Objective To explore the effects of VEGF/bFGF sustained release microspheres combined with hyperbaric oxygen therapy on survival rates of uhralong random pattern flaps in rats.Methods Modified McFarlane flap rat models were randomly divided into 4 groups,VEGF/bFGF microspheres + hyperbaric oxygen group,VEGF/bFGF microspheres group,hyperbaric oxygen group and control group.At the end of 7 days,survival rates of flaps were calculated (Survival rate =Survival area/total area × 100％).The tissue samples were taken from middle portion of flaps to detect the neovascularization.Immunohistochemistry was used to detect the differential expression of VEGF.Results Seven days after the random pattern flap operation in rats,the survival rates of VEGF/bFGF microspheres combined with hyperbaric oxygen therapy experimental group,VEGF/bFGF microspheres experimental group,hyperbaric oxygen therapy experimental group,and control group were (89.54 ± 3.23) ％,(73.54 ± 4.57) ％,(71.89 ± 2.26) ％,(50.36 ± 2.37) ％ respectively.The neovascularization counts of each group in part Ⅱ were (35.14 ± 4.21)/mm2,(23.34 ± 2.53)/mm2,(25.22 ±2.73)/mm2 and (17.37 ± 5.73)/mm2 respectively.VEGF cumulative absorbance in VEGF/bFGF microspheres + hyperbaric oxygen group,VEGF/bFGF microspheres group,hyperbaric oxygen group and control group were 78.39 ± 9.12,52.42 ± 13.59,49.84 ± 12.93,29.24 ± 10.35 respectively.In each experimental result group,there were significant difference between the combination group and the other groups (F =189.956,P ＜ 0.05),but there was no significant difference between VEGF/bFGF microspheres experimental group and hyperbaric oxygen therapy experimental group.Conclusion VEGF/bFGF sustained release microspheres combined with hyperbaric oxygen therapy can promote flap neovascularization,increase the flap blood supply and then improve the survival of random pattern skin flaps.

Objective To assess the utility of changes of muscle strength and compound muscle action potential (CMAP) of abductor digiti minimi (ADM) muscle after the exercise test in diagnosis of hypokalaemic periodic paralysis during inter-attack period. Methods Exercise test was applied on 59 patients with hypokalaemic periodic paralysis and 38 control subjects during inter-attack period. The changes of CMAP amplitude, muscle strength and the range of abduction of ADM muscle at 120 minutes after exercise were calculated and compared between the two groups. Results At 120 minutes after exercise, the M50 (M25, M75 ) of decrease in amplitude of CMAP recorded in ADM muscles were 54. 1% ( 43.1%,66. 3% ) in patients with periodic paralysis and 11.1% (2. 0%, 21.3% ) in control subjects(Z =6. 731,P=0.000), M5o(M25,M75) of decrease in range of abduction of ADM muscles were 39.4% (26.3% ,48. 9% ) in patients with periodic paralysis and 7. 8% ( 1.3%, 13.7% ) in control subjects ( Z = 5. 519,P=0. 000). The muscle strength of ADM muscle was less than Ⅳ grade in 96. 3% (52/54) patients with periodic paralysis and 8.6% ( 3/35 ) in control subjects ( x2 = 68.2, P = 0. 000 ). The sensitivity and specificity for decrease in CMAP amplitude ( best cutoff = 30% ) in diagnosis of hypokalaemic periodic paralysis were 87.5% and 93.7%, respectively. The sensitivity and specificity for decrease in range of abduction of ADM muscle ( best cutoff = 20% ) were 87.5% and 90. 5%, respectively. Conclusion Exercise test is recommended to apply on patients with suspected hypokalaemic periodic paralysis during inter-attack period. The decrease in range of abduction of ADM muscle more than 20% at 120 minutes after exercise supports the diagnosis of hypokalaemic periodic paralysis.

