Cerebral Palsy

Left ventricular outflow tract obstruction (LVOTO) is one of the defining features of hypertrophic cardiomyopathy (HCM) and one of the main determinants of prognosis. Although the importance of obstruction was recognized since the original description by Teare and Brock, its exact cause and methods for its relief are still being hotly debated. We believe that a rational approach to solving these issues depends on thorough understanding of the specific structure and functions of the left ventricular outflow tract (LVOT) in health and disease. There is now compelling evidence that the LVOT performs a series of vital sophisticated functions which are mediated by the design characteristics, structure, and biological properties of its component parts and that dysregulation of one or more of these functions results in obstruction and other abnormalities. We here review the integrated functions of the LVOT, its structural and functional relationships, with particular reference to its component parts (the major players) and their role in HCM. This knowledge is essential to evolve tailored restorative techniques for treating HCM.

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy with substantial heterogeneity in phenotypic expression and clinical course. Traditionally, two-dimensional echocardiography has been the easiest and most reliable technique for establishing a diagnosis of HCM. However, cardiovascular magnetic resonance (CMR) has emerged as a novel, three-dimensional tomographic imaging technique, which provides high spatial and temporal resolution images of the heart in any plane and without ionizing radiation. As a result, CMR is particularly well suited to provide detailed characterization of the HCM phenotype, including precise assessment of the location and distribution of left ventricular (LV) wall thickening. In this regard, CMR can identify hypertrophy (particularly in the anterolateral free wall and apex), not well appreciated (or underestimated) by two-dimensional echocardiography, with important implications for diagnosis. CMR can also provide detailed characterization of other myocardial structures such as the papillary muscles, which may impact on preoperative management strategies for patients who are candidates for surgical myectomy. Furthermore, CMR enables an accurate assessment of total LV mass, a robust marker of the overall extent of hypertrophy, which may have implications for risk stratification. In addition, a subgroup of HCM patients have normal LV mass (with focal hypertrophy), suggesting that a limited extent of hypertrophy is consistent with a diagnosis of HCM. Finally, following the intravenous administration of gadolinium, first-pass perfusion sequences can identify myocardial perfusion abnormalities, while late gadolinium enhancement (LGE) sequences can characterize areas of myocardial fibrosis/scarring. LGE is associated with systolic dysfunction and likelihood for ventricular tachyarrhythmias on ambulatory Holter monitoring in patients with HCM. However, the precise clinical implications of myocardial perfusion abnormalities and LGE in HCM are still uncertain; this information may have important implications with regard to identifying HCM patients at risk of sudden death and adverse LV remodeling associated with systolic dysfunction. Therefore, at present, CMR provides important information impacting on diagnosis and clinical management strategies in patients with HCM and will likely have an expanding role in the evaluation of patients with this complex disease.

Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease, characterized by complex pathophysiology, heterogeneous morphology, and variable clinical manifestations over time. Besides cardiac hypertrophy, the HCM phenotype is characterized by a host of manifestations, including mitral valve and subvalvar abnormalities, subaortic and mid-ventricular left ventricular (LV) obstruction, microvascular dysfunction, myocardial fibrosis, disarray, atrial remodeling, myocardial bridging of epicardial coronary arteries, LV apical aneurysms, and autonomic nervous system abnormalities. Such heterogeneous phenotype still lacks a comprehensive explanation, which cannot be accounted solely by genetic heterogeneity, despite the large number of genes and mutations involved. It is likely that pre-natal and acquired features deriving from the primary genetic defect interact with the environment to produce the final result evident in each patient. Based on novel insights provided by cardiac developmental biology, a common lineage ancestry of several HCM manifestations might be traced back to the pluripotent epicardium-derived cells, which early during heart development differentiate into interstitial fibroblasts, coronary smooth muscle cells, and atrio-ventricular endocardial cushions as mesenchymal cells. To date, the different faces of HCM have not been sufficiently liked or explained. We here attempt to address these issues by describing the various components of the disease, their origin, interaction, and clinical significance.

Salt-induced growth reduction of plants is a well-known phenomenon which poses major problem in crop productivity in places where vast majority of land plants are affected by salt. In this report, studies were carried out to reveal the effect of salt injury on the cell division pattern in roots and the role of myo-inositol in preventing the salt-induced ion disequilibrium on the chromosome and DNA degradation in roots. Present study revealed induction of various chromosomal abnormalities on the root tip mitotic cells of Allium cepa by treatment with different concentrations of NaCl (0-500 mM) for 24 h as also the amelioration of such effect by prior treatment of the roots with different concentration of myo-inositol (0-300 mM). Results showed that a narrow albeit definite range of extracellular myo-inositol (100-150 mM) is effective in preventing internucleosomal fragmentation which is the early response in roots under salt stress. Transgenic tobacco plants overexpressing Oryza (OsINO1) as well as Porteresia (PcINO1) cytosolic L: -myo-inositol-1-phosphate synthase coding genes can withstand and retain their chromosomal and DNA integrity in 100 mM NaCl solution and can subsequently prevent DNA fragmentation, caused by intracellular endonuclease activity at this salt concentration.

