Objective To explore the peak moment characteristics of lower limb joints,as well as the contribution rate and compensation mechanism of lower limb joints when older adults with a history of falls cross obstacles at different paces.Methods Thirty healthy older adults and 30 eldely fallers were recruited.The Qualisys infrared high-speed motion capture system and the Kistler three-dimensional force platform were used to collect the biomechanical data of the older adults when they crossed an obstacle with a height of 15％of their height at three walking speeds(1.05,1.41,1.74 m/s).The data were then modeled and analyzed using Visual 3D software.Results As walking speed increased,the peak knee extension moment,peak ankle plantar flexion moment,and double peak value of hip flexion moment in healthy group all increased significantly(P＜0.05).Compared with healthy group,the double peak values of hip flexion moment in faller group were significantly smaller than those in healthy group(P＜0.05).During walking at moderate speed,the contribution rate of the left hip joint in faller group was significantly higher than that of healthy group(P=0.025),while the contribution rate of the ankle joint was significantly lower(P=0.044).The margin of stability in the anterior-posterior direction at the moment of ground contact of the stance leg and the stride leg increased with walking speed(P=0.007,P=0.002).Conclusions Compared with healthy older adults,the elderly fallers have lower peak torque,peak ground reaction force,and dynamic stability in the anterior-posterior direction.As the walking speed increases,the mechanical parameters and the margin of stability of older adults increase significantly,and walking stability is improved.Compared with healthy older adults,elderly fallers usually rely more on the contribution of hip joint movements and reduce the involvement of ankle joints.It is recommended to incorporate fast walking exercises into the daily fall prevention exercise program for older adults,with combination of coordinated training of the hip,knee,and ankle joints.

Objective To explore the peak moment characteristics of lower limb joints,as well as the contribution rate and compensation mechanism of lower limb joints when older adults with a history of falls cross obstacles at different paces.Methods Thirty healthy older adults and 30 eldely fallers were recruited.The Qualisys infrared high-speed motion capture system and the Kistler three-dimensional force platform were used to collect the biomechanical data of the older adults when they crossed an obstacle with a height of 15％of their height at three walking speeds(1.05,1.41,1.74 m/s).The data were then modeled and analyzed using Visual 3D software.Results As walking speed increased,the peak knee extension moment,peak ankle plantar flexion moment,and double peak value of hip flexion moment in healthy group all increased significantly(P＜0.05).Compared with healthy group,the double peak values of hip flexion moment in faller group were significantly smaller than those in healthy group(P＜0.05).During walking at moderate speed,the contribution rate of the left hip joint in faller group was significantly higher than that of healthy group(P=0.025),while the contribution rate of the ankle joint was significantly lower(P=0.044).The margin of stability in the anterior-posterior direction at the moment of ground contact of the stance leg and the stride leg increased with walking speed(P=0.007,P=0.002).Conclusions Compared with healthy older adults,the elderly fallers have lower peak torque,peak ground reaction force,and dynamic stability in the anterior-posterior direction.As the walking speed increases,the mechanical parameters and the margin of stability of older adults increase significantly,and walking stability is improved.Compared with healthy older adults,elderly fallers usually rely more on the contribution of hip joint movements and reduce the involvement of ankle joints.It is recommended to incorporate fast walking exercises into the daily fall prevention exercise program for older adults,with combination of coordinated training of the hip,knee,and ankle joints.

