Objective:To explore the clinical and genetic characteristics of four children with Kabuki syndrome (KS) due to variants of KMT2D gene. Methods:Four children with KS diagnosed at the Children′s Hospital of Shanxi Province between January 2020 and December 2022 were selected as the study subjects. Whole exome sequencing was carried out for the children and their family members. Candidate variants were verified by Sanger sequencing and pathogenicity analysis.Results:The KS phenotype scores for the four children were 7, 8, 6, and 6, respectively. Child 2 also presented with a rare solitary kidney malformation. Genetic testing revealed that all children had harbored novel de novo variants of the KMT2D gene, including c. 16472_16473del, c. 858dup, c. 11899C>T, and c. 12844C>T, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), all of the variants were classified as pathogenic. Conclusion:For children showing phenotypes such as distinctive facial features, intellectual disability, developmental delay, cardiac abnormalities, and urinary system anomalies, KS should be considered. Early diagnosis and intervention can be achieved through genetic testing, especially in the presence of KMT2D gene mutations.

Objective:To investigate the efficacy of 3D-printed quantitative bone implants assisting second-stage Masquelet technique for the treatment of long-segment bone defect following Gustilo type IIIB and IIIC tibial fractures.Methods:A retrospective case series analysis was made on 26 patients with long-segment bone defect following Gustilo type IIIB and IIIC tibial fractures treated in Wuxi Ninth People′s Hospital from July 2015 to December 2020, including 20 males and 6 females; aged 19-63 years [(46.5±4.5)years]. Gustilo classification was type IIIB in 23 patients and type IIIC in 3. In the first stage, all patients had thoroughly emergent debridement, removal of all free bone pieces, restoration of the length and force line plus externally fixion, and vacuum sealing drainage (VSD) of the residual wound. After 2-7 days, the external fixation was removed and replaced by internal fixation, with the bone cement filling in the defect area and the free flap covering the wound. The length of tibial bone defect was 5-14 cm [(6.3±0.4)cm], and the tibial defect volume was 12.2-73.1 cm 3 [(33.6±9.2)cm 3]. In the second stage (6-19 weeks after injury), the bone cement was removed, followed by autologous bone grafting. Prior to bone grafting, digital technology was used to accurately calculate the bone defect volume, and an equal volume of bone harvesting area was designe to produce the 3D printed osteotomy template. Bone grafting was conducted after bone removal according to the osteotomy template during operation. The success rate of one-time iliac bone extraction, bone harvesting time, and bleeding volume were recorded. Pain in the bone extraction area was evaluated by visual analogue score (VAS) at 1 day and 1 month after operation and at the last follow-up. Wound healing, complications, and bone healing were observed. Life quality was evaluated by health survey brief form (SF-36) including scores of physical component summary (PCS) and mental component summary (MCS) before bone grafting and at the last follow-up. Results:All the patients were followed up for 13-53 months [(32.3±12.5)months]. One-time iliac bone extraction was successful in all the patients. Bone harvesting time was 15-30 minutes [(21.0±2.5)minutes]. The bleeding volume was 50-120 ml [(62.3±29.0)ml]. The VAS was 1-4 points [(1.2±0.9)points] at 1 day after operation, higher than these (0.0±0.0)points at 1 month after operation and at the last follow-up (all P<0.01). Totally, 25 patients obtained wound healing after operation, except for 1 patient with superficial wound infection after bone grafting that was healed by dressing change. There was 1 patient with bone infection after 3 months of bone grafting that was healed by repeated surgery with Masquelet technique in the first and second stage. Besides, 2 patients had symptoms of cutaneous nerve injury in the iliac donor area. The time of bone healing was 4-7 months [(5.8±0.8)months]. The scores of PCS and MCS in SF-36 at the last follow-up were (73.6±12.8)points and (83.6±13.2)points, significantly higher than those before bone grafting [(46.8±0.5)points, (60.7±2.0)points] (all P<0.01). Conclusion:Second-stage Masquelet technique with 3D printed quantitative bone implants for the treatment of long-segment bone defect following Gustilo type IIIB and IIIC tibial fractures is associated with shortened bone harvesting time, attenuated pain, reduced complications, accelerated bone healing and improved function.

Organic chemistry is an important foundation course for medicine, chemistry and other majors in universities and colleges. In this study, combined with the characteristics of pharmacy students in local colleges and universities, teachers introduced case teaching, enhanced curriculum connotation, and explored the integration of green chemistry concepts into the teaching process of organic chemistry, so as to cultivate pharmaceutical professionals with environmental protection concept and safety awareness. The practice shows that this teaching model not only improves students' attention to organic chemistry and learning efficiency, but also improves students' comprehensive quality.

