Objective To evaluate the efficacy of medial femoral tubed skin flap combined with penile elongation for repairing long-segment penile defects.Methods From June 2009 to January 2015,13 cases of long-segment penile defects were treated by medial femoral tubed skin flap with pe nile elongation.Results All cases were followed up for 0.5 to 5.0 years.All flaps survived and all patients had the minor scar in donor areas,with good appearance and feeling of penis.The length of pe nis in flaccid state was 6.3±1.6 cm.The length of penis in erection state was 8.5±1.2 cm;The circumference of penis was 5.3±1.9 cm.1.0 cm × 0.7 cm of necrosis at distal parts occurred in one case early after operation,and healed after dressing changes.Two cases had tumid appearance which influenced penile appearance and sexual intercourse.It was improved by local liposuction.No feeling and e rectile dysfunction developed during the following-up.Except 5 cases who did not married,the other married patients and their partners were satisfied or quite satisfied with sexual intercourse activity.Conclusions Medial femoral tubed skin flap combined with penile elongation is a good method for the treatment of long-segment penile defects.The prosthetic penis could have suitable length,good ap pearance,good feeling and erectile function.

[ ABSTRACT] AIM: To investigate the underlying genetic changes of a Chinese patient with infantile malignant osteopetrosis ( IMO) .IMO is a monogenic disease, mostly caused by mutations of TCIRG1 and CLCN7 genes.The former is believed a homozygous gene and only cause the disease in homozygous or compound heterozygous status.However, it has been reported that heterozygous mutations also cause the disease in 6 non-Chinese cases.METHODS:Genomic DNA was extracted from peripheral blood of the patient and his parents.All exons and splice sites of TCIRG1 and CLCN7 genes were amplified by PCR followed by Sanger sequencing.Mutation detection in the 2 genes was also investigated in the parents. Haplotypes were constructed by variations obtained in mutation detection and microsatillites flanking TCIRG1 gene in the family by Cyrillic.Chromosomal microarray analysis ( CMA) was performed to detect copy number variations ( CNV) of the patient and his mother.RESULTS:A novel mutation c.449_452delAGAG ( p.Gln149Glnfs16) was detected in the pa-tient.This mutation truncated 666 amino acids at the C terminal of the V-ATPase 116 kD isoform a3 protein.It wiped out the entire ATPase V0 complex and was predicted to result in total loss of protein function.This mutation was also detected in the patient’ s father.No pathogenic mutation was detected in CLCN7 gene.CMA did not reveal any CNV involving TCIRG1 or CLCN7 gene.CONCLUSION:We reported a novel heterozygous mutation of TCIRG1 gene causing IMO.This represents the first IMO case in China caused by heterozygous TCIRG1 gene mutation.

BACKGROUND:Interleukin-1 receptor-associated kinase 4 activity-induced inflammations and infection have been extensively accepted. However, there was no report concerning its effects on flap ischemia-reperfusion injury. OBJECTIVE:To explore the significance of interleukin-1 receptor-associated kinase 4 activity in flap ischemia-reperfusion injury. METHODS:A total of 36 adult male Sprague-Dawley rats were randomized into sham-operated group (n=12), ischemia-reperfusion group (n=12) and interleukin-1 receptor-associated kinase 4 group (n=12). The models of right lower abdominal island flap ischemia-reperfusion injury were set up. Interleukin-1 receptor-associated kinase 4 group was intraperitoneal y injected with 1 mL of interleukin-1 receptor-associated kinase 4 (100μmol/L) before reperfusion. The flaps were col ected at 1, 2, 4, and 6 hours after ischemia-reperfusion injury for histopathhological observation. At 1 hour after ischemia-reperfusion, protein expression of interleukin-1 receptor-associated kinase 4 was detected in flaps. The proportion of flap survival was calculated at 7 days after surgery.RESULTS AND CONCLUSION:Histopathological observation demonstrated that compared with the ischemia-reperfusion injury group, neutrophil infiltration and edema was evidently improved, and the protein expression of interleukin-1 receptor-associated kinase 4 was gradual y reduced in the interleukin-1 receptor-associated kinase 4 group. Flap survival proportions were respectively (51.70 ±7.62)%and (86.56±12.23)%in the ischemia-reperfusion injury group and interleukin-1 receptor-associated kinase 4 group at 7 days after surgery. There were significant differences in the flap survival proportion between the two groups (P<0.01). These results showed that after flap ischemia-reperfusion injury, the inhibition of interleukin-1 receptor-associated kinase 4 activities could elevate the survival rate of transplanted flap.

