A boy, aged 16 months, attended the hospital due to head and facial erythema for 15 months and vulva erythema for 10 months with aggravation for 5 days. The boy developed perioral and periocular erythema in the neonatal period and had erythema and papules with desquamation and erosion in the neck, armpit, and trigone of vulva in infancy. Blood gas analysis showed metabolic acidosis; the analysis of amino acid and acylcarnitine profiles for inherited metabolic diseases and the analysis of organic acid in urine suggested multiple carboxylase deficiency; genetic testing showed a homozygous mutation of c.1522C>T(p.R508W) in the HLCS gene. Finally the boy was diagnosed with holocarboxylase synthetase deficiency and achieved a good clinical outcome after oral biotin treatment. This article analyzes the clinical data of a child with holocarboxylase synthetase deficiency and summarizes the etiology, diagnosis, and treatment of this child, so as to provide ideas for clinicians to diagnose this rare disease.
Humans ; Male ; Biotin/therapeutic use* ; Holocarboxylase Synthetase Deficiency/drug therapy* ; Homozygote ; Mutation ; Rare Diseases/drug therapy* ; Infant

Primary immunodeficiency diseases (PID) is a congenital disease caused by single gene germline mutation related to the immune system. PID patients have immune dysregulation, and are susceptible to infectious diseases, autoimmune diseases, autoimmune diseases, allergic diseases, and malignant tumors. The first symptom of some PID patients is atopic disease, therefore they go to the department of allergy, department of pediatrics and other relevant departments. How to identify and diagnose PID in allergic patients, to reduce diagnosis delay and prevent disease aggravation are the abilities that allergists, pediatricians, and doctors in other relevant departments need to master. This article summarizes the warning signs of PID in allergic patients and the mechanism of allergy combined with PID, and then summarizes the common types of PID in allergic patients, the evaluation, treatment and prevention in patients with PID and allergy.
Autoimmune Diseases ; Child ; Humans ; Hypersensitivity/therapy* ; Immunologic Deficiency Syndromes/therapy* ; Primary Immunodeficiency Diseases/therapy*

OBJECTIVE: To analyze the metabolic profile and genetic variants for newborns with primary carnitine deficiency (PCD) from Guangxi, China. METHODS: From January 2014 to December 2019, 400 575 newborns from the jurisdiction of Guangxi Zhuang Autonomous Region Newborn Screening Center were subjected to tandem mass spectrometry (MS/MS) analysis. Newborns with positive results for PCD and their mothers were recalled for retesting. Those who were still positive were subjected to sequencing of the SLC22A5 gene. RESULTS: Twenty-two newborns and 9 mothers were diagnosed with PCD, which gave a prevalence rate of 1/18 208. Sequencing of 18 newborns and 4 mothers have identified 14 types of SLC22A5 gene variants, with the common ones including c.51C>G (10/44, 22.7%), c.1195C>T (9/44, 20.5%) and c.1400C>G (7/44, 15.9%), The c.517delC(p.L173Cfs*3) and c.1031C>T(p.T344I) were unreported previously and predicted to be pathogenic (PVS1+PM2_supporting+PM3+PP4) and likely pathogenic (PM1+PM2_supporting+PM3+PP3+PP4) based on the American College of Medical Genetics and Genomics standards and guidelines. CONCLUSION c.51C>G, c.1195C>T and c.1400C>G are the most common variants underlying PCD in Guangxi.
Cardiomyopathies ; Carnitine/deficiency* ; China ; Humans ; Hyperammonemia ; Infant, Newborn ; Metabolome ; Muscular Diseases ; Mutation ; Solute Carrier Family 22 Member 5/genetics* ; Tandem Mass Spectrometry

Ornithine transcarbamylase deficiency(OTCD)is a most common ornithine cycle (urea cycle) disorder. It is a X-link inherited disorder caused by
Humans ; Hyperammonemia/etiology* ; Liver Transplantation ; Nervous System Diseases/prevention & control* ; Ornithine Carbamoyltransferase Deficiency Disease/therapy*

