Detachable string magnetically controlled capsule endoscopy for the noninvasive diagnosis of esophageal diseases:A prospective,blind clinical study

BACKGROUND Traditional esophagogastroduodenoscopy(EGD),an invasive examination method,can cause discomfort and pain in patients.In contrast,magnetically controlled capsule endoscopy(MCE),a noninvasive method,is being applied for the detection of stomach and small intestinal diseases,but its application in treating esophageal diseases is not widespread.AIM To evaluate the safety and efficacy of detachable string MCE(ds-MCE)for the diagnosis of esophageal diseases.METHODS Fifty patients who had been diagnosed with esophageal diseases were pros-pectively recruited for this clinical study and underwent ds-MCE and conven-tional EGD.The primary endpoints included the sensitivity,specificity,positive predictive value,negative predictive value,and diagnostic accuracy of ds-MCE for patients with esophageal diseases.The secondary endpoints consisted of visualizing the esophageal and dentate lines,as well as the subjects'tolerance of the procedure.RESULTS Using EGD as the gold standard,the sensitivity,specificity,positive predictive value,negative predictive value,and diagnostic accuracy of ds-MCE for esophageal disease detection were 85.71%,86.21%,81.82%,89.29%,and 86%,respectively.ds-MCE was more comfortable and convenient than EGD was,with 80%of patients feeling that ds-MCE examination was very comfortable or comfortable and 50%of patients believing that detachable string v examination was very convenient.CONCLUSION This study revealed that ds-MCE has the same diagnostic effects as traditional EGD for esophageal diseases and is more comfortable and convenient than EGD,providing a novel noninvasive method for treating esophageal diseases.

Relationship between hemoglobin glycation index and risk of hypoglycemia in type 2 diabetes with time-in-range in target

BACKGROUND In patients with type 2 diabetes mellitus(T2DM),the risk of hypoglycemia also occurs in at a time-in-range(TIR)of>70%.The hemoglobin glycation index(HGI)is considered the best single factor for predicting hypoglycemia,and offers new perspectives for the individualized treatment of patients with well-controlled blood glucose levels that are easily ignored in clinical settings.All participants underwent a 7-days continuous glucose monitoring(CGM)using a retrospective CGM system.We obtained glycemic variability indices using the CGM system.We defined HGI as laboratory hemoglobin A1c minus the glucose management indicator.Patients were categorized into low HGI(HGI<0.5)and high HGI groups(HGI≥0.5)according to HGI median(0.5).Logistic regression and receiver operating characteristic curve analyses were used to determine the risk factors for hypoglycemia.RESULTS We included 129 subjects with T2DM(54.84±12.56 years,46%male)in the study.Median TIR score was 90%.The high HGI group exhibited lower TIR and greater time below range with higher hemoglobin A1c than the low HGI group;this suggests more glycemic excursions and an increased incidence of hypoglycemia in the high HGI group.Multivariate analyses revealed that mean blood glucose,standard deviation of blood glucose and HGI were independent risk factors for hypoglycemia.Receiver operating characteristic curve analysis indicated that the HGI was the best predictor of hypoglycemia.In addition,the optimal cut-off points for HGI,mean blood glucose,and standard deviation of blood glucose in predicting hypoglycemia were 0.5%,7.2 mmol/L and 1.4 mmol/L respectively.CONCLUSION High HGI was significantly associated with greater glycemic excursions and increased hypoglycemia in patients with TIR>70%.Our findings indicate that HGI is a reliable predictor of hypoglycemia in this population.

Argon supper-cryosurgery for patients with middle and late stage liver cancer

OBJECTIVE: To assess the value of argon supper-cryosurgery for 42 patients with middle and late stage liver cancer. METHODS: Forty-two patients who had received argon supper-cryosurgery were analyzed retrospectively in terms of their clinical characteristics as well as the performance of argon supper-cryosurgery. RESULTS: All patients were ameliorated in symptoms shortly after the operation, including pain alleviation, psyche straightening up, alpha-fetoprotein descending or recovery. Jaundice occurred in 1 patient and intraabdominal hemorrhage in 2. The levels of aspartate transaminase and alanine transaminase in all patients were elevated 1 month after the operation, and normalized after protective therapy of the liver. No operative death was noted. CONCLUSIONS: Cold and heat reversed therapy of argon supper-cryosurgery can drastically destroy tumor tissue, especially the tumors which are too large to resect or close to the large vessels. It is applicable to increase the operative rate, decrease the operative death rate, and enlarge the therapeutic scope.

