Dynamic ultrasonography for optimizing treatment position in superior mesenteric artery syndrome:Two case reports and review of literature

BACKGROUND Superior mesenteric artery(SMA)syndrome is a rare cause of duodenal obstruction by extrinsic compression between the SMA and the aorta(SMA-Ao).Although the left lateral recumbent position is considered effective in the treatment of SMA syndrome,individual variations in the optimal patient position have been noted.In this report,we present two elderly cases of SMA syndrome that exhibited rapid recovery due to ultrasonographic dynamic evaluation of the optimal position for each patient.CASE SUMMARY Case 1:A 90-year-old man with nausea and vomiting.Following diagnosis of SMA syndrome by computed tomography(CT),ultrasonography(US)revealed the SMA-Ao distance in the supine position(4 mm),which slightly improved in the lateral position(5.7–7.0 mm)without the passage of duodenal contents.However,in the sitting position,the SMA-Ao distance was increased to 15 mm accompanied by improved content passage.Additionally,US indicated enhanced passage upon abdominal massage on the right side.By day 2,the patient could eat comfortably with the optimal position and massage.Case 2:An 87-year-old woman with vomiting.After the diagnosis of SMA syndrome and aspiration pneumonia by CT,dynamic US confirmed the optimal position(SMA-Ao distance was improved to 7 mm in forward-bent position,whereas it remained at 5 mm in the supine position).By day 7 when her pneumonia recovered,she could eat with the optimal position.CONCLUSION The optimal position for SMA syndrome varies among individuals.Dynamic US appears to be a valuable tool in improving patient outcomes.

Orthopedic manifestations of Li-Fraumeni syndrome:Prevention and treatment of a polymorphic spectrum of malignancies

Li-Fraumeni syndrome(LFS)is a rare hereditary cancer predisposition syndrome characterized by a heightened risk of developing various malignancies at an early age.Emerging evidence suggests a correlation between LFS and orthopedic manifestations,underscoring the importance of orthopedic screening in individuals with this syndrome.Pediatric cancer is rare.It is estimated that more than 10%-15%of tumors are secondary to a pathogenic variant in a cancer predisposition gene.More than 100 cancer predisposition genes and their association with syndromes or isolated tumors have been identified.LFS is one of those who have been most widely described.Patients with this syndrome present a high risk of developing one or more tumors.Its knowledge enables the establishment of a follow-up protocol for the patient and affected family members,facilitating early detection of new tumors and reducing tumor and treatment-related morbidity and mortality.The primary objective of this invited editorial article is to provide a thorough review of the existing knowledge of LFS and its polymorphic spectrum of related malignancies,with a focus on aspects directly linked to orthopedic manifestations.Another objective is to offer an update on the most modern prevention,treatment and follow up guidelines that could be useful for the physicians dealing with this cohort of patients.

