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PubMed2000

Mucosal and systemic immune responses to chimeric fimbriae expressed by Salmonella enterica serovar typhimurium vaccine strains.

Recombinant live oral vaccines expressing pathogen-derived antigens offer a unique set of attractive properties. Among these are the simplicity of administration, the capacity to induce mucosal and systemic immunity, and the advantage of permitting genetic manipulation for optimal antigen presentation. In this study, the benefit of having a heterologous antigen expressed on the surface of a live vector rather than intracellularly was evaluated. Accordingly, the immune response of mice immunized with a Salmonella enterica serovar Typhimurium vaccine strain expressing the Escherichia coli 987P fimbrial antigen on its surface (Fas(+)) was compared with the expression in the periplasmic compartment (Fas(-)). Orally immunized BALB/c mice showed that 987P fimbriated Salmonella serovar Typhimurium CS3263 (aroA asd) with pCS151 (fas(+) asd(+)) elicited a significantly higher level of 987P-specific systemic immunoglobulin G (IgG) and mucosal IgA than serovar Typhimurium CS3263 with pCS152 (fasD mutant, asd(+)) expressing 987P periplasmic antigen. Further studies were aimed at determining whether the 987P fimbriae expressed by serovar Typhimurium chi4550 (cya crp asd) could be used as carriers of foreign epitopes. For this, the vaccine strain was genetically engineered to express chimeric fimbriae carrying the transmissible gastroenteritis virus (TGEV) C (379-388) and A (521-531) epitopes of the spike protein inserted into the 987P major fimbrial subunit FasA. BALB/c mice administered orally serovar Typhimurium chi4550 expressing the chimeric fimbriae from the tet promoter in pCS154 (fas(+) asd(+)) produced systemic antibodies against both fimbria and the TGEV C epitope but not against the TGEV A epitope. To improve the immunogenicity of the chimeric fimbriae, the in vivo inducible nirB promoter was inserted into pCS154, upstream of the fas genes, to create pCS155. In comparison with the previously used vaccine, BALB/c mice immunized orally with serovar Typhimurium chi4550/pCS155 demonstrated significantly higher levels of serum IgG and mucosal IgA against 987P fimbria. Moreover, mucosal IgA against the TGEV C epitope was only detected with serovar Typhimurium chi4550/pCS155. The induced antibodies also recognized the epitopes in the context of the full-length TGEV spike protein. Hence, immune responses to heterologous chimeric fimbriae on Salmonella vaccine vectors can be optimized by using promoters known to be activated in vivo.

Adhesins, Escherichia coli↗
PubMed2004

Possible role of leptin in hypoandrogenicity in patients with systemic lupus erythematosus and rheumatoid arthritis.

BACKGROUND: Hypoandrogenicity is common in obesity and in chronic inflammatory diseases such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Adrenal androgens such as androstenedione (ASD) and dehydroepiandrosterone (DHEA) sulphate are low, which partly depends on the influence of TNF in chronic inflammatory diseases. Leptin is stimulated by TNF and is associated with hypoandrogenicity in non-inflammatory conditions. OBJECTIVE: To study the interrelation between serum levels of leptin and adrenal steroids in SLE and RA. METHODS: In a retrospective study, serum levels of leptin, ASD, DHEA, and 17-hydroxyprogesterone (17OHP) were measured by ELISA, and serum levels of cortisol by radioimmunoassay in 30 patients with RA, 32 with SLE, and 54 healthy control subjects (HS). RESULTS: In SLE and RA but not HS, serum levels of ASD correlated negatively with serum levels of leptin (p<0.01) independently of prior prednisolone treatment in patients with SLE (p = 0.013) and tended to be independent of prednisolone in patients with RA (p = 0.067). In a partial correlation analysis, this interrelation remained significant after controlling for daily prednisolone dose in both patient groups. In both patient groups, serum leptin levels correlated negatively with the molar ratio of serum ASD/serum cortisol and serum ASD/serum 17OHP, and positively with the molar ratio of serum DHEA/serum ASD. CONCLUSIONS: The negative correlation of serum leptin and ASD or, particularly, ASD/17OHP, together with its known anti-androgenic effects indicate that leptin is also involved in hypoandrogenicity in patients with SLE and RA. Leptin may be an important link between chronic inflammation and the hypoandrogenic state.

