Objective To investigate the value of flexi-rigid thoracoscopy in pleural effusion of unknown causes and the correlation with CEA, TK1 and ADA. Methods The clinical data and results of CEA, TK1 and ADA of 25 patients were retrospective analyzed in our department from 2015 January to November 2015. These patients accepted the examination of flexi-rigid thoracoscopy with pleural effusion of unknown causes. Results In the 25 patients with pleural effusion of unknown causes, definite diagnosis was made in 22 cases (88.00 %), of which 9 cases were malignant pleural effusion (36.00 %), 11 cases were tuberculous pleural effusion (44.00 %), 2 cases were inflammatory pleural effusion (8.00 %), 3 cases were undetermined (12.00 %). The positive rate of TK1 and CEA in malignant group was significantly higher than that in the tuberculosis group and inflammatory group, the positive rate of ADA in the tuberculosis group was significantly higher than that in the malignant group and inflammatory group. Conclusion Flexi-rigid medical thoracoscopy examination is an effective and safe method for diagnosis of unexplained pleural effusion with high exact diagnosis rate, less trauma and less complication. Combination with CEA, TK1 and ADA are helpful to improve diagnostic rate of pleural effusion of unknown causes.

BACKGROUND: Iliac crest bone graft (ICBG) harvesting is associated with significant perioperative pain and opioid consumption. This randomized controlled trial sought to determine if the transversalis fascia plane (TFP) block provides effective analgesia for anterior ICBG harvesting. METHODS: Fifty patients undergoing wrist fusion surgery with anterior ICBG harvesting were randomized to receive a TFP block with either 20 ml of 0.5% ropivacaine or 5% dextrose. Patients additionally received a brachial plexus block for primary surgical-site anesthesia and either a general or spinal anesthetic depending on patient preference. Primary outcomes of interest were perioperative opioid consumption (measured as intravenous morphine equivalents [IME]), pain intensity at the ICBG harvest site for up to 48 h postoperatively, and the incidence of persistent postoperative pain at 6 and 12 months after surgery. RESULTS: The TFP group used less opioid in the post-anesthetic care unit (PACU) (median 0 vs. 2.5 mg IME, P = 0.01) and in the first 8 h following PACU discharge (median 2.5 vs. 13.0 mg IME, P = 0.02). The patients who received a TFP block also had lower pain scores in PACU (median 0 vs. 4.0 out of 10, P < 0.001). Although opioid consumption and pain scores were lower in the TFP group at later timepoints, this difference was not statistically significant. Persistent pain at the ICBG site was reported in only 4.3% and 6.5% of all patients at 6 and 12 months, respectively. CONCLUSIONS: The TFP block provides effective early analgesia for anterior ICBG harvesting. The incidence of persistent postoperative pain was low.
Analgesia ; Anesthesia ; Anesthesia, Local ; Brachial Plexus Block ; Fascia ; Glucose ; Humans ; Incidence ; Morphine ; Nerve Block ; Pain, Postoperative ; Patient Preference ; Transplants ; Wrist

BACKGROUND: Iliac crest bone graft (ICBG) harvesting is associated with significant perioperative pain and opioid consumption. This randomized controlled trial sought to determine if the transversalis fascia plane (TFP) block provides effective analgesia for anterior ICBG harvesting. METHODS: Fifty patients undergoing wrist fusion surgery with anterior ICBG harvesting were randomized to receive a TFP block with either 20 ml of 0.5% ropivacaine or 5% dextrose. Patients additionally received a brachial plexus block for primary surgical-site anesthesia and either a general or spinal anesthetic depending on patient preference. Primary outcomes of interest were perioperative opioid consumption (measured as intravenous morphine equivalents [IME]), pain intensity at the ICBG harvest site for up to 48 h postoperatively, and the incidence of persistent postoperative pain at 6 and 12 months after surgery. RESULTS: The TFP group used less opioid in the post-anesthetic care unit (PACU) (median 0 vs. 2.5 mg IME, P = 0.01) and in the first 8 h following PACU discharge (median 2.5 vs. 13.0 mg IME, P = 0.02). The patients who received a TFP block also had lower pain scores in PACU (median 0 vs. 4.0 out of 10, P < 0.001). Although opioid consumption and pain scores were lower in the TFP group at later timepoints, this difference was not statistically significant. Persistent pain at the ICBG site was reported in only 4.3% and 6.5% of all patients at 6 and 12 months, respectively. CONCLUSIONS The TFP block provides effective early analgesia for anterior ICBG harvesting. The incidence of persistent postoperative pain was low.

