BACKGROUND Atypical optic neuritis,consisting of neuromyelitis optica spectrum disorders(NMOSD)or myelin oligodendrocyte glycoprotein antibody disease(MOGAD),has a very similar presentation but different prognostic im...BACKGROUND Atypical optic neuritis,consisting of neuromyelitis optica spectrum disorders(NMOSD)or myelin oligodendrocyte glycoprotein antibody disease(MOGAD),has a very similar presentation but different prognostic implications and longterm management strategies.Vascular and metabolic factors are being thought to play a role in such autoimmune neuro-inflammatory disorders,apart from the obvious immune mediated damage.With the advent of optical coherence tomography angiography(OCTA),it is easy to pick up on these subclinical macular microvascular and structural changes.AIM To study the macular microvascular and structural changes on OCTA in atypical optic neuritis.METHODS This observational cross-sectional study involved 8 NMOSD and 17 MOGAD patients,diagnosed serologically,as well as 10 healthy controls.Macular vascular density(MVD)and ganglion cell+inner plexiform layer thickness(GCIPL)were studied using OCTA.RESULTS There was a significant reduction in MVD in NMOSD and MOGAD affected as well as unaffected eyes when compared with healthy controls.NMOSD and MOGAD affected eyes had significant GCIPL thinning compared with healthy controls.NMOSD unaffected eyes did not show significant GCIPL thinning compared to healthy controls in contrast to MOGAD unaffected eyes.On comparing NMOSD with MOGAD,there was no significant difference in terms of MVD or GCIPL in the affected or unaffected eyes.CONCLUSION Although significant microvascular and structural changes are present on OCTA between atypical optic neuritis and normal patients,they could not help in differentiating between NMOSD and MOGAD cases.展开更多
Introduction: Crohn’s Disease (CD) is a chronic inflammatory disorder with a heterogeneous presentation. While diarrhea, abdominal pain, and weight loss are hallmarks, atypical manifestations can obscure the diagnosi...Introduction: Crohn’s Disease (CD) is a chronic inflammatory disorder with a heterogeneous presentation. While diarrhea, abdominal pain, and weight loss are hallmarks, atypical manifestations can obscure the diagnosis. This report highlights an unusual presentation of CD to emphasize the need for comprehensive diagnostic strategies. Case Report: A 25-year-old male presented with peripheral edema, anorexia, and abdominal distension but lacked classic gastrointestinal (GI) symptoms. Laboratory findings included microcytic anemia and hypoalbuminemia, while imaging revealed ascites and bowel wall thickening. Elevated fecal calprotectin and positive Anti-Saccharomyces cerevisiae antibodies (ASCA) supported the diagnosis. Endoscopy confirmed ileocolic Crohn’s Disease (L3 + L4). Infliximab therapy resulted in marked clinical improvement. Discussion: This case underscores the complexity of atypical CD presentations. Early use of serological markers, imaging, and endoscopy guided the diagnosis. Recognition of CD’s diverse manifestations is critical for timely intervention. Conclusion: Atypical CD presentations require heightened clinical suspicion and a multidisciplinary approach to reduce diagnostic delays and improve patient outcomes.展开更多
Hydatid disease,caused by the Echinococcus granulosus parasite,is traditionally associated with liver and lung involvement.However,recent years have seen an increase in cases with atypical localizations,such as the ki...Hydatid disease,caused by the Echinococcus granulosus parasite,is traditionally associated with liver and lung involvement.However,recent years have seen an increase in cases with atypical localizations,such as the kidneys,thyroid,soft tissues,and bones.The study by Celik et al presents a series of five clinical cases where hydatid cysts were found in these rare anatomical regions,challenging conventional diagnostic and therapeutic approaches.The paper emphasizes the importance of differential diagnosis,as these cases can mimic other conditions,such as cancer,abscesses,or cysts.Advanced imaging techniques,such as com-puted tomography,magnetic resonance imaging,and ultrasound,play a crucial role in accurate diagnosis and help avoid misdiagnosis.The study demonstrates that early diagnosis and appropriate treatment of echinococosis in atypical localiz-ations are critical for preventing complications like cyst rupture and secondary infections.The use of albendazole and surgical intervention,especially in combi-nation with modern imaging techniques,yields good outcomes in these patients.However,several unanswered questions remain:What are the precise criteria for selecting the optimal treatment method in each case?What is the long-term effect-iveness of different approaches?Do patients with hydatid cysts in atypical lo-cations require additional monitoring and preventive treatment to avoid recu-rrence?Addressing these questions requires further research,and a multidisci-plinary approach involving radiologists,surgeons,and infectious disease spe-cialists is essential to optimize diagnosis and treatment.Early and accurate diagnostic methods based on differential diagnosis play a key role in improving treatment outcomes and reducing morbidity.展开更多
Hepatitis A virus(HAV)infection remains a significant public health concern in many developing countries.The annual incidence of HAV infection is 1.5 million,though this figure may be underestimated owing to the infec...Hepatitis A virus(HAV)infection remains a significant public health concern in many developing countries.The annual incidence of HAV infection is 1.5 million,though this figure may be underestimated owing to the infection’s asymptomatic nature and the presence of milder disease variants.The clinical spectrum of HAV infection now ranges from asymptomatic infection to fulminant hepatitis.Despite the availability of safe and highly effective vaccines,HAV infections remain a major contributor to acute viral hepatitis worldwide.展开更多
BACKGROUND Hydatid cyst disease,caused by Echinococcus granulosus,primarily affects the liver and lungs,but it can also develop in rare locations such as the kidneys,thyroid,subcutaneous tissues,bones,and the mediasti...BACKGROUND Hydatid cyst disease,caused by Echinococcus granulosus,primarily affects the liver and lungs,but it can also develop in rare locations such as the kidneys,thyroid,subcutaneous tissues,bones,and the mediastinum.These atypical presentations often pose diagnostic challenges,as they can mimic benign and malignant pathologies,leading to potential misdiagnoses and inappropriate treatments.Early and accurate detection of hydatid cysts in uncommon sites is crucial for optimal patient management.CASE SUMMARY This case report series presents five patients with hydatid cysts located in atypical anatomical regions:The kidney,lumbar subcutaneous tissue,gluteal soft tissue,posterior mediastinum,and thyroid gland.The patients exhibited diverse clinical symptoms,including hematuria,palpable masses,localized pain,and chronic cough.Diagnosis was confirmed through a combination of imaging techniquesultrasound,computed tomography,and magnetic resonance imaging-along with serological testing.All cases were managed with antiparasitic therapy(albendazole),and in selected cases,surgical excision was performed to prevent complications such as cyst rupture or secondary infections.Post-treatment follow-up demonstrated complete resolution or stable cystic lesions,with no signs of recurrence.CONCLUSION Recognizing hydatid cysts in atypical locations is essential to avoid misdiagnosis and ensure appropriate treatment strategies.Radiological imaging plays a key role in distinguishing hydatid cysts from other cystic and neoplastic conditions,while serological tests can aid in confirmation,particularly in endemic regions.A multidisciplinary approach,integrating radiology,clinical evaluation,and surgical expertise,is critical for effective diagnosis and management.This report highlights the need for increased awareness of extrapulmonary and extravisceral hydatid disease,emphasizing its significance in differential diagnosis and clinical practice.展开更多
