Genetic pathways in cerebral palsy:a review of the implications for precision diagnosis and understanding disease mechanisms

Ce rebral palsy is a diagnostic term utilized to describe a group of permanent disorders affecting movement and posture.Patients with cerebral palsy are often only capable of limited activity,resulting from non-progressive disturbances in the fetal or neonatal brain.These disturbances severely impact the child’s daily life and impose a substantial economic burden on the family.Although cerebral palsy encompasses various brain injuries leading to similar clinical outcomes,the unde rstanding of its etiological pathways remains incomplete owing to its complexity and heterogeneity.This review aims to summarize the current knowledge on the genetic factors influencing cerebral palsy development.It is now widely acknowledged that genetic mutations and alterations play a pivotal role in cerebral palsy development,which can be further influenced by environmental fa ctors.Des pite continuous research endeavors,the underlying fa ctors contributing to cerebral palsy remain are still elusive.However,significant progress has been made in genetic research that has markedly enhanced our comprehension of the genetic factors underlying cerebral palsy development.Moreove r,these genetic factors have been categorized based on the identified gene mutations in patients through clinical genotyping,including thrombosis,angiogenesis,mitochondrial and oxidative phosphorylation function,neuronal migration,and cellular autophagy.Furthermore,exploring targeted genotypes holds potential for precision treatment.In conclusion,advancements in genetic research have substantially improved our understanding of the genetic causes underlying cerebral palsy.These breakthroughs have the potential to pave the way for new treatments and therapies,consequently shaping the future of cerebral palsy research and its clinical management.The investigation of cerebral palsy genetics holds the potential to significantly advance treatments and management strategies.By elucidating the underlying cellular mechanisms,we can develop to rgeted interventions to optimize outcomes.A continued collaboration between researchers and clinicians is imperative to comprehensively unravel the intricate genetic etiology of cerebral palsy.

Panhypopituitarism caused by a suprasellar germinoma: A case report

BACKGROUND Suprasellar germinomas are rare intracranial tumors frequently associated with permanent endocrine disorders.We present the clinical picture,treatment,and complications of suprasellar germinoma at pediatric age which,besides being lifethreatening,has lifelong endocrinological consequences.CASE SUMMARY A 12-year-old female patient was presented having had intensive headaches for three weeks and visual disturbances for six months.An ophthalmological examination revealed bilateral papilledema and a marked loss of vision.Emergency brain magnetic resonance imaging(MRI)showed a suprasellar tumor,involving the infundibulum and the optic chiasm,extending to the third ventricle.Laboratory tests confirmed decreased levels of thyroxine,cortisol,gonadotropins,and insulin-like growth factor 1.Maximal tumor reduction was performed,and immunohistopathology established the diagnosis of suprasellar germinoma.MRI of the spine and cerebrospinal fluid cytology confirmed the localized disease.Adjuvant chemotherapy and radiotherapy were performed according to the SIOP CNS GCT II protocol.A post-treatment MRI showed no residual tumor,but pituitary function had not recovered.Three and a half years after the end of the treatment,the patient is in a complete remission,requiring hormonal replacement therapy,continuous education,and psychological support.CONCLUSION This complex case highlights the importance of timely diagnosis,a multidisciplinary approach,and close follow-up in children with suprasellar germinomas.

