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101.
A diagnosis of Hirschsprung's disease should be considered in children with constipation. An accurate neonatal history of bowel function and testing of anorectal pressure responses will aid the diagnosis. In the period 1971-75 inclusive, 140 children, aged 6 months to 14 years, were investigated by anorectal manometry. 26 showed a failed inhibition response to rectal dilatation, suggesting Hirschsprung's disease and were treated by anorectal myectomy. In 24 the disease was confirmed histologically. Two specimens were diagnostically unsuitable. 4 required repeat myectomies, and 3 anterior resection. At follow-up all had normal bowel movements without soiling. 相似文献
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Schambelan M Benson CA Carr A Currier JS Dubé MP Gerber JG Grinspoon SK Grunfeld C Kotler DP Mulligan K Powderly WG Saag MS;International AIDS Society-USA 《Journal of acquired immune deficiency syndromes (1999)》2002,31(3):257-275
OBJECTIVE: Alterations in glucose and lipid metabolism, lactic acidemia, bone disorders, and abnormal body fat distribution have been recognized recently as frequent complications associated with HIV-1 infection and potent antiretroviral therapy, but limited data are available regarding the appropriate management of these disorders. These recommendations were developed to guide physicians actively involved in HIV care in the management of metabolic complications that occur primarily within the context of potent antiretroviral therapy. PARTICIPANTS: A 12-member panel representing international expertise in HIV-1 patient care, antiretroviral therapy, and endocrine and metabolic disorders was selected in the spring of 2000 by the International AIDS Society-USA, a not-for-profit physician education organization. Panel members met in closed meetings beginning in May 2000. All work was funded by the International AIDS Society-USA; the panel members are not compensated for their participation. EVIDENCE: The panel reviewed published results of clinical, epidemiologic, and basic science studies and data and abstracts presented at research conferences, primarily from 1997 to 2002. The panel also considered studies of the pathophysiology and treatment of similar metabolic abnormalities in noninfected persons. Emphasis was placed on results from prospective, randomized, controlled clinical trials when available. PROCESS: For each metabolic complication, 1 or more member(s) reviewed and presented all available evidence to the panel, and then wrote a summary of the evidence and preliminary recommendations. Final recommendations were determined by full group consensus. The summaries were combined into a single working document and all panel members edited and approved all subsequent drafts. CONCLUSIONS: Carefully controlled studies to determine the incidence, etiology, risk factors, and most appropriate treatments for metabolic complications in HIV-1 infection are urgently needed. In the absence of these data, and to prevent acute illness and mitigate long-term risks, the panel recommends routine assessment and monitoring of glucose and lipid levels and assessment and monitoring of lactic acidemia and bone abnormalities if clinical signs or symptoms are detected. With the exception of body fat distribution abnormalities, specific treatments for these complications are also recommended. Successful long-term antiretroviral therapy will require diligent monitoring and preemptive treatment of metabolic complications to optimize the risk-benefit ratio of antiretroviral therapies. 相似文献
104.
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W G Powderly M S Saag G A Cloud P Robinson R D Meyer J M Jacobson J R Graybill A M Sugar V J McAuliffe S E Follansbee 《The New England journal of medicine》1992,326(12):793-798
BACKGROUND. After primary treatment for cryptococcal meningitis, patients with the acquired immunodeficiency syndrome (AIDS) require some form of continued suppressive therapy to prevent relapse. METHODS. We conducted a multicenter, randomized trial that compared fluconazole (200 mg per day given orally) with amphotericin B (1 mg per kilogram of body weight per week given intravenously) in patients with AIDS who had completed primary therapy for cryptococcal meningitis with amphotericin B (greater than or equal to 15 mg per kilogram). To be eligible, patients had to have at least two negative cultures of cerebrospinal fluid immediately before randomization. The primary end point was relapse of cryptococcal disease as confirmed by biopsy or culture. RESULTS. Of 218 patients initially enrolled, 119 were assigned to fluconazole and 99 to amphotericin B. Twenty-three patients were found not to have met the entry criteria; six other patients assigned to amphotericin B did not receive it and were lost to follow-up. Of the remaining 189 patients, after a median follow-up of 286 days 14 of 78 receiving amphotericin B (18 percent) and 2 of 111 assigned to fluconazole (2 percent) had relapses of symptomatic cryptococcal disease (P less than 0.001 by Fisher's exact test). There was a difference of 19 percent in the estimated probability of remaining relapse-free at one year between the fluconazole group (97 percent) and the amphotericin B group (78 percent) (95 percent confidence interval, 7 percent to 31 percent; P less than 0.001). Serious drug-related toxicity was more frequent in the amphotericin B group (P = 0.02), as were bacterial infections (P = 0.004) and bacteremia (P = 0.002). CONCLUSIONS. Fluconazole taken by mouth is superior to weekly intravenous therapy with amphotericin B to prevent relapse in patients with AIDS-associated cryptococcal meningitis after primary treatment with amphotericin B. 相似文献
106.
