Study on the comparative analysis of the efficacy of transmesenteric vein extrahepatic portosystemic shunt and transjugular intrahepatic portosystemic shunt in the treatment of cavernous transformation of portal vein / 中华肝脏病杂志

Objective: To compare the safety and efficacy of transmesenteric vein extrahepatic portosystemic shunt (TEPS) and transjugular intrahepatic portosystemic shunt (TIPS) in the treatment of cavernous transformation of the portal vein (CTPV). Methods: The clinical data of CTPV patients with patency or partial patency of the superior mesenteric vein treated with TIPS or TEPS treatment in the Department of Vascular Surgery of Henan Provincial People's Hospital from January 2019 to December 2021 were selected. The differences in baseline data, surgical success rate, complication rate, incidence rate of hepatic encephalopathy, and other related indicators between TIPS and TEPS group were statistically analyzed by independent sample t-test, Mann-Whitney U test, and Chi-square test. Kaplan-Meier survival curve was used to calculate the cumulative patency rate of the shunt and the recurrence rate of postoperative portal hypertension symptoms in both groups. Results: The surgical success rate (100% vs. 65.52%), surgical complication rate (6.67% vs. 36.84%), cumulative shunt patency rate (100% vs. 70.70%), and cumulative symptom recurrence rate (0% vs. 25.71%) of the TEPS group and TIPS group were statistically significantly different (P < 0.05). The time of establishing the shunt [28 (2141) min vs. 82 (51206) min], the number of stents used [1 (12) vs. 2 (15)], and the length of the shunt [10 (912) cm vs. 16 (1220) cm] were statistically significant between the two groups (t = -3.764, -4.059, -1.765, P < 0.05). The incidence of postoperative hepatic encephalopathy in the TEPS group and TIPS group was 6.67% and 15.79% respectively, with no statistically significant difference (Fisher's exact probability method, P = 0.613). The pressure of superior mesenteric vein decreased from (29.33 ± 1.99) mmHg to (14.60 ± 2.80) mmHg in the TEPS group and from (29.68 ± 2.31) mmHg to (15.79 ± 3.01) mmHg in TIPS group after surgery, and the difference was statistically significant (t = 16.625, 15.959, P < 0.01). Conclusion: The best indication of TEPS is in CTPV patients with patency or partial patency of the superior mesenteric vein. TEPS improves the accuracy and success rate of surgery and reduces the incidence of complications.

Long-term outcomes of laparoscopic ventral rectopexy for obstructive defecation with overt pelvic structural abnormalities / 中华消化外科杂志

