Biopsy, Needle ; Bone Marrow ; pathology ; Bone Marrow Examination ; Female ; Humans ; Infant, Newborn ; Male ; Sternum ; pathology

The three‐dimensional digital substraction angiography (3D‐DSA) significantly elevated detection rate of intracranial small vessel aneurysms in recent years .It has become the novel gold standard diagnosing antracranial small vessel aneurysms .The present article made a review on 3D‐DSA value for diagnosis ,treatment and prognostic assessment of intracranial small vessel aneurysms .

This study aimed to identify the type of carnitine palmitoyltransferase 2 (CPT2) gene mutation in the child with carnitine palmitoyltransferase II (CPT II) deficiency and her parents and to provide the genetic counseling and prenatal diagnosis for the family members. As the proband, a 3-month-old female baby was admitted to the hospital due to fever which had lasted for 8 hours. Tandem mass spectrometric analysis for blood showed an elevated plasma level of acylcarnitine, which suggested CPT II deficiency. The genomic DNA was extracted from peripheral blood of the patient and her parents. Five exon coding regions and some intron regions at the exon/intron boundaries of the CPT2 gene were analyzed by PCR and Sanger sequencing. Amniotic fluid was taken from the mother during the second trimester, and DNA was extracted to analyze the type of CPT2 gene mutation. Sanger sequencing results showed that two mutations were identified in the CPT2 gene of the proband: c.886C>T (p.R296X) and c.1148T>A (p.F383Y), which were inherited from the parents; the second child of the mother inherited the mutation of c.886C>T (p.R296X) and showed normal acylcarnitine spectrum and normal development after birth. It is concluded that the analysis of CPT2 gene mutations in the family suggested that the proband died of CPT II deficiency and that the identification of the mutations was helpful in prenatal diagnosis in the second pregnancy.
Carnitine O-Palmitoyltransferase ; deficiency ; genetics ; Female ; Humans ; Infant ; Metabolism, Inborn Errors ; diagnosis ; genetics ; Mutation ; Prenatal Diagnosis

A 9-day-old male patient was admitted to the hospital because of cough, anhelation, feeding difficulty and lethargy. The diagnostic examinations indicated pulmonary infection, severe metabolic acidosis, hyperglycemia, hyperammonemia and pancytopenia in the patient. Blood and urine screening and isovaleryl-CoA dehydrogenase (IVD) gene detection for inherited metabolic diseases were performed to clarify the etiology. Tandem mass spectrometric screening for blood showed an elevated isovalerylcarnitine (C5) level. The organic acid analysis of urine by gas chromatography-mass spectrometry showed significantly increased levels in isovaleryl glycine and 3-hydroxyisovaleric acid. Homozygous mutations (c.1208A>G, p.Tyr403Cys) in the IVD gene were identified in the patient. His parents were heterozygous carriers. After the treatment with low-leucine diets and L-carnitine for 3 days, the patient showed a significant improvement in symptoms, but he died one week later. It is concluded that the neonates with pneumonia and metabolic decompensation of unknown etiology should be screened for genetic metabolic disease.
Amino Acid Metabolism, Inborn Errors ; diagnosis ; genetics ; Humans ; Infant, Newborn ; Isovaleryl-CoA Dehydrogenase ; deficiency ; genetics ; Male ; Mutation ; Pancytopenia ; etiology

X-linked ichthyosis (XLI) is a metabolic disease with steroid sulfatase deficiency and often occurs at birth or shortly after birth. The encoding gene of steroid sulfatase, STS, is located on the short arm of the X chromosome, and STS deletion or mutation can lead to the development of this disease. This study collected the data on the clinical phenotype from a family, and the proband, a boy aged 11 years with full-term vaginal delivery, had dry and rough skin and black-brown scaly patches, mainly in the abdomen and extensor aspect of extremities. Peripheral blood samples were collected from each family member and DNA was extracted. Multiplex ligation-dependent probe amplification (MLPA) was used to measure the copy number of STS on the X chromosome. Whole-genome microarray was used to determine the size of the segment with microdeletion in the X chromosome. MLPA was then used for prenatal diagnosis for the mother of the proband. The results revealed that the proband and another two male patients had hemizygotes in STS deletion. Gene microarray identified a rare deletion with a size of 1.6 Mb at Xp22.31 (chrX: 6,516,735-8,131,442). Two female family members were found to be carriers. Prenatal diagnosis showed that the fetus carried by the proband's mother was a carrier of this microdeletion. This study showed STS gene deletion in this family of XLI, which causes the unique skin lesions of XLI. MLPA is a convenient and reliable technique for the molecular and prenatal diagnosis of XLI.
Child ; Humans ; Ichthyosis, X-Linked ; diagnosis ; genetics ; Male ; Mutation ; Polymorphism, Single Nucleotide ; Prenatal Diagnosis ; Steryl-Sulfatase ; genetics