Nasogastric tube syndrome:A Meta-summary of case reports

BACKGROUND Since its description in 1790 by Hunter,the nasogastric tube(NGT)is commonly used in any healthcare setting for alleviating gastrointestinal symptoms or enteral feeding.However,the risks associated with its placement are often underes-timated.Upper airway obstruction with a NGT is an uncommon but potentially life-threatening complication.NGT syndrome is characterized by the presence of an NGT,throat pain and vocal cord(VC)paralysis,usually bilateral.It is poten-tially life–threatening,and early diagnosis is the key to the prevention of fatal upper airway obstruction.However,fewer cases may have been reported than might have occurred,primarily due to the clinicians'unawareness.The lack of specific signs and symptoms and the inability to prove temporal relation with NGT insertion has made diagnosing the syndrome quite challenging.AIM To review and collate the data from the published case reports and case series to understand the possible risk factors,early warning signs and symptoms for timely detection to prevent the manifestation of the complete syndrome with life-threatening airway obstruction.METHODS We conducted a systematic search for this meta-summary from the database of PubMed,EMBASE,Reference Citation Analysis(https://www.referencecitation-analysis.com/)and Google scholar,from all the past studies till August 2023.The search terms included major MESH terms"Nasogastric tube","Intubation,Gastrointestinal","Vocal Cord Paralysis",and“Syndrome”.All the case reports and case series were evaluated,and the data were extracted for patient demographics,clinical symptomatology,diagnostic and therapeutic interventions,clinical course and outcomes.A datasheet for evaluation was further prepared.RESULTS Twenty-seven cases,from five case series and 13 case reports,of NGT syndrome were retrieved from our search.There was male predominance(17,62.96%),and age at presentation ranged from 28 to 86 years.Ten patients had diabetes mellitus(37.04%),and nine were hypertensive(33.33%).Only three(11.11%)patients were reported to be immunocompromised.The median time for developing symptoms after NGT insertion was 14.5 d(interquartile range 6.25-33.75 d).The most commonly reported reason for NGT insertion was acute stroke(10,37.01%)and the most commonly reported symptoms were stridor or wheezing 17(62.96%).In 77.78%of cases,bilateral VC were affected.The only treatment instituted in most patients(77.78%)was removing the NG tube.Most patients(62.96%)required tracheostomy for airway protection.But 8 of the 23 survivors recovered within five weeks and could be decannulated.Three patients were reported to have died.CONCLUSION NGT syndrome is an uncommon clinical complication of a very common clinical procedure.However,an under-reporting is possible because of misdiagnosis or lack of awareness among clinicians.Patients in early stages and with mild symptoms may be missed.Further,high variability in the presentation timing after NGT insertion makes diagnosis challenging.Early diagnosis and prompt removal of NGT may suffice in most patients,but a significant proportion of patients presenting with respiratory compromise may require tracheostomy for airway protection.

Ziwan-Taoren herb pair can exert an therapeutical effect in primary Sjogren’s syndrome through inhibiting the TLR/NF-κB pathway

Background:Ziwan and Taoren(ZT)is a classic medicine pair in the formula of Mai Dong Di Shao Decoction,has been used to treat primary Sjogren’s syndrome(pSS)for more than 20 years.But its action mechanism is still unknown.This study is aimed to reveal the potential mechanism of ZT treated pSS and discover its active compounds of ZT and therapeutic target for pSS.Methods:Firstly,the potential pathways of ZT for pSS treatment were predicted through network pharmacology and GO and KEGG enrichment analysis.Secondly,the inter-structural relationships between active compounds of ZT and target proteins were visualized using molecular docking techniques.Finally,efficacy and mechanism were conducted through in vivo experiments,such as water intake,spleen index,hematoxylin-eosin staining pathological changes,ELISA,Western Blot analysis,and immunofluorescence staining.Results:Nine active compounds were extracted from network pharmacology,including quercitrin,luteolin,kaempferol,β-sitosterol,isorhamnetin,galangin,hederagenin,diosmetin and gibberellin 7.Seven disease targets were identified:RELA,TP53,AKT1,interleukin(IL)6,MAPK1,ESR1,IL10;with RELA being the most core target.KEGG and GO enrichment analysis indicated that ZT may act through the TLR/NF-κB/RELA inflammatory mechanism process.preliminary results of molecular docking showed that ZT’s active compounds bind well to the RELA(p65)receptor.In vivo results demonstrated that a high dose of ZT significantly improved water intake and reduced lymphocytes infiltration in submandibular gland pathology in NOD mice.The expression content of AQP5 and vasoactive intestinal peptide in the submaxillary gland was significantly increased,while levels of inflammatory factors such as tumor necrosis factor-α,IL-6,and IL-1βalong with protein expressions including toll-like receptor4,p-p65 and p-IKKα/βin NF-κB pathway were reduced.Conclusions:The ZT treatment exhibits a promising efficacy in mitigating dryness symptoms of pSS,potentially attributed to its capacity for suppressing the TLR/NF-κB inflammatory signaling pathway.

