Phenotypical Aspects of a Familial Syndromic Retinitis Pigmentosa

Aim: To report a familial case of syndromic retinitis pigmentosa identified at Aristide Le Dantec Hospital in Dakar and to describe their clinical characteristics ophthalmic. Observation: We report a sibling group of nine children, four died at a young age from unknown causes. Three children were affected by retinitis pigmentosa, two cases were syndromic. A history of nyctalopia was found in all three affected children. The mean age of onset of decreased visual acuity was 6.6 years. Patient 1 affected by syndromic retinitis pigmentosa had an extraocular sign of cystic dilation of the main bile duct. Patient 2 had myoclonic epilepsy, psychomotor retardation, and the molar tooth sign on cerebral MRI (highly suggestive of Joubert syndrome). The third child had isolated retinitis pigmentosa. Ophthalmological examinations (fundus examination, electroretinogram, and visual evoked potentials) and pediatric examinations in the remaining two children were normal. Discussion and Conclusion: Retinitis pigmentosa is a rare degenerative disease that can be associated with several other malformations, highlighting the importance of screening for associated conditions. It presents a grim functional prognosis and a life prognosis dependent on extraocular manifestations. Molecular biology (karyotyping, next-generation sequencing) could have identified the implicated genes and allowed for a formal diagnosis and genetic counseling.

A Clinical Study to Assess the Effectiveness of Oral Combination Kit Therapy in Syndromic Management of Abnormal Vaginal Discharge (FEMINE Study) in Kinshasa, Democratic Republic of Congo

Background: Vaginal discharge is one of most common and nagging problems that women face. About 20% - 25% of women who visit gynecology department complain of vaginal discharge and leucorrhoea. An orally administered combination kit, containing 2 g secnidazole, 1 g azithromycin and 150 mg fluconazole (Azimyn FS Kit), has been successfully evaluated in clinical trials and used in several countries for management syndromic vaginal discharge due to infections. Methods: This is a longitudinal study which aimed to verify the clinical efficacy of the combined oral kit containing secnidazole, azithromycin and fluconazole (Azimyn FS Kit®) in the syndromic treatment of abnormal vaginal discharge in patients received in outpatient consultations in Kinshasa/DR Congo from March to September 2023. Results: Majority of patients had whitish vaginal discharge (51.6%) of average abundance (56.2%), accompanied by pruritus in 72.1% of cases, and dyspareunia in 23.5% of cases and hypogastralgia in 40.2% of cases. One week after treatment with the Azimyn FS® combined kit, at the greatest majority of patients (97.3%), abnormal vaginal discharge had decreased by more than 50% (84.1%). Two weeks after treatment with the Azimyn FS® combined kit, almost all patients (97.3%) no longer had abnormal vaginal discharge which had completely disappeared. Conclusion: A single dose of secnidazole, azithromycin and fluconazole in the form of an oral combi-kit (Azimyn FS Kit) has shown excellent therapeutic effectiveness in the syndromic treatment of abnormal vaginal discharge wherein patients were treated without diagnostic confirmation.

Rationale of Cross-Sectional Descriptive Study on Clinical Effectiveness of Oral Combination Therapy Based on Secnidazole, Azithromycin and Fluconazole in Syndromic Treatment of Abnormal Vaginal Discharge in Kinshasa/DR Congo