Objective:To investigate the long-term outcomes of laparoscopic ventral rectopexy (LVR) for obstructive defecation with overt pelvic structural abnormalities.Methods:The retrospective cohort study was conducted. The clinical data of 31 obstructive defecation patients with overt pelvic structural abnormalities who were admitted to the Renji Hospital of Shanghai Jiaotong University School of Medicine from June 2014 to August 2020 were collected. There were 6 males and 25 females, aged 59(range, 32?81)years. All 31 patients underwent LVR through transabdominal approach. Observation indicators: (1) the Cleveland clinic constipation score (CCCS); (2) severity of obstructive defecation; (3) patients assessment of constipation quality of life (PAC-QoL). Follow-up was conducted using telephone interview and outpatient examination up to October 2021. One professional researcher assessed the constipation symptoms and quality of life of patients through outpatient interview or mobile software platform of Questionnaire Star. Measurement data with skewed distribution were represented as M(range), and comparison before and after operation was conducted using the Wilcoxon sign rank test. Results:(1) The CCCS. All 31 patients underwent LVR for the first time and were followed up for 61.8(range, 11.0?87.0)months. The constipation symptoms of the 22 patients were improved. The CCCS of the 31 patients before surgery and at the last follow-up time were 15.8(range, 8.0?26.0) and 10.7(range, 2.0?20.0), respectively, showing a significant difference ( Z=?3.98, P<0.05). (2) Severity of obstructive defecation. The severity scores of frequency of bowel movements, difficult of bowel movements, sensation of incomplete defecation, abdominal distension or pain, time of each bowel movements, daily unsuccessful times of defecation, artificial assisted defecation for the 31 patients were 2.9(range, 1.0?4.0), 3.0(range, 1.0?4.0), 1.9(range, 0?3.0), 0.5(range, 0?3.0), 2.6(range, 2.0?4.0), 2.0(range, 0?4.0), 0.9 (range, 0?2.0) before surgery, versus 1.7(range, 0?4.0), 1.6(range, 0?4.0), 1.2(range, 0?4.0), 0.3(range, 0?3.0), 1.7(range, 0?3.0), 1.4(range, 0?3.0), 0.7(range, 0?2.0) after surgery, respectively. There were significant differences in the frequency of bowel movements, difficult of bowel movements, sensation of in-complete defecation, abdominal distension or pain, time of each bowel movements, daily unsuccessful times of defecation for the 31 patients before and after surgery ( Z=?3.38, ?3.80, ?2.54, ?2.31, ?3.64, ?2.75, P<0.05) and there was no significant difference in the artificial assisted defecation for the 31 patients before and after surgery ( Z=?1.31, P>0.05). (3) PAC-QoL. The score of physical discomfort, satisfaction, worries and concerns, psychological discomfort for the 31 patients were 2.3(range, 1.0?4.0), 3.2(range, 1.0?4.8), 2.2(range, 0.6?4.0), 1.8(range, 0.4?3.9) before surgery, versus 1.6(range, 0?4.0), 2.3(range, 0?4.0), 1.7(range, 0?4.0), 1.3(range, 0?4.0)after surgery, respectively, showing significant differences before and after surgery ( Z=?3.49, ?2.17, ?2.50, ?3.05, P<0.05). Conclusions:The long-term outcomes of LVR for obstructive defecation with overt pelvic structural abnorma-lities are satisfactory. Symptoms as frequency of bowel movements, difficult of bowel movements, sensation of incomplete defecation, abdominal distension or pain, time of each bowel movements and daily unsuccessful times of defecation will be significantly improved after LVR and the constipation quality of life of patients will be improved.

Assessment of heart's changes of elite Chinese male weightlifter by speckle tracking echocardiography / 北京大学学报(医学版)

OBJECTIVE@#To evaluate the changes of heart structure and function in elite Chinese weightlifters by spot tracking technique.@*METHODS@#Chinese elite male weightlifters (weightlifter group, n=16) and age-matched healthy men (control group, n=16) were included as subjects. Transthoracic echocardiography and speckle-tracking automatic functional imaging were used for two-dimensional myocardial strain measurements.@*RESULTS@#The thickness of septum and left ventricular (LV) posterior wall and the myocardial mass index of LV were all higher than those of the control group [(9.3±1.3) mm vs. (8.0±0.4) mm, (9.2±0.8) mm vs. (8.0±0.8) mm, (77.8±12.8) g/m2 vs. (67.8±11.2) g/m2, all P < 0.05]. Although the LV ejection fraction (LVEF) and global long axis strain value (LVGLS) were not significantly different from those in the control group, the LV mean Sm and Em reflecting the systolic and diastolic functions of the LV were lower than those in the control group (P < 0.05). Further myocardial strain analysis showed that the absolute value of the long axial strain of the basal anteroseptal and mid-inferoseptal segments of the weightlifters were significantly lower than those of the control group [|(-15.1±4.2)%|vs.|(-18.7±3.0)%|, |(-18.8±2.6)%|vs.|(-21.3±2.8)%|, all P < 0.05]. There was no significant difference in other segments. The athletes were divided into two groups according to their best performance in the National Youth Games. The athletes were divided into two sub-groups according to their performance in the National Youth Games. The thickness of the septum in the sub-group with better performance (who ranked the 1st to 8th) was larger [(10.2±1.1) mm vs. (8.5±1.0) mm, P < 0.05], and the absolute value of the long-axis strain in the mid-inferoseptal segment was lower [|(-17.1±2.1)%|vs.|(-20.4±2.1)%|, P < 0.05].@*CONCLUSION@#The thickening of septum is more obvious in the excellent weightlifters, accompanied by the decrease of myocardial systolic function. The speckle-tracking technique of echocardiography can identify the changes of the heart structure and function of elite athletes at an early stage, which may provide a basis for sports medicine supervision and the selection of excellent talents.