Childhood asthma biomarkers including zinc: An exploratory crosssectional study

BACKGROUND Childhood bronchial asthma(BA)is a chronic inflammatory respiratory disease.Nutritional conditions,including zinc deficiency,can affect such allergic disorders.AIM To outline the difference in serum zinc levels between asthmatic children and healthy controls.METHODS A cross-sectional study was carried out at Children’s Hospital,Cairo University,investigating serum zinc levels in children with BA(n=40)and healthy children(n=21).Other markers included serum ferritin,iron,hemoglobin(Hb),and immunoglobulin E(IgE)levels.Independent t-tests and Mann-Whinny tests were used for comparisons.The Kruskal-Wallis test was applied to compare serum ferritin and IgE levels with regard to asthma severity.Spearman's rank correlation was performed to explore the relationship between serum ferritin levels and both iron and Hb levels in asthmatic children.RESULTS Children with BA had higher levels of zinc,yet the difference was not significant(P=0.115).Serum ferritin and IgE levels were significantly higher in asthmatic children(P=0.006 and 0.001,respectively),yet their levels did not differ significantly by severity(P=0.623 and 0.126,respectively).There was a nonsignificant weak correlation between serum ferritin levels and both serum iron and Hb levels.CONCLUSION Serum zinc levels do not seem to differ between asthmatic children and healthy children.Serum ferritin levels may be a marker of asthma control.Serum IgE levels are not markers of asthma severity.

Outcomes of long-acting injectable antipsychotics use in pregnancy:A literature review

BACKGROUND Women with a history of serious psychotic disorders are at increased risk of disease relapse during pregnancy.Long-acting injectable(LAI)antipsychotics have been widely used to improve adherence and prevent relapse in patients with various severe psychotic disorders,but there is a lack of high-quality data from previous research on the safety of LAI antipsychotics during pregnancy.AIM To summarize relevant data on maternal,pregnancy,neonatal,and developmental outcomes from published cases of LAI antipsychotic use in pregnancy.METHODS A literature search was performed through November 11,2023,using three online databases:PubMed/MEDLINE,Scopus,and Web of Science.Case reports or case series that reported information about the outcomes of pregnancy in women who used LAI antipsychotics at any point in pregnancy,with available full texts,were included.Descriptive statistics,narrative summation,and tabulation of the extracted data were performed.RESULTS A total of 19 publications satisfied the inclusion criteria:3 case series,15 case reports,and 1 conference abstract.They reported the outcomes of LAI antipsychotic use in 74 women and 77 pregnancies.The use of secondgeneration LAI antipsychotics was reported in the majority(n=47;61.0%)of pregnancies.First-generation LAI antipsychotics were administered during 30 pregnancies(39.0%).Most of the women(approximately 64%)had either satisfactory control of symptoms or no information about relapse,while approximately 12%of them had developed gestational diabetes mellitus.A minority of cases reported adverse outcomes such as stillbirth,spontaneous abortion,preterm birth,low birth weight,congenital anomalies,and neurological manifestations in newborns.However,there were no reports of negative long-term developmental outcomes.CONCLUSION Currently available data seem reassuring,but further well-designed studies are required to properly evaluate the risks and benefits of LAI antipsychotic use during pregnancy.

Muscle strength deficits are associated with low bone mineral density in young pediatric cancer survivors:The iBoneFIT project

Background Pediatric cancer survivors are at increased risk of muscle weakness and low areal bone mineral density(aBMD).However,the prevalence of muscle strength deficits is not well documented,and the associations of muscle strength with aBMD are unknown in this population.Therefore,this study aimed to investigate the prevalence of upper-and lower-body muscle strength deficits and to examine the associations of upper-and lower-body muscle strength with age-,sex,and race-specific aBMD Z-scores at the total body,total hip,femoral neck,and lumbar spine.Methods This cross-sectional study included 116 pediatric cancer survivors(12.1±3.3 years old,mean±SD;42.2%female).Upper-and lower-body muscle strength were assessed by handgrip and standing long jump test,respectively.Dual‑energy X‑ray absorptiometry was used to measure aBMD(g/cm2).Associations between muscle strength and aBMD were evaluated in multivariable linear regression models.Logistic regression was used to evaluate the contribution of muscle strength(1-decile lower)to the odds of having low aBMD(Z-score≤1.0).All analyses were adjusted for time from treatment completion,radiotherapy exposure,and body mass index.Results More than one-half of survivors were within the 2 lowest deciles for upper-(56.9%)and lower-body muscle strength(60.0%)in comparison to age-and sex-specific reference values.Muscle strength deficits were associated with lower aBMD Z-scores at all sites(B=0.133–0.258,p=0.001–0.032).Each 1-decile lower in upper-body muscle strength was associated with 30%–95%higher odds of having low aBMD Z-scores at all sites.Each 1-decile lower in lower-body muscle strength was associated with 35%–70%higher odds of having low aBMD Z-scores at total body,total hip,and femoral neck.Conclusion Muscle strength deficits are prevalent in young pediatric cancer survivors,and such deficits are associated with lower aBMD Z-scores at all sites.These results suggest that interventions designed to improve muscle strength in this vulnerable population may have the added benefit of improving aBMD.

