Development of pulmonary hypertension remains a major hurdle to corrective surgery in Down syndrome

Down syndrome is the most common chromosomal abnormality encountered in clinical practice with 50%of them having associated congenital heart disease(CHD).Shunt lesions account for around 75%of all CHDs in Down syndrome.Down syndrome patients,especially with large shunts are particularly predisposed to early development of severe pulmonary hypertension(PH)compared with shunt lesions in general population.This necessitates timely surgical correction which remains the only viable option to prevent long term morbidity and mortality.However,despite clear recommendations,there is wide gap between actual practice and fear of underlying PH which often leads to surgical refusals in Down syndrome even when the shunt is reversible.Another peculiarity is that Down syndrome patients can develop PH even after successful correction of shunt.It is not uncommon to come across Down syndrome patients with uncorrected shunts in adulthood with irreversible PH at which stage intracardiac repair is contraindicated and the only option available is a combined heartlung transplant.However,despite the guidelines laid by authorities,the rates of cardiac transplant in adult Down syndrome remain dismal largely attributable to the high prevalence of intellectual disability in them.The index case presents a real-world scenario highlighting the impact of severe PH on treatment strategies and discrimination driven by the fear of worse outcomes in these patients.

Assessing the impact of concurrent high-fructose and highsaturated fat diets on pediatric metabolic syndrome:A review

High-saturated fat(HF)or high-fructose(HFr)consumption in children predispose them to metabolic syndrome(MetS).In rodent models of MetS,diets containing individually HF or HFr lead to a variable degree of MetS.Nevertheless,simultaneous intake of HF plus HFr have synergistic effects,worsening MetS outcomes.In children,the effects of HF or HFr intake usually have been addressed individually.Therefore,we have reviewed the outcomes of HF or HFr diets in children,and we compare them with the effects reported in rodents.In humans,HFr intake causes increased lipogenesis,hypertriglyceridemia,obesity and insulin resistance.On the other hand,HF diets promote low grade-inflammation,obesity,insulin resistance.Despite the deleterious effects of simultaneous HF plus HFr intake on MetS development in rodents,there is little information about the combined effects of HF plus HFr intake in children.The aim of this review is to warn about this issue,as individually addressing the effects produced by HF or HFr may underestimate the severity of the outcomes of Western diet intake in the pediatric population.We consider that this is an alarming issue that needs to be assessed,as the simultaneous intake of HF plus HFr is common on fast food menus.

Effects of TCM Nursing Based on Syndrome Differentiation on Pulmonary Function and Quality of Life in Patients with Acute Exacerbation of COPD

[Objectives] To investigate the effects of TCM nursing based on syndrome differentiation on pulmonary function and quality of life in patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD). [Methods] A total of 92 patients with AECOPD who came to Nanchong Chinese Medicine Hospital from March 2022 to February 2023 were selected for the study, and the intervention group (TCM nursing based on syndrome differentiation, 46 cases) and the conventional group (basic nursing, 46 cases) were selected for the study, and the pulmonary function and quality of life of the two groups were compared. [Results] Before nursing, there was no significant difference in levels of forced vital capacity (FVC), forced expiratory volume in one second (FEV1), and percentage of forced expiratory volume in one second to forced vital capacity (FEV1/FVC) between the intervention group and conventional group ( P >0.05). After 3 months of nursing, the levels of FVC, FEV1 and FEV1/FVC in the intervention group were higher than those in the conventional group ( P <0.05). Before nursing, there was no significant difference in the scores of health, emotion and social functions between the two groups ( P >0.05). At three months of nursing, the scores of health, emotion, and social functions in the intervention group were higher than those in the conventional group ( P <0.05). [Conclusions] The implementation of TCM nursing based on syndrome differentiation in patients with AECOPD can effectively improve the pulmonary function and quality of life of patients, and has significant clinical implementation value.

