SHORT syndrome.

We describe a mother and her son with short stature, progeroid facies, Rieger anomaly, teething delay, and mild developmental retardation, particularly speech delay, which are characteristic features of the SHORT syndrome. An additional sign of all described patients is the slight build with lack of subcutaneous fat. Resistance to insulin was suggested by an oral glucose tolerance test in the mother, whereas the test was normal in the index patient at the age of 2 years 2 months.

Selective middle cerebral artery Wada tests as a part of presurgical evaluation in patients with drug-resistant epilepsies.

Purpose: To analyze the role of selective middle cerebral artery (MCA) Wada tests in the presurgical workup of patients with drug-resistant focal epilepsies.

Methods: Twenty MCA Wada test procedures were performed to identify eloquent cortex (a) in nine patients with hemispheric lesions involving the motor cortex (connatal MCA infarct, n = 5; unilateral cortical dysplasia, n = 3; Rasmussen encephalitis, n = 1), (b) five patients with circumscribed neoplastic or nonneoplastic lesions adjacent to the motor cortex or classic language areas, and (c) for purely electrophysiologic reasons, in two patients with electrical status epilepticus in sleep (ESES). Sodium amobarbital and [99mTc]-HMPAO were simultaneously injected via a microcatheter into the distal M1 segment (n = 7), the inferior MCA trunk (n = 3), or into MCA branches (n = 10).

[Brace effect in scoliosis in the sagittal plane - an MRI study].

Aim: Using magnetic resonance (MR) imaging we studied the brace effect in scoliosis in the sagittal plane.

Method: In 38 patients with idiopathic scoliosis (mean age 13.4 years) MR total spine imaging was carried out to investigate the immediate effect of bracing in the sagittal plane.

[Butterfly vertebrae and scoliosis: Alagille syndrome].

Introduction: Alagille syndrome is a dominantly inherited disorder affecting the liver (arteriohepatic dysplasia), the heart, the eyes and the face. Butterfly vertebrae in the thoracic and lumbar spine are detectable in 50 to 80 per cent of the patients; most of them remain asymptomatic. The management of progressive cholestasis in early childhood is the main aspect of therapy.

[Calculation of 3-D deformity in scoliosis by MRI of the total spine in two perpendicular reconstructed planes].

Aim: Scoliosis is a spinal deformity that is more complex and does not exist in one plane only. There have been many attempts to analyse three-dimensional spinal deformity, however, these procedures necessitate higher radiation doses.

Method: In this study we define angles according to the Cobb Definition.

A New York isolate of Soil-borne wheat mosaic virus differs considerably from the Nebraska type strain in the nucleotide sequences of various coding regions but not in the deduced amino acid sequences.

A wheat-infecting furovirus found in Tompkins County, New York, U.S.A.

tRNA is the source of low-level trans-zeatin production in Methylobacterium spp.

Pink-pigmented facultatively methylotrophic bacteria (PPFMs), classified as Methylobacterium spp., are persistent colonizers of plant leaf surfaces. Reports of PPFM-plant dialogue led us to examine cytokinin production by PPFMs.

Spectrum of the acrocallosal syndrome.

Acrocallosal syndrome (ACS) is an autosomal recessive condition, characterized by agenesis of the corpus callosum, pre- and postaxial polydactyly, minor craniofacial anomalies, and, in most patients, severe psychomotor retardation. We here report on three patients with ACS demonstrating a spectrum from mild to severe involvement. Two patients had only mild to moderate mental retardation at the age of 2(1/2) and 4 years, respectively, with surprisingly good speech development.

A de novo deletion of chromosome 5q causing familial adenomatous polyposis, dysmorphic features, and mild mental retardation.

Familial adenomatous polyposis (FAP) is an autosomal dominant disorder that typically presents with colorectal cancer secondary to extensive adenomatous polyps of the colon. The molecular basis and clinical phenotype of FAP are well known. Recurrent episodes of severe abdominal pain and a positive fecal occult blood test in an 18-yr-old boy with mild mental retardation and slight dysmorphic features of the face, head, and skeletal system led to the diagnosis of FAP.

[Sagittal Cobb-angle measurements in scoliosis with MRI whole spine imaging].

Aim: A newly developed MR procedure allows imaging of the whole spine in coronal and sagittal planes. We studied the use of total spine MR imaging in measuring sagittal Cobb angles in scoliosis.

Method: 64 patents with idiopathic scoliosis (mean age 18.

A new method of MR total spine imaging for showing the brace effect in scoliosis.

Bracing is a method of early, nonsurgical treatment for scoliosis, but a hypokyphotic effect on the thoracic spine is reported. We developed a magnetic resonance tomography (MR) procedure presenting an image of the whole spine in the coronal and sagittal planes (MR total spine imaging), and studied the brace effect, using this technique. We examined 26 female patients with idiopathic scoliosis treated with a Cheneau brace (mean age, 13.