The proband was a 32-year-old female patient who sought medical attention for over 9 months of pregnancy, reduced fetal movement, and discomfort in the lower abdomen. The proband and her father had normal activated partial thromboplastin time and prothrombin time, decreased fibrinogen activity and antigen levels, and prolonged thrombin time, whereas the test results of her mother were normal. Ultrasonography showed intermuscular vein thrombosis in the left calf of the proband. Peripheral blood DNA was extracted from the proband and her parents, and Sanger sequencing was performed to detect the base sequences of the FGA, FGB, and FGG genes. The proband and her father had heterozygous missense mutations in exon 6 c.615A > C (p. Leu205Phe) and exon 8 c.1121A > C (p. Tyr374Ser) of the FGG gene. Bioinformatics analysis suggested that the two gene mutations may be the pathogenic mechanism of this congenital hypodysfibrinogenemia family.

Objective:To explore the effect of combining intermittent θ pulse stimulation (iTBS) of the cerebellum with lower extremity exoskeleton robot support on the balance and walking function of stroke survivors.Methods:Seventy-five stroke survivors complicated with lower extremity dysfunction were divided into an iTBS group, an exoskeleton group and a combined group, each of 25, according to a random number table. In addition to conventional rehabilitation training, the iTBS group was given cerebellar iTBS combined with traditional walking training, the exoskeleton group received sham cerebellar iTBS combined with walking training assisted by a lower extremity exoskeleton robot. The combined group received both therapies. The schedule was once a day, 5 days a week for 3 weeks. Before and after the treatment, the 10-metre walking test (10MWT), the Berg Balance Scale (BBS) and the Fugl-Meyer lower extremity assessment (FMA-LE) were used to evaluate the subjects′ walking ability, balance and lower extremity motor ability. Gait and neuro-electrophysiological tests were also conducted in all three groups.Results:After the treatment, a significant improvement was observed in the 10MWT times, BBS scores, FMA-LE scores, stride frequency and stride speed of all three groups compared with before the treatment. On average, the results of the exoskeleton and combined groups were significantly better than those of the iTBS group, and those of the combined group were significantly better than among the exoskeleton group. Almost everyone′s MEP latency and amplitude had improved significantly compared with before the treatment, but the improvements in the exoskeleton group tended to be superior to those in the iTBS group ( P≤0.05). The latency in the combined group averaged (21.25±1.70)ms, and the amplitude averaged (184.17±6.54)μV, both significantly better than the exoskeleton group′s averages. Conclusions:Cerebellum iTBS combined with lower extremity exoskeleton walker training can significantly improve the motor functioning, balance and walking ability of stroke survivors.

Objective:To explore the effect of combining repeated peripheral (rPMS) and central transcranial magnetic stimulation (rTMS) in treating upper limb motor dysfunction after a stroke.Methods:Seventy-eight patients with upper limb motor dysfunction after a stroke were randomly divided into a control group, an rTMS group and a combined magnetic stimulation group, each of 26. All three groups underwent routine rehabilitation, while the rTMS group was repeatedly given low frequency transcranial magnetic stimulation of the M1 region on the unaffected side, and the combined group also received repeated peripheral magnetic stimulation at Erb′s point on the affected upper limb. There was one treatment session a day, 5 days a week for 3 weeks. Before and after the treatment, everyone′s upper limb motor function was quantified using the Fugl-Meyer upper extremity assessment (FMA-UE) and the Wolf motor function test (WMFT). Skill in the activities of daily living was quantified in terms of a Barthel index (BI). Motor recovery of the upper limbs and hands was assessed using Brunnstrom staging. The latency and amplitude of the motor evoked potentials (MEPs) in the subjects′ affected abductor pollicis brevis muscles were also recorded before and after the treatment. Pearson correlation coefficients quantified the correlation between the changes in FMA-UE scores and MEP amplitudes before and after the treatment in the three groups.Results:There were no significant differences among the three groups before the treatment. Afterward, however, the average FMA-UE, WMFT and BI scores, as well as the upper limb and hand Brunnstrom stages and the average MEP latencies and amplitudes of all the three groups had improved significantly. The combined group′s average results were then significantly better than the other two groups′ averages, except for the upper limb Brunnstrom stages. The increases in MEP amplitude were positively correlated with the increases in FMA-UE scores among the rTMS and the combined group, but there was no significant correlation between them in the control group.Conclusions:The combined application of rPMS and contralateral low frequency rTMS can effectively relieve motor dysfunction in the upper limbs in the early stages after a stroke.