Anatomical Study of the Accessory Tendon of the Extensor Hallucis Longus Muscle and Its Clinical Application

Background@#The accessory tendon of the extensor hallucis longus (ATEHL) muscle is a common abnormal structure, and its clinical significance remains debatable. In this study, we provide the incidence of the ATEHL and characterize its morphological types in Asian cadavers and investigate its clinical applications. @*Methods@#The tendons from 50 adult cadaveric feet, fixed in 10% formalin, were analyzed. We measured the length and width of both the ATEHL and the extensor hallucis brevis (EHB). @*Results@#All dissected specimens had an ATEHL. The first metatarsophalangeal joint was surrounded by an accessory tendon that inserted onto the joint capsule and the dorsal base of the proximal phalanx. We classified the ATEHL into 3 types based on their directions. Differences in ATEHL type based on sex were not statistically significant. @*Conclusions@#We found an ATEHL in all cadaveric specimens in this study. We surmise that the ATEHL acts as an antagonist with the EHB when the toe is extending, which might help prevent the occurrence of hallux valgus deformity.

Microbe-based management for colorectal cancer / 中华医学杂志(英文版)

Colorectal cancer (CRC) is one of the most prevalent, most lethal cancers in the world. Increasing evidence suggests that the intestinal microbiota is closely related to the pathogenesis and prognosis of CRC. The normal microbiota plays an essential role in maintaining gut barrier function and the immune microenvironment. Recent studies have identified carcinogenic bacteria such as enterotoxigenic Bacteroides fragilis (ETBF) and Streptococcus gallolyticus (S. gallolyticus), as well as protective bacterial such as Akkermansia muciniphila (A. muciniphila), as potential targets of CRC treatment. Gut microbiota modulation aims to restore gut dysbiosis, regulate the intestinal immune system and prevent from pathogen invasion, all of which are beneficial for CRC prevention and prognosis. The utility of probiotics, prebiotics, postbiotics, fecal microbiota transplantation and dietary inventions to treat CRC makes them novel microbe-based management tools. In this review, we describe the mechanisms involved in bacteria-derived colorectal carcinogenesis and summarized novel bacteria-related therapies for CRC. In summary, we hope to facilitate clinical applications of intestinal bacteria for preventing and treating CRC.

Anatomical Study of the Accessory Tendon of the Extensor Hallucis Longus Muscle and Its Clinical Application

Background@#The accessory tendon of the extensor hallucis longus (ATEHL) muscle is a common abnormal structure, and its clinical significance remains debatable. In this study, we provide the incidence of the ATEHL and characterize its morphological types in Asian cadavers and investigate its clinical applications. @*Methods@#The tendons from 50 adult cadaveric feet, fixed in 10% formalin, were analyzed. We measured the length and width of both the ATEHL and the extensor hallucis brevis (EHB). @*Results@#All dissected specimens had an ATEHL. The first metatarsophalangeal joint was surrounded by an accessory tendon that inserted onto the joint capsule and the dorsal base of the proximal phalanx. We classified the ATEHL into 3 types based on their directions. Differences in ATEHL type based on sex were not statistically significant. @*Conclusions@#We found an ATEHL in all cadaveric specimens in this study. We surmise that the ATEHL acts as an antagonist with the EHB when the toe is extending, which might help prevent the occurrence of hallux valgus deformity.