Impact of Rotavirus Vaccination in Severe Rotavirus Gastroenteritis Outpatient Visits at Three Pediatric Primary Care Clinics in Shibata City, Niigata Prefecture, Japan

The impact of rotavirus (RV) vaccination in reducing severe rotavirus gastroenteritis (RVGE) in outpatient settings was prospectively surveyed in three pediatric clinics in Shibata City. In children younger than 3 years of age, the occurrence of severe RVGE among all acute gastroenteritis (AGE) was found to be significantly lower in three seasons after introduction of RV vaccines, compared to that in 2011, before introduction of RV vaccines. The incidence rates of severe RVGE among children younger than 3 years of age were found to be reduced by 71.2%, 47.7%, and 81.1% for 2012, 2013, and 2014, respectively, compared to that in 2011. These results suggest that the RV vaccination is effective for the prevention of severe RVGE in Japanese voluntary RV vaccination settings with estimated coverage rates of 32.5%, 40.5% and 47.1% for 2012, 2013 and 2014, respectively. It is expected that the reducing effect on severe RVGE would be persistently established by increasing the vaccine coverage rates.

Artificial intelligence promotes shared decision-making through recommending tests to febrile pediatric outpatients

BACKGROUND:To promote the shared decision-making(SDM)between patients and doctors in pediatric outpatient departments,this study was designed to validate artificial intelligence(AI)-initiated medical tests for children with fever.METHODS:We designed an AI model,named Xiaoyi,to suggest necessary tests for a febrile child before visiting a pediatric outpatient clinic.We calculated the sensitivity,specificity,and F1 score to evaluate the efficacy of Xiaoyi’s recommendations.The patients were divided into the rejection and acceptance groups.Then we analyzed the rejected examination items in order to obtain the corresponding reasons.RESULTS:We recruited a total of 11,867 children with fever who had used Xiaoyi in outpatient clinics.The recommended examinations given by Xiaoyi for 10,636(89.6%)patients were qualified.The average F1 score reached 0.94.A total of 58.4%of the patients accepted Xiaoyi’s suggestions(acceptance group),and 41.6%refused(rejection group).Imaging examinations were rejected by most patients(46.7%).The tests being time-consuming were rejected by 2,133 patients(43.2%),including rejecting pathogen studies in 1,347 patients(68.5%)and image studies in 732 patients(31.8%).The difficulty of sampling was the main reason for rejecting routine tests(41.9%).CONCLUSION:Our model has high accuracy and acceptability in recommending medical tests to febrile pediatric patients,and is worth promoting in facilitating SDM.

Efficacy of incremental loads of cow's milk as a treatment for lactose malabsorption in Japan