OBJECTIVETo explore the molecular etiology for a Chinese family affected with isolated methylmalonic acidemia (MMA).

METHODSPotential mutations of MUT, MMAA and MMAB genes in the proband were screened by PCR and Sanger sequencing. The pathogenicity of identified mutations was analyzed using Polyphen2, SIFT, HSF, DNAMAN 6.0 and Swiss-PdbViewer4.1.0 software.

RESULTSTwo novel mutations of the MUT gene, including c.581C>T (p.P194L) and c.1219A>T (p.N407Y), were discovered in the proband, which were inherited respectively from his mother and father. Bioinformatics analysis suggested that both mutations were damaging. The affected codons P194 and N407, both located in the (beta, alpha) 8 barrel domain and to which the substrate methylmalonyl-CoA is bound, are highly conserved across various species. Both mutations can disrupt the space conformation of its protein product, affecting the function of the MCM protein.

CONCLUSIONThe novel mutations of MUT gene probably underlie the isolated MMA in this family.

Adult ; Amino Acid Metabolism, Inborn Errors ; enzymology ; genetics ; Amino Acid Sequence ; Animals ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Female ; Humans ; Infant ; Male ; Methylmalonyl-CoA Mutase ; genetics ; Molecular Sequence Data ; Mutation ; Mutation, Missense ; Pedigree ; Point Mutation ; Sequence Alignment

OBJECTIVETo explore the molecular mechanism for a boy suspected with 3-methylcrotonyl-CoA carboxylase deficiency by neonatal screening.

METHODSPCR and Sanger sequencing were used to identify potential mutations of MCCC1 and MCCC2 genes. SIFT and Polyphen-2 software was used to predict the effect of variant on the protein function and conservation of the variant across various species. Human Splicing Finder and Swiss-PdbViewer4.1.0 were applied to analyze the possible mechanism of the variant.

RESULTSFor the proband, a compound heterozygous mutation was discovered in the MCCC1 gene, namely c.539G>T (p.G180V) and c.704_711del (p.A235Vfs*4), which were inherited from his father and mother, respectively. The two mutations have disrupted the protein conformation, which in turn may impact the function of MCC protein.

CONCLUSIONThe compound heterozygous mutations of the MCCC1 gene may contribute to the 3-methylcrotonyl-CoA carboxylase deficiency manifested by the patient.

Amino Acid Sequence ; Base Sequence ; Carbon-Carbon Ligases ; chemistry ; deficiency ; genetics ; DNA Mutational Analysis ; Heterozygote ; Humans ; Infant, Newborn ; Male ; Models, Molecular ; Mutation ; Neonatal Screening ; methods ; Protein Conformation ; Sequence Homology, Amino Acid ; Urea Cycle Disorders, Inborn ; diagnosis ; genetics

OBJECTIVETo explore the value of single nucleotide polymorphism array (SNP-array) for the analysis of pediatric patients with growth retardation.

METHODSOne hundred eighty one children with growth retardation were enrolled. DNA was extracted from peripheral samples from the patients, and whole genome copy number variations (CNVs) were detected using Illumina Human Cyto SNP-12. All identified CNVs were further analyzed with reference to databases including ClinGen, ClinVar, DECIPHER, OMIM and DGV as well as comprehensive review of literature from PubMed to determine their pathogenicity.

RESULTSForty seven patients (26%) with abnormal CNVs were detected, which included 12 known microdeletions/microduplications syndrome (26%), 10 pathogenic non-syndromic CNVs (21%), 3 numerical chromosome aberrations (6%), 3 unbalanced translocations (6%), 4 pathogenic mosaicisms (9%) and 15 cases with unknown clinical significance (32%). After excluding obvious numerical and/or structural chromosomal abnormalities, this study has detected 15 pathogenic microdeletions/microduplications sized 5 Mb or less, which may be missed by routine chromosomal karyotyping. In addition, there were 3 cases with loss of heterozygoisty (LOH) containing known or predicted imprinting genes as well as 2 cases with suspected parental consanguinity.