Congenital heart“Challenges”in Down syndrome

In this editorial,we comment on the article by Kong et al published in the recent issue of the World Journal of Cardiology.In this interesting case,the authors present the challenges faced in managing a 13-year-old patient with Down syndrome(DS)and congenital heart disease(CHD)associated with pulmonary arterial hypertension.In this distinct population,the Authors underscore the need for early diagnosis and management as well as the need of a multidisciplinary approach for decision making.It seems that the occurrence of CHD in patients with DS adds layers of complexity to their clinical management.This editorial aims to provide a comprehensive overview of the intricate interplay between DS and congenital heart disorders,offering insights into the nuanced diagnostic and therapeutic considerations for physicians.

Pediatric Nephrotic Syndrome in a Cameroonian Cohorte: The Beast to Slaughter

Background: Idiopathic nephrotic syndrome (INS) is a frequent pathology in children. There is little data on the future of NS in children in sub-Saharan Africa, particularly Cameroon. The aim of our study is to report the prognosis of children treated for nephrotic syndrome in the city of Yaoundé. Method: This was an analytical cross-sectional study with retrospective collection in 4 reference hospitals in the Cameroonian capital over a period of five years from January 1, 2018 to December 31, 2022. We included all medical records of patients treated for idiopathic INS. We excluded incomplete records and those with a history of chronic kidney disease. The sociodemographic, clinical, paraclinical, and therapeutic data, as well as the short-term evolution were collected in the files. Data was analysed using the software statistical package for social sciences version 25.0. Statistical significance was set at a p-value Results: A total of 131 children (58% boys) were included in our study over a period of 5 years. The median age was 8 [6 - 11] years. Median proteinuria was 5 g/24h [3 - 8.4], median serum protein was 39 [34 - 46] g/l and median estimated glomerular filtration rate was 130.36 [68 - 174.6] ml/min/1.73m2. During steroid therapy, 45.07% were in partial remission at 2 months, 16.9% were in complete remission at 4 and 6 months, and 37.25% had relapsed. Steroid sensitivity was reported in 28.17% of cases, steroid resistance in 64.78% of cases and steroid dependent in 7.04% of cases. The mortality rate was 12.97%. Survival time averaged 48.2 months, with an overall crude survival rate of 99.2% at 3 and 6 months and 98.4% at 1 year. Regarding renal survival, renal function was impaired in 8.33% of patients at 6 months and 9% at 12 months. Conclusion: Idiopathic nephrotic syndrome is a common disease in children. Its evolution depends on corticosteroid therapy. The long-term prognosis is dominated by the risk of progression to end-stage kidney disease or even death. Rigorous and affordable follow-up is essential to reduce the number of patients lost to follow-up and the occurrence of complications.

Acute Thoracic Syndrome in Children: Epidemiological, Diagnostic and Evolutionary Aspects at the Albert Royer National Children’s Hospital in Dakar Senegal

Acute chest syndrome (ACS) is a serious pulmonary complication of sickle cell disease. It is estimated to be responsible for a quarter of deaths in the pediatric sickle cell population. In Senegal, there are not enough pediatric studies in this area. The objective of our study was to determine the epidemiological, diagnostic and evolutionary characteristics of ATS at the Albert Royer National Children’s Hospital (CHNEAR) in Dakar. This was a retrospective study in patients hospitalized at CHNEAR for ATS from January 1, 2021 to March 31, 2022. We included patients hospitalized and diagnosed with ATS. We had collected 102 patients, i.e. a hospital incidence of 2.96%. The average age of the children was 9 years old;the sex ratio was 1.04. The main symptoms on admission were hypoxemia (97.06%), chest pain (77.45%), dyspnea (77.45%) and fever (65.69%). 52.94% of patients had an associated vaso-occlusive crisis (VOC). The chest x-ray was abnormal in 92 patients, a rate of 90.20% and showed images of pneumonia (71%);bronchitis (17.65%) and pleurisy (0.98%). None of the children benefited from a pulmonary ultrasound. The treatment associated with analgesics (100%), broad-spectrum antibiotics (100%), oxygen therapy (100%), hydration (95.09%), transfusion (73.53%), non-ventilation invasive (6.86%), intubation (2.94%) and beta 2 mimetics (12.75%). No patient benefited from incentive spirometry. Almost all of the patients 95.10% (n = 97) had a favorable clinical evolution. However, five children (4.90%) had an unfavorable outcome including one case of complication such as stroke (0.98%) and four (4) cases of death. The average hospital stay was 8 days. ATS is common in children with sickle cell disease in Senegal and its etiologies seem to be dominated by infectious causes in our context.