Background: Vaginal discharge is one of the most common troubles faced by childbearing age women. About 20% - 25% of women who visit service of gynecology complain of vaginal discharge and leucorrhoea. Management of vaginal discharge in low-income countries generally depends on syndromic approach, which limits the understanding of specific responsible agents. Thus targeted management is based on the identification of causal organism and targeting of therapy against it, while syndromic management is based on presence of high risk factors. Thus the oral combination kit (Azimyn FS Kit®) offers convenience of a one-day treatment compared to other multidose treatments, which will also ensure high patient adherence to treatment, thus increasing chances of desired results. Due to its widespread use, it is proposed to evaluate the effectiveness of this oral association kit therapy in management of vaginal discharge in the population of our milieu in the Democratic Republic of Congo (DRC) particularly those received in outpatient consultation in some medical facilities in city of Kinshasa. Expensive laboratory tests and the associated waiting period for result mean that patient remains without treatment while waiting for test results. Therefore, by adopting a syndromic management approach, patient’s eligibility for treatment will be decided based on abnormal vaginal discharge, their characteristics, severity and other presentations symptomatic. This approach will also avoid losing sight of patients during follow-up and will help to reduce financial burden for patients. Objectives: To determine the efficacy and safety of oral combination kit therapy containing secnidazole, azithromycin and fluconazole (Azimyn FS Kit®) in syndromic treatment of abnormal vaginal discharge in patients received in outpatient consultation in some medical facilities in the city of Kinshasa;to measure rate of recurrence of abnormal vaginal discharge in these patients. And to identify the adverse effects observed in these patients who received treatment with the combined oral kit containing secnidazole, azithromycin and fluconazole (Azimyn FS Kit®) in outpatient consultation in some medical facilities in the city of Kinshasa. Methods: It will be a cross-sectional descriptive study. Sample size will be 319 women of childbearing age who consult the gynecology department with complaint of abnormal vaginal discharge and suspicion of vaginal infection, who agree to abstain from sex during treatment and who have given their written consent to use their personal and/or health data in the study. Conclusion: A study on clinical efficacy of oral combination therapy based on secnidazole, azithromycin and fluconazole is beneficial.

Social network analysis and modeling of cellphone-based syndromic surveillance data for ebola in Sierra Leone

Objective:To explore and visualize the connectivity of suspected Ebola cases and surveillance callers who used cellphone technology in Moyamba District in Sierra Leone for Ebola surveillance,and to examine the demographic differences and characteristics of Ebola surveillance callers who make more calls as well as those callers who are more likely to make at least one positive Ebola call.Methods:Surveillance data for 393 suspected Ebola cases(192 males,201 females) were collected from October 23,2014 to June 28,2015 using cellphone technology.UCINET and Net Draw software were used to explore and visualize the social connectivity between callers and suspected Ebola cases.Poisson and logistic regression analyses were used to do multivariable analysis.Results:The entire social network was comprised of 393 ties and 745 nodes.Women(AOR=0.33,95% CI [0.14,0.81]) were associated with decreased odds of making at least one positive Ebola surveillance call compared to men.Women(IR= 0.63,95% CI [0.49,0.82]) were also associated with making fewer Ebola surveillance calls compared to men.Conclusion:Social network visualization can analyze syndromic surveillance data for Ebola collected by cellphone technology with unique insights.

Socio-Demographic, Clinical, and Hygiene Profile of Syndromically Managed Sexually Transmitted Diseases: A Cross Sectional Study in a Tertiary Care Center in India

Background: Sexually transmitted diseases are one of the several major public health concerns, the burden of which is borne by low- and middle-income countries like India. Purpose: The purpose is to evaluate the relationship between menstrual and sanitary hygiene and sexually transmitted diseases (STD) based on syndromic diagnosis Methods: An out-patient department (OPD) based cross sectional survey to determine these associations, if any exist, which would help critically analyze syndromic management. STD was reported by the presence of vaginal/cervical/urethral discharge with or without irritation and itching, lower abdominal pain and ulcer. Results: The prevalence of STD was 66.84% with the most commonly reported symptoms being discharged (31.18%), followed by abdominal pain (17.92%) and itching/irritation (12.90%), with ulcer (4.83%) being the least reported symptom. Perimenopausal age ((AOR: 0.420 [CI: 0.189 - 0.915];p = 0.030), higher grades of education ((AOR: 0.228 [CI: 0.119 - 0.424];p < 0.001) for secondary), urban residency (AOR: 0.435 [CI: 0.686 - 2.733];p < 0.001), and contraception use (AOR: 0.531 [CI: 0.308 - 0.887];p = 0.018) were associated with lesser odds of presenting with an STD symptom. Belonging to a minority religious community (AOR: 7.20 [CI: 1.866 - 48.251];p < 0.012) or backward castes (AOR: 3.753 [CI: 1.587 - 10.144];p < 0.001), having similar illness (AOR: 4.205 [CI: 2.795 - 6.439];p < 0.001) or having an invasive gynecological procedure done in the past one year (AOR: 1.953 [CI: 1.184 - 3.295];p = 0.010) and washing the reusable sanitary material only with water (AOR: 4.900 [CI: 2.701 - 9.116];p < 0.001) as compared to washing it with water and soap, had a higher association with presenting with STD symptoms. Stratified analysis also showed that women presenting discharge (AOR: 2.049 [CI: 1.343 - 3.146] for vaginal and cervical;AOR: 1.426 [CI: 0.826 - 2.482] for urethral) were more likely to not have a toilet facility in an accessible condition. Women with sanitary napkin use had lesser odds (AOR: 0.780 [CI: 0.516 - 1.180];p = 0.293) of presentation for STD in OPD than women who used other material. Conclusion: To better manage the group of diseases that may present with symptoms of STD under syndromic approach, we propose interventions such as menstrual hygiene education and promotion of the use of sanitary napkins among women especially those belonging to lower socio-economic sections of the society.

