Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “tuber”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,063 records · Page 59Linked to original sources
PubMed2001

Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis.

Lymphangioleiomyomatosis (LAM) and multifocal micronodular pneumocyte hyperplasia (MMPH) produce cystic and nodular disease, respectively, in the lungs of patients with tuberous sclerosis. The objective of this study was to prospectively characterize the prevalence, clinical presentation, and genetic basis of lung disease in TSC. We performed genotyping and computerized tomographic (CT) scanning of the chest on 23 asymptomatic women with tuberous sclerosis complex (TSC). Cystic pulmonary parenchymal changes consistent with LAM were found in nine patients (39%). These patients tended to be older than cyst-negative patients (31.9 +/- 7.6 yr versus 24.8 +/- 11.6 yr, p = 0.09). There was no correlation between presence of cysts and tobacco use, age at menarche, history of pregnancy, or estrogen-containing medications. Three of the cyst-positive patients had a prior history of pneumothorax. Pulmonary function studies revealed evidence of gas trapping but normal spirometric indices in the cyst-positive group. All nine cyst-positive patients had angiomyolipomas (AML), which were larger (p < 0.05) and more frequently required intervention (p = 0.08) than cyst-negative patients (8 of 14 with AMLs, p < 0.05). Ten patients (43%) had pulmonary parenchymal nodules. Pulmonary nodules were more common in women with cysts (78% versus 21%, p < 0.05), and 52% of all patients had either cystic or nodular changes. TSC2 mutations were identified in all cyst-positive patients who were tested (n = 8), whereas both TSC1 and TSC2 mutations were found in patients with nodular disease. Correlation of the mutational and radiographic data revealed one pair of sisters who were discordant for cystic disease, two mother- daughter pairs who were discordant for nodular disease, and no clear association between cyst development and a specific mutational type. This prospective analysis demonstrates that cystic and nodular pulmonary changes consistent with LAM and MMPH are common in women with TSC.

Adolescent↗
PubMed1986

Management of facial angiofibromas in tuberous sclerosis: use of the carbon dioxide laser.

Facial angiofibromas are estimated to occur in 90% of patients with tuberous sclerosis and can cause considerable cosmetic disfigurement, emotional distress, obstruction of vision, and hemorrhage when abraded. Postoperative wound management associated with skin grafting and dermabrasion is often difficult because patients are mentally retarded and noncooperative. Three patients with extensive facial angiofibromas were treated successfully with the carbon dioxide (CO2) laser, with follow-up period ranging from 8 to 48 months. Uncomplicated wound healing occurred in each patient with minimal recurrence of lesions. Ablation with the CO2 laser is our treatment of choice for angiofibromas associated with tuberous sclerosis.

Adult↗
PubMed2002

Hemimegalencephaly in tuberous sclerosis complex.

The purpose of this case report is to describe the computed tomographic and magnetic resonance imaging findings of the brain of a 16-month-old girl with an uncommon association between hemimegalencephaly and tuberous sclerosis complex. When a large calcification is found within a hemimegalencephalic cerebral hemisphere, further investigation of a suspected associated tuberous sclerosis complex or another phakomatosis is required to determine pertinent treatment options and genetic counseling.

Cerebral Cortex↗
PubMed2004

Non-neurologic manifestations of tuberous sclerosis complex.

Tuberous sclerosis complex is a heterogeneous genetic disorder affecting multiple organ systems at various points throughout the lifespan. Increasingly, neurologically asymptomatic adults are being diagnosed with tuberous sclerosis complex through renal or pulmonary presentations. Although chiefly recognized for its cerebral manifestations, understanding of the non-neurologic aspects of the disorder has advanced greatly in recent years, and they are reviewed here.

Adult↗
PubMed1988

Fibrous dysplasia in a patient with tuberous sclerosis.

Though osseous abnormalities are associated with tuberous sclerosis, involvement of the skull base and orbit has not been reported. We describe a patient with superior displacement of the orbit and proptosis that were due to sphenoid hyperplasia and sclerosis characteristic of fibrous dysplasia. A pelvic osteosclerotic lesion suggested polyostotic involvement. The bony abnormalities implied neither concurrent neurofibromatosis nor McCune-Albright syndrome in this patient with tuberous sclerosis.

Child↗
PubMed1998

Early diagnosis of subependymal giant cell astrocytoma in patients with tuberous sclerosis.

