Multiorgan dysfunction syndrome due to high-dose cantharidin poisoning:A case report

BACKGROUND This report delves into the diagnostic and therapeutic journey undertaken by a patient with high-dose cantharidin poisoning and multiorgan dysfunction syndrome(MODS).Particular emphasis is placed on the comprehensive elucidation of the clinical manifestations of high-dose cantharidin poisoning,the intricate path to diagnosis,and the exploration of potential underlying mechanisms.CASE SUMMARY A patient taking 10 g of cantharidin powder orally subsequently developed MODS.The patient was treated with supportive care,fluid hydration and antibiotics,and hemoperfusion and hemofiltration therapy for 24 h and successfully recovered 8 d after hospital admission.Cantharidin poisoning can cause lifethreatening MODS and is rare clinically.This case underscores the challenge in diagnosis and highlights the need for early clinical differentiation to facilitate accurate assessment and prompt intervention.CONCLUSION This article has reported and analyzed the clinical data,diagnosis,treatment,and prognosis of a case of high-dose cantharidin poisoning resulting in MODS and reviewed the relevant literature to improve the clinical understanding of this rare condition.

Clinical Study on the Therapeutic Effect of Combined Traditional Chinese Medicine with Acupoint Injection and Herbal Paste Application in Treating Ovulatory Dysfunction in Polycystic Ovary Syndrome (PCOS)

Objective: To observe the therapeutic effect of combined traditional Chinese medicine (TCM) therapy with acupoint injection and herbal patch application on patients with ovulatory dysfunction associated with polycystic ovary syndrome (PCOS). Methods: A total of 80 PCOS patients who received treatment at the First Affiliated Hospital of Guangxi University of Chinese Medicine between October 2022 and March 2024 were enrolled in this study. They were randomly divided into a control group (n = 40) and an observation group (n = 40). The control group received conventional Western medical treatments, while the observation group was administered TCM combined with acupoint injection and herbal patch application. Pre- and post-treatment conditions were compared between the two groups. Results: After treatment, the overall effective rate was significantly higher in the observation group compared to the control group (P 0.05). Following treatment, both ovulation and pregnancy rates increased in both groups, but the increase was more evident in the observation group, showing a statistically significant difference (P < 0.01). Conclusion: For patients with oligoovulation or anovulation due to PCOS, the combined use of TCM, acupoint injection, and herbal patch application appears to be effective in improving systemic symptoms and achieving notable clinical outcomes.

Bilateral carpal tunnel syndrome and motor dysfunction caused by gout and type 2 diabetes:A case report

BACKGROUND Carpal tunnel syndrome(CTS)has been associated with gout and type 2 diabetes mellitus(T2DM).However,due to insufficient clinical understanding of goutrelated CTS and reliance on the diagnostic importance of elevated serum uric acid levels,such cases are prone to missed diagnosis,misdiagnosis,and delayed treatment.In addition,the effect of T2DM on gout-induced carpal tunnel syndrome has not been reported.CASE SUMMARY Herein,we present an unusual case of CTS and motor dysfunction caused by miliary tophaceous gout and T2DM.The patient presented to the hand and foot clinic with paresthesia of the fingers of both hands,especially at night.The patient was diagnosed with type 2 diabetes a month ago.Ultrasonography revealed bilateral transverse carpal ligament thickening with median nerve compression during hospitalization.The patient was successfully treated with carpal tunnel decompression and tendon release.The postoperative pathological examination revealed typical gout nodules.This case suggests that the presence of T2DM could accelerate tophi formation and worsen CTS symptoms,although no definitive proof in this regard has been described previously.CONCLUSION Tophi formation may most likely cause the co-occurrence of CTS and flexor dysfunction in gout and incipient diabetes patients.

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.