ObjectiveTo investigate the clinical features and outcomes of recompensation in patients with autoimmune hepatitis （AIH）-related decompensated cirrhosis， to identify independent predictive factors， and to construct a nomogram prediction model for the probability of recompensation. MethodsA retrospective cohort study was conducted among the adult patients with AIH-related decompensated cirrhosis who were admitted to The Fifth Medical Center of PLA General Hospital from January 2015 to August 2023 （n=211）. The primary endpoint was achievement of recompensation， and the secondary endpoint was liver-related death or liver transplantation. According to the outcome of the patients at the end of the follow-up， the patients were divided into the recompensation group （n=16） and the persistent decompensation group（n=150）.The independent-samples t test was used for comparison of normally distributed continuous data with homogeneity of variance， and the Mann-Whitney U rank sum test was used for comparison of non-normally distributed continuous data with heterogeneity of variance； the chi-square test or the Fisher’s exact test was used for comparison of categorical data between groups； the Kaplan-Meier method was used for survival analysis； the Cox proportional-hazards regression model was used to identify independent predictive factors， and a nomogram model was constructed and validated. ResultsA total of 211 patients were enrolled， with a median age of 55.0 years and a median follow-up time of 44.0 months， and female patients accounted for 87.2%. Among the 211 patients， 61 （with a cumulative proportion of 35.5%） achieved recompensation. Compared with the persistent decompensation group， the recompensation group had significantly higher white blood cell count， platelet count （PLT）， total bilirubin （TBil）， alanine aminotransferase （ALT）， aspartate aminotransferase （AST）， total bile acid， prothrombin time， international normalized ratio （INR）， SMA positive rate， Model for End-Stage Liver Disease （MELD） score， Child-Pugh score， and rate of use of glucocorticoids （all P0.05）， as well as significantly lower age at baseline， number of complications， and death/liver transplantation rate （all P0.05）. At 3 and 12 months after treatment， the recompensation group had continuous improvements in AST， TBil， INR， IgG， MELD score， and Child-Pugh score， which were significantly lower than the values in the persistent decompensation group （all P0.05）， alongside with continuous increases in PLT and albumin， which were significantly higher than the values in the persistent decompensation group （P0.05）. The multivariate Cox regression analysis showed that baseline ALT （hazard ratio ［HR］=1.067， 95% confidence interval ［CI］： 1.010 — 1.127， P=0.021）， IgG （HR=0.463，95%CI：0.258 — 0.833， P=0.010）， SMA positivity （HR=3.122，95%CI：1.768 — 5.515， P0.001）， and glucocorticoid therapy （HR=20.651，95%CI：8.744 — 48.770， P0.001） were independent predictive factors for recompensation， and the nomogram model based on these predictive factors showed excellent predictive performance （C-index=0.87，95%CI：0.84 — 0.90）. ConclusionAchieving recompensation significantly improves clinical outcomes in patients with AIH-related decompensated cirrhosis. Baseline SMA positivity， a high level of ALT， a low level of IgG， and corticosteroid therapy are independent predictive factors for recompensation. The predictive model constructed based on these factors can provide a basis for decision-making in individualized clinical management.

