Background: Methylmalonic acidemia (MMA) incidence was evaluated based on newborn screening in Xuzhou from November 2015 to December 2017, and the clinical, biochemical and molecular characteristics of patients with MMA harboring MMACHC and MUT mutations were summarized.Methods: During the study, 236,368 newborns were screened for MMA by tandem mass spectrometry (MS/MS) in the Maternity and Child Health Care Hospital of Xuzhou. C3, C3/C2 and methionine, and tHcy if necessary, were measured during the first screening. Blood samples from the infants and/or their family members were used for DNA analysis. The entire coding regions of the MMACHC and MUT genes associated with MMA were sequenced by DNA MassARRAY and next-generation sequencing (NGS).Results: Eleven patients with MMACHC mutations and three with MUT mutations were identified among the 236,368 screened newborns; the estimated total incidence of MMA was 1:16,883. Among the MMA patients, two died of infection-triggered metabolic crisis approximately 3 months after birth. All the patients identified had two mutant alleles except for one individual with early-onset disease. The most common MMACHC mutation was c.609G > A. The laboratory levels of C3 and C3/C2 were elevated in MMA individuals compared to other infants. Importantly, we demonstrate that accelerated C2 degradation is related to air temperature and humidity.Conclusion: Our study reports the clinical characteristics of MMA and diagnosis through MS/MS and NGS. There was a higher incidence of MMA with homocysteinemia than of isolated MMA in Xuzhou. Insight from this study may help explain the high false-positive rate of MMA in summer.

Background: Primary carnitine deficiency (PCD) is attributed to a variation in the SLC22A5 (OCTN2) gene which encodes the key protein of the carnitine cycle, the OCTN2 carnitine transporter. PCD is typically identified in childhood by either hypoketotic hypoglycemia, or skeletal and cardiac myopathy. The aim of this study was to the clinical, biochemical, and molecular characteristics of PCD patients via newborn screening with tandem mass spectrometry (MS/MS). Methods: MS/MS was performed to screen newborns for inherited metabolic diseases. SLC22A5 gene mutations were detected in the individual and/or their family member by DNA mass array and next-generation sequencing (NGS). Results: Among the 236,368 newborns tested, ten exhibited PCD, and six others were diagnosed with low carnitine levels caused by their mothers, who had asymptomatic PCD. The incidence of PCD in the Xuzhou area is ~1:23,637. The mean initial free carnitine (C 0 ) concentration of patients was 6.41 ± 2.01 μmol/L, and the follow-up screening concentration was 5.80 ± 1.29 μmol/L. After treatment, the concentration increased to 22.8 ± 4.13 μmol/L. Conclusion: This study demonstrates the important clinical value of combining MS/MS and NGS for the diagnosis of PCD and provides new insight into the diagnosis of PCD and maternal patients with PCD using C 0 concentration and SLC22A5 mutations.

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Mutations in gap junction proteins encoding beta connexions are believed to be a major cause for congenital hearing loss. The purpose of this study was to do comparative analyses of frequencies of most prominent mutations responsible for congenital deafness. Using fluorescence PCR method, the entire coding region of GJB2 gene, GJB3 gene, and SLC26A4 was analyzed. Direct DNA sequencing was used to analyze mutations in these genes among unrelated 2,674 cases of newborns. Also, 12S rRNA mutation was also studied in these cases. In 2,674 cases of newborns from June 2013 to June 2014, found deafness mutation in 137 cases (5.12 % of carrier rate), carrying GJB2 mutations in 68 cases (2.54 % of carry rate), GJB3 mutations in 10 cases (0.37 % of carry rate), SLC26A4 mutations in 54 cases (2.02 % of carry rate), and mitochondrial 12S rRNA mutations in five cases (0.19 % of carry rate). The study concludes that GJB2 gene mutation is the most common and mitochondrial 12S rRNA mutations are the least common mutation for congenital hearing loss in Chinese newborns.

Background Frailty is an expression of vulnerability and decline of physical, mental, and social activities, more commonly found in older adults. It is also closely related to the occurrence and poor prognosis of coronary artery disease (CAD). Little investigation has been conducted on the prevalence and determinants of frailty in older adult patients with chronic coronary syndrome (CCS). Methods A cross-sectional study was conducted, simple random sampling was used in this study. 218 older adults (age ≥ 60 years) with CCS with an inpatient admission number ending in 6 were randomly selected who hospitalized in Department of Geriatric Cardiology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, China, between January and December 2018. For measurement and assessment, we used the 5-item FRAIL scale (fatigue, resistance, ambulation, illnesses, and loss of weight), demographic characteristics, Barthel Index(BI), Mini-Mental State Examination (MMSE), Geriatric Depression Scale (GDS-15), Mini Nutrition Assessment Shor-Form (MNA-SF), Morse Fall Scale (MFS), Caprini risk assessment, polypharmacy, and Numerical Rating Scale (NRS). Multivariate logistic regression analysis was used to confirme determinants. Results The FRAIL scale showed 30.3% of the subjects suffered from frailty. Determinants were aging (OR1.12; 95% CI 1.04 ~ 1.62), out-of-pocket (OR18.93; 95% CI 1.11 ~ 324.07), hearing dysfunction (OR9.43; 95% CI 1.61 ~ 55.21), MNA-SF score (OR0.71; CI 0.57 ~ 0.89), GDS-15 score (OR1.35; 95% CI 1.11 ~ 1.64), and Caprini score (OR1.34; 95% CI 1.06 ~ 1.70). Conclusions The FRAIL scale confirmed that the prevalence of frailty in patients with CCS was slightly lower than CAD. Aging, malnutrition, hearing dysfunction, depression, and VTE risk were significantly associated with frail for older adult patients with CCS. A comprehensive assessment of high-risk patients can help identify determinants for frailty progression. In the context of CCS, efforts to identify frailty are needed, as are interventions to limit or reverse frailty status in older CCS patients.