BACKGROUND Lactose intolerance(LI)is commonly seen in East Asian countries.Several studies showed that lactose or milk loading has been used as a treatment for lactose malabsorption(LM)in Western countries,but there have been no reports regarding this type of treatment in Japan.As lactose or milk loading requires ingestion of large amounts of lactose within a short period,this is considered to be too harsh for Japanese people because of their less habitual milk consumption(175 mL per day in average)than Western people.In this study,we demonstrated lactose tolerance acquisition in a suitable way for Japanese.AIM To examine the efficacy of lactose(cow’s milk)loading treatment in patients with LM.METHODS Individuals with abdominal symptoms induced by milk or dairy products(LI symptoms)were identified with a questionnaire.A 20 g lactose hydrogen breath test(LHBT)was carried out to confirm LM diagnosis and to evaluate co-existence of small intestinal bacterial overgrowth(SIBO).Respondents diagnosed with LM were selected as study subjects and were treated with incremental loads of cow’s milk,starting from 30 mL and increasing up to 200 mL at 4-7 d intervals.After the treatment,changes in symptoms and LM diagnostic value of 20 g LHBT were investigated.Stool samples pre-and post-treatment were examined for changes in intestinal microbiota using 16S rRNA sequencing.Informed consent was obtained prior to each stage of the study.RESULTS In 46 subjects with LI symptoms(10-68 years old,mean age 34 years old)identified with the questionnaire,35(76.1%)were diagnosed with LM by 20 g LHBT,and 6 had co-existing SIBO.The treatment with incremental cow’s milk was carried out in 32 subjects diagnosed with LM(14-68 years old,median age 38.5 years old).The mean period of the treatment was 41±8.6 d.Improvement of symptoms was observed in 29(90.6%;95%confidence interval:75.0%-98.0%)subjects.Although 20 g LHBT indicated that 10(34.5%)subjects had improved diagnostic value of LM,no change was observed in 16(55.2%)subjects.Analysis of the fecal intestinal microbiota showed a significant increase in Blautia in 7 subjects who became symptom-free after the treatment(P=0.0313).CONCLUSION LM was diagnosed in approximately 75%of the subjects who had LI.Incremental loads of cow’s milk is regarded as a useful treatment for LM without affecting everyday life.

Potential role of PANoptosis in neuronal cell death:commentary on"PANoptosis-like cell death in ischemia/reperfusion injury of retinal neurons"

See related article,pp 357-363Extensive neuronal cell death occurs during nervous system development to remove surplus,unwanted,and damaged cells.This is a highly regulated physiological process that plays a pivotal role in nervous system homeostasis and normal development.In some brain regions,more than half of the neurons are removed during normal development without interfering with the remaining cells.This gene-regulated neuronal cell deletion process is called programmed cell death(Fricker et al.,2018).

Intestinal obstruction due to giant liver cyst:A case report

BACKGROUND Congenital hepatic cysts are relatively rare but are now diagnosed earlier and more frequently with a routine prenatal ultrasound.Solitary liver cysts are divided into simple and solitary intrahepatic biliary cysts,depending on the biliary connection.While some solitary liver cysts are symptomatic in childhood,even in newborns,they are often found incidentally in adults.CASE SUMMARY A 3-mo-old female infant was admitted to Mogadishu Somali Training and Research Hospital with recurrent vomiting,respiratory problems,and abdominal bloating complaints.On examination,the abdomen was greatly distended and extremely tight.She had repeated vomiting for 3 d,no stool output,and decreased urine.The abdominal ultrasonography detected a solitary cystic lesion measuring 10 cm×10 cm×14 cm,extending from the liver or right kidney to the pelvis.In the magnetic resonance imaging examination of the patient,a solitary cystic structure of 10 cm×10 cm×14 cm in the right abdomen was observed,extending to the pelvis and possibly originating from the liver.The patient was operated via fenestration after her fluid and electrolytes improved.Oral nutrition was initiated on the 2nd postoperative day,and the drain was removed on the 5th postoperative day.The patient visited the outpatient clinic control 1 mo later with no clinical complaints.CONCLUSION Congenital liver cysts are usually followed without complications.They rarely reach gigantic dimensions and may cause respiratory distress,intestinal obstruction and recurrent vomiting.Surgery can provide quite successful outcomes in the treatment of giant sized simple liver cysts.