Objective:To investigate the protective effect of lactoferrin(Lf) on lung injury in mice exposed to irradiation.Methods:C57BL/6 J mice were randomly divided into control group, 15 Gy irradiation group (IR group) and lactoferrin combined 15 Gy irradiation group (Lf+ IR group), with 5 mice in each group. The mice in the Lf+ 15 Gy group drank lactoferrin solution (10 mg/ml) from 3 days before irradiation and contained the whole experiments. Then, single chest 15 Gyirradiation was performed both in the IR and Lf+ IR groups. The body weight and other characteristics were monitored during the experiment. The mice were killed at day 14 after irradiation. The lung histopathology was observed by HE staining. Serum inflammatory cytokine such as HMGB1, TNF-α, IL-1β and IL-6 was determined by ELISA method . The expression of inflammatory related protein in lung tissue including HMGB1, TLR4, MyD88 and NF-κB were performed by immune histochemistry and Western blot method.Results:Compared with the control group, lung weight was significantly increased ( t=3.20, P<0.05), pulmonary hyperemia and inflammatory cell infiltration was observed in the IR group. Exposure also significantly increased serum level of TNF-α[(291.80±5.49) vs.(332.25±22.18)pg/ml]( t=3.07, P<0.05), up-regulated the expression of inflammatory related protein in lung tissue ( t=4.04, 4.78, 3.77, 6.14, P<0.05). Lactoferrin intervention (Lf+ IR group) significantly decreased lung weight ( t=2.18, P<0.05), alleviated histopathologic changes, decrease serum levels of HMGB1, TNF-α and IL-1β ( t=4.67, 2.97, 3.49, P<0.05). On the other hand, lactoferrin intervention decreased the positive cell number of HMGB1 and NF-κB, and down-regulated the protein expression of HMGB1, TLR4, MyD88 and NF-κB in lung tissues, with significant difference with the IR group ( t=8.06, 9.80, 3.07, 5.56, P<0.05). Conclusions:Lactoferrin plays the protective effect of radiation-induced lung injury through the downregulation of inflammatory response, such as HMGB1/TLR4/MyD88/NF-κB signaling pathway.

Objective:To explore the advantages, disadvantages, and precautions of clinically applying four types of non-trunk vessels as recipient vessels in the free flap transplantation for repairing peri-knee wounds.Methods:A retrospective analysis of the clinical data was conducted of 23 patients (12 males and 11 females) with peri-knee skin and soft tissue defects who underwent free anterolateral thigh flaps or free latissimus dorsi flaps. The patients were admitted to the Department of Traumatic Orthopedics, Wuxi 9th People’s Hospital, from January 2015 to December 2019. The patients were aged 20-72 years (mean 41.9). The wound size with vital tissue exposure was 18.0 cm×5.0 cm-42.0 cm×9.0 cm. Preoperative color Doppler and computerized tomography angiography techniques were used to assist in positioning and to measure the recipient vessels (including the descending genicular vessel, descending branch of the lateral femoral circumflex vessel, the medial sural vessel, and the medial inferior genicular vessel) and blood vessels in the donor area (including descending branches of lateral femoral circumflex vessels and thoracic dorsal vessels). The caliber was measured and verified by a soft ruler with a scale intraoperative. The measured values of the caliber were recorded in the preoperative and intraoperative. The color and texture of the two flaps and the healing of the donor sites were observed postoperatively. The conformance ratio of preoperative and intraoperative measured values of vessels in the donor and recipient areas (except for the only case of the medial inferior genicular vessel) was compared. SPSS 26.0 software was used for data analysis. The measurement data were showed as Mean±SD, and the comparison results were analyzed by paired t-test. P<0.05 was considered statistically significant. Results:A total of 23 patients with skin and soft tissue defects around the knee were enrolled. The size of the tissue flap was 18.0 cm×5.0 cm-46.0 cm×9.0 cm. Twelve of 14 anterolateral thigh flaps anastomosed to the descending genicular vessel survived. The remaining two cases had a length of 6 cm and 4 cm necrosis at the distal flap, which was finally given skin-grafting and healed. One of the 12 survived flaps failed in limb salvage in Phase Ⅰ and was thus given flap reconstruction in Phase Ⅱ. Another case was given amputation due to serious infection of limbs, with incomplete ends of the survived flaps rotated and covered. In four cases anastomosed to the descending branch of the lateral circumflex femoral vessel, three anterolateral thigh flaps survived completely, and one distal latissimus dorsi flap had a length of 12 cm necrosis which was given debridement and Ilizarov bone transport for heal. Two anterolateral thigh flaps and two latissimus dorsi flaps anastomosed to the medial sural vessel survived completely, of which one anterolateral thigh flap had vein crisis which was later solved. The anterolateral thigh flap of 1 case anastomosed to medial inferior genicular vessels completely survived. The postoperative follow-up lasted 3-30 months with an average of 13.6 months. All the flaps have good color and textures with good incision heal at the donor site in Phase Ⅰ. There was no statistically significant difference in the preoperative and intraoperative measurement values of blood vessel caliber in the donor and recipient areas ( P>0.05). Conclusions:Four non-trunk peri-knee blood vessels can serve as recipient vessels of the free tissue flaps, and proper selection of the vessels can effectively improve the survival rate of the tissue flaps. The descending genicular vessel can serve as the recipient vessel for a priority, as with a superficial position, fixed dissection, simple positioning, and convenient intraoperative dissection.