Venopulmonary ECMO Improved Hypoxemia and Supported the Right Ventricle in a Patient with Decompensated Eisenmenger Syndrome

Mechanical circulatory and/or respiratory assistance with extracorporeal membrane oxygenation (ECMO) has become a standard of care for patients with circulatory (venoarterial) and/or respiratory (venovenous) failure refractory to standard therapies. Adult patients with congenital heart disease are an increasingly recognized and growing population and include various groups, such as undiagnosed cases in childhood and palliated and/or corrected cases, which require subsequent care because of residual lesions, cardiac arrest/insufficiency, and arrhythmias, among other conditions. In addition, these patients are prone to developing pathologies that are typical of adulthood with a generally increased risk of morbidity and mortality because of their low reserves and organic damage associated with the underlying heart disease, which makes them candidates for ECMO. These patients represent an additional challenge in this therapy because malformations and the presence of a shunt can generally affect the usual cannulation methods and hemodynamic and oximetry monitoring. Thus, the configuration decision must be made on a case-by-case basis. Here, we present a cannulation method, venopulmonary artery ECMO, which provides hemodynamic and respiratory support, and may be ideal for patients with shunts and/or right ventricular dysfunction. To our knowledge, this is the first report of this configuration in patients with congenital heart diseases.

Clinical Effects of Intensive Insulin Therapy Treating Traumatic Shock Combined with Multiple Organ Dysfunction Syndrome

The therapeutic effects of intensive insulin therapy in treatment of traumatic shock combined with multiple organ dysfunction syndrome （MODS） were investigated. A total of 114 patients with traumatic shock combined with MODS were randomly divided into two groups： control group （n=56） treated with conventional therapy, and intensive insulin therapy group （n=58） treated with conventional therapy plus continuous insulin pumping to control the blood glucose level at range of 4.4-6.1 mmol/L. White blood cells （WBC） counts, prothrombin time （PT）, serum creatinine （SCr）, alanine aminotransferase （ALT）, serum albumin and PaO2 were measured before and at the day 1, 3, 5, 7 and 14 after treatment. The incidence of gastrointestinal dysfunction, the incidence of MODS, hospital stay and the mortality were also observed and compared. After intensive insulin therapy, the WBC counts, SCr, ALT and PT were significantly reduced （P0.05）, but the level of serum albumin was significantly increased （P0.05） at the day 3, 5, 7 and 14. In the meantime, the PaO2 was significantly elevated at the day 3, 5 and 7 （P0.01） after intensive insulin therapy. The incidence of gastrointestinal dysfunction, the incidence of MODS, the length of hospital stay and the mortality were markedly decreased （P0.01）. The results suggest early treatment with intensive insulin therapy is effective for traumatic shock combined with MODS and can decrease the length of hospital stay and the mortality.

Overlapping gastroesophageal reflux disease and irritable bowel syndrome:Increased dysfunctional symptoms

AIM:To investigate the association of gastroesophageal reflux disease (GERD) and irritable bowel syndrome (IBS) in Iranian patients and examine the prevalence of functional symptoms of the gastrointestinal tract in patients presenting with either IBS, GERD or both.METHODS: Six thousand four hundred and seventy six patients presented to the Gastro-intestinal (GI) clinic with symptoms of functional dysfunction of GI tract, 1419 patients (62.0% women, 38.0% men; mean age: 37.4±11.5 years) met Rome or Rome criteria(depending on the year of diagnosis)for IBS.2658 patients were diagnosed with GERD based on clinical presentation and endoscopic findings.We assessed other functional symptoms(epigastric pain,nausea,vomiting,belching,constipation and diarrhea)in patients suffering from GERD,IBS or both.RESULTS: Among IBS subjects, 63.6% (69.0% women, 31.0% men; mean age: 36.4±10.3 years) also hadGERD, whereas 34.7% of the non-IBS patients had GERD [odds ratio (OR) =3.2, 95% confidence interval (CI): 2.9-3.7, P<0.0001]. Among patients with GERD, 33.9% of subjects met Rome criteria compared to 13.5% of non-GERD patients (OR=3.6, 95% CI: 3.1-4.3, P<0.0001). Prevalence of all functional symptoms was higher in overlapping GERD and IBS subjects, when compared with their prevalence in the IBS subjects without GERD or GERD only subjects (P<0.05).CONCLUSION: This finding shows that in overlapping GERD and IBS, other functional abnormalities of the GI tract are also highly prevalent, suggesting a common underlying dysfunction.