CLINICAL SIMULATED EXPERIMENT ON SYNDROMIC STANDARDS OF PULMONARY SYSTEM DISEASES

Clinical simulated experiment (CSE) is an intermediate experiment in clinic withmodern functional simulation.Traditional Chinese Medicine (TCM) has a long histo-ry with an unique system of medical theory which has not been standardized and cannot be fully explained by modern natural sciences.CSE on the syndromic standardsof pulmonary system diseases (SSOPSD) was carried out by following TCM’s theo-

Syndromic Management of Sexually Transmitted Diseases inAntenatal and Family Planning Clinic Attendees

For the purpose of control of STDs and AIDS, WHO has recommended the syn-dromic approach to prompt and complete diagnosis and treatment of diseases. In ante-natal and family planning clinic attendees (a low STD prevalence population), theuse of signs and symptoms and the risk assessment can be evaluated as a screening toolto manage infections factors (RTIS ) in women. However, for the asymptomatic indi-viduals more sensitive and specific laboratory tests should be used to find out more STDpatlents.The syndromic management of genital ulceration and lower abdominal pain inwomen appears to be feasible. On the otherh and, the management of abnormal vagi-nal discharge can relleve symptoms of vaginal infections, but prevention of transmis-sion and complications of cervical infections, even adding risk factor assessment andcersical examination, it ofen results in significant amount of overtrealment. However,using the syndromic approach as a screening tool, the diagnosis of cervical infecti0ns inindividuals with a positive screening result can be further confrmed.

Identification of Known and Novel PTCH Mutations in Both Syndromic and Non-syndromic Keratocystic Odontogenic Tumors

Aim To clarify the role of PTCH in patients with NBCCS- related and non-sydromic keratocystic odontogenic tumors. Methodology Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs. Results Four novel and two known mutations were identifled in 2 sporadic and 3 syndromic cases, two of which being germline mutations （c.2179delT, c.2824delC） and 4 somatic mutations （c.3162dupG, c.1362-1374dup, c.1012 C〉T, c.403C〉T）. Conclusion Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.

Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations

Mutations in serologically defined colon cancer autoantigen protein 8(SDCCAG8)were first identified in retinal ciliopathy families a decade ago with unknown function.To investigate the pathogenesis of SDCCAG8-associated retinal ciliopathies in vivo,we employed CRISPR/Cas9-mediated homology-directed recombination(HDR)to generate two knock-in mouse models,Sdccag8^(Y236X/Y236X) and Sdccag8^(E451GfsX467/E451GfsX467),which carry truncating mutations of the mouse Sdccag8,corresponding to mutations that cause Bardet-Biedl syndrome(BBS)and Senior-L?ken syndrome(SLS)(c.696T>G p.Y232X and c.1339-1340ins G p.E447GfsX463)in humans,respectively.The two mutant Sdccag8 knock-in mice faithfully recapitulated human SDCCAG8-associated BBS phenotypes such as rod-cone dystrophy,cystic renal disorder,polydactyly,infertility,and growth retardation,with varied age of onset and severity depending on the hypomorphic strength of the Sdccag8 mutations.To the best of our knowledge,these knock-in mouse lines are the first BBS mouse models to present with the polydactyly phenotype.Major phototransduction protein mislocalization was also observed outside the outer segment after initiation of photoreceptor degeneration.Impaired cilia were observed in the mutant photoreceptors,renal epithelial cells,and mouse embryonic fibroblasts derived from the knock-in mouse embryos,suggesting that SDCCAG8 plays an essential role in ciliogenesis,and cilium defects are a primary driving force of SDCCAG8-associated retinal ciliopathies.

