Two recent reports have described a polymorphism in HFE in the binding region of a PCR Primer Widely used in diagnosis of hereditary haemochromatosis (HHC), This polymorphism, IVS4+48G/A, is ...associated with the wild-type allele at the site of the common haemochromatosis mutation C282Y (845G arrow right A), and may prevent amplification of this allele. In population screening of 5,211 voluntary blood donors, Jeffrey et al. found that this polymorphism caused 15 C282Y/IVS4+48G/A compound heterozygotes to be incorrectly assigned as C282Y homozygotes. In a regional referral laboratory, Somerville et al. reported that 8 of 202 referrals were incorrectly assigned as C282Y homozygotes. We have retyped 944 samples for the C282Y mutation by a new primer external to IVS4+48G/A or by sequencing. We confirmed 575 previously diagnosed C282Y homozygotes using the new primer, as well as 192 C282Y wild-type homozygotes, including 10 IVS4+48G/A homozygotes, and 177 heterozygotes. Of the heterozygotes, 28 were C282Y/IVS4+48G/A compound heterozygotes which had been correctly reported using the original Feder reverse primer. Three of these, however, had a mutant:wild-type band ratio of approximately 5:1. Re-extraction of DNA from these samples resulted in bands of expected intensity for heterozygotes. This indicates that DNA purity may have an effect on accuracy of diagnosis. We did not observe non-amplification of the polymorphic allele under our various standard PCR conditions (http://genetics.nature.com/supplementary_info/).
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
We report experimental measurements of neutron production from collisions of neutron beams with polyethylene blocks simulating tissue at the Los Alamos National Laboratory Neutron Science Center and ...1 GeV/amu iron nuclei with spacecraft shielding materials at the Brookhaven National Laboratory AGS.
Carisoprodol-Induced Myoclonic Encephalopathy Roth, Brett A.; Vinson, David R.; Kim, Susan
Journal of toxicology. Clinical toxicology,
19/1/1/, Letnik:
36, Številka:
6
Journal Article
Recenzirano
Case Report; A 39-year-old man ingested 35 g carisoprodol. He developed agitation, tachycardia, myoclonus, and coma. The blood carisoprodol was 71 /tg/mL; the meprobamate was 26 μg/mL. Discussion: ...Carisoprodol overdose is thought to induce simple central nervous system depression. This case demonstrates a severe overdose with symptoms more consistent with myoclonic encephalopathy. A review of cases presenting to the San Francisco Division of the California Poison Control System during 1997 suggests that carisoprodol is more commonly associated with agitation and bizarre movement disorders than the current literature suggests. The pharmacology and potential mechanisms of toxicity are discussed. Conclusion: Agitation, hypertonia, and a myoclonic encephalopathy may be seen with significant carisoprodol intoxication.
The rapidly growing field of molecular biology has caused exponential growth in our knowledge of the processes of embryogenesis. Since the cloning of the androgen receptor gene in 1988, investigators ...have been able to clarify many of the molecular events of male sexual differentiation that are mediated through the androgen receptor. We reviewed the current state of knowledge of the androgen receptor and its role in male genital development.
An intensive literature search was conducted to review reports on the androgen receptor and sexual differentiation since 1988. This review also includes ongoing research from our laboratory on the role of the androgen receptor in human genital development, as well as collaboration with other investigators.
We reviewed the basic molecular biology of androgenic action mediated through the androgen receptor. This information has been integrated into the current understanding of human male sexual differentiation to clarify how androgens virilize the undifferentiated embryo. Defects in function of the androgen receptor may be manifested as a spectrum of phenotypes of the androgen insensitivity syndrome, and these phenotypes of male pseudohermaphroditism have been reviewed on a clinical and molecular basis. New molecular techniques have augmented the evaluation and diagnosis of the androgen insensitivity syndrome, and some groups have successfully diagnosed the condition prenatally.
Basic scientific research of androgen receptor function and its role in male sexual development has provided a clearer understanding of the mechanisms responsible for the spectrum of defects secondary to the androgen insensitivity syndrome. This knowledge will enable clinicians to offer more accurate diagnosis and insightful counseling to affected patients and their families.
We describe the instrument design and detector development for MANES which has been selected to fly on the Mars 2003 Lander. Section 1 explains the need for the spectrometer in determining the ...increased risk of carcinogenesis for astronauts. Section 2 presents the instrument design including an outline drawing, a cross-sectional view and a detailed block diagram. Sections 3 and 4 describe the low and high energy detector components of the spectrometer and present responses to monoenergetic neutron beams. Sections 5 and 6 explain the design approaches to charged particle discrimination and instrument transfer function modeling.
Renal anatomy and function are usually monitored in the myelomeningocele population using routine ultrasound as the child grows. Clinical questions arise when a renal unit is of marginal size when ...evaluated with nomograms derived from normal patient populations. Our goal was to construct a renal size nomogram using ultrasound for the myelomeningocele population to help the clinician identify abnormal growth.
We reviewed the charts and radiological files of 96 patients with myelomeningocele followed at our institution. Images of 930 renal units were included to construct the nomogram. Patients were excluded from study due to hydronephrosis or hydroureter, solitary kidney, recurrent symptomatic urinary tract infection, vesicoureteral reflux, reconstructive surgery or known high bladder storage pressure.
A renal size nomogram was constructed by plotting patient age against maximal renal length on real-time ultrasound. Expected mean and standard deviations were calculated for each age group.
Previous studies using excretory urography have shown that kidneys in the myelomeningocele population are smaller than in a healthy control population. Ultrasound is now the modality most commonly used to monitor renal anatomy. The creation of a renal nomogram based on ultrasound should help the clinician identify abnormal renal growth more accurately.
This paper describes a modification of bilateral posterior iliac osteotomies for bladder exstrophy, in which a strip of ilium is resected subperiosteally lateral to the sacroiliac joints, allowing ...easier anterior closure with less breakdown compared with traditional osteotomies. Thirty-one children underwent repair of bladder exstrophy between 1974 and 1994. Orthopaedic procedures included: closed reduction and cast application in the newborn period (four patients), classic bilateral posterior iliac osteotomies (12 patients), and bilateral posterior resection osteotomies (15 patients). Dehiscence occurred after one closed reduction, five classic osteotomies, and one resection osteotomy. Urinary continence was obtained in four patients who underwent closed reduction, nine patients who underwent classic posterior osteotomies, and nine patients who underwent posterior resection osteotomies.
Urological disorders or abnormalities that affect children were discussed at the 61st annual meeting of the American Academy of Pediatrics. Different disorders and abnormalities may affect the ...testes. These include failure of the testes to descend, nonpalpable testis and decreased fertility. Bladder exstrophy is a rare disorder that occurs when the bladder turns inside out during development. Children with this disorder are treated with surgery. Hypospadias is a developmental anomaly in boys in which the urethra opens on the underside of the penis or the pelvic floor. It may be caused by abnormalities in male hormone receptors during gestation, and there are several new surgical treatments. Methods for diagnosing and treating vesicoureteral reflux were presented at the conference, and new techniques for bladder augmentation were discussed. Abnormalities that affect the kidneys were also discussed.
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