Objective To report the results of distally based lateral supramalleolar flap for the reconstruction of dorsal aspect of foot. Methods Twelve patients with soft tissue defects in the dorsal aspect of foot were treated with distally based lateral supramalleolar flap. The largest flap size was 9 cm? 6 cm, the smallest was 5 cm? 4 cm, with an average of 6 cm? 5 cm. Results The flap survived in all 12 patients. The color and texture of the flaps were nearly normal. Their appearance and function were satisfactory after 3 weeks to 24 months follow- up. Conclusion Distally based lateral supramalleolar flap is a reliable flap. The dissection is easy. The flap has a rich blood supply without sacrifice of major artery. It can be used reliably for the reconstruction of dorsal aspect of foot.

BACKGROUND: Recombinant human bone morphogenetic protein-2 (rhBMP-2) has been widely used on clinic; however, there are still few reports addressing rhBMP-2-induced osteogenesis in intervertebral disc.OBJECTIVE: To verify the effect of rhBMP-2 to induce interbody fusion in rabbits.DESIGN, TIME AND SETTING: Randomized controlled animal study and multi-level evaluation, which was performed in Affiliated Hospital of Medical College of Qingdao University from February to July 2007.MATERIALS: 24 adult New-Zealand rabbits weighing 3.5-4.5 kg were used to expose L4-5 and L5-6 intervertebral disc; rhBMP-2 (1 mg/ampoule, purity≥95%) was provided by Beijing Bailingke Biological Products Co., Ltd.METHODS: 24 rabbits were randomly divided into experimental group and control group with 12 rabbits for each. In the experimental group, saline (20 μL, containing 200 μg rhBMP-2) was injected into nucleus pulposus of L4-5 intervertebral disc; equivalent saline was inserted into nucleus pulposus of L5-6 intervertebral disc as controls. Rabbits in the control group were injected with saline (20 μL) into nucleus pulposus of L4-5 intervertebral disc.MAIN OUTCOME MEASURES: Morphological changes of injected segments were observed by hand-feeling check together with histological and imaging tests at 10, 30, 60, and 90 days postoperatively.RESULTS: 24 rabbits were included in the final analysis. ①In the experimental group, the motion range of L4-5 segment was not limited at 10 days postoperatively, and lightly limited at 30 days, but severely limited at 60 days postoperatively; L4-5 segment was fixed tightly at 90 days postoperatively. Moreover, motion range of L5-6,segment and articular motion range in the control group were not changed remarkably. ② L4-5 interbedy space was narrowed at 10 days or even disappeared at 90 days postoperatively, and then osteogenesis fusion was formed. Transmittance of intervertebral space in the L5-6 segment and in the control group was not changed obviously. ③ Nucleus pulposus was gradually shrunk at 10 days postoperatively; partial cartilage endplate transformed into mature woven bone, and collagen fiber structure of annulus fibrosus gradually disappeared at 90 days postoperatively. A lot of mesenchymal cells were aggregated surrounding annulus fibrosus at 10 and 30 days postoperatively. Moreover, mature woven bone was formed in annulus fibrosus near to cartilage endplate at 90 days postoperatively. However, histological and morphological changes were not found in the control group at those four time points.CONCLUSION: rhBMP-2 can induce intervertebral disc osteogenesis so as to achieve interbody fusion.

OBJECTIVETo investigate the safety of different level of tween 80 by comparing the degree of pseudoanaphylactoid reactions (PR) induced by medicinal tween 80 and injectable tween 80.

METHODThe analysis of vascular permeability of the mice ears: ICR mouse were divided into different test groups, the mice were intravenously injected with solutions of medicinal tween 80 and injectable tween 80 with 0.2%, 1% and 5% concentration, positive control Compound 48/80 and 5% glucose injection. All test substances were mixed with 0.4% Evans blue. The reaction and vascular permeability of the ears were observed and measured 30 min after injection. The analysis of vascular permeability of the rat's skin: the rats were intravenous injected with 0. 6% Evans blue normal saline solution first, 10 minutes later, the same substances were intradermal administrated into the back of rats. The rats were sacrificed and the diameter of locus ceruleus and the content of Evans blue leak out were measured 20 min after injection.