Evaluation of Perinatal and Developmental Outcomes in Neonates with Abstinence Syndrome Admitted to NICU

Drug abuse by pregnant women is one of the significant problems for mothers and their neonates.This study aimed to investigate the effects of maternal substance use disorder during pregnancy on neonatal developmental criteria.In a case-control study,clinical records of 90 neonates diagnosed with neonatal abstinence syndrome who were admitted to NICU in one of four hospitals affiliated with Shahid-Beheshti University of Medical Sciences in Tehran,Iran between 2017 and 2020 were compared to 90 neonates without neonatal abstinence syndrome(control group).Demographic information and data for neonatal developmental characteristics and complications were extracted from the clinical records of this convenience sample.Data for the type and method of maternal substance use during pregnancy were collected through a telephone call with mothers.Our data showed that the prevalence of drug addiction was 1.8%among pregnant women,and the most common drugs used by mothers were opium(n=45%,50%),amphetamine(n=30%,33%),and methadone(n=14%,16%).Neonates with abstinence syndrome had a higher prevalence of transient tachypnea of the newborn(TTN)(P=0.004),and a prevalence of being admitted to NICU(P=0.05)and for a longer duration(P<0.001).Their mothers had a higher prevalence of having pre-eclampsia(P=0.010).Using morphine vs.amphetamine showed no difference based on their effects on mothers and neonates.Substance use during pregnancy increased the prevalence of pregnancy complications(pre-eclampsia)and neonatal complications(TTN and prevalence and duration of hospitalization).Therefore,planning for the development of health policies to raise awareness among women and more broadly,all members of the community,is important to prevent the tendency to engage in this potentially high-risk behavior.

Pediatric non-alcoholic fatty liver disease: Recent solutions, unresolved issues, and future research directions

Non-alcoholic fatty liver disease(NAFLD) in children is becoming a major health concern. A "multiple-hit" pathogenetic model has been suggested to explain the progressive liver damage that occurs among children with NAFLD. In addition to the accumulation of fat in the liver, insulin resistance(IR) and oxidative stress due to genetic/epigenetic background, unfavorable lifestyles, gut microbiota and gut-liver axis dysfunction, and perturbations of trace element homeostasis have been shown to be critical for disease progression and the development of more severe inflammatory and fibrotic stages [non-alcoholic steatohepatitis(NASH)]. Simple clinical and laboratory parameters, such as age, history, anthropometrical data(BMI and waist circumference percentiles), blood pressure, surrogate clinical markers of IR(acanthosis nigricans), abdominal ultrasounds, and serum transaminases, lipids and glucose/insulin profiles, allow a clinician to identify children with obesity and obesity-related conditions, including NAFLD and cardiovascular and metabolic risks. A liver biopsy(the "imperfect" gold standard) is required for a definitive NAFLD/NASH diagnosis, particularly to exclude other treatable conditions or when advanced liver disease is expected on clinical and laboratory grounds and preferably prior to any controlled trial of pharmacological/surgical treatments. However, a biopsy clearly cannot represent a screening procedure. Advancements in diagnostic serum and imaging tools, especially for the non-invasive differentiation between NAFLD and NASH, have shown promising results, e.g., magnetic resonance elastography. Weight loss and physical activity should be the first option of intervention.Effective pharmacological treatments are still under development; however, drugs targeting IR, oxidative stress, proinflammatory pathways, dyslipidemia, gut microbiota and gut liver axis dysfunction are an option for patients who are unable to comply with the recommended lifestyle changes. When morbid obesity prevails, bariatric surgery should be considered.