Morphological changes in interstitial cells of Cajal in the deep muscular plexus and enteric motor neurons of the intestine in rats with multiple organ dysfunction syndrome

BACKGROUND：Gastrointestinal motility dysfunction in multiple organ dysfunction syndrome （MODS） has been reported to be related to damage to interstitial cells of Cajal （ICC）. In the entedc nervous system, ICC and smooth muscle cells are connected in a network to form a special functional unit. Many gastrointestinal motility dysfunction diseases are associated with damage to this network.OBJECTIVE：To investigate the morphological changes of intestinal ICC, and to explore the mechanisms underlying gastrointestinal motility dysfunction in rats with MODS.DESIGN, TIME AND SE＇I-FING：The randomized, controlled, experiment was performed at the Central Laboratory of the First Affiliated Hospital of Dalian Medical University of China between June 2007 and March 2009.MATERIALS：Escherichia coli （E. colistrain O127 H6） and bovine serum albumin were purchased from Sigma, USA.METHODS：A total of 40 Wistar rats were equally and randomly divided into MODS group and control group. Suspension of E. coil strain O127 H6 containing BaSO4 and saline were sterilely injected into the abdominal cavity of rats in the MODS and control groups, respectively.MAIN OUTCOME MEASURES：Immunohistochemical double-staining and confocal laser scanning microscopy were used to observe the morphological changes in intestinal cholinergic nerves and ICC in the deep muscular plexus network. Electron microscopy was employed to evaluate the ultrastructural features of ICC in the deep muscular plexus of rats with MODS.RESULTS：Compared with the control group, the distributions and densities of cholinergic/nitrergic newes and ICC in the deep muscular plexus were significantly decreased in the MODS group （P 〈 0.01）. The enteric nerve-ICC network were disrupted.CONCLUSION：There is ultrastructural injury in the ICC in the deep muscular plexus and enteric nerves of the intestine in rats with MODS, which may be associated with the dysmotility of the gastrointestinal tract in MODS.

Application of bedside continuous blood purification in patients with multiple organ dysfunction syndromes

BACKGROUND:The complications of systemic inflammatory response syndrome(SIRS)include acute lung injury,acute kidney injury,shock,and multiple organ dysfunction syndrome(MODS).In recent years,how to clear inflammatory mediators has become a hot topic in critical care medicine.Researchers hypothesize that continuous blood purification(CBP) can effectively eliminate a variety of inflammatory mediators which participate in the occurrence of MODS and adjust the immune imbalance.This study aimed to observe the effects of CBP in MODS patients.METHODS:In this retrospective clinical study,a total of 38 MODS patients,18 males and 20 females,were enrolled.After conventional therapy,all the patients received CBP.Biochemistry,blood gas analysis,oxygenation index,mean arterial blood pressure(MAP),acute physiology and chronic health evaluation(APACHE) II scores were monitored.RESULTS:After CBP,the vital signs of patients were rapidly stable,and electrolyte disorders and acid-base imbalance were corrected.Renal function,blood gas,oxygenation index were all improved.MAP was increased,and APACHE II score was significantly decreased.All patients had good tolerance,stable hemodynamics,and no obvious adverse reaction on CBP compared with pre-CBP.CONCLUSION:CBP can effectively clean toxins,correct electrolyte acid-base balance,and improve systemic inflammatory response syndrome and the organ function of MODS patients.

