8 research outputs found
Hemiballismus, Hyperphagia, and Behavioral Changes following Subthalamic Infarct
The function of subthalamic nucleus (STN) which is a part of the basal ganglia system is not clear, but it is hypothesized that this component might be involved in action selection. Unilateral damage to STN, which can commonly occur due to the small vessel stroke mainly, causes hemiballismus and sometimes hemichorea-hemiballismus. This paper deals with a 60-year-old patient with sudden onset of abnormal movements in his right limbs. He had increased appetite and hyperphagia and also developed mood and behavioral changes (aggressiveness, irritability, anxiety, and sometimes obscene speech). The magnetic resonance imaging revealed infarct area in left subthalamus. In our case, hemiballismus is caused by infarction in left subthalamic area. Occurrence of irritability, anxiety, and some behavioral changes such as aggressiveness and obscene speech can be explained by impairment of STN role in nonmotor behavior and cognitive function as a result of infarct
Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms
A genetic predisposition for thoracic aortic aneurysms and dissections (TAAD) can be inherited in an autosomal dominant manner with decreased penetrance and variable expression. Four genes identified to date for familial TAAD account for approximately 20% of the heritable predisposition. In a cohort of 514 families with two or more members with presumed autosomal dominant TAAD, 48 (9.3%) families have one or more members who were at 50% risk to inherit the presumptive gene causing TAAD had an intracranial vascular event. In these families, gender is significantly associated with disease presentation ( P < 0.001), with intracranial events being more common in women (65.4%) while TAAD events occurred more in men (64.2%,). Twenty‐nine of these families had intracranial aneurysms (ICA) that could not be designated as saccular or fusiform due to incomplete data. TGFBR1 , TGFBR2 , and ACTA2 mutations were found in 4 families with TAAD and predominantly fusiform ICAs. In 15 families, of which 14 tested negative for 3 known TAAD genes, 17 family members who were at risk for inheriting TAAD had saccular ICAs. In 2 families, women who harbored the genetic mutation causing TAAD had ICAs. In 2 additional families, intracranial, thoracic and abdominal aortic aneurysms were observed. This study documents the autosomal dominant inheritance of TAADs with saccular ICAs, a previously recognized association that has not been adequately characterized as heritable. In these families, routine cerebral and aortic imaging for at risk members could prevent cerebral hemorrhages and aortic dissections. © 2011 Wiley‐Liss, Inc.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/87019/1/34050_ftp.pd
Gender associated risk factors of aortic aneurysms and dissections
Objectives. Predict who will develop a dissection. To create male and female prediction models using the risk factors: age, ethnicity, hypertension, high cholesterol, smoking, alcohol use, diabetes, heart attack, congestive heart failure, congenital and non-congenital heart disease, Marfan syndrome, and bicuspid aortic valve. Methods. Using 572 patients diagnosed with aortic aneurysms, a model was developed for each of males and females using 80% of the data and then verified using the remaining 20% of the data. Results. The male model predicted the probability of a male in having a dissection (p=0.076) and the female model predicted the probability of a female in having a dissection (p=0.054). The validation models did not support the choice of the developmental models. Conclusions. The best models obtained suggested that those who are at a greater risk of having a dissection are males with non-congenital heart disease and who drink alcohol, and females with non-congenital heart disease and bicuspid aortic valve
Tracheal sound analysis for automatic detection of respiratory depression in adult patients during cataract surgery under sedation
Background: Tracheal sound analysis is a simple way to study the abnormalities of upper airway like airway obstruction. Hence, it may be an effective method for detection of alveolar hypoventilation and respiratory depression. This study was designed to investigate the importance of tracheal sound analysis to detect respiratory depression during cataract surgery under sedation. Methods: After Institutional Ethical Committee approval and informed patients' consent, we studied thirty adults American Society of Anesthesiologists I and II patients scheduled for cataract surgery under sedation anesthesia. Recording of tracheal sounds started 1 min before administration of sedative drugs using a microphone. Recorded sounds were examined by the anesthesiologist to detect periods of respiratory depression longer than 10 s. Then, tracheal sound signals converted to spectrogram images, and image processing was done to detect respiratory depression. Finally, depression periods detected from tracheal sound analysis were compared to the depression periods detected by the anesthesiologist. Results: We extracted five features from spectrogram images of tracheal sounds for the detection of respiratory depression. Then, decision tree and support vector machine (SVM) with Radial Basis Function (RBF) kernel were used to classify the data using these features, where the designed decision tree outperforms the SVM with a sensitivity of 89% and specificity of 97%. Conclusions: The results of this study show that morphological processing of spectrogram images of tracheal sound signals from a microphone placed over suprasternal notch may reliably provide an early warning of respiratory depression and the onset of airway obstruction in patients under sedation
Linkage of Multiple Sclerosis and Guillain-Barre Syndrome: A Population-Based Survey in Isfahan, Iran
Background. Multiple Sclerosis (MS) and Guillain Barre Syndrome (GBS) are autoimmune demyelinating disorders of Central and Peripheral Nervous system, respectively. The coexistence of these two syndromes in an individual's life span is rare. Objectives. To inspect throughout Isfahan MS society (IMSS) records for MS cases who had history of documented GBS whether before the onset of MS or after it. Methods. This retrospective survey was carried out by analyzing the clinical records of 3,522 MS patients who were registered with IMSS, from April 2003 to July 2010. Eligible cases were requested to attend to IMSS for final clinical/paraclinical examinations. Results. Among 3,522 (2,716 women and 806 men) MS subjects, we could identify seven patients (six females and one male) with documented diagnosis of GBS. Six patients (five women and one man) had developed MS within 6.5±7.0 (range: 1–16) years after being diagnosed with GBS and one (a woman) had developed GBS three years after the diagnosis of MS. Conclusion. It seems that the development of MS in individuals with history of GBS is more than a simple incidental event
Rare Copy Number Variants Disrupt Genes Regulating Vascular Smooth Muscle Cell Adhesion and Contractility in Sporadic Thoracic Aortic Aneurysms and Dissections
Rare Copy Number Variants Disrupt Genes Regulating Vascular Smooth Muscle Cell Adhesion and Contractility in Sporadic Thoracic Aortic Aneurysms and Dissections
Thoracic aortic aneurysms and dissections (TAAD) cause significant morbidity and mortality, but the genetic origins of TAAD remain largely unknown. In a genome-wide analysis of 418 sporadic TAAD cases, we identified 47 copy number variant (CNV) regions that were enriched in or unique to TAAD patients compared to population controls. Gene ontology, expression profiling, and network analysis showed that genes within TAAD CNVs regulate smooth muscle cell adhesion or contractility and interact with the smooth muscle-specific isoforms of α-actin and β-myosin, which are known to cause familial TAAD when altered. Enrichment of these gene functions in rare CNVs was replicated in independent cohorts with sporadic TAAD (STAAD, n = 387) and inherited TAAD (FTAAD, n = 88). The overall prevalence of rare CNVs (23%) was significantly increased in FTAAD compared with STAAD patients (Fisher's exact test, p = 0.03). Our findings suggest that rare CNVs disrupting smooth muscle adhesion or contraction contribute to both sporadic and familial disease