Fragile X syndrome (FXS) is one of the most prevalent mental retardations. It is mainly caused by the loss of fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein and can regulate the translation of its binding RNA, thus regulate several signaling pathways. Many FXS patients show high susceptibility to epilepsy. Epilepsy is a chronic neurological disorder which is characterized by the recurrent appearance of spontaneous seizures due to neuronal hyperactivity in the brain. Both the abnormal activation of several signaling pathway and morphological abnormality that are caused by the loss of FMRP can lead to a high susceptibility to epilepsy. Combining with the research progresses on both FXS and epilepsy, we outlined the possible mechanisms of high susceptibility to epilepsy in FXS and tried to give a prospect on the future research on the mechanism of epilepsy that happened in other mental retardations.
Brain ; physiopathology ; Epilepsy ; etiology ; genetics ; pathology ; Fragile X Mental Retardation Protein ; genetics ; metabolism ; Fragile X Syndrome ; complications ; genetics ; Humans ; RNA-Binding Proteins ; metabolism

Adult ; Fatty Liver ; diagnosis ; diagnostic imaging ; Female ; Humans ; Male ; Pregnancy ; Pregnancy Complications ; diagnosis ; diagnostic imaging ; Ultrasonography ; Young Adult

Aim To study targeting capability of anti-CD19 (Fab)-LDMto CD19 +B lymphoma cells in vi-vo and in vitro.Methods Flow cytometry was em-ployed to determine the affinity of Cy5 labeled anti-CD19 (Fab)-LDP to human lymphoma Raji cells.And the optical imaging system was used to analyze the dis-tribution of Cy5-anti-CD19 (Fab )-LDP in lymphoma-transplanted xenograft nude mice in vivo.Results The results of flow cytometry demonstrated that Cy5-an-ti-CD19(Fab)-LDP had remarkable affinity with lym-phoma Raji cells;Raji lymphoma xenograft model was established successfully in nude mice and in vivo fluo-rescence imaging analysis indicated that the antibody-drug conjugates could specially be localized in the tar-get tumor.Conclusion The experiments in vivo and vitro confirm that anti-CD19 (Fab)-LDP has remarka-ble affinity to targeting CD19 +lymphoma cells,and the antibody drugs anti-CD19 (Fab )-LDP have the probability to be new drugs for the treatment of malig-nant lymphoma.

OBJECTIVETo present a variety of techniques for providing nasal lining and discuss the application of these methods to specific nasal defects.

METHODSRegard of the nasal defect's location, size, or depth of involvement, the approaches were used with turnover nasal skin or scar flaps (n=17), the buccal mucosal flap (n=1), the nasolabial flaps (n=5), prefabricated flaps (n=1) for lining. A formal nasal reconstruction was then carried out with use of rib cartilage grafts for support and a forehead flap for cover.

RESULTSNecrosis of forehead flaps and lining tissues did not occur. 24 Cases have been followed for a 6-34 months period. Except some turnover scar flaps obstructed the airway and needed aggressive secondary surgical thinning, the other lining flaps remained stable from adequate restoration of form and function.

CONCLUSIONSIt is important to evaluate the exact sizes, volumes and layers missing of the nasal defects before rebuilding the lining defect. Choosing the adequate operation can provide good aesthetic and functional results. The prefabricated flap is good to be used to reconstruct nasal lining in complicated cases.

Adolescent ; Adult ; Child ; Female ; Humans ; Male ; Middle Aged ; Nose ; surgery ; Rhinoplasty ; methods ; Skin Transplantation ; Surgical Flaps ; Young Adult

Objective To evaluate the clinical effect of anterograde and reverse digital artery island flap in treatment of wound repairing for fingertip defects.Methods From January 2015 to December 2016,there were 35 patients with fingertip defects underwent surgical treat-ment in our hospital,including 14 cases underwent surgery with anterograde digital artery island flap(anterograde group)and 21 cases under-went surgery with reverse digital artery island flap(reverse group).The anterograde group used proper palmar digital artery and nerve as the pedicle of flap,then took forward the finger pulp flap to the injured site.The reverse flap from the dorsal of one side of finger was harvested for coverage of the distal phalanx.Results All the flaps of the 35 cases were survived.In the anterograde group,reflux obstacle of vein appeared in 1 case,and it was cured with scarification procedures.In the reverse group,there were 3 cases of vascular crisis.After dressing release and partial remove of the stitching,2 cases of them return to normal.The other 1 case suffered from flap edge necrosis,and then the wound healed after dressing change.The operation time of anterograde group was(107.5 ±18.4)min and it was(139.5 ±18.0)min in the reverse group, which showed significant difference between the two groups(P<0.05).All the 35 cases were followed up for 6 to 12 months,with an average of 8.5 months.At the last follow-up,it showed that patients in both of the two groups had ruddy color,good texture and no significant bloated flap appearance.In the anterograde group,the sensory function of 12 patients restored to S4 and 2 patients restored to S3.Meanwhile,in re-verse group,5 patients restored to S3,12 patients restored to S2, and 4 patients restored to S1.The two-points discrimination of the antero-grade group was(4.22 ±0.67)mm,and it was(7.04 ±1.25)mm in the reverse group,which was significantly different(P<0.05).The in-terphalangeal joint motion was(102.67 ±7.35)°at the distal end and(64.46 ±8.37)°at the proximal end in anterograde group.And it was (100.64 ±10.29)°and(60.81 ±10.80)°respectively in the reverse group,with no significant difference between the two groups (P>0.05).The excellent and good rate was 92.8%in the anterograde group and 80.9%in the reverse group by the criteria for functional evaluation,and there was no statistically significant difference(P>0.05).Conclusion For fingertip defects(IshikawaⅠ~Ⅲ)treated by anterograde digital artery island flap or reverse digital artery island flap both can obtained good clinical efficacy.But it has shorter operation time and better sensory recovery with anterograde digital artery island flap repairing.