BACKGROUND Atypical depression is an important indicator of a high risk of bipolar disorder and a genetic predisposition to immunometabolic traits.AIM To analyze common depression assessment scales for their inclusion...BACKGROUND Atypical depression is an important indicator of a high risk of bipolar disorder and a genetic predisposition to immunometabolic traits.AIM To analyze common depression assessment scales for their inclusion of items related to atypical symptoms such as mood reactivity,hypersomnia,increased appetite(or weight gain),leaden paralysis,and interpersonal sensitivity.METHODS A search for English-language articles was conducted without time restrictions in the MEDLINE and Russian Science Citation Index databases using the following keywords:“depression”OR“bipolar depression”AND“scales”OR“questionnaires”.The analytical method used in this review involved a descriptive analysis of the included studies.RESULTS After reviewing studies on the validation of depression assessment scales,we found that only a small number include items addressing both increases and decreases in appetite or weight,as well as variations in sleep duration.Moreover,only a few studies have evaluated mood reactivity,leaden paralysis,and interpersonal sensitivity.The most well-developed scale that considers all aspects of atypical and non-atypical depressions is the Inventory of Depressive Symptomatology.CONCLUSION Ignoring atypical symptoms in common scales can lead to underestimation of depression severity and inaccuracies in evaluating therapy effectiveness in clinical trials, as well as hinder fundamental research aimed at finding biomarkers.展开更多
Inverted p-i-n perovskite solar cells(PSCs)based on self-assembled monolayers(SAMs)as hole-selective layers(HSLs)have produced potential record efficiencies of more than 26%by tuning work function,dipole,and passivati...Inverted p-i-n perovskite solar cells(PSCs)based on self-assembled monolayers(SAMs)as hole-selective layers(HSLs)have produced potential record efficiencies of more than 26%by tuning work function,dipole,and passivation defects.However,the stability of the SAM molecules,the stability of the molecular anchoring conformation,and the impact on the stability of subsequent PSCs have not been clearly elucidated.In this review,we systematically discussed the intrinsic connection between the molecular conformation(including anchoring groups,spacer groups,and terminal groups)and the stability of SAMs.Sequentially,the research progress of SAMs as HSLs in improving the stability of PSCs is summarized,including photostability,thermal stability,ion migration,and residual stress.Finally,we look forward to the shortcomings and possible challenges of using SAMs as HSLs for inverted PSCs.展开更多
We use out-of-time order correlators(OTOCs)to investigate the quantum instability and Ehrenfest time for an inverted harmonic oscillator(IHO).For initial states located in the stable manifolds of the IHO we find that ...We use out-of-time order correlators(OTOCs)to investigate the quantum instability and Ehrenfest time for an inverted harmonic oscillator(IHO).For initial states located in the stable manifolds of the IHO we find that the corresponding OTOC exhibits identical evolutionary characteristics to the saddle point before the Ehrenfest time.For initial states located in the unstable manifolds,the OTOCs still grow exponentially but the time to maintain exponential growth is related to the center position of its wave packet in phase space.Moreover,we use the Husimi Q function to visualize the quantum wave packets during exponential growth of the OTOCs.Our results show that quantum instability exists at arbitrary orbits in the IHO system,and the Ehrenfest time in the IHO system depends not only on the photon number of the initial system but also on the central positions of the initial states in phase space.展开更多
Flexible perovskite solar cells(fPSCs)have demonstrated commercial viability because of their promising lightness,flexibility,and low-cost advantages.However,in most applications,the fPSCs suffer from constant externa...Flexible perovskite solar cells(fPSCs)have demonstrated commercial viability because of their promising lightness,flexibility,and low-cost advantages.However,in most applications,the fPSCs suffer from constant external stress,such as being kept at a convex bending state,imposing external stress on the brittle perovskite films and causing the fPSCs long-term stability problems.Overcoming these issues is vital.Herein,we propose an effective way to enhance the stability of the fPSCs under convex bending by modulating the residual stress of perovskite film for the first time.Specifically,we have carefully designed a synergistic strain engineering to toughen the perovskite films by introducing 1-butyl-3-methylimidazolium tetrafluoroborate,citric acid,and a novel cross-linker,5-(1,2-dithiolan-3-yl)pentanoate into perovskite films simultaneously.Besides passivating the perovskite films,the multiple additives effectively convert the residual stress within the perovskite films from tensile to compressive type to alleviate the detrimental impact of bending on the flexible perovskite films.As a result,the optimal efficiencies of triple-additive modified fPSCs have achieved 22.19%(0.06 cm^(2))and 19.44%(1.02 cm^(2)).More importantly,the strategy could significantly improve the stability of the perovskite films and fPSCs at a convex bending state.Our approach is inductive for the future practical field applications of high-performance fPSCs.展开更多
The 2D/3D heterojunction perovskites have garnered increasing attention due to their exceptional moisture and thermal stability.However,few works have paid attention to the influence of the subsequent change process o...The 2D/3D heterojunction perovskites have garnered increasing attention due to their exceptional moisture and thermal stability.However,few works have paid attention to the influence of the subsequent change process of 2D/3D heterojunction PSC on the stability of PSCs.Moreover,the evolution of the interface and carrier dynamic behavior of the 2D/3D perovskite films with long-term operation has not been systematically developed befo re.In this work,the effects of 2D/3 D heterojunction evolution on the interface of perovskite films and different carrier dynamics during 2D/3D evolution are systematically analyzed for the first time.The decomposition of 2D/3D heterojunction in the perovskite film will have a certain impact on the surface and carrier dynamics behavior of perovskite.During the evolution of 2D/3D heterojunction,PbI_(2)crystals will appear,which will improve the interfacial energy level matching between the electron transport layer and perovskite film.With a long evolution time,some holes will appear on the surface of perovskite film.The open circuit voltage(V_(OC))of PSCs increased from 1.14 to1.18 V and the PCE increased to 23.21%after 300 h storage in the nitrogen atmosphere,and maintained 89%initial performance for with 3000 h stability test in N_(2)box.This discovery has a significant role in promoting the development of inverted heterojunction PSCs and constructing the revolution mechanism of charge carrier dynamic.展开更多