RESULTMedicinal tween 80 and injectable tween 80 with 5% concentration caused obvious vascular hyper permeability in ICR mice, but the degree of vascular hyperpermeability caused by injectable tween 80 was lighter than by medicinal tween 80. Other tween 80 didn't cause obvious vascular hyper permeability in the ears of mouse. The solution of different concentration of tween 80 caused obvious locus ceruleus reaction in rat's back. As for the content Evans blue leak out, there was no statistical significance between each group except positive control Compound 48/80 group.

CONCLUSIONTween 80 can cause obvious vascular hyper permeability and the effect is dose dependent, which indicated that tween 80 can cause PR. On the other hand, injectable tween 80 is more security than medicinal tween 80, the dosage of tween 80 should be still controlled strictly so that to decrease the incidence of PR.

Anaphylaxis ; chemically induced ; Animals ; Injections ; methods ; Male ; Mice ; Mice, Inbred ICR ; Polysorbates ; toxicity ; Rats ; Rats, Wistar

OBJECTIVETo investigate a possibility to improve the security of pulse-activating injection by comparing the difference of pseudoanaphylactoid reactions (PR) induced by pulse-activating injection before and after improving technology.

METHODThe analysis of vascular permeability of the mice's ears: ICR mouse were divided into different test groups, and intravenously injected with solutions of different concentration of pulse-activating injection before and after improving technology, positive control Compound 48/80 and 5% glucose injection. All test substances were mixed with 0. 4% Evans blue. The reaction and vascular permeability of the ears were observed and measured 30 min after injection. The vascular permeability of the rat's skin: the rats were intravenous injected with 0. 6% Evans blue normal saline solution first, 10 minutes later, the same test substances were intradermal injected into the back of rats, there are 16 injected spots in the back of rat. The rats were sacrificed and the diameter of locus ceruleus and the content of Evans blue leaked out were measured 20 min after injection.

RESULTPulse-activating injection before improving technology with dose of 16.7 mL x kg(-1) ( in 1.67 times the clinical dose ) caused obvious vascular hyperpermeability in ICR mice. In the group of pulse-activating injection before improving technology with dose of 10 mL x kg(-1) (in clinic equivalent dose), no obvious vascular hyperpermeability in the ears were observed. The degrees of vascular hyperpermeability in the group of pulse-activating injection after improving technology with dose of 16.7 mL x kg(-1) were more lessen than the same dose of injection before improving technology. Pulse-activating injection before improving technology caused obvious exudation, oedema locus ceruleus in the injection site of rat's back, and it showed a certain dose-effect relation. Pulse-activating injection after improving technology caused locus ceruleus in the injection site too, but the diameters of the locus ceruleus were shorter than the diameters in the group of pulse-activating injection before improving technology, and the contents of leaked out Evans blue were fewer. All of these showed that PR of skin induced by pulse-activating injection after improving technology is alleviated.

CONCLUSIONPulse-activating injection before improving technology cause obvious vascular hyperpermeability, but the same dose of pulse-activating injection after improving technology can't cause obvious vascular hyperpermeability. The result indicated that the pulse-activating injection before improving technology can cause PR, improving technology can lessen the degree of PR induced by the injection.

Anaphylaxis ; chemically induced ; Animals ; Capillary Permeability ; drug effects ; Injections, Intravenous ; methods ; Male ; Mice ; Mice, Inbred ICR ; Rats ; Skin ; drug effects

Objective: To report clinical feature and results of genetic analysis of 3 patients from 2 families with Finnish variant late infantile neuronal ceroid lipofuscinosis. Methods: The clinical and ultrastructural features of 3 patients with progressive neurodegenerative diseases were retrospectively analyzed from October 2014 to December 2016 in Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center. The whole exon sequencing and Sanger sequencing were used to analyze the molecular genetics of the patients and their parents. Results: The probands were 11 years and 3 moths, 9 years and 1 month,10 years and 1 month old. All were normal at birth, and from 5-6 years old they began to develop "regression of cognition and motion, impaired vision". Physical examination at the first consultation: clear minded butignorant, unable to speak and understand instructions, unable to stand up and sit alone, unable to maintain postureupright. The brain magnetic resonance imaging(MRI) indicated diffuse cerebral and cerebellar atrophy, white matter damage. Blood biochemistry, lactic acid, acid-base balancewere normal. Electron microscopic examination of peripheral blood lymphocytes showed swelling of the nucleus, autophagy, intracellular massive deposits and abnormal vacuoles. Two compound heterozygous c.334C> T (p.Arg112Cys) and c.595C> T (p.Arg199Ter) mutations of CLN5 gene were identified in the two siblings, and the proband 3 was c.335G> A (p.Arg199His) homozyousmutation, which were inherited from their unaffected parents. Conclusions The 3 cases with Finnish variant late infantileneuronal ceroid lipofuscinosises were normal at birth, cognitive and motor function was regressed at preschool age.Brain MRI showed whole brain atrophy, white matter lesions, there were no bovious difference from other neurodegenerative diseases. Blood biochemistry and pathological examination of lymphocytes had no specific changes. The pathogenic genes were CLN5,most are inherited in autosomal recessive way.

