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PubMed2003

Ion chromatography of phytate in roots and tubers.

The ion chromatographic method for the quantification of phytate (InsP(6)) in foods was adapted for the analysis of roots and tubers. To maximize sensitivity, ultraviolet (UV) detection following postcolumn derivatization was compared with evaporative light-scattering detection (ELSD). Detection limits for phytate were 0.5 and 1 microg for UV and ELSD, respectively. Unidentified peaks eluting close to and after InsP(6) were removed by solid-phase extraction. Phytate was detected in 11 of 15 roots or tubers. The highest phytate levels were 0.169 and 0.133% of the fresh weight of taro (Colocasia esculenta) and yuca (Manihot esculenta), respectively. Potatoes (Solanum tuberosum) contained 0.035-0.073% phytate, whereas no phytate at a detection limit of 0.003% of fresh weight was observed in sweet potatoes (Ipomoea batatas).

Chromatography↗
PubMed2006

Molecular properties and activities of tuber proteins from starch potato cv. Kuras.

Potato starch production leaves behind a huge amount of juice. This juice is rich in protein, which might be exploited for food, biotechnological, and pharmaceutical applications. In northern Europe cv. Kuras is dominant for industrial starch production, and juice protein of freshly harvested mature tubers was fractionated by Superdex 200 gel filtration. The fractions were subjected to selected activity assays (patatin, peroxidase, glyoxalases I and II, alpha-mannosidase, inhibition of trypsin, Fusarium protease, and alcalase) and protein subunit size determination by SDS-PAGE and mass spectrometry. Proteins present in SDS-PAGE bands were identified by tryptic peptide mass fingerprinting. Protein complexes such as ribosomes and proteasomes eluted with the void volume of the gel filtration. Large proteins were enzymes of starch synthesis dominated by starch phosphorylase L-1 (ca. 4% of total protein). Five identified dimeric patatin variants (25%) coeluted with four monomeric lipoxygenase variants (10%) at 97 kDa. Protease inhibitor I variants (4%) at 46 kDa (hexamer) inhibited alcalase. Fourteen Kunitz protease inhibitor variants (30%) at 19 kDa inhibited trypsin and Fusarium protease. Carboxypeptidase inhibitor variants (5%) and defensins (5%) coeluted with phenolics. The native sizes and molecular properties were determined for 43 different potato tuber proteins, several for the first time.

Electrophoresis, Polyacrylamide Gel↗
PubMed1995

A germline insertion in the tuberous sclerosis (Tsc2) gene gives rise to the Eker rat model of dominantly inherited cancer.

The Eker rat hereditary renal carcinoma (RC) is an excellent example of a mendelian dominant predisposition to a specific cancer in an experimental animal. We have previously established a new conserved linkage group on rat chromosome 10q and human chromosome 16p13.3, and shown that the Eker mutation is tightly linked to the tuberous sclerosis (Tsc2) gene. We now describe a germline mutation in the gene encoding Tsc2 caused by the insertion of an approximately 5 kilobase DNA fragment in the Eker rat, resulting in aberrant RNA expression from the mutant allele. The phenotype of tuberous sclerosis in humans differs from that of the Eker rat, except for the occurrence of renal tumours. The Eker rat may therefore provide insights into species-specific differences in tumourigenesis and/or phenotype-specific mutations.

Amino Acid Sequence↗
PubMed1994

Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients.

Tuberous sclerosis (TSC) is an autosomal dominant condition with characteristic skin lesions, mental handicap, seizures and the development of hamartomas in the brain, heart, kidneys and other organs. Linkage studies have shown locus heterogeneity with a TSC gene mapped to chromosome 9q34 and a second, recently identified on 16p13.3. We have analysed DNA markers in eight hamartomas and one tumour from TSC patients and found allele loss on 16p13.3 in three angiomyolipomas, one cardiac rhabdomyoma, one cortical tuber and one giant cell astrocytoma. We suggest that the TSC gene on 16p13.3 functions like a tumour suppressor gene, in accordance with Knudsen's hypothesis.

Alleles↗
PubMed2006

Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors.