Ocular findings in syndromic gingival fibromatosis: a case study and electronic microscopic investigation of lens

We report a case of syndromic gingival fibromatosis with notable ocular lesions,bilateral congenital cataracts,esotropia,and high myopia of a 21-year-old male patient from China.The patient was diagnosed with gingival fibromatosis based on his massive gingival overgrowth and histological findings that were consistent with gingival fibromatosis through a gingival biopsy.Lens opacity features were presented and phacoemulsificaion with intraocular lens(IOL)implantation was performed to manage the cataracts in both eyes.Transmission electronic microscopy was used to investigate the ultrastructure of the removed lens tissue.We also review the literature on gingival fibromatosis and briefly summarize the ocular manifestations of this rare disease.

Mechanical upper bowel obstruction caused by a large trichobezoar in a young woman: A very unusual case report

BACKGROUND Bezoars usually compile human fibers and debris.A special form of bezoar in case of psychologically altered individuals is the trichobezoar.It consists of voluntarily swallowed hair bulks and is normally removed via gastroscopy.Trichobezoars leading to ileus have rarely been reported.CASE SUMMARY A 24-year-old female patient presented to the emergency room with abdominal pain,nausea,and vomiting for 3 d.Her previous medical and psychiatric history was unremarkable.Laboratory analysis showed iron deficiency anemia,leukocytosis,and elevated liver enzymes.An abdominal CT scan revealed a dense structure in the patients’stomach which turned out to be a huge trichobezoar completely obstructing the pylorus.The trichobezoar had to be removed surgi-cally.During her postoperative course,a subcutaneous seroma formed.After a single puncture,the rest of the recovery process was unremarkable,and the patient recovered fully.CONCLUSION A mechanical bowel obstruction is a potentially life-threatening event for every patient.In our case a young female was suffering from severe symptoms of an obstruction which might have resulted in serious harm without successful surgical management.

Body composition and metabolic syndrome in patients with type 1 diabetes

BACKGROUND In recent years,the prevalence of obesity and metabolic syndrome in type 1 diabetes(T1DM)patients has gradually increased.Insulin resistance in T1DM deserves attention.It is necessary to clarify the relationship between body composition,metabolic syndrome and insulin resistance in T1DM to guide clinical treatment and intervention.AIM To assess body composition(BC)in T1DM patients and evaluate the relationship between BC,metabolic syndrome(MS),and insulin resistance in these indi-viduals.METHODS A total of 101 subjects with T1DM,aged 10 years or older,and with a disease duration of over 1 year were included.Bioelectrical impedance analysis using the Tsinghua-Tongfang BC Analyzer BCA-1B was employed to measure various BC parameters.Clinical and laboratory data were collected,and insulin resistance was calculated using the estimated glucose disposal rate(eGDR).RESULTS MS was diagnosed in 16/101 patients(15.84%),overweight in 16/101 patients(15.84%),obesity in 4/101(3.96%),hypertension in 34/101(33.66%%)and dyslip-idemia in 16/101 patients(15.84%).Visceral fat index(VFI)and trunk fat mass were significantly and negatively correlated with eGDR(both P<0.001).Female patients exhibited higher body fat percentage and visceral fat ratio compared to male patients.Binary logistic regression analysis revealed that significant factors for MS included eGDR[P=0.017,odds ratio(OR)=0.109],VFI(P=0.030,OR=3.529),and a family history of diabetes(P=0.004,OR=0.228).Significant factors for hypertension included eGDR(P<0.001,OR=0.488)and skeletal muscle mass(P=0.003,OR=1.111).Significant factors for dyslipidemia included trunk fat mass(P=0.033,OR=1.202)and eGDR(P=0.037,OR=0.708).CONCLUSION Visceral fat was found to be a superior predictor of MS compared to conventional measures such as body mass index and waist-to-hip ratio in Chinese individuals with T1DM.BC analysis,specifically identifying visceral fat(trunk fat),may play an important role in identifying the increased risk of MS in non-obese patients with T1DM.

