Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027651 (tumor)
 685,946 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 3-month-old boy with tuberous sclerosis was diagnosed of biventricular heart tumor by means of 2D-echocardiogram. Three masses of tumor were excised from the right ventricle with the aid of cardiopulmonary bypass. Pathologic examination disclosed a cardiac rhabdomyoma. The boy is symptoms-free after 5 years of the operation. An echocardiogram taken at this time showed no-evidence of heart tumor. Pathology, diagnostic methods and surgical indications are commented. A review of selected surgically resected cases is also presented.
 ...
PMID:[Cardiac rhabdomyoma and tuberous sclerosis. Survival after the surgical resection of the cardiac tumor]. 206 73

Female infant, presenting with flexion spasms, skin hypochromatic spots and systolic ejection murmur. A clinical diagnosis of tuberous sclerosis, supported by computerized brain tomography and neurosonographic data, was made. Echocardiographic and cineangiocardiographic studies disclosed an associated tumor in left ventricle outlet. After resection of the rhabdomyoma, the patient is asymptomatic with neural manifestations controlled under valproic acid.
 ...
PMID:[Tuberous sclerosis associated with left ventricle rhabdomyoma]. 209 19

A cytogenetic study was performed with cultures derived from peripheral blood, unaffected skin, and angiofibromas of four patients suffering from the sporadic form of tuberous sclerosis (TSC). Increased frequencies of unstable chromosomal anomalies were found in lymphocytes and in fibroblasts from unaffected skin of the patients. The slight increase of the overall rate of unstable anomalies observed in angiofibroma-derived cultures above that of lymphocytes and skin fibroblasts, respectively, could almost entirely be attributed to a higher frequency of dicentric chromosomes. Of the 17 facial angiofibromas from which a total of 20 cell cultures were established, nine showed a normal karyotype, while eight exhibited stable chromosomal rearrangements, among which 19 clonal types could be identified. Unbalanced forms of various translocations caused partial trisomies of the long arms of chromosomes 1, 3, 7, 10, and 15. There was no clustering of breakpoints to a particular chromosomal region, nor was one particular chromosome preferentially involved. Frequencies and kinds of rearrangements varied between cultures derived from different angiofibromas from the same patient and between different culture charges from the same tumor. Tetraploidy was not generally more abundant in the angiofibroma-derived cultures, but there were a few culture charges with exceedingly high rates of tetraploid cells. The occurrence of premature centromere disjunction (PCD), either affecting all chromosomes or only part of them in angiofibroma-derived cultures, first described in TSC by Scappaticci et al. could be confirmed.
 ...
PMID:Cytogenetic studies in tuberous sclerosis. 215 8

The pathological findings, including immunohistochemical and electron microscopical findings, in three infants who died unexpectedly of cardiac tumor or cardiomyopathy are reported. The first was a 13-month-old boy with tuberous sclerosis and multiple rhabdomyomas of the heart, who presented with a postpartal cardiac murmur and moderate cardiomegaly. The further history was unknown. The rhabdomyoma nodules were composed of spider cells containing small amounts of desmin and myosin as well as isolated myofibrils. Microscopically small glioma nodules contained high amounts of GFAP. The second case, a boy 4 months of age, died of a large benign fibrous histiocytoma of the heart after an uneventful history. Tumor cells contained alpha-1-anti-chymotrypsin and lysozyme. The third case, a girl 2 months of age, died unexpectedly of histiocytoid cardiomyopathy. The affected cells contained fat droplets, glycogen granules, many leptomer myofibrils and small amounts of myosin and desmin.
 ...
PMID:Unexpected infant death attributable to cardiac tumor or cardiomyopathy. Immunohistochemical and electron microscopical findings in three cases. 216 15

Renal cell carcinoma (RCC) is the most common tumor of the kidney. Angiomyolipoma is frequently present in the patient who has the stigma of tuberous sclerosis. We reported a case of a 39-year-old female, without the stigma of tuberous sclerosis, who was admitted on account of a firm, huge, fixed and palpable mass over the left flank region for one week. After radical nephrectomy, the pathological report was renal cell carcinoma, granular cell type, associated with angiomyolipoma. The literature concerning this unusual case is reviewed.
 ...
PMID:Simultaneous renal cell carcinoma and angiomyolipoma in a kidney--a case report and literature review. 216 49

