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PubMed2002

Disease activity in multiple sclerosis correlates with T lymphocyte expression of the inhibitor of apoptosis proteins.

The pathogenesis of multiple sclerosis (MS) is thought to involve failure of programmed cell death (apoptosis) to eliminate potentially pathogenic, autoreactive T lymphocytes. This failure may be caused by multiple abnormalities of the cell death machinery. The inhibitors of apoptosis (IAP) proteins are central regulators of cell death that inhibit apoptosis induced by a variety of stimuli. In this study, we investigated the dynamics of cellular IAP-1, IAP-2, and X-linked IAP, in resting and mitogen stimulated T lymphocytes from MS patients and relevant controls. The expression of IAP proteins was significantly higher in mitogen stimulated T lymphocytes from patients with clinically active MS when compared to corresponding expressions from patients with stable MS or from other controls. Heightened expression of IAP proteins in patients with active MS correlated with clinical features of disease activity, and with T lymphocyte resistance to apoptosis. In contrast, cellular expression of the anti-apoptosis protein Bcl-2 did not differ between active and stable MS, and was relatively similar between MS patients and controls. These findings suggest that overexpression of IAP proteins in stimulated T lymphocytes is a feature of clinically active multiple sclerosis.

Adult↗

PubMed2001

Upregulation of the inhibitor of apoptosis proteins in activated T lymphocytes from patients with multiple sclerosis.

The pathogenesis of multiple sclerosis (MS) may involve failure of programmed cell death (apoptosis) to eliminate potentially pathogenic, autoreactive T lymphocytes. This failure may be caused by multiple abnormalities of the cell death machinery. In this study, we investigated the expression of the inhibitors of apoptosis (IAP) proteins, cellular IAP-1, IAP-2, and X-linked IAP (XIAP), in T lymphocytes from patients with active relapsing-remitting MS and appropriate controls. The expression of IAP proteins was significantly higher in mitogen-stimulated intrathecal and peripheral T lymphocytes from MS patients when compared to corresponding expressions from inflammatory and non-inflammatory neurologic controls, and healthy individuals. IAP proteins were also expressed in resting (unstimulated) T lymphocytes predominantly from MS patients. The heightened expression of IAP proteins in MS patients correlated with T lymphocyte resistance to apoptosis, and was independent of cellular expression of the death receptor protein Fas. In contrast, cellular expression of the anti-apoptosis protein Bcl-2 was relatively similar between MS patients and the control groups. These findings suggest that over-expression of IAP proteins in mitogen-stimulated T lymphocytes is a feature of multiple sclerosis.

Apoptosis↗

PubMed1999

Sonographic features of fetal trisomy 18 at 13 and 14 weeks: four case reports.

Fetal trisomy 18 is the second most common multiple malformation syndrome. We present four cases of trisomy 18 with multiple sonographic abnormalities at 13 and 14 weeks of gestation. These cases demonstrated that fetal hand deformities can be a tell-tale sign of trisomy 18 with or without increased nuchal translucency at this gestation.

Abnormalities, Multiple↗

PubMed2001

Multiple sclerosis with secondary syringomyelia. An autopsy report.

We report an elderly woman with multiple sclerosis who showed an extensive cavity formation in the midthoracic cord in addition to multiple abnormal intensity signals in the central nervous system on magnetic resonance imaging (MRI). The cavity decreased in size in response to corticosteroid therapy with an improvement in neurological symptoms. The autopsy demonstrated a slit-like cavity lined with no ependymal cells on the luminal surface in the lower cervical to midthoracic cord, with circumferentially distributed demyelinative lesions, leading to the pathological diagnosis of secondary syringomyelia. In this patient a limited necrosis formed in the spinal cord might have developed into a cavity formation with edematous fluid leading to subsequent episodes of neurological exacerbation.

Aged↗

PubMed1994

[A case of multiple sclerosis associated with granulomatous panuveitis].

A case of multiple sclerosis (MS) associated with granulomatous panuveitis was reported. A 45-year-old woman developed diplopia in 1972, at age 24, optic neuritis in 1974 and acute transverse myelopathy in 1981. Subsequently, while being under our care with the clinical diagnosis of MS, right abducens palsy in 1989, deterioration of paraparesis with remission in 1991, and weakness of left arm in 1992 occurred. CSF study revealed high IgG index and brain MRI showed multiple abnormal intensity areas in the deep white matter and periventricular areas bilaterally. On the beginning in March, 1993, she noticed left hazy vision and the ophthalmological examinations revealed marked mutton-fat like keratic precipitates, posterior synechiae, cells and flare in anterior chamber, retinal phlebitis and snow ball vitreous opacity. Granulomatous panuveitis was diagnosed and treated by topical steroid with improvement within two months. During this episode, no neurological deterioration was seen. Granulomatous uveitis in MS was rarely documented in the literatures, but this seems to be more common in women, mildly symptomatic or asymptomatic and responds well to topical steroid treatment.

