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Multiple congenital supratentorial intracerebral cysts occurred in a newborn infant. The cysts, of varying size, content and lining, occupied the cerebral hemispheres. They formed a mosaic pattern on CT scan and left no trace of a recognisable ventricular system. Multiple surgical procedures were performed during the first year of life, and at one year the child was very well and asymptomatic, with two functioning shunts. 相似文献
5.
Delorenzi M Sexton A Shams-Eldin H Schwarz RT Speed T Schofield L 《Infection and immunity》2002,70(8):4510-4522
About 2.5 million people die of Plasmodium falciparum malaria every year. Fatalities are associated with systemic and organ-specific inflammation initiated by a parasite toxin. Recent studies show that glycosylphosphatidylinositol (GPI) functions as the dominant parasite toxin in the context of infection. GPIs also serve as membrane anchors for several of the most important surface antigens of parasite invasive stages. GPI anchoring is a complex posttranslational modification produced through the coordinated action of a multicomponent biosynthetic pathway. Here we present eight new genes of P. falciparum selected for encoding homologs of proteins essential for GPI synthesis: PIG-A, PIG-B, PIG-M, PIG-O, GPI1, GPI8, GAA-1, and DPM1. We describe the experimentally verified mRNA and predicted amino acid sequences and in situ localization of the gene products to the parasite endoplasmic reticulum. Moreover, we show preliminary evidence for the PIG-L and PIG-C genes. The biosynthetic pathway of the malaria parasite GPI offers potential targets for drug development and may be useful for studying parasite cell biology and the molecular basis for the pathophysiology of parasitic diseases. 相似文献
6.
Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal males 总被引:1,自引:0,他引:1
Klinefelter syndrome (KS) has not typically been associated with mental retardation (MR), however, in recent years a growing body of evidence suggested that KS boys often experience language deficits and academic difficulties. In this study, we screened DNA samples from 1205 patients originally referred for fragile X syndrome (FRAX) testing, because of MR of unknown etiology and detected 8 KS patients. A similar number of males in the same age group were found to have FRAX; 3 of them had a family history of FRAX. Based on these findings, KS might be the most common cause of MR of unknown etiology among prepubertal males. Because of the significant benefits of early recognition and treatment of KS, we emphasize the importance of cytogenetic testing of all prepubertal males with cognitive impairment even without dysmorphic features. 相似文献
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Ghazzawi IM; Sarraf MG; Taher MR; Khalifa FA 《Human reproduction (Oxford, England)》1998,13(2):348-352
A prospective study was carried out to compare the fertilizing capability
and pregnancy outcome following intracytoplasmic sperm injection (ICSI)
using spermatozoa obtained from ejaculates, or surgically from epididymis
or seminiferous tubules. A total of 77 ICSI cycles (one per patient) was
included. In all, 28 patients had severe oligoasthenoteratozoospermia, 19
patients had obstructive azoospermia and 30 patients had non-obstructive
azoospermia. The main outcome measures were fertilization rate per injected
metaphase II oocyte and the clinical pregnancy rate per embryo transferred
back to the female recipients. In patients with severe
oligoasthenoteratozoospermia, the fertilization and pregnancy rates were 79
and 25 %. In patients with obstructive azoospermia, for whom epididymal
spermatozoa were used, these were 75 and 28%, and in the non-obstructive
group for which testicular spermatozoa were used for injection, they were
69 and 21% respectively. These rates were not significantly different in
the three groups (P = 0.85 and P = 0.14 respectively), suggesting that
spermatozoa from the ejaculates and epididymal or testicular biopsies are
able to fertilize equally by using ICSI. Live birth per embryo transfer was
significantly reduced in patients with non-obstructive azoospermia compared
to the other two groups. The high abortion rate (50%) in the group in which
testicular spermatozoa were used raises doubts about the developmental
competence of such embryos.
相似文献
8.
M M Khalifa S Cappon D Soboleski D Armstrong 《American journal of medical genetics》2002,107(3):237-242
We describe three Canadian brothers of Cree origin, with a previously undescribed pattern of malformation including distinctive craniofacial abnormalities with triangular facies, hypertelorism, low-set and posteriorly rotated ears, ocular colobomas, ptosis, brachycephaly with widely separated sutures, cleft soft palate, undescended testes, bifid scrotum and hypospadius, wide webbed neck, webbed fingers, pectus excavatum and hypersegmented sternum, and severe psychomotor retardation. The presence of normal brain imaging and physical growth distinguishes them from other syndromes with overlapping abnormalities. This is either an X-linked or autosomal recessive condition. 相似文献
9.
Hosam E. Matar Benjamin V. Bloch Susan E. Snape Peter J. James 《The Journal of arthroplasty》2021,36(6):2131-2136
BackgroundThe aim of this study is to examine the differences in long-term mortality rates between septic and aseptic revision total knee arthroplasty (rTKA) in a single specialist center over 17-year period.MethodsRetrospective consecutive study of all patients who underwent rTKA at our tertiary center between 2003 and 2019 was carried out. Revisions were classified as septic or aseptic. We identified patients’ age, gender, American Society of Anesthesiologists grade, and body mass index. The primary outcome measure was all-cause mortality at 5 years, 10 years, and over the whole study period of 17 years. Death was identified through both local hospital electronic databases and linked data from the National Joint Registry/NHS Personal Demographic Service. Kaplan-Meier survival curves were used to estimate time to death.ResultsIn total, 1298 consecutive knee revisions were performed on 1254 patients (44 bilateral revisions) with 985 aseptic revisions in 945 patients (75.4%) and 313 septic revisions in 309 patients (24.6%). Average age was 70.6 years (range 27-95) with 720 females (57.4%). Septic revisions had higher mortality rates; patients’ survivorship for septic vs aseptic revisions was 77.6% vs 89.5% at 5 years, 68.7% vs 80.2% at 10 years, and 66.1% vs 75.0% at 17 years; these differences were all statistically significant (P < .0001). The unadjusted 10-year risk ratio of death after septic revision was 1.59 (95% confidence interval 1.29-1.96) compared to aseptic revisions.ConclusionrTKA performed for infection is associated with significantly higher long-term mortality at all time points compared with aseptic revision surgery.Level of EvidenceLevel IV. 相似文献