Animal model of non-bacterial multiple organ dysfunction syndrome in the elderly

Objective To establish a model of multiple organ dysfunction syndrome in the elderly (MODSE) by intraperitoneal injection of different doses of zymosan, and to compare the multiple organ dysfunction syndrome (MODS) in adult and in the elderly rats. Methods Adult and senile rats, injected with different doses of zymosan intraperitoneally were examined for the changes in the function and morphology of the vital organs, including heart, liver, brain, lungs, and kidneys using blood gas and biochemistry analysis and histopathological examination methods. Results Compared with the normal controls of the adult and the elderly rats, the blood gas and blood biochemistry changed in different degrees in the different dosed zymosan groups. Pathological changes were also found in the vital organs including lungs, heart, liver, brain, kidneys, erc in the experimental groups. Under the same concentrations of zymosan, the reductions in respiratory, cardiac and renal functions in the senile groups were much more severe than those in the corresponding adult group. In the similar degree of model duplication, the senile rats had the tendency to die later than the adult rats. Conclusions Zymosan can be used in both elderly and adult rats to induce MODS model, and the best dosage for MODSE was 0.Sg/kg injected peritoneally. The model would hopefully be used in the study of mechanisms and the therapeutics on MODSE.

Relationship between metabolic syndrome and erectile dysfunction

Aim: To determine the relationship between metabolic syndrome (MS) and erectile dysfunction (ED) and to see which risk factors correlated the best with ED. Methods: Seventy-nine cardiology clinic outpatients with coronary artery disease (CAD) and lipid metabolism disorder were recruited. They were categorized as having MS, hypertension (blood pressure greater than 130/85 mmHg) and dyslipidemia. ED was classified based on International Index of Erectile Function scores. Patients were grouped into quartiles based on body mass index (BMI). Chi-square, Pearson's correlation and regression tests were used for statistical analysis. Results: The mean age of the patients was 56.6 years. ED was diagnosed in 59 (74.7 %) of the 79 patients. In the 38 patients with MS, all had ED. ED was not significantly correlated with cholesterol levels (P > 0.05), but was found often in patients who had both hyperc-holesterolemia and HT (P<0.01). Nineteen(76 %) of the 25 patients who had dyslipidemia had ED. However, ED was not significantly correlated with dyslipidemia (P > 0.05). Tweenty-two of the 23 patients who had BMI greater than 30 had ED, which was significantly more prevalent than that in those who had normal BMI (P<0.01). ED was seen in 38 of 53 smoker patients. Although ED was more prevalent in cigarette smokers, it was not significantly different from non-smokers (P>0.5). Conclusion: ED is present in a high percentage of patients with MS. Among multiple risk factors for ED, MS correlates the most highly. The next most important risk group is the patients with hypertension +hypercholestrolemia and obesity (BMI > 30).

Two novel VPS33B mutations in a patient with arthrogryposis,renal dysfunction and cholestasis syndrome in China's Mainland

Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome is a rare genetic disorder and has not been described in China. We present a female infant with neonatal intrahepatic cholestasis from a Chinese family with ARC syndrome. All 23 coding exons and flanking introns of the VPS33B gene were amplified and sequenced using peripheral lymphocyte genomic DNA of the patient and her parents. Genetic testing revealed two novel mutations (c.1033delA and c.1567C&#x0003e;T) in the VPS33B gene. The patient is a compound heterozygote and her parents were heterozygous for each of the mutations.

Are age, anthropometry and components of metabolic syndrome-risk factors interrelated with lower urinary tract symptoms in patients with erectile dysfunction？ A prospective study

Aim： To evaluate the effects of metabolic profiles on lower urinary tract symptoms （LUTS） in men with erectile dysfunction （ED）. Methods： A total of 75 impotent men aged 25-75 years old （mean 58.1 years） were included in the study on a prospective basis. Patients were evaluated with a complete history, physical examination, anthropometry and metabolic profiles. LUTS were assessed using the International Prostate Symptom Score （IPSS）. Results： Overall, there was no correlation between the IPSS and continuous parameters. However, when continuous variables were categorized, some parameters were significantly associated with LUTS. Patients with triglyceride level of 150 mg/dL or higher had more severe symptoms than those with tiglyceride levels less than 150 mg/dL （19.4±2.4 vs. 14.3±1.1, P = 0.033）. When 40 mg/dL was chosen as the high-density lipoprotein （HDL）-cholesterol cut-off level, the IPSS was significantly different between the two groups divided by 40 mg/dL （19.4±2.6 for HDL-cholesterol 〈 40 mg/dL vs. 14.4±1.0 for HDL-cholesterol 2 40 mg/dL, P = 0.042）. The area under the receiver operating characteristic curve （AUROCC） of triglyceride was 65.7% （95% confidence interval [CI], 52.6%-82.3%; P = 0.034） for severe LUTS. However, the AUROCC for ＇HDL-cholesterol＇ was not significant （area, 65.4%; 95% CI, 48.2%-82.7%; P = 0.062）. No other factors were determined to be significant in this regard. Conclusion： The results of the present study indicate that some metabolic profiles might influence LUTS in men with ED.