Medium- and short-chain acyl-CoA dehydrogenase deficiency is a disorder of fatty acid β-oxidation. Gene mutation prevents medium- and short-chain fatty acids from entry into mitochondria for oxidation, which leads to multiple organ dysfunction. In this study, serum acylcarnitines and the organic acid profile in urea were analyzed in two children whose clinical symptoms were hypoglycemia and metabolic acidosis. Moreover, gene mutations in the two children and their parents were evaluated. One of the patients was a 3-day-old male who was admitted to the hospital due to neonatal asphyxia, sucking weakness, and sleepiness. The serum acylcarnitine profile showed increases in medium-chain acylcarnitines (C6-C10), particularly in C8, which showed a concentration of 3.52 μmol/L (reference value: 0.02-0.2 μmol/L). The analysis of organic acids in urea gave a normal result. Sanger sequencing revealed a reported c.580A>G (p.Asn194Asp) homozygous mutation at exon 7 of the ACADM gene. The other patient was a 3-month-old female who was admitted to the hospital due to cough and recurrent fever for around 10 days. The serum acylcarnitine profile showed an increase in serum C4 level, which was 1.66 μmol/L (reference value: 0.06-0.6 μmol/L). The analysis of organic acids in urea showed an increase in the level of ethyl malonic acid, which was 55.9 (reference value: 0-6.2). Sanger sequencing revealed a reported c.625G>A (p.Gly209Ser) homozygous mutation in the ACADS gene. This study indicates that screening tests for genetic metabolic diseases are recommended for children who have unexplained metabolic acidosis and hypoglycemia. Genetic analyses of the ACADM and ACADS genes are helpful for the diagnosis of medium- and short-chain acyl-CoA dehydrogenase deficiency.
Acyl-CoA Dehydrogenase ; deficiency ; genetics ; Carnitine ; analogs & derivatives ; blood ; Female ; Humans ; Infant ; Infant, Newborn ; Lipid Metabolism, Inborn Errors ; genetics ; Male ; Mutation ; Urea ; analysis

OBJECTIVETo study the gene mutation profile of primary carnitine deficiency (PCD) in neonates, and to provide a theoretical basis for early diagnosis and treatment, genetic counseling, and prenatal diagnosis of PCD.

METHODSAcylcarnitine profile analysis was performed by tandem mass spectrometry using 34 167 dry blood spots on filter paper. The SLC22A5 gene was sequenced and analyzed in neonates with free carnitine (C0) levels lower than 10 μmol/L as well as their parents.

RESULTSIn the acylcarnitine profile analysis, a C0 level lower than 10 μmol/L was found in 10 neonates, but C0 level was not reduced in their mothers. The 10 neonates had 10 types of mutations at 20 different sites in the SLC22A5 gene, which included 4 previously unreported mutations: c.976C>T, c.919delG, c.517delC, and c.338G>A. Bioinformatics analysis showed that the four new mutations were associated with a risk of high pathogenicity.

CONCLUSIONSTandem mass spectrometry combined with SLC22A5 gene sequencing may be useful for the early diagnosis of PCD. Identification of new mutations enriches the SLC22A5 gene mutation profile.

Cardiomyopathies ; diagnosis ; genetics ; Carnitine ; deficiency ; genetics ; Computational Biology ; Genetic Counseling ; Humans ; Hyperammonemia ; diagnosis ; genetics ; Infant, Newborn ; Muscular Diseases ; diagnosis ; genetics ; Mutation ; Solute Carrier Family 22 Member 5 ; genetics ; Tandem Mass Spectrometry

Objective: To observe effect of modified Maimendong Tang combined with cisplatin on the cell proliferation, apoptosis, invasion and metastasis and the protein expressions of Caspase-3, epidermal growth factor receptor(EGFR)of human lung adenocarcinoma A549 cells in vitro, so as to investigate their relevant mechanisms in inhibiting cells proliferation, invasion and metastasis and inducing apoptosis of A549 cells. Method: The lung cancer cells A549 were respectively treated with modified Maimendong Tang(15 g·L^-1), cisplatin(9 mg·L^-1), and combined drugs. Afterwards, they were divided into control group, modified Maimendong Tang group, cisplatin group and modified Maimendong Tang combined with cisplatin group. Thiazolyl blue tetrazolium bromide (MTT) assay was used to evaluate the proliferation of A549 cells treated with different concentrations of modified Maimendong Tang(0, 5, 10, 15, 20, 25 g·L^-1) and cisplatin(0, 3, 6, 9, 12, 15 mg·L^-1) for 24, 48, 72 h. The proliferation of A549 cells in each group was detected by MTT assay; flow cytometry was used to detect the degree of apoptosis and cycle in the above four groups of cells; scratch test and transwell migration test were performed to observe the abilities of invasion and metastasis of each group; Western blot was used to detect Caspase-3 and EGFR protein expression. Result: The concentration of modified Maimendong Tang and cisplatin and the time of intervention were negatively correlated with the proliferative capacity of A549 cells (P<0.05); compared with control group, modified Maimendong Tang could reduce the expressions of Caspase-3 and EGFR obviously (P<0.05); compared with cisplatin group and modified Maimendong Tang group, the modified Maimendong Tang combined with cisplatin group significantly inhibited the proliferation of lung cancer cell and induced its apoptosis, the number of cells in G₀/G₁ phase increased apparently, and the cells in S phase decreased significantly (P<0.05); compared with other groups, A549 cells treated with the combined drug showed the poorest ability of scar healing, the number of them passing through the transwell chamber significantly reduced, and the protein expressions of Caspase-3 and EGFR down-regulated (P<0.05). Conclusion: Modified Maimendong Tang combined with cisplatin can inhibit the proliferation, invasion and metastasis and induce the apoptosis of lung cancer cells. Modified Maimendong Tang can synergistically enhance the action of cisplatin. The mechanism may be related to the down-regulation of Caspase-3 and EGFR protein expressions.