The proband was a 32-year-old female patient who sought medical attention for over 9 months of pregnancy, reduced fetal movement, and discomfort in the lower abdomen. The proband and her father had normal activated partial thromboplastin time and prothrombin time, decreased fibrinogen activity and antigen levels, and prolonged thrombin time, whereas the test results of her mother were normal. Ultrasonography showed intermuscular vein thrombosis in the left calf of the proband. Peripheral blood DNA was extracted from the proband and her parents, and Sanger sequencing was performed to detect the base sequences of the FGA, FGB, and FGG genes. The proband and her father had heterozygous missense mutations in exon 6 c.615A > C (p. Leu205Phe) and exon 8 c.1121A > C (p. Tyr374Ser) of the FGG gene. Bioinformatics analysis suggested that the two gene mutations may be the pathogenic mechanism of this congenital hypodysfibrinogenemia family.

Objective:To explore the effect of combining intermittent θ pulse stimulation (iTBS) of the cerebellum with lower extremity exoskeleton robot support on the balance and walking function of stroke survivors.Methods:Seventy-five stroke survivors complicated with lower extremity dysfunction were divided into an iTBS group, an exoskeleton group and a combined group, each of 25, according to a random number table. In addition to conventional rehabilitation training, the iTBS group was given cerebellar iTBS combined with traditional walking training, the exoskeleton group received sham cerebellar iTBS combined with walking training assisted by a lower extremity exoskeleton robot. The combined group received both therapies. The schedule was once a day, 5 days a week for 3 weeks. Before and after the treatment, the 10-metre walking test (10MWT), the Berg Balance Scale (BBS) and the Fugl-Meyer lower extremity assessment (FMA-LE) were used to evaluate the subjects′ walking ability, balance and lower extremity motor ability. Gait and neuro-electrophysiological tests were also conducted in all three groups.Results:After the treatment, a significant improvement was observed in the 10MWT times, BBS scores, FMA-LE scores, stride frequency and stride speed of all three groups compared with before the treatment. On average, the results of the exoskeleton and combined groups were significantly better than those of the iTBS group, and those of the combined group were significantly better than among the exoskeleton group. Almost everyone′s MEP latency and amplitude had improved significantly compared with before the treatment, but the improvements in the exoskeleton group tended to be superior to those in the iTBS group ( P≤0.05). The latency in the combined group averaged (21.25±1.70)ms, and the amplitude averaged (184.17±6.54)μV, both significantly better than the exoskeleton group′s averages. Conclusions:Cerebellum iTBS combined with lower extremity exoskeleton walker training can significantly improve the motor functioning, balance and walking ability of stroke survivors.

Objective:To explore the effect of combining repeated peripheral (rPMS) and central transcranial magnetic stimulation (rTMS) in treating upper limb motor dysfunction after a stroke.Methods:Seventy-eight patients with upper limb motor dysfunction after a stroke were randomly divided into a control group, an rTMS group and a combined magnetic stimulation group, each of 26. All three groups underwent routine rehabilitation, while the rTMS group was repeatedly given low frequency transcranial magnetic stimulation of the M1 region on the unaffected side, and the combined group also received repeated peripheral magnetic stimulation at Erb′s point on the affected upper limb. There was one treatment session a day, 5 days a week for 3 weeks. Before and after the treatment, everyone′s upper limb motor function was quantified using the Fugl-Meyer upper extremity assessment (FMA-UE) and the Wolf motor function test (WMFT). Skill in the activities of daily living was quantified in terms of a Barthel index (BI). Motor recovery of the upper limbs and hands was assessed using Brunnstrom staging. The latency and amplitude of the motor evoked potentials (MEPs) in the subjects′ affected abductor pollicis brevis muscles were also recorded before and after the treatment. Pearson correlation coefficients quantified the correlation between the changes in FMA-UE scores and MEP amplitudes before and after the treatment in the three groups.Results:There were no significant differences among the three groups before the treatment. Afterward, however, the average FMA-UE, WMFT and BI scores, as well as the upper limb and hand Brunnstrom stages and the average MEP latencies and amplitudes of all the three groups had improved significantly. The combined group′s average results were then significantly better than the other two groups′ averages, except for the upper limb Brunnstrom stages. The increases in MEP amplitude were positively correlated with the increases in FMA-UE scores among the rTMS and the combined group, but there was no significant correlation between them in the control group.Conclusions:The combined application of rPMS and contralateral low frequency rTMS can effectively relieve motor dysfunction in the upper limbs in the early stages after a stroke.