Objective To investigate the characteristics of F-waves in patients with Kennedy's disease.Methods Thirty two patients with Kennedy's disease and 30 male healthy volunteers,who visited the Department of Neurology,Peking Union Medical College Hospital between August 2013 and July 2014,were recruited consecutively for this study.Motor nerve conduction study and F-wave examination were performed on the median,ulnar,tibial and peroneal nerves of all participants.A series of 100 electrical stimuli were employed to obtain F-waves.The F-wave parameters in all tested nerves were compared between patients with Kennedy's disease and normal controls including F-wave minimum latency,F-wave persistence,mean and maximum F-wave amplitude,the frequency of giant F-waves.Results The mean Fwave amplitude (median nerve:patients with Kennedy's disease 375.0 (298.3) μV,healthy volunteers 297.0(145.0) μV,Z =-3.378,P ＜0.01;ulnar nerve:patients with Kennedy's disease 397.5(295.0) μV,healthy volunteers 293.0 (101.8) μV,Z =-3.968,P ＜ 0.01;tibial nerve:patients with Kennedy's disease 374.5 (227.3) μV,healthy volunteers 294.0 (160.5) μV,Z =-3.144,P =0.002;peroneal nerve:patients with Kennedy's disease 346.5 (292.8) μV,healthy volunteers 146.5 (69.3) μV,Z =-6.864,P ＜ 0.01),maximum F-wave amplitudes (median nerve:patients with Kennedy's disease 1 291.0 (952.0) μV,healthy volunteers 846.5 (523.0) μV,Z =-4.823,P ＜ 0.01;ulnar nerve:patients with Kennedy's disease 1 663.5 (1 374.0) μV,healthy volunteers 760.5 (341.8) μV,Z =-6.813,P ＜ 0.01;tibial nerve:patients with Kennedy's disease (1 054.1 ± 451.6) μV,healthy volunteers (652.5-± 172.5) μV,t =5.380,P ＜ 0.01;peroneal nerve:patients with Kennedy's disease (840.4 ± 494.1) μV,healthy volunteers (370.2 ± 202.0) μV,t =6.475,P ＜ 0.01),frequency of giant F-waves (median nerve:patients with Kennedy's disease 0.0％ (7.2％),healthy volunteers 0.0％ (0.0％),Z =-5.149,P ＜ 0.01;ulnar nerve:patients with Kennedy's disease 3.1％ (10.5％),healthy volunteers 0.0％ (0.0％),Z =-7.026,P ＜0.01;tibial nerve:patients with Kennedy's disease 0.0％ (3.3％),healthy volunteers 0.0％ (0.0％),Z =-4.651,P ＜0.01;peroneal nerve:patients with Kennedy's disease 3.3％ (28.2％),healthy volunteers 0.0％ (0.0％),Z =-5.532,P ＜0.01),and frequencies of patients with giant F-waves (median nerve:patients with Kennedy's disease 78.1％ (25/32),healthy volunteers 10.0％ (3/30),x2 =29.016,P ＜ 0.01;ulnar nerve:patients with Kennedy's disease 87.5％ (28/32),healthy volunteers 10.0％ (3/30),x2 =37.200,P ＜ 0.01;tibial nerve:patients with Kennedy's disease 62.5％ (20/32),healthy volunteers 6.7％ (2/30),x2 =21.085,P ＜ 0.01;peroneal nerve:patients with Kennedy's disease 68.8 ％ (22/32),healthy volunteers 10.0％ (3/30),x2 =22.209,P ＜ 0.01) in all nerves examined were significantly higher in patients with Kennedy's disease than in the normal controls.The F-wave persistence in all nerves examined was significantly lower than in the normal controls (median nerve:patients with Kennedy's disease 52.5％ (36.3％),healthy volunteers 98.0％ (7.0％),Z =9.010,P ＜ 0.01;ulnar nerve:patients with Kennedy's disease 71.0％ (28.3％),healthy volunteers 100.0％ (1.0％),Z =9.455,P ＜ 0.01;tibial nerve:patients with Kennedy's disease 100.0％ (2.0％),healthy volunteers 100.0％ (0.0％),Z =4.255,P ＜ 0.01;peroneal nerve:patients with Kennedy's disease 33.1％ ± 23.9％,healthy volunteers 46.9％ ± 27.2％,t =-2.848,P =0.007).Giant F-waves were detected in multiple nerves and often appeared symmetrically on the same nerves between the left and right sides in patients with Kennedy's disease.No significant correlations were found between the pooled frequency of giant F-waves and disease duration in patients with Kennedy's disease(r =0.162,P =0.418).Conclusions The results showed increased F-wave amplitudes,increased number of giant F-waves,especially giant F-waves detected in multiple nerves or appearing symmetrically combined with low persistence,consistent with the pathologic features of chronic and unselected loss of anterior horn cells in patients with Kennedy's disease.

0.9999 ( n =5). The recovery was 101.4% , RSD = 3.26% ( n =6).Conclusion:: The method is proved to be rapid, accurate and reproducible, and suitable for components determination for Shexiangzhitong Plaster.