17-alpha-Hydroxyprogesterone↗
PubMed2004

Tumour necrosis factor alpha blocking agents in refractory adult Still's disease: an observational study of 20 cases.

BACKGROUND: Consensus is lacking on treatment for corticosteroid resistant adult onset Still's disease (ASD). OBJECTIVE: To assess anti-TNFalpha efficacy and tolerance in refractory ASD. METHODS: All departments of rheumatology and internal medicine in France were contacted by mail to identify cases of refractory ASD for which anti-TNFalpha had been used. Medical information was collected using a standardised questionnaire. RESULTS: Of 20 patients with mean age 40.7 years (range 18-74) at treatment start and mean disease duration 8.5 years (range 2-21), the clinical expression of ASD was predominantly systemic in five patients and polyarticular in 15. Response to corticosteroids and methotrexate had been considered inadequate in all patients. Infliximab was used to treat 15 patients, and etanercept used for 10; five had received both drugs consecutively. Steroids were concurrently used in 18 patients and an immunosuppressant in 17. At a mean (SD) follow up of 13 (14) months, complete remission had occurred in five cases (of 25 treatment sequences): one receiving etanercept and four infliximab. Partial response was observed in 16 cases (seven etanercept and nine infliximab). Treatment failed in four cases (two with each anti-TNFalpha). At the last visit, anti-TNFalpha therapy was discontinued in 17 cases, 11 times because of lack (or loss) of efficacy, four times because of a side effect, and twice for other reasons. CONCLUSION: Anti-TNFalpha therapy may be helpful for some patients with refractory ASD. However, most patients achieve only partial remission. Additional information is thus needed to evaluate more precisely the risk-benefit ratio of this treatment.

Adolescent↗
PubMed2005

Left ventricular adaptation after atrial septal defect closure assessed by increased concentrations of N-terminal pro-brain natriuretic peptide and cardiac magnetic resonance imaging in adult patients.

OBJECTIVE: To determine in an observational study whether N-terminal pro-brain natriuretic peptide (NT-proBNP) is raised in patients with an atrial septal defect (ASD) and whether concentrations change after interventional closure. METHODS: 12 patients (6 men, mean (SD) age 44.4 (18.6) years) with a moderate sized ASD type II (23.3 (4.5) mm, pulmonary to systemic flow ratio 2.1 (0.68)) were investigated. In all patients a magnetic resonance imaging (MRI) study was performed and NT-proBNP was assessed at baseline and early (9 (13) days) and late (138 (64) days) after intervention. RESULTS: Concentrations of NT-proBNP were found to be within the normal range at baseline (median 87 pg/ml, interquartile range 65-181 pg/ml) but increased early after the interventional closure (315 pg/ml, 133-384 pg/ml, p = 0.005 versus baseline). The increase of NT-proBNP was associated with an increase in left ventricular dimensions as assessed by MRI (left ventricular end diastolic volume 104 (27) ml to 118 (27) ml, p = 0.003). Late after ASD closure NT-proBNP returned to baseline concentrations (102 pg/ml, 82-188 pg/ml, p = 0.004 versus early follow up). CONCLUSION: These findings suggest the presence of transitory haemodynamic stress during adaptation of the left ventricle after ASD closure, which may contribute to the understanding of the pathological mechanism of acute heart failure and delayed improvement of exercise capacity after ASD closure.

Adult↗
PubMed2005

Transcatheter closure of atrial septal defects improves right ventricular volume, mass, function, pulmonary pressure, and functional class: a magnetic resonance imaging study.

