Search results for "Norm"
showing 10 items of 4018 documents
Gastric outlet obstruction in a neonate because of Peutz-Jeghers syndrome
2012
Neonatal detection of Peutz-Jeghers syndrome is unusual with only 2 cases previously reported in the literature. We describe a neonate presenting with gastric outlet obstruction owing to 2 large Peutz-Jeghers polyps. The child's father and grandmother were known to have Peutz-Jeghers syndrome. On the ninth day of life, the infant underwent colonoscopy, abdominal exploration, and complete surgical resection of 3 polyps. The postoperative course was uneventful, and the patient was discharged home at the age of 3 weeks on full oral feeds. This is the first case report of inherited Peutz-Jeghers syndrome causing gastric outlet obstruction in a neonate.
A new germline mutation in BRCA1 gene in a sicilian family with ovarian cancer
2005
A group of 103 sicilian patients with hereditary and familiar breast and/or ovarian cancer were screened for Breast Cancer 1 gene (BRCA1) mutations by direct sequencing PCR products spanning the coding region and partial intronic regions of the BRCA1 gene. In this study, we report a new germline mutation in BRCA1 gene, not previously reported in the BIC database, in a woman with ovarian cancer at 46 years old. Mother's proband has been diagnosed the same histotype of ovarian cancer at 42 age. The mutational analyses that shown a 4843delC frameshift mutation in exon 16 of BRCA1 gene was extended to other family members including the proband's brother and her two sons. Direct automatic sequen…
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psych…
2013
Abstract: Background Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions. Methods We report for the first time seven patients with interstitial deletions at the 3q27.3q28 locus gathered through the Decipher database, and suggest this locus as a new microdeletional syndrome. Results The patients shared a recognisable facial dysmorphism and marfanoid habitus, associated with psychosis and mild to severe intellectual disability (ID). Most of the patients had no delay in gross psychomotor acquisition, but ha…
Increased amygdala and parahippocampal gyrus activation in schizophrenic patients with auditory hallucinations: An fMRI study using independent compo…
2010
Objective: Hallucinations in patients with schizophrenia have strong emotional connotations. Functional neuroimaging techniques have been widely used to study brain activity in patients with schizophrenia with hallucinations or emotional impairments. However, few of these Studies have investigated the association between hallucinations and emotional dysfunctions using an emotional auditory paradigm. Independent component analysis (ICA) is an analysis method that is especially useful for decomposing activation during complex cognitive tasks in which multiple operations occur simultaneously. Our aim in this Study is to analyze brain activation after the presentation of emotional auditory stim…
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry
2017
Objectives: Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease that should be recognised by psychiatrists as a possible underlying cause of psychiatric abnormalities. This...
Incidence of thromboembolic complications in patients with mechanical heart valves with a subtherapeutic international normalized ratio.
2008
Objective Subtherapeutic international normalized ratios are frequently encountered in clinical practice, and patients with mechanical heart valves with inadequate anticoagulation may be exposed to an increased risk of thromboembolic events. There are no data on thromboembolic event risk for these patients. Methods We assessed the current practice patterns in the management of patients with mechanical heart valves with subtherapeutic international normalized ratios and assessed the risk of thromboembolic complications in this setting. The charts of patients with mechanical heart valves followed up in two anticoagulation clinics were reviewed. Patients with a history of stable, therapeutic a…
GAA trinucleotide repeat expansion in variant Friedreich's ataxia families.
1997
Phenotypic variants in Friedreich's ataxia include late onset, preservation of the lower limbs tendon reflexes, and slow progression. We describe clinical and electrophysiological features from three families with Friedreichlike phenotypes. Friedreich's ataxia diagnosis was confirmed by finding two allelic expansions of the GAA trinucleotide repeat at the X25 gene. In family 1 both patients had a late-onset phenotype with preservation of knee and ankle jerks, lack of cardiomyopathy, and preserved H reflex. One of them did not have electrophysiologic evidence of sensory axonal neuropathy. Patients from family 2 showed variability in the age of onset, and 2 out of 3 affected children had hype…
Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa
1995
Two autosomal dominant retinitis pigmentosa families of different origin were screened for rhodopsin mutations using the method of single strand conformation polymorphism and direct sequencing. We found a CGG-CAG substitution in codon 114 of rhodopsin in both families. This change predicted the replacement of a glycine by an aspartic acid and suggested that this change is the cause of the disease in these families.
Physical Activity in Peri-Urban Communities: Testing Intentional and Implicit Processes within an Ecological Framework.
2019
Background: Given the substantive health inequalities in peri-urban communities and the potential for physical activity to promote health in these communities, identifying modifiable physical activity determinants in this population is important. This study explored effects of the periurban environment and psychological constructs on physical activity intentions and behavioural automaticity guided by an integrated theoretical framework. Methods: Peri-urban Australians (N=271) completed self report measures of environmental (i.e., physical/socialenvironment, and neighbourhood selection), motivational (i.e., autonomous motivation), and social cognition (i.e., attitudes, norms, and perceived b…
Sacral bladder denervation for treatment of detrusor hyperreflexia and autonomic dysreflexia
2001
Objectives. Detrusor hyperreflexia after spinal cord injury may cause urinary incontinence and chronic renal failure. In patients refractory to conservative treatment and not eligible for ventral sacral root stimulation for electrically induced micturition, we investigated the therapeutic value of sacral bladder denervation as a stand-alone procedure. Methods. Nine patients (8 men and 1 woman) between 21 and 58 years old (mean 30.2) with traumatic suprasacral spinal cord lesions underwent sacral bladder denervation for treatment of detrusor hyperreflexia and/or autonomic dysreflexia. Results. Detrusor hyperreflexia and autonomic dysreflexia were eliminated in all cases. Bladder capacity inc…