Female↗

PubMed1999

[Single-system ectopic ureters. A review of 19 cases].

Single system ectopic ureters are usually associated with multiple congenital abnormalities and the corresponding renal units is frequently abnormal. 19 cases of single system ectopic ureters were diagnosed and treated in our hospital during the last 20 years. The patients were less than 11 years old. The abnormality was bilateral in two cases and the 63% of all had associated malformations, being the anorectal abnormalities the most frequent. The incidence of reflux into the ectopic ureter was 57%, and the association to unilateral or contralateral renal agenesis, 26.3%. Thirteen ectopic ureters were reimplanted successfully into the bladder, and the cases of nonfunctioning kidneys were removed (nephroureterectomy). The follow-up period was 10 months to 14 years, developing the 68% of the cases without any complication and a good renal function. Two patients were transplanted due to a kidney failure. Diagnosis is often extremely difficult and requires a high degree of suspicion. This diagnosis may be incidental, and it may be made during investigation of patients with other malformations. An early diagnosis and treatment must be made in order to avoid a disturbance of renal function. We wish to point up the high incidence of reflux into the ectopic ureter and the high association to renal agenesis in the single system ectopic ureters in comparison with ectopic ureter of duplex system.

Abnormalities, Multiple↗

PubMed1987

Plasma lipid and lipoprotein concentrations in Chinese males with coronary artery disease, with and without hypertension.

Plasma lipid and lipoprotein concentrations were determined in 125 Chinese males with a medical history and electrocardiographic abnormalities consistent with the diagnosis of coronary artery disease (CAD). All subjects underwent coronary arteriography, and patients were divided into 3 groups based upon the results of the coronary arteriograms: 1) patients with a negative angiogram (CAD-, n = 30), without hypertension; 2) patients with a positive angiogram, without hypertension (CAD+, n = 70); and 3) patients with a positive angiogram, who had hypertension (CAD + HT, n = 25). Mean fasting plasma lipid and lipoprotein concentrations of these 3 groups of patients were compared to values in age and weight-matched groups of normal individuals (n = 80) and untreated patients with hypertension and no evidence of CAD (HT, n = 20). The results indicated that total plasma triglyceride, cholesterol, and LDL-cholesterol levels were significantly higher (P less than 0.001) than normal in patients with CAD+ and CAD + HT, whereas only plasma cholesterol levels were higher than normal in patients with HT. Although patients with CAD- had values intermediate between normal and CAD, the differences were not statistically significant. In addition, the ratio of LDL to HDL-cholesterol was significantly increased (P less than 0.05-0.001) above normal in patients with CAD+, CAD + HT, and HT. As before, the values in patients with CAD- were intermediate. These data document the presence of multiple abnormalities of lipid and lipoprotein concentration in patients with angiographic evidence of CAD, whether or not they were hypertensive. Furthermore, abnormalities in lipid and lipoprotein metabolism were seen in patients with hypertension alone.

Aged↗

PubMed1996

Sulindac and indomethacin inhibit formation of aberrant crypt foci in the colons of dimethyl hydrazine treated rats.

Aberrant crypt foci are microscopic lesions found in the colons of rodents treated with carcinogens, and in patients with premalignant colorectal conditions. They consist of single or multiple abnormal crypts and show cellular changes ranging from dysplasia to microscopic adenomacarcinoma. It is thought that these lesions represent the initial stages of the adenomacarcinoma path that results in the development of colorectal neoplasia. We have examined the effect of sulindac and indomethacin on the formation of aberrant crypt foci in rats treated with dimethylhydrazine (DMH). Aberrant crypt foci were induced in male Sprague-Dawley rats with two oral doses of dimethyl hydrazine at 25 mg/kg per dose. Rats were randomized to receive sulindac at 3 mg/kg (n = 20) or 10 mg/kg (n = 18) b.d., indomethacin at 1 mg/kg per day (n = 18) or 2 mg/kg per day (n = 19) or control (n = 37). Drug treatment was started on the day following the first dose of carcinogen and continued for 3 weeks. Colons were fixed flat overnight in 10% formalin and stained with 0.2%. Methylene Blue solution before being studied. There was a significant reduction in the number of aberrant crypt foci in rats treated with 10 mg/kg b.d., sulindac (P = 0.001) and indomethacin at 2 mg/kg per day (P = 0.0002). Sulindac, at 3 mg/kg b.d., and indomethacin, at 1 mg/kg per day, did not have a statistically significant effect (P = 0.089 and P = 0.052, respectively). None of the drug treatments affected the relative frequency of single crypt vs multiple crypt foci. Previous studies have shown that sulindac and indomethacin will significantly inhibit the growth and development of tumours in DMH treated rats. The current data suggest that one of the pathways of action of NSAID is to inhibit the formation of early preneoplastic lesions.