Acquired immunity and asymptomatic reservoir impact on frontline and airport ebola outbreak syndromic surveillance and response

The number of surveillance networks for infectious disease diagnosis and response has been growing.In 2000,the World Health Organization(WHO)established the Global Outbreak Alert and Response Network,which has been endorsed by each of the 46 WHO African members since then.Yet,taming the dynamics and plague of the vicious Ebola virus disease(EVD)in African countries has been patchy and erratic due to inadequate surveillance and contact tracing,community defiance and resistance,a lack of detection and response systems,meager/weak knowledge and information on the disease,inadequacies in protective materials protocols,contact tracing nightmare and differing priorities at various levels of the public health system.Despite the widespread acceptance of syndromic surveillance(SS)systems,their ability to provide early warning alerts and notifications of outbreaks is still unverified.Information is often too limited for any outbreak,or emerging or otherwise unexpected disease,to be recognized at either the community or the national level.Indeed,little is known about the role and the interactions between the Ebola infection and exposure to other syndemics and the development of acquired immunity,asymptomatic reservoir,and Ebola seroconversion.Can lessons be learnt from smallpox,polio,and influenza immunity,and can immunization against these serve as a guide?In most endemic countries,community health centers and disease control and prevention at airports solely relies on passive routine immunization control and reactive syndromic response.The frontline and airport Ebola SS systems in West Africa have shown deficiencies in terms of responding with an alarming number of case fatalities,and suggest that more detailed insights into Ebola,and proactive actions,are needed.The quest for effective early indicators(EEE)in shifting the public and global health paradigm requires the development and implementation of a comprehensive and effective community or regional integrated pandemic preparedness and surveillance response systems tailored to local contexts.These systems must have mechanisms for early identification,rapid contact tracing and tracking,confirmation,and communication with the local population and the global community,and must endeavor to respond in a timely manner.

Comparative analysis of syndromic and PCR-based diagnostic assay reveals misdiagnosis/ overtreatment for trichomoniasis based on subjective judgment in symptomatic patients

Background:Trichomoniasis,a sexually transmitted disease(STD),is caused by Trichomonas vaginalis in both men and women.Screening of trichomoniasis is problematic in resource challenged settings as currently available,inexpensive diagnostic methods are of low sensitivity and/or specificity.In India,National AIDS Control organization(NACO)recommended syndromic case management(SCM)for treatment.The objective of the present study was to compare the utility of the NACO-NACP III Algorithms for STI/RTI treatment used by clinicians with PCR based diagnosis.Methods:Patients visiting Department of Obstetrics&Gynecology,Vardhman Mahavir Medical College and Safdarjung Hospital,New Delhi from January 2011 to June 2014 were enrolled in the study to compare the diagnostic efficiency of PCR-based assays against SCM.Based on SCM,patients(n=820)were treated with antibiotics using pre-packed STI/RTI kits(sexually transmitted infection/reproductive tract infection;procured by National AIDS Control/State AIDS Control Society(NACO/SACS),Ministry of Health and Family Welfare,Govt of India.)under National AIDS Control Programme(NACP III)for syndromic case management(SCM).Ectocervical dry swab samples were also obtained from these patients and out of that 634 samples were tested by PCR.Total genomic DNA was extracted from these samples and used as template for PCR amplification using pfoB,gyrA and orf1 gene specific primers for diagnosis of T.vaginalis(TV),Chlamydia trachomatis(CT)and Neisseria gonorrhoeae(NG)respectively.Results:Out of 6000 patients who visited OPD,820(14%)female patients reported vaginal discharge and were recommended antibiotic treatment for one or more pathogens namely,TV,CT,NG and Candida or for co-infection.On the basis of signs&symptoms and NACO guidelines,the following distribution of various infections was observed:TV(46%),CT(20%),coinfection with TV and CT(12%),coinfection with CT and NG(11%),coinfection with TV,CT and Candida(7%)and coinfection with TV and NG(2%).Others were infected with NG alone(1%),coinfected with TV and Candida(0.4%)and 0.3%were coinfected with CT,NG and Candida.Based on PCR method,110(17%)women tested positive for one or more of these three pathogens while 524(83%)women were negative for any of these three pathogens but could be positive for other STIs not tested in this study.Since all the patients(634)were given antibiotics,we estimate that the over-treatment was 85%while 524(83%)patients were also misdiagnosed by SCM.Conclusions:The over-treatment and inaccurate diagnosis of pathogens due to subjective judgment based on syndromic approach in symptomatic women is a large economic wastage and may also contribute towards increased resistance.The misdiagnosed patients will also serve as a reservoir for transmission of pathogens to their sexual partner.