OBJECTIVE: To investigate the effect of Chinese medicine Wubi Shanyao pills on sexual function of kidney-yang-deficiency mice induced by hydrocortisone. METHODS: Male Kunming mice were injected with hydrocortisone for 10 days to prepare the kidney-yang-deficiency model, and administrated with Wubi Shanyao pills (0.91, 1.82, 2.73 g/kg) for 9 weeks. The general behaviors of mice (autonomous activity, grasping power) were observed; sexual behaviors (capture, straddle, ejaculation frequency and incubation period) of mice were detected by mating experiment. The serum levels of cortisol, adrenocorticotropic hormone (ACTH), luteinizing hormone (LH), follicle stimulating hormone (FSH), estradiol (E RESULTS: Wubi Shanyao pills increased the number of independent activities, grasping power, capture frequency of model mice and shortened the capture latency (all CONCLUSIONS Wubi Shanyao pills can improve the sexual function of mice with kidney-yang-deficiency induced by hydrocortisone, which may be related to regulating the hypothalamus-pituitary-adrenal axis (HPA axis), promoting the proliferation of testicular cells, and inhibiting cell apoptosis.
Animals ; Follicle Stimulating Hormone/blood* ; Hydrocortisone ; Hypothalamo-Hypophyseal System ; Kidney/drug effects* ; Kidney Diseases/drug therapy* ; Male ; Mice ; Pituitary-Adrenal System/drug effects* ; Random Allocation ; Sexual Behavior, Animal/drug effects* ; Yang Deficiency/drug therapy*

To investigate the clinical characteristics and the rule of administration of Ciwujia Injection in patients with cardiovascular disease by correlation analysis and frequency analysis. The information of 5 904 patients who used Ciwujia Injection to treat cardiovascular disease for at least three times in the hospital information system(HIS) of 19 comprehensive tertiary hospitals nationwide. The frequency analysis method was used to analyze the higher frequency variables, and the algorithm of Apriori correlation analysis method was used to analyze the clinical characteristics and medication laws of Ciwujia Injection in treating patients with cardiovascular disease. Among the 5 904 patients, the median age of the patients was 70 years, and the number of patients between 65-75 years old was up to 2 096(35.5%). There were more women than men in terms of diagnosis and treatment, and the women at age of 45-65 and 65-75 years old were more than men. The top three diagnoses by Western medicine were coronary heart disease in 8 104 cases(65.66%), dyslipidemia in 2 515 cases(20.38%), and cardiac function grade Ⅱ-Ⅲ in 581 cases(4.71%), while the largest number of syndromes in traditional Chinese medicine(TCM) at discharge was 1 109(21.37%) in other type, followed by 739 cases(14.24%) of Qi deficiency and blood stasis syndrome, and 698(13.46%) of liver and kidney Yin deficiency syndrome. The most frequently used Western medicine in combined use was Nifedipine in 2 567 cases(7.21%), and most frequently used TCM was Compound Xianzhuli Liquid leachate in 766 cases(3.53%). From the results of pharmacological analysis, the frequency of using Ciwujia Injection + stasi-seliminating agent + calcium channel blocking drugs was highest when using 1 Chinese medicine combined with 1 or 2 Western medicines. In the use of 2 Chinese medicines combined with 1 Western medicine, Ciwujia Injection + heat-clearing agent + stasis-eliminating agent + calcium channel blocker was the most common. This study demonstrated that Ciwujia Injection was more common in middle-aged and elderly patients and more in women than men. Treatment should be based on different cardiovascular disease treatment guidelines to reduce complications caused by underlying diseases, and attention should be paid to the prevention and treatment of cardio-vascular disease risk factors such as hypertension, diabetes and abnormal lipid metabolism. According to the analysis of frequency distribution and association rules, it was concluded that Ciwujia Injection was mainly used in combination with calcium channel blockers and stasis-eliminating agents in the treatment of cardiovascular disease. In the treatment of cardiovascular diseases by Ciwujia Injection in combination with other Chinese and Western medicines, in order to avoid pharmacological changes and avoid affecting the efficacy of the drug, it is necessary to closely observe whether adverse reactions occur and ensure that the medication is safe and effective. This study provides a good reference for the follow-up clinical guidance of Ciwujia Injection.
Aged ; Cardiovascular Diseases ; Drugs, Chinese Herbal ; Eleutherococcus ; Female ; Humans ; Male ; Medicine, Chinese Traditional ; Middle Aged ; Yin Deficiency