OBJECTIVE: To characterise prospectively by magnetic resonance imaging (MRI) changes in right ventricular (RV) volume, function, and mass after transcatheter closure of atrial septal defects (ASDs) and to evaluate the course of pulmonary pressure and functional class criteria. METHODS: In 20 patients with secundum-type ASD and dilated RV diameter, MRI was performed to quantify RV end diastolic (RVEDV) and end systolic volumes (RVESV), RV mass, tricuspid annular diameter, and RV ejection fraction before and 6 and 12 months after transcatheter closure of the ASD. RV systolic pressure was measured during follow up by transthoracic echocardiography. RESULTS: Functional class improved in the majority of patients after ASD closure. RVESV (from 81 (18) ml/m2 to 53 (15) ml/m2, p < 0.001), RVEDV (from 127 (17) ml/m2 to 99 (18) ml/m2, p < 0.001), and RV mass (from 79 (10) g to 63 (8) g, p < 0.01) decreased significantly during follow up, although tricuspid annular diameter did not. RV ejection fraction improved (by 9% compared with baseline, p < 0.05) and RV systolic pressure decreased significantly (from 33 (8) mm Hg to 24 (6) mm Hg, p < 0.001) after closure. CONCLUSION: MRI studies showed significant improvement of RV volumes, mass, and function after transcatheter closure of ASDs. Restoration of the RV leads to decreased pulmonary pressure resulting in a better functional class in the majority of patients.

Adult↗
PubMed2005

Similar cardiac remodelling after transcatheter atrial septal defect closure in children and young adults.

OBJECTIVE: To study the cardiac geometric changes after transcatheter closure of large atrial septal defects (ASDs) according to patient age at the time of the procedure. DESIGN: Prospective echocardiographic follow-up study. SETTING: Tertiary referral centre. PATIENTS AND INTERVENTION: 25 asymptomatic patients younger than 16 years (median 8 years; group 1) and 21 asymptomatic adults (median 38 years; group 2) underwent percutaneous closure of large ASD with the Amplatzer septal occluder device (mean 25 (SD 7) mm). MAIN OUTCOME MEASURES: Cardiac remodelling was assessed by M mode and two dimensional echocardiography one and six months after ASD closure. RESULTS: By six months, right atrial volume decreased from 31 (15) to 19 (5) ml/m(2) (p < 0.001) and right ventricular (RV) transverse diameter decreased from 29.8 (8.6) to 23.2 (5.6) mm/m(2) (p < 0.001). Conversely, left atrial volume did not change significantly (from 18 (6) to 20 (6) ml/m(2), NS) and left ventricular (LV) transverse diameter increased from 27.8 (6.4) to 31.8 (7.3) mm/m(2) (p < 0.05). Ventricular remodelling resulted in an RV:LV diameter ratio decrease from 1.1 (0.2) to 0.7 (0.1) (p < 0.001). The magnitude and time course of cardiac remodelling did not differ significantly between the age groups. Indeed, right atrial volume decreased by 33 (26)% versus 37 (23)%, RV diameter decreased by 26 (10)% versus 20 (13)%, LV diameter increased by 17 (15)% versus 15 (10)%, and RV:LV diameter ratio decreased by 36 (8)% versus 27 (15)% in groups 1 and 2, respectively. CONCLUSIONS: Cardiac remodelling after percutaneous ASD closure seems to be independent of the patient's age at the time of the procedure up to early adulthood. Thus, postponing ASD closure for a few years may be a reasonable option for potentially suitable asymptomatic children.

Adolescent↗
PubMed1999

Transcatheter closure of atrial septal defect and interatrial communications with a new self expanding nitinol double disc device (Amplatzer septal occluder): multicentre UK experience.