Tuberous sclerosis complex is a genetic disorder characterized by hamartomatous lesions in multiple organs, frequently involving the kidney. We conducted a retrospective review of the clinical and radiographic records of 167 patients with tuberous sclerosis to determine the frequency of renal disease, the likelihood of significant renal morbidity, and the effects of genotype (TSC1 vs TSC2) and gender on renal phenotype. Renal lesions were seen in 57.5% of patients. Of these, angiomyolipoma (AML) occurred in 85.4%, cysts in 44.8%, and renal cell carcinoma in 4.2%. Both AML and cysts were significantly more common and more numerous in TSC2 than in TSC1. AML was significantly more common in female than in male patients, but cysts showed no correlation with gender. Eleven patients developed renal abnormalities during their care in this practice at an average age of onset of 11.3 years (range 3.8-23 years). The frequency and number of renal lesions were positively correlated with age. Interventions, including arterial embolization and nephrectomy, were performed in 11 (6.6%) patients. Among female patients with lymphangioleiomyomatosis, renal AML was universally present. Our findings confirm a high rate of renal involvement; a low rate of serious complications; significant associations between renal involvement, genotype, and gender; and a significant association between renal and pulmonary involvement in female patients.

Adolescent↗
PubMed1997

Multifocal alveolar hyperplasia associated with lymphangioleiomyomatosis in tuberous sclerosis.

Multifocal alveolar hyperplasia associated with pulmonary lymphangioleiomyomatosis is reported in a 21-year-old woman with tuberous sclerosis. Beside the cystic lesions of lymphangioleiomyomatosis, the tomography showed nodules up to 8 mm in both upper lobes. A proliferation of type II pneumonocytes and Clara cells lining the alveolar walls in an adenoma-like pattern was observed. Nuclear atypia, mitoses and necrosis were not observed, providing evidence against multicentric bronchioloalveolar carcinoma or micronodular atypical alveolar adenomatous hyperplasia. Whereas the lymphangioleiomyomatosis lesions showed strong positivity for HMB45 and expressed oestrogen and progesterone receptors, the alveolar hyperplasia was negative for these markers as it was for carcinoembryonic antigen, p53 and MIB1 antibodies. Multifocal alveolar hyperplasia in tuberous sclerosis is probably a benign hamartomatous lesion in our case without progression on a 2-year follow-up. Its histogenesis is unknown, but is possibly related to chromosome instability.

Adult↗
PubMed1998

Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance.

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by widespread cutaneous and visceral hamartomas. METHODS: The prevalence of cutaneous lesions in 106 children with TSC (47 boys and 59 girls) aged 1 month-18 years was evaluated from 1984 to 1995. Assessing the diagnostic usefulness of each National Tuberous Sclerosis Association skin criterion was an aim of this study. RESULTS: Hypopigmented macules were the most frequent finding, seen in 103 of 106 children (97.2%). In 66 children they were evident at birth, and in 20 others their presentation was delayed until the first months of age. Facial angiofibromas were seen next most often (79 of 103, 74.5%), followed by a shagreen patch in 51 of 103 (48.1%), "cafe-au-lait" macules in 30 of 103 (28.3%), molluscum fibrosum pendulum (24 of 103, 22.6%), a forehead fibrous plaque (20 of 103, 18.9%), periungual fibromas (16 of 103, 15.1%) and "confetti-like" macules (3 of 103, 2.8%). The hypomelanotic macules were seen within the first 2 years of life in 95 children, as were café-au-lait spots in 24, facial angiofibromas in eight, shagreen patches in six, and forehead fibrous plaques in six, whereas molluscum pendulum and periungual fibromas were not evident. Seizures were seen in 102 of 106 children (98%), with 80 (75%) occurring during the first year of life. CONCLUSIONS: Hypomelanotic macules were the overwhelmingly most common early finding in TSC. Infants with seizures or other possible stigmata of TSC should be carefully evaluated for these hypomelanotic macules, as well as for other associated findings.

Adolescent↗
PubMed2003

Hemimegalencephaly with tuberous sclerosis: a longitudinal imaging study.

Hemimegalencephaly is a rare cerebral malformation characterized by asymmetry of the hemispheres and cortical dysplasias. We report clinical and imaging findings in a child with hemimegalencephaly involving the right cerebral hemisphere with associated manifestations of tuberous sclerosis complex. Gross abnormal myelination pattern and gyral abnormalities were seen in the enlarged hemisphere. Subsequent scans showed atrophy of the frontoparietal region in the enlarged hemisphere and normal growth of the opposite hemisphere exceeding the size of the abnormal hemisphere in the frontoparietal region. A few white-matter lesions that were seen in the normal hemisphere on neonatal scan were difficult to appreciate on subsequent MR studies. The white-matter lesions were better seen in the neonatal period, whereas cortical tubers were better detected at a later age.