The predominance of pituitary adenoma in the etiology of sellar masses often leads to the diagnostic fallacy of“availability bias”so that pituitary adenoma is almost always considered the most likely diagnosis of al...The predominance of pituitary adenoma in the etiology of sellar masses often leads to the diagnostic fallacy of“availability bias”so that pituitary adenoma is almost always considered the most likely diagnosis of all sellar masses,even when clinical evidence suggests otherwise.Primary sellar atypical teratoid/rhabdoid tumor(AT/RT)is the most aggressive sellar tumor.Most patients with sellar AT/RT are initially misdiagnosed with pituitary macroadenoma.Early diagnosis of sellar AT/RT is of paramount importance to counsel patients and family on the grave prognosis and to avoid futile surgical procedures.Since there are no discerning imaging features to differentiate AT/RT from other sellar tumors,the acuity of sellar compression symptoms characteristic of AT/RT is the only evidence indicative of the AT/RT diagnosis.Based on the biological and anatomical properties of the sella turcica and its surrounding structures,the nature,order of manifestation,and acuity of the sellar compression symptoms in response to sellar content expansion are mostly predictable.It is concluded that rapidly progressive headache and subsequent similarly rapidly progressive visual symptoms in a female with a large sellar mass are pathognomonic of sellar AT/RT(the“Yu rule”).展开更多
Inorganic CsPbI_(3)perovskite with superior thermal stability and photoelectric properties has developed into a promising candidate for photovoltaic applications.Nevertheless,the power conversion efficiency(PCE)of CsP...Inorganic CsPbI_(3)perovskite with superior thermal stability and photoelectric properties has developed into a promising candidate for photovoltaic applications.Nevertheless,the power conversion efficiency(PCE)of CsPbI_(3)perovskite solar cells(PSCs)still lags far behind that of both organic-inorganic hybrid counterparts and the theoretical PCE limit,primarily restricted by severe fill factor(FF)and opencircuit voltage(VOC)deficits.Herein,an in-situ self-crosslinking strategy is proposed to construct high-performance inverted inorganic PSCs by incorporating acrylate monomers as additives into CsPbI_(3)perovskite precursors.During the thermal annealing process of perovskite films,acrylate monomers can form network structures by breaking the C=C groups through an in-situ polymerization reaction,mainly anchored at the grain boundaries(GBs)and on the surfaces of perovskite.Meanwhile,the C=O groups of acrylate polymers can favorably coordinate with uncoordinated Pb^(2+),thereby decreasing defect density and stabilizing the perovskite phase.Particularly,with multiple crosslinking and passivation sites,the incorporation of dipentaerythritol pentaacrylate(DPHA)can effectively improve the perovskite film quality,suppress nonradiative recombination,and block moisture erosion.Consequently,the DPHAbased PSC achieves a champion PCE of 20.05%with a record-high FF of 85.05%,both of which rank among the top in the performance of inverted CsPbI_(3)PSCs.Moreover,the unencapsulated DPHA-based device exhibits negligible hysteresis,remarkably improved long-term storage,and operational stability.This work offers a facile and useful strategy to simultaneously promote the efficiency and device stability of inverted inorganic PSCs.展开更多
The stability of perovskite solar cells(PSCs)is adversely affected by nonradiative recombination resulting from buried interface defects.Herein,we synthesize a polyionic liquid,poly(p-vinylbenzyl trimethylam-monium he...The stability of perovskite solar cells(PSCs)is adversely affected by nonradiative recombination resulting from buried interface defects.Herein,we synthesize a polyionic liquid,poly(p-vinylbenzyl trimethylam-monium hexafluorophosphate)(PTA),and introduce it into the buried interface of PSCs.The quaternary ammonium cation(N(-CH_(3))^(3+))in PTA can fill the vacancies of organic cations within the perovskite structure and reduce shallow energy level defects.Additionally,the hexafluorophosphate(PF6−)in PTA forms a Lewis acid-base interaction with Pb^(2+)in the perovskite layer,effectively passivating deep en-ergy level defects.Furthermore,hydrogen bonding can be established between organic cations and the PF6−anion,preventing the formation of shallow energy level defects.Through this synergistic mecha-nism,the deep and shallow energy level defects are effectively mitigated,resulting in improved device performance.As a result,the resulting treated inverted PSC exhibits an impressive power conversion ef-ficiency(PCE)of 24.72%.Notably,the PTA-treated PSCs exhibit remarkable stability,with 88.5%of the original PCE retained after undergoing heat aging at 85℃ for 1078 h,and 89.1%of the initial PCE main-tained following continuous exposure to light for 1100 h at the maximum power point.Synergistically suppressing multiple defects at the buried interface through the use of polyionic liquids is a promising way to improve the commercial viability of PSCs.展开更多
Primary sellar atypical teratoid/rhabdoid tumor(AT/RT)is the most aggressive sellar mass.Although rare,sellar AT/RT exhibits a very relentless clinical course and usually results in death within months to a few years ...Primary sellar atypical teratoid/rhabdoid tumor(AT/RT)is the most aggressive sellar mass.Although rare,sellar AT/RT exhibits a very relentless clinical course and usually results in death within months to a few years after diagnosis.The best clinical evidence suggests that surgical debulking and timely adjuvant chemoradiation are most effective in prolonging survival.A preoperative radiological diagnosis of sellar AT/RT thus is crucial in informing patients and physicians about this devastating disease.This minireview summaries the imaging features of sellar AT/RT.magnetic resonance imaging features of sellar AT/RT and the much more common sellar mass,pituitary macroadenoma,are similar in most aspects:They are both isointense to brain gray matter on T1 and T2 imaging and enhance upon gadolinium administration.Suprasellar extension and cavernous sinus invasion are present in practically all cases of sellar AT/RT,but are also present in 50%-75%of pituitary macroadenomas,especially in large ones,suggesting that suprasellar extension and cavernous sinus invasion disproportionate to the tumor size may favor sellar AT/RT diagnosis.Since sellar AT/RT grows very rapidly and does not allow significant remodeling of perisellar structures,the imaging features of perisellar structures such as optic chiasm and cavernous sinus may be key for imaging diagnosis of sellar AT/RT although they have not been well described in sellar AT/RT.In limited cases of sellar AT/RT,optic chiasm degeneration and thinning,which are very common in pituitary macroadenoma,are not present,giving hope for using features of perisellar structures to diagnose sellar AT/RT by imaging.展开更多
The tensile strain in inorganic perovskite films induced by thermal annealing is one of the primary factors contributing to the inefficiency and instability of inorganic perovskite solar cells(IPSCs),which reduces the...The tensile strain in inorganic perovskite films induced by thermal annealing is one of the primary factors contributing to the inefficiency and instability of inorganic perovskite solar cells(IPSCs),which reduces the defect formation energy.Here,a flexible molecule 5-maleimidovaleric acid(5-MVA)was introduced as a strain buffer to release the residual strain of CsPbI_(2.85)Br_(0.15)perovskite.Maleic anhydride and carboxyl groups in 5-MVA interact strongly with the uncoordinated Pb^(2+)through Lewis acid-base reaction,thus tightly“pull”the perovskite lattice.The in-between soft carbon chain increased the structural flexibility of CsPbI_(2.85)Br_(0.15)perovskite materials,which effectively relieved the intrinsic internal strain of CsPbI_(2.85)Br_(0.15),resisted the corrosion of external strain,and also reduced the formation of defects such as VIand Pb0.In addition,the introduction of 5-MVA improved crystal quality,passivated residual defects,and narrowed energy level barriers.Eventually,power conversion efficiency(PCE)of NiOxbased inverted IPSCs increased from 19.25%to 20.82%with the open-circuit voltage enhanced from 1.164 V to 1.230 V.The release of strain also improved the stability of CsPbI_(2.85)Br_(0.15)perovskite films and devices.展开更多
