Cerebral Palsy

OBJECTIVE: To identify and define the imaging characteristics of children with auditory neuropathy spectrum disorder (ANSD). DESIGN: Retrospective medical records review and analysis of both temporal bone computed tomographic (CT) and magnetic resonance images (MRI) in children with a diagnosis of ANSD. SETTING: Tertiary referral center. Patients: One hundred eighteen children with the electrophysiologic characteristics of ANSD with available imaging studies for review. INTERVENTIONS: Two neuroradiologists and a neurotologist reviewed each study, and consensus descriptions were established. MAIN OUTCOME MEASURES: The type and number of imaging findings were tabulated. Results: Sixty-eight (64%) MRIs revealed at least 1 imaging abnormality, whereas selective use of CT identified 23 (55%) with anomalies. The most prevalent MRI findings included cochlear nerve deficiency (n = 51; 28% of 183 nerves), brain abnormalities (n = 42; 40% of 106 brains), and prominent temporal horns (n = 33, 16% of 212 temporal lobes). The most prevalent CT finding from selective use of CT was cochlear dysplasia (n = 13; 31%). CONCLUSION: Magnetic resonance imaging will identify many abnormalities in children with ANSD that are not readily discernable on CT. Specifically, both developmental and acquired abnormalities of the brain, posterior cranial fossa, and cochlear nerves are not uncommonly seen in this patient population. Inner ear anomalies are well delineated using either imaging modality. Because many of the central nervous system findings identified in this study using MRI can alter the treatment and prognosis for these children, we think that MRI should be the initial imaging study of choice for children with ANSD.

The elucidation of mechanisms and pathogenesis of birth defects is exceedingly complex. Consequently, there are few examples where the etiology of birth defects caused by a specific agent has been well described. One such example is the “Edema Syndrome” first described by Casimer Grabowski in the 1960s as a mechanism of hypoxia-induced malformations in the chick embryo. The Edema Syndrome comprised a series of events in the embryo starting with osmotic imbalances followed by edema, distention, blisters, hematomas, and hemorrhage in or near developing structures. Malformation or deformation of structures resulted from mechanical disruption or loss of blood supply. A similar etiology has since been described by others in a variety of laboratory mammals following treatment with drugs including epinephrine, hydroxyurea, cocaine, phenytoin, and potassium channel-blocking drugs. Free radical excess following transient hypoxia may be a common factor in all of these insults. Vascular disruption is also associated with a number of birth defects in humans, including limb and digit reduction defects and urogenital defects. Birth Defects Res (Part B) XX:1-4, 2010. Published 2010 Wiley-Liss, Inc.

Ror1 is a member of the Ror-family receptor tyrosine kinases. Ror1 is broadly expressed in various tissues and organs during mouse embryonic development. However, so far little is known about its function. The closely related family member Ror2 was shown to play a crucial role in skeletogenesis and has been shown to act as a co-receptor for Wnt5a mediating non-canonical Wnt-signaling. Previously, it has been shown that during embryonic development Ror1 acts in part redundantly with Ror2 in the skeletal and cardiovascular systems. In this study, we report that loss of the orphan receptor Ror1 results in a variety of phenotypic defects within the skeletal and urogenital systems and that Ror1 mutant mice display a postnatal growth retardation phenotype. Developmental Dynamics, 2010. (c) 2010 Wiley-Liss, Inc.