Successful splenic artery embolization in a patient with Behçet’s syndrome-associated splenic rupture:A case report

BACKGROUND Splenic rupture associated with Behçet’s syndrome(BS)is extremely rare,and there is no consensus on its management.In this case report,a patient with BSassociated splenic rupture was successfully treated with splenic artery embolization(SAE)and had a good prognosis after the intervention.CASE SUMMARY The patient was admitted for pain in the left upper abdominal quadrant.He was diagnosed with splenic rupture.Multiple oral and genital aphthous ulcers were observed,and acne scars were found on his back.He had a 2-year history of BS diagnosis,with symptoms of oral and genital ulcers.At that time,he was treated with oral corticosteroids for 1 month,but the symptoms did not alleviate.He underwent SAE to treat the rupture.On the first day after SAE,the patient reported a complete resolution of abdominal pain and was discharged 5 d later.Three months after the intervention,a computed tomography examination showed that the splenic hematoma had formed a stable cystic effusion,suggesting a good prognosis.CONCLUSION SAE might be a good choice for BS-associated splenic rupture based on good surgical practice and material selection.

What Are the Current and Developing Treatments for Cotard’s Syndrome, Alice in Wonderland Syndrome, and Catatonic Schizophrenia?

Purpose: Cotard’s syndrome, Alice in Wonderland Syndrome, and Catatonia are all rare psychiatric disorders that have relatively little research regarding their treatments. The aim of this article is to highlight any gaps in knowledge regarding represented demographics in these treatment studies, and to discuss the current and upcoming treatment options. Background: This literature review explores under-researched psychiatric conditions: Cotard’s syndrome, Alice in Wonderland syndrome, and Catatonic Schizophrenia. Understanding psychiatric disorders requires basic knowledge of brain anatomy. These conditions are often result of or associated with neurological issues, such as migraines or tumors. The brain has eight lobes, two of four kinds: frontal, parietal, occipital, and temporal lobes, which all govern different functions and abilities. Frontal lobes control judgment, decision-making, personality traits, and fine motor movements. Parietal lobes interpret pain and temperature, occipital lobes handle visual stimuli, and temporal lobes enable hearing. The pre-frontal cortex is associated with high intelligence, psychotic traits, and psychosis. The Broca’s Area in the frontal lobes controls expressive language. These areas and divisions of the brain contribute to the complexity of the psychiatric disorders discussed in this review. Introduction: Cotard’s syndrome is a psychiatric disorder characterized by delusions of being dead or not having certain limbs or organs. It is believed that there is a disconnect between their fusiform face area and the amygdala, causing a lack of familiarity between one’s mind and body. Alice in Wonderland Syndrome (AIWS) is another psychiatric disorder which is characterized by visual hallucinations, such as distorted perceptions of color, size, distance, and speed. The most common symptoms include micropsia and macropsia. Catatonia/Catatonic Schizophrenia is an uncommon type of schizophrenia. This type of schizophrenia is characterized by motor rigidity, verbal rigidity, the flat effect, psychomotor retardation, waxy flexibility, and overall negative symptoms. Thus, these people may come off as emotionally detached, and able to stay frozen in odd positions for periods on end. Treatments and Results: Cotard’s syndrome seemed to be most effectively treated by ECT (electroconvulsive therapy). Alice in Wonderland Syndrome (AIWS) had the highest positive responses to treatment by Valproate (an anti-epileptic drug), as well as intervention to treat the associated neurological conditions they had. Catatonia/Catatonic Schizophrenia seemed to be most effectively treated with a combination of benzodiazepines and ECT. Discussion and Demographics: In all 3 disorders, the Latino and African communities were underrepresented. There also seemed to be an underrepresentation of men in Cotard’s syndrome, and of women in Alice in Wonderland Syndrome. Japan and India seemed to have the highest density of treatment studies in all 3 disorders.

