Increased Extra-axial Cerebrospinal Fluid in High-Risk Infants Who Later Develop Autism.

BACKGROUND: We previously reported that infants who developed autism spectrum disorder (ASD) had increased cerebrospinal fluid (CSF) in the subarachnoid space (i.e., extra-axial CSF) from 6 to 24 months of age. We attempted to confirm and extend this finding in a larger independent sample. METHODS: A longitudinal magnetic resonance imaging study of infants at risk for ASD was carried out on 343 infants, who underwent neuroimaging at 6, 12, and 24 months. Of these infants, 221 were at high risk for ASD because of an older sibling with ASD, and 122 were at low risk with no family history of ASD. A total of 47 infants were diagnosed with ASD at 24 months and were compared with 174 high-risk and 122 low-risk infants without ASD. RESULTS: Infants who developed ASD had significantly greater extra-axial CSF volume at 6 months compared with both comparison groups without ASD (18% greater than high-risk infants without ASD; Cohen's d = 0.54). Extra-axial CSF volume remained elevated through 24 months (d = 0.46). Infants with more severe autism symptoms had an even greater volume of extra-axial CSF from 6 to 24 months (24% greater at 6 months, d = 0.70; 15% greater at 24 months, d = 0.70). Extra-axial CSF volume at 6 months predicted which high-risk infants would be diagnosed with ASD at 24 months with an overall accuracy of 69% and corresponding 66% sensitivity and 68% specificity, which was fully cross-validated in a separate sample. CONCLUSIONS: This study confirms and extends previous findings that increased extra-axial CSF is detectable at 6 months in high-risk infants who develop ASD. Future studies will address whether this anomaly is a contributing factor to the etiology of ASD or an early risk marker for ASD.

Network inefficiencies in autism spectrum disorder at 24 months.

Autism spectrum disorder (ASD) is a developmental disorder defined by behavioral symptoms that emerge during the first years of life. Associated with these symptoms are differences in the structure of a wide array of brain regions, and in the connectivity between these regions. However, the use of cohorts with large age variability and participants past the generally recognized age of onset of the defining behaviors means that many of the reported abnormalities may be a result of cascade effects of developmentally earlier deviations. This study assessed differences in connectivity in ASD at the age at which the defining behaviors first become clear. There were 113 24-month-old participants at high risk for ASD, 31 of whom were classified as ASD, and 23 typically developing 24-month-old participants at low risk for ASD. Utilizing diffusion data to obtain measures of the length and strength of connections between anatomical regions, we performed an analysis of network efficiency. Our results showed significantly decreased local and global efficiency over temporal, parietal and occipital lobes in high-risk infants classified as ASD, relative to both low- and high-risk infants not classified as ASD. The frontal lobes showed only a reduction in global efficiency in Broca's area. In addition, these same regions showed an inverse relation between efficiency and symptom severity across the high-risk infants. The results suggest delay or deficits in infants with ASD in the optimization of both local and global aspects of network structure in regions involved in processing auditory and visual stimuli, language and nonlinguistic social stimuli.

Mobile stroke unit for diagnosis-based triage of persons with suspected stroke.

BACKGROUND: In this feasibility study, we tested whether prehospital diagnostic stroke workup enables rational decision-making regarding treatment and the target hospital in persons with suspected stroke. METHODS: A mobile stroke unit that delivers imaging (including multimodal brain imaging with CT angiography and CT perfusion), point-of-care-laboratory analysis, and neurologic expertise directly at the emergency site was analyzed for its use in prehospital diagnosis-based triage of suspected stroke patients. RESULTS: We present 4 complementary cases with suspected stroke who underwent prehospital diagnostic workup that enabled direct diagnosis-based treatment decisions and reliable triage regarding the most appropriate medical facility for that individual, e.g., a primary hospital vs specialized centers of a tertiary hospital. CONCLUSIONS: This preliminary report demonstrates the feasibility of prehospital diagnostic stroke workup for immediate etiology-specific decision-making regarding the necessary time-sensitive stroke treatment and the most appropriate target hospital.

Early (mucosal) gastric cancer with synchronous osteosclerotic bone metastases: a case report.