Powderly WG 《Journal of acquired immune deficiency syndromes (1999)》2002,29(Z1):S28-S40
Three categories of highly active antiretroviral therapy (HAART)-associated major toxic effects have been identified: nucleoside-related toxic effects (e.g., neuropathy, myopathy, pancreatitis, hepatic steatosis, lactic acidosis, and possibly lipoatrophy), metabolic complications (e.g., fat redistribution, insulin resistance, and hyperlipidemia), and bone disease (e.g., osteopenia and/or osteoporosis). The toxic effects caused by nucleosides are hypothesized to be a result of mitochondrial injury and include myopathy, pancreatitis, liver failure, and lactic acidosis. Alterations in lactic acid metabolism range from common instances of asymptomatic lactic acidemia to rare occurrences of life-threatening lactic acidosis with hepatic steatosis. A metabolic syndrome consisting of lipodystrophy (i.e., fat redistribution), hyperlipidemia and insulin resistance has been observed, particularly with protease inhibitor treatment. Some additive interaction between protease inhibitors and nucleosides has also been described. The potential relationship of these metabolic abnormalities to increased risk of cardiovascular disease and diabetes has broad implications on long-term patient management. Lipodystrophy associated with HAART is generally accompanied by potentially serious abnormalities, including dyslipidemia (i.e., hypercholesterolemia and hypertriglyceridemia) and altered glucose metabolism (i.e., insulin resistance). Regimens of HAART may have adverse effects on bone metabolism, as indicated by emerging reports of osteopenia, osteoporosis, and avascular necrosis. 相似文献
107.
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I 总被引:2,自引:0,他引:2
Michalickova K; Susic M; Willing MC; Wenstrup RJ; Cole WG 《Human molecular genetics》1998,7(2):249-255
Ehlers-Danlos syndrome (EDS) is a heterogeneous connective tissue disorder
that severely impairs the structure and function of the skin, joints, eyes
and blood vessels. We have identified mutations of the COL5A2 gene, which
encodes the alpha2(V) chain of type V collagen, in two unrelated patients
with the severe type I form of EDS. The first proband was heterozygous for
a 7 bp deletion that resulted in skipping of exon 27 while the second
proband was heterozygous for a single nucleotide substitution that resulted
in skipping of exon 28. Cultured dermal fibroblasts from both probands
produced about equal amounts of the normal and mutant alpha2(V) mRNAs and
protein chains. The dermis from the first proband contained a sparse
collagen fibrillar network with great variability in collagen fibril sizes
and shapes. The dermal collagens were also abnormally soluble. Bone cells
from the first proband also produced about equal amounts of the normal and
mutant alpha2(V) mRNAs. However, the collagen fibrillar architecture and
collagen solubility of the bone matrix were normal. Our findings show that
heterozygous mutations of the COL5A2 gene can produce the EDS type I
phenotype. They also suggest that type V collagen plays a more important
role in collagen fibrillogenesis of dermis than that of bone.
相似文献
108.
109.
Supratentorial ependymoma: CT appearance 总被引:5,自引:0,他引:5
Armington WG; Osborn AG; Cubberley DA; Harnsberger HR; Boyer R; Naidich TP; Sherry RG 《Radiology》1985,157(2):367-372
The computed tomographic appearances of 22 biopsy-proved supratentorial ependymomas were analyzed. Supratentorial ependymomas were usually intraparenchymal, larger than 4 cm, and cystic. Contrast enhancement was moderate to intense, with homogeneous or ring-enhancement patterns commonly seen. Intratumoral calcification was present in one-third of the cases, while hydrocephalus and peritumoral edema were seen in 50%. Intratumoral hemorrhage was not a characteristic of the lesion. In contrast to cellular ependymomas, malignant ependymomas and ependymoblastomas demonstrate higher attenuation prior to administration of contrast material, more intense enhancement, lower frequency of calcification within the tumor, and less distinct margination. 相似文献
110.