An autosomal genomic screen for autism. Collaborative linkage study of autism

Autism is a severe neurodevelopmental disorder defined by social and communication deficits and ritualistic-repetitive behaviors that are detectable in early childhood. The etiology of idiopathic autism is strongly genetic, and oligogenic transmission is likely. The first stage of a two-stage genomic screen for autism was carried out by the Collaborative Linkage Study of Autism on individuals affected with autism from 75 families ascertained through an affected sib-pair. The strongest multipoint results were for regions on chromosomes 13 and 7. The highest maximum multipoint heterogeneity LOD (MMLS/het) score is 3.0 at D13S800 (approximately 55 cM from the telomere) under the recessive model, with an estimated 35% of families linked to this locus. The next highest peak is an MMLS/het score of 2.3 at 19 cM, between D13S217 and D13S1229. Our third highest MMLS/het score of 2.2 is on chromosome 7 and is consistent with the International Molecular Genetic Study of Autism Consortium report of a possible susceptibility locus somewhere within 7q31-33. These regions and others will be followed up in the second stage of our study by typing additional markers in both the original and a second set of identically ascertained autism families, which are currently being collected. By comparing results across a number of studies, we expect to be able to narrow our search for autism susceptibility genes to a small number of genomic regions. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:609-615, 1999.     

Immunolocalization of a human cementoblastoma-conditioned medium-derived protein

Little is known about the molecular mechanisms that regulate the cementogenesis process, because specific cementum markers are not yet available. To investigate whether a cementoblastoma-conditioned medium-derived protein (CP) could be useful as a cementum biological marker, we studied its expression and distribution in human periodontal tissues, human periodontal ligament, alveolar bone, and cementoblastoma-derived cells. In human periodontal tissues, immunoreactivity to anti-CP was observed throughout the cementoid phase of acellular and cellular cementum, cementoblasts, cementocytes, cells located in the endosteal spaces of human alveolar bone, and in cells in the periodontal ligament located near the blood vessels. Immunopurified CP promoted cell attachment on human periodontal ligament, alveolar bone-derived cells, and gingival fibroblasts. A monoclonal antibody against bovine cementum attachment protein (CAP) cross-reacted with CP. These findings indicate that CP identifies potential cementoblast progenitor cells, is immunologically related to CAP species, and serves as a biological marker for cementum.     

Taenia solium: antioxidant metabolism enzymes as targets for cestocidal drugs and vaccines

This review focuses in the role that antioxidant enzymes play in protection and other important physiological functions such as signal transduction, cell differentiation, growth and apoptosis. Parasites use these enzymes to evade ROS produced by the host immune response and for development inside the host. In the cestoda Taenia solium, three antioxidant enzymes have been studied: a cystosolic Cu,Zn superoxide dismutase that is a target of cestocidal drugs (bencimidazoles); a 2-Cys peroxiredoxin that is a regulatory enzyme of H(2)O(2), molecule essential for several physiological functions; and two isoforms of glutathione transferases that are immunological targets, since they protect immunized mice against cysticercosis. Moreover, all these enzymes are present in all stages of the parasite. These findings suggest that antioxidant enzymes have an important role in T. solium physiology and infection, therefore they might represent the Achilles' heel of the parasite.     

Surgical complication outcome (SCOUT) score: A new method to evaluate quality of care in vascular surgery

Purpose: Surgical outcome data are generally reported as raw morbidity and mortality rates, which do not necessarily reflect quality of surgical care. The Society for Vascular Surgery has led this area with recommendations by the Ad Hoc Committee on Reporting Standards to establish standardized methods of outcome assessment in vascular surgery. The purpose of this study was to evaluate a new method for evaluating the overall quality of surgical care, which includes surgeon, nursing, and hospital system performance. The goal of the method is to identify problem areas in surgical practice that can be targeted for focused improvement to improve outcome.Methods: A database of more than 9000 general and vascular surgical cases was compiled over a 3-year period. Every postoperative complication was tabulated prospectively by a surgical nurse on a daily basis. Fifty clinically significant complication types specific for vascular surgery patients were identified from a list of 151 postoperative events by a panel of vascular surgeons and were grouped into nine broad categories (vascular, cardiac, pulmonary, etc.). These complications reflect the entire continuum of postoperative care, including surgeon, nursing, and hospital system performance. Each complication type was further stratified into four grades (mild, moderate, severe, death) and assigned a SCOUT severity score from 0 to 100 (0, no complication; 100, death) by the panel of surgeons. For ease of data collection and monitoring of outcome, a software program was developed to run on a laptop computer and includes medical history, risk factors, pertinent laboratory data, and the preassigned SCOUT severity scores for measuring outcome. In this study, 170 major vascular procedures performed over the previous 12-month period were prospectively evaluated using the SCOUT method in an attempt to more easily identify problem areas of practice. In-hospital morbidity and 30-day mortality results were examined.Results: One hundred sixteen postoperative complications were identified in the 170 patients, with an overall morbidity rate of 51% and a 30-day mortality rate of 1.8%. Fifty-three percent of the complications were “mild” and required minimal intervention or observation only. Abdominal aortic aneurysm repair was associated with the highest morbidity rate (mean SCOUT score, 384.35), whereas distal extremity bypass grafting had the lowest morbidity rate (mean SCOUT score, 114.4). However, subgroup analysis demonstrated that cardiac events accounted for 52% of the morbidity associated with distal extremity bypass but only 34.7% of the morbidity associated with abdominal aortic aneurysm repair (p < 0.05).Conclusions: The SCOUT score is a new technical quality of care measure that can objectively quantify surgeon and other hospital system–related performance. The SCOUT score allows the surgeon to identify problem areas that can then be targeted for improvement to positively affect outcome. (J Vasc Surg 1997;25:1007-15.)     

Eyelid bleeding and atypical amyloidosis

PURPOSE: To describe a case of atypical systemic amyloidosis in a patient who presented with recurrent subcutaneous bleeding of the eyelids and auricles. DESIGN: Observational case report. METHODS: A 52-year-old man with chronic cardiac failure, hypertension, weight loss, and impotence presented with recurrent bleeding of the eyelids and auricles, and was investigated for suspected amyloidosis. RESULTS: Biopsy specimens taken from the bone marrow, salivary gland, abdominal subcutaneous fat, and gastric mucosa, and eyelids were all negative for Congo red. Results of a conjunctival biopsy, which were returned after the patient's death, and cardiac muscle autopsy were positive for Congo red staining, indicating amyloidosis. CONCLUSION: The findings in this case show that the presentation of amyloidosis may be atypical. Ophthalmologists should consider a diagnosis of amyloidosis in patients with periorbital bleeding, even if biopsies are negative for Congo red. A conjunctival biopsy may be useful in establishing a diagnosis of primary systemic amyloidosis.     

Hearing in children with a history of acute otitis media. Use of paracentesis

The examination of 103 children aged 1 year to 5 years had acute otitis media purulenta. They were treated with paracentesis which had a positive effect on recovery of the acoustic function. It is shown that children with previous acute otitis media should be followed up to control recovery of hearing.