We present 19 patients with tuberous sclerosis complex and subependymal giant cell astrocytoma. The mean age at the time of tumor diagnosis was 9.4 years (range, 1.5 to 21 years). Computed cranial tomography (CT) or cranial magnetic resonance imaging (MRI) identified the lesion which was resected in all cases. Seven patients had hydrocephalus and there was an interval increase in the tumor size or a large tumor without hydrocephalus in 12 patients. Surgical criteria included: (1) presence of hydrocephalus; (2) interval increase in tumor size; (3) new focal neurologic deficit attributable to the tumor; and/or (4) symptoms of increased intracranial pressure. Eight patients were identified through a surveillance program involving annual computed cranial tomography. All of these eight patients had their tumor removed prior to the development of symptoms, none had neurologic deficits which persisted after surgery, and none has so far developed recurrent subependymal giant cell astrocytoma. In contrast, of the 11 patients from the non-surveillance group 7 were symptomatic at tumor diagnosis, 1 had a complicated postoperative course, 2 developed recurrent giant cell astrocytoma, and 1 had an extensive lesion that could not be completely excised. Periodic cranial imaging may help to identify subependymal giant cell astrocytomas in tuberous sclerosis patients before they become symptomatic. Earlier diagnosis and treatment could reduce surgical morbidity and the risk of tumor recurrence.

Adolescent↗
PubMed1996

Progesterone treatment in chylothorax associated with pulmonary tuberous sclerosis.

We report the case of a young woman with tuberous sclerosis who developed a chylous pleural effusion after several invasive procedures for treatment of recurring pneumothoraces. Oophorectomy was rejected by the patient and progesterone therapy initiated. Medroxyprogesterone acetate administration led to a complete disappearance of the chylothorax in 8 months. The patient was kept on therapy, and no recurrence of pleural effusion has been observed up to the present (22 months follow-up). However, a progressive deterioration in pulmonary function was observed, with a significant decrease in pulmonary transfer factor and increase in airway obstruction. In conclusion, this report demonstrates an objective benefit of progesterone therapy on chylous effusion associated with pulmonary tuberous sclerosis.

Adult↗
PubMed1987

Tuberous sclerosis and the autistic syndrome.

A case of tuberous sclerosis presenting with autistic behaviour is described. Although tuberous sclerosis is a rare cause of the autistic syndrome, it should be more strongly suspected when autistic behaviour is associated with seizures in a young child.

Autistic Disorder↗
PubMed2005

Identification of candidates for epilepsy surgery in patients with tuberous sclerosis.

The authors reviewed preoperative MRI and EEG findings in relation to postsurgical outcome in 17 patients with refractory epilepsy due to tuberous sclerosis complex (TSC). Resecting concordant MRI (main tuber) and EEG abnormalities offered seizure freedom (8/9, 89%; median follow-up 25 months) comparable to other focal etiologies. Patients with nonconcordant MRI and EEG findings did less well (3/8, 38%, seizure free; p = 0.027, OR = 13).

Adolescent↗
PubMed1985

Tuberous sclerosis with cardiogenic cerebral embolism: magnetic resonance imaging.

A girl with tuberous sclerosis and intracardiac masses had at least two episodes of cardiogenic cerebral embolization, the attacks characterized by acute onset of prolonged neurologic dysfunction arising from different vascular distributions in both cerebral hemispheres. Renal embolization was suggested by hematuria. Magnetic resonance imaging (MRI) demonstrated ischemic lesions in cerebral locations predicted by the clinical signs. MRI also demonstrated extensive areas compatible with the dysmyelination of tuberous sclerosis.

Female↗
PubMed2001

Tongue-base hamartoma in tuberous sclerosis.

This paper describes the case of a 41-year-old female with tuberous sclerosis who presented with a large tongue-base hamartoma. The surgical management of the patient was complicated by the presence of a large thyroid goitre. Awake fibre-optic intubation, thyroidectomy then tracheostomy were necessary before the tongue-base hamartoma could be safely resected. To the best of our knowledge, this is the first reported case of a tongue-base hamartoma in a patient with tuberous sclerosis.

Adult↗
PubMed2002

Relationship between the electrical and rheological properties of potato tuber tissue after various forms of processing.

The impedance at frequencies of 1-1000 kHz and dynamic bending storage modulus measured by the vibrating reed method were compared for potato tuber tissue, which had been processed by various methods. Raw potato tuber tissue strips were either heated for 30 min up to 100 degrees C or frozen-thawed. Some samples were osmotically dehydrated in a mannitol solution up to a concentration of 0.7 mol/l. The electrical reactance correlated well with the storage modulus of heated or frozen-thawed potato tissues, but not with the storage modulus of the mannitol-treated tissue. The storage modulus appeared to be strongly dependent on the turgor pressure of the cells which was drastically decreased by the heating, freezing-thawing, and osmotic treatments. The electrical properties reflect the cell integrity, and a large difference was observed between the change in impedance after heating or freezing-thawing, and that after the osmotic treatment. A significant change in the electric properties was also observed for a starch suspension at the gelatinization temperature. However, the contribution due to gelatinization did not appear to play an important role in the change of electrical properties of potato tissue by heating.

Desiccation↗
PubMed2005

Novel potato micro-tuber-inducing compound, (3R,6S)-6-hydroxylasiodiplodin, from a strain of Lasiodiplodia theobromae.

A novel potato micro-tuber-inducing compound was isolated from the culture broth of Lasiodiplodia theobromae Shimokita 2. The structure of the isolated compound was determined as (3R,6S)-6-hydroxylasiodiplodin by means of spectroscopic analyses, the modified Mosher method, and chemical conversion. The compound showed potato micro-tuber-inducing activity at a concentration of 10(-4) M, using the culture of single-node segments of potato stems in vitro.