Self-assembled monolayers(SAMs),owing to their amphiphilic nature,tend to aggregate,which impedes the formation of a dense and uniform SAM on the substrate.Additionally,the weak adsorption ability of SAMs on the indiu...Self-assembled monolayers(SAMs),owing to their amphiphilic nature,tend to aggregate,which impedes the formation of a dense and uniform SAM on the substrate.Additionally,the weak adsorption ability of SAMs on the indium tin oxide(ITO)surface and the desorption of hydroxyl(OH)from the ITO surface induced by polar solvents can lead to the formation of vacancies.Herein,a dimethylacridine-based SAM is incorporated into the perovskite precursor solution.This SAM can be extruded from the precursor solution and enriched on the bottom surface of the perovskite,filling the vacancies and in situ forming a mixed SAM with MeO-2PACz as a hole-selective layer(HSL).The in situ formed mixed SAM optimizes the energy level alignment between the HSL and the perovskite,facilitating hole extraction and alleviating the residual strain of the perovskite film.Consequently,the perovskite solar cells(PSCs),based on the mixed SAM,achieve a power conversion efficiency(PCE)of 25.69%and exhibit excellent operational stability.When this approach is applied to 1.78 eV bandgap PSC devices,it yields a PCE of 20.08%.This work presents a unique strategy for fabricating both high-quality perovskite films and superior buried interfaces,which is also applicable to wide-bandgap PSCs.展开更多
In this study,a dynamic model for an inverted pendulum system(IPS)attached to a car is created,and two different control methods are applied to control the system.The designed control algorithms aim to stabilize the p...In this study,a dynamic model for an inverted pendulum system(IPS)attached to a car is created,and two different control methods are applied to control the system.The designed control algorithms aim to stabilize the pendulum arms in the upright position and the car to reach the equilibrium position.Grey Wolf Optimization-based Linear Quadratic Regulator(GWO-LQR)and GWO-based Fuzzy LQR(FLQR)control algorithms are used in the control process.To improve the performance of the LQR and FLQR methods,the optimum values of the coefficients corresponding to the foot points of the membership functions are determined by the GWO algorithm.Both a graphic and a numerical analysis of the outcomes are provided.In the comparative analysis,it is observed that the GWO-based FLQR method reduces the settling time by 22.58% and the maximum peak value by 18.2% when evaluated in terms of the angular response of the pendulum arm.Furthermore,this approach outperformed comparable research in the literature with a settling time of 2.4 s.These findings demonstrate that the suggested GWO-based FLQR controlmethod outperforms existing literature in terms of the time required for the pendulum arm to reach equilibrium.展开更多
Support and maintenance of tunnel excavations during operation are critical to ensure the safety and stability of tunnels.This study proposes a specialized support technology for a railroad tunnel in western China,cha...Support and maintenance of tunnel excavations during operation are critical to ensure the safety and stability of tunnels.This study proposes a specialized support technology for a railroad tunnel in western China,characterized by substantial deformation and a limited inherent self-stabilizing capacity.The method involves the application of a foam concrete compressible layer at the inverted arch of the tunnel.The effectiveness of the foam concrete layer in mitigating the effect of the surrounding rock on the tunnel inverted arch structure is investigated by a combination of indoor tests and numerical simulations.The laboratory test results show that the train load has little effect on the compressive performance of the foamed concrete compressible layer,which indicates that the foamed concrete compressible layer can be applied in the tunnel invert.By analyzing the support effect of the established model,it is found that the foam concrete compressible layer can effectively absorb the deformation pressure generated by the surrounding rock and protect the secondary lining structure,when the compressible layer density is 500 kg/m^(3) and the thickness is set to 20 cm,the supporting effect is the best.展开更多
BACKGROUND Rett syndrome is a monogenic X-linked dominant condition that affects 1/(10000-15000)girls due to de novo mutations in the methyl-CpG binding protein 2(MECP2)gene mapped to chromosome Xq28.The disease-causi...BACKGROUND Rett syndrome is a monogenic X-linked dominant condition that affects 1/(10000-15000)girls due to de novo mutations in the methyl-CpG binding protein 2(MECP2)gene mapped to chromosome Xq28.The disease-causing gene was identified as a mutation in the MECP2 gene,which is found in approximately 80%of patients diagnosed with Rett syndrome.Although chromosomal changes resulting in del(15)(q11q13)are usually associated with Angelman and Prader-Willi syndrome,very few cases,if any,of Rett syndrome with terminal 15q22-qter deletion have been published in English literature.CASE SUMMARY In this study,we report an unusual and rare clinical presentation of Rett syndrome in a 12-year-old Sudanese girl.The patient was brought in by her parents,complaining of gradual onset of abnormal walking,abnormal hand movement,loss of speech,and mental retardation for ten years.There was no reported history of convulsions or loss of consciousness.Clinical examination revealed microcephaly with no other apparent dysmorphic features,intact cranial nerves,and abnormal gait.She showed repetitive and stereotyped behaviors,including hand flapping,stimming,and chest pounding,which were concomitant with autism spectrum disorder.Magnetic resonance imaging and electroencephalography investigations were normal,and cytogenetic analysis showed 46,XX,del(15)(q22qter).Further molecular analysis using whole sequencing of MECP2 revealed an alteration cytosine>thymine at nucleotide 401,leading to phenylalanine replacing a serine at amino acid position 134.CONCLUSION This case,the first reported instance of Rett syndrome in Sudan,is of significant interest.The patient carries both the MECP2 gene mutation and the chromosome 15q22-qter deletion,which may explain the autistic behavior with atypical presentation of Rett syndrome.This report expands the genetic diversity of Rett syndrome,demonstrating how co-occurring 15q22-qter deletions can reshape MECP2-associated phenotypes in Rett syndrome.展开更多
文摘BACKGROUND Atypical optic neuritis,consisting of neuromyelitis optica spectrum disorders(NMOSD)or myelin oligodendrocyte glycoprotein antibody disease(MOGAD),has a very similar presentation but different prognostic implications and longterm management strategies.Vascular and metabolic factors are being thought to play a role in such autoimmune neuro-inflammatory disorders,apart from the obvious immune mediated damage.With the advent of optical coherence tomography angiography(OCTA),it is easy to pick up on these subclinical macular microvascular and structural changes.AIM To study the macular microvascular and structural changes on OCTA in atypical optic neuritis.METHODS This observational cross-sectional study involved 8 NMOSD and 17 MOGAD patients,diagnosed serologically,as well as 10 healthy controls.Macular vascular density(MVD)and ganglion cell+inner plexiform layer thickness(GCIPL)were studied using OCTA.RESULTS There was a significant reduction in MVD in NMOSD and MOGAD affected as well as unaffected eyes when compared with healthy controls.NMOSD and MOGAD affected eyes had significant GCIPL thinning compared with healthy controls.NMOSD unaffected eyes did not show significant GCIPL thinning compared to healthy controls in contrast to MOGAD unaffected eyes.On comparing NMOSD with MOGAD,there was no significant difference in terms of MVD or GCIPL in the affected or unaffected eyes.CONCLUSION Although significant microvascular and structural changes are present on OCTA between atypical optic neuritis and normal patients,they could not help in differentiating between NMOSD and MOGAD cases.