Objective:To observe the effect of combining transcutaneous stimulation of the auricular vagus nerve (taVNS) with modified constraint-induced movement therapy (mCIMT) on the upper limb function of hemiplegic stroke survivors.Methods:Seventy-one hemiplegic stroke survivors were randomly divided into a taVNS group of 24, an mCIMT group of 23 and a combined group of 24. In addition to conventional rehabilitation therapy, the taVNS group received taVNS therapy, the mCIMT group received mCIMT, while the combined group received both for 30 minutes a day, 5 days a week for 4 weeks. Before and after the treatment, everyone′s upper limb function was evaluated using the Fugl-Meyer upper extremity assessment (FMA-UE) and the Action Research arm test (ARAT). Ability in the activities of daily living (ADL) was quantified using the modified Barthel index (MBI). The latency and amplitude of motor evoked potentials (MEPs) were also measured.Results:After the treatment, significant improvement was observed in the average FMA-UE, ARAT and MBI scores. MEP latency and amplitude had also improved. The averages in the mCIMT group were then significantly better than among the taVNS group.Conclusions:taVNS combined with mCIMT can significantly improve the upper limb function and ADL functioning of stroke survivors with hemiplegia. It can also promote the recovery of central nervous system function.

Objective:To observe the effect of combining transcutaneous stimulation of the auricular vagus nerve (taVNS) with modified constraint-induced movement therapy (mCIMT) on the upper limb function of hemiplegic stroke survivors.Methods:Seventy-one hemiplegic stroke survivors were randomly divided into a taVNS group of 24, an mCIMT group of 23 and a combined group of 24. In addition to conventional rehabilitation therapy, the taVNS group received taVNS therapy, the mCIMT group received mCIMT, while the combined group received both for 30 minutes a day, 5 days a week for 4 weeks. Before and after the treatment, everyone′s upper limb function was evaluated using the Fugl-Meyer upper extremity assessment (FMA-UE) and the Action Research arm test (ARAT). Ability in the activities of daily living (ADL) was quantified using the modified Barthel index (MBI). The latency and amplitude of motor evoked potentials (MEPs) were also measured.Results:After the treatment, significant improvement was observed in the average FMA-UE, ARAT and MBI scores. MEP latency and amplitude had also improved. The averages in the mCIMT group were then significantly better than among the taVNS group.Conclusions:taVNS combined with mCIMT can significantly improve the upper limb function and ADL functioning of stroke survivors with hemiplegia. It can also promote the recovery of central nervous system function.

Objective:To evaluate the effect of combining contralateral high-frequency transcranial magnetic stimulation (rTMS) with biofeedback-controlled empty swallowing training on dysphagia among stroke survivors.Methods:Eighty dysphagic stroke survivors were divided at random into a control group, a biofeedback group, an rTMS group and a combined treatment group, each of 20. In addition to routine dysphagia rehabilitation, the biofeedback group and the rTMS group received empty swallowing training based on biofeedback or high-frequency rTMS applied to the healthy motor cortex as appropriate. The combined treatment group was given both. The treatment was administered once daily, 5 days a week for 3 consecutive weeks. Before and after the treatment, all of the subjects′ swallowing was evaluated using the penetration aspiration scale (PAS), functional oral intake scale (FOIS) and a standardized swallowing assessment (SSA). The latency and amplitude of the mylohyoid muscle′s motor evoked potentials (MEPs) were also recorded before and after the treatment.Results:After the treatment, significant improvement was observed in the average PAS, FOIS and SSA scores as well as in the latency and amplitude of the MEPs in the four groups. The average results in the combined treatment group were significantly better than in the other 3 groups. The latency of the mylohyoid muscle′s MEP was significantly shorter in the combined group than in the control and biofeedback groups on average, while the amplitude was significantly greater than in the control group.Conclusion:Combining contralateral high frequency rTMS with empty swallowing training based on biofeedback can better improve the swallowing of dysphagic stroke survivors.