Objective:To compare the clinical curative effects of saphenous artery flap and retrograde anterolateral femoral perforator flap in repairing full-thickness electric burn wounds deep to tendon and bone in the knee.Methods:This study was a retrospective observational study. From July 2018 to February 2022, 34 patients with full-thickness electric burn wounds deep to tendon and bone in the knee and conformed to the inclusion criteria were admitted to Zhengzhou First People's Hospital, including 26 males and 8 females, aged 18 to 54 years. According to the repair method of the electric burn wounds in the knee, the patients were divided into saphenous artery flap group (18 cases) repaired with saphenous artery flap and anterolateral femoral flap group (16 cases) repaired with retrograde anterolateral femoral perforator flap. The exposed area of bone and/or tendon after debridement was 5 cm×4 cm to 12 cm×7 cm, 5 patients were combined with open joint, and the resected area of the flap was 9 cm×6 cm to 25 cm×12 cm in saphenous artery flap group; the exposed area of bone and/or tendon after debridement was 7 cm×5 cm to 15 cm×7 cm, 6 patients were combined with open joint, and the resected area of the flap was 15 cm×10 cm to 39 cm×25 cm in anterolateral femoral flap group. According to the resected width of the flap, the wounds in the flap donor areas were repaired by direct suture or medium thickness skin graft in the trunk. The survival of the flap was observed after surgery. At the last follow-up, the color and texture of the flap were observed, and the two-point discrimination distance of the flap was detected. The sensory recovery of the flap was evaluated using the trial standards for evaluation of partial function of upper extremity by the Hand Surgery Society of Chinese Medical Association, and the excellent ratio of sensory recovery was calculated. The function of knee joint was assessed using the Knee Subjective Score Scale of International Knee Documentation Committee. The repairing effect of the flap was evaluated using comprehensive evaluation scale of flap, and the excellent ratio was calculated.Results:Most of the flaps in patients in the 2 groups survived well after surgery, only 2 patients in the anterolateral femoral flap group had distal flap necrosis of 3 to 5 cm 2, which healed after skin grafting or local suture. At the last follow-up of 12 to 18 months after surgery, the color and texture of the flap in patients in the two groups were similar to those of the skin tissue in the knee. The excellent ratio of sensory recovery of the flap was 18/18 in patients in saphenous artery flap group, which was significantly higher than 5/16 in anterolateral femoral flap group ( P<0.05). The two-point discrimination distance of the flap was (11.7±1.5) mm in patients in saphenous artery flap group, which was significantly shorter than (21.5±1.7) mm in anterolateral femoral flap group ( t=-1.84, P<0.05). The score of the knee joint function and the excellent ratio of the repairing effect of the flap had no statistically significant differences in patients in the two groups ( P>0.05). Conclusions:The full-thickness electric burn wounds deep to tendon and bone in the knee can be repaired with saphenous artery flap and retrograde anterolateral femoral perforator flap. After being repaired with those two types of flaps, the function of the knee joint recovers well, while the sensory recovery is better after being repaired by the saphenous artery flap.

Objective:To investigate the clinical application effect of bypass vein bridging in repairing high-voltage electric burn wounds on the head with free anterolateral thigh flaps.Methods:This study was a retrospective observational study. From May 2017 to December 2022, 8 patients with high-voltage electric burns on the head who met the inclusion criteria were admitted to Zhengzhou First People's Hospital, including 6 males and 2 females, aged 33 to 73 years. All patients had skull exposure, including 3 cases of large skull defect, 1 case of left eye necrosis, and 3 cases of cerebral hemorrhage. After debridement, the head wound area was from 13 cm×7 cm to 21 cm×15 cm, and the free anterolateral thigh flap with the area of 14 cm×8 cm to 22 cm×16 cm was cut for repair. The main descending branch of the lateral circumflex femoral artery carried by the flap was anastomosed end-to-end with the superficial temporal artery in the recipient area. One accompanying vein of the anastomotic artery of the flap was end-to-end anastomosed with the branch of the external jugular vein via great saphenous vein bridging, and the other accompanying vein was end-to-end anastomosed with the superficial temporal vein in the recipient area. The donor site wounds were directly sutured or closed with medium-thickness skin grafts from inner thigh. The blood supply and survival of the flap, and the wound healing on the head were observed after operation. The blood flow and lumen filling of the transplanted vein were observed and recorded by using color ultrasound diagnostic system within 2 weeks after operation. The wound repair method and wound healing of the flap donor site were recorded and observed. Patients were followed up to observe the appearance of the flaps and the flap donor sites, the muscle strength of the lower limbs where the flap donor site was located, and whether the patient could complete standing, walking, and squatting using the lower limbs where the flap donor site was located.Results:The flaps of 8 patients survived after operation, and no arterial or venous crisis occurred. The wounds of 5 patients on the head healed after operation, and the wounds of 3 patients on the head healed after second debridement 21 to 35 days after operation due to exudates under the flap 2 weeks after operation. Within 2 weeks after operation, the grafted vein continued to be unobstructed. After the ultrasound probe was pressurized, the grafted vein could be deflated, and the blood vessels were rapidly filled after the probe was released. The wounds of flap donor sites of 3 patients were directly sutured and healed 2 weeks after operation. The wounds of flap donor sites of 5 patients were closed with medium-thickness skin grafts from inner thigh, and all the skin grafts survived 12 days after operation. During follow-up of 6 to 12 months, the head flaps of all patients were slightly bloated without hair growth. Mild linear or patchy scar hyperplasia was left in the donor site. The muscle strength of the lower limbs where the flap donor site was located was normal and did not decrease. The patients could stand, walk, and squat with the lower limbs where the flap donor site was located.Conclusions:When using the free anterolateral thigh flap to repair high-voltage electric burn wounds of various areas and depths on the head, bypass vein bridging can reduce the occurrence of postoperative flap vein crisis and improve the quality of postoperative wound healing without affecting the function of the lower limbs where the flap donor site is located.