Blood hemoperfusion with resin adsorption combined continuous veno-venous hemofiltration for patients with multiple organ dysfunction syndrome

BACKGROUND:Blood hemoperfusion with resin adsorption can clean larger molecules that exceed the molecular weight cutoff of combined continuous veno-venous hemofiltration(CWH).Hence blood hemoperfusion with resin adsorption combined CWH(HP+CWH) has higher ability of mediator clearance,and can improve clinical outcomes in theory.This study aimed to investigate the effect of blood hemoperfusion with resin adsorption combined continuous veno-venous hemofiltration(HP+CWH) on plasm cytokines like TNF-α,IL-1β,IL-6,cellular immunity and prognosis in patients with multiple organ dysfunction syndrome(MODS).METHODS:This was a prospective,randomized clinical trial.A total of 30 patients who had been diagnosed with MODS were enrolled in this study.Patients were randomly allocated to routine treatment+HP+CWH group(treatment group) and routine treatment+only CWH group(control group).In the treatment group,patients received blood hemoperfusion with resin adsorption for 2hours,and then received CWH for 10 hours every day.In the control group,patients received CWH for 12 hours only every day.The patients in the two groups received blood purification therapy for three days.The plasma of patients in the treatment group was obtained at 0,2,12,24,26,36,48,50,60 hours,5th day,7th day and 10 th day,respectively.The plasma of patients in the control group was obtained at 0,12,24,36,48,60 hours,5th day,7th day and 10 th day,respectively.APACHE Ⅱscore,T-lymphocytes subpopulations,blood lactate acid concentration,heart rate,breathing rate,and oxygenation index were observed.RESULTS:Plasma cytokines like TNF-α,IL-1β,IL-6 decreased markedly after HP(P<0.01);T-lymphocytes subpopulations CD3+,CD4+,CD8+,CD4+/CD8+ increased after HP+CWH or only CWH.The plasma concentrations of TNF-α,IL-1β and IL-6 in the two groups were not markedly different at 12,36,and 50 hours.But on the 5th day,the plasma concentrations of TNF-α,IL-1β and IL-6 in the treatment group were lower than those in the control group(P<0.05).On the 28 th day,5patients died in the treatment group,and 6 patients in the control group.CONCLUSIONS:Both HP+CWH and CWH can clean plasma cytokines like TNF-α,IL-1β,and IL-6,and improve cellular immunity and clinical symptoms and signs of patients.Compared with only CWH,the plasma concentrations of TNF-α,IL-1β and IL-6 were lower on the 5th day,and patients have an increased survival rate on the 28 day in the HP+CWH group.

Utility of “loco-check,” self-checklist for “locomotive syndrome” as a tool for estimating the physical dysfunction of elderly people

Aim: A new concept of locomotive syndrome has been proposed by the Japanese Orthopaedic Association. The aim of this study is to clarify the utility of its self-checklist, “loco-check,” as a tool for estimating the physical dysfunction of elderly people. Methods: Subjects were 1124 community-dwelling Japanese people, 557 men and 567 women, aged 40-89 years. Information about the seven “loco-check” items was obtained from present inquiry sheets. Physical functions were examined by grip strength, knee extension strength, walking speed and one-leg standing time with open eyes. The averages of these test values, controlled for age and BMI, were compared between the “loco-check” (+) group and the “loco-check” (-) group. Also we examined about the trend of decline of physical function, together with SF36 physical function subscale score, as the number of the items chosen increased. Results: Adjusted average values of all four physical function examinations in the “lococheck” (+) group were significantly lower than those of the “loco-check” (-) group (all, p . Also the adjusted average values of the majority of four tests were significantly lower in those who checked each of the “loco-check” items than those who did not, for most of the items. It was also revealed that the more items subjects checked, the lower the adjusted average values were, except for one-leg standing time. It was also the case with SF36 physical function subscale score. Conclusion: We showed the utility of “loco-check” as a simple tool not only for noticing the physical dysfunction of elderly people, but also for estimating the extent of it, except for balancing ability, particularly by counting the number of checked items.