Objective To discuss the reasons of iatrogenic nipple-areola necrosis and to investigate clinical effect of nipple-areola reconstruction by three-bladed flap combined with free skin graft.Methods Between May 2012 and May 2015,13 patients with nipple-areola necrosis caused by iatrogenic reasons were treated with our new method.We designed a skate flap on the new nipple site.After incising skin,three-bladed flap was cross-stitched to form a new nipple.New areola was reconstructed by free skin graft,which was obtained from perineum or contralateral areola,and margin of the donor area was sutured after proper free from surrounding tissues.Being deducted subcutaneous tissue,the full-thickness skin graft was sutured around the nipple just like letter O.After operation,the areola area was pressurized bandaging,and the nipple was drawn by silk at least one month.Results The incisions were all primary healing.Over a mean period of 8 months (range 6-18),all patients were satisfied with the results.No significant asymmetry occured.The average nipple retraction rate was 10.03％.In 13 patients,there was no infection,bleeding or hematoma and skin flap necrosis.Conclusions Nipple-areola necrosis occurs when the blood supply is not protected carefully during a breast plastic surgery.Therefore,we take full advantage of the scar tissue which has hyperpigmentation.Reconstructive nipple-areola complex has good shape,and there is no need to tattoo after operation.

Early diagnosis and intervention is an important way to delay the progress of Alzheimer′s disease (AD).Compared with cerebrospinal fluid, blood sampling is not invasive and easy to be obtained in clinic practice.In this study, the serum samples of 9 controls, 10 AD and 12 mild cognitive dysfunction (MCI) patients were analyzed and compared through one by one analysis to screen potential markers for AD diagnosis.The experimental results showed that VGFYESDVMGR of α-2-macroglobulin peptide was closely related to the late stage of AD disease, and the large amount degradation of apolipoprotein C-Ⅲ, histone H1.2 and histone H1.4 was significantly related to early stages of AD progression.The characteristics of serum peptidome were different for the early and late AD, and these four proteins may be used as potential biomarkers of AD disease.In addition, the obvious ladder sequence characteristic was observed for apolipoprotein C-Ⅲ and histone H1, which could partly explain why the peptides distribution in different samples was somewhat contingent.On the contrary, the distribution at protein level was more stable.Finally, it was confirmed that the peptides of proteins such as fibrinogen α-chain, thymosin β-4 and patchy proteins were the dominant peptides in all serum samples.Overall, this study showed that the method of using serum peptidomics to diagnose AD was possible.The results may provide evidence and references for the large-scale clinical validation of AD.

A novel probe (DNSBN) towards biothiols on the basis of 4-hydroxynaphthalimide as fluorophores and 2, 4-dinitrobenzenesulfonyloxy group as specific recognition site was designed and synthesized.The result of absorption and fluorescence spectral analyses indicated that the probe had high sensitivity and selectivity towards cysteine (Cys), homocysteine (Hcy) and glutathione (GSH), and the detection was not affected by other 17 kinds of natural amino acids.Meanwhile, it was confirmed that DNSBN was a ratiometric probe through the fluorescence titration experiment, and the fluorescent intensity at 555 nm had a high linear relationship with biothiols concentration in the range of 0-20 μmol/L.The detection limits (3σ) of Cys, Hcy and GSH were 25.9, 92.0 and 77.9 nmol/L, respectively.The absorption, emission and mass spectra indicated that biothiols could be engaged in nucleophilic substitution reaction with 2,4-dinitrobenzenesulfonate, which induced the sulfonic esters decomposed.With the departure of receptor unit, the d-PeT progress (donor-excited photoinduced electron transfer) was blocked with an obvious colorimetric and fluorescence change.Finally, HeLa cell imaging experiments verified that DNSBN had good biocompatibility and could be used to detect exogenous biothiols.

