Cerebral Palsy

Noonan syndrome is characterised by short stature, typical facial dysmorphology and congenital heart defects. Urogenital abnormalities are reported in 10% of the cases. We present a 14-year-old girl with characteristic features of Noonan syndrome and nephrotic-range proteinuria. She had crossed fused ectopic kidneys. Renal biopsy showed focal segmental glomerulosclerosis. Oral steroids were instituted and she responded well. The case highlights this novel renal presentation of Noonan syndrome.

Congenitally corrected transposition of the great arteries (CCTGA) is a rare and complex congenital anomaly characterized by atrial-ventricular (AV) discordance and ventricular-arterial discordance. Ventricular noncompaction (VNC) is a rare unclassified cardiomyopathy due to the arrest in intrauterine endomyocardial morphogenesis and it is characterized by numerous prominent trabeculations and intratrabecular recesses. We reported the case of a 47-year old female patient. When she was 35-year old an “isolated” CCTGA was diagnosed because of a heart murmur. Since then she attended periodically echocardiograms. She showed us 2 of them where right ventricle apical trabeculation was reported, without any others details. We performed a periodic evaluation in a patient still active, with a 6-month history of mild dyspnea occurring during exertion, no episodes of chest discomfort or palpitation. The ECG showed ectopic atrial rhythm, 83 bpm, normal QRS duration, QS complex in V1-V2 leads. The echocardiogram demonstrated: CCTGA, moderate enlargement and dysfunction of the right systemic ventricle, moderate to severe systemic AV valve regurgitation, severe thinning and dyskinesia of the basal segment of the septum, apical and mid-segments prominent and numerous trabeculations with deep intertrabecular recesses, better showed by Color Doppler, in continuity with the ventricular cavity. This case presents some distinctive features: (1) the association between two rare congenital anomalies; (2) Striking right VNC, involving the apex and mid-segments, rarely described in literature; right VNC has been proposed according to the presence of 3 over 4 criteria proposed by Jenni et al. (Heart 86:666-671, 2001); (3) Severe thinning and dyskinesia of the basal segment of the septum, probably related to coronary artery abnormalities frequently described in CCTGA patients.

An excessive incidence of non-Hodgkin’s lymphoma (NHL) has been reported among farmers and other occupational groups working with pesticides. Some pesticides exhibit immunotoxic and genotoxic activities. Individuals exposed to pesticides have also been found to have an increased prevalence of chromosomal abnormalities including the t(14;18)(q32;q21), one of the most common chromosomal abnormalities in NHL. Two recent epidemiologic studies reported that the association between pesticide exposures and risk of NHL was largely limited to NHL cases with the chromosomal translocation t(14;18). This review summarizes the findings from these epidemiologic studies, speculates on implications, and suggests the research needed to clarify the role of pesticides in NHL.

The authors report a 5.5-year-old male patient with a right paraspinal tumor, diagnosed as metastatic Ewing sarcoma. The pleural fluid along with the bone marrow was sent to the authors’ laboratory for karyotyping. Bone marrow cultures revealed a normal karyotype, whereas 48, XY, i(1)(q11), +10, t(11;22)(q24;q12) karyotype was found in the cells obtained from the pleural fluid cultures. Trisomy 1q is quite frequently observed in Ewing sarcoma patients, mostly as part of unbalanced translocations, along with the common t(11;22) translocation. This patient’s findings were significant, as the complex karyotype in the pleural effusion cells was observed.

Background: Several studies have reported that primary hyperparathyroidism is a risk factor of higher cardiovascular mortality, mainly because hyperparathyroidism is related to arterial hypertension, arrhythmias, structural heart abnormalities and activation of the renin-angiotensin- aldosterone system. However, very few studies have shown the electrocardiographic changes that occur after parathyroidectomy. That was the aim of this study. Methods: We studied 57 consecutive patients with primary hyperparathyroidism surgically treated. Electrocardiogram, serum electrolytes, parathyroid hormone, creatinine and albumin measures were obtained before and after surgery and were compared. Results: The most common basal electrocardiographic abnormalities were left ventricular hypertrophy (LVH, 24.6%), conduction disturbances (16.3%), and short QT and QTc intervals. After surgery, a QTc interval lengthening and a tendency of T wave shortening were observed, as well as an inverse association between QTc interval and serum levels of magnesium and corrected calcium. There were no differences in LVH and conduction disturbances after surgery. Conclusions: Primary hyperparathyroidism is an important factor in the development of electrocardiographic abnormalities in this population, some of which are not corrected after parathyroidectomy. Further studies are required to demonstrate what factors are associated with persistence of electrocardiographic disturbances after surgery.

Cyclophilin D (Cyp D) is implicated in cell death pathway and blockade of Cyp D could be a potent therapeutic strategy for degenerative disorders such as Alzheimer’s disease, ischemia, and multiple sclerosis, but physiological role of Cyp D remains elusive. Here, we investigated the ability of learning and memory in several behavioral tasks in mice that lacked Cyp D (Cyp D(-/-)) and the relationship between ability of learning and memory and hippocampal architecture or neuronal transmission in Cyp D(-/-) mice. Cyp D(-/-) mice showed impairments of short-term memory in the Y-maze, object recognition memory in the novel-object recognition test, reference memory in the water maze test, and associative learning in the conditioned fear learning test. Hippocampal infusion of Cyclosporine A, which binds to Cyp D, replicated the defect in hippocampus-dependent cognition observed in Cyp D(-/-) mice. The Cyp D(-/-) mice did not show histopathological abnormalities upon Nissl staining and GFAP immunostaining or irregular expression of neuronal and glial marker proteins on Western blotting. However, release of glutamate and acetylcholine was decreased from the hippocampus in response to high-potassium treatment in the Cyp D(-/-) mice than in the wild-type mice. These results suggest a physiological role for Cyp D in learning and memory via the regulation of neurotransmission. (c) 2009 Wiley-Liss, Inc.

