Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of Prader-Willi syndrome who later developed hepatoblastoma is reported. Prader-Willi syndrome was suspected because of hypotonia, hypopigmentation, and undescended testes when he was a newborn infant. The diagnosis was confirmed by chromosome analysis, which showed 46XY del(15)(q11, q13). When he was 1 year 4 months old, a liver tumor and high serum AFP were found. At operation a large tumor arising from the caudate lobe was found and the tumor was totally resected. After completion of the hepatectomy, he developed circulatory collapse of unknown cause and died shortly after the operation. Histopathologic examination revealed that the tumor was composed of two components, well differentiated cells and poorly differentiated cells. The well differentiated part did not dominate the poorly differentiated part, so it was diagnosed as poorly differentiated hepatoblastoma. This is the first reported case of Prader-Willi syndrome with a pediatric malignant tumor.
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PMID:Prader-Willi syndrome with del(15)(q11,q13) associated with hepatoblastoma. 166 44

Dacarbazine-vindesine-cisplatin treatment was evaluated in a phase II study of patients with disseminated malignant melanoma after the dose of cisplatin had been determined in a phase I study. Dose of dacarbazine was 250 mg/m2 X V every 4 weeks, vindesine 3 mg/m2 once every week, and cisplatin 100 mg/m2 every 4 weeks. Forty patients with advanced disseminated malignant melanoma are available for response. Complete remissions were obtained in three patients (8%) and partial remissions in 12 patients (30%). The total response rate was 38%. Median response duration was 4 months. Toxicity was unacceptable in five cases (nephrotoxicity, one patient; ototoxicity, two patients; hypotonia, one patient; gastrointestinal toxicity, one patient). The conclusion is that the combination dacarbazine-vindesine-cisplatin gives rise to a high response rate in patients with advanced disseminated malignant melanoma. Despite its considerable toxicity, the regimen should be tested on patients with a limited tumor burden.
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PMID:Dacarbazine-vindesine-cisplatin in disseminated malignant melanoma. A phase I-II trial. 234 26

From June. 1987 to Dec. 1988, data was collected from 12 cases with Congenital Brain Anomalies. The cases involved 7 girls and 5 boys with ages ranging from 2 days to 15 years old. Abnormalities diagnosed were Cavum-septi pellucidi; Cavum vergae; Cystic dilated cavum; Cavum veli interpositi; Lissencephaly with dysgenesis of the corpus callosum; Dysgenesis of the corpus callosum associated the midline dorsal cyst; Holoprosencephaly, alobar type; Schizencephaly associated with Hydranencephaly; Encephaloclastic porencephaly; Severe hydrocephalus; Variant type of Dandy-Walker cyst with dysgenesis of the corpus callosum; Arnold-Chiari malformation. The patients were initially seen OPD primarily for seizures and other complaints such as nystagmus with visual impairment, hypotonia, facial anomalies, Yolk-sac tumor, prematurity, dyspnea and hydrocephalus. Among these, Holoprosencephaly was easiest to diagnose because it was combined with facial anomalies. However the others required evaluation by CT. CT offers very efficient diagnostic modality which is better than a Cranial Echo. It is also safer than the invasive angiography and not as expensive as MRI.
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PMID:[Congenital anomalies of the brain in computed tomography]. 276 27

A case of an unusual congenital intramedullary tumor of the spinal cord is reported. A paraplegic 11-day-old boy with hypotonia and atrophy of the abdominal and lower-extremity muscles showed a complete myelographic block between T-5 and T-8. Surgical exploration disclosed an elongated tumor mass within the spinal cord, that blended with the surrounding nervous-system tissue. Light and electron microscopy showed that the tumor was composed of intermingled well differentiated astrocytes and fibroblasts. These two cell types often were surrounded by the same basal lamina. There were no intercellular junctions. Gliofibrils were abundant, and the interstitial spaces contained abundant collagen and reticulin fibers. There were no histological signs of malignancy. We conclude that this is a case of prenatally arising gliofibroma.
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PMID:Prenatal intramedullary gliofibroma. A light and electron microscope study. 669 58

2 cases of intradural spinal lipomas with extension into the posterior fossa in infancy are presented. Clinical features included associated subcutaneous posterior spinal lipomas and hypotonia. The cases were diagnosed by metrizamide myelography and spinocranial computerized tomography scanning. Operative therapy consisted of combined suboccipital craniectomy, spinal laminotomy, flap elevation and subtotal tumor decompression. The entity is reviewed.
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PMID:Spinal intradural lipoma with intracranial extension. 717 76

A female patient aged 28 fell ill with manifestations of sensory aphasia, headache and signs of cerebral compression. Except for a bilateral papilledema there were no further pathological clinical and paraclinical findings. Later on, amaurosis, deafness, anosmia and generalized muscular hypotonia developed. The nuclear magnetic resonance image revealed a major accumulation of contrast medium in the leptomeninx. Biopsy demonstrated a mesenchymal neoplasm in the leptomeninx. After a strong rise in intracranial pressure, the patient died from a bulbar brain syndrome. Microscopy revealed a diffuse neoplasm limited to the leptomeninx of brain and spinal cord as well as the immediate neighbourhood of small cortical vessels which, by morphological criteria, was classified as low-grade malignant. With the aid of electron microscopy, the tumour cells could be identified as descendants of smooth muscle cells.
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PMID:[Primary diffuse leptomeningeal leiomyomatosis]. 794 27

