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At least 937 records · Page 52Linked to original sources
PubMed1990

Mapping of a gene determining tuberous sclerosis to human chromosome 11q14-11q23.

Tuberous sclerosis (TSC) is a dominantly inherited disorder characterized by hamartomas and hamartias in one or more organs, most often in skin, brain, and kidneys. Analysis of the basic genetic defect in tuberous sclerosis would be greatly expedited by definitive determination of the chromosomal location of the TSC gene or genes. We have carried out genetic linkage studies in 15 TSC families, using 34 polymorphic markers including protein markers and DNA markers. Pairwise lod scores were calculated using LIPED, and multipoint analyses were carried out using MENDEL. In the pairwise linkage analysis, using a penetrance value of 90%, a significant positive lod score was obtained with MCT128.1 (D11S144), 11q22-11q23, Zmax 3.26 at theta = 0.08. The tyrosinase probe TYR (11q14-11q22) gave a maximum lod score of 2.88 at theta = 0. In the multipoint analyses the most likely order is (TYR,TSC)-MCT128.1-HHH172. Homogeneity analysis was carried out using the USERM9 subprogram of MENDEL, which conducts the admixture test of C. Smith (1963, Ann. Hum. Genet. 27: 175-182). This test provided no evidence for genetic heterogeneity (that is, non-11-linked families) in this data set.

Alleles↗
PubMedDate not supplied

Multifocal angiomyolipoma in a patient with tuberous sclerosis.

Angiomyolipomas are rare lesions that occur most commonly in the kidney, but also can occur in the liver and rarely, in the lymph nodes. Its rare association with tuberous sclerosis has been suggested, but never proved. We report a patient with multiple visceral angiomyolipomas as well as visceral vessel aneurysms and tuberous sclerosis. The association of the three lesions suggests a possible common connective-tissue defect.

Adult↗
PubMed2004

The novel pathway for ketodiene oxylipin biosynthesis in Jerusalem artichoke (Helianthus tuberosus) tubers.

The new route of the plant lipoxygenase pathway, directed specifically towards the ketodiene formation, was detected during in vitro experiments with Jerusalem artichoke (Helianthus tuberosus) tubers. Through this pathway (9Z,11E,13S)-13-hydroperoxy-9,11-octadecadienoic acid (13-HPOD) is reduced to corresponding 13-hydroxy acid (13-HOD), which is in turn dehydrogenated into ketodiene (9Z,11E,13S)-13-oxo-9,11-octadecadienoic acid (13-KOD). Dehydrogenation of 13-HOD into 13-KOD was not dependent on the presence of either NAD or NADP, but was strongly dependent on the presence of oxygen. Under anoxic conditions, 13-HOD dehydrogenation was blocked, but addition of 2,6-dichlorophenolindophenol restored it. Sulfite addition fully suppressed the aerobic dehydrogenation of 13-HOD. Hydrogen peroxide is a by-product formed by the enzyme along with 13-KOD. These data suggest that the ketodiene biosynthesis in H. tuberosus tubers is catalyzed by flavin dehydrogenase. (9S,10E,12Z)-9-Hydroxy-10,12-octadecadienoic acid (9-HOD) is dehydrogenated by this enzyme as effectively as 13-HOD, while alpha-ketol, (9Z)-12-oxo-13-hydroxy-9-octadecenoic acid, and ricinoleic acid did not act as substrates for dehydrogenase. The enzyme was soluble and possessed a pH optimum at pH 7.0-9.0. The only 13-HOD dehydrogenase known so far was detected in rat colon. However, unlike the H. tuberosus enzyme, the rat dehydrogenase is NAD-dependent.

Animals↗
PubMed2006

Tuberous sclerosis complex and hydrosyringomielia: Report of two cases.

Two patients with typical tuberous sclerosis complex (TSC) associated with cervical or dorsal-lumbar hydrosyringomielia are described for the first time. Syringomielic cavities are small in extension in both cases, leading to significant clinical symptoms as bilateral pes cavus and scoliosis in one patient only. So far, tuberous sclerosis had not been reported to involve primarily the spinal cord, and other factors directly linked to syringomiely are not present in both these patients.

Adolescent↗
PubMed2005

Regulation of uncoupling protein activity in phosphorylating potato tuber mitochondria.

In isolated potato tuber mitochondria, palmitic acid (PA) can induce a H+ leak inhibited by GTP in the phosphorylating (state 3) respiration but not in the resting (state 4) respiration. The PA-induced H+ leak is constant when state 3 respiration is decreased by an inhibition of the succinate uptake with n-butyl malonate (nBM). We show that the efficiency of inhibition by GTP is decreased when state 3 respiration is progressively inhibited by antimycin A (AA) and is restored following subsequent addition of nBM. We propose that in phosphorylating potato tuber mitochondria, the redox state of ubiquinone, which can antagonistically be varied with AA and nBM, modulates inhibition of the PA-activated UCP-sustained H+ leak by GTP.