Enhancement of T Follicular Helper Cell-Mediated Humoral Immunity Reponses During Development of Experimental Autoimmune Myasthenia Gravis / 神经科学通报·英文版

Myasthenia gravis (MG) is a prototypical antibody-mediated neurological autoimmune disease with the involvement of humoral immune responses in its pathogenesis. T follicular helper (Tfh) cells have been implicated in many autoimmune diseases. However, whether and how Tfh cells are involved in MG remain unclear. Here, we established and studied a widely-used and approved animal model of human MG, the rat model with acetylcholine receptor alpha (AChRα) subunit (R-AChR)-induced experimental autoimmune myasthenia gravis (EAMG). This model presented mild body-weight loss 10 days after the first immunization (representing the early stage of disease) and more obvious clinical manifestations and body-weight loss 7 days after the second immunization (representing the late stage of disease). AChR-specific pre-Tfh cells and mature Tfh cells were detected in these two stages, respectively. In co-cultures of Tfh cells and B cells, the number of IgG2b-secreting B cells and the level of anti-AChR antibodies in the supernatant were higher in the cultures containing EAMG-derived Tfh cells. In immunohistochemistry and immunofluorescence assays, a substantial number of CD4/Bcl-6 T cells and a greater number of larger germinal centers were observed in lymph node tissues resected from EAMG rats. Based on these results, we hypothesize that an AChR-specific Tfh cell-mediated humoral immune response contributes to the development of EAMG.

Effect of anti-androgen and progesterone on development of regrowth antlers in 6 year old sika deer / 中国中药杂志

To investigate the effects of anti-androgen drugs and melengestrol acetate (MGA) on development of regrowth antlers in 6 year old sika deer, twenty healthysika deerwith similar body weight and antler weightwere randomly divided into five groups by using single factor test design: flutamide (=4), bicalutamide (=4), progesterone acetate (CPA, =4), melengestrol acetate (MGA, =4), control(=4). All deer were fed with same diets and were housed outside together in an opened fence of 15 m×30 m with free access to water and feed. Treatment groups were injected subcutaneously sustained-release agents of the four drugs respectively when two-branched antlers were harvested. The control group had no special treatment. In the experiment period of 60 d, blood sampleswere collected for 4 times for each deer. The concentration of testosterone in plasma was tested and analyzed to compare the changes between different groups. Development of regrowth antlers was observed. At the end of the experiment, regrowth antlers were weighted and analyzed. The resultsshowed that the weights of regrowth antlers in treatment groups were significantly greater than those from control group and the weight gain (as compared with the control group) was 100.50%, 64.46%, 87.16% and 117.46% respectively in flutamide group, bicalutamide group, progesterone acetate group and melengestrol acetate group. For plasma testosterone concentration, it was not significantly different in the early stage (in the first 35 d), but at the end of the experimen, it was significantly higher than that of earlier stage (<0.01) in various groups. Testosterone concentration of flutamide treated group was significantly lower than that of the other groups (<0.01), while the level inbicalutamide and MGA treated groups was significantly higher than that in other groups (<0.01). The results showed that both anti-androgen drugs and MGA treatment promoted the development of regrowth antlers and increased the weight of regrowth antlers, where the effect was most significant by MGA treatment. From the morphological observation of the antlers, it was found that anti-androgen and MGA treatments prolonged the growth period of regrowth antlers through delaying the ossification of antlers. However, plasma testosterone concentration was not affected by the treatments.

