This article reports a patient with extensive high-pressure injection injury of the hand combined with deep chemical burn caused by high-pressure injection of industrial cement materials was diagnosed and treated in the Department of Hand Surgery, Xiaolan Hospital Affiliated to Southern Medical University in 2022. The nerves, tendons and blood vessels of the left hand were involved, and the ulnar skin of the left thumb was extensively necrosis, and a large number of extensive cement foreign bodies remained under the skin. Part of the cement was inserted into the joint capsule of the interphalangeal joint. After emergency surgical treatment, the patient was saved successfully, and the wound healed well without chemical poisoning and other related complications, which created conditions for the second stage of flap repair.

Objective:To analyze regional differences in MMACHC gene variations among patients with cblC-type methylmalonic acidemia (MMA) in China and to explore the relationship between these variations and neonatal screening, biochemical markers and prognosis.Methods:Retrospective case summary. Clinical and laboratory data, including general condition, biochemical markers and genetic analysis, were collected from 1 859 cblC MMA patients from 2005 to 2023. Patients were divided into 7 groups according to their regions: north China, northeast China, east China, central China, south China, southwest China and northwest China. They were also classified into neonatal screening and non-neonatal screening groups. Mann-Whitney U and Kruskal-Wallis tests were used to compare biochemical marker levels. In contrast, the Chi-square test was applied to compare MMACHC gene variant frequencies, neonatal screening proportion, onset age and prognosis between groups. Results:Among 1 859 cases of cblC MMA, 1 019 were male and 840 were female, with a consultation age of 1.0 (0.1, 5.0) month. A total of 1 787 cases carried compound heterozygous or homozygous variants and only 1 variant site was identified in 72 cases. The 10 most frequent variants were c.609G>A (1 238 cases), c.658_660delAAG (343 cases), c.80A>G (284 cases), c.482G>A (239 cases), c.567dupT (191 cases), c.656_658delAGA (131 cases), c.217C>T (109 cases), c.394C>T (105 cases), c.445_446delTG (51 cases) and c.1A>G (50 cases). The frequency of the c.609G>A was the lowest in northwest China (28.8% (44/154), χ2=-18.42, P<0.05). The frequency of the c.567dupT was the most common in southwest China (25.0% (20/80), χ2=71.70, P<0.001) and c.656_658delAGA had the highest frequency in northeast China (9.3% (19/205), χ2=32.08, P<0.001). Non-missense variants (91.2% (62/68), 88.5% (46/52)) and early-onset patients (90.0% (36/40), 94.4% (34/36)) were both more prevalent in southwest and south China ( χ2=14.95, 31.69, both P<0.05). The proportion of neonatal screening was the lowest in south China (22.2% (8/36), χ2=98.48, P<0.05), where the mortality rate was the highest (19.1% (4/21), χ2=38.98, P<0.001). East China exhibited the highest frequency of missense variants (21.5% (339/1 579)), the highest proportion of patients identified through neonatal screening (54.5% (465/853)), and a more significant proportion of patients with good prognosis (36.6% (227/621), χ2=14.57, 93.49, 38.98, all P<0.05). In addition, the c.482G>A variant was more frequent in patients diagnosed by neonatal screening compared to those diagnosed by other methods (8.3% (132/1 586) vs. 5.9% (122/2 060), χ2=7.97, P<0.05). Conclusions:The frequency of MMACHC gene variation varies across different regions. The c.609G>A was least frequent in northwest China, c.567dupT was most common in southwest China, and c.656_658delAGA was most prevalent in northeast China. South China had the lowest neonatal screening rate and the highest mortality. At the same time, east China exhibited the highest frequency of missense variants, the highest proportion of patients identified through neonatal screening and the best prognosis. The c.482G>A variant was more frequent in patients diagnosed by neonatal screening compared to those diagnosed by other methods.

This article reports a patient with extensive high-pressure injection injury of the hand combined with deep chemical burn caused by high-pressure injection of industrial cement materials was diagnosed and treated in the Department of Hand Surgery, Xiaolan Hospital Affiliated to Southern Medical University in 2022. The nerves, tendons and blood vessels of the left hand were involved, and the ulnar skin of the left thumb was extensively necrosis, and a large number of extensive cement foreign bodies remained under the skin. Part of the cement was inserted into the joint capsule of the interphalangeal joint. After emergency surgical treatment, the patient was saved successfully, and the wound healed well without chemical poisoning and other related complications, which created conditions for the second stage of flap repair.