OBJECT: To study sequence polymorphism of mtDNA control region in Chinese Qinghai Tibetan group and Han population. METHODS: Venous blood samples from 69 unrelated Qinghai Tibetans and Han individuals were collected and their mtDNA control region sequences were analyzed. Polymorphism indicators were calculated. The genetic distances based on Fst and Rst among eleven groups from different districts include the Qinghai Tibetan and Han population were elucidated using Nei's method. Phylogenetic tree was constructed. RESULTS: There were 56 polymorphic loci and 59 loci found in the mtDNA control region of Tibetan group and Han population, respectively. It was indicated by the Rst distance that there was a far distance between Qinghai Tibetan and the other populations (P<0.05), and the distance was much closer between Qinghai Han and Xi'an Han, Mongolian, Changsha Han populations (P>0.05). CONCLUSION There is unique genetic polymorphism of mtDNA control region both in Qinghai Tibetan and Han population. These findings may be useful in forensic identification, population genetic and migration studies.
Asian People/genetics* ; China/ethnology* ; DNA, Mitochondrial/genetics* ; Forensic Genetics ; Humans ; Phylogeny ; Polymorphism, Genetic ; Sequence Analysis, DNA ; Tibet

Objective: To compare the risk angle and safety angle of needling Yamen (GV 15) between the atlanto-axial dislocation (AAD) patients and healthy subjects. Methods: A total of 177 AAD patients diagnosed and treated at the Center of Upper Cervical Vertebra of Beijing China-Japan Friendship Hospital between January 2010 and January 2018 were included in the AAD group. Another 207 healthy subjects were included in the normal group. There were totally 191 males and 193 females. The MRI scan was performed for the cervical vertebrae to measure the risk angle and safety angle of acupuncture at Yamen (GV 15) on the sagittal image. Results: In the AAD group, the risk angle was (13.14±3.99)° and the relative safety angle was (10.31±3.23)° for the perpendicular needling, while the oblique needling risk angle was (9.09±3.09)° for the male; the risk angle was (12.12±2.74)° and the relative safety angle was (10.56±2.09)° for the perpendicular needling, while the oblique needling risk angle was (9.70±2.95)° for the female. In the normal group, the risk angle was (7.89±1.59)° and the relative safety angle was (10.21±3.55)° for the perpendicular needling, while the oblique needling risk angle was (16.07±1.77)° for the male; the risk angle was (6.93±1.45)° and the relative safety angle was (10.70±2.94)° for the perpendicular needling, while the oblique needling risk angle was (14.89±2.18)° for the female. The perpendicular needling risk angles for the males and females in the AAD group were larger than those in the normal group, and the differences were statistically significant (bothP<0.01); for the inner-group comparison, there was no significant difference in the perpendicular needling risk angle between the male and the female in the AAD group (P>0.05); however, the perpendicular needling risk angle for the male was larger than the female, and the difference was statistically significant in the normal group (P<0.01). There were no significant differences in the relative safety angle for both the male and the female between the AAD group and the normal group (bothP>0.05). For the inner-group comparison, there was no significant difference in the relative safety angle between the male and the female (P>0.05). The oblique needling risk angles for both the males and females were smaller in the AAD group than those in the normal group, and the differences were statistically significant (bothP<0.01); the oblique needling risk angle for the male was not significantly different from that for the female in the AAD group (P>0.05); in the normal group, the oblique needling risk angle for the male was larger than that for the female, and the difference was statistically significant (P<0.01). Conclusion: Under the AAD condition, the risk angle and safety angle of acupuncture at Yamen (GV 15) change significantly, perpendicular needling should be better if performed slightly lower than the horizontal direction, and the oblique needling should be safer across the occipital foramen toward the occipital bone.