Animals↗

PubMedDate not supplied

Renal abnormalities in patients with sickle cell-beta thalassemia.

We examined renal abnormalities in Greek patients with sickle-cell beta thalassemia (S-beta thal). A total of 17 patients aged 16-59 years suffering from S-beta thal and 17 age- and sex-matched healthy controls were studied. In all individuals we carried out a detailed study of renal function including electrolytes in serum and urine, concentrating or diluting ability, urine acidification ability, glomerular filtration rate (GFR), and hormones [such as plasma renin activity (PRA), serum aldosterone, and erythropoietin (EPO)]. Though the GFR did not differ significantly in patients and controls, half the patients had either supranormal or subnormal values. Serum potassium and uric acid were significantly higher in patients than controls. Serum phosphorus was similar in both groups, though patients with S-beta thal had significantly lower phosphate excretion indices. All patients were unable to maximally concentrate the urine, and seven also had limited ability to maximally dilute it. Five patients had incomplete distal renal tubular acidosis. Four had mild proteinuria, and six had microalbuminuria. Serum EPO and aldosterone were higher in S-beta thal patients than controls, but there was no difference in PRA between the two groups. There was a strong correlation between hemoglobin concentration and EPO levels, which was strongest in patients with GFR < 50 ml/min. We conclude that patients with S-beta thal, like sickle-cell anemia patients, present multiple abnormalities of renal function.

Adolescent↗

PubMedDate not supplied

Comparison of magnetic resonance imaging and ultrasonography in the prenatal diagnosis of congenital thoracic abnormalities.

OBJECTIVES: To evaluate prenatal MRI in the diagnosis of fetal thoracic abnormalities and to determine whether MRI provides useful information in addition to that of ultrasonography (US). METHODS: Ultrafast MR scanning was performed in 7 pregnant women in whom US was suspicious of fetal congenital anomalies of the thorax [3 cases of congenital diaphragmatic hernia (CDH), 3 cases of chylothorax and 1 case of congenital cystic adenomatoid malformation (CCAM) type III]. The presence, position, size and characteristics of the congenital lesions were determined and compared with postnatal diagnoses. RESULTS: The MRI diagnoses were 3 cases of CDH, 2 of chylothorax and one each of esophageal atresia and CCAM type III. The results of MRI were in agreement with those of US in 6 cases and in disagreement in 1 case of esophageal atresia. Final diagnoses were confirmed at surgery or autopsy in all fetuses. Combined use of MR and US imaging enabled a correct diagnosis in 5 cases and led to an error in the diagnosis of 1 fetus with bronchial stenosis, which had been diagnosed as CCAM type III by US and MRI. MRI led to a correct diagnosis in 1 fetus with esophageal atresia, in whom US had been equivocal in the prenatal diagnosis. CONCLUSION: MRI helped further characterize the fetal thoracic lesions and confirmed or changed the prenatal diagnosis based on US. MRI seems to be powerful in the prenatal diagnosis of thoracic lesions that are atypical or complicated by multiple abnormalities.

Adult↗

PubMed1994

Plasma levels and urinary excretion of fibrinolytic and protease inhibitory proteins in nephrotic syndrome.

Nephrotic syndrome is associated with numerous blood coagulation abnormalities and a marked propensity to thromboembolism. The present study was undertaken to examine the status of the fibrinolytic system in this hypercoagulable state. We measured the antigen concentrations or activities of plasminogen, tissue-type plasminogen activator (t-PA), plasminogen activator inhibitor (PAI), alpha 2-antiplasmin, alpha 1-antitrypsin, and alpha 2-macroglobulin as well as total antiplasmin activity and D-dimer concentration in the plasma of 39 patients with nephrotic syndrome and 32 normal controls subjects. In addition, antigen concentrations of plasminogen, alpha 2-antiplasmin, alpha 1-antitrypsin, and alpha 2-macroglobulin were measured in the urine of the study populations. The nephrotic group showed marked elevations of plasma t-PA, plasminogen, alpha 2-macroglobulin, and D-dimer and a significant reduction of plasma alpha 2-antiplasmin and alpha 1-antitrypsin as compared with the normal control group. Plasma alpha 2-macroglobulin was directly related to 24-hour urinary protein excretion and inversely related to serum albumin concentration. None of the proteins measured were detectable in the urine of normal controls. However, substantial amounts of plasminogen, alpha 2-antiplasmin, and alpha 1-antitrypsin and small amounts of alpha 2-macroglobulin were recovered in the urine of patients with nephrotic syndrome. Despite the lack of clinically demonstrable thrombosis, plasma D-dimer was markedly elevated in the nephrotic group, suggesting concurrent activation of coagulation and fibrinolytic pathways. In addition, the study revealed multiple abnormalities of the plasma fibrinolytic proteins and documented their urinary excretion in patients with nephrotic syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