Comparison of the meibomian gland dysfunction in patients with chronic ocular graft-versus-host disease and Sjogren's syndrome

AIM: To investigate the abnormalities in the meibomian gland in patients with dry eye disease(DED) associated with chronic ocular graft-versus-host disease(coGVHD) in comparison with Sj?gren's syndrome(SS), a major form of aqueous deficient DED and meibomian gland dysfunction(MGD), a common cause of evaporative DED.METHODS: A total 135 eyes of 135 subjects included in this study: patients with DED associated with coGVHD(n=30), patients with SS(n=35), patients with MGD(n=35), and normal controls(n=35). All participants completed the Ocular Surface Disease Index(OSDI) questionnaire, ocular surface examination [Schirmer test, tear film breakup time(TFBUT), and ocular surface staining], and meibomian gland assessment [meiboscore(gland dropout detected on meibography using infrared camera of the Keratograph 5 M), meibum expressibility score(MES), meibum quality score(MQS), lid margin abnormality]. In addition, correlations of meibomian gland characteristics with ocular surface parameters as well as disease severity score were investigated in coGVHD group.RESULTS: The coGVHD group showed significantly higher meiboscore, MES, and MQS than the other 3 groups(all P<0.05). In the coGVHD group, parameters of meibomian gland showed a significant correlation each other and those of ocular surface. The correlation between meibomian gland parameters and severity score of co GVHD was also established(meiboscore, r=0.62; MES, r=0.47; MQS, r=0.47; lid margin abnormality score, r=0.55; all P<0.05).CONCLUSION: Patients with DED associated with co GVHD show poorer gland morphology and worse glandfunction than other types of DED. In addition, meibomian gland damage is not only associated with ocular surface damage but also disease severity of coGVHD.

A Severe Case of Reye’s Syndrome with Multiorgan Dysfunction after Epstein-Barr Virus Infection

A 20-month-old male infant with multiorgan dysfunction after Epstein-Barr virus(EBV)infection developed Reye’s syndrome.He also suffered from acute liver failure,life-threatening cerebral edema,severe disseminated intravascular coagulation(DIC),and myocardial involvement.EBV infection aggravated the progress of Reye’s syndrome,leading to death despite full supportive and symptomatic therapy.This critical case suggested that pediatricians should pay attention to multiorgan involvement of severe EBV infection.

ACTA2 mutation is responsible for multisystemic smooth muscle dysfunction syndrome with seizures:A case report and review of literature

BACKGROUND ACTA2 gene is a specific gene that encodes actinα2.Multisystem smooth muscle dysfunction syndrome(MSMDS)is a multisystem disease characterized by aortic and cerebrovascular lesions caused by ACTA2 gene mutations.There have been many reports of cardiac,pulmonary and cerebrovascular lesions caused by MSMDS;however,few studies have focused on seizures caused by MSMDS.CASE SUMMARY Our patient was a girl aged 7 years and 8 mo with recurrent cough,asthma and seizures for 7 years.She was diagnosed with severe pneumonia,congenital heart disease,cardiac insufficiency,and malnutrition in the local hospital.Cardiac ultrasonography revealed congenital heart disease,patent ductus arteriosus(with a diameter of 0.68 cm),left coronary arteriectasis,patent oval foramen(0.12 cm),tricuspid and pulmonary regurgitation,and pulmonary hypertension.Cerebral magnetic resonance imaging and magnetic resonance angiography indicated stiffness in the brain vessels,together with multiple aberrant signaling shadows in bilateral paraventricular regions.A heterozygous mutation(c.536G>A)was identified in the ACTA2 gene,resulting in generation of p.R179H.Finally,the girl was diagnosed with MSMDS combined with epilepsy.The patient had 4 episodes of seizures before treatment,and no onset of seizure was reported after oral administration of sodium valproate for 1 year.CONCLUSION MSMDS has a variety of clinical manifestations and unique cranial imaging features.Cerebrovascular injury and white matter injury may lead to seizures.Gene detection can confirm the diagnosis and prevent missed diagnosis or misdiagnosis.