INTRODUCTION AND HYPOTHESIS: This study aims to assess the role of the introital ultrasound in the evaluation of patients with low urinary tract symptoms after sling surgery for incontinence. METHODS: From 2000 till 2007, a total of 31 patients underwent sub-urethral tape placement for stress urinary incontinence and developed thereafter lower urinary tract symptoms. The urological evaluation consisted of a detailed medical history, a urogynecologic examination, a complete urodynamic exam, a measurement of the post-void residue, and an introital ultrasound. All patients filled up the MHU (Mesure du Handicap Urinaire) questionnaire. These patients had a transvaginal tape lysis under local anesthesia. We correlated the ultrasound findings with postoperative clinical success and failure. RESULTS: Thirty-one patients with low urinary tract symptoms (LUTS) secondary to sling placement underwent a tape lysis. Median age was 63.1 +/- 10.9 years, and the median time between the anti-incontinence surgery and the tape lysis was 21.5 +/- 16.2 months. Seven patients had only obstructive symptoms, 15 patients had obstructive and overactive bladder symptoms, and nine patients had overactive bladder symptoms. Introital ultrasound revealed an abnormality of the tape in 26 patients. Ten patients had a position abnormality, five patients had a urethral distortion by the tape, and 11 patients had the previous two abnormalities. After tape lysis, the obstructive symptoms disappeared in 19 out of 22 patients (86%), and the overactive bladder symptoms disappeared in 16 out of 24 patients (66%). In case of ultrasound anomaly, the tape lysis was efficient in 23 out of 26 patients (89%), while in the absence of ultrasound anomaly (five patients) the tape lysis was not useful in treating LUTS in all patients. CONCLUSION: Ultrasonography is a useful tool in investigating postoperative lower urinary tract symptoms and in the selection of patients who will benefit from tape lysis.

Introduction: The clinical presentation of ischaemic reperfusion in postoperative patients correlates with oxidative stress. The limited clinical success of anti-ischaemic reperfusion agents has prompted a comparison of the efficacy of N-acetylcysteine (NAC) and magnesium (Mg) in South Indian patients undergoing coronary artery bypass grafting (CABG). Methods: In Clinical Trial I, 52 South Indian patients who had undergone CABG surgery (with intraoperative Mg supplementation) and 40 controls (without Mg supplementation) were selected and matched. The control patients underwent the same protocol without Mg. In Clinical Trial II, the study population consisted of 50 patients, where 25 patients received NAC just before the release of the aortic cross clamp. In the NAC untreated group, dextrose solution was administered at the same time as the placebo. Six blood samples were taken at different times during the cardiac surgery and the antioxidant enzymes, ATPase and cardiac markers from the coronary sinus blood samples were analysed. Results: Increased blood lipid peroxidation was observed in patients who were not treated with Mg/NAC. The administration of Mg/NAC just before the release of the aortic cross clamp reduced the lipid peroxidation significantly (p-value is less than 0.05). The above observations were supported by the antioxidant enzyme levels. Significant improvements to the erythrocyte ATPase and cardiac markers in patients treated with Mg/NAC correlated with a reduction in postoperative abnormalities. Based on the biochemical status of the patients, Mg was shown to mediate better recovery from postoperative changes. Conclusion: NAC and Mg decreased pump-induced oxidative stress during cardiopulmonary bypass (CPB), suggesting that it could be a novel therapy for assisting in the prevention of CPB-induced oxidative stress.

BACKGROUND AND AIMS. Capsule endoscopy is applicable to several clinical conditions, but obscure gastrointestinal bleeding remains the main indication. This study aims at determining the diagnostic yield of capsule endoscopy for obscure gastrointestinal bleeding using a structured terminology in a large cohort in an academic hospital. METHODS. In this retrospective study, 592 capsule endoscopy procedures performed in a tertiary hospital were analysed using the Capsule Endoscopy Structural Terminology. Main indications were gastrointestinal bleeding (n=142) and iron deficiency anaemia (n=240). RESULTS. Capsule endoscopy identified abnormalities in 44% of patients with iron deficiency anaemia and in 58% of patients with gastrointestinal bleeding, resulting in a diagnostic yield of 49% for obscure gastrointestinal bleeding. In 32 patients the cause was found in the stomach and in 8 in the colon. CONCLUSION. Capsule endoscopy evidenced a diagnostic yield of 49% for obscure gastrointestinal bleeding. Repeating endoscopy before capsule endoscopy should be considered since a reasonable proportion of lesions were found outside the small intestine.

Transient left ventricular dysfunction syndrome (TLVDS), or Tako-Tsubo cardiomyopathy (TC), is a clinical entity in which patients present with features of acute coronary syndrome, electrocardiogram abnormalities, and transient left ventricular (apical or mid-ventricular) dysfunction. Patients usually recover from this condition four to six weeks after the event. The etiology or triggering factors of TC remains unknown. Various triggering factors have been associated with this syndrome, with one of the most recent being malignancies. In this case report we present a postmenopausal female with underlying advanced malignancy who presented with TC. This is consistent with a recent hypothesis that in addition to currently known triggering factors, malignancies might well trigger TC in the context of a stressor or paraneoplastic phenomenon.