Preparation of diosgenin nanosuspensions / 中成药

AIM To prepare diosgenin nanosuspensions.METHODS The nanosuspensions prepared by media milling method were solidificated by freeze drying method.With particle size and polydispersity index (PDI) as evaluation indices,stabilizer kind,ratio of diosgenin to stabilizer,ratio of preliminary nanosuspension volume to grinding bead amount,milling time,lyoprotectant kind and its amount as influencing factors,single factor test was applied to screening preparation and solidification processes.The morphology of nanosuspensions was observed,then the particle sizes and polydispersity indices of nanosuspensions and freeze-dried powder were determined.RESULTS The optimal conditions were determined to be 6:1 for ratio of diosgenin to Pluronic F127 (stabilizer Ⅰ),50:1 for ratio of diogenin to sodium dodecyl sulfate (SDS,stabilizer Ⅱ),1:4 for ratio of preliminary nanosuspension volume to grinding bead amount,120 min for milling time,and 8％ PEG-6000 and 2％ mannitol as lyoprotectants.The average particle size and polydispersity index of rod-like or flaky nanosuspensions were (348.1 ±14.2) nm and 0.244 ± 0.059,respectively,which were lower than those of freeze-dried powder.At room temperature,the particle sizes of nanosuspensions and freeze-dried powder remained stable within 35 d and 3 months,respectively.CONCLUSION The physical stability of diosgenin freeze-dried powder is superior to that of its nanosuspensions,which can be used after being reconstituted.

Preparation of diosgenin nanosuspensions / 中成药

AIM To prepare diosgenin nanosuspensions.METHODS The nanosuspensions prepared by media milling method were solidificated by freeze drying method.With particle size and polydispersity index (PDI) as evaluation indices,stabilizer kind,ratio of diosgenin to stabilizer,ratio of preliminary nanosuspension volume to grinding bead amount,milling time,lyoprotectant kind and its amount as influencing factors,single factor test was applied to screening preparation and solidification processes.The morphology of nanosuspensions was observed,then the particle sizes and polydispersity indices of nanosuspensions and freeze-dried powder were determined.RESULTS The optimal conditions were determined to be 6:1 for ratio of diosgenin to Pluronic F127 (stabilizer Ⅰ),50:1 for ratio of diogenin to sodium dodecyl sulfate (SDS,stabilizer Ⅱ),1:4 for ratio of preliminary nanosuspension volume to grinding bead amount,120 min for milling time,and 8％ PEG-6000 and 2％ mannitol as lyoprotectants.The average particle size and polydispersity index of rod-like or flaky nanosuspensions were (348.1 ±14.2) nm and 0.244 ± 0.059,respectively,which were lower than those of freeze-dried powder.At room temperature,the particle sizes of nanosuspensions and freeze-dried powder remained stable within 35 d and 3 months,respectively.CONCLUSION The physical stability of diosgenin freeze-dried powder is superior to that of its nanosuspensions,which can be used after being reconstituted.

Clinical outcomes of endovascular aneurysm repair of abdominal aortic aneurysm complicated with hypertension: a 5-year experience

Objective: To evaluate the therapeutic effects of endovascular aneurysm repair [EVAR] on abdominal aortic aneurysm [AAA] complicated with hypertension

Methods: Fifty-two patients with AAA complicated with hypertension treated in our hospital were retrospectively analyzed. They were divided into an observation group [34 cases] and a control group [18 cases]. The control group was treated by incision of AAA and artificial blood vessel replacement, and the observation group was treated by EVAR

Results: All surgeries were performed successfully. However, compared with the control group, the observation group had significantly less surgical time, intraoperative blood loss and blood transfusion, as well as significantly higher total hospitalization expense [P<0.05]. During the one-month follow-up, the observation group was significantly less prone to pulmonary infection, surgical site infection, lowerextremity deep venous thrombosis and lower extremity weakness than the control group [P<0.05]. The observation group enjoyed significantly better quality of life than the control group did one and three months after surgery [P<0.05]

Conclusion: Given sufficient funding, EVAR should be preferentially selected in the treatment of AAA complicated with hypertension due to minimal invasion, safety, stable postoperative vital signs and improved quality of life

Progress in bio-based polyamides / 生物工程学报

Bio-based polyamides are environment-friendly polymers. The precursors of bio-based polyamides come from bio-based materials such as castor oil, glucose and animal oil. Bio-based polyamides precursors include bio-based amino acids, bio-based lactams, bio-based diprotic acid and bio-based diamines. In this paper, we discussed the route of the precursors of bio-based polyamides that come from bio-based materials. We discussed the properties of bio-based polyamides. Bio-based PA11and bio-based PA1010 are well-known bio-based polyamides; we discussed the origin materials of the precursors, the route of manufacturing bio-based PA11 and PA1010, and their modifications status. The variety, classification and commercial production of bio-based polyamides were described in details, as well as bio-based polyamides development in China.

