objective: To explore the risk indicators of newborn hearing loss.

Methods: Statistic description was used to analyze the basic characteristics of 41 hearing loss infants screened from 8,262 newborns; one way analysis was used by 1:2 matched case control study to analyze the risk indicators of newborns with hearing loss; chi-square test and multivariate condition Logistic stepwise regression mode were also used to find risk the indicators.

Results: By one way analysis, there were 3 high risk indicators associated with newborn hearing loss: family history of hearing loss, craniofacial anomalies, and NICU care history.