文摘Introduction: Crohn’s Disease (CD) is a chronic inflammatory disorder with a heterogeneous presentation. While diarrhea, abdominal pain, and weight loss are hallmarks, atypical manifestations can obscure the diagnosis. This report highlights an unusual presentation of CD to emphasize the need for comprehensive diagnostic strategies. Case Report: A 25-year-old male presented with peripheral edema, anorexia, and abdominal distension but lacked classic gastrointestinal (GI) symptoms. Laboratory findings included microcytic anemia and hypoalbuminemia, while imaging revealed ascites and bowel wall thickening. Elevated fecal calprotectin and positive Anti-Saccharomyces cerevisiae antibodies (ASCA) supported the diagnosis. Endoscopy confirmed ileocolic Crohn’s Disease (L3 + L4). Infliximab therapy resulted in marked clinical improvement. Discussion: This case underscores the complexity of atypical CD presentations. Early use of serological markers, imaging, and endoscopy guided the diagnosis. Recognition of CD’s diverse manifestations is critical for timely intervention. Conclusion: Atypical CD presentations require heightened clinical suspicion and a multidisciplinary approach to reduce diagnostic delays and improve patient outcomes.
文摘Hydatid disease,caused by the Echinococcus granulosus parasite,is traditionally associated with liver and lung involvement.However,recent years have seen an increase in cases with atypical localizations,such as the kidneys,thyroid,soft tissues,and bones.The study by Celik et al presents a series of five clinical cases where hydatid cysts were found in these rare anatomical regions,challenging conventional diagnostic and therapeutic approaches.The paper emphasizes the importance of differential diagnosis,as these cases can mimic other conditions,such as cancer,abscesses,or cysts.Advanced imaging techniques,such as com-puted tomography,magnetic resonance imaging,and ultrasound,play a crucial role in accurate diagnosis and help avoid misdiagnosis.The study demonstrates that early diagnosis and appropriate treatment of echinococosis in atypical localiz-ations are critical for preventing complications like cyst rupture and secondary infections.The use of albendazole and surgical intervention,especially in combi-nation with modern imaging techniques,yields good outcomes in these patients.However,several unanswered questions remain:What are the precise criteria for selecting the optimal treatment method in each case?What is the long-term effect-iveness of different approaches?Do patients with hydatid cysts in atypical lo-cations require additional monitoring and preventive treatment to avoid recu-rrence?Addressing these questions requires further research,and a multidisci-plinary approach involving radiologists,surgeons,and infectious disease spe-cialists is essential to optimize diagnosis and treatment.Early and accurate diagnostic methods based on differential diagnosis play a key role in improving treatment outcomes and reducing morbidity.
文摘Hepatitis A virus(HAV)infection remains a significant public health concern in many developing countries.The annual incidence of HAV infection is 1.5 million,though this figure may be underestimated owing to the infection’s asymptomatic nature and the presence of milder disease variants.The clinical spectrum of HAV infection now ranges from asymptomatic infection to fulminant hepatitis.Despite the availability of safe and highly effective vaccines,HAV infections remain a major contributor to acute viral hepatitis worldwide.
文摘BACKGROUND Hydatid cyst disease,caused by Echinococcus granulosus,primarily affects the liver and lungs,but it can also develop in rare locations such as the kidneys,thyroid,subcutaneous tissues,bones,and the mediastinum.These atypical presentations often pose diagnostic challenges,as they can mimic benign and malignant pathologies,leading to potential misdiagnoses and inappropriate treatments.Early and accurate detection of hydatid cysts in uncommon sites is crucial for optimal patient management.CASE SUMMARY This case report series presents five patients with hydatid cysts located in atypical anatomical regions:The kidney,lumbar subcutaneous tissue,gluteal soft tissue,posterior mediastinum,and thyroid gland.The patients exhibited diverse clinical symptoms,including hematuria,palpable masses,localized pain,and chronic cough.Diagnosis was confirmed through a combination of imaging techniquesultrasound,computed tomography,and magnetic resonance imaging-along with serological testing.All cases were managed with antiparasitic therapy(albendazole),and in selected cases,surgical excision was performed to prevent complications such as cyst rupture or secondary infections.Post-treatment follow-up demonstrated complete resolution or stable cystic lesions,with no signs of recurrence.CONCLUSION Recognizing hydatid cysts in atypical locations is essential to avoid misdiagnosis and ensure appropriate treatment strategies.Radiological imaging plays a key role in distinguishing hydatid cysts from other cystic and neoplastic conditions,while serological tests can aid in confirmation,particularly in endemic regions.A multidisciplinary approach,integrating radiology,clinical evaluation,and surgical expertise,is critical for effective diagnosis and management.This report highlights the need for increased awareness of extrapulmonary and extravisceral hydatid disease,emphasizing its significance in differential diagnosis and clinical practice.
