Angelman syndrome (AS) is an imprinted neurobehavioral disorder characterized by mental retardation, absent speech, excessive laughter, seizures, ataxia, and a characteristic EEG pattern. Classical lesions, including deletion, paternal disomy, or epigenetic mutation, are confirmatory of AS diagnoses in 80% of cases. Loss-of-function mutations of the UBE3A gene have been identified in approximat...

BACKGROUND The spinocerebellar ataxias (SCAs) are clinically heterogeneous disorders caused by triplet repeat expansions in the sequence of specific disease genes. Spinocerebellar ataxia type 8 (SCA8), originally described in a family characterized by pure cerebellar ataxia with slow disease progression, presents with expansion of combined CTA/CTG repeats. OBJECTIVE To perform SCA8 repeat exp...

A matched case-control study was conducted by the Children's Cancer Study Group to investigate the role of parental occupation in the etiology of sporadic heritable and nonheritable retinoblastoma. Eligible cases were those patients with retinoblastoma diagnosed in 1982-1985 at any of the Children's Cancer Study Group member hospitals. Telephone interviews of 201 parents of cases and their pair...

PURPOSE Promoter hypermethylation occurs frequently in tumors and leads to silencing of tumor-relevant genes like tumor suppressor genes. In a subset of sporadic colorectal cancers (CRC), inactivation of the mismatch repair gene MLH1 due to promoter methylation causes high level of microsatellite instability (MSI-H). MSI-H is also a hallmark of hereditary nonpolyposis colorectal cancer (HNPCC) ...

human fasciolosis is deemed as an emerging/re-emerging infection, hence making it an important human parasitic disease. in contrast to northern parts of iran, human cases of fasciolosis in southern iran are rare and sporadic. we report a sporadic case of fasciolosis in southern iran (fars province) who presented with prolonged fever. our report could suggest that there might be new foci emergin...

OBJECTIVES The study aimed to investigate the effects of a combined functional and aerobic exercise program on aerobic capacity, muscle strength, and functional mobility in a group of patients with sporadic inclusion body myositis (IBM). METHODS Aerobic capacity, muscle strength, and functional capacity assessments were conducted on 7 participants with sporadic IBM before and after a 12-week ...

The talk at the I.C.C.M. was an introduction to moonshine. As there are already several survey articles on what is known about moonshine ([B94], [B99], [D-M94], [DM96], [F-H98], [J]), this paper differs from the talk and will concentrate mainly on what we do not know about it. Moonshine is not a well defined term, but everyone in the area recognizes it when they see it. Roughly speaking, it mea...