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.

Hepatocardiorenal syndrome in liver cirrhosis:Recognition of a new entity?

Emerging evidence and perspectives have pointed towards the heart playing an important role in hepatorenal syndrome(HRS),outside of conventional understanding that liver cirrhosis is traditionally considered the sole origin of a cascade of pathophysiological mechanisms directly affecting the kidneys in this context.In the absence of established heart disease,cirrhotic cardiomyopathy may occur more frequently in those with liver cirrhosis and kidney disease.It is a specific form of cardiac dysfunction characterized by blunted contractile responsiveness to stress stimuli and altered diastolic relaxation with electrophysiological abnormalities.Despite the clinical description of these potential cardiac-related complications of the liver,the role of the heart has traditionally been an overlooked aspect of circulatory dysfunction in HRS.Yet from a physiological sense,temporality(prior onset)of cardiorenal interactions in HRS and positive effects stemming from portosystemic shunting demonstrated an important role of the heart in the development and progression of kidney dysfunction in cirrhotic patients.In this review,we discuss current concepts surrounding how the heart may influence the development and progression of HRS,and the role of systemic inflammation and endothelial dysfunction causing circulatory dysfunction within this setting.The temporality of heart and kidney dysfunction in HRS will be discussed.For a subgroup of patients who receive portosystemic shunting,the dynamics of cardiorenal interactions following treatment is reviewed.Continued research to determine the unknowns in this topic is anticipated,hopefully to further clarify the intricacies surrounding the liver-heart-kidney connection and improve strategies for management.

Effects of high-dose glucose-insulin-potassium on acute coronary syndrome patients receiving reperfusion therapy:a meta-analysis

BACKGROUND:This meta-analysis aimed to assess the efficacy of high-dose glucose-insulinpotassium(GIK) therapy on clinical outcomes in acute coronary syndrome(ACS) patients receiving reperfusion therapy.METHODS:We searched the PubMed,Web of Science,MEDLINE,Embase,and Cochrane Library databases from inception to April 26,2022,for randomized controlled trials(RCTs) that compared high-dose GIK and placebos in ACS patients receiving reperfusion therapy.The primary endpoint was major adverse cardiovascular events(MACEs).RESULTS:Eleven RCTs with 884 patients were ultimately included.Compared with placebos,high-dose GIK markedly reduced MACEs(risk ratio [RR] 0.57,95% confidence interval [95% CI]:0.35 to 0.94,P=0.03) and the risk of heart failure(RR 0.48,95% CI:0.25 to 0.95,P=0.04) and improved the left ventricular ejection fraction(LVEF)(mean difference [MD] 2.12,95% CI:0.40 to 3.92,P=0.02) at 6 months.However,no difference was observed in all-cause mortality at 30 d or 1 year.Additionally,high-dose GIK was significantly associated with increased incidences of phlebitis(RR 4.78,95% CI:1.36 to 16.76,P=0.01),hyperglycemia(RR 9.06,95% CI:1.74 to 47.29,P=0.009) and hypoglycemia(RR 6.50,95% CI:1.28 to 33.01,P=0.02) but not reinfarction,hyperkalemia or secondary reperfusion.In terms of oxidative stress-lowering function,high-dose GIK markedly reduced superoxide dismutase(SOD) activity but not glutathione peroxidase(GSH-Px) or catalase(CAT) activity.CONCLUSION:Patients with ACS receiving reperfusion therapy exhibited a reduction in MACEs and good oxidative stress-lowering eflcacy in response to high-dose GIK.Moreover,with a higher incidence of complications such as phlebitis,hyperglycemia,and hypoglycemia.Furthermore,there were no observed survival benefits associated with high-dose GIK.More trials with long-term follow-up are still needed.