Childhood-onset inflammatory bowel diseases associated with mutation of Wiskott-Aldrich syndrome protein gene

AIM To screen primary immunodeficiency,Wiskott-Aldrich syndrome(WAS),and chronic granulomatous disease(CGD) among children with inflammatory bowel disease(IBD).METHODS This was a single-center retrospective study. Eighteen children with IBD were investigated. We analyzed their expression of Wiskott-Aldrich syndrome protein(WASP) in lymphocytes and superoxide generation in phagocytes using flow cytometry. When the expression of WASP or superoxide generation was low or absent,we performed genetic analysis to determine the cause of this. RESULTS Eighteen patients were classified as having ulcerative colitis(n = 10),Crohn's disease(n = 5),or IBDunclassified(n = 3). In total,three patients revealed low expression of WASP associated with a WAS gene c.1378 C>T p.Pro460 Ser mutation,which has previously been reported as a pathogenic mutation in WAS and X-linked thrombocytopenia. However,with respect to the major symptoms of WAS,none of these three patients showed either thrombocytopenia or increased susceptibility to infection,but one patient showed generalized eczema. No CGD patients were discovered in this study.CONCLUSION Despite the lack of typical clinical manifestations of WAS,low expression of WASP could be associated with the pathogenesis of a subtype of IBD patients.

Exploring the biological mechanism of qi deficiency syndrome with chronic obstructive pulmonary disease(COPD)based on integrated pharmacology

Objective:To explore the potential biological mechanism of chronic obstructive pulmonary disease(COPD)qi deficiency syndrome,we used the integrated pharmacology network computing platform and carried out experimental verification.Methods:Using an integrated pharmacology strategy to analyze the potential biological targets of COPD qi deficiency syndrome.Based on the established qi deficiency syndrome rat model of COPD,the biological targets of lung and skeletal muscle were detected by electron microscopy,adenosine triphosphate(ATP)content assays,and western blotting.Results:According to the integrated pharmacological results,it was found that the locations of cell components related to COPD qi deficiency syndrome were mainly mitochondria.Electron microscopy results using lung tissue showed that mitochondria in the lipopolysaccharide(LPS group)and pulmonary instillation of LPS combined with cigarette smoke(LPStCS group)were swollen,deformed,and fragmented,with disappearing or broken crista.Results also showed that the total content of ATP in the lung and skeletal muscle of both groups was significantly lower than that in the control group at the 12th week(P<.05).At the 12th week,the expression of dynamin-related protein 1(DRP1)and mitofusin 1(MFN1)protein was significantly difference than that of the control group(P<.05).At the 10th and 14th weeks,changes in fission and fusion proteins in mitochondria of the lung and skeletal muscle were further detected.There was also a significant difference in the expression between the two groups compared to that in the control group at the 10th week and 14th week(P<.05).Conclusion:These findings suggest that the changes in mitochondrial morphology and ATP content and the unbalanced expression of DRP1 and MFN1 might be the key mechanisms underlying qi deficiency syndrome in rats with COPD.

Evaluate the effects of metabolic syndrome in adolescents and children

The metabolic syndrome(MS)in adolescents and children can cause serious consequences that lead researchers to pay efforts to study in such area.Presently,MS definition is still not standardized.Different versions of MS definition have been used by numerous studies,which may be a problem to identify MS and then to predict and prevent clinical diseases.The pediatric literature shows that insulin resistance and obesity might be the key underlying pathophysiology of MS to cause many related diseases.High prevalence of MS is in overweight and obese children and adolescents.This article focuses on such above issues and also effects of MS on two main disease outcomes:cardiovascular disease and type 2 diabetes.