OBJECTIVE: To explore the disease spectrum for abnormal 3-hydroxyisovalerylcarnitine (C5OH) metabolism identified through newborn screening and clinical diagnosis patients and the key points for differential diagnosis so as to raise the awareness of pediatricians for such diseases. METHODS: Clinical data of 85 neonates with abnormal C5OH metabolism identified from February 2004 to January 2022 at Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were collected. Their clinical manifestations and results of tandem mass spectrometry (MS/MS), gas chromatography mass spectrometry (GC-MS) and genetic testing were retrospectively analyzed. RESULTS: Among the 85 cases, 46 (54.1%) were identified by neonate screening, whilst 39 (45.9%) were clinically diagnosed patients. Five diseases were diagnosed, including 28 cases with multiple carboxylase deficiency (MCD, 32.9%), 29 cases with 3-methylcrotonyl-coenzymeAcarboxylasedeficiency (MCCD, 34.1%), 4 cases with 3-methylglutaconic acid (3-MGA, 4.7%), 7 cases with 3-hydroxy-3-methylglutaric acid (3-HMG, 8.2%), and 17 cases with beta-ketothiolase deficiency (BKD, 20.0%). The disorders were characterized by sudden onset, anorexia, vomiting, diarrhea, abnormal breathing, consciousness disorder, spasm and developmental delay. CONCLUSION Among newborns with abnormal C5OH metabolism, MCCD is the most common disorder, which was followed by BKD and MCD. For patients with abnormal C5OH metabolism, MCD is the most common, followed by BKD and 3-HMG. C5OH related diseases have great heterogeneity. Combination of blood acylcarnitine levels, urinary organic acid levels and genetic testing based on clinical characteristics can help to attain the diagnosis.
Humans ; Infant, Newborn ; China ; Neonatal Screening ; Retrospective Studies ; Tandem Mass Spectrometry/methods*

Abstract OBJECTIVE To quickly qualitatively analyze the chemical components in Sanzi powder compound prescription by HPLC-Q-Exactive-MS/MS. METHODS SHIMADZU GIST C18 column(4.6 mm×150 mm, 5 μm) was used, using 0.1% formic acid water-methanol as mobile phase with gradient elution, the flow rate was 0.5 mL·min-1, the column temperature was 30 ℃. Under positive and negative ion modes, the primary and secondary mass spectrometry information of Sanzi powder was scanned. Qualitative attribution of each component in Sanzi powder was carried out based on the mass spectrometry information, molecular formula, and retention time of molecular ion peaks and fragment ions analyzed using total ion flow diagrams, combined with the molecular formula and structural formula searched in the Chemspider database and references. RESULTS Based on the analysis of the mass spectrometry cleavage rules and references of various components, 95 possible chemical components were preliminarily inferred, including 39 phenolic acids, 20 tannins, 9 organic acid esters, 5 monoterpenoids, 12 iridoids, 8 triterpenes and 2 flavonoids. Among them, 57 components were from Chebulae Fructus, 30 were from Gardeniae Fructus, 10 were from Toosendan Fructus, and among these compounds, rutin from Chebulae Fructus, Gardeniae Fructus and Toosendan Fructus. CONCLUSION The HPLC-Q-Exactive-MS/MS detection method has good separation and high sensitivity, and can quickly and efficiently infer various components in Sanzi powder. It establishes a fast and efficient analytical method for identifying the chemical components in Sanzi powder.

Acute liver failure (ALF) in children has complex etiologies, among which inherited metabolic diseases account for a high proportion, especially in infants and young children. Inherited metabolic diseases are a group of congenital diseases with destruction of cell physiological function caused by metabolism-related gene mutations, with various types and diverse clinical manifestations. ALF is one of the serious complications caused by such diseases and is easily neglected due to a lack of specific manifestations. ALF caused by such etiologies should be identified as early as possible to reverse the progression of ALF and improve the prognosis of patients. This article summarizes the common inherited metabolic diseases that can cause ALF in children, in order to improve the awareness of such etiology among physicians.