Ascomycota↗
PubMed1979

Bronchial angiofibromata in a suspected case of tuberous sclerosis.

Widespread hamartomatous proliferations are often seen with tuberous sclerosis, yet pulmonary involvement is rare. We describe a patient with a probable forme fruste of tuberous sclerosis in whom the diagnosis of bronchial angiofibromata was made bronchoscopically. This is the first description of this pulmonary manifestation.

Adult↗
PubMed1985

Pulmonary lymphangiomyomatosis associated with tuberous sclerosis. Treatment with tamoxifen and tetracycline-pleurodesis.

A 44-year-old woman was seen with the clinical and histologic picture of lymphangiomyomatosis syndrome. She also had dermatologic and neurologic stigmata of tuberous sclerosis. After the development of a recurring chylothorax, she had a downhill course unresponsive to dietary, bronchodilator, corticosteroid and progesterone therapy. In an open lung specimen, the search for steroid receptor for estrogen was positive. The discovery in this case of an estrogen receptor represents important evidence for establishing an association between tuberous sclerosis and lymphangiomyomatosis. Tamoxifen therapy and tetracycline pleurodesis were successful in stopping the progressive course and controlling the chylothorax.

Adhesiveness↗
PubMedDate not supplied

Characterization of metabolic pathway of linoleic acid 9-hydroperoxide in cytosolic fraction of potato tubers and identification of reaction products.

Potato tubers are shown to contain a unique lipoxygenase pathway to form 9-hydroperoxy-10,12-octadecadienoic acid (9-HPODE) from linoleic acid. Here, we report the metabolic pathway of 9-HPODE in the cytosolic fraction and the characterization of enzymes involved in the conversion of metabolites. The analysis of enzymatic reaction products at pH 5.5 revealed the formation of 9-keto-10,12-octadecadienoic acid, 9-hydroxy-10,12-octadecadienoic acid, 9,10-epoxy-11-hydroxy-12-octadecenoic acid, 9,10,13-trihydroxy-11-octadecenoic acid, and 9,12,13-trihydroxy-10-octadecenoic acid. The cytosolic enzymes were separated by anion-exchange chromatography into two fractions E1 and E2, having molecular masses of 66 and 54 kDa, respectively. The enzyme fraction E1 only produced 9-keto-10,12-octadecadienoic acid, whereas E2 formed other products. The enzyme E1 showed higher reactivity with 13- and 9-hydroperoxide of alpha-linolenic acid than 9-HPODE, but no reaction with hydroxy fatty acids. In contrast, the enzyme E2 showed the highest reactivity with 9-HPODE, followed by hydroperoxides of alpha-linolenic acid and arachidonic acid. We also evaluated the antibacterial activity of hydroxy fatty acids against Erwinia carotovora T-29, a bacterium infecting potato tubers. Growth of the bacteria was suppressed more potently with 9- or 13-hydroxy fatty acids than dihydroxy or trihydroxy fatty acids, suggesting a role for the metabolites in the resistance of bacterial infection.

Chromatography, Gel↗
PubMed1991

[Massive intratumor hemorrhage in tuberous sclerosis. Autopsy study of a case].

A case of a 13-year-old boy with tuberous sclerosis manifested with the complete syndrome that died with a massive intratumoral hemorrhage is presented. The post mortem examination of the brain disclosed a massive left parenchymatous brain hemorrhage with intraventricular component. In the hemorrhage, near the lateral ventricle wall, a subependymal giant cell astrocytoma was found. This is the second case in the literature of tuberous sclerosis which cause of death was an intratumoral massive hemorrhage.

Adolescent↗
PubMed2003

Bilateral giant renal angiomyolipoma associated with hepatic lipoma in a patient with tuberous sclerosis.

OBJECTIVE: To report a case of bilateral giant renal angiomyolipoma associated with tuberous sclerosis, with successful treatment, and to review the literature concerning angiomyolipoma treatment. CASE REPORT: Patient with tuberous sclerosis and angiomyolipoma diagnosed by ultrasonography during her pregnancy. At that time, the angiomyolipoma on the right side was 9 cm in diameter. Conservative management was selected during her pregnancy. The patient returned 7 years later, with a 24.7 x 19.2 x 10.7 cm tumor on the right side and another of 13 x 11.5 x 6.5 cm on the left side, in addition to multiple small angiomyolipomas. A nephron-sparing surgery with tumoral enucleation was performed on the right side, and after 3 months, the tumor on the left side was removed. Renal function in the post-operative period was preserved, and contrast medium progression was uniform and adequate in both kidneys. CONCLUSION: We conclude that an angiomyolipoma larger than 4 cm should be removed surgically, since they have a greater growth rate and pose a risk of hemorrhage. Resection of smaller tumors is safe and has decreased morbidity. Tumoral enucleation is an effective treatment method that preserves kidney function.

Adult↗