OBJECTIVE: To review the safety and efficacy of the Amplatzer septal occluder for transcatheter closure of interatrial communications (atrial septal defects (ASD), fenestrated Fontan (FF), patent foramen ovale (PFO)). DESIGN: Prospective study following a common protocol for patient selection and technique of deployment in all participating centres. SETTING: Multicentre study representing total United Kingdom experience. PATIENTS: First 100 consecutive patients in whom an Amplatzer septal occluder was used to close a clinically significant ASD or interatrial communication. INTERVENTIONS: All procedures performed under general anaesthesia with transoesophageal echocardiographic guidance. Interatrial communications were assessed by transoesophageal echocardiography with reference to size, position in the interatrial septum, proximity to surrounding structures, and adequacy of septal rim. Stretched diameter of the interatrial communications was determined by balloon sizing. Device selection was based on and matched to the stretched diameter of the communication. MAIN OUTCOME MEASURES: Success defined as deployment of device in a stable position to occlude the interatrial communication without inducing functional abnormality or anatomical obstruction. Occlusion status determined by transoesophageal echocardiography during procedure and by transthoracic echocardiography on follow up. Clinical status and occlusion rates assessed at 24 hours, one month, and three months. RESULTS: 101 procedures were performed in 100 patients (86 ASD, 7 FF, 7 PFO), age 1.7 to 64.3 years (mean (SD), 13.3 (13.9)), weight 9.2 to 100.0 kg (mean 32.5 (23.5)). Procedure time ranged from 30 to 180 minutes (mean 92.4 (29.0)) and fluoroscopy time from 6.0 to 49.0 minutes (mean 16.1 (8.0)). There were seven failures, all occurring in patients with ASD, and one embolisation requiring surgical removal. Immediate total occlusion rate was 20.4%, rising to 84.9% after 24 hours. Total occlusion rates at the one and three month follow up were 92.5% and 98.9%, respectively. Complications were: transient ST elevation (1), transient atrioventricular block (1), presumed deep vein thrombosis (1), presumed transient ischaemic attack (1). CONCLUSIONS: It appears feasible to close interatrial communications and atrial septal defects up to 26 mm stretched diameter safely with the Amplatzer septal occluder. Short term results confirm an early high occlusion rate with no major complications. Careful selection of cases based on the echocardiographic morphology of the ASD and accurate assessment of their stretched diameter is of utmost importance. Further experience with the larger devices and longer term results are required before a firm conclusion regarding its use can be made.

Adolescent↗
PubMed2006

A clinical and laboratory evaluation of methionine cycle-transsulfuration and androgen pathway markers in children with autistic disorders.

BACKGROUND/AIMS: The prevalence of autism spectrum disorders (ASDs) is 1 in 300 children in the US. ASDs are characterized by impairments in social relatedness and communication, repetitive behaviors, abnormal movement patterns, and sensory dysfunction. Pre-pubertal age children with ASDs were assessed for metabolites in the methionine cycle-transsulfuration and androgen pathways, and for present physical development/behaviors indicative of hyperandrogenicity. METHODS: The Institutional Review Board of the Institute for Chronic Illnesses (Office for Human Research Protections, US Department of Health and Human Services IRB number: IRB00005375) approved the present study. Sixteen consecutive pre-pubertal age children (</=11 years old; mean +/- SD: 5.9 +/- 2.1 years old) with previously diagnosed ASDs that presented to the Genetic Centers of America for outpatient care were evaluated. RESULTS: Significantly (p < 0.01) increased levels of serum/plasma dehydroepiandrosterone and serum total testosterone relative to the age- and sex-specific normal laboratory reference ranges were observed. Conversely, serum follicle-stimulating hormone levels were significantly (p < 0.01) decreased. Plasma-reduced glutathione (p < 0.01), plasma cysteine (p < 0.01), plasma methionine (p < 0.01), serum cystathionine (p < 0.05), and serum homocysteine (p < 0.01) were all significantly decreased. CONCLUSION: The results suggest a possible cyclical interaction between the methionine cycle-transsulfuration and androgen pathways in some children with ASDs.

Androgens↗
PubMed1997

Transvenous closure of secundum atrial septal defects: preliminary results with a new self-expanding nitinol prosthesis in a swine model.

BACKGROUND: Our purpose was to evaluate a new prosthesis for percutaneous closure of secundum atrial septal defects (ASDs). METHODS AND RESULTS: Percutaneous closure of surgically created fossa ovalis ASD was attempted in 15 minipigs. The mean balloon-stretched ASD diameter was 12.3+/-2.3 mm (range, 10 to 16 mm). The self-expanding prosthesis was braided from 0.005-in Nitinol wires in the shape of two flat buttons with a short connecting waist with a diameter corresponding to that of the defect to be closed. Polyester filling was added to enhance thrombogenicity. Pulmonary arteriography with levo-phase was obtained before placement; immediately after placement; and at 1-week, 1-month, and 3-month follow-ups. Four animals were killed at 1 week, 1 month, and 3 months for histopathological correlation. Three deaths resulted from ventricular fibrillation (one during anesthesia and two during the placement procedure). Successful placement of the prosthesis was achieved in the remaining 12 animals. Overall immediate ASD closure on angiography occurred in 7 of 12 animals (all polyester-filled prostheses). Absent or trace shunt by angiography was present in 11 of 12 devices at 1 week, with the remaining one demonstrating a small shunt. All septal defects were completely closed at 1 month with the exception of one case in which delayed partial dislodgment of an undersized prosthesis into the right atrium had developed. Closure rate at 3 months was 100%. Neoendothelialization and fibrous incorporation of the prosthesis were completed within 1 to 3 months. CONCLUSIONS: Effective and permanent occlusion of secundum ASDs is feasible with a device that offers the advantages of easy placement, self-centering, and repositionability.