PubMedDate not supplied

Lumbosacral spine imaging: physioanatomic method.

Noninvasive evaluation of low back and leg pain has progressed rapidly over the past decade. The development of computed tomography, single-photon emission-computed tomographic bone scan, and magnetic resonance imaging has markedly increased diagnostic accuracy in detecting pathologic conditions. With this increased accuracy has come recognition of a 50% prevalence of underlying abnormalities in patients between 20 and 60 years old who have no symptoms. When such patients have a back injury, subsequent imaging will show in half of the population studied abnormalities that are not related to an acute injury. Degeneration of the spine progresses in all patients throughout their lifetime, and nearly all of the population will have back discomfort at some time. Political- and judicial-based compensation for back injuries related to accidents and on-the-job injuries provides an incentive for patients not to improve on therapy and to exaggerate symptoms, further complicating the clinical evaluation of their condition. The goal of physioanatomic noninvasive and invasive imaging evaluation presented in the following chapters is to increase specificity by differentiating pain generators from asymptomatic underlying pathologic conditions. When used with intensive conservative management and psychologic testing, this physioanatomic approach has resulted in much better treatment outcomes in our experience. The physioanatomic approach is quite simple, consisting of rigorous correlation of pathologic changes demonstrated by noninvasive imaging modalities (computed tomography, single-photon emission-computed tomographic bone scan, and magnetic resonance), or invasive modalities (diskography-enhanced computed tomography, nerve root block and facet block) with the patient's symptoms to evaluate whether the symptoms and the pathologic lesion are concordant or discordant. Patient symptoms and history are evaluated by use of a pain drawing and information sheet. The patient's pain pattern is categorized into a nonspecific pattern or into one of four recognizable pathway patterns (radicular, dorsal ramus, polyneuropathy, and sympathetic). Because each spinal lesion is typically manifested primarily via one of the four symptom pathways, the distribution of expected symptoms from each pathologic feature can be compared with the patient's pain drawing, and an assessment of the significance of imaged lesions can be made. The patient's presenting symptoms are also used to determine the most cost-effective and efficacious use of initial diagnostic imaging evaluation. In a minority of patients the findings on noninvasive imaging either will not correlate with the patient's symptoms or will demonstrate multiple abnormalities that could account for the patient's symptoms. In these patients, invasive techniques are extremely helpful in defining a pain generator or pain generators.(ABSTRACT TRUNCATED AT 400 WORDS)

Absorptiometry, Photon↗

PubMed2026

PHACE syndrome: a systematic literature review and illustrative case report of a patient with severe cerebrovascular and neurodevelopmental sequelae.

BACKGROUND: PHACE syndrome is a rare neurocutaneous disorder defined by the association of large segmental infantile hemangiomas of the head and neck with malformations of the posterior fossa, cerebral and cervical arteries, heart, eyes, and ventral midline structures. Although facial hemangiomas are often the presenting feature, the cerebrovascular, neurodevelopmental, and airway manifestations are responsible for the greatest long-term morbidity. METHODS: A systematic literature review was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, searching PubMed, Web of Science, EMBASE, and PsycINFO. After removal of duplicates and screening of 308 records, five studies meeting the inclusion criteria were retained for qualitative synthesis. We additionally present the case of a now 12-year-old girl with PHACE syndrome characterized by a left V1-distribution facial hemangioma, ocular abnormalities, multiple cerebrovascular venous and arterial malformations, neonatal intraventricular hemorrhage with hydrocephalus, and a subsequently diagnosed dural arteriovenous fistula requiring repeated embolization. RESULTS: The five included studies collectively describe epidemiology and early supportive care needs, long-term health outcomes and quality of life into adulthood, airway hemangioma prevalence and management, and the clinical spectrum of infantile hemangiomas with minimal or arrested growth (IH-MAG) as a cutaneous marker of PHACE syndrome. Across studies, cerebrovascular arteriopathy (72-91%) and facial hemangioma residua (> 90%) were the most consistent findings, while progressive arteriopathy, headaches, learning differences, and airway involvement emerged as the principal sources of long-term morbidity. The reported case illustrates an unusually severe cerebrovascular phenotype, including neonatal hemorrhagic hydrocephalus, dural venous sinus thrombosis, and a late dural arteriovenous fistula, culminating in ataxic cerebral palsy and mild intellectual disability. CONCLUSIONS: PHACE syndrome requires a multidisciplinary, lifelong follow-up strategy. The presented case underscores that cerebrovascular complications may evolve over years to decades after the initial diagnosis, reinforcing the need for long-term neuroradiological surveillance even after apparent clinical stability.

