scholarly journals Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients

2021 ◽  
Vol 9 ◽  
Author(s):  
Ping Wang ◽  
Jianbo Shu ◽  
Chunyu Gu ◽  
Xiaoli Yu ◽  
Jie Zheng ◽  
...  
Keyword(s):  
Organic Acid ◽  
Chinese Population ◽  
Clinical Course ◽  
Clinical Phenotype ◽  
Methylmalonic Aciduria ◽  
Multidimensional Analysis ◽  
Chinese Patients ◽  
Quantitative Detection ◽  
Benign Condition ◽  
Urine Organic Acid

Introduction: Combined malonic and methylmalonic aciduria (CMAMMA) is a rare metabolic disease caused by biallelic variants in ACSF3 gene. The clinical phenotype is highly heterogeneous in this disorder, ranging from asymptomatic to severe symptoms. No cases with CMAMMA were reported in China.Materials and Methods: In this study, three Chinese pediatric patients were diagnosed with CMAMMA unexpectedly while being treated for other ailments. To better characterize CMAMMA in a Chinese population, we made a multidimensional analysis with detailed clinical phenotype, semi-quantitative detection of urine organic acid, and analysis of ACSF3 gene variants.Results: The clinical presentation of these patients is quite different; their main complaints were anemia, jaundice, or abnormal urine test, respectively. They showed no symptoms of the classic methylmalonic academia, but urine organic acid analysis showed elevated malonic acid and methylmalonic acid in all the patients repeatedly. Variants were found at four sites in ACSF3 gene. Patient 1 carried the compound heterogeneous variant c.689G> A (p.Trp230*)/c.1456G> A (p.Ala486Thr). A compound heterozygous variant c.473C> T (p.Pro158Leu)/c.1456G> A (p.Ala486Thr) was identified in patient 2. Patient 3 harbored a novel homozygous variant c.1447A> G (p.Lys483Glu).Conclusions: Three Chinese patients were diagnosed with CMAMMA caused by ACSF3 variants. Their clinical course revealed that CMAMMA can be a benign condition that does not affect individual growth and development, but severe clinical phenotype may appear when other triggers exist. This study systematically elaborates CMAMMA in a Chinese population for the first time, broadens the spectrum of gene variant, and provides a strong basis for the etiological study of this disorder.

scholarly journals The association between serum selenium concentration and prognosis in patients with heart failure in a Chinese population

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Zhiliang Zhang ◽  
Chao Chang ◽  
Yuxin Zhang ◽  
Zhiyong Chai ◽  
Jinbei Li ◽  
...  
Keyword(s):  
Heart Failure ◽  
Chinese Population ◽  
Selenium Concentration ◽  
Chinese Patients ◽  
Serum Selenium ◽  
Increased Risk ◽  
Patients With Heart Failure ◽  
All Cause Mortality ◽  
Serum Selenium Concentration ◽  
Baseline Information

AbstractWhether Selenium (Se) deficiency relates with adverse prognosis in Chinese patients with heart failure (HF) is still unknown. This study aimed to investigate the association of serum Se level and the outcomes of patients with HF in a Chinese population. Patients with HF and serum Se examination were retrospectively included. Baseline information were collected at patient’s first admission. The primary and secondary outcomes were all-cause mortality and rehospitalization for HF during follow-up, respectively. The study participants were divided into quartiles according to their serum Se concentrations. The Cox proportional hazard models were adopted to estimate the association of serum Se levels with observed outcomes. A total of 411 patients with HF with a mean age of 62.5 years were included. The mean serum level of Se was 68.3 ± 27.7 µg/L. There was nonsignificant difference of baseline characterizes between the four quartile groups. In comparison with patients in the highest quartile, those with the lowest quartile (17.40–44.35 µg/L) were associated with increased risk of all-cause mortality [adjusted hazard ratios (95% CI) 2.32 (1.43–3.77); Ptrend = 0.001]. Our study suggested that a lower serum Se level was significantly associated with increased risk of all-cause mortality in patients with HF.

Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area

2021 ◽  
Author(s):  
Tsz-Ki Ling ◽  
Ka-Chung Wong ◽  
Candace Yim Chan ◽  
Nike Kwai-Cheung Lau ◽  
Chun-yiu Law ◽  
...  
Keyword(s):  
Amino Acid ◽  
Organic Acid ◽  
Acid Decarboxylase ◽  
Amino Acid Decarboxylase ◽  
High Prevalence ◽  
Urine Organic Acid

scholarly journals Impact of cesarean section on transient tachypnea of the newborn: a longitudinal study

2021 ◽  
Vol 8 (3) ◽  
pp. 467
Author(s):  
Keziah Joseph ◽  
Bhargavi B. ◽  
C. S. Jain ◽  
Dasaradha Rami Reddy
Keyword(s):  
Caesarean Section ◽  
Respiratory Distress ◽  
Neonatal Intensive Care ◽  
Clinical Course ◽  
Mode Of Delivery ◽  
Normal Vaginal Delivery ◽  
Medical Sciences ◽  
Benign Condition ◽  
Term Neonates ◽  
Early Onset Sepsis

Background: Transient tachypnea of the new born is a benign condition. The aim of the study is to find any correlation between the mode of delivery and occurrence of transient tachypnea of newborn.Methods: Study is proposed to assess the risk factor like caesarean section and its relationship with occurrence of TTN in term neonates and the clinical course of TTN cases admitted in Neonatal intensive care unit (NICU), Department of Pediatrics, Kamineni Institute of Medical Sciences, Narketpally, Nalgonda, Telangana.Results: During the study period, total number of deliveries in our hospital was 4576. Of 356 term neonates with respiratory distress admitted in NICU, the most common cause was found to be early onset sepsis i.e 168 of 356 cases accounting for 47.19%, followed by transient tachypnea of newborn i.e., 68 of 356 cases accounting for 19.10%.Conclusions: The mode of delivery i.e caesarean section has a significant impact on transient tachypnea of newborn (TTN) with a relative risk of 3.78 compared to normal vaginal delivery. The majority of cases had mild respiratory distress and were relieved of symptoms within 3 days of hospital stay.

scholarly journals Evaluation of Lumbar Stiffness after Long-Level Fusion  for Degenerative Lumbar Scoliosis in Chinese population

2020 ◽  
Author(s):  
Xinling Zhang ◽  
Lei Yuan ◽  
Yan Zeng ◽  
Zhongqiang Chen ◽  
Weishi Li ◽  
...  
Keyword(s):  
Internal Consistency ◽  
Chinese Population ◽  
Chinese Patients ◽  
Personal Hygiene ◽  
Degenerative Lumbar Scoliosis ◽  
Lumbar Scoliosis ◽  
Patient Reported ◽  
Elderly Chinese ◽  
The Impact ◽  
Level Fusion

Abstract Study Design: a retrospective study.Summary of Background Data: Long-level spinal instrumented fusion for DLS by intention eliminated spinal motion in an attempt to alleviate pain, improve deformity, and reduce disability. However, this surgery considerably impaired performance of activities of daily living (ADL) due to the resulting stiffness. The lumbar stiffness disability index (LSDI) was a validated measure of the effect of lumbar stiffness on functional activity, however, which might not be fully applicable to elderly Chinese population because of their several special lifestyles.Objective: To evaluate the lumbar stiffness in patients with degenerative lumbar scoliosis (DLS) after long-level fusion by Chinese-LSDI (C-LSDI).Methods: 129 DLS patients underwent long-level (≧4 levels) fusion surgery with at least one-year follow-up were included. The C-LSDI was designed by modifying LSDI and Korean-LSDI (K-LSDI) considering elderly Chinese lifestyles, and the patient-reported outcome questionnaire measuring the impact of lumbar stiffness on functional abilities in elderly Chinese with DLS was assessed for internal consistency and retest repeatability.Results: All patients showed increased lumbar stiffness with significantly improvement in pain and deformity postoperatively, and for items of performing personal hygiene after toileting and getting out of a car, people performed more inconvenient with increasing fixed levels. Compared with LSDI and K-LSDI, the C-LSDI demonstrated high internal consistency (Cronbach’s alpha=0.902) and retest reliability (ICC=0.904) in the elderly Chinese population. Conclusion: This study demonstrated that the C-LSDI questionnaire was a reliable and valid instrument for assessing functional limitations due to lumbar stiffness among elderly Chinese patients with DLS after long-level fusion. Although the effects of stiffness did trend toward greater impacts among patients underwent longer fusions, most patients were satisfied with trade-offs of function and pain relief in exchange for perceived increases in lumbar stiffness.