Geometrical study on diseaserelated ncRNAs based on Z-curve method

The Z curve is a very useful method for visual-izing and analyzing DNA sequences. It is a three-dimensional space curve that constitutes a unique representation of a given DNA se-quence. It becomes more and more important to study non-coding regions in the recent years. Using Z curve method, 15 disease-related ncRNAs and some snoRNAs and miRNAs sequences are selected from the NONCODE database in this paper, which relate to Alzheimer Disease. The corresponding Z curves of the studied ncRNAs, sequences have been mapped and compared. The statistical features of the Z curves are ob-tained. These features indicate that the ncRNAs sequences playing same roles in the celluar process have almost the same Z-curves. And the base content in these sequences is almost same too.

Median arcuate ligament syndrome complicated with gallbladder stones:A case report

BACKGROUND Median arcuate ligament syndrome(MALS)is a rare disease caused by compression of the celiac trunk artery by the median arcuate ligament(MAL).It can cause symptoms of postprandial abdominal pain,weight loss,and nausea and vomiting.CASE SUMMARY A 55-year-old woman was admitted due to abdominal pain,nausea and vomiting.On admission,the patient presented with epigastric pain that worsened after eating,without signs of peritoneal irritation.Computed tomography angiography of the upper abdomen showed compression of the proximal segment of the abdominal trunk,local luminal stenosis with angular“fishhook”changes,which changed significantly during forceful inspiration and expiration;gallbladder stones;and multiple cysts in the liver.Abdominal duplex ultrasonography showed that peak systolic velocity was 352 cm/s.After diagnosis of MALS was confirmed,an arch ligament release procedure was performed.MALS has no specific symptoms and can be misdiagnosed as other abdominal diseases.Awareness of MALS should be improved to avoid misdiagnosis.The commonly used treatment option is MAL release and resection of the peripheral ganglion of the celiac trunk artery.CONCLUSION The diagnosis and treatment of MALS must be individualized,and MAL release is effective and provides immediate symptomatic relief.

Application of next generation sequencing in the screening of monogenic diseases in China,2021:a consensus among Chinese newborn screening experts

Newborn screening(NBS)refers to a maternal and newborn healthcare technology,in which special examinations of congenital and genetic diseases that could seriously impact the health of newborns,are implemented during the neonatal period to provide early diagnosis and treatment[1].With a history of more than 60 years,NBS has advanced greatly due to technological progress resulting in significant improvement in the number of diseases covered by NBS and in screening efficiency[2-7].

MicroRNA-34c promotes neuronal recovery in rats with spinal cord injury through the C-X-C motif ligand 14/Janus kinase 2/signal transducer and activator of transcription-3 axis

Background:Developing effective spinal cord repair strategies for spinal cord injury(SCI)is of great importance.Emerging evidence suggests that microRNAs(miRNAs)are closely linked to SCI recovery.This study aimed to investigate the function of miR-34c in the neuronal recovery in rats with SCI.Methods:A rat model with SCI was established.Differentially expressed miRNAs were identified by a microarray analysis.MiR-34c expression in rats was measured by reverse transcription quantitative polymerase chain reaction.Altered expression of miR-34c or C-X-C motif ligand 14(CXCL14)was introduced in SCI rats to measure their roles in neuronal recovery.Western blot analysis was performed to determine the phosphorylation of Janus kinase 2(JAK2)and signal transducer and activator of transcription-3(STAT3).Neuronal apoptosis in rat spinal cord tissues was detected.The concentrations of SCI recovery-related proteins thyrotropin releasing hormone(TRH),prostacyclin(PGI2),and ganglioside(GM)were evaluated by enzyme-linked immunosorbent assay.Data were analyzed using a t-test with a one-way or two-way analysis of variance.Results:Rats with SCI presented decreased grip strength(112.03±10.64 vs.17.32±1.49 g,P<0.01),decreased miR-34c expression(7 days:3.78±0.44 vs.0.95±0.10,P<0.05),and increased CXCL14 expression(7 days:0.61±0.06 vs.2.91±0.27,P<0.01).MiR-34c was found to directly bind to CXCL14.Overexpression of miR-34c increased grip strength(11.23±1.08 vs.31.26±2.99 g,P<0.01)and reduced neuronal apoptosis in spinal cord tissues(53.61%±6.07%vs.24.59%±3.32%,P<0.01),and silencing of CXCL14 also increased the grip strength(12.76±1.13 vs.29.77±2.75 g,P<0.01)and reduced apoptosis in spinal cord tissues(55.74%±6.24%vs.26.75%±2.84%,P<0.01).In addition,miR-34c upregulation or CXCL14 downregulation increased the concentrations of TRH,PGI2,and GM,and reduced phosphorylation of JAK2 and STAT3 in rats with SCI(all P<0.01).Conclusion:The study provided evidence that miR-34c could promote neuronal recovery in rats with SCI through inhibiting CXCL14 expression and inactivating the JAK2/STAT3 pathway.This study may offer new insights into SCI treatment.