Objective:To explore the advantages, disadvantages, and precautions of clinically applying four types of non-trunk vessels as recipient vessels in the free flap transplantation for repairing peri-knee wounds.Methods:A retrospective analysis of the clinical data was conducted of 23 patients (12 males and 11 females) with peri-knee skin and soft tissue defects who underwent free anterolateral thigh flaps or free latissimus dorsi flaps. The patients were admitted to the Department of Traumatic Orthopedics, Wuxi 9th People’s Hospital, from January 2015 to December 2019. The patients were aged 20-72 years (mean 41.9). The wound size with vital tissue exposure was 18.0 cm×5.0 cm-42.0 cm×9.0 cm. Preoperative color Doppler and computerized tomography angiography techniques were used to assist in positioning and to measure the recipient vessels (including the descending genicular vessel, descending branch of the lateral femoral circumflex vessel, the medial sural vessel, and the medial inferior genicular vessel) and blood vessels in the donor area (including descending branches of lateral femoral circumflex vessels and thoracic dorsal vessels). The caliber was measured and verified by a soft ruler with a scale intraoperative. The measured values of the caliber were recorded in the preoperative and intraoperative. The color and texture of the two flaps and the healing of the donor sites were observed postoperatively. The conformance ratio of preoperative and intraoperative measured values of vessels in the donor and recipient areas (except for the only case of the medial inferior genicular vessel) was compared. SPSS 26.0 software was used for data analysis. The measurement data were showed as Mean±SD, and the comparison results were analyzed by paired t-test. P<0.05 was considered statistically significant. Results:A total of 23 patients with skin and soft tissue defects around the knee were enrolled. The size of the tissue flap was 18.0 cm×5.0 cm-46.0 cm×9.0 cm. Twelve of 14 anterolateral thigh flaps anastomosed to the descending genicular vessel survived. The remaining two cases had a length of 6 cm and 4 cm necrosis at the distal flap, which was finally given skin-grafting and healed. One of the 12 survived flaps failed in limb salvage in Phase Ⅰ and was thus given flap reconstruction in Phase Ⅱ. Another case was given amputation due to serious infection of limbs, with incomplete ends of the survived flaps rotated and covered. In four cases anastomosed to the descending branch of the lateral circumflex femoral vessel, three anterolateral thigh flaps survived completely, and one distal latissimus dorsi flap had a length of 12 cm necrosis which was given debridement and Ilizarov bone transport for heal. Two anterolateral thigh flaps and two latissimus dorsi flaps anastomosed to the medial sural vessel survived completely, of which one anterolateral thigh flap had vein crisis which was later solved. The anterolateral thigh flap of 1 case anastomosed to medial inferior genicular vessels completely survived. The postoperative follow-up lasted 3-30 months with an average of 13.6 months. All the flaps have good color and textures with good incision heal at the donor site in Phase Ⅰ. There was no statistically significant difference in the preoperative and intraoperative measurement values of blood vessel caliber in the donor and recipient areas ( P>0.05). Conclusions:Four non-trunk peri-knee blood vessels can serve as recipient vessels of the free tissue flaps, and proper selection of the vessels can effectively improve the survival rate of the tissue flaps. The descending genicular vessel can serve as the recipient vessel for a priority, as with a superficial position, fixed dissection, simple positioning, and convenient intraoperative dissection.

