Part 2: Components of a comprehensive diagnostic evaluation for autism spectrum disorders

Part two in this series will discuss the American Academy of Pediatrics suggestions for the components of a comprehensive autism assessment. A better understanding about the critical components of a comprehensive assessment for ASD can help the PCP be an informed consumer of the information provided in report(s) from the referral source. This information also helps the PCP have a better understanding of what additional evaluations might be needed to provide a complete clinical picture of the child. This knowledge will guide the PCP in translating these evaluation components into a meaningful treatment plan for the child.     

Metabolic Imbalance Associated with Methylation Dysregulation and Oxidative Damage in Children with Autism

Oxidative stress and abnormal DNA methylation have been implicated in the pathophysiology of autism. We investigated the dynamics of an integrated metabolic pathway essential for cellular antioxidant and methylation capacity in 68 children with autism, 54 age-matched control children and 40 unaffected siblings. The metabolic profile of unaffected siblings differed significantly from case siblings but not from controls. Oxidative protein/DNA damage and DNA hypomethylation (epigenetic alteration) were found in autistic children but not paired siblings or controls. These data indicate that the deficit in antioxidant and methylation capacity is specific for autism and may promote cellular damage and altered epigenetic gene expression. Further, these results suggest a plausible mechanism by which pro-oxidant environmental stressors may modulate genetic predisposition to autism.     

Iloprost use and medical management of systemic sclerosis-related vasculopathy in Italian tertiary referral centers: results from the PROSIT study

Clinical and Experimental Medicine - Vasculopathy is a crucial feature of systemic sclerosis (SSc), and Raynaud’s phenomenon (RP) and digital ulcers (DU) have a deep impact on the quality of...     

Basic fibroblast growth factor and myointimal hyperplasia after experimental polytetrafluoroethylene arterial grafting.

OBJECTIVE: To assess the role of polyclonal antibodies to basic fibroblast growth factor (bFGF) in inhibiting myointimal hyperplasia after insertion of polytetrafluoroethylene (PTFE) grafts in rats. DESIGN: Experimental study. SETTING: University laboratory, Italy. ANIMALS: 24 inbred Lewis rats. INTERVENTIONS: A segment of PTFE I cm long was interposed in the abdominal aorta. The animals were randomised in two groups, n = 12 in each. The first were given polyclonal antibodies to bFGF at the time of operation, and for the first two postoperative days; and the second were given non-specific IgG at the same time periods. MAIN OUTCOME AND MEASURES: Two animals died during the immediate postoperative period of anaesthetic complications. 12 animals (6 in each group) were killed 7 days postoperatively (24 hours after injection of 5-bromo-deoxyuridine BrdU) to assess smooth muscle cell proliferation. The remaining 10 animals (5 in each group) were killed after 1 month to assess the degree of anastomotic myointimal hyperplasia. RESULTS: Antibodies to bFGF resulted in less smooth muscle cell proliferation at the anastomoses as well as anastomotic myointimal hyperplasia. Smooth muscle cell proliferation was reduced to about half in animals treated with anti-bFGF antibodies. Neointimal thickness was reduced in treated animals. CONCLUSIONS: We conclude that after PTFE arterial grafting there is increased production of bFGF at the anastomotic regions that leads to smooth muscle cell proliferation and formation of myointimal hyperplasia. Agents that reduce the production of bFGF may also reduce the development of myointimal hyperplasia after PTFE arterial grafting.     

Primary biliary cirrhosis and rheumatic diseases: a clinical, immunological and immunogenetical study

Clinical investigation of Primary Biliary Cirrhosis (PBC) patients showed an elevated frequency of rheumatic disorders, as well as their frequent appearance in asymptomatic PBC. Anticentromere region antibodies in PBC patients were pathognomonic for concomitant complete or incomplete CREST syndrome. These antibodies were only found on the HEp2 cell substrate. The constant finding of immune-complexes (IC) with IgM antibody component suggests that they play a role in the pathogenesis of PBC. No statistically significant correlation was found between the amount and classes of circulating IC, HLA class I antigens and rheumatic disorders during PBC.     

Echotomography in the diagnosis of Crohn's disease

The diagnostic accuracy of abdominal ultrasonography in Crohn's disease has been assessed in a prospective, randomized, simple-blind controlled study. A group of 181 out-patients (89 with accertained Crohn's disease and 92 controls) was studied. Considering "target sign" and/or "probable signs" of Crohn's disease, ultrasonographic sensitivity in diagnosing Crohn's disease was 84% and specificity 83%. Abdominal ultrasonography is indicated in the differential diagnosis of inflammatory bowel diseases, in the screening and follow-up of patients with Crohn's disease and in cases with contraindications to X-Ray examinations.     

The positive side of the coin: Sars-Cov-2 pandemic has taught us how much Telemedicine is useful as standard of care procedure in real life

Clinical Rheumatology - Patients and health workers were at high risk of infection during the Sars-Cov-2 pandemic lockdown. For this reason, other medical and clinical approaches such as...     

Laparoscopic diagnosis and treatment of primary torsion of the greater omentum

Clinical presentation of primary torsion of the greater omentum is nonspecific, thus rarely allowing for a preoperative diagnosis. Three patients presented with acute but nonspecific abdominal symptoms. Because ultrasonographic and radiologic findings were unclear, all patients underwent diagnostic laparoscopy. In all cases, laparoscopy enabled us to achieve the diagnosis and to perform a resection of necrotic omentum. The mean duration of the procedure was 56 minutes (range: 42 to 76). The postoperative course was uneventful and the patients were discharged on postoperative day 1 (2) and 3. The value of diagnostic laparoscopy increases when the disease can be treated laparoscopically. The laparoscopic vision allowed us to explore the whole peritoneal cavity, so achieving the diagnosis, and to place the operative trocars at the most convenient sites. The laparoscopic resection of the greater omentum is an easy task even for inexperienced laparoscopic surgeons, allowing patients to benefit from the advantages of a mini-invasive approach.