Intramedullary enterogenous cyst of the conus medullaris presenting as lower limb pain.

Enterogenous cysts account for 0.7-1.3% of spinal axis tumors.

Prevalence of chikungunya in urban field practice area of a private medical college, chennai.

Background: The outbreak of Chikungunya in India started during December 2005 with more than 11,00,000 cases. Many cases with symptoms suggestive of Chikungunya reported to our urban health-training centre. Hence this study was done to estimate the prevalence of Chikungunya, to study the common treatment-seeking behavior, control measures and the sequalae of Chikungunya by follow-up.

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.

Four inborn errors of metabolism (IEMs) are known to cause hypermethioninemia by directly interfering with the methionine cycle. Hypermethioninemia is occasionally discovered incidentally, but it is often disregarded as an unspecific finding, particularly if liver disease is involved. In many individuals the hypermethioninemia resolves without further deterioration, but it can also represent an early sign of a severe, progressive neurodevelopmental disorder.

Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome.

Hyperinsulinism-hyperammonemia syndrome (HI/HA) (OMIM 606762), the second most common form of congenital hyperinsulinism (CHI) is associated with activating missense mutations in the GLUD1 gene, which encodes the mitochondrial matrix enzyme, glutamate dehydrogenase (GDH). Patients present with recurrent symptomatic postprandial hypoglycemia following protein-rich meals (leucine-sensitive hypoglycemia) as well as fasting hypoglycemia accompanied by asymptomatic elevations of plasma ammonia. In contrast to other forms of CHI, the phenotype is reported to be milder thus escaping recognition for the first few months of life.

Giant primary ossified cavernous hemangioma of the skull in an adult: A rare calvarial tumor.

Primary intraosseous cavernous hemangiomas (PICHs) of the cranium are rare benign vascular tumors that account for about 0.2 % of all bone tumors and 10 % of benign skull tumors. They generally present as osteolytic lesions with honeycomb pattern of calcification.

Primary calcified hydatid cyst of the brain.

Cerebral hydatid disease is very rare, and in non-endemic areas like India, the occurrence is as low as 0.2% of all intracranial space occupying lesions. Calcification of the cyst wall indicates an even rarer subvariety, i.

Langerhans' cell histiocytosis involving posterior elements of the dorsal spine: An unusual cause of extradural spinal mass in an adult.

Langerhans cell histiocytosis (LCH) is a clonal proliferation of Langerhans cells occurring as an isolated lesion or as part of a systemic proliferation. It is commoner in children younger than 10 years of age with sparing of the posterior elements in more than 95% of cases. We describe a case of LCH in an adult female presenting with paraplegia.

Caveolin-1 overexpression enhances androgen-dependent growth and proliferation in the mouse prostate.

Prostate cancer (PCa) continues to be one of the leading causes of cancer-related deaths among American men. The prostate relies upon the androgen receptor (AR) to mediate the effects of androgens on normal growth, a reliance that is maintained during malignant prostate growth. Caveolin-1 (Cav-1), the main structural component of caveolae, has been shown to promote the malignant growth and invasion of prostate tumors.

Practical considerations in the evaluation and management of adrenocortical cancer.

Adrenocortical cancer (ACC) is a rare, challenging disease with a broad range of clinical presentations. Often presenting in an advanced stage with a large, locally invasive primary tumor or with Cushing's syndrome, it requires a multidisciplinary approach to treatment. We discuss controversies in the evaluation and management of ACC.

Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients.

Citrin deficiency, aetiologically linked to mutations of SLC25A13 gene, has two clinical phenotypes, namely adult-onset type II citrullinaemia (CTLN2) and neonatal/infantile intrahepatic cholestasis, caused by citrin deficiency (NICCD). Malaysian patients with NICCD, especially of Malay and East Malaysian indigenous descent, have never been reported in the literature. We present the clinical features, biochemical findings and results of molecular analysis in 11 Malaysian children with NICCD.

Automated processing of electronic medical records is a reliable method of determining aspirin use in populations at risk for cardiovascular events.

Background: Low-dose aspirin reduces cardiovascular risk; however, monitoring over-the-counter medication use relies on the time-consuming and costly manual review of medical records. Our objective is to validate natural language processing (NLP) of the electronic medical record (EMR) for extracting medication exposure and contraindication information.

Methods: The text of EMRs for 499 patients with type 2 diabetes was searched using NLP for evidence of aspirin use and its contraindications.