Construction and identification of recombinant RBL-2 H3 cells transfected with hFcεRIα / 中国药理学通报

Aim To construct the stable hFcεRIα/RBL-2H3 cell line expressing human FcεRIα( hFcεRIα) . Methods The human FcεRIα gene was obtained by RT-PCR and cloned into the eukaryotic expression vector pCI-neo. Then, the pCI-neo-hFcεRIα vector was transfected into RBL-2H3 cells by lipo-somes, and the transfected cells were screened through G418 fil-tration subsequently. Finally, RT-PCR, Western blot and immu-nofluorescence assay were used to determine the result of trans-fection. Results According to the optimized transfection param-eters, the transfection efficiency reached 75. 38%. The results of Western blot, immunofluorescence and RT-PCR showed that hFcεRIα could be expressed in RBL-2H3 cells successfully. Conclusion HFcεRIα/RBL-2H3 cells were successfully con-structed,which will be the experimental basis for further study on the mechanism of IgE/FcεRI and drugs for allergy diseases.

Diagnostic value of GenoType? MTBDRsl assay for the resistance to fluoroquinolones anti-tuberculosis drugs:a Meta-analysis / 国际检验医学杂志

Objective To evaluate the diagnostic accuracy of GenoType? M TBDRsl for the resistance to fluoroquinolones anti‐tuberculosis drugs .Methods Systematic and comprehensive literature was searched in PubMed ,Embase ,Web of Science ,CBM , CNKI ,VIP and Wanfang database .The relative studies of GenoType? MTBDRsl to fluoroquinolones anti‐tuberculosis drugs were included .After quality assessment ,Meta‐Disc1 .4 software was used to analyze the data .Results A total of 16 trials ,involving 1 766 participants ,were included .The results of Meta‐analysis showed that the weighted sensitivity ,specificity ,positive likelihood ra‐tio ,negative likelihood ratio ,diagnostic odds ratio ,and the area under summary receiver operation curve were 0 .83 ,0 .96 ,17 .50 , 0 .20 ,108 .46 and 0 .934 9 ,respectively .Conclusion GenoType? M TBDRsl assay for the resistance to fluoroquinolones anti‐tuber‐culosis drugs might be with high sensitivity and specificity ,which could be recommended as efficacy diagnostic tool .

Clinical research for thulium laser vaporization enucleation of the prostate combined with traditional transurethral resection of prostate for therapy benign prostate hyperplasia larger than 80 millilitres / 中国医师进修杂志

Objective To evaluate the feasibility and the safety of thulium laser vaporization enucleation of prostate(TVEP) combined with traditional transurethral resection of prostate (TURP) for therapy benign prostate hyperplasia (BPH) with its volume larger than 80 millilitres.Methods Twenty-five BPH patients (volume larger than 80 millilitres) underwent TVEP combined with TURP.The operation time,intraoperative blood loss,enucleation time,cutting time,bladder irrigating time,catheterization time,perioperative and 6 months' follow-up data such as the international prostate symptom score,quality of life score,the maximum urinary flow rate,the residual urine volume and so on were observed.Results The operation time was (66 ± 26) min.The enucleation time was (25 ± 9) min.The cutting time was (32 ± 8) min.The intraoperative blood loss was (140 ± 25) ml.The bladder irrigation time was (3.0 ± 1.0) d.The catheterization time was (5.7 ± 1.0) d.After 6 months,the maximum urinary flow rate,residual urine volume,international prostate symptom score and quality of life score were improved:(18.7 ± 1.7) ml/s vs.(6.8 ± 1.7) ml/s,(18.9 ± 1.8) ml vs.(65.7 ±8.1) m1,(8.7 ± 1.6) scores vs.(25.7 ±4.3) scores,(1.7 ± 1.2) scores vs.(4.7 ± 1.1) scores,and there were significant differences (P ＜ 0.05).Urethral stricture developed in 2 patients and epididymitis happened in 3 patients.No blood transfusion events and transurethral electric cutting syndrome occurred.Conclusion TVEP combined with TURP for therapy BPH larger than 80 millilitres is safe,and the incidence of complications is low.