A Typical Case of Classic Potter’s Syndrome: A Case Report

Potter syndrome is a rare congenital malformation that primarily affects male fetuses;it is characterized by pulmonary hypoplasia, skeletal malformation, and kidney abnormalities. The pressure of the uterine wall due to oligohydramnios leads to an unusual facial appearance, abnormal limbs in abnormal positions, or contractures. The fetus generally dies soon after birth due to respiratory insufficiency. The baby was a live preterm male, born to a 30-year-old multigravida, out of a non-consanguineous marriage via cesarean section. There was no liquor at the time of delivery. The baby did not cry immediately after birth and required resuscitation, followed by mechanical ventilation. Multiple congenital anomalies suggestive of Potter’s syndrome were noted including facial features, flattened nose, low protruding ear, retrognathism, and epicanthal folds with unilateral atresia of the choana. Chest X-ray showed small volume lung fields suggestive of pulmonary hypoplasia, and we had on ultrasonography bilateral polycystic kidney disease on ultrasonography. At 42 hours of life, the baby developed tachypnea and severe chest retractions and died due to respiratory insufficiency. Our case highlights the importance of regular prenatal checks and examinations in each pregnancy, which helps to collect suspected cases and improve knowledge of this syndrome for better management.

Renal Vein Thrombosis Suggestive of Extramembranous Glomerulonephritis Associated with Sjögren’s Syndrome (Case Report)

Introduction: Glomerular damage during Gougerot-Sjgren syndrome is much rarer than interstitial damage, and is essentially extra-membranous and membrano-proliferative glomerulonephritis. Observation: We report the case of a 44-year-old woman with primary Sjgrens syndrome, confirmed by clinical dryness syndrome, positive anti-SSA and anti-SSB antibodies, and a salivary gland biopsy revealing grade 4 lymphocytic sialadenitis according to CHISHOLMs classification. Later, the patient developed nephrotic syndrome, along with hypertension. Renal function remained normal with a creatinine level of 9.3 mg/l, and hematuria was absent. Only antinuclear antibodies tested positive, while anti-PLA2R antibodies were negative. A renal biopsy was performed, which was complicated on the same day by hemodynamic instability with hematuria. Renal CT scan with contrast injection revealed a posterior perirenal hematoma without contrast extravasation. Additionally, bilateral renal vein thrombosis was incidentally discovered, suggesting extramembranous glomerulonephritis. The patients hemodynamic status stabilized after fluid resuscitation with isotonic saline solution (0.9%), without the need for blood transfusion. Renal biopsy confirmed extramembranous glomerulonephritis with interstitial fibrosis and minimal tubular atrophy. The initial etiological assessment was negative. The patient was started on oral corticosteroids, angiotensin-converting enzyme inhibitors, and therapeutic anticoagulation for renal vein thrombosis. The patients condition improved, with the disappearance of the syndrome and spontaneous regression of the hematoma. Discussion: The association of nephrotic syndrome and renal vein thrombosis primarily suggests glomerulopathy, in particular extra-membranous glomerulonephritis. Sjgrens syndrome can be associated with extra-membranous glomerulonephritis without being its direct cause. Like, it is possible that it is a cause of glomerulonephritis, essentially extra membranous and membrano-proliferative. Conclusion: Sjgrens syndrome is generally underestimated cause of glomerulonephritis, which should be considered in cases of extra-membranous glomerulonephritis.

Navigating Long-Term Management Challenges in Short Bowel Syndrome: A Case Report of Chronic Intestinal Failure Complicated by Kidney Dysfunction

The most common cause of intestinal failure is short bowel syndrome (SBS), occurring as a result of a small functional intestine length, usually less than 200 cm, leading to intestinal malabsorption. A 59-year-old female with a past medical history of Crohns disease status post total colectomy with ileostomy over 20 years ago came to the hospital due to progressive weakness. Despite medical management, the patient had high ileostomy output, leading to electrolyte disbalance, metabolic acidosis, dehydration, and progressive kidney decline. Due to the high dependence on continuous fluid supplementation, it was decided to place a port for parenteral hydration to maintain fluid replacements and homeostasis after discharge. Prompt initiation of parenteral fluid replacement and close follow-up on patients with ileostomy and intestinal failure is strongly recommended to avoid complications and prevent intestinal, liver, or kidney transplants.