Realizing high thermoelectric performance of Cu and Ce co-doped p-type polycrystalline SnSe via inducing nanoprecipitation arrays

Thermoelectric(TE)performance of polycrystalline stannous selenide(SnSe)has been remarkably promoted by the strategies of energy band,defect engineering,etc.However,due to the intrinsic insufficiencies of phonon scattering and carrier concentration,it is hard to simultaneously realize the regulations of electrical and thermal transport properties by one simple approach.Herein,we develop Cu and Ce co-doping strategy that can not only greatly reduce lattice thermal conductivity but also improve the electrical transport properties.In this strategy,the incorporated Cu and Ce atoms could induce high-density SnSe_(2) nanoprecipitation arrays on the surface of SnSe microplate,and produce dopant atom point defects and dislocations in its interior,which form multi-scale phonon scattering synergy,thereby presenting an ultralow thermal conductivity of 0.275 W·m^(−1)·K^(−1) at 786 K.Meanwhile,density functional theory(DFT)calculations,carrier concentration,and mobility testing reveal that more extra hole carriers and lower conducting carrier scattering generate after Cu and Ce co-doping,thereby improving the electrical conductivity.The co-doped Sn_(0.98)Cu_(0.01)Ce_(0.01)Se bulk exhibits an excellent ZT value up to~1.2 at 786 K and a high average ZT value of 0.67 from 300 to 786 K.This work provides a simple and convenient strategy of enhancing the TE performance of polycrystalline SnSe.

Flexible hollow TiO_(2)@CMS/carbon-fiber van der Waals heterostructures for simulated-solar light photocatalysis and photoelectrocatalysis

The recycling technology of photocatalyst powdery has hardly been mature in the photocatalytic oxidation so far.In this work,the hollow TiO_(2)microspheres with an appropriate thickness are confined in carbon microspheres(CMSs)to form hollow TiO_(2)@CMSs,which are physically integrated with carbon-fiber textile by van der Waals(vdW)interactions to generate separable and recyclable hollow TiO_(2)@CMSs/carbon-fiber vdW heterostructures.Such separable and recyclable heterostructures show remarkable oxidation of 2,4-dinitrophenol.From our detailed characterization and density functional theory(DFT)calculations,we found that carbon fiber can trap electrons exerted from the excitation of hollow TiO_(2)@CMSs and creates holes in hollow TiO_(2)microspheres,which endow the carbon fiber with photocatalytic activity through coherent charge injection.This study indicates that our general strategy for the fabrication of hollow TiO_(2)@CMSs/carbon-fiber vdW heterostructures can be used as separable and recyclable photocatalyst and photoelectrocatalyst with potential industrial applications in environmentrelated fields.

Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models

Background Megalencephalic leukoencephalopathy with subcortical cysts(MLC)is a rare neurological degenerative disorder caused by the mutations of MLC1 or GLIALCAM with autosomal recessive or autosomal dominant inheritance and a different prognosis,characterized by macrocephaly,delayed motor and cognitive development,and bilateral abnormal signals in cerebral white matter(WM)with or without cysts on magnetic resonance imaging(MRI).This study aimed to reveal the clinical and genetic features of MLC patients with GLIALCAM mutations and to explore the brain pathological characteristics and prognosis of mouse models with different modes of inheritance.Methods Clinical information and peripheral venous blood were collected from six families.Genetic analysis was performed by Sanger sequencing of GLIALCAM.Glialcam^(Arg92Trp/+)and Glialcam^(Lys68Met/Thr132Asn)mouse models were generated based on mutations from patients(c.274C>T(p.Arg92Trp)(c.203A>T(p.Lys68Met),and c.395C>A(p.Thr132Asn))).Brain pathologies of the mouse models at different time points were analyzed.Results Six patients were clinically diagnosed with MLC.Of the six patients,five(Pt1-Pt5)presented with a heterozygous mutation in GLIALCAM(c.274C>T(p.Arg92Trp)or c.275G>C(p.Arg92Pro))and were diagnosed with MLC2B;the remaining patient(Pt6)with two compound heterozygous mutations in GLIALCAM(c.203A>T(p.Lys68Met)and c.395C>A(p.Thr132Asn))was diagnosed with MLC2A.The mutation c.275C>G(p.Arg92Pro)has not been reported before.Clinical manifestations of the patient with MLC2A(Pt6)progressed with regression,whereas the course of the five MLC2B patients remained stable or improved.The Glialcam^(Arg92Trp/+)and Glialcam^(Lys68Met/Thr132Asn)mouse models showed vacuolization in the anterior commissural WM at 1 month of age and vacuolization in the cerebellar WM at 3 and 6 months,respectively.At 9 months,the vacuolization of the GlialcamiLys68Met/Thr132Asn mouse model was heavier than that of the Glialcam^(Arg92Trp/+)mouse model.Decreased expression of Glialcam in Glialcam^(Arg92Trp/+)and Glialcam^(Lys68Met/Thr132Asn)mice may contribute to the vacuolization.Conclusions Clinical and genetic characterization of patients with MLC and GLIALCAM mutations revealed a novel mutation,expanding the spectrum of GLIALCAM mutations.The first Glialcam mouse model with autosomal recessive inheritance and a new Glialcam mouse model with autosomal dominant inheritance were generated.The two mouse models with different modes of inheritance showed different degrees of brain pathological features,which were consistent with the patients'phenotype and further confirmed the pathogenicity of the corresponding mutations.

Early recombinant human growth hormone treatment improves mental development and alleviates deterioration of motor function in infants and young children with Prader–Willi syndrome

Background Recombinant human growth hormone(rhGH)therapy has shown to improve height and body composition in children with Prader–Willi syndrome(PWS),the evidence of early rhGH treatment on motor and mental development is still accumulating.This study explored the time effect on psychomotor development,anthropometric indexes,and safety for infants and young children with PWS.Methods A phase 3,single-arm,multicenter,self-controlled study was conducted in six sites.Patients received rhGH at 0.5 mg/m2/day for first four weeks,and 1 mg/m2/day thereafter for up to 52 weeks.Motor development was measured using Peabody Developmental Motor Scales-second edition,mental development using Griffiths Development Scales-Chinese(GDS-C).Height standard deviation score(SDS),body weight SDS,and body mass index(BMI)SDS were also assessed.Results Thirty-five patients were enrolled totally.Significant improvements were observed in height,body weight,and BMI SDS at week 52;GDS-C score showed significant improvement in general quotient(GQ)and sub-quotients.In a linear regression analysis,total motor quotient(TMQ),gross motor quotient(GMQ),and fine motor quotient were negatively correlated with age;however,treatment may attenuate deterioration of TMQ and GMQ.Changes in GQ and locomotor sub-quotient in<9-month group were significantly higher than≥9-month group.Mild to moderate severity adverse drug reactions were reported in six patients.Conclusion Fifty-two-week treatment with rhGH improved growth,BMI,mental development,and lessened the deterioration of motor function in infants and young children with PWS.Improved mental development was more pronounced when instituted in patients<9 months old.

Multisystem involvement in Chinese patients with neuromyopathic phenotype of mitochondrial trifunctional protein deficiency

Mitochondrial trifunctional protein(MTP)is a multienzyme complex,which catalyzes the last three steps of mitochondrial p-oxidation of the long-chain fatty acids.Structurally,MTP consists of four a-subunits and four P-subunits,which are encoded by HADHA gene(OMIM 600890)and HADHB gene(OMIM 143450),respectively.Mutations in HADHA or HADHB lead to varying degrees of decline in MTP activity,that in turn results in three types of clinical manifestations:a severe phenotype with neonatal onset,a hepatic phenotype with infantile onset,and a neuromyopathic phenotype with later onset.