OBJECTIVETo explore the better treatment of postmenopausal osteoporosis of liver and kidney deficiency type.

METHODSOne hundred and five cases were randomly divided into an observation group, a control group A and a control group B equally. In control group A, Calcichew D3 tablets were taken with oral administration; in control group B, Calcichew D3 tablets and Xianling Gubao capsule were taken with oral administration. In observation group, Calcichew D3 tablets and acupoint catgut embedding were applied; Shenshu (BL 23), Ganshu (BL 18), Jiaji (EX-B 2) and Weizhong (BL 40) etc. were selected at acute stage; Shenshu (BL 23) and Ganshu (BL 18) etc. were selected at remission stage, once every half a month and 6 months treatment in all. The Visual Analogue Scale (VAS), bone mineral density(BMD), estradiol (E2) and clinical effects were compared among groups.

RESULTSAfter 3 and 6 months treatment, the scores of VAS were reduced among groups (all P < 0.01); the reduction in observation group and control group B was superior to that in control group A (all P < 0.001), and it was more obvious in observation group than that in control group B (both P < 0.001). After 6 months treatment, lumbar BMD and the serum level of Ez improved obviously in observation group and control group B (all P < 0.01). The comparison among groups after treatment showed that the BMD in observation group and control group B was superior o o that in control group A (P < 0.01, P < 0.05); the serum level of E2 in observation group was superior to that in control group B and control group A (both P < 0.001), and it in control group B was superior to that in control group A. The total effective rate was 91.4% (32/35) in observation group, superior to that in control group A (57.1%, 20/35); and the total effective rate was 82. 9% (29/35) in control group B, superior to that in control group A.

CONCLUSIONCalcichew D3 tablets and acupoint catgut embedding therapy can relieve the pain caused by postmenopausal osteoporosis of liver and kidney deficiency, improve the bone mineral density and serum level of estradiol; in brief, it is the better method.

Acupuncture Points ; Acupuncture Therapy ; Aged ; Catgut ; Female ; Humans ; Kidney ; physiopathology ; Liver ; physiopathology ; Middle Aged ; Osteoporosis, Postmenopausal ; drug therapy ; physiopathology ; therapy ; Vitamin D ; therapeutic use

OBJECTIVETo study therapeutic effects of embracing knee and rolling lumbar (EKRL) training on the pain and the function of lumbar of patients with degenerative osteoarthritis of lumbar spine.

METHODSFrom 2006.8 to 2008.1, 150 patients with degenerative osteoarthritis of lumbar spine were randomly divided into the control group, EKRL training group and the combined group. In the control group (n=50), there were 16 females and 34 males, the average age was (58.8 +/- 10.2) years and the average course of diseases was (16.3 +/- 14.9) months. In the EKRL training group (n=50), there were 13 females and 37 males, the average age was (60.1 +/- 8.2) years and the average course of disease was (17.1 +/- 15.3) months. In the combined group (n=50), there were 15 females and 35 males, the average ages was (59.9 +/- 11.4) years and the average course of diseases was (19.8 +/- 17.2) months. The patients in three groups were treated with Meloxicam tablets, EKRL training and two above methods combination respectively. After 3 weeks treatment, the curative effect, the visual analogous scores and the ODI indexes were observed. All the patients were followed up and the duration ranged from 6 to 24 months; the changes of average ODI indexes were observed monthly.

RESULTSAfter 3 weeks treatment, the therapeutic effects in three groups had obvious difference after Ridit analyses: there were significant differences between the combined group and other two groups (P<0.01), but no obvious differences existed in other two groups. Compared with before treatment, the visual analogue scale scores and the ODI indexes in three groups reduced significantly (P<0.01). After treatment, the visual analogue scale scores and the ODI indexes of the combined group had significant differences compared with those of other two groups (P<0.01), but the ODI indexes of other two groups had no obvious differences. After 6 to 24 months following-up, the monthly changes of average ODI indexes of EKRL training and combined groups had obvious differences compared with that of the control group (P<0.01).

CONCLUSIONEKRL training is a simple, no expense and effective methods for preventing and treating degenerative osteoarthritis of lumbar spine.

Adult ; Aged ; Case-Control Studies ; Exercise Therapy ; methods ; Female ; Follow-Up Studies ; Humans ; Knee ; Lumbar Vertebrae ; Male ; Middle Aged ; Osteoarthritis ; prevention & control ; therapy