Reliability and Validity of Simplified Chinese STOP-BANG Questionnaire in Diagnosing and Screening Obstructive Sleep Apnea Hypopnea Syndrome

The main purpose of this study was to assess the reliability and validity of the simplified Chinese STOP-BANG Questionnaire(SBQ)as a diagnosing and screening tool for obstructive sleep apnea hypopnea syndrome(OSAHS).Two hundred and ten patients with suspected OSAHS were recruited in this study.The simplified Chinese SBQ was completed twice before and after polysomnography(PSG)monitoring.SPSS 20.0 was used to analyze the test-retest reliability,discriminant validity,comparative validity and predictive validity of the SBQ.Fourteen patients were excluded on account of fragmentary data,and valid 196 were divided into four groups:non-OSAHS group(n=28,14.29%),mild OSAHS group(n=28,14.29%),moderate OSAHS group(n=31,15.81%)and severe OSAHS group(n=109,55.61%).The test-retest coefficient tor the first four items was 0.810,0.679,0.775,0.963 respectively and the total score of the STOP questionnaire was 0.854.The analysis of discriminant validity revealed that there were significant differences among four groups in the total score of the SBQ and scores of item 1,3,7 and 8,which were also validated between patients with normal blood oxygen saturation and different degrees of hypoxemia.The SBQ evaluation showed low consistency with diagnostic gold standard PSG(k=0.3O3,P<0.05).When taking apnea hypopnea index(AHI)≥5/h,≥15/h and≥30/h as cut-offs to evaluate the SBQ predictive value,the areas under ROC curve were 0.77,0.81 and 0.78,the sensitivity was 90.48%,93.57%and 93.33%,and corresponding negative predictive values were 40.74%,66.67%and 85.19%,respectively.It was suggested that the simplified Chinese version of SBQ had good reliability,and could distinguish the severity of OSAHS.Despite its limited diagnostic accuracy,the SBQ can be considered as an ideal tool for screening OSAHS with superior predictive validity.

Screening of celiac disease in Down syndrome-Old and new dilemmas

Celiac disease(CD) is a common and well defined autoimmune disorder caused by gliadin and related proteins of wheat,rye,and barley.Epidemiologic studies confirmed that CD is highly associated with other autoimmune diseases and with Down syndrome(DS).The symptomatic form of CD in patients with DSis more frequent than asymptomatic forms.However,growth impairment,anemia,intermittent diarrhea,and constipation are symptoms and signs typically of children with DS without CD.Late identification of the disease can lead to various complications,sometimes even very severe.Therefore,systematic screening for CD is essential in the management of children and adolescents with DS.Many medical organizations recommend screening in this group of patients.However,current policy statements vary in their recommendations for screening and there is still a need for establishing uniform diagnostic criteria.

Utility of the Asia-Pacific colorectal screening scoring system and the presence of metabolic syndrome components in screening for sporadic colorectal cancer

AIM: To determine the utility of the Asia-Pacific colorectal screening(APCS) scoring system and metabolic syndrome components in individual screening for sporadic colorectal cancer.METHODS: The subjects were patients admitted to the Peking University People's Hospital for colonoscopy between October 2012 and July 2013. Clinical information, including patient willingness to undergo colonos-copy, medical history, endoscopic findings, histology, and other information, was collected, and the patients were grouped according to APCS scores and the presence of metabolic syndrome components. Colorectal tumor detection rates were compared between the groups.RESULTS: A total of 219 patients were included in the study, 108 were male and 111 were female, resulting in a male-to-female ratio of 1:1.03. The average age of the patients was 56.8 ± 13.7 years. According to APCS scores, 88(40.2%) patients were included in the average-risk(AR) group, 113(51.6%) patients were included in the moderate-risk(MR) group, and 18(8.2%) patients were included in the high-risk(HR) group. Colorectal tumors were detected in 69(31.5%) subjects, and the detection rates in the AR, MR, and HR groups were 15.9%, 36.3%, and 77.8%, respectively. The difference in the detection rates between the three groups was statistically significant(P < 0.01). The combined detection rate of colorectal tumors in the APCS MR and HR groups was 42.0%. However, patients in the MR and HR groups who presented with metabolic syndrome components, in particular obesity, exhibited a significantly higher colorectal tumor detection rate(59.5%) than did those without these components(19.2%, P < 0.01) and those who underwent colonoscopy because of doctor's recommendation(36.5%, P < 0.01). CONCLUSION: The APCS scoring system can be used in individual screening for sporadic colorectal cancer. The combined use of APCS scores and the metabolic syndrome components, in particular obesity, will significantly improve the efficacy of individual colorectal cancer screening.