Objective To evaluate the sensitivity and specificity of enzyme assays,and to provide disease spectrum of lysosomal storage diseases (LSDs).Methods Three thousand three hundred and sixty-four high risk individuals were screened for 24 LSDs at Guangzhou Women and Children's Medical Center between January 2009 and December 2016.Twenty-two kinds of enzyme activities from peripheral blood leucocytes or plasma were measured by using the fluorometry or colorimetry of corresponding artificial substrates,screening for 24 LSDs diseases.Measurement data were represented by (x) ± s,and count data were expressed as a percentage or composition ratio.Results A total of 283 subjects were diagnosed with 18 different kinds of LSDs,and the positive rate of high-risk screening was 8.4％.Among the identified patients,172 cases (60.8％) were mucopolysaccharidosis (MPS),79 cases (27.9％) were sphingolipidoses,18 cases (6.4％) were Pompe diseases,10 cases (3.5％) were affected with mucolipidoses,3 cases (1.1％) were glycoprotein storage diseases,and 1 case(0.4％) was Wolman disease.Of the MPS cases,there were 75 cases of MPS Ⅱ (43.6％),45 cases of MP5 ⅣA (26.2％),24 cases of MPS Ⅵ (14.0％) and 20 cases of MPS Ⅰ (11.6％).Gaucher disease (23/79 cases,29.1％) and metachromatic leukodystrophy (MLD) (21/79 cases,26.6％) were common in sphingolipidoses group.Both the sensitivity and specificity of enzyme assays on peripheral blood leucocytes for LSDs were 100％.Conclusions The most common kinds of LSDs are MPS Ⅱ,MPS Ⅳ A,MPS Ⅵ,Gaucher disease,MLD and Pompe disease.Leukocyte enzymology analysis of high-risk screening LSDs has high sensitivity and specificity.

OBJECTIVEUnstable intertrochanteric fractures (ITFs) are mostly treated by proximal femoral nail antirotation (PFNA), Inter-Tan, Asian Hip, and other new internal fixation devices. But for complex unstable fractures, such as crushed lateral wall of the greater trochanter, the loss of fixation point on lateral wall slightly reduces the fixing effect. This study aimed to compare the biomechanical strengths between reversed less invasive stabilization system (LISS) and PFNA for treatment of unstable ITFs.

METHODSForty synthetic femurs were used to simulate unstable ITFs in vitro and were fixed using the reversed LISS or PFNA. These fractures were divided into two groups depending on whether the lateral wall of the greater trochanter is intact or not (AO classification: 31-A2.3 and 31-A3.3, respectively). The load-displacement of femur, stiffness, ultimate load, and cyclic fatigue resistance were detected using an incremental load test and a dynamic fatigue test through an MTS 858 test system.

RESULTSFor both 31-A2.3 and 31-A3.3, the vertical sinking displacement (VSD) of the femoral head under 500 N load was insignificantly smaller after treatment with reversed LISS than with PFNA, and when the displacement was 5 mm, the femoral head bore insignificantly greater load. The fixation with reversed LISS resulted in greater axial stiffness of the femur but smaller ultimate load. During the same cycle in the dynamic fatigue test, the VSD was insignificantly smaller with the fixation of reversed LISS.

CONCLUSIONReversed LISS and PFNA have similar biomechanical strength for unstable ITFs. This conclusion should be supported by additional large-size research on basic biomechanics and clinical application. This is the first comparative biomechanical study comparing reversed LISS and PFNA for unstable ITFs.