Objective To investigate the effect of superomedial pedicle reduction mammaplasty in the treatment of severe gynecomastia.Methods 24 males with severe gynecomastia were involved in this study,who underwent superomedial pedicle reduction mammaplasty.Results All the patients were followed up for one to two years,and there were no complications such as skin necrosis,nippleareolar complex (N A C) hypaesthesia,hematoma or infection occurred.Minimal wound dehiscence occurred in two cases,and the rest cases were healed well.Conclusions Superomedial pedicle reduction mammaplasty in the treatment of severe gynecomastia could achieve satisfactory results,and good breast shapes are produced.

Objcetive To investigate the relationship between blood β-hydroxybutyric acid and urine ketone in the di-agnosis of diabetic ketosis (DK). Methods Peripheral blood β-hydroxybutyric acid and urine ketone were detected when the peripheral blood glucose was more than 13.9 mmol/L in patients with diabetes. Results (1) In 81 diabetes pa-tients with blood glucose more than 13.9 mmol/L, the incidence of DK was 13.58% and the incidence of diabetic ke-toacidosis (DKA) was 9.88%. (2) The peripheral blood glucose was positively correlated with β-hydroxybutyric acid (r=0.330, P=0.003), but it was not correlated with urine ketone. (3) The peripheral blood β-hydroxybutyric acid was posi-tively correlated with urine ketone (r=0.516, P=0.000). (4) In patients with DK or DKA, 5.26%(1/19) of those were with urine ketone(-) or (+-), whereas 36.84% (7/19) of those were with blood β-hydroxybutyric acid less than 1 mmol/L. (5) When urine ketone was used as the reference test for diagnosis of DK, the optimal value of blood β-hydroxybutyric acid was 0.35 mmol/L. Conclusion For missed diagnosis of DK may be happend if blood β-hydroxybutyric acid or urine ketone is used alone, the co-monitoring of blood β-hydroxybutyric acid and urine ketone can reduce the inci-dence of missed diagnosis of DK. The urine ketosis may have existed when the blood β-hydroxybutyric acid is slightly elevated (≥0.35 mmol/L). In the situation, the urine ketone should be tested in order to avoid missed diagnosis of DK.

Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes.
Clavicle ; Cleidocranial Dysplasia* ; Cone-Beam Computed Tomography ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Humans ; Odontoma ; Skull ; Sutures ; Tooth, Deciduous ; Tooth, Supernumerary ; Transcription Factors ; Young Adult

Objective To translate English version of sensory-motor profile awake ( SMP-a) into Chinese version (the Chinese Version of SMP-a),and analyze the reliability and validity of the scale before and after craniotomy under awakening anesthesia. Methods Eighty-one patients whose tumors were located near or already in sensory-motor functional area were included in this study. Before and after awake cranioto-my,the Chinese version of SMP-a was used to accurately assess the sensory-motor function of each patient. Finally, the reliability and validity of the scale were analyzed by SPSS statistical software. Results Cronbach's α coefficient in the Chinese version of SMP-a was 0. 971,and Cronbach's α coefficient in the four subscales of face,hand,leg and sensation was 0. 965,0. 989,0. 981 and 0. 970,respectively. The test-retest reliability of the Chinese version of sensorimotor assessment scale was 0. 910,0. 904,0. 884,0. 898 and 0. 695 (total,face,hands,legs and sensory score respectively). The raters' consistency reliability was above 0. 949,0. 960,0. 934,0. 887 and 0. 660,respectively. The Pearson correlation coefficients of sensorimotor function score with SF-36 physiological function factors and KPS score were 0. 868 and 0. 790,respectively. Conclusion Before or after operation,the Chinese version of SMP-a has preferable reliability,internal con-sistency reliability and structural validity. It is feasible in awakening anesthesia craniotomy,and the degree of damage can be determined by repeated measurement of the sensorimotor sites that may be impaired by the patient.