A Rapid Screening and Diagnosis on Fragile X Syndrome by PCR

Polymerase chain reaction (PCR) technique combined with direct detection by silver staining on denaturing DNA sequencing gel was used to analyze the (CGG)n repeats within the FMR1 gene on 169 suspected patients with mental retardation and 33 kindreds of 6 fragile X families. The results showed that : (1) No PCR products were detected in 3 males in the suspected group. (2) In the fragile X family studies, the 5 male probands failed to show any PCR products. (3) Diplex PCR with the primers flanking the FRAXE locus was used to serve as an internal control for the 8 above mentioned males and only normal products of the FRAXE locus were detected, indicating that the possibility of false negative results of the FRAXA locus could be eliminated. These findings suggested that analysis of (CGG)n repeat within the FMR1 gene by PCR technique could efficiently detect premutation carriers and that negative PCR products in mentally retarded males might highly imply the diagnosis of fragile X syndrome after the false negative results have been excluded by diplex PCR. This PCR assay is suitable for the screening and diagnosis of fragile X syndrome in a large number of populations due to its rapidity, simplicity, stability and reliability.

A perspective study and financial analysis of different protocols of second trimester maternal serum screening for Down's syndrome

Objective:To compare the efficiency and related financial parameters of the double- and triple-marker test for the second-trimester maternal serum screening for Down's syndrome. Methods:The serum samples were collected from the 2^(nd) trimester pregnant women in this hospital and were examined for three biomedical markers[alpha-fetoprotein(AFP),freeβ-human chorionic gonadotropin(freeβ-hCG) and unconjugated estriol(uE_3)]by TR-FIA.The pregnancy outcomes were followed up and screening efficiency calculated for double-marker(AFP+freeβ-hCG) and triple-marker(AFP+ freeβ-hCG+uE_3) test. Results:(1)A total of 4,707 serum samples of 2^(nd) trimester pregnancy were collected in this study,of which 4,245 pregnancy outcomes got followed up by May 30,2009,with 462 cases lost to follow-up.The follow-up rate was 90.2%.3 cases of Down's syndrome,4 cases of other chromosome abnormalities and 1 case of neural tube defect (NTD) were found.There was no medically induced miscarriage by invasive tests.(2) Detection rate and false positive rate of triple marker test for Down's syndrome screening were 66.7%and 5.26%,respectively,while those in double marker test were 33.3%and 4.01%,respectively.The detection rate of all chromosome abnormalities was 75%in triple marker test and 37.5%in double marker test.The detection rate of NTD was 100%either in double or triple marker test.(3) It costs 499,375 RMB to avoid one Down's syndrome birth by using triple marker test and 781,200 RMB by using double marker test. Conclusion:Triple-marker test is superior to double marker test in 2nd trimester maternal serum screening for Down's syndrome,and costs less to avoid a Down's syndrome birth.

Screening for celiac disease in Down's syndrome patients revealed cases of subtotal villous atrophy without typical for celiac disease HLA-DQ and tissue transglutaminase antibodies