Objective:To compare the clinical curative effects of saphenous artery flap and retrograde anterolateral femoral perforator flap in repairing full-thickness electric burn wounds deep to tendon and bone in the knee.Methods:This study was a retrospective observational study. From July 2018 to February 2022, 34 patients with full-thickness electric burn wounds deep to tendon and bone in the knee and conformed to the inclusion criteria were admitted to Zhengzhou First People's Hospital, including 26 males and 8 females, aged 18 to 54 years. According to the repair method of the electric burn wounds in the knee, the patients were divided into saphenous artery flap group (18 cases) repaired with saphenous artery flap and anterolateral femoral flap group (16 cases) repaired with retrograde anterolateral femoral perforator flap. The exposed area of bone and/or tendon after debridement was 5 cm×4 cm to 12 cm×7 cm, 5 patients were combined with open joint, and the resected area of the flap was 9 cm×6 cm to 25 cm×12 cm in saphenous artery flap group; the exposed area of bone and/or tendon after debridement was 7 cm×5 cm to 15 cm×7 cm, 6 patients were combined with open joint, and the resected area of the flap was 15 cm×10 cm to 39 cm×25 cm in anterolateral femoral flap group. According to the resected width of the flap, the wounds in the flap donor areas were repaired by direct suture or medium thickness skin graft in the trunk. The survival of the flap was observed after surgery. At the last follow-up, the color and texture of the flap were observed, and the two-point discrimination distance of the flap was detected. The sensory recovery of the flap was evaluated using the trial standards for evaluation of partial function of upper extremity by the Hand Surgery Society of Chinese Medical Association, and the excellent ratio of sensory recovery was calculated. The function of knee joint was assessed using the Knee Subjective Score Scale of International Knee Documentation Committee. The repairing effect of the flap was evaluated using comprehensive evaluation scale of flap, and the excellent ratio was calculated.Results:Most of the flaps in patients in the 2 groups survived well after surgery, only 2 patients in the anterolateral femoral flap group had distal flap necrosis of 3 to 5 cm 2, which healed after skin grafting or local suture. At the last follow-up of 12 to 18 months after surgery, the color and texture of the flap in patients in the two groups were similar to those of the skin tissue in the knee. The excellent ratio of sensory recovery of the flap was 18/18 in patients in saphenous artery flap group, which was significantly higher than 5/16 in anterolateral femoral flap group ( P<0.05). The two-point discrimination distance of the flap was (11.7±1.5) mm in patients in saphenous artery flap group, which was significantly shorter than (21.5±1.7) mm in anterolateral femoral flap group ( t=-1.84, P<0.05). The score of the knee joint function and the excellent ratio of the repairing effect of the flap had no statistically significant differences in patients in the two groups ( P>0.05). Conclusions:The full-thickness electric burn wounds deep to tendon and bone in the knee can be repaired with saphenous artery flap and retrograde anterolateral femoral perforator flap. After being repaired with those two types of flaps, the function of the knee joint recovers well, while the sensory recovery is better after being repaired by the saphenous artery flap.

Objective To investigate the clinical and biochemical metabolic features of 12 patients with systemic primary carnitine deficiency(CDSP) and to identify the SLC22A5 gene mutation types of the disease. Method The clinical and biochemical data were collected by retrospective analysis. DNA direct sequencing and multiplex ligation dependent probe amplification(MLPA)were applied for SLC22A5 gene analysis. Result Among 12 patients with CDSP, 3 cases had evident infection factors, 6 cases with convulsions, 5 cases manifested liver hypertrophy, 8 cases with hyperammonemia, and 9 cases showed myocardial damage. All CDSP patients were detected biallelic pathogenic mutation in SLC22A5 gene by direct sequencing. The gene types include IVS2+1G>T, c.3G>T(p.Met1Ile), c.760C>T(p.Arg254X), c.1400C>G(p.Ser467Cys), c.844dupc(p.Arg282fs), c.338G>A(p.Cys113Tyr), c.51C>G(p.Phe17Leu), c.659A>T(p.Glu220Val), and c.1365dupC(p.Thr456fs). c.659A>T(p.Glu220Val) and c.1365dupC(p.Thr456fs)are novel mutations. One female patient was maternal CDSP, her child had abnormal newborn screening. The allele frequency of c.760C>T(p.Arg254X) and c.1400C>G(p.Ser467Cys) were 37.5%(9/24)and 29.2%(7/24)respectively. The MLPA test results of all patients were negative. Conclusion The clinical manifestations are complex and various in patients with CDSP. Point and small InDel(insertions/deletions)mutation constitute the major alteration in SLC22A5 gene. c.1400C>G(p.Ser467Cys) might be another prevalence mutation type in Chinese CDSP patient.

OBJECTIVETo investigate the clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency (BKTD).

METHODSClinical features and laboratory test data were collected. The probands were monozygotic twin brothers. Genomic DNA was isolated from peripheral blood leukocytes obtained from the probands and their family members. Molecular genetic testing of the ACAT1 gene was carried out.