Between 1979 and 1989 21 renal tumors (8 girls and 13 boys) were diagnosed and treated in the Pediatric Hospital of the University of Erlangen. Additionally, there was evidence of nephroblastomatosis in 5 children with Beckwith-Wiedemann Syndrome and hemihypertrophy. One of these infants developed a Wilms' tumor at the age of 3 1/2 years. The most frequent tumor was the Wilms' tumor, which was diagnosed in 14 children. Wilms' tumor are sonographically well delineated, round or oval tumors which often enclose small cysts (72%) but rarely calcifications (5%) and show inhomogenous liver like echogenicity. Metastasis in liver, spleen or abdomen occurred in 2 infants. The most frequent renal tumor in neonates was the mesoblastic nephroma (3 infants). All mesoblastic nephromas were well delineated round tumors with inhomogenous echo-texture and equal or increased echogenicity in comparison to the liver. They often enclosed small cysts but no metastasis or calcifications. Angiomyolipomas of the kidneys could be diagnosed in two children with tuberous sclerosis. These tumors were echogenic nodules spread all over the kidney. We found multilocular nephroblastomas with multiple irregularly delineated cysts in one child. In an other child multiple renal lymphomas simulating solid tumors with liver-like echogenicity could be found.
 ...
PMID:[Ultrasound differential diagnosis of kidney tumors in childhood]. 217 4

Tuberous sclerosis is an autosomal dominant disorder of hamartoma formation in which manifestations may occur in skin, brain, and viscera. In the past, it was believed that the typical presentation included seizures, mental retardation, and facial angiofibromas ("adenoma sebaceum"). This disorder is now recognized to show wide variability of expression. There are only four cases of tuberous sclerosis in pregnancy in the literature. Two of these had favorable maternal and fetal outcomes and the remaining two presented with serious maternal and fetal complications. These included acute intra-abdominal bleeding due to a ruptured renal tumor, which led to renal failure requiring hemodialysis, and severe preeclampsia with pathologically enlarged kidneys noted at the time of cesarean section. This study presents two more cases of tuberous sclerosis in pregnancy. The first case had renal involvement with bleeding into a renal cyst, renal failure, preeclampsia, and severe intrauterine growth retardation. The second case was complicated by preterm premature rupture of the membranes and preterm labor. Renal involvement appears to be the single most important prognostic factor in pregnancies with tuberous sclerosis. Renal evaluation should be performed in any patient who presents for preconceptional counseling.
 ...
PMID:Tuberous sclerosis in pregnancy. 218 12

Hamartomas of the skin are tumor-like malformations of mature or nearly mature structures that are part of the normal structure of skin. The onset is usually at birth; however, it may be delayed until childhood or early adulthood. Hamartomas may occur on any part of the body and are sometimes linear and unilateral. Histologically, they may show an alteration of a single cell line or of multiple related cell lines. Some types of the hamartomas may be markers for underlying internal organ abnormalties, such as the epidermal nevus syndrome, the nevus comedonicus syndrome, or the organoid nevus syndrome. Some may be prone to develop various secondary benign or malignant tumors as in an organoid nevus. Hamartomas may occur as solitary, sporadic lesions unrelated to other conditions or as multiple lesions that are inherited as an autosomal trait. The latter are often associated with systemic abnormalites. Hamartomas such as Becker's pigmented hairy nevus appear to be inherited as an autosomal dominant trait, but the late onset and variable expression may be under hormonal influence. So far only tuberous sclerosis has been shown to be related to a specific chromosomal abnormality, mutant gene located on the long arm of chromosome 9.
 ...
PMID:Hamartomas. 220 76

Although spontaneous regression of cardiac rhabdomyoma has been reported, prognosis is still considered to be poor and surgery continues to be indicated. The experience with rhabdomyoma diagnosed in live infants over a 20-year period was reviewed. Diagnosis by angiography or echocardiography was accepted only if multiple tumors were present or if tuberous sclerosis was also diagnosed. Nine patients (3 diagnosed prenatally and the remaining 6 at age less than 8 months) were identified as having a total of 24 tumors. Measurements in 2 planes demonstrated at least some evidence of regression in 24 patients (100%), with 20 of 24 having complete resolution. One patient required delayed surgery for excision of a subaortic ridge that appeared at the site of a resolved tumor. Our findings suggest that pediatric cardiac rhabdomyoma is most often a benign condition in which spontaneous regression is the rule. Surgery is recommended only for patients with refractory dysrhythmias or severe hemodynamic compromise.
 ...
PMID:Natural history of cardiac rhabdomyoma in infancy and childhood. 189 6

We describe eight cases of cutaneous angiolipoleiomyoma, a rare tumor previously reported only once under the term cutaneous angiomyolipoma. Clinically, the tumors were acquired, solitary, asymptomatic nodules that were always acral in location. Patients' ages ranged from 33 to 77 years (median 52.6 years); the male/female ratio was 7:1. Signs of tuberous sclerosis or renal angiomyolipoma were absent in all cases. Histologically, the tumors were subcutaneous, well circumscribed, and composed of smooth muscle, vascular spaces, connective tissue, and mature fat. In some tumors the fat was the predominant component, and in others smooth muscle predominated. Elastic tissue stains revealed that some blood vessels had developed an elastic lamina whereas other blood vessels lacked it. Additional histologic features occasionally observed included vascular thrombi, glomus bodies, and focal mucin deposition.
 ...
PMID:Cutaneous angiolipoleiomyoma. 227 8


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>