Hepatitis B virus X protein up-regulates tumor necrosis factor-α expression in cultured mesangial cells via ERKs and NF-κB pathways

Objective:To investigate the effects of hepatitis B virus(HBV)X protein(HBx)on the expression of tumor necrosis factor-α(TNF-α)in glomerular mesangial cells(GMCs)and the underlying intracellular signal pathways.Methods:The plasmid pCI-neo-X that carries the X gene of hepatitis B virus was transfected into cultured GMCs.HBx expression in the transfected GMCs was assessed by Western-blot.TNF-αprotein and mRNA were assessed by ELISA and semi-quantitative RT-PCR,respectively.Three kinase inhibitors-U0126,an inhibitor of extracellular signal-regulated kinases(ERKs);lactacvstin,an inhibitor of nuclear factor-κB(NF-κB);and SB203580,a selective inhibitor of p38 MAP kinase(p38 MAPK)were used to determine which intracellular signal pathways may underlie the action of HBx on TNF-αexpression in transfected GMCs.Results:A significant increase in HBx expression in pCI-neo-X transfected GMCs was detected at 36 h and 48 h,which was not affected by any of those kinase inhibitors mentioned above.A similar increase in the expression of both TNF-αprotein and mRNA was also observed at 36 h and 48 h,which was significantly decreased in the presence of U0126 or lactacytin,but not SB203580.Conclusions:HBx upregulates TNF-αexpression in cultured GMCs,possibly through ERKs and NF-κB pathway,but not p38 MAPK pathway.

Y microdeletions in the Istria county,Croatia

按照演化经济学的观点，从经济学的角度可以找到企业核心竞争力的真正内涵。首先对企业的核心竞争力理论分别从经济学与管理学方面做简要的阐述，然后利用演化经济学的理论，对企业的核心竞争力——“惯例”作了分析、归纳，并给出了企业惯例的假设与特征。

Occult hepatitis B virus infection and cryptogenic chronic hepatitis in an area with intermediate prevalence of HBV infection

瞄准：在伊朗的病人在长期的肝炎的致病估计秘密 HBV 感染的可能的角色。方法：在自体免疫、新陈代谢、病毒的病原学的排除以后，有 histologic 和长期的肝炎和否定 HBsAg 的生物化学的特征的 104 个连续成年病人在学习被注册。有 150 x 10 的敏感(3 ) 的质的 PCR copies/L，用二，为 Pre-S 和核心区域的教材被使用在病人的浆液测量 HBV DNA 的存在。结果：所有 104 个病人完成了学习。质的 HBV DNA 在二个病人(1.9%) 是积极的。结论：秘密 HBV 感染在伊朗的病人在起因不明的长期的肝炎的致病有可以忽略的角色。

Cardiometabolic health among gastric bypass surgery patients with polycystic ovarian syndrome

AIM:To examine the effect of gastric bypass surgery on cardiometabolic health among women with polycystic ovarian syndrome(PCOS).METHODS:Retrospective medical chart review identified women(n = 389) with PCOS who underwent Roux-en-Y gastric bypass surgery from 2001-2009 in one surgical practice.Separate repeated measures linear mixed models were fit using the MIXED procedureto assess mean change in cardiometabolic disease risk factors from before to 1-year after surgery and were evaluated by ethnicity [Hispanic,non-Hispanic black(NHB) and white(NHW)].RESULTS:The majority of the sample was Hispanic(66%,25% NHB,9% NHW).Mean body mass index significantly improved 1 year post-surgery for all ethnic groups(45.5 to 35.5 kg/m2 for Hispanics,46.8 to 37.7 kg/m2 for NHB and 45.7 to 36.7 kg/m2 for NHW,P < 0.001).Among Hispanic women mean total cholesterol(198.1 to 160.2 mg/dL),low-density lipoproteins(LDL) cholesterol(120.9 to 91.0 mg/dL),triglycerides(148.6 to 104.8 mg/dL),hemoglobin A1c(6.2% to 5.6%),alanine aminotransferase(28.1 to 23.0 U/L) and aspartate aminotransferase(23.5 to 21.6 U/L) decreased significantly(P < 0.001).Among NHB,mean total cholesterol(184.5 to 154.7 mg/dL),LDL cholesterol(111.7 to 88.9 mg/dL) and triglycerides(99.7 to 70.0 mg/dL) decreased significantly(P < 0.05).Among NHW,mean total cholesterol(200.9 to 172.8 mg/dL) and LDL cholesterol(124.2 to 96.6 mg/dL),decreased significantly(P < 0.05).Pairwise ethnic group comparisons of all cardiometabolic outcomes adjusted for age and type of surgery before and 1 year after surgery showed no statistical difference between the three groups for any outcome.CONCLUSION:Cardiometabolic disease risk improvements vary by ethnicity and obesity may impact glucose tolerance and liver function changes more in Hispanic women with PCOS vs non-Hispanic women.

