Conjoined twin's cephalothoracopagus janiceps monoymmetros: a case report.
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Biomedical subjects
Publications and source records attributed to C C Lee.
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OBJECTIVES: Autologous fat has been used as a bulking implant material for stress urinary incontinence. There is considerable controversy as to the ultimate fate of the grafted fat. This study was conducted to determine the fate of autogenous fat implanted into the bladder of rats. METHODS: Two groups of adult female rats were studied. In the test animals (group 1, n = 20), mesenteric adipose tissue (1 mL) was harvested and homogenized with an equal weight of sterile saline. Using a 25-gauge needle, 0.5 g of saline-fat mixture was injected into the dorsal bladder neck submucosa. Control animals (group 2, n = 12) were injected with sterile saline only. A subset of animals from each group were killed after 7, 35, 105, and 1 50 days, and the bladder and urethra were fixed. The fixed tissue was examined microscopically and photographed at each follow-up period. RESULTS: Seven days after injection of fat, there was a pronounced acute inflammatory reaction with numerous polymorphonuclear leukocytes and macrophages at the site of fat injection. There was minimal inflammatory reaction at the site of saline injection. By day 35, most of the fat had been eliminated by these phagocytes because of severe acute and chronic inflammation. By day 105, the submucosa tissue of the experimental rats had returned to normal visually and to a flat surface, lacking the appearance of a sizable "bulge" as shown at days 0 and 7. Histopathologic findings were also similar to the control rats. Inflammatory cells were no longer present by day 105. CONCLUSIONS: The implantation of homogenized, autologous fat in the rat urinary bladder submucosa causes acute and chronic inflammation and fat necrosis. The severe phagocytosis at the implant sites eliminates the vast majority of the devitalized implanted fat during the first month.
The present study was designed to investigate whether noradrenergic neurotransmission regulates the gene expression of gonadotropin-releasing hormone (GnRH) in the preoptic area and GnRH receptor in the pituitary. To this end, N-(2-chloroethyl)-N-ethyl-2-bromobenzylamine (DSP4, 50 mg/kg), an intraperitoneal (i.p.) injection of selective noradrenergic neurotoxin, was administered 1 h before progesterone (1 mg) treatment in ovariectomized and estradiol-treated prepubertal rats. Treatment with DSP4 effectively blocked the progesterone-induced increase in hypothalamic noradrenaline content, but not dopamine content, indicating that DSP4 selectively inhibits noradrenergic neurotransmission. DSP4 significantly blocked progesterone-induced increase in serum luteinizing hormone (LH) concentrations as well as GnRH release from hypothalamic fragments incubated in vitro. DSP4 concomitantly down-regulated GnRH mRNA levels in the preoptic area, as determined by competitive reverse transcription-polymerase chain reaction. DSP4 also clearly down-regulated progesterone-induced GnRH receptor mRNA levels in the pituitary, whereas it failed to alter LHbeta mRNA levels. In summary, blockade of noradrenergic neurotransmission with DSP4 resulted in profound reductions of hypothalamic GnRH and pituitary GnRH receptor gene expression.
A case featuring a well differentiated adenocarcinoma mixed with a transitional cell carcinoma (TCC) arising in the renal pelvis of a 63-year-old woman is presented. Daughter tumors, located in the ureter and the uretero-vesical junction, were entirely TCC in character. Immunohistochemical assessment of cell cycle-related proteins revealed overexpression of cyclin D1 but reduced p21WAF1/Cip1 or PCNA expression in the adenocarcinomatous regions. Conversely, expression of p21WAF1/Cip1 and PCNA was high in the TCC components. Immunohistochemical staining for p53 was negative and PCR-SSCP analyses confirmed the absence of any mutation. Therefore, assessments on the altered expression of cell cycle-related elements may contribute to our understanding of tumor biology in adenocarcinomas and TCCs of the renal pelvis and to identifying the similarities and differences between the two different cell types.
An investigation of employers' awareness and compliance with occupational health and safety (OHS) regulations was conducted in a representative group of employers randomly selected from the manufacturing industry in Taiwan. A total of 1,003 employers were interviewed by trained public health personnel. Ten questions related to perceptions of general OHS and five practices on OHS regulations were measured. The results of this study show that the employers were better aware of their responsibility for posting safety warnings, personal protection and providing safety and health equipment. They were less aware of their responsibility in minimizing injuries and accidents in the workplace and in not hiring someone who was found unfit for a certain job from pre-employment physical examination. Less than half of employers knew about regulations of environmental monitoring and even fewer had heard of Material Safety Data Sheets. Level of education and size of the plant were highly associated with employers' awareness of OHS and the awareness was the most significant predictor in the five practices of OHS regulations in this study. Promotion of employers' awareness of OHS in small sized industries in particular, is warranted to enhance better compliance, and a focus for these efforts is identified by this investigation.