文摘BACKGROUND Atypical depression is an important indicator of a high risk of bipolar disorder and a genetic predisposition to immunometabolic traits.AIM To analyze common depression assessment scales for their inclusion of items related to atypical symptoms such as mood reactivity,hypersomnia,increased appetite(or weight gain),leaden paralysis,and interpersonal sensitivity.METHODS A search for English-language articles was conducted without time restrictions in the MEDLINE and Russian Science Citation Index databases using the following keywords:“depression”OR“bipolar depression”AND“scales”OR“questionnaires”.The analytical method used in this review involved a descriptive analysis of the included studies.RESULTS After reviewing studies on the validation of depression assessment scales,we found that only a small number include items addressing both increases and decreases in appetite or weight,as well as variations in sleep duration.Moreover,only a few studies have evaluated mood reactivity,leaden paralysis,and interpersonal sensitivity.The most well-developed scale that considers all aspects of atypical and non-atypical depressions is the Inventory of Depressive Symptomatology.CONCLUSION Ignoring atypical symptoms in common scales can lead to underestimation of depression severity and inaccuracies in evaluating therapy effectiveness in clinical trials, as well as hinder fundamental research aimed at finding biomarkers.
基金supported by the Natural Science Foundation of China(22425903,U24A20568,61705102,62288102,22409091,22409090 and 62205142)the National Key R&D Program of China(2023YFB4204500)the Jiangsu Provincial Departments of Science and Technology(BE2022023,BK20220010,BZ2023060,BK20240561,and BK20240562)。
文摘Inverted p-i-n perovskite solar cells(PSCs)based on self-assembled monolayers(SAMs)as hole-selective layers(HSLs)have produced potential record efficiencies of more than 26%by tuning work function,dipole,and passivation defects.However,the stability of the SAM molecules,the stability of the molecular anchoring conformation,and the impact on the stability of subsequent PSCs have not been clearly elucidated.In this review,we systematically discussed the intrinsic connection between the molecular conformation(including anchoring groups,spacer groups,and terminal groups)and the stability of SAMs.Sequentially,the research progress of SAMs as HSLs in improving the stability of PSCs is summarized,including photostability,thermal stability,ion migration,and residual stress.Finally,we look forward to the shortcomings and possible challenges of using SAMs as HSLs for inverted PSCs.
基金supported by the National Natural Science Foundation of China under Grant Nos.12275078,11875026,12035005,2020YFC2201400the innovative research group of Hunan Province under Grant No.2024JJ1006。
文摘We use out-of-time order correlators(OTOCs)to investigate the quantum instability and Ehrenfest time for an inverted harmonic oscillator(IHO).For initial states located in the stable manifolds of the IHO we find that the corresponding OTOC exhibits identical evolutionary characteristics to the saddle point before the Ehrenfest time.For initial states located in the unstable manifolds,the OTOCs still grow exponentially but the time to maintain exponential growth is related to the center position of its wave packet in phase space.Moreover,we use the Husimi Q function to visualize the quantum wave packets during exponential growth of the OTOCs.Our results show that quantum instability exists at arbitrary orbits in the IHO system,and the Ehrenfest time in the IHO system depends not only on the photon number of the initial system but also on the central positions of the initial states in phase space.
基金supported by the National Key R&D Program of China(2022YFE0118400)the National Natural Science Foundation of China(6217520)+1 种基金the Science and Technology Project of Fujian Province of China(2021H6018)the Natural Science Foundation of Fujian Province of China(2021J06009)。
文摘Flexible perovskite solar cells(fPSCs)have demonstrated commercial viability because of their promising lightness,flexibility,and low-cost advantages.However,in most applications,the fPSCs suffer from constant external stress,such as being kept at a convex bending state,imposing external stress on the brittle perovskite films and causing the fPSCs long-term stability problems.Overcoming these issues is vital.Herein,we propose an effective way to enhance the stability of the fPSCs under convex bending by modulating the residual stress of perovskite film for the first time.Specifically,we have carefully designed a synergistic strain engineering to toughen the perovskite films by introducing 1-butyl-3-methylimidazolium tetrafluoroborate,citric acid,and a novel cross-linker,5-(1,2-dithiolan-3-yl)pentanoate into perovskite films simultaneously.Besides passivating the perovskite films,the multiple additives effectively convert the residual stress within the perovskite films from tensile to compressive type to alleviate the detrimental impact of bending on the flexible perovskite films.As a result,the optimal efficiencies of triple-additive modified fPSCs have achieved 22.19%(0.06 cm^(2))and 19.44%(1.02 cm^(2)).More importantly,the strategy could significantly improve the stability of the perovskite films and fPSCs at a convex bending state.Our approach is inductive for the future practical field applications of high-performance fPSCs.
基金financial support provided by the Sichuan Science and Technology Program(No.2022NSFSC0226)Sichuan Science and Technology Program(No.2023ZYD0163)+6 种基金the Production-Education Integration Demonstration Project of Sichuan Provincethe Photovoltaic Industry Production-Education Integration Comprehensive Demonstration Base of Sichuan Province(Sichuan Financial Education[2022]No.106)China Tianfu Yongxing Laboratory Science and Technology Key Project(2023KJGG15)National Key Research and Development Program of China(2022YFB3803300)Beijing Natural Science Foundation(IS23037)the Department for Energy Security and Net Zero(project ID:NEXTCCUS)the ACT program(Accelerating CCS Technologies,Horizon2020 project NO.691712)。
文摘The 2D/3D heterojunction perovskites have garnered increasing attention due to their exceptional moisture and thermal stability.However,few works have paid attention to the influence of the subsequent change process of 2D/3D heterojunction PSC on the stability of PSCs.Moreover,the evolution of the interface and carrier dynamic behavior of the 2D/3D perovskite films with long-term operation has not been systematically developed befo re.In this work,the effects of 2D/3 D heterojunction evolution on the interface of perovskite films and different carrier dynamics during 2D/3D evolution are systematically analyzed for the first time.The decomposition of 2D/3D heterojunction in the perovskite film will have a certain impact on the surface and carrier dynamics behavior of perovskite.During the evolution of 2D/3D heterojunction,PbI_(2)crystals will appear,which will improve the interfacial energy level matching between the electron transport layer and perovskite film.With a long evolution time,some holes will appear on the surface of perovskite film.The open circuit voltage(V_(OC))of PSCs increased from 1.14 to1.18 V and the PCE increased to 23.21%after 300 h storage in the nitrogen atmosphere,and maintained 89%initial performance for with 3000 h stability test in N_(2)box.This discovery has a significant role in promoting the development of inverted heterojunction PSCs and constructing the revolution mechanism of charge carrier dynamic.