scholarly journals Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Hao Liu ◽  
Jing-kun Miao ◽  
Chao-wen Yu ◽  
Ke-xing Wan ◽  
Juan Zhang ◽  
...  
Keyword(s):  
Organic Acid ◽  
Severe Case ◽  
Good Prognosis ◽  
Blood Purification ◽  
Acute Episode ◽  
Compound Heterozygous Mutation ◽  
Special Treatment ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Urine Organic Acid

Abstract Background Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHS) deficiency is an autosomal recessive inborn error of metabolism, which will give rise to failure of ketogenesis in liver during illness or fasting. It is a very rare disease with only a few patients reported worldwide, most of which had a good prognosis after proper therapies. Case presentation We report a 9-month-old boy with mHS deficiency presenting with unusually severe and persistent acidosis after diarrhea and reduced oral food intake. The metabolic acidosis persisted even after supplementation with sugar and alkaline solution. Blood purification and assisted respiration alleviated symptoms, but a second onset induced by respiratory infection several days later led to multiple organ failure and death. Urine organic acid analysis during the acute episode revealed a complex pattern of ketogenic dicarboxylic and 3-hydroxydicarboxylic aciduria with prominent elevation of glutaric acid and adipic acid, which seem to be specific to mHS deficiency. Plasma acylcarnitine analysis revealed elevated 3-hydroxybutyrylcarnitine and acetylcarnitine. This is the first report of elevated 3-hydroxybutyrylcarnitine in mHS deficiency. Whole exome sequencing revealed a novel compound heterozygous mutation in HMGCS2 (c.100C > T and c.1465delA). Conclusion This severe case suggests the need for patients with mHS deficiency to avoid recurrent illness because it can induce severe metabolic crisis, possibly leading to death. Such patients may also require special treatment, such as blood purification. Urine organic acid profile during the acute episode may give a hint to the disease.

scholarly journals The Haplotype of the TGFβ1 Gene Associated with Cerebral Infarction in Chinese

2012 ◽  
Vol 39 (5) ◽  
pp. 626-631 ◽  
Author(s):  
Hong-miao Tao ◽  
Guo-zhong Chen ◽  
Gan-ping Cheng ◽  
Xiao-yun Shan
Keyword(s):  
Cerebral Infarction ◽  
Chinese Population ◽  
Transforming Growth Factor ◽  
Additive Model ◽  
Chinese Patients ◽  
Amplification Refractory Mutation System ◽  
Strong Linkage Disequilibrium ◽  
Nucleotide Polymorphisms ◽  
Individual Snps ◽  
Increased Risk

Background:Transforming growth factor beta1 (TGFβ1) is a multifunctional cytokine involved in inflammation and pathogenesis of atherosclerosis. The aim of the present study was to investigate the relationship between human TGFβ1 gene +869T>C (rs1800470), -509C>T (rs1800469) single nucleotide polymorphisms (SNPs) and haplotypes and cerebral infarction (CI) in a Chinese population.Methods:The genetic association study was performed in 450 Chinese patients (306 male and 144 female) with CI and 450 control subjects (326 male and 124 female). TGFβ1 gene +869T>C and -509C>T polymorphisms were identified with amplification refractory mutation system polymerase chain reaction and DNA sequencing method.Results:The individual SNPs analysis showed the +869T and -509C in an additive model (+869T vs +869C; -509 C vs T), +869TT genotype in a recessive model (TT vs TC+CC) and 509CC genotype in a dominant model (CC+ CT vs TT) were identified to be related to CI (P<0.05). +869T>C and -509C>T SNPs were in strong linkage disequilibrium (d'=0.87, R2=0.75). Haplotype analysis showed that +869C/-509T haplotype was associated with a significant decreased risk of CI (OR= 0.86, 95%CI, 0.70-0.92; P=0.007). Furthermore,+869T/-509C haplotype was associated with a significant increased risk of CI (OR=1.31, 95%CI, 1.10-2.03; P=0.019).Conclusions:The results of this study indicate that polymorphisms and the haplotypes in the TGFβ1 gene might be genetic markers for CI in the Chinese population.