Objective:To investigate the gastrointestinal characteristics of children with glycogen storage disease (GSD) type Ⅰ.Methods:From June to December 2020, clinical data of children aged 0-18 years with GSD type Ⅰ diagnosed by genetic testing from all provinces and cities in China, including Beijing, Shanghai, Guangdong, Guangxi, Hunan, Sichuan, Yunnan, Guizhou, Henan, Hebei, Zhejiang, Jiangsu, Shaanxi, Anhui and Heilongjiang, were collected.A cross-sectional questionnaire survey was used for data analysis.Results:A total of 52 questionnaires were obtained, and 43 eligible patients aged 1-18 years were recruited, involving 30 males (69.8%) and 13 females (30.2%). Among them, 9 patients were GSD type Ⅰa and 34 patients were type Ⅰb.Seven patients (16.3%) had siblings who were also diagnosed as GSD type Ⅰb.The gastrointestinal manifestations included recurrent diarrhea in 26 patients (60.5%), perianal lesions (erythema, ulcer, abscess) in 25 patients (58.1%), abdominal pain/distension in 24 patients (55.8%), nausea/vomiting in 22 patients (51.1%), mucus/bloody stool in 14 patients (32.6%). Thirty-three patients (76.7%) had recurrent stomatitis and oral ulcer, and 38 patients (88.0%) had at least two gastrointestinal symptoms.White blood cell (WBC) count was <4.0×10 9/L in 24 patients (55.8%), and absolute neutrophils count was <1.5×10 9/L in 19 patients (44.2%), which was <0.5×10 9/L in 10 patients (23.3%). WBC count and absolute neutrophils count both decreased in children with GSD type Ⅰb.Platelets were >300×10 9/L in 30 patients (69.8%). Eighteen patients with GSD type Ⅰb underwent gastroscopy and colonoscopy, and 16 patients were diagnosed with GSD-related inflammatory bowel disease.Thirty-nine patients (90.7%) were fed with raw corn starch, 3 patients (6.9%) with maltodextrin and 19 patients (44.2%) with special enteral formula.Twenty patients with type Ⅰb GSD needed repeated antibiotic treatment due to neutropenia and neutrophil dysfunction.Fifteen patients were treated with granulocyte colony-stimulating factor (G-CSF). Among them, 11 patients were diagnosed as GSD-related bowel disease. Conclusions:Children with GSD type Ⅰ commonly have gastrointestinal symptoms, especially those with GSD type Ⅰb.The incidence of GSD-related inflammatory bowel disease is high in those children.G-CSF treatment cannot prevent the development of GSD-associated inflammatory bowel disease and its pathogenesis needs further research.Diet therapy is the first-line treatment of GSD type Ⅰ.Multidisciplinary management is helpful to reduce the complications and improve the quality of life in children with GSD type Ⅰ.