Humans↗

PubMed2002

Upregulated survivin expression in activated T lymphocytes correlates with disease activity in multiple sclerosis.

Programmed cell death (apoptosis) is critical for the normal development and homeostasis of the immune system. There is emerging evidence that failure of apoptosis to eliminate potentially pathogenic, autoreactive T lymphocytes may be involved in the pathogenesis of multiple sclerosis (MS). This failure is related to multiple abnormalities of apoptosis-regulatory molecules that involve survivin, a recently described cell cycle-regulated anti-apoptosis protein. In this study, we investigated the relationship between survivin expression in peripheral T lymphocytes and clinical features of MS. We detected a significant over-expression of survivin in mitogen stimulated T lymphocytes from patients with active MS when compared with corresponding expression in patients with stable MS or those with inflammatory and non-inflammatory neurologic disorders. This over-expression of survivin in patients with active MS correlated with cellular resistance to apoptosis and with features of disease activity, such as disease duration and the number of enhanced lesions on cranial magnetic resonance imaging. There was no correlation between cellular survivin levels and the expression of other apoptosis-inhibitory proteins, such as Bcl-2 and Fas-associated death domain-like interleukin-1beta-converting enzyme inhibitory protein (FLIP). Our findings indicate that cellular over-expression of the novel anti-apoptosis protein survivin is a feature of clinically active MS.

Age of Onset↗

PubMed1987

Retinal dystrophy in Jeune's syndrome.

Jeune's syndrome is an autosomal-recessive condition characterized by multiple organ abnormalities, the most severe of which affect the skeleton, kidneys, and eyes. Severe respiratory insufficiency frequently results in death in infancy, but several patients have been reported to survive to adulthood. For this reason the prognosis for patients with ocular abnormalities is of interest in counseling families. We report a sibship of two patients who showed evidence for progression by visual field and electroretinogram testing when followed up over 3.7 years. Progressive electroretinographic abnormalities consisted of the following: progressive decrease in responses mediated by dark-adapted rods and both dark- and light-adapted cones in the first patient and progressive increase in b-wave implicit time elicited by 30-Hz flicker stimulation in the second patient.

Abnormalities, Multiple↗

PubMed1987

A histological study of the temporal bones and the nose in Wolf-Hirschhorn syndrome.

We report the histopathological findings of the temporal bones and the nasal and paranasal specimen of a 7-month-old girl diagnosed as having Wolf-Hirschhorn or 4p- syndrome (deletion of the short arm of chromosome 4). This syndrome is characterized by growth retardation, mental retardation, and multiple congenital abnormalities, including craniofacial anomalies and hearing disturbance. These temporal bones displayed malformation of the ossicles, absence of the oval windows, abnormal course of the facial nerve with incomplete bony canal, and depression of the cochlear duct and the saccule. In addition, cholesteatoma, which might be of congenital origin, was present behind the eardrum. The nasal and paranasal specimen showed bilateral complete cleft palate with normal development of paranasal sinuses, nasal septum, and conchae.

Abnormalities, Multiple↗

PubMed1998

Cat-scratch disease in a child with unique magnetic resonance imaging findings.

OBJECTIVE: To report a patient with cat-scratch disease and the associated radiological findings. PATIENT: A previously health 10-year-old boy presenting with fever and joint pain. RESULTS: The presence of multiple abnormal foci in the bone marrow were noted by magnetic resonance imaging. There was no correlation with either radionuclide or conventional radiographic imaging findings. The patient's condition was diagnosed as cat-scratch disease by the demonstration of elevated antibody titers to the causative organism, Bartonella (formerly Rochalimaea) henselae. CONCLUSION: Magnetic resonance imaging may be more sensitive to the early bone marrow changes that can occur with cat-scratch disease than either radionuclide bone scan or computed tomography.

Antibodies, Bacterial↗

PubMed1973

Cyclopia.

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Abnormalities, Drug-Induced↗