Cell Respiration↗
PubMed2006

Quantitative determination of eight components in rhizome (Jianghuang) and tuberous root (Yujin) of Curcuma longa using pressurized liquid extraction and gas chromatography-mass spectrometry.

Curcuma longa (Zingiberaceae) is a native plant of southern Asia and is cultivated extensively throughout the warmer parts of the world. Jianghuang and Yujin are rhizome and tuberous root of C. longa, respectively, which were traditionally used as two Chinese medicines. In this paper, pressurized liquid extraction (PLE) and gas chromatography-mass spectrometry (GC-MS) were developed for quantitative determination/estimation of eight characteristic compounds including beta-caryophyllene, ar-curcumene, zingiberene, beta-bisabolene, beta-sesquiphellandrenendrene, ar-turmerone, alpha-turmerone and beta-turmerone in Jianghuang and Yujin. A HP-5MS capillary column (30 m x 0.25 mm i.d.) coated with 0.25 microm film 5% phenyl methyl siloxane was used for separation and selected ion monitoring (SIM) method was used for quantitation. Hierarchical cluster analysis based on characteristics of eight identified peaks in GC-MS profiles showed that 10 samples were divided into two main clusters, Jianghuang and Yujin, respectively. Four components such as ar-curcumene, ar-turmerone, alpha-turmerone and beta-turmerone were optimized as markers for quality control of rhizome (Jianghuang) and tuberous root (Yujin), which are two traditional Chinese medicines, from Curcuma longa.

Chromatography, High Pressure Liquid↗
PubMed2005

Fibrolipomatous hamartoma in a patient with tuberous sclerosis: report of a case.

Tuberous sclerosis is a rare congenital disorder with an incidence of 1 in 6000 births. The classic triad is seizure, mental deficiency, and angiofibromas. Orofacial manifestations include fibrous hyperplasia, hemangioma, bifid uvula, cleft lip and palate, macroglossia, high arched palate, and enamel defects. Benign tumors of the jaws including desmoplastic fibroma, calcifying odontogenic tumor, and odontogenic myxoma have been recently reported in tuberous sclerosis. This case report adds fibrolipomatous hamartoma of the mandible to this list.

Adipocytes↗
PubMed2002

Spontaneous regression of retinal astrocytic hamartoma in a patient with tuberous sclerosis.

PURPOSE: To report the complete regression of a retinal astrocytic hamartoma in conjunction with tuberous sclerosis. DESIGN: Observational case report. METHODS: A 12-year-old boy with tuberous sclerosis, diagnosed early in life, was found to have a retinal astrocytic hamartoma in his left eye. He had bilateral optic atrophy because of long-standing increased intracranial pressure due to a cerebral giant cell astrocytoma. He was followed on a yearly basis with fundus photography and fluorescein angiography. RESULTS: At the time of initial presentation, the minimally elevated intraretinal tumor measured 2 x 1.5 mm. A year later, the same tumor measured 1.5 x 1 mm. Two years after initial presentation, the tumor totally disappeared. CONCLUSION: This patient has demonstrated that retinal astrocytic hamartoma may undergo spontaneous regression.

Astrocytes↗
PubMed2000

Adenocarcinoma of the rectum with associated colorectal adenomatous polyps in tuberous sclerosis: a case report.

The authors present the case of a 17-year-old girl with tuberous sclerosis (TS) who presented with symptoms of intussusception. Although endoscopically diagnosed with multiple colonic polyps, presumed to be hamartomas, and an invasive rectal adenocarcinoma, postoperative pathology findings confirmed the rectal cancer and showed multiple colonic adenomas. Multiple colonic adenomatous polyps in a young girl with tuberous sclerosis is extremely rare. Furthermore, we believe that this is the first report of an invasive adenocarcinoma of the large intestine occurring in a patient with TS.

Adenocarcinoma↗
PubMed1993

Early presentation of tuberous sclerosis as bilateral renal cysts.

We report on an infant in whom bilateral renal cysts were the only initial manifestation of tuberous sclerosis. We review the reported cases of infants with this association and emphasize that tuberous sclerosis can present in infancy as bilateral renal cystic disease. The role of the kidney biopsy in providing the correct diagnosis is discussed.

Female↗
PubMed1987

Renal lesions in tuberous sclerosis.

The renal lesion classically associated with tuberous sclerosis is angiomyolipoma. Renal cysts are less frequent, occurring alone or in conjunction with angiomyolipomas. We reviewed the records of 274 patients with tuberous sclerosis registered at our clinic. Of 95 patients evaluated for renal lesions 51 (54 per cent) had positive findings: 45 had angiomyolipomas, 17 had renal cysts and 11 had both lesions. These lesions usually are multiple and bilateral, and are diagnosed most effectively with computerized tomography or ultrasound. Surgery (10 kidneys) was done for life-threatening hemorrhage or suspected malignant lesions.