Objective To investigate the characteristics of giant F-waves in patients with amyotrophic lateral sclerosis ( ALS ) and the relationship between giant F-waves and disease phenotype . Methods Motor nerve conduction study and F-waves were performed to the median , ulnar, tibial and peroneal nerves of 55 patients with ALS and 52 healthy volunteers.A series of 100 electrical stimuli were employed to obtain F-waves.The following F-wave variables were estimated: frequency of giant F-waves, frequency of patients with giant F-waves, the relationship between giant F-waves and lower motor neuron dysfunction , the relationship between giant F-waves and upper motor neuron dysfunction , the relationship between giant F-waves and disease duration , the relationship between giant F-waves and disease severity , and the relationship between giant F-waves and disease progression rate ( DPR).Results The frequencies of giant F-waves ( ALS: median nerve 0.00 ( 0.00 )%, ulnar nerve 0.00 ( 1.02 )%, tibial nerve 0.00 (0.00)%,peroneal nerve 0.00(0.00)%.Normal controls:median nerve 0.00(0.00)%,Z=-2.360, P=0.018;ulnar nerve 0.00(0.00)%,Z=-3.997,P<0.01;tibial nerve 0.00(0.00)%,Z=-3.006, P=0.003;peroneal nerve 0.00(0.00)%,Z=-3.006,P=0.003) and the frequencies of patients with giant F-waves (ALS:median nerve 13/55,23.6%,ulnar nerve 26/55,47.2%,tibial nerve 18/55,32.7%, peroneal nerve 16/55, 29.1%.Normal controls:median nerve 4/52,7.7%,χ2 =0.024,P=0.024;ulnar nerve 7/52,13.5%, χ2 =14.326,P<0.01; tibial nerve 6/52,11.5%, χ2 =6.897,P=0.009; peroneal nerve 6/52,11.5%,χ2 =5.042,P=0.025) in the median nerve, ulnar nerve, tibial nerve and peroneal nerve were significantly increased compared with those of the normal controls .No significant differences were found in the frequencies of upper motor neuron dysfunction between nerves with giant F -waves and nerves without giant F-waves in the median nerves , ulnar nerves , tibial nerves and peroneal nerves of ALS patients . The compound muscle action potential amplitude of nerves with giant F-waves was significantly higher than those of nerves without giant F-waves in the median nerves (11.20(5.80) mV vs 5.90(8.50) mV,t=2.883,P=0.004)and tibial nerves ((13.20 ±4.61) mV vs (10.69 ±4.76) mV,t=-2.222,P=0.028) of the ALS patients.No significant correlation was detected between the frequency of giant F-waves and disease duration or ALS functional rating scale in the ALS patients , while the frequency of giant F-waves correlated inversely with the DPR(r=-0.287,P=0.034).No significant differences were detected in disease duration between ALS patients with giant F-waves and those without giant F-waves.Compared with those in ALS patients without giant F-waves, the revised ALS Functional Rating Scale score (37.00(3.00) vs 42.00(4.75),Z=3.197,P=0.001) was more, the DPR (0.50(0.35)vs 0.90(0.43),Z=-3.033, P=0.002 ) was slower in ALS patients with giant F-waves. Conclusions The giant F-waves were significantly increased in the ALS patients than those in the healthy volunteers and were distributed asymmetrically between the left and right sides .These electrophysiological characteristics of ALS patients fitted well with progressive loss of anterior horn cells , and indicated differential involvement of different spinal motoneuron pools in the ALS patients .No correlations were found between the frequency of giant F-waves and disease duration .The appearance of giant F-waves may indicate loss of spinal motoneuron early in the disease course , and may suggest that the degree of reinnervation and functional compensation are relatively good after motoneuron loss .