Cerebral aneurysms and arteropathies causing severe cerebrovascular events have been reported as rare complications in patients with late-onset Pompe disease. We investigated the frequency of cerebrovascular anomalies in six patients with late-onset Pompe disease followed at our institution. Clinical data collection and magnetic resonance angiography were performed as part of routine annual examinations. Four out of six patients had brain vascular anomalies including dolichoectasia of the basilar artery and ectasia of internal carotids. These patients also complained of gastrointestinal symptoms (chronic constipation and gastrointestinal reflux). Two patients had clinical signs related to the arteriopathy, including partial paralysis of the third cranial nerve and transient ischemic attacks. At 1 year follow-up, enzyme replacement therapy did not modify the size of cerebral vessels, but patients reported a marked improvement of intestinal symptoms. In conclusion, neurologists should be aware that intracranial artery abnormalities are not infrequent in patients with late-onset Pompe disease, and they should be specifically investigated in the presence of unexplained CNS symptoms.

OBJECTIVE: To assess the relationship of morphologically defined lumbar disc abnormalities with quantitative T2 mapping. METHODS: Fifty-three patients, mean age 39 years, with low back pain were examined by MRI at 3 T (sagittal T1-fast spin echo (FSE), three-plane T2-FSE for morphological MRI, multi-echo spin echo for T2 mapping). All discs were classified morphologically. Regions of interest (ROIs) for the annulus were drawn. The space in between was defined as the nucleus pulposus (NP). To evaluate differences between the classified groups, univariate ANOVA with post hoc Games-Howell and paired two-tailed t tests were used. RESULTS: In 265 discs we found 39 focal herniations, 10 annular tears, 123 bulging discs and 103 "normal discs". T2 values of the NP between discs with annular tear and all other groups were statistically significantly different (all p </= 0.01). Discs with annular tears showed markedly lower NP T2 values than discs without. The difference in NP T2 values between discs with focal herniation and normal discs (p = 0.005) was statistically significant. There was no difference in NP T2 values between bulging and herniated discs (p = 0.11) CONCLUSION: Quantitative T2 mapping of the nucleus pulposus of the intervertebral disc in the lumbar spine at 3 T reveals significant differences in discs with herniation and annular tears compared with discs without these abnormalities.

BACKGROUND: Outbreaks of orally transmitted Trypanosoma cruzi continue to be reported in Brazil and are associated with a high mortality rate, mainly due to myocarditis. METHODS: This study is a detailed report on the disease progression of acute Chagas disease in 13 patients who were infected during two micro-outbreaks in two northeastern Brazilian towns. Clinical outcomes as well as EKG and ECHO results are described, both before and after benznidazole treatment. RESULTS: Fever and dyspnea were the most frequent symptoms observed. Other clinical findings included myalgia, periorbital edema, headache and systolic murmur. Two patients died of cardiac failure before receiving benznidazole treatment. EKG and ECHO findings frequently showed a disturbance in ventricular repolarization and pericardial effusion. Ventricular dysfunction (ejection fraction <55%) was present in 27.3% of patients. After treatment, EKG readings normalized in 91.7% of patients. Ventricular repolarization abnormalities persisted in 50% of the patients, while sinus bradycardia was observed in 18%. The systolic ejection fraction normalized in two out of three patients with initially depressed ventricular function, while pericardial effusion disappeared. CONCLUSIONS: Myocarditis is frequently found and potentially severe in patients with acute Chagas disease. Benznidazole treatment may improve clinical symptoms, as well as EKG and ECHO findings.

Turner’s syndrome is a genetic disorder of the sex chromosomes (e.g., 45,X or 45,X/46,XX) that manifests as various congenital anomalies. Despite its numerous extragonadal manifestations and frequent accompanying abnormalities in liver function tests, liver cirrhosis associated with Turner’s syndrome has not been reported in Korea. Moreover, pulmonary arteriovenous malformations (PAVMs) have rarely been reported in association with liver cirrhosis, but there have been no reports of PAVMs occurring in cryptogenic liver cirrhosis associated with Turner’s syndrome. We report a case of PAVM that occurred in cryptogenic liver cirrhosis associated with Turner’s syndrome.

OBJECTIVE: We present our management of a unique case of complex arteriovenous shunt with vascular steal in the left-sided head and neck vessels in a child with CHARGE (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness) syndrome. CLINICAL PRESENTATION: A 10-year-old girl presented with high-output heart failure. Cerebral angiography revealed high-flow abnormal fistulous connections between the left common carotid artery and innominate vein as well as between the vertebral artery and innominate vein. There was significant collateral blood flow to the fistulae from the left external carotid artery and left thyrocervical and costocervical trunks. INTERVENTION: The left vertebral artery-to-innominate vein fistula was occluded by endovascular means during temporary balloon occlusion. The left common carotid artery-to-innominate vein fistula was occluded through neck dissection with surgical clipping. CONCLUSION: Combined neurosurgical and endovascular techniques were used successfully to manage a complex arteriovenous fistula in a patient with CHARGE syndrome. Challenges in therapeutic decision making are discussed.

Sensitivity to strong odors has a broad differential diagnosis. A presentation is made of a 60-year-old man with lifelong mild allergic rhinitis and a superimposed 4-year history of sensitivity to smells. He had no response to medical treatments or allergic immunotherapy. His physical examination was unremarkable. After obtaining a detailed history, a definitive imaging study was performed and the patient underwent corrective treatment for his potentially life-threatening disorder. A detailed differential and strong clinical history is sometimes required to uncover the etiology of non-allergic rhinitis. Overwhelming sensations of strong odors may be a sign of a more serious condition and require investigation. This presentation discusses the differential diagnosis and suggested evaluation for patients with abnormalities in olfaction. Copyright © 2010 S. Karger AG, Basel.