We present the perinatal findings of a fetus with a de novo unbalanced chromosome translocation that resulted in monosomy for proximal 14q and monosomy for distal 4p. Prenatal sonographic examination at 27 weeks of gestation showed intrauterine growth retardation, microcephaly, cardiomegaly with arrhythmia, and asymmetry of the upper limbs. Genetic amniocentesis showed an abnormal karyotype of 45,XX,der(4)t(4;14)(p16.3;q12),-14. Linkage analysis of the family confirmed the maternal origin of the deletions. Molecular refinement of the deletion breakpoints indicated that the breakpoints at 4p16.3 and 14q12 were located between loci D4S403 (present) and D4S394 (absent), and between loci D14S252 (present) and D14S64 (absent), respectively. Necropsy showed dysmorphic features compatible with Wolf-Hirschhorn syndrome, hypertrophic cardiomyopathy, partial hemihypoplasia, and a normal brain without evidence of holoprosencephaly. Our case adds to the list of clinical phenotypes associated with the proximal regions of 14q.
Computed tomography (CT) and magnetic resonance (MR) imaging were performed in three diabetic patients with endophthalmitis and liver abscess secondary to Klebsiella pneumoniae infection. Ocular abnormalities included early uveoscleral thickening, fulminant exudative vitreous humor, and late phthisis bulbi. Characteristic imaging findings of endophthalmitis in diabetic patients with liver abscess should raise a high index of suspicion for K pneumoniae infection.
In view of the possible involvement of apolipoprotein A2 (apoA2) in lipoprotein metabolism, we investigated the association between genetic variation of the APOA2 gene and lipid levels in Korean subjects with hypertriglyceridemia. The MspI rare allele (M-) frequency in hypertriglyceridemic subjects was higher than that in normal control subjects, although the difference was not statistically significant. The M- allele frequency in a healthy population was higher in Koreans (0.27) than in Caucasian groups (0.10-0.21) studied previously. APOA2 polymorphism had an effect on plasma triglyceride levels in hypertriglyceridemic samples (p < 0.005). Triglyceride levels showed a gene dosage effect with the heterozygous genotype having an intermediate level between the two homozygous genotypes. However, the normal control group showed a lack of association with lipid traits. Thus the results suggest that, at least in Koreans, among hypertriglyceridemic subjects there is an association between APOA2 MspI genotypes and triglyceride levels.
We report on the prenatal diagnosis, genetic studies, and pathology of a case with de novo isochromosome 13q. A 31-year-old primigravida was referred for genetic counselling at 26 weeks' gestation due to the sonographic findings of intrauterine growth retardation and microcephaly. Level II ultrasonograms further demonstrated alobar holoprosencephaly, hypotelorism, polydactyly, a ventricular septal defect, and a single nostril. A diagnosis of cebocephaly was made. Genetic amniocentesis and cord blood sampling revealed translocation trisomy 13 with a de novo t(13q13q) rearrangement. Chromosomal analysis using G- and C-banding techniques and fluorescence in situ hybridization (FISH) showed an apparent monocentric isochromosome. Molecular analyses using polymorphic molecular markers showed that the rearrangement was consistent with an isochromosome of maternal chromosome 13q[46,XX,i(13)(q10)]. Necropsy confirmed cebocephaly and the prenatally detected anomalies.
PURPOSE: Our purpose was to assess the pattern of functional MR activation obtained with a passive sensory versus an active sensorimotor hand stimulus paradigm. METHODS: Eight functional MR runs, four with an active sensorimotor (sponge-squeezing) task and four with a passive sensory (palm-finger brushing) reception, were acquired for each of 10 healthy volunteers. Activation maps were generated by thresholding cross-correlation maps. Regions of interests (ROIs) were drawn around the precentral and postcentral gyri on T1-weighted images according to established anatomic criteria, and the number of activated pixels inside the ROIs was ascertained. Displacement of the sensorimotor and sensory activation centroids within the ROIs from the central sulcus as well as from each other was measured. RESULTS: Active sensorimotor stimulation produced a significantly greater number of activation pixels than did passive sensory stimulation. Run-to-run variability was equivalent between sensorimotor and sensory activation tasks. On average, the sensorimotor and sensory activation centroids were located in the postcentral gyrus, and their spatial locations were not significantly different. CONCLUSION: Active and passive activation tasks produce largely equivalent results. Presurgical mapping of the sensorimotor area can be performed with functional MR imaging using a passive palm-finger brushing task in patients who are physically unable to perform active finger-tapping or hand-squeezing sensorimotor activation tasks.