Cerebral Cortex↗
PubMed1998

Cardiac manifestations in tuberous sclerosis: a 10-year review.

OBJECTIVE: Tuberous sclerosis is a genetic disorder with multisystem involvement. The aim of this study was to focus primarily on the cardiac aspects of this condition. METHOD: This review included 10 children with tuberous sclerosis presenting to our department during a 10-year period. RESULTS: From our data, 80% were found to have cardiac involvement. There was an equal prevalence of neurologic complications. CONCLUSIONS: Cardiac tumours and seizures were the most common problems encountered. Whereas most patients had no symptoms referable to the cardiovascular system and required no active intervention, many of those with neurologic involvement needed appropriate treatment.

Brain↗
PubMed2002

Nephron-sparing tumorectomy for a large benign renal mass: a case of massive bilateral renal angiomyolipomas associated with tuberous sclerosis.

A case of massive bilateral angiomyolipomas (AML) associated with tuberous sclerosis in a 33-year-old woman is reported. She was hospitalized because she had been experiencing abdominal fullness and epigastralgia. Several imaging studies revealed massive bilateral renal tumors and she was diagnosed as having renal AML associated with tuberous sclerosis. Left nephrectomy was carried out after renal arterial embolization for intratumor hemorrhage. Two years after left nephrectomy, nephron-sparing surgery (tumorectomy) for right AML was done because of an increase in the size of the right renal AML and she hoped for a future pregnancy. The left kidney with AML weighed 5700 g and the right AML weighed 1700 g. Postoperative serous creatinine did not differ from that before operation and an increase in the size of the residual tumor was not observed 8 months after operation. We consider that tumorectomy is an effective therapy in patients with a very large tumor involving a solitary kidney.

Adult↗
PubMed1999

Prenatal detection of cerebral lesions in a fetus with tuberous sclerosis.

We report a newborn, diagnosed prenatally with both cardiac rhabdomyomas and a brain tumor. To the best of our knowledge, this is the first report of central nervous system (CNS) lesions detected prenatally in a child with tuberous sclerosis with term follow-up. At 36 months, the child has normal growth and is developing appropriately. Thus the finding of CNS tumors on fetal ultrasound examination can help in the prenatal diagnosis of tuberous sclerosis but does not necessarily indicate a poor prognosis.

Adult↗
PubMed2002

Use of CO2 laser in the treatment of periungual fibromas associated with tuberous sclerosis.

BACKGROUND: Tuberous sclerosis complex is an autosomal dominant disorder with variable clinical expression. In severe forms it may involve almost any organ system. Periungual fibromas are a common cutaneous manifestation and a frequent source of cosmetic and functional concern. Current treatment involves surgical excision of the lesions. OBJECTIVE: To evaluate laser vaporization of periungual fibromas and to compare results to the standard surgical treatment. METHODS: A patient with tuberous sclerosis and recurrent periungual fibromas was treated with a continuous wave CO2 laser in sequential focused and defocused modes at 10-15 W. RESULTS: Laser treatment required approximately 10 seconds per lesion and produced no intraoperative bleeding. The wounds healed well with good cosmetic results. CONCLUSION: Though similar to conventional surgery in terms of cosmetic satisfaction, CO2 laser presents a viable alternative to surgery through significantly reduced treatment time and amount of bleeding.

Carbon Dioxide↗
PubMed2006

Antitumoral activity of rapamycin in renal angiomyolipoma associated with tuberous sclerosis complex.

A 19-year old patient with tuberous sclerosis presented with a renal angiomyolipoma. Because animal trials of tuberous sclerosis showed an effect of rapamycin on renal tumors, our patient was administered rapamycin for 6 months. During this time, the renal angiomyolipoma shrank significantly, regrew during an 8-month period, and decreased in size again after readministration of rapamycin.

Adult↗
PubMed2006

Removal of potassium from tuberous root vegetables by leaching.

