Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome?

We report a full-term male infant born to nonconsanguinous parents who had clinical features of Goldenhar syndrome and cri du chat syndrome. At birth, the infant was noted to have dysmorphic features with bilateral preauricular tags, rotated ears, bilateral epicanthic folds, a left epibulbar lipodermoid, and an accessory left nipple. After he was assessed for feeding difficulty and tachypnea, he was found to have esophageal atresia with tracheoesophageal fistula. In addition, he had a high-pitched, cat-like cry, characteristic of cri-du-chat syndrome. He also failed a hearing test. Chromosomal analysis and fluorescence in situ hybridisation studies showed an unbalanced karyotype with a terminal deletion of the segment p14 on the short arm of chromosome 5, which is consistent with the cri-du-chat locus. The association of Goldenhar syndrome and cri-du-chat syndrome in this patient suggests that the chromosome 5p14 locus may harbor a gene implicated with Goldenhar syndrome.     

Analysis of magnetization transfer effects on T1-weighted spin-echo scans using a simple tissue phantom simulating gadolinium-enhanced brain lesions

The purpose of this study was to analyze the effect of several magnetization transfer (MT) pulse and T1-weighted spin-echo (SE) sequence parameters on lesion-to-background contrast, using a simple tissue phantom emulating the T1 relaxation and MT properties of gadolinium-enhanced brain lesions. Eggbeaters (Nabisco Inc., East Hanover, NJ) liquid egg product was doped with gadolinium in six concentrations from .0 to 1.0 mmol and cooked. The gadolinium-doped egg phantom and normal volunteer brains were studied using an SE sequence with TE = 20 msec and high power, pulsed, off-resonance MT saturation. The effects of MT pulse frequency offset (1,000–6,000 Hz), sequence repetition time (TR = 500–1,000 msec, with MT power held constant), and slice-select flip angle (60–120 degrees) on the magnetization transfer ratio (MTR) and the simulated lesion-to-background contrast were determined at the different “Intralesion” gadolinium concentrations. The MTR and lesion-to-background contrast of all materials were greatest at narrow MT pulse frequency offsets. There was an inverse relationship between gadolinium concentration and MTR and a positive correlation between the gadolinium concentration and lesion-to-background (L/B) contrast, a weak negative correlation between slice-select flip angle and L/B, and a negative correlation between TR and L/B. The relaxation properties and MT behavior of the egg phantom are close to that expected for enhancing brain lesions, allowing a rigorous analysis of several variables affecting lesion-to-background contrast for high MT power, T1-weighted SE sequences.     

Initial evaluation of123|-5-|-R91150, a selective 5-HT2A ligand for single-photon emission tomography, in healthy human subjects

The mapping of 5-HT₂ receptors in the brain using functional imaging techniques has been limited by a relative lack of selective radioligands. Iodine-123 labelled 4-amino-N-[1-[3-(4-fluorophenoxy)propyl]-4-methyl-4-piperidinyl]-5-iodo-2-methoxybenzamide (¹²³I-5-I-R91150 or¹²³I-R93274) is a new ligand for single-photon emission tomography (SPET), with high affinity and selectivity for 5-HT_2A receptors. This study reports on preliminary¹²³I-5-I-R91150 SPET, wholebody and blood distribution findings in five healthy human volunteers. Maximal brain uptake was approximately 2% of total body counts at 180 min post injection (p.i.). Dynamic SPET sequences were acquired with the brain-dedicated, single-slice multi-detector system SEM-810 over 200 min p.i. Early peak uptake (at 5 min p.i.) was seen in the cerebellum, a region free from 5HT_2A receptors. In contrast, radioligand binding in the frontal cortex increased steadily over time, up to a peak at approximately 100–120 min p.i. Frontal cortex-cerebellum activity ratios reached values of 1.4, and remained stable from approximately 100 min p.i. onwards. Multi-slice SPET sequences showed a pattern of regional variation of binding compatible with the autoradiographic data on the distribution of 5-HT_2A receptors in (cerebral cortex>striatum>cerebellum). These findings suggest that¹²³I-5-I-R91150 may be used for the imaging of 5-HT_2A receptors in the living human brain with SPET.     

Guidelines for laboratory testing and result reporting of antibody to hepatitis C virus. Centers for Disease Control and Prevention.

Testing for the presence of antibody to hepatitis C virus (anti-HCV) is recommended for initially identifying persons with hepatitis C virus (HCV) infection (CDC. Recommendations for prevention and control of hepatitis C virus [HCV] infection and HCV-related chronic disease. MMWR 1998;47[No. RR-19] :1-33). Testing for anti-HCV should include use of an antibody screening assay, and for screening test-positive results, a more specific supplemental assay. Verifying the presence of anti-HCV minimizes unnecessary medical visits and psychological harm for persons who test falsely positive by screening assays and ensures that counseling, medical referral, and evaluation are targeted for patients serologically confirmed as having been infected with HCV. However, substantial variation in reflex supplemental testing practices exists among laboratories, and an anti-HCV-positive laboratory report does not uniformly represent a confirmed positive result. These guidelines expand recommendations for anti-HCV testing to include an option for reflex supplemental testing based on screening-test-positive signal-to-cut-off (s/co) ratios. Use of s/co ratios minimizes the amount of supplemental testing that needs to be performed while improving the reliability of reported test results. These guidelines were developed on the basis of available knowledge of CDC staff in consultation with representatives from the Food and Drug Administration and public health, hospital, and independent laboratories. Adoption of these guidelines by all public and private laboratories that perform in vitro diagnostic anti-HCV testing will improve the accuracy and utility of reported anti-HCV test results for counseling and medical evaluation of patients by health-care professionals and for surveillance by public health departments.     

Magnetization transfer effects on T1-weighted three-dimensional gradient-echo MR images of a phantom simulating enhancing brain lesions.

PURPOSETo develop a simple tissue phantom to study the effects of various imaging parameters and gadolinium concentrations on magnetization transfer (MT) and lesion-to-background ratios.METHODSA commercial egg product was doped with gadolinium in concentrations of 0.0 to 1.0 mmol/L and cooked. The T1 and T2 values were determined for the phantom materials and for the white and gray matter of a healthy volunteer subject. The gadolinium-doped egg phantom and human brain were studied using a short-repetition-time three-dimensional gradient-echo MT sequence with various effective MT powers, frequency offsets, and section-select flip angles. The normalized signal intensities, MT ratios (MTRs), and simulated lesion-to-background normal white matter contrast ratios were determined for a variety of experimental conditions.RESULTSThe MTR and lesion-to-background contrast ratios for all materials were greatest at the highest effective MT power (270 Hz, root-mean-square of amplitude) and the narrowest MT pulse frequency offset (1000 Hz). There was an inverse relationship between gadolinium concentration and MTR, and a positive relationship between the gadolinium concentration and lesion-to-background contrast. MTR was greatest at low flip angles, where there was little T1 weighting. The simulated lesion-to-background contrast showed a complex, gadolinium concentration-dependent relationship with section excitation flip angle.CONCLUSIONSThe tissue phantom has relaxation properties and MT behavior close to that expected for enhancing brain lesions, allowing a rigorous analysis of simulated lesion-to-background contrast for high MT power, short-repetition-time, three-dimensional gradient-echo sequences.