Multisystem smooth muscle dysfunction syndrome in a Chinese girl:A case report and review of the literature

BACKGROUND Multisystemic smooth muscle dysfunction syndrome(MSMDS) is a rare genetic disease worldwide. The main mutation is the actin alpha 2(ACTA2) gene p.R179 H. In this paper, we report a Chinese MSMDS patient and systematically review the previous literature.CASE SUMMARY Here, we report a 9.6-month-old Chinese girl who was diagnosed with MSMDS based on her history and symptoms, such as recurrent cough, wheezing, and complications with congenital fixed dilated pupils. Chest high-resolution computed tomography revealed inhomogeneous lung transparency, obvious exudative lesions, and some lung fissures that were markedly thickened. Cranial magnetic resonance imaging excluded bleeding and infarction but showed abnormal signals in the centrum ovale majus and bilateral periventricular regions. Echocardiography only showed patent foramen ovale, and no patent ductus arteriosus, pulmonary artery dilatation, or pulmonary hypertension was found. Bronchoscopy indicated moderate bronchial malacia. These examinations in conjunction with the typical eye abnormality suggested a diagnosis of MSMDS, and sequencing of exon 6 of the ACTA2 gene demonstrated the heterozygous mutation c.536 G>A, p.R179 H. However, her parents' gene analyses were normal.CONCLUSION MSMDS is a rare genetic disease mainly caused by the mutation of the ACTA2 gene p.R179 H. Early genetic diagnosis should be performed for children presenting with congenital fixed dilated pupils and patent ductus arteriosus.During the process of diagnosis and treatment, clinicians should be on high alert for cerebrovascular, cardiovascular, and pulmonary complications.

Novel rat model of multiple mitochondrial dysfunction syndromes(MMDS)complicated with cardiomyopathy

Background:Multiple mitochondrial dysfunction syndromes(MMDS)presents as complex mitochondrial damage,thus impairing a variety of metabolic pathways.Heart dysplasia has been reported in MMDS patients;however,the specific clinical symptoms and pathogenesis remain unclear.More urgently,there is a lack of an animal model to aid research.Therefore,we selected a reported MMDS causal gene,Isca1,and established an animal model of MMDS complicated with cardiac dysplasia.Methods:The myocardium-specific Isca1 knockout heterozygote(Isca1 HET)rat was obtained by crossing the Isca1 conditional knockout(Isca1 cKO)rat with theαmyosin heavy chain Cre(α-MHC-Cre)rat.Cardiac development characteristics were determined by ECG,blood pressure measurement,echocardiography and histopatho-logical analysis.The responsiveness to pathological stimuli were observed through adriamycin treatment.Mitochondria and metabolism disorder were determined by activity analysis of mitochondrial respiratory chain complex and ATP production in myocardium.Results:ISCA1 expression in myocardium exhibited a semizygous effect.Isca1 HET rats exhibited dilated cardiomyopathy characteristics,including thin-walled ventri-cles,larger chambers,cardiac dysfunction and myocardium fibrosis.Downregulated ISCA1 led to deteriorating cardiac pathological processes at the global and organiza-tional levels.Meanwhile,HET rats exhibited typical MMDS characteristics,including damaged mitochondrial morphology and enzyme activity for mitochondrial respira-tory chain complexesⅠ,ⅡandⅣ,and impaired ATP production.Conclusion:We have established a rat model of MMDS complicated with cardiomyopathy,it can also be used as model of myocardial energy metabolism dysfunction and mitochondrial cardiomyopathy.This model can be applied to the study of the mechanism of energy metabolism in cardiovascular diseases,as well as research and development of drugs.