Alloys↗
PubMed2000

Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5.

Heterozygous mutations in the cardiac homeobox gene, NKX2-5, underlie familial cases of atrial septal defect (ASD) with severe atrioventricular conduction block. In this study, mice heterozygous for Nkx2-5-null alleles were assessed for analogous defects. Although ASD occurred only rarely, atrial septal dysmorphogenesis was evident as increased frequencies of patent foramen ovale and septal aneurysm, and decreased length of the septum primum flap valve. These parameters were compounded by genetic background effects, and in the 129/Sv strain, septal dysmorphogenesis bordered on ASD in 17% of Nkx2-5 heterozygotes. In a proportion of neonatal heterozygotes, as well as in adults with ASD, we found that the size of the foramen ovale was significantly enlarged and altered in shape, potentially exposing the normally thin septum primum to excessive hemodynamic forces. Therefore, defective morphogenesis of the septum secundum may be one contributing factor in the generation of patent foramen ovale, septal aneurysm, and certain ASDs. Mild prolongation of P-R interval in females and an increased frequency of stenotic bicuspid aortic valves were also features of the Nkx2-5 heterozygous phenotype. Our data demonstrate that the complex effects of Nkx2-5 haploinsufficiency in mice are weaker but convergent with those in humans. As in the mouse, the phenotype of human NKX2-5 mutations may be modulated by interacting alleles.

Alleles↗
PubMed2001

Development and testing of the Helex septal occluder, a new expanded polytetrafluoroethylene atrial septal defect occlusion system.

BACKGROUND: A variety of transcatheter atrial septal defect (ASD) occluders are currently in use around the world. Although for the most part effective, all of these devices lack features that would be desirable in a "perfect" device. The Helex septal occluder is a new type of device designed to improve the results of transcatheter ASD closure. This study was designed to examine the effectiveness and safety of this occluder in an animal model. METHODS AND RESULTS: The Helex was implanted into 24 dogs with surgically created ASDs. Procedural details focusing on deployment, removal, and early closure rates were examined. Follow-up consisted of sequential transesophageal echocardiography and fluoroscopy as well as epicardial contrast echocardiography and angiography at the time of death. Specimens were examined grossly and histologically, and devices were tested for metal fatigue. All animals had successful ASD closure. Implantation was uncomplicated (mean fluoroscopy time 11.7 minutes), and removal or repositioning was always possible. Closure rate as judged by transesophageal echocardiography was 88% initially and 100% at 2-week follow-up. Devices rapidly became infiltrated with connective tissue without inflammation and were endothelialized over time. There were no instances of thromboembolism. A single wire-frame fracture occurred secondary to a prototype delivery system malfunction. CONCLUSIONS: The Helex septal occluder proved safe and effective for ASD closure. Several advantages over currently available devices were evident in this model. Controlled prospective clinical trials are needed.

Animals↗
PubMed2004

The health and social care needs of family carers supporting adults with autistic spectrum disorders.

The families of 26 adults with autistic spectrum disorders (ASDs) who either lived at home or maintained close contact with their families were interviewed about their social and psychological needs related to caring for the person with ASD. In contrast to previous studies of familial carers of children with ASDs, a strong association between parental emotional distress and unmet need was found. Parents also reported a need for more autism-specific intervention and support for adults with ASDs. The study illustrates the continuing and underreported role of families in supporting adults with ASDs.

Adult↗
PubMed2005

Do adolescents with autistic spectrum disorders adhere to social conventions in virtual environments?