Early gastric cancer (EGC) is defined as an adenocarcinoma confined to the gastric mucosa or submucosa, regardless of the presence of lymph node metastases. Early gastric cancer carries an excellent prognosis, with a 5-year survival rate at least 85% in most series. However, there are rare cases where distant metastases exist. Bone metastases are rare in gastric cancer; osteoblastic bone metastases are even rarer. We report a patient with EGC (mucosal) and synchronous osteosclerotic bone metastasis. To our knowledge, this is the first reported case of submucosal EGC with synchronous bone metastases. The patient was operated and he received adjuvant chemotherapy and radiotherapy. He died 18 months after gastric surgery from generalized disease.

[Multiple sclerosis]. / Multiple Sklerose.

Multiple sclerosis is the most common chronic inflammatory disease of myelin with interspersed lesions in the white matter of the central nervous system. Magnetic resonance imaging (MRI) plays a key role in the diagnosis and monitoring of white matter diseases. This article focuses on key findings in multiple sclerosis as detected by MRI.

Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.

In this report, we describe the first known patient with a deficiency of sterol carrier protein X (SCPx), a peroxisomal enzyme with thiolase activity, which is required for the breakdown of branched-chain fatty acids. The patient presented with torticollis and dystonic head tremor as well as slight cerebellar signs with intention tremor, nystagmus, hyposmia, and azoospermia. Magnetic resonance imaging showed leukencephalopathy and involvement of the thalamus and pons. Metabolite analyses of plasma revealed an accumulation of the branched-chain fatty acid pristanic acid, and abnormal bile alcohol glucuronides were excreted in urine. In cultured skin fibroblasts, the thiolytic activity of SCPx was deficient, and no SCPx protein could be detected by western blotting. Mutation analysis revealed a homozygous 1-nucleotide insertion, 545_546insA, leading to a frameshift and premature stop codon (I184fsX7).

Squamous cell carcinoma of the rectum: a case report and review of the literature.

Squamous cell carcinoma of the colon and rectum are extremely rare neoplasms. Many questions regarding their histogenesis and biological behaviour remain unanswered. Surgery is the most effective therapy, and adjuvant chemotherapy and radiotherapy should be considered, especially for node-positive patients. We present a patient with squamous cell carcinoma of the middle rectum who underwent abdominoperineal resection and postoperative adjuvant chemotherapy. The pertinent literature is reviewed.

Hepatitis caused by occupational chronic exposure to trichloroethylene.

Trichloroethylene (TCE) is an organic solvent used in a variety of industries for more than 60 years. Several adverse events following acute or chronic exposure to trichloroethylene have been reported. However, TCE-induced hepatitis is very rare. We present the case of a 55-year old male who was presented with anorexia, fatigue and upper abdominal discomfort. Routine laboratory examination revealed marked elevation of liver enzyme values. All possible causes of hepatitis were ruled out. The patient has been working as a shoemaker, in a small room of a basement, with insufficient air-exchange; during the last 5 years he used daily a glue containing 1,1,1 trichloroethylene. The diagnosis of hepatitis was confirmed by liver biopsy. The offending agent was withdrawn. Three months later, he was "feeling well" and liver enzyme values had returned to normal. Six months after the initial biopsy, a second liver biopsy was performed and histology was markedly improved. Workers exposed to hazardous chemicals, such as trichloroethylene, must have periodic follow-up examinations. Good work practices are very important when using toxic substances. In patients whose initial diagnostic workout is negative for common causes of acute or chronic hepatitis, toxic causes should be considered, with emphasis on patient's job and working conditions.

Buried bumper syndrome with a fatal outcome, presenting early as gastrointestinal bleeding after percutaneous endoscopic gastrostomy placement.