Objective:To evaluate the safety and efficiency of China-made Toumai Robot-assisted laparoscopic radical prosta-tectomy(LRP).Methods:This study included 40 cases of PCa treated from January 2023 to May 2023 by robot-assisted LRP with preservation of the bladder neck and maximal functional urethral length,15 cases with the assistance of Toumai Robot(the TMR group)and the other 25 with the assistance of da Vinci Robot as controls(the DVR group).We recorded the docking time,laparo-scopic surgery time,vesico-urethral anastomosis time,intraoperative blood loss and postoperative urinary continence,and compared them between the two groups.Results:Operations were successfully completed in all the cases.No statistically significant differ-ences were observed between the TMR and DVR groups in the docking time(6 min vs 5 min,P＞0.05)or intraoperative blood loss(200 ml vs 150 ml,P＞0.05).The TMR group,compared with the DVR group,showed a significantly longer median laparoscopic surgery time(146 min vs 130 min,P＜0.05)and median vesico-urethral anastomosis time(19 min vs 16 min,P＜0.05).There were no statistically significant differences between the TMR and DVR groups in the rates of urinary continence recovery immediately af-ter surgery(60.0％[9/15]vs 64.0％[16/25],P＞0.05)or at 1 month(80.0％[12/15])vs(76.0％[19/25],P＞0.05),3 months(93.3％[14/15])vs(92.0％[23/25],P＞0.05)and 6 months postoperatively(100％[15/15])vs(96％[24/25],P＞0.05).Conclusion:China-made Toumai? Robot surgical system is safe and reliable for laparoscopic radical prosta-tectomy,with satisfactory postoperative recovery of urinary continence.

Objective:To explore the application of modified scrotoscopic surgery(MSS)in the treatment of testicular hydro-cele.Methods:We selected 45 cases of testicular hydrocele for this study,22 treated by traditional scrotoscopic surgery(TSS)and the other 23 by MSS,which was performed with a pin-shaped electrode bent inward at an angle of 60° instead of a circular electrode used in TSS.We recorded the general clinical data,operation time,incision length,intraoperative injury,incision infection,scrotal e-dema,postoperative hospital stay and postoperative Visual Analogue Scale(VAS)scores of the patients and compared them between the two groups.Results:There was no statistically significant difference in the general clinical data between the two groups(P＞0.05).Compared with the patients of the TSS group,those of the MSS group showed significantly shorter operative time([32.86±3.80]vs[26.13±2.81]min,P＜0.05),incision length([14.09±2.23]vs[8.73±1.48]mm,P＜0.05)and postopera-tive hospital stay([4.36±1.05]vs[2.00±0.90]d,P＜0.05),and achieved remarkably lower VAS scores on postoperative days 1(4.41±1.05 vs 3.09±0.79,P＜0.05),2(3.36±1.05 vs 2.78±1.13,P＜0.05),3(2.65±0.72 vs 1.74±0.86,P＜0.05)and 7(1.91±0.81 vs 1.04±0.82,P＜0.05).At 3 and 7 days after surgery,scrotal edema was markedly mil-der in the MSS than in the TSS group(P＜0.05).No testicular or epididymal damage,or wound infection occurred in either of the two groups.Conclusion:MSS is safe and effective in the treatment of testicular hydrocele,superior to TSS for its advantages of shorter operation time,smaller surgical incision,less postoperative pain and milder scrotal edema.

OBJECTIVETo detect over-expression of AChR-gamma mRNA in rhabdomyosarcoma tissues by duplex RT-PCR and discuss its potential in diagnosis of rhabdomyosarcoma.

METHODSDuplex RT-PCR was applied to the simultaneous detection of AChR-alpha and gamma subunit messenger RNA in 17 cases of rhabdomyosarcoma (9 ERMS, 6 ARMS, 2 PRMS). 20 cases of non-rhabdomyosarcomous small round cell tumors (6 poorly differentiated synovial sarcomas, 6 ES/PNET, 6 lymphomas, 2 neuroblastomas) and three normal muscle samples were also detected for AChR-alpha and gamma mRNA by the same method.

RESULTSAChR-alpha and AChR-gamma mRNA were expressed in all the cases of rhabdomyosarcoma. The rate of quantity in both transcripts was AChR-gamma/AChR-alpha >or= 1, but the rate for three normal muscle samples was < 1. Cases of non-rhabdomyosarcomous small round cell tumors were all negative for AChR-gamma.

CONCLUSIONAChR-gamma mRNA expression detected by molecular genetic methods is useful in diagnosis and differential diagnosis of rhabdomyosarcoma.

Diagnosis, Differential ; Humans ; Protein Subunits ; RNA, Messenger ; analysis ; Receptors, Cholinergic ; genetics ; Receptors, Nicotinic ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Rhabdomyosarcoma ; diagnosis