Objective To explore the effects of small incision in situ release on surgical indications,nerve conduction velocity and upper limb function in patients with carpal tunnel syndrome(CTS).Methods A total of 100 CTS patients admitted to our hospital from January 2018 to January 2022 were selected,they were randomly divided into the control group(50 cases,treated with traditional carpal tunnel release)and the observation group(50 cases,treated with small incision in situ release),the clinical data of CTS patients were collected and surgical indications,nerve conduction velocity,upper limb function and the incidence of complications were compared between the two groups.Results The total effective rate was 98.00％in the observation group and 84.00％in the control group(P＜0.05).In the observation group,the length of incision was(1.65±0.29)cm,the time of opening and closing incision was(4.85±1.02)min,the hospitalization time was(3.24±0.62)d,the intraoperative blood loss was(17.88±3.53)mL,and the VAS score was(3.03±0.56)points one day after operation.The control group were(4.02±0.81)cm,(10.06±2.28)min,(7.11±1.34)d,(24.37±5.27)ml,(4.04± 0.89)points,the differences were statistically significant(P＜0.05).After treatment,The thumle-wrist sensory conduction velocity of CTS patients in the study group was(46.05±8.39)m/s,the middle finger-wrist sensory conduction velocity was(45.05±8.95)m/s,the thenar muscles-wrist motor conduction velocity was(53.94±11.47)m/s,the FIM ADL score was(34.38±7.22)points,and FMA The upper limb score was(34.23±7.25)points,and the control group was(41.86±8.22)m/s,(40.88±8.28)m/s,(49.05±10.01)m/s,(27.81±6.01)points,(41.05±9.19)points.The difference between the two groups was statistically significant(P＜0.05).The total incidence of complications was 4.00％in the observation group and 20.00％in the control group(P＜0.05).Conclusion Small incision in situ release is effective in the treatment of CTS patients,which can improve the surgical indications and nerve conduction velocity,help patients recover upper limb function,and reduce the incidence of postoperative complications.

Objective:To enhance the early recognition of Prader-Willi syndrome by summarizing the clinical characteristics of Prader-Willi syndrome (PWS) during perinatal period.Methods:Through a nationwide cross-sectional study in the Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences,226 children diagnosed as PWS by molecular genetics were recruited from September 2019 to March 2020. Clinical data including fetuses Age, birth weight, fetal movement, fetal position, amniotic fluid, mode of bith, crying, muscle tension, feeding, and cryptorchidism were collected to analyze the clinical characteristics of Chinese PWS patients in the perinatal period, and according to the mode of birty, birth weight and genotypes to perform subgroup analysis. The clinical manifestations of different subtypes were statistically analyzed by t test, χ 2 test or Mann-Whitney U test. Results:Among the 226 PWS patients, 120 were males, and 106 were females. Among them, 100 (44.2%) patients were small for gestational age. Decreased fetal movement was the most common manifestation 202 cases (89.4%) during pregnancy, and other manifestations included polyhydramnios 71 cases (31.4%) and abnormal fetal position 58 cases (25.7%). One hundred and eighty-five (81.9%) patients were delivered by cesarean section and the frequency of abnormal fetal position was significantly higher (30.8%(57/185) vs. 2.4%(1/41),χ2=14.161, P<0.01). As for abnormal manifestations after birth included hypotonia 221 cases (97.8%),220 cases (97.3%) showing weak crying, 116 cases among the total 120 males patients (96.7%) wanifested with cryptordnildism and 206 feeding difficulties (91.2%). In terms of genetic subtype, most of them (184/226, 81.4%) had a paternal deletion, while maternal age (35±5 vs. 29±5, t=-6.591, P<0.01) and the frequency of polyhydramnios (47.6% (20/42) vs. 27.7% (51/185), χ2=6.286, P=0.012) were significantly higher in the non-deletion group. Conclusions:The main manifestations of PWS patients during the perinatal period are hypotonia, weak crying, feeding difficulties, decreased fetal movement, cryptorchidism and those patients are more likely to be born by cesarean section. In newborns with these characteristics, pediatricians should be aware of the possibility of PWS. In terms of the relationship between genotypes and phenotypes, polyhydramnios is more frequently observed in the non-deletion group.