Objective:To investigate the treatment and prognosis of children with propionic acidemia (PA).Methods:This study involved 82 children with PA treated in the Department of Pediatric Endocrinol-ogy and Genetic Metabolism, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine from December 2002 to June 2020. Clinical data, including manifestations, laboratory test results, treatment strategy, and follow-up data, were summarized and analyzed using t-test or Mann-Whitney U test. Results:(1) Among the 82 cases consisting of 50 (61.0%) boys and 32 (39.0%) girls, 59 (72.0%) were diagnosed after clinical onset; 22 (26.8%) were diagnosed by newborn screening, including eight asymptomatic ones; the other one (1.2%) was asymptomatic but confirmed after the diagnosis of PA in the patient's sibling. The average age at first onset was 4.5 months (2 d-5 years) in 73 subjects, of which 28 (38.4%) were early-onset PA (within three months after birth). (2) Cranial MRI was performed on 26 cases, and abnormality was identified in 19 (73.1%) cases. (3) Hyperlactatemia was found in 16 cases among 30(53.3%) who underwent relevant examination with the average lactic acid level of 3.5 (2.1-4.3) μmol/L, while 35 out of 40 patients (87.5%) had hyperammonemia with an average blood ammonia level of 105.4 (34-907) μmol/L. (4) Among the 28 early-onset PA cases, 16 (57.1%) died, and 12 (42.9%) survived. There was no significant difference in the serum propionylcarnitine level, propionylcarnitine to acetylcarnitine ratio, urine 3-hydroxypropionic acid, or methylcitrate level between the survival and death cases. (5) Genetic mutations were detected in 75 patients (91.5%), among which 26 (34.7%) carried PCCA gene mutations and 48 (64%) with PCCB gene mutations. One patient (1.3%) harbored one known pathogenic mutation in each of the PCCA and PCCB genes. All mutations were inherited from the parents. (6) Followed up to June 2020, 57 (69.5%) patients survived, and 25 (30.5%) died from multiple organ failure secondary to severe acidosis, including 16 early-onset and nine late-onset cases. Conclusions:The primary treatment of PA is dietary control. Most PA patients are diagnosed after clinical onset, but symptoms may recur and even have developmental retardation despite treatment. Some of those diagnosed through newborn screening are asymptomatic after treatment. Newborn screening using tandem mass spectrometry is recommended for early diagnosis and treatment of PA.

【Objective】 To investigate the genotype of anti-HCV reactive blood donors by one ELISA assay and provide scientific basis for the reentry of anti-HCV false positive blood donors. 【Methods】 The data of 453 blood donors reactive to antibody to HCV(anti-HCV) with one ELISA assay(third generation) were extracted via the blood donor information system of Shaoguan Central Blood Station from January 1, 2014 to December 31, 2018. The subjects were recalled to the station for the serological retest, using a 4th generation ELISA reagent, and PCR qualitative test. The PCR reactive samples were sent to the genetic testing laboratory for HCV genotyping, in order to guide diagnosis and treatment in the future. Meanwhile, those PCR negative blood donors returned to be eligible again based on the Guidelines for the Return of Reactive Blood Donors for Blood Screening. 【Results】 70.2% (318/453) of the previous anti-HCV-reactive blood donors, using a third-generation ELISA assay responded to the HCV genotyping, of which 83.0%(264/318) were negative, and 17%(54/318) positive. The profile of HCV subtypes in positive donors was HCV2a>1b>3a=6a. A little bit high false positive rate was presented by the third, and former, generation reagent than the four generation(0.41% vs 0.06%), which was confirmed by HCV RNA qualitative and HCV genotyping tests.After two rounds of reentry testing, 98 eligible blood donors returned to the blood donor team, with the return rate at 21.63% (98 / 453). 【Conclusion】 NAT or (and) HCV genotyping for anti-HCV reactive blood donors screened out by the third, and former, generation, should be carried out to permanently shield the true positive donors and reenter the negative ones.

Objective To explore the clinical feature,genetic variant and clinical outcome of patients with cblA-type methylmalonic acidemia (MMA).Methods Clinical manifestations,therapeutic schedule and prognosis of 12 patients with cblA-type MMA were analyzed.MMAA gene variants were analyzed for all patients and their parents.Results Vomiting,dyspnea and drowsiness were the major clinical features of cblA-type MMA.Eleven patients were vitamin B12-responsive.After treatment,the blood level of propionylcarnitine,ratio of propionylcarnitine/acetylcarnitine,urine level of methylmalonic acid and methylcitric acid have decreased significantly (P＜0.05).Follow-up study showed that 8 patients (66.7％)had normal development,while the rest (33.3％) remained to have various level of mental or movement delay.Fourteen MMAA gene variants were detected,with c.365T＞C (p.L122P) being the most common (29.2％).Six novel variants,including c.54delA (p.A19Hfs * 43),c.275G＞A (p.G92V),c.456delT (p.G153Vfs* 8),c.667dupA (p.T223Nfs* 4),c.1114C＞T (p.Q372X) and c.1137_1138delCA (p.F379Lfs * 27) were found.Conclusion The main clinical manifestations of patients with cblA-type of MMA include vomiting,dyspnea and drowsiness.Most patients are vitamin B12-responsive.c.365T＞C is a potential hot spot variant of MMAA gene in China.