The potential for using virtual environments (VEs) in educational contexts for people with autistic spectrum disorders (ASDs) has been recognized. However, very little is known about how people with ASDs interpret and understand VEs. This study aimed to investigate this directly with a group of 12 adolescents with ASDs, each individually matched with comparison participants. Participants were presented with VEs to assess whether they adhered to particular social conventions, such as not walking across grass and flowerbeds en route to a café, or not walking between two people (ostensibly involved in conversation) en route to the bar. Whilst a significant minority of the ASD group adhered to the social conventions, others displayed substantial 'off-task' behaviour and a limited understanding of the VE. It is suggested that some individuals with an ASD, low verbal IQ and weak executive ability require the most support to complete tasks successfully in the VE.

Adolescent↗
PubMed2005

Early social communicative behaviours of preschoolers with autism spectrum disorder during interaction with their mothers.

The present study examined spontaneous symbolic play, declarative joint attention, social referencing and imitation of symbolic play in 3- to 6-year-old children with an autism spectrum disorder (ASD; n = 20) during interaction with their mothers. Compared to a control group (n = 20) matched on age and IQ, the children with ASD initiated less joint attention with their mothers when confronted with a pleasant event and they showed a tendency to play less symbolically and more non-functionally. Contrary to expectations, children with ASD showed no social referencing or imitation deficits. Interestingly, two clusters of intercorrelating behaviours were found in the ASD group: one suggesting symbolic or metarepresentational abilities, the other comprising interpersonal behaviours. The findings support the hypothesis that early social communicative abilities may follow a different developmental pathway in ASD, and stress the importance of a contextual factor, namely the presence of the mother.

Attention↗
PubMed2025

Genotype-phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study.

BACKGROUND: Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are neurodevelopmental conditions caused by genetic variants leading to upregulated signaling in the RAS-MAPK pathway. While previous research has focused on genetic variability in cognitive and cardiac phenotypes, behavioral phenotypes, and their correlations across genetic variants and within the PTPN11 gene remain poorly characterized. METHODS: This study included 121 individuals with NS (PTPN11: 88, SOS1: 18, RAF1: 6, KRAS: 2, RIT1: 3, NRAS: 2, LZTR1: 2, SOS2: 1) and seven individuals with NSML (PTPN11), compared to age- and sex-matched typically developing (TD) (N&#x2009;=&#x2009;71). Behavioral questionnaires assessed social responsiveness and ASD-related traits (using SRS-2), and emotional problems (using CBCL) to identify genetic variant-specific behavioral profiles. Biochemical profiling of SHP2 activity in PTPN11-associated NS variants examined genotype-phenotype relationships. RESULTS: Compared to TD individuals, those with PTPN11-associated NS, NSML, and SOS1-associated NS exhibited clinically elevated scores, indicating increased ASD-related behaviors, poorer social functioning, and heightened emotional problems. Genetic variant comparisons revealed that individuals with PTPN11-associated NS and NSML exhibited greater ASD-related challenges than those with RAF1. Individuals with NSML exhibit elevated attention problems compared to all other genetic groups. Logistic regression results suggested each one-unit increase in SHP2 fold activation for PTPN11-associated NS corresponded to a 64% higher likelihood of markedly elevated restricted and repetitive behaviors, suggesting genotype-phenotype links. LIMITATIONS: Small sample sizes for rarer variants, leading to unequal group sizes across subgroups, with PTPN11 variants comprising most of the NS group. Future research should address these sampling constraints and conduct functional studies to clarify variant impacts. Longitudinal assessments could elucidate behavioral phenotype trajectories. CONCLUSIONS: This study underscores the importance of genetic variant-specific research to understand unique behavioral phenotypes in NS and NSML. Our findings indicate a higher risk for ASD-related symptoms in PTPN11-associated NS and NSML compared to other variants. Additionally, individuals with PTPN11-associated NS and higher SHP2 fold activation exhibited greater impairments in restricted and repetitive behaviors, suggesting SHP2 activation variations may contribute to phenotypic variability. By linking ASD-related symptoms to biochemical predictors in PTPN11-associated NS, this study may inform future targeted treatment approaches.