OBJECTIVES: To determine analytically the amount of potassium in raw tuberous root vegetables (TRV); to estimate the amount of potassium that can be leached from raw TRV by soaking in water; and to determine whether the duration of soaking and the cooking method selected affect potassium extraction. DESIGN: Fresh TRV (ie, fresh and sweet batata, cocomalanga, dasheen, eddo, black yam, white yam, yellow yam, yampi, malanga, red yautia, white yautia, and yuca) were obtained from an ethnic market. Five experimental conditions with variations in soak time and cooking method were applied. Potassium was extracted from the ash of dried samples. The potassium content of aqueous extractions was determined through atomic absorption spectrophotometry. RESULTS: Mean potassium content was highest in raw cocomalanga and lowest in raw dasheen. All of the raw TRV, except for dasheen, had a potassium content >200 mg (5.1 mEq)/100 g sample. Soaking was not effective in the leaching of significant amounts of potassium from most TRV. The double cooking (DC) method (ie, boil, rinse, boil again) leached more potassium from most TRV than did the normal cooking (NC) method (ie, boil), except with dasheen and yellow yam. More vegetables retained a potassium content >200 mg (5.1 mEq)/100 g following NC versus DC (92% versus 54%). CONCLUSIONS: The potassium content of raw TRV varied considerably, with most tubers retaining a moderate or high potassium content following the leaching procedures. However, this study showed that DC appears to be more effective than NC for leaching potassium from TRV.

Chronic Disease↗
PubMed1977

Cranial computertomography in children with tuberous sclerosis.

20 children with tuberous sclerosis were examined by computertomography (CCT). The test is useful to detect cerebral involvement with great certainty. The method is especially helpful in the early diagnosis of the disease. This offers the possibility of giving an early genetic advice. Characteristic CCT scan abnormalities in tuberous sclerosis are multiple densities in the walls and the roof of lateral ventricles. This specific finding can already be seen prior to the occurrence of calcifications in standard roentgenograms.

Adolescent↗
PubMed2001

Subependymal giant-cell astrocytoma in tuberous sclerosis: endoscopic images and the implications for therapy.

Supratentorial intraventricular tumors are not frequently encountered in childhood. One of the most frequent intraventricular glial tumors is the subependymal giant-cell astrocytoma, mostly associated with tuberous sclerosis. These tumors are diagnosed on computed tomography (CT) or magnetic resonance imaging (MRI) scans. They can occur isolated or multiple and operative resection is advised if these tumors cause symptoms, usually raised intracranial pressure due to obstructive hydrocephalus. However, the number of tumors can be much higher than seen on radiological examination making total resection of all tumors impossible. We demonstrate this with the endoscopic images derived during the endoscopic removal of a subependymal giant-cell astrocytoma obstructing a foramen of Monro in a 15-year-old boy with tuberous sclerosis.

Adolescent↗
PubMed2003

[Micronodular pneumocyte hyperplasia in pulmonary lymphangioleiomyomatosis and tuberous sclerosis].

An open lung biopsy was performed in a 28-year-old woman with tuberous sclerosis and with spontaneous pneumothorax and interstitial changes in the chest X-ray. Microscopically a micronodular pneumocyte hyperplasia in addition to a lymphangioleiomyomatosis was found. The micronodular pneumocyte hyperplasia is considered to be a very rare lesion. Only 27 well documented such cases have been recorded so far, 24 in women and 3 in men. The age of the patients ranged between 20 and 57 years, with an average of 36 years. The micronodular pneumocyte hyperplasia occurs mainly in patients with tuberous sclerosis (20 of 27 cases) and it is often combined with a lymphangioleiomyomatosis (19 cases). In the differential diagnosis the atypical adenomatous hyperplasia is to be considered in the first place. In contrast to it, the proliferating cells of the micronodular pneumocyte hyperplasia show no atypia. The differentiation from a papillary adenoma can be difficult in small biopsies.

Adult↗
PubMed2005

Maternal and fetal tuberous sclerosis complicating pregnancy: a case report and overview of the literature.

Tuberous sclerosis complex (TSC) is an autosomal-dominant phakomatosis that can result in cardiac and central nervous system lesions and may adversely impact fetal and maternal health. We report a case of a 19-year-old primagravida with TSC whose pregnancy was complicated by preeclampsia, preterm labor, and fetal demise. The fetus, also affected with TSC, was diagnosed with a cardiac rhabdomyoma on ultrasound at 24 gestational weeks and intracranial tubers on fetal magnetic resonance imaging at 26 gestational weeks. Hydrops fetalis developed in the 30th gestational week. Fetal demise occurred during induction of labor. A systematic review of the medical literature was conducted. Our objective was to quantify maternal and fetal morbidity and mortality associated with TSC. We identified 36 additional cases of fetal TSC with cardiac rhabdomyoma diagnosed prenatally. Including our case, we also identified 23 pregnancies (17 mothers) complicated by maternal TSC. Rates of complications are calculated. We conclude that pregnancies complicated by maternal or fetal TSC deserve careful vigilance. Although benign histologically, cardiac rhabdomyomas can result in fetal morbidity and mortality.

Adult↗