Objective:To summarize the clinical phenotype and genetic characteristics of deficiency in ELF4 gene X-linked (DEX).Methods:A case series study was conducted to retrospectively analyze the clinical data and genetic testing results of 2 cases of DEX treated at Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and the First Hospital of Jilin University from January 2023 to April 2024. And literature up to April 2024 was searched from the PubMed database, as well as CNKI and Wanfang databases, using keywords such as "ELF4 deficiency" "deficiency in ELF4, X-linked""ELF4 gene". The main clinical manifestations and genotypes of DEX were summarized.Results:Both patients were male, with onset ages of 3 months and 3 years, respectively. Both patients presented with recurrent oral ulcers and abdominal pain. And the laboratory examination showed a significant increase in inflammatory markers. Intestinal examinations showed multiple intestinal ulcers, and both patients developed intestinal fistulas. Whole exome sequencing found ELF4 c.799C>T, p Arg267Trp and ELF4 c. 248-7G>A, both maternal variants. Based on clinical and genetic results, DEX were diagnosed. In terms of treatment, both patients underwent surgical treatment during the acute phase of the disease and received anti-tumor necrosis factor α therapy, but recurrent gastrointestinal symptoms were still observed in Patient 1, while the clinical effect in Patient 2 was still acceptable. However, the inflammatory markers in both patients were not normal even after treatment. Literature review found 18 patients including 2 patients in this study, reported in 5 English articles and no Chinese reports. Thirteen patients had disease onset age before 5. The main clinical manifestations were fever (12/17), oral ulcers (14/18), abdominal pain (8/18), diarrhea (6/18), perianal ulcers (5/17), ileum ulcers (6/16), colon ulcers (7/16), skin involvement (7/17) and recurrent infections (7/18); laboratory examinations found increased erythrocyte sedimentation rate (13/15) as well as C-reactive protein (9/9), and anemia (13/15); in terms of immunological function, there is a decrease in natural killer cells (9/15) as well as a decrease in class switching memory B cells (8/9). The main types of gene variantions were missense variantions (6/18), nonsense variantions (4/18) or frameshift variantions (3/18).Conclusions:DEX should be considered when an early-onset male patient manifested with recurrent fever, oral ulcers or mucosal ulcers, with elevated inflammatory markers, with or without recurrent infection. It is recommended to perform lymphocyte subsets analysis, gastrointestinal endoscopy and genetic testing to support the diagnosis.

Objective:To report the clinical characteristics of a case of childhood amyotrophic lateral sclerosis (ALS) caused by SPTLC2 c.778G>A (p.Glu260Lys) mutation. Methods:Whole exon sequencing or whole genome sequencing data from 1 936 patients in the ALS cohort of Peking Union Medical College Hospital were screened for SPTLC2 gene mutations. Clinical data, laboratory examination, neurophysiological examination and genetic test results of the proband were collected. Results:Only one 9-year-old male child with SPLTC2 gene mutation was found. He was admitted to the Department of Neurology, Peking Union Medical College Hospital in December 2022 due to"progressive limb weakness for more than 4 years". Physical examination revealed atrophy and fasciculations of the tongue. Weakness of 4 limbs, muscle atrophy, as well as bilateral hyperreflexia, clonus, and Babinski sign were present. Whole genome sequencing indicated that SPTLC2 gene had c.778G>A (p.Glu260Lys) missense mutation, and no other pathogenic mutations of ALS related genes were detected. Sanger sequencing and family verification showed that neither father nor mother carried the mutation, suggesting that it was a de novo mutation. Nerve conduction velocity test showed no abnormalities, and electromyography suggested neurogenic lesions. Neurofilament light chain in cerebrospinal fluid and serum were increased significantly. The patient′s symptoms continued worsening even after oral administration of L-serine. Conclusion:SPTLC2 gene mutation can cause childhood ALS, and further study of its potential pathogenesis is helpful to uncover another potential pathway of ALS and a novel therapeutic target.

BACKGROUNDThe long-time exercise test (ET) is used to diagnose the primary periodic paralyses (PPs). However the reference values of ET are many and various. This study aimed to investigate the reference value of long-time ET in the diagnosis of PPs.

METHODSWe recruited 108 healthy subjects, 68 patients with PPs, and 72 patients with other diseases for the study. The procedure of ET was made on the basis of the McManis' method. Electrical responses were recorded from right abductor digiti minimi (ADM) muscle when stimulation of the ulnar nerve at the wrist. After the compound muscle action potential (CMAP) was monitored, subjects were then asked to contract the muscle as strongly as possible for 5 minutes. CMAPs were recorded for 2 seconds immediately after cessation of exercise, then every 5 minutes for 10 minutes, and finally every 10 minutes for 50 minutes. In general, the CMAP amplitudes will fall below the pre-exercise levels in an hour. The largest decrease was calculated and used as results of ET.

RESULTSThe CMAP amplitude decreases had no significant differences between groups when the healthy adults were grouped according to age, gender, height, weight and test time. Decreases in PPs patients (57.76%) were significantly more than in healthy subjects (15.21%) and other disease patients (18.10%, P < 0.001). Receiver operating characteristic (ROC) curve analysis showed that the best threshold is 35.50%.

CONCLUSIONSIn the long-time exercise test, threshold of 35.50% for the CMAP amplitude decrease was identified for abnormal. The result is not influenced by age, gender, height, weight, and test time. About 7.4% of healthy subjects were abnormal in ET.

Adult ; Aged ; Aged, 80 and over ; Exercise Test ; methods ; Female ; Humans ; Male ; Middle Aged ; Paralyses, Familial Periodic ; diagnosis ; Prospective Studies ; Reference Values