Prevalence of pulmonary hypertension among children with Down syndrome:A systematic review and meta-analysis

BACKGROUND Pulmonary hypertension(PH)has serious short-and long-term consequences.PH is gaining increasing importance in high risk groups such as Down syndrome(DS)as it influences their overall survival and prognosis.Hence,there is a dire need to collate the prevalence rates of PH in order to undertake definitive measures for early diagnosis and management.AIM To determine the prevalence of PH in children with DS.METHODS The authors individually conducted a search of electronic databases manually(Cochrane library,PubMed,EMBASE,Scopus,Web of Science).Data extraction and quality control were independently performed by two reviewers and a third reviewer resolved any conflicts of opinion.The words used in the literature search were“pulmonary hypertension”and“pulmonary arterial hypertension”;“Down syndrome”and“trisomy 21”and“prevalence”.The data were analyzed by Comprehensive Meta-Analysis Software Version 2.Risk of bias assessment and STROBE checklist were used for quality assessment.RESULTS Of 1578 articles identified,17 were selected for final analysis.The pooled prevalence of PH in these studies was 25.5%.Subgroup analysis was carried out for age,gender,region,year of publication,risk of bias and etiology of PH.CONCLUSION This review highlights the increasing prevalence of PH in children with DS.It is crucial for pediatricians to be aware of this morbid disease and channel their efforts towards earlier diagnosis and successful management.Community-based studies with a larger sample size of children with DS should be carried out to better characterize the epidemiology and underlying etiology of PH in DS.

Professor Chen Xianhai's experience of herb pairs in the treatment of pulmonary diseases

According to the theory of traditional Chinese medicine,based on the four properties and five flavors of traditional Chinese medicines,the lifting and lowering theory and channel tropism,Professor Chen combined with the theory of traditional Chinese medicine and constitution identification to prescribe for patients and used herb pairs to treat many kinds of pulmonary diseases.And he has achieved good clinical effect by"treatment methods selection according to syndromes".His experience in medication and compatibility mechanism are worthy of further exploration and promotion by scholars.

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.

Association between orofacial granulomatosis and Crohn's disease in children:Systematic review

AIM: To review pediatric cases of orofacial granulomatosis (OFG), report disease characteristics, and explore the association between OFG and Crohn&#x02019;s disease.

Growth hormone ameliorates hepatopulmonary syndrome and nonalcoholic steatohepatitis secondary to hypopituitarism in a child:A case report

BACKGROUND Craniopharyngioma is a benign tumor that usually develops in children;however,it is located in the center and close to sensitive structures,such as the pituitary gland and hypothalamus.As the hypothalamus plays a crucial role in the homeostasis of anterior pituitary hormone synthesis,damage to the hypothalamus leads to multiple pituitary hormone deficiencies and non-alcoholic fatty liver disease,including hepatopulmonary syndrome(HPS).HPS has limited treatment and poor prognosis.CASE SUMMARY A girl aged 13 years and 6 mo underwent surgery for craniopharyngioma 6 years prior.Right craniotomy was performed with total resection via the corpus callosum approach,and the tumor at the base was approximately 3.5 cm×3.5 cm×4.0 cm.At 1 year postoperatively,she exhibited abdominal distension and weakness,and the laboratory tests revealed fatty liver disease.Thereafter,she had not visited the outpatient clinic for 2 years.Two years ago,she developed decreased activity endurance,severe cyanosis,chest tightness,wheezing,and intermittent and recurrent low fever after mild physical labor.Hepatobiliary ultrasonography,liver biopsy,and contrast echocardiography of the right heart showed cirrhosis and multiple pituitary hormone deficiencies,indicating HPS.After 1 year of treatment with recombinant human growth hormone,the liver function and oxygenation improved;she did not undergo liver transplantation.CONCLUSION Craniopharyngioma surgery can easily cause hypopituitarism,which can lead to nonalcoholic steatohepatitis and HPS in children.Early growth hormone therapy is important to improve the prognosis of these diseases.