文摘The predominance of pituitary adenoma in the etiology of sellar masses often leads to the diagnostic fallacy of“availability bias”so that pituitary adenoma is almost always considered the most likely diagnosis of all sellar masses,even when clinical evidence suggests otherwise.Primary sellar atypical teratoid/rhabdoid tumor(AT/RT)is the most aggressive sellar tumor.Most patients with sellar AT/RT are initially misdiagnosed with pituitary macroadenoma.Early diagnosis of sellar AT/RT is of paramount importance to counsel patients and family on the grave prognosis and to avoid futile surgical procedures.Since there are no discerning imaging features to differentiate AT/RT from other sellar tumors,the acuity of sellar compression symptoms characteristic of AT/RT is the only evidence indicative of the AT/RT diagnosis.Based on the biological and anatomical properties of the sella turcica and its surrounding structures,the nature,order of manifestation,and acuity of the sellar compression symptoms in response to sellar content expansion are mostly predictable.It is concluded that rapidly progressive headache and subsequent similarly rapidly progressive visual symptoms in a female with a large sellar mass are pathognomonic of sellar AT/RT(the“Yu rule”).
基金supported by the Program for Science and Technology Innovation Team in Zhejiang(Grant No.2021R01004)the Natural Science Foundation of Ningbo City(No.2023J119)+1 种基金the Ningbo Youth Science and Technology Innovation Leading Talent Project(2023QL029)K.C.Wong Magna Fund in Ningbo University,China。
文摘Inorganic CsPbI_(3)perovskite with superior thermal stability and photoelectric properties has developed into a promising candidate for photovoltaic applications.Nevertheless,the power conversion efficiency(PCE)of CsPbI_(3)perovskite solar cells(PSCs)still lags far behind that of both organic-inorganic hybrid counterparts and the theoretical PCE limit,primarily restricted by severe fill factor(FF)and opencircuit voltage(VOC)deficits.Herein,an in-situ self-crosslinking strategy is proposed to construct high-performance inverted inorganic PSCs by incorporating acrylate monomers as additives into CsPbI_(3)perovskite precursors.During the thermal annealing process of perovskite films,acrylate monomers can form network structures by breaking the C=C groups through an in-situ polymerization reaction,mainly anchored at the grain boundaries(GBs)and on the surfaces of perovskite.Meanwhile,the C=O groups of acrylate polymers can favorably coordinate with uncoordinated Pb^(2+),thereby decreasing defect density and stabilizing the perovskite phase.Particularly,with multiple crosslinking and passivation sites,the incorporation of dipentaerythritol pentaacrylate(DPHA)can effectively improve the perovskite film quality,suppress nonradiative recombination,and block moisture erosion.Consequently,the DPHAbased PSC achieves a champion PCE of 20.05%with a record-high FF of 85.05%,both of which rank among the top in the performance of inverted CsPbI_(3)PSCs.Moreover,the unencapsulated DPHA-based device exhibits negligible hysteresis,remarkably improved long-term storage,and operational stability.This work offers a facile and useful strategy to simultaneously promote the efficiency and device stability of inverted inorganic PSCs.
基金supported by the Science,Technology,and Innovation Commission of Shenzhen Municipality(No.GJHZ20220913143204008)the Shccig-Qinling Program(No.SMYJY202300294C)+3 种基金National Natural Science Foundation of China(Nos.22261142666,52372225,52172237,22305191)the Shaanxi Science Fund for Distinguished Young Scholars(No.2022JC-21)the Research Fund of the State Key Laboratory of Solidification Processing(NPU)China(No.2021-QZ-02).
文摘The stability of perovskite solar cells(PSCs)is adversely affected by nonradiative recombination resulting from buried interface defects.Herein,we synthesize a polyionic liquid,poly(p-vinylbenzyl trimethylam-monium hexafluorophosphate)(PTA),and introduce it into the buried interface of PSCs.The quaternary ammonium cation(N(-CH_(3))^(3+))in PTA can fill the vacancies of organic cations within the perovskite structure and reduce shallow energy level defects.Additionally,the hexafluorophosphate(PF6−)in PTA forms a Lewis acid-base interaction with Pb^(2+)in the perovskite layer,effectively passivating deep en-ergy level defects.Furthermore,hydrogen bonding can be established between organic cations and the PF6−anion,preventing the formation of shallow energy level defects.Through this synergistic mecha-nism,the deep and shallow energy level defects are effectively mitigated,resulting in improved device performance.As a result,the resulting treated inverted PSC exhibits an impressive power conversion ef-ficiency(PCE)of 24.72%.Notably,the PTA-treated PSCs exhibit remarkable stability,with 88.5%of the original PCE retained after undergoing heat aging at 85℃ for 1078 h,and 89.1%of the initial PCE main-tained following continuous exposure to light for 1100 h at the maximum power point.Synergistically suppressing multiple defects at the buried interface through the use of polyionic liquids is a promising way to improve the commercial viability of PSCs.
文摘Primary sellar atypical teratoid/rhabdoid tumor(AT/RT)is the most aggressive sellar mass.Although rare,sellar AT/RT exhibits a very relentless clinical course and usually results in death within months to a few years after diagnosis.The best clinical evidence suggests that surgical debulking and timely adjuvant chemoradiation are most effective in prolonging survival.A preoperative radiological diagnosis of sellar AT/RT thus is crucial in informing patients and physicians about this devastating disease.This minireview summaries the imaging features of sellar AT/RT.magnetic resonance imaging features of sellar AT/RT and the much more common sellar mass,pituitary macroadenoma,are similar in most aspects:They are both isointense to brain gray matter on T1 and T2 imaging and enhance upon gadolinium administration.Suprasellar extension and cavernous sinus invasion are present in practically all cases of sellar AT/RT,but are also present in 50%-75%of pituitary macroadenomas,especially in large ones,suggesting that suprasellar extension and cavernous sinus invasion disproportionate to the tumor size may favor sellar AT/RT diagnosis.Since sellar AT/RT grows very rapidly and does not allow significant remodeling of perisellar structures,the imaging features of perisellar structures such as optic chiasm and cavernous sinus may be key for imaging diagnosis of sellar AT/RT although they have not been well described in sellar AT/RT.In limited cases of sellar AT/RT,optic chiasm degeneration and thinning,which are very common in pituitary macroadenoma,are not present,giving hope for using features of perisellar structures to diagnose sellar AT/RT by imaging.