CONCLUSIONSNP-array technology is a powerful tool for the genetic diagnosis of children with growth disorders with advantages of high resolution and improved accuracy.

Adolescent ; Child ; Child, Preschool ; Chromosome Aberrations ; DNA Copy Number Variations ; Developmental Disabilities ; diagnosis ; genetics ; Female ; Humans ; Infant ; Karyotyping ; Male ; Oligonucleotide Array Sequence Analysis ; methods ; Polymorphism, Single Nucleotide

OBJECTIVETo identify the genetic mutation in ASS1 gene in a Chinese family with citrullinemia typeI, which may provide a basis for the diagnosis and genetic counseling.

METHODGenomic DNA was isolated from peripheral blood samples of the family members. Mutation analysis of ASS1 gene was carried out by PCR and Sanger sequencing. Biostructural analysis of the mutated ASS1 was completed by Phyre server.

RESULTDouble heterozygous mutations in the proband were identified: c.951delT (F317LfsX375) and c.1087C>T (R363W), which were confirmed in the proband's father and mother, respectively. It was found that the c.951delT mutation might change the formation of a dimer or a tetramer and the function of ASS1 protein.

CONCLUSIONDouble heterozygous mutations for c.951delT and c.1087C>T have been found in a proband with citrullinemia typeI. The c.951delT is a novel mutation in citrullinemia typeI, which may change the configuration of ASS1 protein and result in ASS1 dysfunction.

Argininosuccinate Synthase ; genetics ; Asian Continental Ancestry Group ; genetics ; Citrullinemia ; genetics ; DNA Mutational Analysis ; Humans ; Infant, Newborn ; Mutation

Objective:To investigate the diagnostic accuracy of serological indicators and evaluate the diagnostic value of a new established combined serological model on identifying the minimal hepatic encephalopathy (MHE) in patients with compensated cirrhosis.Methods:This prospective multicenter study enrolled 263 compensated cirrhotic patients from 23 hospitals in 15 provinces, autonomous regions and municipalities of China between October 2021 and August 2022. Clinical data and laboratory test results were collected, and the model for end-stage liver disease (MELD) score was calculated. Ammonia level was corrected to the upper limit of normal (AMM-ULN) by the baseline blood ammonia measurements/upper limit of the normal reference value. MHE was diagnosed by combined abnormal number connection test-A and abnormal digit symbol test as suggested by Guidelines on the management of hepatic encephalopathy in cirrhosis. The patients were randomly divided (7∶3) into training set ( n=185) and validation set ( n=78) based on caret package of R language. Logistic regression was used to establish a combined model of MHE diagnosis. The diagnostic performance was evaluated by the area under the curve (AUC) of receiver operating characteristic curve, Hosmer-Lemeshow test and calibration curve. The internal verification was carried out by the Bootstrap method ( n=200). AUC comparisons were achieved using the Delong test. Results:In the training set, prevalence of MHE was 37.8% (70/185). There were statistically significant differences in AMM-ULN, albumin, platelet, alkaline phosphatase, international normalized ratio, MELD score and education between non-MHE group and MHE group (all P<0.05). Multivariate Logistic regression analysis showed that AMM-ULN [odds ratio ( OR)=1.78, 95% confidence interval ( CI) 1.05-3.14, P=0.038] and MELD score ( OR=1.11, 95% CI 1.04-1.20, P=0.002) were independent risk factors for MHE, and the AUC for predicting MHE were 0.663, 0.625, respectively. Compared with the use of blood AMM-ULN and MELD score alone, the AUC of the combined model of AMM-ULN, MELD score and education exhibited better predictive performance in determining the presence of MHE was 0.755, the specificity and sensitivity was 85.2% and 55.7%, respectively. Hosmer-Lemeshow test and calibration curve showed that the model had good calibration ( P=0.733). The AUC for internal validation of the combined model for diagnosing MHE was 0.752. In the validation set, the AUC of the combined model for diagnosing MHE was 0.794, and Hosmer-Lemeshow test showed good calibration ( P=0.841). Conclusion:Use of the combined model including AMM-ULN, MELD score and education could improve the predictive efficiency of MHE among patients with compensated cirrhosis.