Valvuloplasty of fetal pulmonary atresia with intact ventricular septum and hypoplastic right heart: Mid-term follow-up results

Objective:This study aimed to analyze and evaluate the results of mid-term follow-up after fetal pulmonary valvuloplasty(FPV)in fetuses with pulmonary atresia with intact ventricular septum(PA/IVS).Methods:From August 31,2018,to May 31,2019,seven fetuses with PA/IVS and hypoplastic right heart were included in this study.All underwent echocardiography by the same specialist and were operated on by the same team.Intervention and echocardiography data were collected,and changes in the associated indices noted during follow-up were analyzed.Results:All seven fetuses successfully underwent FPV.The median gestational age at FPV was 27.54 weeks.The average FPV procedural time was 6 min.Persistent bradycardia requiring treatment occurred in 4/7 procedures.Finally,five pregnancies were successfully delivered,and the other two were aborted.Compared to data before fetal cardiac interventions(FCI),tricuspid valve annulus diameter/mitral valve annulus diameter(TV/MV)and right ventricle diameter/left ventricle diameter(RV/LV)of all fetuses had progressively improved.The maximum tricuspid regurgitation velocity decreased from 4.60 m/s to 3.64 m/s.The average follow-up time was 30.40±2.05 months.During the follow-up period,the diameter of the tricuspid valve ring in five children continued to improve,and the development rate of the tricuspid valve was relatively obvious from 6 months to 1 year after birth.However,the development of the right ventricle after birth was relatively slow.It was discovered that there were individual variations in the development of the right ventricle during follow-up.Conclusion:The findings support the potential for the development of the right ventricle and tricuspid valve in fetuses with PA/IVS who underwent FCI.Development of the right ventricle and tricuspid valve does not occur synchronously during pregnancy.The right ventricle develops rapidly in utero,but the development of tricuspid valve is more apparent after birth than in utero.

Pediatric multisystem inflammatory syndrome associated with COVID-19: Insights in pathogenesis and clinical management

The pandemic caused by severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)infection has been a major challenge to be faced in recent years.While adults suffered the highest morbidity and mortality rates of coronavirus disease 2019,children were thought to be exclusively asymptomatic or to present with mild conditions.However,around April 2020,there was an outbreak of a new clinical syndrome related to SARS-CoV-2 in children-multisystemic inflam-matory syndrome in children(MIS-C)-which comprises a severe and uncon-trolled hyperinflammatory response with multiorgan involvement.The Centers for Disease Control and Prevention considers a suspected case of MIS-C an individual aged<21 years presenting with fever,high inflammatory markers levels,and evidence of clinically severe illness,with multisystem(>2)organ involvement,no alternative plausible diagnoses,and positive for recent SARS-CoV-2 infection.Despite its severity,there are no definitive disease management guidelines for this condition.Conversely,the complex pathogenesis of MIS-C is still not completely understood,although it seems to rely upon immune dysregu-lation.Hence,in this study,we aim to bring together current evidence regarding the pathogenic mechanisms of MIS-C,clinical picture and management,in order to provide insights for clinical practice and implications for future research directions.

Multi-System Inflammatory Syndrome in Children (MIS-C), Kawasaki Disease and Toxic Shock Syndrome so Different and Similar

Children are infected with Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), but they are asymptomatic or suffer a mild disease compared to adults. However, the post-infectious immune dysregulation may result in the Multisystem Inflammatory Syndrome in Children (MIS-C). The most common presentations of MIS are fever, gastrointestinal (diarrhea, vomiting, abdominal pain), cardiovascular, mucocutaneous (rash, mucus membrane changes, conjunctival injection), respiratory (including sore throat), headache, limb and periorbital edema, and elevated inflammation markers. Some clinical and laboratory features of MIS-C are similar to other systemic diseases of childhood as Kawasaki disease and Toxic Shock Syndrome. Here are reported three cases in children with MIS-C, Kawasaki disease and Toxic Shock Syndrome to highlight the similarities and differences of these diseases.