基金financial support of National Key Research and Development Program of China(Grant No.2022YFB04200302)joint funds of National Natural Science Foundation of China(Grant No.62104115)+5 种基金National Natural Science Foundation of China(Grant No.U21A2072)Overseas Expertise Introduction Project for Discipline Innovation of Higher Education of China(Grant No.B16027)Key R&D Program of Hebei Province(No.19214301D)Yunnan Provincial Science and Technology Project at Southwest United Graduate School(No.202302A0370009)Haihe Laboratory of Sustainable Chemical TransformationsFundamental Research Funds for the Central Universities,Nankai University。
文摘The tensile strain in inorganic perovskite films induced by thermal annealing is one of the primary factors contributing to the inefficiency and instability of inorganic perovskite solar cells(IPSCs),which reduces the defect formation energy.Here,a flexible molecule 5-maleimidovaleric acid(5-MVA)was introduced as a strain buffer to release the residual strain of CsPbI_(2.85)Br_(0.15)perovskite.Maleic anhydride and carboxyl groups in 5-MVA interact strongly with the uncoordinated Pb^(2+)through Lewis acid-base reaction,thus tightly“pull”the perovskite lattice.The in-between soft carbon chain increased the structural flexibility of CsPbI_(2.85)Br_(0.15)perovskite materials,which effectively relieved the intrinsic internal strain of CsPbI_(2.85)Br_(0.15),resisted the corrosion of external strain,and also reduced the formation of defects such as VIand Pb0.In addition,the introduction of 5-MVA improved crystal quality,passivated residual defects,and narrowed energy level barriers.Eventually,power conversion efficiency(PCE)of NiOxbased inverted IPSCs increased from 19.25%to 20.82%with the open-circuit voltage enhanced from 1.164 V to 1.230 V.The release of strain also improved the stability of CsPbI_(2.85)Br_(0.15)perovskite films and devices.
基金supported by the Young Cross Team Project of CAS(No.JCTD-2021-14)the National Natural Science Foundation of China(51925206)Gusu Innovation and Entrepreneur Leading Talents(ZXL2022466)。
文摘Self-assembled monolayers(SAMs),owing to their amphiphilic nature,tend to aggregate,which impedes the formation of a dense and uniform SAM on the substrate.Additionally,the weak adsorption ability of SAMs on the indium tin oxide(ITO)surface and the desorption of hydroxyl(OH)from the ITO surface induced by polar solvents can lead to the formation of vacancies.Herein,a dimethylacridine-based SAM is incorporated into the perovskite precursor solution.This SAM can be extruded from the precursor solution and enriched on the bottom surface of the perovskite,filling the vacancies and in situ forming a mixed SAM with MeO-2PACz as a hole-selective layer(HSL).The in situ formed mixed SAM optimizes the energy level alignment between the HSL and the perovskite,facilitating hole extraction and alleviating the residual strain of the perovskite film.Consequently,the perovskite solar cells(PSCs),based on the mixed SAM,achieve a power conversion efficiency(PCE)of 25.69%and exhibit excellent operational stability.When this approach is applied to 1.78 eV bandgap PSC devices,it yields a PCE of 20.08%.This work presents a unique strategy for fabricating both high-quality perovskite films and superior buried interfaces,which is also applicable to wide-bandgap PSCs.
文摘In this study,a dynamic model for an inverted pendulum system(IPS)attached to a car is created,and two different control methods are applied to control the system.The designed control algorithms aim to stabilize the pendulum arms in the upright position and the car to reach the equilibrium position.Grey Wolf Optimization-based Linear Quadratic Regulator(GWO-LQR)and GWO-based Fuzzy LQR(FLQR)control algorithms are used in the control process.To improve the performance of the LQR and FLQR methods,the optimum values of the coefficients corresponding to the foot points of the membership functions are determined by the GWO algorithm.Both a graphic and a numerical analysis of the outcomes are provided.In the comparative analysis,it is observed that the GWO-based FLQR method reduces the settling time by 22.58% and the maximum peak value by 18.2% when evaluated in terms of the angular response of the pendulum arm.Furthermore,this approach outperformed comparable research in the literature with a settling time of 2.4 s.These findings demonstrate that the suggested GWO-based FLQR controlmethod outperforms existing literature in terms of the time required for the pendulum arm to reach equilibrium.
基金supported by the National Natural Science Foundation of China under grant number 52179113Open Research Fund of State Key Laboratory of Geomechanics and Geotechnical Engineering Safety Grant No.SKLGME 022022,SKLGME-JBGS2401.
文摘Support and maintenance of tunnel excavations during operation are critical to ensure the safety and stability of tunnels.This study proposes a specialized support technology for a railroad tunnel in western China,characterized by substantial deformation and a limited inherent self-stabilizing capacity.The method involves the application of a foam concrete compressible layer at the inverted arch of the tunnel.The effectiveness of the foam concrete layer in mitigating the effect of the surrounding rock on the tunnel inverted arch structure is investigated by a combination of indoor tests and numerical simulations.The laboratory test results show that the train load has little effect on the compressive performance of the foamed concrete compressible layer,which indicates that the foamed concrete compressible layer can be applied in the tunnel invert.By analyzing the support effect of the established model,it is found that the foam concrete compressible layer can effectively absorb the deformation pressure generated by the surrounding rock and protect the secondary lining structure,when the compressible layer density is 500 kg/m^(3) and the thickness is set to 20 cm,the supporting effect is the best.
文摘BACKGROUND Rett syndrome is a monogenic X-linked dominant condition that affects 1/(10000-15000)girls due to de novo mutations in the methyl-CpG binding protein 2(MECP2)gene mapped to chromosome Xq28.The disease-causing gene was identified as a mutation in the MECP2 gene,which is found in approximately 80%of patients diagnosed with Rett syndrome.Although chromosomal changes resulting in del(15)(q11q13)are usually associated with Angelman and Prader-Willi syndrome,very few cases,if any,of Rett syndrome with terminal 15q22-qter deletion have been published in English literature.CASE SUMMARY In this study,we report an unusual and rare clinical presentation of Rett syndrome in a 12-year-old Sudanese girl.The patient was brought in by her parents,complaining of gradual onset of abnormal walking,abnormal hand movement,loss of speech,and mental retardation for ten years.There was no reported history of convulsions or loss of consciousness.Clinical examination revealed microcephaly with no other apparent dysmorphic features,intact cranial nerves,and abnormal gait.She showed repetitive and stereotyped behaviors,including hand flapping,stimming,and chest pounding,which were concomitant with autism spectrum disorder.Magnetic resonance imaging and electroencephalography investigations were normal,and cytogenetic analysis showed 46,XX,del(15)(q22qter).Further molecular analysis using whole sequencing of MECP2 revealed an alteration cytosine>thymine at nucleotide 401,leading to phenylalanine replacing a serine at amino acid position 134.CONCLUSION This case,the first reported instance of Rett syndrome in Sudan,is of significant interest.The patient carries both the MECP2 gene mutation and the chromosome 15q22-qter deletion,which may explain the autistic behavior with atypical presentation of Rett syndrome.This report expands the genetic diversity of Rett syndrome,demonstrating how co-occurring 15q22-qter deletions can reshape MECP2-associated phenotypes in Rett syndrome.