Erythrocytic transglutaminase inhibition hemolysis at presentation of celiac disease

Celiac disease (CD) is a common autoimmune condition.Previously it was considered to be a rare childhood disorder,but is actually considered a relatively common condition,present at any age,which may have multiple complications and manifestations.Hematological disorders of the disease are not uncommon.Among these disorders,the most frequently reported are anemias as a result of iron deficiency,often associated with folate and/or B12 deficiency.Anemias caused by hemolysis are very rarely reported in celiac patients.An 11-year-old girl with a previous uneventful medical history presented with severe hemolytic anemia.Hemolysis was Coombs negative,accompanied by inappropriate low reticulocyte count,despite exaggerated bone marrow hyperplasia of the erythroid precursors which showed normal maturation.Serology for recent infections,including EpsteinBarr virus,parvovirus B19,cytomegalovirus and mycoplasma,were all negative.Levels of serum IgA,IgG and IgM,were all within normal ranges for age.Screeningfor anti-DNA,antinuclear,antineutrophil cytoplasmic,antimicrosomal,antithyroglobulin,and antimitochondrial antibodies and lupus anticoagulants,was negative.She was also negative for human immunodeficiency virus.Conventional therapy with corticosteroids and intravenous immunoglobulin failed.CD was serendipitously discovered upon screening for anti-tissue transglutaminase autoantibodies.The disease was confirmed by biopsy of the small intestine mucosa.The patient recovered with gluten-free diet.A unique case of CD is presented.CD should be serologically screened in each patient with Coombs negative "immune"hemolytic anemia,particularly if accompanied by "reticulocytopenia".A new hemolytic mechanism and very speculative explanation for "reticulocytopenia"are discussed.

Obesity and cardiometabolic disease risk factors among US adolescents with disabilities

AIM: To generate prevalence estimates of weight status and cardiometabolic disease risk factors among adolescents with and without disabilities.METHODS: Analysis of the 1999-2010 National Health and Nutrition Examination Survey data was conducted among 12-18 years old with(n = 256) and without disabilities(n = 5020). Mean values of waist circumference, fasting glucose, high-density-lipoprotein cholesterol, triglycerides, systolic and diastolic blood pressure and metabolic syndrome(Met S, ≥ 3 risk factors present) were examined by the following standardized body mass index(BMI) categories for those with and without disabilities; overweight(BMI ≥ 85th- < 95 th percentile for age and sex), obesity(BMI ≥ 95 th percentile) and severe obesity(BMI ≥35 kg/m2). Linear regression models were fit with each cardiometabolic disease risk factor independently as continuous outcomes to show relationships with disability status. RESULTS: Adolescents with disabilities were significantlymore likely to be overweight(49.3%), obese(27.6%) and severely obese(12%) vs their peers without disabilities(33.1%, 17.5% and 3.6%, respectively, P ≤ 0.01 for all). A higher proportion of overweight, obese and severely obese children with disabilities had abnormal SBP, fasting lipids and glucose as well as Met S(18.9% of overweight, 32.3% of obese, 55% of severely obese) vs their peers without disabilities(9.7%, 16.8%, 36.3%, respectively). US adolescents with disabilities are over three times as likely to have Met S(OR = 3.45, 95%CI: 1.08-10.99, P = 0.03) vs their peers with no disabilities.CONCLUSION: Results show that adolescents with disabilities are disproportionately affected by obesity and poor cardiometabolic health vs their peers with no disabilities. Health care professionals should monitor the cardiometabolic health of adolescents with disabilities.