Massive benign osteoblastoma of the suboccipital bone and foramen magnum region.

Benign osteoblastoma is an uncommon primary bone tumor frequently found in the vertebral column and long tubular bones, and rarely occurring in the calvarium. A case of a massive benign osteoblastoma of the suboccipital bone and foramen magnum region in a 9-year-old boy is reported. He presented with progressively worsening nuchal pain and headaches secondary to a bony lesion in the suboccipital and foramen magnum region.

Structures of apo and GTP-bound molybdenum cofactor biosynthesis protein MoaC from Thermus thermophilus HB8.

The first step in the molybdenum cofactor (Moco) biosynthesis pathway involves the conversion of guanosine triphosphate (GTP) to precursor Z by two proteins (MoaA and MoaC). MoaA belongs to the S-adenosylmethionine-dependent radical enzyme superfamily and is believed to generate protein and/or substrate radicals by reductive cleavage of S-adenosylmethionine using an Fe-S cluster. MoaC has been suggested to catalyze the release of pyrophosphate and the formation of the cyclic phosphate of precursor Z.

Mowat-Wilson syndrome: the first two Malaysian cases.

Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, agenesis of corpus callosum and eye defects. Some cases also present with epilepsy, growth retardation with microcephaly and speech impairment. MWS was first described in 1998 by Mowat et al, and approximately 180 cases have been reported as of August 2008.

The 14-item Paediatric Throat Disorders Outcome Test: a valid, sensitive, reliable, parent-reported outcome measure for paediatric throat disorders.

Objectives: We modified and abbreviated a pre-existing research questionnaire, the Tonsil and Adenoid Health Status Instrument, to make it suitable for rapid completion as a disease-specific, health-related quality of life research tool for children with tonsil and adenoid disease in the UK. We determined the main psychometric properties of the resulting 14-item Paediatric Throat Disorders Outcome Test.

Design, Setting And Participants: Pre- and post-operative questionnaires were completed by the parents of children with throat disorders referred to two large hospitals.

Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability.

We describe two neonates presenting with perinatal hypophosphatasia and severe epileptic encephalopathy resulting in death. Both had increased levels of urinary vanillactate, indicating functional deficiency of aromatic amino acid decarboxylase, a pyridoxal-5-phosphate (PLP)-dependent enzyme required for dopamine and serotonin biosynthesis. Clinical findings and results of subsequent metabolic investigations were consistent with secondary pyridoxine-deficient encephalopathy.

Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency.

OTC deficiency, a partially dominant X-linked trait, is the most frequent inborn error of the urea cycle. We describe a female patient with a contiguous gene deletion syndrome encompassing the OTC, DMD, RPGR, CYBB and XK genes, amongst others, only manifesting features of OTC deficiency. Molecular characterization was ascertained by MLPA and confirmed by CGH microarray, which revealed an 8.

Tuberculous temporal brain abscess mimicking otogenic pyogenic abscess.

Tuberculous brain abscess is a rare manifestation of central nervous system tuberculosis. We report the case of a tuberculous temporal lobe abscess in a 14-year-old female child that mimicked an otogenic pyogenic brain abscess. The patient had no prior history of tuberculosis.

Gamma knife radiosurgery in jugular foramen endolymphatic sac adenocarcinoma.

A 41-year-old male presented to us with a history of right-sided temporal headache and ear discharge. MRI revealed an extra-axial space-occupying lesion in the region of the right jugular foramen. The patient was operated upon and a radical excision of the tumor was performed.

Automatic quality of life prediction using electronic medical records.

Health related quality of life (HRQOL) is an important variable used for prognosis and measuring outcomes in clinical studies and for quality improvement. We explore the use of a general pur-pose natural language processing system Metamap in combination with Support Vector Machines (SVM) for predicting patient responses on standardized HRQOL assessment instruments from text of physicians notes. We surveyed 669 patients in the Mayo Clinic diabetes registry using two instruments designed to assess functioning: EuroQoL5D and SF36/SD6.

Targeting the BAF57 SWI/SNF subunit in prostate cancer: a novel platform to control androgen receptor activity.

The androgen receptor (AR) is critical for disseminated prostate cancer proliferation and survival. AR activity is targeted either through prevention of ligand synthesis or through the use of antagonists that bind the COOH-terminal ligand-binding domain. Although initially effective, treatment fails due to restored AR activity in the presence of therapeutics.