Humans↗
PubMed2005

Obsessions and compulsions in Asperger syndrome and high-functioning autism.

BACKGROUND: Obsessive-compulsive behaviours are common and disabling in autistic-spectrum disorders (ASD) but little is known about how they compare with those experienced by people with obsessive-compulsive disorder (OCD). AIM: To make such a comparison. METHOD: A group of adults with high-functioning ASD (n=40) were administered the Yale-Brown Obsessive-Compulsive Scale and Symptom Checklist and their symptoms compared with a gender-matched group of adults with a primary diagnosis of OCD (n=45). OCD symptoms were carefully distinguished from stereotypic behaviours and interests usually displayed by those with ASD. RESULTS: The two groups had similar frequencies of obsessive-compulsive symptoms, with only somatic obsessions and repeating rituals being more common in the OCD group. The OCD group had higher obsessive-compulsive symptom severity ratings but up to 50% of the ASD group reported at least moderate levels of interference from their symptoms. CONCLUSIONS: Obsessions and compulsions are both common in adults with high-functioning ASD and are associated with significant levels of distress.

Adult↗
PubMed1998

Serum dehydroepiandrosterone (DHEA) and DHEA sulfate are negatively correlated with serum interleukin-6 (IL-6), and DHEA inhibits IL-6 secretion from mononuclear cells in man in vitro: possible link between endocrinosenescence and immunosenescence.

Interleukin-6 (IL-6) is one of the pathogenetic elements in inflammatory and age-related diseases such as rheumatoid arthritis, osteoporosis, atherosclerosis, and late-onset B cell neoplasia. In these diseases or during aging, the decrease in production of sex hormones such as dehydroepiandrosterone (DHEA) is thought to play an important role in IL-6-mediated pathogenetic effects in mice. In humans, we investigated the correlation of serum levels of DHEA, DHEA sulfate (DHEAS), or androstenedione (ASD) and IL-6, tumor necrosis factor-alpha, or IL-2 with age in 120 female and male healthy subjects (15-75 yr of age). Serum DHEA, DHEAS, and ASD levels significantly decreased with age (all P < 0.001), whereas serum IL-6 levels significantly increased with age (P < 0.001). DHEA/DHEAS and IL-6 (but not tumor necrosis factor-alpha or IL-2) were inversely correlated (all patients: r = -0.242/-0.312; P = 0.010/0.001). In female and male subjects, DHEA and ASD concentration dependently inhibited IL-6 production from peripheral blood mononuclear cells (P = 0.001). The concentration-response curve for DHEA was U shaped (maximal effective concentration, 1-5 x 10(-8) mol/L), which may be the optimal range for immunomodulation. In summary, the data indicate a functional link between DHEA or ASD and IL-6. It is concluded that the increase in IL-6 production during the process of aging might be due to diminished DHEA and ASD secretion. Immunosenescence may be directly related to endocrinosenescence, which, in turn, may be a significant cofactor for the manifestation of inflammatory and age-related diseases.

Adolescent↗
PubMed1986

Symptomatic progressive ventriculomegaly in hydrocephalics with patent shunts and antisiphon devices.

The antisiphon device (ASD) was designed to prevent excessive negative intracranial pressure and overdrainage with cerebrospinal fluid shunts. It has been recommended for prevention of slit ventricles and extreme shunt dependency. It was used by the author in 40 children and young adults who had low pressure headaches or were judged to be at risk for the development of subdural hematomas because of extreme hydrocephalus, relatively fixed head size, or tall stature. Nine patients encountered problems with adverse symptoms in spite of shunt patency. Four had alarming neurological symptoms of coma or severe headaches after incorporation of ASDs in ventriculoperitoneal shunt systems. With patients in the horizontal position, shunt patency was documented but computed tomography revealed progressive ventriculomegaly when they were kept erect. Symptoms abated and ventricular size diminished after conversion to proximal medium pressure diaphragm or spring-ball valve systems without ASDs. Because long shunt systems with ASDs require adequate hydrostatic columns to initiate flow when patients are erect, it is theorized that such symptoms could have been prevented by placing ASDs farther downstream from the cerebral ventricles.

Adolescent↗