Objective To discuss the feasibility and the curative effect of transurethral diverticulum section in the treatment of female urethral diverticulum.Method We retrospectively analyzed the transurethral diverticulum section surgeries of 11 adult female patients diagnosed as urethral diverticulum in our hospital from August 2012 to October 2016.The patients aged from 33 years old to 74 years old with an average age of 43.Their medical histories varied from 1 month to more than 40 years with an average histories of 80 months.Major symptoms included odynuria,frequent micturition,dyspareunia,perineum bearing-down feeling,repetitive urinary tract infection,dysuria,urinary stuttering,penis masses,etc.One patient underwent TVT-O.Two patients had urinary catheterization before the disease.During physical examination,cystic masses of different sizes could be touched on anterior vaginal walls with pain and secretion.Cystic lesions can be found by imaging examination.Transurethral diverticulum section was performed under general anesthesia.Using needle electrode by resectoscope,we made an annular incision in the direction of the vertical axis of the urethra,from the beginning of diverticulum ostium.The diverticulum completely communicated with the urethra.In 11 patients of transurethral endoscopic,the urethral sphincter and the diverticulum wall appeared morphological integrity and no damage.There was no liquid drained to de vagina.There was no urethral sphincter injury and no urethral vaginal leakage.We observed the operation time,bleeding volume,diverticulum position,the number of diverticulum,urethral sphincter intraoperative.We also observed the postoperative symptoms,short-term and long-term complications.Result All surgeries went on well,in which urethral diverticula were fully opened.The operation time was 30-45 minutes,average 35 minutes.The amount of bleeding within 5 ml.4 cases with multiple diverticulum,with 2 cases of diverticulum ostia were 2,2 cases of diverticulum ostia were 3.The other 7 cases with single diverticulum,diverticulum ostium was 1.The catheters were removed 2 weeks after the surgery,after that all patients can urinate normally.The follow-up time was 5-55 months (mean,24 months).All pre-surgical symptoms disappeared and no complication occurred,such as urethral stricture,urinary incontinence,urethro-vaginal fistula,etc.Conclusion Transurethral diverticulum section is a reliable treatment for female urethral diverticulum with positive curative effect and no obvious complication.

Objective To investigate the effect of glucose supplement on AMPK activation in myocardium of exercised rats by measuring the myocardial AMPK activation and glycogen content after acute exercise training.Methods Rats were subjected to an acute endurance exercise and glucose supplement in varying doses and time points before and after exercise.The dynamic changes of myocardial AMPK activities was measured with Western blotting, changes of myocardial glycogen content were measured with Anthrone method.Results AMPK activation in myocardium of exercised rat was increased significantly throughout the exercise, and remained at a higher level 1 hour after acute exercise.However the level of AMPK activity was not significantly increased in exercised rat with glucose supplement.Glycogen content was not significantly changed after exercise.Rats subjected to lower dose glucose supplement did not show significant changes in glycogen content neither.But glycogen content was significantly increased in rats at 24 hours after exercise, subjected to higher dose of glucose supplement.Conclusions 1) Acute exercise induces a significant increase in AMPK activation in myocardium of exercised rats.Glucose supplement significantly inhibites the activation of AMPK induced by acute exercise.(2) Higher dose glucose supplement significantly increases glycogen content in the rat myocardium 24 h after exercise.

Objective To investigate the status and clinical and epidemiological characteristics of human metapneumovirus (hMPV) and human bocavirus (HBoV) infections in children with acute respiratory tract infections (ARTIs) in Taiyuan. Methods A total of 549 children with ARTIs from November 2012 to May 2013 and November 2013 to May 2014 were recruited. The pharyngeal swab specimens were collected. The hMPV and HBoV were detected by using real-time PCR. Results In 549 children, 56 children (10.2%) were hMPV positive on swab specimens, 15 children (2.7%) were HBoV positive on swab specimens. The detection rates of hMPV and HBoV in November 2012 to May 2013 were 12.3%and 2.0%, respectively, and in November 2013 to May 2014 were 6.5%and 4.0%, respectively. The detection rate of hMPV was signiifcantly different between two periods (P<0.05), while the detection rate of HBoV has no signiifcant difference between two periods. In different months, the detection rate of hMPV and HBoV showed no signiifcant difference. The highest detection rates of hMPV and HBoV were all in children younger than two years old. The highest detection rate of hMPV was in children with asthmatic bronchitis or bronchiolitis. Conclusion In Taiyuan, during the monitoring periods, the ARITS are associated with childhood hMPV and HBoV infection especially in infants and toddlers. hMPV is one of the most important pathogens in infants and toddlers with wheezing.

Artemisinin is the antidote to malaria, and has made hundreds of millions patients get rid of the disease since application in clinic. At present, the main accesses to artemisinin are directly extracted from Artemisia annua,chemical synthesis and biosynthesis. By comparing the differences of artemisinin production process between China and abroad, this research analyzes the reasons of the problem, and put forward their views and suggestions, so as to provide references for Artemisia annua further research.