Clinical evolution of antisynthetase syndrome-associated interstitial lung disease after COVID-19 in a man with Klinefelter syndrome:A case report

BACKGROUND This study presents a case of rapidly developing respiratory failure due to antisynthetase syndrome(AS)following coronavirus disease 2019(COVID-19)in a 33-year-old man diagnosed with Klinefelter syndrome(KS).CASE SUMMARY A 33-year-old man with a diagnosis of KS was admitted to the Department of Pulmonary and Critical Care Medicine of a tertiary hospital in China for fever and shortness of breath 2 wk after the onset of COVID-19.Computed tomography of both lungs revealed diffuse multiple patchy heightened shadows in both lungs,accompanied by signs of partial bronchial inflation.Metagenomic next-generation sequencing of the bronchoalveolar lavage fluid suggested absence of pathogen.A biopsy specimen revealed organizing pneumonia with alveolar septal thickening.Additionally,extensive auto-antibody tests showed strong positivity for anti-SSA,anti-SSB,anti-Jo-1,and anti-Ro-52.Following multidisciplinary discussions,the patient received a final diagnosis of AS,leading to rapidly progressing respiratory failure.CONCLUSION This study underscores the clinical progression of AS-associated interstitial lung disease subsequent to viral infections such as COVID-19 in patients diagnosed with KS.

Metabolic syndrome and the urinary microbiome of patients undergoing percutaneous nephrolithotomy

Objective:To identify possible stone-promoting microbes,we compared the profiles of microbes grown from stones of patients with and without metabolic syndrome(MetS).The association between MetS and urinary stone disease is well established,but the exact pathophysiologic relationship remains unknown.Recent evidence suggests urinary tract dysbiosis may lead to increased nephrolithiasis risk.Methods:At the time of percutaneous nephrolithotomy,bladder urine and stone fragments were collected from patients with and without MetS.Both sample types were subjected to expanded quantitative urine culture(EQUC)and 16 S ribosomal RNA gene sequencing.Results:Fifty-seven patients included 12 controls(21.1%)and 45 MetS patients(78.9%).Both cohorts were similar with respect to demographics and non-MetS comorbidities.No controls had uric acid stone composition.By EQUC,bacteria were detected more frequently in MetS stones(42.2%)compared to controls(8.3%)(p=0.041).Bacteria also were more abundant in stones of MetS patients compared to controls.To validate our EQUC results,we performed 16 S ribosomal RNA gene sequencing.In 12/16(75.0%)sequence-positive stones,EQUC reliably isolated at least one species of the sequenced genera.Bacteria were detected in both“infectious”and“non-infectious”stone compositions.Conclusion:Bacteria are more common and more abundant in MetS stones than control stones.Our findings support a role for bacteria in urinary stone disease for patients with MetS regardless of stone composition.

Clinical features and possible pathogenesis of multiple evanescent white dot syndrome with different retinal diseases and events:a narrative review

●Multiple evanescent white dot syndrome(MEWDS)is a rare fundus disease,characterized by acute vision loss and visual field defects.Many previous studies have explained the possible pathogenesis and clinical features of primary MEWDS.However,as the number of reported cases increases,secondary MEWDS occurs in other related retinal diseases and injuries,exhibiting some special characteristics.The associated retinal diseases include multifocal choroiditis/punctate inner choroidopathy(MFC/PIC),acute zonal occult outer retinopathy,best vitelliform macular dystrophy,pseudoxanthoma elasticum,and ocular toxoplasmosis.The related retinal injury is laser photocoagulation,surgery,and trauma.Although primary MEWDS often have a self-limiting course,secondary MEWDS may require treatment in some cases,according to the severity of concomitant diseases and complications.Notably,MEWDS secondary to MFC/PIC that is prone to forming choroidal neovascularization and focal choroidal excavation,needs positive treatment with corticosteroids.The possible underlying pathogenesis of secondary MEWDS is the exposure of choroidal antigen after the disruption of Bruch’s membrane.The MEWDS-related features in secondary MEWDS are still evanescent under most circumstances.Its prognosis and treatment depend on the severity of complications.Current studies propose that the etiology is associated with immune factors,including viral infection,inflammation in choroid and Bruch’s membrane,and antigen exposure caused by retinal and/or choroidal insults.More pathogenic studies should be conducted in the future.Accurate diagnosis for secondary MEWDS could benefit patients in aspects of management and prognosis.