Biomechanical Phenomena ; Bone Nails ; Femur ; surgery ; Fracture Fixation, Internal ; methods ; Fracture Fixation, Intramedullary ; methods ; Hip Fractures ; surgery ; Humans

Plant metabolites are important for plant development and human health. Plants of celery (Apiumgraveolens L.) with different-colored petioles have been formed in the course of long-term evolution. However, the composition, content distribution, and mechanisms of accumulation of metabolites in different-colored petioles remain elusive. Using ultra-high performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS), 1159 metabolites, including 100 lipids, 72 organic acids and derivatives, 83 phenylpropanoids and polyketides, and several alkaloids and terpenoids, were quantified in four celery cultivars, each with a different petiole color. There were significant differences in the types and contents of metabolites in celery with different-colored petioles, with the most striking difference between green celery and purple celery, followed by white celery and green celery. Annotated analysis of metabolic pathways showed that the metabolites of the different-colored petioles were significantly enriched in biosynthetic pathways such as anthocyanin, flavonoid, and chlorophyll pathways, suggesting that these metabolic pathways may play a key role in determining petiole color in celery. The content of chlorophyll in green celery was significantly higher than that in other celery cultivars, yellow celery was rich in carotenoids, and the content of anthocyanin in purple celery was significantly higher than that in the other celery cultivars. The color of the celery petioles was significantly correlated with the content of related metabolites. Among the four celery cultivars, the metabolites of the anthocyanin biosynthesis pathway were enriched in purple celery. The results of quantitative real-time polymerase chain reaction (qRT-PCR) suggested that the differential expression of the chalcone synthase (CHS) gene in the anthocyanin biosynthesis pathway might affect the biosynthesis of anthocyanin in celery. In addition, HPLC analysis revealed that cyanidin is the main pigment in purple celery. This study explored the differences in the types and contents of metabolites in celery cultivars with different-colored petioles and identified key substances for color formation. The results provide a theoretical basis and technical support for genetic improvement of celery petiole color.
Anthocyanins ; Apium/metabolism* ; Chlorophyll/metabolism* ; Color ; Gene Expression Regulation, Plant ; Humans ; Metabolomics ; Plant Proteins/genetics* ; Tandem Mass Spectrometry

To investigate the clinical manifestations, molecular genetics and gonadal pathology characteristics of patients with disorders of sex development (DSD), and to summarize the clinical experience of identifying rare diseases from common symptoms.

The clinical data of 416 patients with DSD diagnosed and treated in the multidisciplinary center of DSD of Guangzhou Women and Children′s Medical Center from May 2018 to August 2023 were retrospectively analyzed, summarized and discussed.

According to chromosome karyotype, 416 cases of DSD were classified into three types: 92 cases(22.1%) of abnormal sex chromosome karyotype, 285 cases(68.5%) of 46, XY karyotype and 39 cases(9.4%) of 46, XX karyotype. Among the 92 patients with abnormal sex chromosome karyotype, 59 cases were raised as males, 18 cases (30.5%) complained of short penis with hypospadias and cryptorchidism. The most common karyotype was 45, X/46, XY(58 cases, 63.0%).Among the 285 patients with 46, XY karyotype, 238 cases were raised as males, and 63 cases(26.5%)complained of short penis and hypospadias; 47 cases were raised as females, and 13 cases(27.7%) complained of inguinal mass. A total of 216 patients with 46, XY karyotype were subjected to whole exome gene detection, and 155 cases(71.8%) were found to have molecular pathogenesis with the clinical phenotype. Among the 39 patients with 46, XX karyotype, 19 cases were raised as males, and 8 cases(42.1%) complained of short penis and hypospadias. In the 18 cases of gonad biopsy, 17 cases showed testicular tissue in gonads. Whole exome sequencing was performed in 14 cases. NR5A1 gene heterozygous mutation, SRY gene mutation and SOX3 gene mutation were found in 2 cases, respectively(14.3%). Twenty cases were raised as females, and 14 cases(70.0%) complained of clitoral hypertrophy. Gonad biopsy was performed in 8 cases, with 7 cases of ovotestis(87.5%) and 1 case of NR5A1 gene heterozygous mutation(14.3%).

The etiologies of DSD are complex and diverse, and the clinical manifestations are various, which can be manifested as hypospadias, micropenis, cryptorchidism and other common symptoms of the urinary system. Different etiologies have different treatment options. Therefore, chromosome karyotype, molecular genetic testing and gonadal pathology can be used to clarify the cause of disease, especially for rare diseases, improve the detection rate, reduce the rate of missed diagnosis, and ensure reasonable treatment, especially sex selection.