瞄准：为了在 134 karyotyped 象 CD 标记抗体和危险性 HLA-DQ haplotypes 一样调查乳糜泻(CD ) 的流行，击倒的症候群(DS ) 病人。方法：免疫球蛋白 A (IgA ) 和 G (IgG ) 打反麦胶蛋白质抗体(统帅) ，有畿尼猪和人的来源的抗原的 IgA 类型反织物 transglutaminase (tTG ) 抗体(anti-tTG ) 被间接免疫被连接酶的免疫吸着剂试金和肌内膜抗体(EMA ) 决定荧光测试。HLA-DQA1 *0501 /DQB1 *0201 (DQ2 ) 被聚合酶链反应揭示。乳糜泻被修订 ESPGHAN 标准诊断。结果：41% DS 病人有统帅，有畿尼猪抗原的 6.0% IgA anti-tTG，和 3.0% IgA EMA (为有人的 tTG 的 anti-tTG 积极的所有) 。覆有一层绒毛的萎缩从同意了小肠活体检视的 9 个 DS 病人在 5 被发现的小计。他们之一有 DQA1 *0501 /DQB1 *0201 和 anti-tTG 和 EMA 即为 CD 标记典型(这个盒子也完成了 ESPGHAN 诊断标准) ，但是另外的四缺乏这些标记。最可能也有的三个活体检视得非的 DS 病人 CD 因为 DQA1 *0501 /DQB1 *0201 和 IgA anti-tTG (EMA ) 被检测。因此，在我们的 DS 病人人口之中的 CD 的流行是 3.0%( 信心间隔的 95 %[CI ] ：0.1-5.9%) 。结论：我们在 DS 病人之中证实 CD 的增加的频率。另外，我们与小计揭示了病人的亚群覆有一层绒毛的萎缩但是没有为 CD 免疫学的和基因标记的特征。这些盒子是否代表 CD (与不正常的免疫致病) 或某另外的有免疫力的肠病，要求进一步的调查。

Application of intelligent algorithms in Down syndrome screening during second trimester pregnancy

BACKGROUND Down syndrome(DS)is one of the most common chromosomal aneuploidy diseases.Prenatal screening and diagnostic tests can aid the early diagnosis,appropriate management of these fetuses,and give parents an informed choice about whether or not to terminate a pregnancy.In recent years,investigations have been conducted to achieve a high detection rate(DR)and reduce the false positive rate(FPR).Hospitals have accumulated large numbers of screened cases.However,artificial intelligence methods are rarely used in the risk assessment of prenatal screening for DS.AIM To use a support vector machine algorithm,classification and regression tree algorithm,and AdaBoost algorithm in machine learning for modeling and analysis of prenatal DS screening.METHODS The dataset was from the Center for Prenatal Diagnosis at the First Hospital of Jilin University.We designed and developed intelligent algorithms based on the synthetic minority over-sampling technique(SMOTE)-Tomek and adaptive synthetic sampling over-sampling techniques to preprocess the dataset of prenatal screening information.The machine learning model was then established.Finally,the feasibility of artificial intelligence algorithms in DS screening evaluation is discussed.RESULTS The database contained 31 DS diagnosed cases,accounting for 0.03%of all patients.The dataset showed a large difference between the numbers of DS affected and non-affected cases.A combination of over-sampling and undersampling techniques can greatly increase the performance of the algorithm at processing non-balanced datasets.As the number of iterations increases,the combination of the classification and regression tree algorithm and the SMOTETomek over-sampling technique can obtain a high DR while keeping the FPR to a minimum.CONCLUSION The support vector machine algorithm and the classification and regression tree algorithm achieved good results on the DS screening dataset.When the T21 risk cutoff value was set to 270,machine learning methods had a higher DR and a lower FPR than statistical methods.

AB094.Development and validation of a screening questionnaire for the Charles Bonnet syndrome

Background:The purpose of this study is to develop a screening questionnaire for the Charles Bonnet syndrome(CBS)that is valid,particularly in terms of specificity and sensitivity,and that allows to examine certain dimensions of these hallucinatory manifestations,to better assess the needs of people who live with the CBS.Methods:Interviews with clients of the Institut Nazareth et Louis-Braille who experienced visual hallucinations,supported by scientific literature and expert experience,guided the development of the questionnaire.Its content was first validated by six experts who assessed the questions developed,organized in seven subscales:(I)unusual perceptions;(II)contact with reality;(III)discriminatory screening;(IV)adaptation strategies;(V)psychological impact;(VI)description of the context of occurrence and(VII)characteristics.In a second step,a clinical study involving 76 people with visual impairment made it possible to determine the sensitivity and specificity of the instrument according to a criterion validity methodology,namely the clinical impression of a psychologist and/or an optometrist specialized in visual impairment,based on specific examinations and clinical tests.Subjects who appeared to have a CBS following the scouting done by subscale 1(Unusual Perceptions)completed the rest of the questionnaire.Results:(I)The analyzes revealed a sensitivity of 1.00 and a specificity that varies from of 0.42 to 0.77 for the identification of CBS with the“Unusual Perceptions”subscale;(II)the administration of the questionnaire to the 76 study participants revealed that the wording of some questions needs to be improved;(III)the responses to the other 6 subscales of the questionnaire given by the 21 participants with SCB,show among others that most have simple rather than complex hallucinations and that these occur daily for 50%of them.Hallucinations do not negatively affect their mood,although they are experienced as disturbing by half of the participants with CBS.Only 11 participants with CBS have already talked about their hallucinations to a relative or a health professional,and only 5 have heard about CBS before.Conclusions:The CBS screening questionnaire has an excellent sensitivity,and an acceptable specificity.The CBS“Unusual Perceptions”subscale should include additional items.Further studies are needed for this purpose.In addition,the rest of the questionnaire reveals clinically important information about various aspects of these individuals’hallucinations,such as the fact that many are disturbed by their hallucinations and have never heard of CBS.This questionnaire will help to better assess their needs and better plan interventions.