RESULTSThe probands have presented with fever, vomiting and severe ketoacidosis. By arterial blood gas testing, pH was determined to be 7.164, bicarbonate was 4.0 mmol/L, and urine ketone was ++++. Urinary organic acid gas chromatography-mass spectrometry analysis showed excessive excretion of 3-hydroxybutyric acid, 2-methyl-3-hydroxybutyric acid and tiglylglycine. Increased 3-hydroxybutyrylcarnitine (C4-OH), tiglylcarnitine(C5:1) and 3-hydroxyisovalerylcarnitine (C5-OH) levels. The clinical phenotype of proband's parents were both normal, but an elder sister turned out to be an affected patient. Genetic analysis has identified two heterozygous mutations [c.622C>T(p.R208X) and c.653C>T (p.S218F)] in the proband, which were respectively detected in the mother and father. The c.653C>T (p.S218F) mutation was not found among the 100 healthy controls and has not been included in the Human Gene Mutation Database(HGMD).

CONCLUSIONThe primary clinical manifestations of BKTD is ketoacidosis. Urine organic acid and blood acylcarnitine analyses play an important role in the diagnosis of the disease. The compound heterozygous of ACAT1 gene mutations probably underlie the BKTD in our patient.

Acetyl-CoA C-Acetyltransferase ; genetics ; Acetyl-CoA C-Acyltransferase ; deficiency ; genetics ; Amino Acid Metabolism, Inborn Errors ; genetics ; Computational Biology ; Female ; Humans ; Infant ; Male ; Mutation ; Phenotype

OBJECTIVETo explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria.

METHODSExons of 3 candidate genes, including L2HGDH, D2HGDH and SLC25A1, were amplified with polymerase chain reaction and subjected to direct sequencing.

RESULTSDNA sequencing has found that the proband and his affected younger brother have both carried a heterozygous mutation c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene. The same mutation was not detected in the his sister who was healthy. Pedigree analysis has confirmed that the above mutation was inherited from the mother. No mutation was detected in exons and flanking sequences of the D2HGDH and SLC25A1 genes.

CONCLUSIONMutation of the L2HGDH gene probably underlies the 2-hydroxyglutaric aciduria in this family.

Alcohol Oxidoreductases ; genetics ; Base Sequence ; Brain ; diagnostic imaging ; Brain Diseases, Metabolic, Inborn ; diagnostic imaging ; enzymology ; genetics ; Child ; Female ; Humans ; Male ; Molecular Sequence Data ; Mutation ; Pedigree ; Radiography ; Young Adult

OBJECTIVETo analyze the clinical features and mutation of MUT gene in a Chinese patient with isolated methylmalonic acidemia.

METHODSThe clinical characteristics and laboratory tests data were collected. Genomic DNA was extracted from peripheral blood leukocytes. The 13 exons and their flanking sequences of the MUT gene were amplified with polymerase chain reaction and subjected to direct DNA sequencing.

RESULTSThe patient has featured failure to thrive, lethargy, seizure, hypotonia, severe ketoacidosis and hyperammonemia. Tandem mass results showed reduction of multiple acylcarnitine. Urine organic acid testing showed pronounced increase in methylmalonate excretion. Homocysteine was normal. The patient showed no response to vitamin B12 treatment. The above results suggested that the patient had isolated methylmalonic acidemia. DNA sequencing analysis confirmed that the patient has carried two MUT gene mutations, c.755dupA and a novel mutation c.944dupT.

CONCLUSIONInherited metabolic disease screening plays an important role in the diagnosis of clinical diseases. However, to confirm the results will need gene mutation analysis.

Amino Acid Metabolism, Inborn Errors ; enzymology ; genetics ; Base Sequence ; Female ; Humans ; Infant, Newborn ; Methylmalonyl-CoA Mutase ; genetics ; Molecular Sequence Data ; Mutation

OBJECTIVETo analyze PCCA and PCCB gene mutations in 10 Chinese patients with propionic acidemia(PA).

METHODSGenomic DNA was extracted from peripheral blood leukocytes. The 39 exons and flanking sequences of the PCCA and PCCB genes were amplified with polymerase chain reaction and subjected to direct DNA sequencing.

RESULTSDNA sequencing has revealed that 7 patients have carried a PCCA gene mutation, 2 patients carried PCCB gene mutation and 1 patient carried mutations in both PCCA and PCCB genes. Ten PA mutations were confirmed, including 8 affecting the PCCA gene and 2 affecting the PCCB gene. Three PCCA mutations c.245G>A, IVS15+5del5, c.1288C>T and 2 PCCB mutations c.838insC, c.1087T>C were found for the first time.

CONCLUSIONAmong Chinese patients with propionic acidemia patients, their genetic mutations are mainly found on the PCCA gene.

Child, Preschool ; Female ; Humans ; Infant ; Male ; Methylmalonyl-CoA Decarboxylase ; genetics ; Mutation ; Propionic Acidemia ; genetics