Percutaneous Endoscopic Gastrostomy (PEG) has gained wide acceptance among patients who require prolonged tube-feeding support. A rather unusual complication of PEG placement is migration of the internal bumper through or into the abdominal wall. This was first described in 1988 and is called the buried bumper syndrome (BBS). The syndrome is a late complication of PEG tube placement. The manifestations of the syndrome must be recognised and the patient referred for emergency endoscopy and removal of the bumper. Failure to recognise this syndrome may result in serious complications including gastrointestinal bleeding, perforation of the stomach, peritonitis and death. We describe a case where a patient developed the buried bumper syndrome quite early after PEG placement. The syndrome manifested with gastrointestinal bleeding. Although we removed the buried bumper endoscopically, and placed another PEG tube, the patient developed peritonitis and died 16 hours after the removal of the migrated bumper.

Are metal stents effective for palliation of malignant dysphagia and fistulas?

BACKGROUND: One of the available treatments for unresectable oesophagogastric malignancies is the insertion of metal stents. AIMS: We evaluated prospectively 147 patients suffering from malignant dysphagia and/or fistula, after inserting a self-expandable metal stent. PATIENTS AND METHODS: The study included 147 patients (87 males, mean age 73 years). Dysphagia before and after stent placement was scored. Patients were divided in two groups according to dysphagia grade: group A (grade 0, 1) and group B (grades 2, 3, 4). Three types of stents were used: the Ultraflex stent (covered and uncovered) and the Flamingo one (covered). The total number of self-expandable metal stents placed was 183. A total of 92 of them were inserted following the combined endoscopic and fluoroscopic approach (42 by injecting lipiodol), while 91 were placed under endoscopic control only. Early and late complications were evaluated. RESULTS: Mean dysphagia score in group A, 1 day and 1 month after the procedure, was slightly reduced from 0.8 to 0.5/0.6 (p=NS), respectively. However, there was a statistically significant improvement (p<0.001) of mean dysphagia score in group B, from 2.4 initially to 1.1/1.4. Early complications occurred in 37 cases, late ones in 51. According to severity, minor complications occurred in 24 patients, major in 42, while life-threatening ones in 22. Survival ranged from 1 to 611 days and 1-week mortality was 9%. Stent-related death occurred in six patients. CONCLUSIONS: All kinds of endoscopic methods used for stenting in the present study were easy to perform even on an out-patient basis. Insertion of self-expandable metal stents is effective in patients with dysphagia scores > or = 2. It might not clinically improve patients with dysphagia score <2, so selection of patients for stenting is essential to avoid unnecessary procedures. Moreover, their high cost, high complication rates and low overall survival may improve following better selection criteria.

Omeprazole plus azithromycin and either amoxicillin or tinidazole for eradication of Helicobacter pylori infection.

GOALS: To establish whether omeprazole plus azithromycin in association with either amoxicillin or tinidazole is effective in curing Helicobacter pylori infection in dyspeptic patients. BACKGROUND: Many antibiotics in combination with antisecretory drugs have been used in an attempt to find the optimal regimen for eradication of H. pylori. Azithromycin is a macrolide that achieves high concentrations in gastric tissue after a single 500-mg oral dose. STUDY: A total of 160 consecutive symptomatic patients with H. pylori received omeprazole 20 mg twice daily for 1 week, azithromycin 500 mg/d for 3 days, and were randomly assigned to either amoxicillin 1 g twice daily (OAzAm group, n = 80) for 1 week or tinidazole 500 mg twice daily for 3 days (OAzT group, n = 80). H. pylori status was assessed by rapid urease test and histology at entry and by histology and (13)C-urea breath test after the end of the therapy. RESULTS: H. pylori was eradicated in 62.5% of patients in the OAzAm group (intention to treat [ITT] 62.5%) and in 71.2% of patients in the OAzT group (ITT 71.2%). CONCLUSIONS: Although the compliance was excellent and the side effects negligible, the regimens used were partially effective for the eradication of H. pylori.

Orbitofrontal involvement in the processing of unpleasant auditory information.

Although little is known about the contribution of the orbitofrontal cortex to the processing of new information in man, lesion studies in monkeys have suggested that it plays a critical role. The present study investigated changes in cerebral blood flow with positron emission tomography in normal human subjects during exposure to unpleasant auditory stimuli. The results indicated that the caudal orbitofrontal cortex, area 13, which is powerfully linked to the medial temporal limbic region and is involved in the regulation of autonomic responses, is a key part of the frontal cortex responding in the face of unpleasant incoming information.