BACKGROUND: Previous studies showed that mammalian galectin-1 (GAL1) could interact with chitosan or chitin, one component of the peritrophic membrane (PM). This finding suggests that the PM could be a target of GAL1, which prompted the authors to explore the effect of GAL1 on larval growth and its potential mechanism.RESULTS: The development of Plutella xylostella (L.) larvae was significantly disturbed after they were fed recombinant GAL1. The histochemical structure and immunostaining pattern suggested that GAL1 treatment resulted in dose- and time-dependent disruption of the microvilli and abnormalities in these epithelial cells. Ultrastructural studies showed that the PM was not present in the midgut of GAL1-treated insects; instead, numerous bacteria were found in the lumen area. These results indicate that the protective function of the PM was disrupted by GAL1 treatment. Moreover, in vitro data showed that GAL1 interacts with chitosan/chitin in a dose-dependent manner, and also specifically binds to the PM in vitro.CONCLUSION: In view of the fact that the carbohydrate recognition domain of GAL1 recognises the structural motif N-acetyl lactosamine (Gal beta 1-4 GlcNAc), which is similar to that of chitin (beta-1,4 N-acetyl-D-glucosamine), it is proposed that the insecticidal mechanism of GAL1 involves direct binding with chitin to interfere with the structure of the PM. Copyright (c) 2009 Society of Chemical Industry.

AIM: Meningiomas arise from the meningoendothelial cells and are one of the most common tumors of the central nervous system. The HER-2/neu gene is located on the 17q11.2-q12 chromosome region and encodes an epidermal growth factor receptor. HER- 2/neu gene amplification and/or over expression have been studied most widely in breast carcinomas. Previous studies have shown the importance of HER-2/neu gene amplification on the prognosis of meningioma cases. In this study, we aimed to detect HER-2/neu gene copy number in archive materials of 55 meningioma patients by fluorescent in situ hybridization (FISH). MATERIAL and METHODS: The patients included in the study had undergone surgery in the neurosurgery department of our hospital between 1999 and 2002. Tissue samples were classified histologically according to WHO 2007 guidelines. Interphase FISH was performed on 3 to 4mum thick paraffin embedded tissue sections for the detection of HER- 2/neu gene amplification status. RESULTS: We found HER-2/neu gene amplification in 7 (12.73%) patients. Another 2 patients had only one signal for the HER-2/neu region. We confirmed this finding by a second hybridization with the chromosome 17p13.1 (p53) probe. CONCLUSION: According to our results, HER-2/neu amplification could be regarded as an additional genetic factor playing role in meningioma pathogenesis together with known chromosomal abnormalities.

AIM: To investigate the correlation of congenital lumbosacral abnormalities with neurological signs in young patients with low back pain (LBP) MATERIAL and METHODS: The study included 401 patients with LBP that lasted longer than 2 weeks. All cases were screened by standard lumbosacral x-rays for the presence of the most common congenital vertebral abnormalities i.e. spina bifida occulta (SBO) and transitional vertebra (TV). Patients were divided into two groups according to presence of a neurological sign. Patients with a neurological sign were referred for computerized tomography and/or magnetic resonance imaging. RESULTS: Sixty-two patients had a neurological sign. Congenital vertebral abnormalities were detected in 52 patients (12.1%); 34 of these (8.5%) were spina bifida, whereas 18 (4.5%) were transitional vertebra. SBO was most commonly observed at the S1 level (30 patients). No correlation for SBO or TV was determined in patients with and without neurological signs but these groups showed significant difference for disc herniation in CT or MRI (P=0.001). Congenital abnormalities had no correlation with disc herniation in CT or MRI. CONCLUSION: LBP in young adults with TV or SBO showed no correlation with neurological signs. Therefore patients with prolonged LBP that present with neurological signs may be scheduled for CT and/or MRI, but reevaluation of the patient with psychometric tests is recommended if there is no neurological sign.

A22-year-old man with medical history of Hemophilia Awas admitted with a 3- month history of low back pain radiating to the right leg. Neurological examination revealed no abnormalities. Spinal magnetic resonance imaging (MRI) with gadolinium enhancement revealed an intradural extramedullary mass at the level of L1 reported as an intradural tumor. The patient was operated after Factor VIII replacement. Intraoperatively, the lesion was found to be a pure subdural hematoma. The histopathological examination revealed pure chronic hematoma. Postoperatively the patient’s complaints showed improvement and he was discharged with no complications. Although MRI is the gold standard of diagnosis for spinal intradural tumors, some mass lesions remain difficult to diagnose. Spinal chronic subdural hematoma should be considered in the differential diagnosis in these patients, especially in those with coagulopathies, even in the absence of a history of trauma.