Adolescent↗
PubMed1986

Renal cell carcinoma and angiomyolipoma in tuberous sclerosis: case report.

We report a case of renal failure in a solitary kidney with manifestation of tuberous sclerosis, synchronous renal cell carcinoma and angiolipomatosis. A review of the literature disclosed the rare coexistence of these 2 tumors in tuberous sclerosis and the diagnostic difficulties in distinguishing these neoplasms.

Adult↗
PubMed1999

Pulmonary angiomyolipoma and multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis.

A 36-year-old woman with a long-standing diagnosis of tuberous sclerosis was found dead. A yellow-tan 0.4 cm-diameter pulmonary tumor was identified at autopsy which had typical microscopic features of an angiomyolipoma (AML). Immunohistochemical stains showed reactivity for actin, but not HMB-45, Melan-A, and tyrosinase (despite reactivity of the patient's renal AML for HMB-45 and Melan-A), perhaps owing to the small size of the lesion and the sometimes focal nature of the reactivity for these markers. Additional lung nodules proved to be multifocal micronodular pneumocyte hyperplasia. This report highlights the first occurrence of a pulmonary angiomyolipoma in the setting of tuberous sclerosis.

Adult↗
PubMed2001

Giant bilateral renal angiomyolipomas associated with tuberous sclerosis.

Renal angiomyolipomas in patients with tuberous sclerosis can be associated with significant morbidity, mostly related to complications from bleeding. We describe a patient with tuberous sclerosis and massive bilateral renal angiomyolipomas (total tumor burden 5500 g) who presented with acute right renal hemorrhage. She was treated with right renal artery embolization followed immediately by right nephrectomy and left partial nephrectomy. The patient had a creatinine nadir of 1.3 mg/dL postoperatively. We demonstrate that nephron-sparing surgery is feasible, even in the setting of very large angiomyolipomas, such as the one presented here, currently the largest such tumor by weight reported.

Adult↗
PubMed1987

Evidence that the gene for tuberous sclerosis is on chromosome 9.

Linkage analysis was undertaken in nineteen families with tuberous sclerosis by use of 26 polymorphic markers. All affected members fulfilled strict diagnostic criteria and unaffected members were rigorously investigated to confirm their status. Maximum lod scores were 1.20 for adenylate kinase 1 (AK1) at zero recombination and 3.85 for the ABO blood group at zero recombination (confidence limits 0-0.10). These findings support the assignment of the gene for tuberous sclerosis to the distal long arm of chromosome 9.

Adenylate Kinase↗
PubMed2005

[Imaging of CNS manifestations of tuberous sclerosis in children].

Tuberous sclerosis (TS) is a frequent phakomatosis, with autosomal dominant transmission. The diagnosis relies on a list of criteria (2 major criteria or 1 major criterion and 2 minor criteria). Brain MRI is very important for diagnosis, already showing the major signs during fetal life: subependymal nodules, tubers and giant cell astrocytomas. In childhood, FLAIR sequences are the more interesting while in fetuses, neonates and infants T1 sequences are required because of the myelination process.

Brain↗
PubMed1999

Invasive giant cell astrocytoma of the retina in a patient with tuberous sclerosis.

OBJECTIVE: To report an unusual case of giant cell astrocytoma of the retina. DESIGN: Case report. INTERVENTION: A 10-month-old girl with tuberous sclerosis was found to have bilateral astrocytic hamartomas, the right eye being prominently involved by elevated and pedunculated lesions. At 7 years of age, she had posterior subcapsular cataract, retinal detachment, and subretinal exudation develop in the right eye. At 12 years of age, her blind, painful right eye had to be enucleated because of neovascular glaucoma and a spontaneous scleral perforation. RESULTS: Histopathologic examination showed that the entire vitreous cavity was filled with a mixture of tumor, granulation tissue, and necrotic debris. Part of the tumor was composed of spindle-shaped glial cells. The remainder was composed of large gemistocytic cells that contained large atypical nuclei and copious amounts of cytoplasm, which was intensely eosinophilic in some areas. The tumor contained foci of necrosis and rare mitotic figures. It had infiltrated the parenchyma of the retrolaminar nerve and extended to the surgical margin. Areas of unequivocal choroidal invasion were also identified. The tumor cells were intensely immunoreactive for neuron-specific enolase and S-100 protein. In contrast, glial fibrillary acidic protein was only minimally positive. CONCLUSIONS: The histologic and immunohistochemical features of this retinal tumor resemble those of subependymal giant cell astrocytoma, a characteristic lesion in tuberous sclerosis. Although this unusual giant cell astrocytoma of the retina had atypical histopathologic features and local aggressive behavior, the systemic prognosis was excellent.

Astrocytoma↗