OBJECTIVES: Primary carnitine deficiency (PCD) is a rare fatty acid metabolism disorder that can cause neonatal death. This study aims to analyze carnitine levels and detect SLC22A5 gene in newborns with carnitine deficiency, to provide a basis for early diagnosis of PCD, and to explore the relationship between carnitine in blood and SLC22A5 genotype. METHODS: A total of 40 neonates with low free carnitine (C0<10 μmol/L) in blood were the subjects of the study. SLC22A5 gene was detected by Sanger sequencing to analyze the value of carnitine, the results of gene test and their relationship. RESULTS: A total of 15 variants of SLC22A5 gene were detected, including 11 pathogenic or likely pathogenic variants and 4 variants of uncertain significance. There were 5 new mutations: c.288delG (p.G96fsX33), c.744_745insTCG (p.M258_L259insS), c.752A>G (p.Y251C), c.495 C>A (p.R165E), and c.1298T>C (p.M433T). We found 14 PCD patients including 2 homozygous mutations and 12 heterozygous mutations, 14 with 1 mutation, and 12 with no mutation among 40 children. The C0 concentration of children with SLC22A5 gene homozygous or complex heterozygous mutations was (4.95±1.62) μmol/L in the initial screening, and (3.90±1.33) μmol/L in the second screening. The C0 concentration of children with no mutation was (7.04±2.05) μmol/L in the initial screening, and (8.02±2.87) μmol/L in the second screening. There were significant differences between children with homozygous or compound heterozygous mutations and with no mutation in C0 concentration of the initial and the second screening (both CONCLUSIONS There are 5 new mutations which enriched the mutation spectrum of SLC22A5 gene. C0<5 μmol/L is highly correlated with SLC22A5 gene homozygous or compound heterozygous mutations. Children with truncated mutation may have lower C0 concentration than that with untruncated mutation in the initial screening.
Cardiomyopathies ; Carnitine/deficiency* ; Child ; Humans ; Hyperammonemia/genetics* ; Infant, Newborn ; Muscular Diseases/genetics* ; Mutation ; Solute Carrier Family 22 Member 5/genetics*

PURPOSE: This review describes the historical changes in nutrition philosophy from a reductionist to a holistic approach during the 20th century. Also, the role and efficient use of a holistic approach to precision nutrition are discussed. RESULTS: Over the past century, significant progress has been made in human nutrition research, unraveling fundamental mechanisms of single nutrients on single targets or pathways. This kind of a reductionist approach has helped to save populations from nutrient deficiency diseases and improve associated health outcomes in large parts of the world. However, a new set of nutrition problems, like obesity and diet-related chronic diseases, are growing each year worldwide, increasing the financial burden on the health care system. A linear cause-effect association between single nutrients and a single physiologic effect, is insufficient to solve the complex nutrition-health relationships. Research that involves a more holistic rather than reductionist approach is needed to tackle a new set of nutrition problems. Recent advances in technology, informatics, and statistical methods are enabling an understanding of the diversity of individuals and the complex interactions between foods and human bodies, leading to the concept of “precision nutrition.” CONCLUSION: The emerging goal of precision nutrition is to provide tailored dietary advice for maintaining health and preventing obesity and diet-related chronic diseases. The parts are already being installed. To grab the complexity, reductionism and holism must be used interdependently.
Chronic Disease ; Deficiency Diseases ; Delivery of Health Care ; Human Body ; Humans ; Informatics ; Obesity ; Philosophy

Posterior reversible encephalopathy syndrome (PRES) is a newly described adverse effect possibly associated with gonadotropin-releasing hormone (GnRH) agonist therapy. We report a case of PRES after 2 doses of depot GnRH agonists in a 44-year-old woman with a huge myoma uteri and iron-deficiency anemia. Brain magnetic resonance imaging showed high signal lesions in both occipital lobes on fluid-attenuated inversion-recovery (FLAIR) images, compatible with PRES. After treatment with anticonvulsant, she recovered both radiographically and clinically. The association between PRES and GnRH agonist use is still enigmatic, and thus should be further clarified.
Adult ; Anemia, Iron-Deficiency ; Brain ; Brain Diseases ; Female ; Gonadotropin-Releasing Hormone* ; Humans ; Leuprolide ; Magnetic Resonance Imaging ; Myoma ; Occipital Lobe ; Posterior Leukoencephalopathy Syndrome* ; Uterus

OBJECTIVE: To carry out mutation analysis and prenatal diagnosis for a family affected with primary carnitine deficiency. METHODS: Genomic DNA of the proband was extracted from peripheral blood sample 10 days after birth. The 10 exons and intron/exon boundaries of the SLC22A5 gene were subjected to PCR amplification and Sanger sequencing. The proband's mother was pregnant again two years after his birth. Fetal DNA was extracted from amniocytes and subjected to PCR and Sanger sequencing. RESULTS: Tandem mass spectrometric analysis of the proband revealed low level of plasma-free carnitine whilst organic acids in urine was normal. Compound heterozygous SLC22A5 mutations c.1195C>T (inherited from his father) and c.517delC (inherited from his mother) were detected in the proband. Prenatal diagnosis has detected no mutation in the fetus. The plasma-free carnitine was normal after birth. CONCLUSION Appropriate genetic testing and prenatal diagnosis can prevent further child with carnitine deficiency. The identification of c.517delC, a novel mutation, enriched the spectrum of SLC22A5 mutations.
Cardiomyopathies ; genetics ; Carnitine ; deficiency ; genetics ; Child, Preschool ; DNA Mutational Analysis ; Female ; Humans ; Hyperammonemia ; genetics ; Muscular Diseases ; genetics ; Mutation ; Pregnancy ; Prenatal Diagnosis ; Solute Carrier Family 22 Member 5 ; genetics