The Efficacy and Safety of 2μm Laser Vapoenucleation of the Prostate / 天津医药

Objective To evaluate the safety and effectiveness of 2μm Thulium laser vaporization enucleation (Thu-VEP) in the treatment of benign prostate hyperplasia (BPH). Methods A total of 145 patients with BPH were randomized into two groups including patients underwent ThuVEP and patients underwent standard transurethral resection of the pros-tate (TURP). The intraoperative blood loss,flushing fluid quantity,operation time,bladder irrigating time,catheterization time,the international prostate symptom score (IPSS),quality of life score (QOL),the maximum flow rate (Qmax),the post-void residual (PVR) and complications were observed in two groups. Results There were no significant differences in pa-tient age, preoperative duration, prostate weight, IPSS score,QOL score,Qmax and RUV between two groups. Patients in two groups were performed surgery successfully. The values of blood loss, bladder irrigating time and catheterization time were significantly less in ThuVEP group than those of TUEP group (P＜0.05). There were no postoperative complications in pa-tients of ThuVEP group. There were 5 cases of complications in TUEP group after operation. The values of IPSS score,QOL score,Qmax and RUV were significantly different after 3-12-month follow up than those before operation(P＜0.01),but no significant difference between two groups. Conclusion ThuVEP is a safe and more effective treatment than that of TURP for patients with BPH. ThuVEP can significantly improve the quality of life, and reduce complications in patients with BPH.

A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease / 中华医学杂志(英文版)

Type B Niemann-Pick disease is an autosomal recessive sphingolipidosis due to mutations in the sphingomyelin phosphodiesterase 1 gene (SMPD1). Here we present molecular findings for two sibling patients. One mutation V36A due to c.107T>C in exon 1 is a single nucleotide polymorphism and the other N522S due to c.1565 A>G in exon 6 is a novel missense mutation. This non-fatal missense mutation leads to –20% residual lysosomal acid sphingomyelinase activity in vitro and only results in hepatosplenomegaly without neurologic involvement.

Surface characteristics of thermally treated titanium surfaces

PURPOSE: The characteristics of oxidized titanium (Ti) surfaces varied according to treatment conditions such as duration time and temperature. Thermal oxidation can change Ti surface characteristics, which affect many cellular responses such as cell adhesion, proliferation, and differentiation. Thus, this study was conducted to evaluate the surface characteristics and cell response of thermally treated Ti surfaces. METHODS: The samples were divided into 4 groups. Control: machined smooth titanium (Ti-S) was untreated. Group I: Ti-S was treated in a furnace at 300degrees C for 30 minutes. Group II: Ti-S was treated at 500degrees C for 30 minutes. Group III: Ti-S was treated at 750degrees C for 30 minutes. A scanning electron microscope, atomic force microscope, and X-ray diffraction were used to assess surface characteristics and chemical composition. The water contact angle and surface energy were measured to assess physical properties. RESULTS: The titanium dioxide (TiO2) thickness increased as the treatment temperature increased. Additional peaks belonging to rutile TiO2 were only found in group III. The contact angle in group III was significantly lower than any of the other groups. The surface energy significantly increased as the treatment temperature increased, especially in group III. In the 3-(4,5-Dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide assay, after 24 hours of incubation, the assessment of cell viability showed that the optical density of the control had a higher tendency than any other group, but there was no significant difference. However, the alkaline phosphatase activity increased as the temperature increased, especially in group III. CONCLUSIONS: Consequently, the surface characteristics and biocompatibility increased as the temperature increased. This indicates that surface modification by thermal treatment could be another useful method for medical and dental implants.