De novo interstitial 16q deletion diagnosed in utero has not previously been reported. We present a case of fetal de novo interstitial 16q deletion associated with the sonographic findings of prominent coronal sutures, a prominent frontal bone, and shortening of the long bones. Genetic amniocentesis at 23 weeks' gestation revealed a de novo deletion of 16q13-q22. At birth, the fetus manifested a dysmorphic phenotype correlated with monosomy 16q syndrome. Linkage analysis of the family confirmed the maternal origin and the extent of the deletion. We suggest that prenatal detection of a prominent frontal bone with prominent cranial sutures and shortening of the long bones should prompt cytogenetic analysis looking for a deletion in the long arm of chromosome 16.
Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report documents an affected mother and son in whom one of the two mutations in AS had occurred sporadically in the mother. The diagnosed of AS was based on associated abnormal physical features and on molecular genetic analysis. A C-to-G transversion at position 937 of the cDNA resulting in a proline-to-arginine substitution at codon 259 was found in the mother. In her second pregnancy, prenatal diagnosis by both restriction analysis and direct sequencing was undertaken and this showed that the female fetus had not inherited the mutation.
The occurrence of a subdural hematoma caused by the rupture of an intracranial aneurysm is rare. In our case, the patient is a 43-year-old woman who suffered from sudden onset of severe headache. Computed tomographic (CT) scan disclosed a subdural hematoma associated with subarachnoid hemorrhage. CT angiography and digital subtraction angiography revealed an elongated aneurysm adhering to the dura in the left Sylvian fissure. The subdural hematoma was evacuated and the aneurysm clipped. The patient made a full recovery.
Access to fully processed activation maps in near real time during a functional MR examination enables run-to-run assessment of results. This is particularly useful in clinical studies, since the results of the functional MR examination can be ascertained before the patient leaves the MR suite, permitting interactive tailoring of the functional MR study. We describe how a real-time MR system can be customized to complete the following tasks in less than 3 minutes: obtain an 81-second acquisition of a multisection functional MR imaging time series using single-shot echo-planar imaging, perform image reconstruction, extract functional MR activation maps using cross-correlation and thresholding, and superimpose activation maps on previously acquired T1-weighted anatomic images.
BACKGROUND: Ebstein anomaly is a rare tricuspid valve anomaly. Some fetuses with Ebstein's anomaly have concurrent severe cardiac function impairment, which results in hydrops fetalis. Most of these fetuses are inevitably terminally ill. No reports have demonstrated the potential prenatal therapy for fetuses under such conditions. CASE: Ebstein's anomaly and hydrops fetalis were detected at 28 weeks' gestation. Tricuspid regurgitation with congestive heart failure was observed. From 28 to 34 weeks' gestation, intrauterine therapy with digoxin, 0.75 mg/d, was administered. The fetal hydrops status improved gradually, while the tricuspid valve regurgitation persisted. At 36 weeks' gestation the fetus was delivered normally. During the neonatal phase, digoxin was continued and gradually tapered off. The tricuspid valve regurgitation and cardiomegaly gradually improved. CONCLUSION: The favorable outcome in this case supports the positive effect of prenatal digoxin therapy for Ebstein's anomaly with hydrops fetalis. In such conditions, upon the appearance of hydrops and congestive cardiac failure, immediate digoxin therapy may be useful. This successful trial encouraged us to manage such fetuses more aggressively.
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Late infantile GM1 gangliosidosis is an extremely rare metabolic disorder with clinical features of seizure and progressive motor and mental retardation without facial dysmorphism or visceral organomegaly. We report the CT and MR imaging findings in one infant, which included abnormalities of the cerebral cortex, white matter, and deep nuclei.
BACKGROUND AND PURPOSE: Differential considerations for pineal region CSF collections include both true cysts and normal cystlike anatomic variations. Our purpose was to determine the sonographic characteristics of pineal region fluid spaces that reflect the presence of a normal persistent cavum velum interpositum (CVI). METHODS: Eighteen neonates and infants who had sonographic findings of "cysts" in the pineal region were examined prospectively with conventional sonography and color Doppler sonography to evaluate the shape of the fluid collection and its anatomic relationship with the color-coded internal cerebral veins. Subsequent MR images were obtained in eight of these infants to determine the exact nature of the cystlike collections. RESULTS: The cystlike spaces in the pineal region were of an inverted helmet shape in 14 subjects and roundish in four. All were situated inferior or slightly anteroinferior to the splenium of the corpus callosum and 2.5 to 4 mm away from the quadrigeminal plate. The internal cerebral veins were either inferior (n = 12) or inferolateral (n = 6) to the cystlike spaces at sonography. Subsequent MR studies confirmed eight of these cystlike spaces to be the posterior portion of the CVI. CONCLUSION: The CVI may appear as a cyst in the pineal region on neonatal sonograms. Usually, it has a characteristic inverted helmet shape and is situated beneath the fornices and above the internal cerebral veins.