Non-alcoholic fatty liver disease and metabolic syndrome in obese children

I read with great interest the article of Fu et al who investigated whether non-alcoholic fatty liver disease(NAFLD)is an early mediator for prediction of metabolic syndrome,and whether liver B-ultrasound could be used for its diagnosis,in a study involving 861 obese children(6-16 years old).In this study,it was reported that NAFLD is not only a liver disease,but also an early mediator that reflects metabolic disorder,and that liver B-ultrasound can be a useful tool for metabolic syndrome(MS)screening.The authors reported that NAFLD and MS were present in 68.18%and 25.67%of obese children,respectively.Moreover,they observed that the prevalence of MS in NAFLD children was 37.64%,which was much higher than that in the non-NAFLD group.Criteria analogous to those of the Adult Treatment PanelⅢdefinition for MS were used for children in this study.The reported prevalence data on MS in the young has varied markedly,in large part because of disagreement among the variously proposed definitions of MS.Therefore,in my opinion,a study aiming to assess the association between MS components and NAFLD in obese children has to take into account a simple,easy-to-apply clinical definition proposed by the international diabetes federation for MS.Interpretation of the results of the Fu et al study are limited byanother major caveat:that the diagnosis or exclusion of NAFLD was based on liver enzymes and ultrasound imaging,but was not confirmed by liver biopsy.Indeed,it is known that liver enzymes may be within the reference interval in up to 70%of patients with diagnosed NAFLD and that the full histopathological spectrum of NAFLD may be present in patients with normal liver enzymes,which therefore cannot be reliably used to exclude the presence of NAFLD.

Asthma-chronic obstructive pulmonary disease overlap syndrome: A diagnostic puzzle for the clinicians

Although asthma and chronic obstructive pulmonary disease(COPD) are distinct airway diseases characterized by chronic inflammation, in some cases distinguishing between them is puzzling. For example, chronic smoking leads asthmatic inflammation to a differentiated pattern resembling the COPD inflammation, and in some cases to fixed obstruction as in COPD, and on the other hand, few COPD patients may present with airway reversibility. ACOS is the condition sharing features encountered both in asthma and COPD. Asthma-COPD overlap syndrome(ACOS) represents a diagnostic challenge in the clinical practice, since there is lack of specific indicators to distinguish it from asthma or COPD, and moreover, genetic risk factors, underlying pathology and molecular pathways, clinical characteristics, therapeutic interventions, response to treatment and prognosis are poorly described. The management of ACOS is recommended to be individualized and should target on the maximum effectiveness with the least side effects. Combination therapy with ICS/LABA or LAMA, or newly developed specific anti-eosinophil therapies and treatments specifically targeting neutrophils might be of relevance in the management of ACOS, but studies are needed in order to assess the response and prognosis. Based on the current knowledge about ACOS thus far, it would be recommended that we approached chronic obstructive airway disease rather by describing than by classifying the disease; this would allow us to have a picture that better describes the disease and to implement an individualized therapeutic approach, according to the custom phenotype. Nevertheless, more studies are needed in order to clarify several important issues with regard to ACOS, such as the genetic risk factors for developing ACOS, the links between genotype and phenotype, the molecular pathways and underlying mechanisms of ACOS, the identification of possible specific biomarkers for diagnosis and targeted treatment, the optimal therapeutic interventions, and finally, the prognosis of ACOS.

Unusual presentation of Loeys-Dietz syndrome:A case report of clinical findings and treatment challenges

BACKGROUND Loeys-Dietz syndrome(LDS)is a rare autosomal dominant syndrome characterized by heterozygous mutations causing multisystemic alterations.It was recently described in 2005,and today at least six different subtypes have been identified.Classically presenting with aortic root enlargement or aneurysms and craniofacial and skeletal abnormalities,with specific arterial tortuosity at any site.The differential diagnosis of LDS includes atypical Marfan syndrome,vascular Ehlers-Danlos syndrome,Shprintzen-Goldberg craniosynostosis,and familial aortic aneurysm and dissection syndrome.CASE SUMMARY We present a case study of a 35-year-old female who came to the emergency department due to lower gastrointestinal bleeding and severe abdominal pain.Computed tomography revealed vascular tortuosity in almost every abdominal vein.CONCLUSION This case report will help us analyze the infrequent presentation of LDS type 4 and the numerous complications that it implies,underlying the importance of publishing more cases in order to expand our knowledge and offer better treatment for these patients.Differential diagnosis,clinical presentation and treatment options for this syndrome are discussed in this article.