BACKGROUND: Hybrid speciation is classified into homoploid and polyploid based on ploidy level. Common wheat is an allohexaploid species that originated from a naturally occurring interploidy cross between tetraploid wheat and diploid wild wheat Aegilops tauschii Coss. Aegilops tauschii provides wide naturally occurring genetic variation. Sometimes its triploid hybrids with tetraploid wheat show the following four types of hybrid growth abnormalities: types II and III hybrid necrosis, hybrid chlorosis, and severe growth abortion. The growth abnormalities in the triploid hybrids could act as postzygotic hybridization barriers to prevent formation of hexaploid wheat. METHODOLOGY/PRINCIPAL FINDINGS: Here, we report on the geographical and phylogenetic distribution of Ae. tauschii accessions inducing the hybrid growth abnormalities and showed that they are widely distributed across growth habitats in Ae. tauschii. Molecular and cytological characterization of the type III necrosis phenotype was performed. The hybrid abnormality causing accessions were widely distributed across growth habitats in Ae. tauschii. Transcriptome analysis showed that a number of defense-related genes such as pathogenesis-related genes were highly up-regulated in the type III necrosis lines. Transmission electron microscope observation revealed that cell death occurred accompanied by generation of reactive oxygen species in leaves undergoing type III necrosis. The reduction of photosynthetic activity occurred prior to the appearance of necrotic symptoms on the leaves exhibiting hybrid necrosis. CONCLUSIONS/SIGNIFICANCE: Taking these results together strongly suggests that an autoimmune response might be triggered by intergenomic incompatibility between the tetraploid wheat and Ae. tauschii genomes in type III necrosis, and that genetically programmed cell death could be regarded as a hypersensitive response-like cell death similar to that observed in Arabidopsis intraspecific and Nicotiana interspecific hybrids. Only Ae. tauschii accessions without such inhibiting factors could be candidates for the D-genome donor for the present hexaploid wheat.

A 45-year old man was diagnosed with desmoplastic small round cell tumor (DSRCT) with involvement of the peritoneum and pelvis. Disease progression was observed despite systemic chemotherapy. Six months after diagnosis, he developed severe hypoglycemia presented with seizures. He received intravenous glucose infusion and hydrocortisone with poor glycemic control, but with seizures resolution. The investigation excluded insulinoma, adrenal, liver and GH deficiencies. Laboratory showed slight rise of IGF-II and significant increase of the ratio IGF-II : IGF-I, which is pathognomonic of non-islet cell tumor hypoglycemia (NICTH). He received the diagnoses of NICTH related to IGF-II inappropriate production by DSRCT. Despite the attempt to control tumor mass and hypoglycemia, the patient died 9 months after diagnosis. NICTH related to inappropriate IGF-II secretion should be investigated in all cancer patients with refractory hypoglycemia whom insulinoma and other metabolic abnormalities were excluded from.

OBJECTIVE: To describe detailed clinical and radiological features of the pandemic H1N1 2009 influenza viral infection among healthy young males in a semi-closed institutionalized setting. MATERIALS AND METHODS: A total of 18 patients confirmed with the pandemic H1N1 2009 influenza virus infection from July 18 to July 30, 2009 were enrolled in this study. Each patient underwent an evaluation to determine detailed clinical and radiological features. RESULTS: All patients presented with high fever (> 38.0), with accompanying symptoms of cough, rhinorrhea, sore throat, myalgia and diarrhea, and increased C-reactive protein (CRP) values with no leukocytosis nor elevated erythrocyte sedimentation rate (ESR). All patients, including one patient who progressed into acute respiratory distress syndrome, were treated with oseltamivir phosphate and quickly recovered from their symptoms. Chest radiographs showed abnormalities of small nodules and lobar consolidation in only two out of 18 patients. However, six of 12 patients who underwent thin-section CT examinations showed abnormal findings for small ground-glass opacities (GGOs) in addition to poorly-defined nodules with upper lobe predominance. CONCLUSION: In a population of healthy young adults, elevated CRP with normal ESR and white blood cell levels combined with GGOs and nodules on thin-section CT scans may indicate early signs of infection by the pandemic H1N1 2009 influenza virus.