Effects of carob-bean gum thickened formulas on infants' reflux and tolerance indices

AIM: To examine the effect of carob-bean gum(CBG) thickened-formulas on reflux and tolerance indices in infants with gastro-esophageal reflux(GER). METHODS: Fifty-six eligible infants(1-6 mo old) were randomly allocated to receive for two weeks a formula with either 0.33 g/100 m L(Formula A) or 0.45 g/100 m L(Formula B) of cold soluble CBG galactomannans respectively, or a formula with 0.45 g/100 m L of hot soluble CBG galactomannans(Formula C). No control group receiving standard formula was included in the study. Data on the following indices were obtained both at baseline and follow-up from all study participants: 24 h esophageal p H monitoring indices, anthropometrical indices(i.e., body weight and length) and tolerance indices(i.e., frequency of colics; type and frequency ofdefecations). From the eligible infants, forty seven were included in an intention-to-treat analysis to examine the effects of the two-week trial on esophageal 24 h p H monitoring, growth and tolerance indices. Repeated Measures ANOVA was used to examine the research hypothesis.RESULTS: Regarding changes in 24 h p H monitoring indices, significant decreases from baseline to followup were observed in the "Boix Ochoa Score"(i.e., an index of esophageal acid exposure), in the total number of visible refluxes and in all symptoms related indices due to acid reflux only for infants provided with Formula A, while no significant changes were observed for infants provided with Formulas B and C. In addition, the significant decreases observed in two symptoms related p H monitoring indices(i.e., "Symptom index for reflux" and "Percentage of all reflux") for infants provided with Formula A were also found to differentiate significantly compared to the changes observed in the other two groups(P = 0.048 and P = 0.014 respectively). Concerning changes in anthropometric indices, body weight significantly increased among infants provided with Formulas A and C, but not for infants provided with Formula B. As far as tolerance indices were concerned, the numbers of total and diarrheic defecations increased significantly only in infants provided with Formula B and these changes were significantly higher compared to the decreases observed in infants fed with Formulas A and C(P = 0.003 and P = 0.015 respectively. Lastly the number of colics significantly decreased in all infants, irrespective of the tested formula. CONCLUSION: Formula A(i.e., 0.33 g/100 m L of cold galactomannans) was effective in reducing certain p Hmonitoring indices of uncomplicated GER, increased body weight and was well-tolerated by infants.

E-Health and Telemedicine: Current State and Future Steps

The article reviews the questions related to building the e-health systems. The key element of the system is electronic healthcare record to be formed according to the modular approach in the form of primary and satellite electronic medical records. Person-centred healthcare is proposed as a foundation for e-health. Such an approach provides a potential opportunity for all the medical doctors to obtain necessary information about their patients at any time via the teleconsultations in particular. Transition to e-health is associated with the creation of new opportunities for making diagnostic and therapeutic decisions based on the use of build-in decision support modules. The computer-assisted software design or hybrid systems are considered as the fourth generation medical information systems. It is reasonable to implement the entire information space of e-health, including the information systems of medical institutions and regional data repositories, based on cloud-optimized storage and computing solutions. This approach is expected to be implemented in Russia as a part of the unified state health information system. The authorized access to integrated databases for medical doctors of various specialties is required. In the framework of e-health, telemedicine is considered as an important component. Main elements comprise the real-time access of medical consultants to personified medical databases and remote follow-up of patients by the means of personal or home-based telemedicine. The use of personal portable devices for the control of vital signs of the organism is especially promising. Electronic stethoscopes and specialized video cameras for acquiring objective information should be increasingly used by remote consultants. Unfortunately, this trend is still underdeveloped in Russia. In perspective, e-health as unified medical space will provide a transition to the integrated analysis of population health by medical doctors of various specialties from different countries and will open new prospects for studying health based on the intelligent analysis of integrated data of patients.