Screening and diagnosis of endometrial cancer in Lynch syndrome

Lynch syndrome(LS) is an autosomal dominant inherited cancer predisposition syndrome caused by a mismatch of DNA repair(MMR system). Lifetime risk of developing endometrial and ovarian cancer in LS is higher than in the general population and gynecologic screening appears interesting. Screening is based on several tests: pelvic ultrasound, endometrial biopsy and hysteroscopy for endometrial cancer, pelvic ultrasound and CA125 for ovarian cancer. Those tests appear efficient for the diagnosis of gynecologic cancers in LS. Nevertheless, screening tests have not proved clinical benefit until now, and potential problems of compliance, risk of false negative cases, and interval cancer associated with screening do justify offering prophylactic surgery to patients. Women with LS should be informed of the potential benefits and risks of screening and the importance of evaluation in case of gynecologic symptoms or abnormal bleeding. Chemoprevention by progestincontaining oral contraceptives and the treatment of premalignant lesion are available options for reducing the risk of endometrial cancer in LS population.

Superior mesenteric artery syndrome:Diagnosis and management

Superior mesenteric artery(SMA)syndrome(also known as Wilkie's syndrome,cast syndrome,or aorto-mesenteric compass syndrome)is an obstruction of the duodenum caused by extrinsic compression between the SMA and the aorta.The median age of patients is 23 years old(range 0-91 years old)and predominant in females over males with a ratio of 3:2.The symptoms are variable,consisting of postprandial abdominal pain,nausea and vomiting,early satiety,anorexia,and weight loss and can mimic anorexia nervosa or functional dyspepsia.Because recurrent vomiting leads to aspiration pneumonia or respiratory depression via metabolic alkalosis,early diagnosis is required.The useful diagnostic modalities are computed tomography as a standard tool and ultrasonography,which has advantages in safety and capability of real-time assessments of SMA mobility and duodenum passage.The initial treatment is usually conservative,including postural change,gastroduodenal decompression,and nutrient management(success rates:70%-80%).If conservative therapy fails,surgical treatment(i.e.,laparoscopic duodenojejunostomy)is recommended(success rates:80%-100%).

Persistent Xerophthalmia in a Patient with Rheumatological Disease and Priiviary Sjogren’s Syndrome: Case Report from Northern Brazil

This case study aims to contribute to the literature in order to highlight the importance of this collaboration between medical specialties. A female patient R.N.N. F, age 66, from the city of Manaus, with a previous diagnosis of Sjogren’s syndrome in regular follow-up by the Rheumatology team at the Araujo Lima outpatient clinic and referred to the Ophthalmology sector for complementary evaluation related to visual discomfort. The fundoscopy performed in the patient was within normal limits, but the symptoms experienced by her proved to be an important clinical finding, which has ratified the need for regular and multidisciplinary follow-up. This report unequivocally demonstrates that even in the face of tests considered within the expected limits for a given population, the clinical presentation can be specific and particular for each analyzed individual. Early screening exams should contemplate the patient in a holistic and individualized way whenever possible.