Disease relevance of ARSD

• Four had structural anomalies including: ASD (n = 1); ptosis and esotropia (n = 1); labial fusion (n = 1); and urogenital sinus, dysplastic kidneys, and hydrometrocolpos (n = 1) [1].
• A case of localized stenosis of the lower left pulmonary vein, associated with perimembranous ventricular septal defect (VSD) and secundum atrial defect (ASD), a borderline sized mitral valve apparatus and left ventricle, is described [2].
• In a Pakistani family with a high degree of multigenerational consanguinity, a single case with the Robinow phenotype also had congenital heart disease, mainly involving the right side of the heart, with pulmonary stenosis, tricuspid atresia, ASD, VSD, double outlet right ventricle, and right atrial isomerism [3].
• No relation was found between arrhythmias and type of ASD, baseline data, right ventricular dimensions, or age at operation [4].
• ASD closure for migraine: is there a scientific basis [5]?

Psychiatry related information on ARSD

• CONCLUSIONS: The CSDC, an observer-report instrument of ASD and PTSD in children, has important utility in clinical and research settings [6].
• We report on a boy with a combination of manifestations reminiscent of aminopterin embryopathy: brachyturricephaly with craniosynostosis, poorly mineralised vault, upslanted palpebral fissures, malar hypoplasia, high-arched palate, micrognathia, thick, abnormal auricles, ASD, minor hand anomalies, growth and mental retardation [7].
• It can be hoped that many individuals currently diagnosed as ASD, primary dementia, senile dementia, or OBS and relegated to a custodial or nursing-home existence would respond to treatment sufficiently to enjoy a better existence in their remaining years [8].
• This study investigated acutely traumatized participants with either acute stress disorder (ASD; n = 15) or no ASD (n = 14) and nontraumatized comparison participants (n = 16) [9].
• High functioning children with a diagnosis of autism or Asperger's syndrome (HF-ASD) often experience difficulties organising goal-directed actions in their day-to-day lives, requiring support to schedule daily activities [10].

High impact information on ARSD

• These results strongly support the model that S(MK) box translational repression operates through occlusion of the ribosome binding site and that SAM binding requires the SD-ASD pairing [11].
• ARSD is clinically heterogeneous and is likely to result from mutations in developmental genes or from regulating transcription factors [12].
• Closure of ASD: what aggravates the migrainous diathesis [13]?
• Trisomy 14 mosaicism with 6% trisomic cells in blood and 16% in skin fibroblasts was found in a 2 year 2 month old girl with mild psychomotor retardation, craniofacial dysmorphism, pectus carinatum, curved fifth fingers, retarded bone age, and signs of an ASD [14].
• MEG-A2 cells showed positive phenotypes for periodic acid Schiff and alpha-naphthylbutyrate esterase reactions, but were negative for myeloperoxidase and naphthol ASD chloroacetate esterase reactions [15].

Chemical compound and disease context of ARSD

• We report the first case in the world literature of a patient with an atrial septal defect, severe pulmonary hypertension, and equalization of pulmonary and systemic pressures, who underwent successful closure of an ASD following prolonged therapy with the intravenous vasodilator epoprostenol [16].

Biological context of ARSD

• We identified a novel protein isoform of the ARSD gene by isolation of a series of cDNA clones from a human testis cDNA library [17].
• Glycogenin-2 maps between the microsatellite anchor markers AFM319te9 (DXS7100) and AFM205tf2 (DXS1060), and its 3' end is 34.5 kb from the 3' end of the arylsulphatase gene ARSD [18].
• With lipopolysaccharide (LPS), a stimulant for innate immunity, peripheral blood mononuclear cells (PBMCs) from 59/71 (83.1%) ASD patients produced >2 SD above the control mean (CM) values of TNF-alpha, IL-1beta, and/or IL-6 produced by control PBMCs [19].
• Use of a donor heart that had undergone previous cardiac surgery for ASD closure [20].
• Forced vital capacity values (3.51 L, mean SD +/- 1.02) were lower than predicted values (4.10 L, mean SD +/- 0.90, p <0.0001) for all patients groups except those with ASD [21].

Anatomical context of ARSD

• WEHI-3B-Y1 cells are immature undifferentiated cells which show positive staining for naphthol ASD chloroacetate esterase and alpha-naphthyl butyrate esterase and spontaneously exhibit a low level of differentiation to mature granulocytes and macrophages [22].
• They were selected on the basis of the morphology of the blast cells on Romanowsky-stained smears of blood and bone marrow, as well as positivity of the cells for the naphthol ASD acetate esterase reaction specifically inhibited by sodium fluoride [23].
• Eosinophils showed atypical cytochemical reactions with PAS in ten of ten cases studied, with naphthol ASD Chloroacetate in ten of ten cases, and with combined naphthol ASD Chloroacetate esterase- chlorazol fast pink in seven of nine cases tested [24].
• Postmortem findings include underdeveloped cerebellum, a thymus with moderate depletion of thymocytes, a large PDA, ASD, small adrenal, and fatty change of the liver [25].
• CONCLUSION: Children with LKSV and ASD have a greater frequency of serum antibodies to brain endothelial cells and to nuclei than children with NNIs or healthy children [26].

Associations of ARSD with chemical compounds

• Forty patients younger than 14 yr old scheduled to undergo repair of ASD or VSD were randomized to receive halothane, sevoflurane, isoflurane, or fentanyl/midazolam [27].
• Napthyl ASD chloroacetate esterase and PAS stainings also correlated with morphology (in 10/22 and 10/24 patients respectively) [28].
• In this study, we compared the effects of halothane, isoflurane, sevoflurane, and fentanyl/midazolam on Qp:Qs and myocardial contractility in patients with atrial (ASD) or ventricular (VSD) septal defects [27].
• Blood and bone marrow cells of the straw-coloured fruit bat, Eidolon helvum were examined for Sudan black B and periodic acid-Schiff (PAS)-positive material, peroxidase, naphthol ASD chloroacetate esterase and beta-glucuronidase [29].
• In Case 1, the patient, a 10-year-old girl, had poorly differentiated myeloblasts (FAB M1), which were weakly positive for Sudan black B (SBB), but negative for alpha naphthyl acetate esterase (NAE) and naphthol ASD chloroacetate esterase (CAE) [30].

Other interactions of ARSD

• Sterol and very long chain fatty acid profiles, FISH analysis for SHOX gene deletions, blood lymphocyte karyotype, and phytanic acid levels were normal in those tested, and no mutations in arylsulfatase D and E genes were detected [31].

Analytical, diagnostic and therapeutic context of ARSD

• METHODS AND RESULTS: One hundred and thirty-five consecutive ASD-patients, operated on in childhood, were studied longitudinally with ECG, echocardiography, exercise testing and Holter-recording 15 (10-22) and 26 (21-33) years after surgery [4].
• Multislice continuous arterial spin labeling (CASL) using alternating single adiabatic inversion (SAI) and double adiabatic inversion (DAI) (ASD) suffers from control inefficiencies that reduce the perfusion signal-to-noise ratio (SNR) [32].
• N-ANP levels in the peripheral blood sample from ASD patients before surgery were significantly higher than those in the control group [33].
• After ASD closure using hypothermia instead of cardiopulmonary bypass, the incidence of dysrhythmias was significant lower [34].
• MR guidance has been used recently to navigate endovascular catheters and deliver stents in large (aorta and pulmonary) and small (coronary, renal, and femoral) arteries, place ASD closure devices, deliver pulmonary valve stents, guide cardiac RF ablations, and perform intramyocardial injections [35].

References