scholarly journals Detection of inborn error of metabolisms by urine organic acid GC-MS in Southern China

2013 ◽  
Vol 2013 (S1) ◽  
Author(s):  
MinYan Jiang ◽  
Li Liu ◽  
HuiFen Mei ◽  
XiuZhen Li ◽  
Jing Cheng ◽  
...  
Keyword(s):  
Organic Acid ◽  
Inborn Error ◽  
Southern China ◽  
Urine Organic Acid

scholarly journals Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Bing Han ◽  
Tong Cheng ◽  
Hui Zhu ◽  
Jie Yu ◽  
Wen-jiao Zhu ◽  
...  
Keyword(s):  
Chinese Population ◽  
Autosomal Recessive Disorder ◽  
Ambiguous Genitalia ◽  
Chinese Patients ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Reductase Deficiency ◽  
Significant Difference ◽  
Hotspot Mutations

Background. A deficiency in steroid 5α-reductase type 2 is an autosomal recessive disorder. Affected individuals manifested ambiguous genitalia, which is caused by decreased dihydrotestosterone (DHT) synthesis in the fetus. Methods. We analyzed 25 patients with 5α-reductase deficiency in China. Seventeen of the 25 patients (68%) were initially raised as females. Sixteen patients changed their social gender from female to male after puberty. Results. Eighteen mutations were identified in these patients. p.Gly203Ser and p.Gln6∗ were found to be the most prevalent mutations. On the basis of the genotype of these patients, we divided them into different groups. There was no significant difference in hormone levels and external masculinization score (EMS) in patients with or without these prevalent mutations. Twelve common single-nucleotide polymorphisms (SNPs) near the p.Gln6∗ mutation were chosen for haplotype analysis. Three haplotypes were observed in 6 patients who had the p.Gln6∗ mutation (12 alleles). Conclusion. We analyzed mutations of the SRD5A2 gene in Chinese patients with 5α-reductase deficiency. Although hotspot mutations exist, no founder effect of prevalent mutations in the SRD5A2 gene was detected in the Chinese population.

scholarly journals Clinical Characteristics and Long-Term Outcome of Headaches Associated With Moyamoya Disease in the Chinese Population—A Cohort Study

2020 ◽  
Vol 11 ◽  
Author(s):  
Bin Gao ◽  
Kaijiang Kang ◽  
Jia Zhang ◽  
Dong Zhang ◽  
Xingquan Zhao
Keyword(s):  
Conservative Treatment ◽  
Moyamoya Disease ◽  
Chinese Population ◽  
Chinese Patients ◽  
Surgical Revascularization ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Long Term Follow Up

Background: Headache associated with Moyamoya disease (HAMD) in the Chinese population is not well-described. The long-term outcome of surgical revascularization and natural course of HAMD has not been disclosed either.Methods: A headache screening questionnaire in China based on the ICHD2 and a face-to-face interview performed by an experienced neurologist were used to investigate headache characteristics and frequency and pain intensity in the 3 months before admission, and a telephone interview was used for the follow-up of a large cohort of 119 Chinese patients with HAMD.Results: Headache intensity was rated as scores of 5.9 ± 2.0 on a visual analog scale (VAS), ranging from 0 to 10, in the 3 months before admission. Forty-six patients (38.6%) were categorized as having migraine-like headaches, 29 patients (24.3%) were categorized as having tension type-like headaches, and 44 patients (36.9%) had a combination of both. The majority of patients had migraine-like headaches (n = 34, 73.9%) with a migrainous aura. Both the frequency and intensity of the headache improved significantly in patients treated with surgical revascularization (n = 96, 80.7%) or the conservative treatment (n = 23, 19.3%) in a long-term follow-up.Conclusion: HAMD frequently presented with a migraine-like headache (75.5% in total). A tension type headache was present in 60.9% of patients. The symptom of dizziness is common in patients with HAMD (60.5%), and 19 of them (26.4%) met the diagnose of vestibular migraine. Both intensity and frequency of HAMD show a trend of spontaneous remission in a long-term follow-up, and there is no difference in long-term outcomes of HAMD between surgical revascularization and conservative treatment, which indicates that the effect of bypass intervention on HAMD may be a placebo effect.

Sign in / Sign up

Export Citation Format

Share Document