A cytokine produced by the subpopulation of activated helper lymphocytes T has been called interleukin-2 (IL-2). The obtaining of recombinant cytokine has facilitated the study of its biological properties and its application in the treatment of certain neoplastic and infectious diseases. IL-2 affects the target cells by means of a receptor of great affinity consisting of three independent chains: alpha, beta, gamma. The cytokine is the most important growth factor of lymphocytes T, conditioning their clonal expansion. Antigen stimulation is the condition for the expression of IL-2 does not, however, affect resting lymphocytes T. The expression of the receptor for this cytokine on NK cells is, however, continuous in character but only a very small percentage of these cells has receptors of great affinity. IL-2 plays a great role in adoptive immunotherapy consisting in intravenous administration of cells with cytotoxic properties. Cells obtained from peripheral blood and grown in vitro are called LAK cells (lymphocyte activated killer cells), while cells obtained from neoplasms and grown in similar conditions are named TIL cells (tumor infiltrated lymphocytes). LAK and TIL cells reveal a similar antineoplastic activity in vivo. At present, however, recombinant IL-2 alone is used more often, either intravenously or subcutaneously. The cytokine is effective in the treatment of patients with disseminate cancer of the kidney and melanoma, and in adjuvant therapy of acute myeloid leukemia. Attempts have been made to apply it in the treatment of AIDS and leprosy. The toxic effect of IL-2 depends on the dose and the mode of administration. In the majority of patients parainfluenza symptoms appear. Most undesirable effects are connected with multisystemic syndrome of capillary vessels hyperpermeability leading to the increased fluid retention into extravascular spaces, oedema, hypotonia and oliguria.
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PMID:[Biological properties and therapeutic use of interleukin 2 (IL-2)]. 865 37

We report a 63-year-old man with progressive gait disturbance and dysarthria. The patient was apparently well until the age of 62 (February, 1990) when he noted unsteadiness of gait. Two months later, dysarthria appeared. He was admitted to Juntendo Izunagaoka Hospital on April 23, 1990. Neurologic examination revealed a mentally sound man with normal higher cerebral functions. Cranial nerves were unremarkable except for scanning speech. His gait was ataxic with positive Romberg sign. No motor weakness was noted, however, he had hypotonia and cerebellar ataxia. Deep tendon reflexes were retained and the plantar response was flexor. Pain, touch and vibration senses were diminished in the distal parts of the lower extremities. Laboratory examination revealed a 2.5 cm mass in the left lung field. Cranial MRI revealed a small T1-low and T2-high signal intensity lesion in the left temporal lobe. Abdominal CT scan revealed multiple low density lesions in the liver. His subsequent course was complicated by progressive deterioration in his gait and loss of deep tendon reflexes. He expired on November 24, 1990. The patient was discussed in the neurological CPC and the chief discussant arrived at the conclusion that the patient had anti-Hu associated paraneoplastic encephalomyelitis and sensory neuropathy. Some other participants thought that the patient had carcinomatous cerebellar degeneration. Postmortem examination revealed a 4x4 cm mass lesion involving the left S4-S5 segments. Histologic examination of the tumor was small cell carcinoma. Many metastatic foci were found in the liver. The cerebral hemispheres were unremarkable except for a small wedge-shaped tissue defect in the left temporal lobe which appeared to have been caused by old head trauma which the patient had received. The cerebellar vermis showed slight enlargement of cortical sulci, however, the cerebellar hemispheres appeared unremarkable. Upon histologic examination, marked loss of Purkinje cells was noted, particularly in the cerebellar anterior lobe. The dentate nucleus showed slight cell loss with increase in fat granule cells. The inferior olive was normal. The histologic characteristics were consistent with the pathologic diagnosis of carcinomatous cerebellar degeneration. No evidence of limbic encephalitis was seen. The peripheral nerve was not examined.
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PMID:[A 63 year-old man with progressive gait disturbance and dysarthria]. 888 38

A 74 year old patient with diabetes mellitus was hospitalized because of nausea, recurrent vomiting and increasing fatigue. Shortly before admittance the patient had diarrhea. He also reported a recent onset of aversion against meat consumption. Clinical investigation revealed a possible right-sided paraumbilical abdominal tumor, normal bowel sounds, a vascular bruit and a normal white blood count with increased band forms. During hospitalisation the general condition of the patient deteriorated rapidly with fever and increasing numbers of immature granulocytes. The patient finally died under the symptoms of a paralytic ileus with hypotonia and hypoglycemia. Autopsy revealed a fist-sized stenosing tumor in the cecum with the histology of a mainly well differentiated, cylindrocellular adenocarcinoma. As immediate cause of death a bilateral paracentral lung embolism with pulmonary edema was found, the latter probably as immediate consequence of preterminal heart failure.
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PMID:[Intestinal paralysis in long-term diabetes mellitus]. 965 91

Since MRD is the major cause for relapses of malignant diseases, strategies utilizing ITs to target tumor cells surviving conventional treatment have attracted scientific and clinical interest. Many different ITs against various blood-borne as well as solid malignancies have demonstrated specific potent anti-tumor effects in vitro and in animal models. Some of these have already undergone clinical phase I/II-trials. The dose-limiting toxicities of RTA ITs include manifestation of VLS presenting as decreased urinary sodium excretion, hypoalbuminemia, fatigue, hypotonia, myalgia, pulmonary edema, or rhabdomyolysis. Problems encountered clinically include the development of HAMA, HARA, and HACA and the selection of antigen-deficient malignant clones. Most clinical trials performed with ITs so far were conducted in heavily pretreated patients presenting with high tumor burdens. Thus, the responses observed with ITs in these trials are very encouraging and warrant further exploration.
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PMID:The emerging role of ricin A-chain immunotoxins in leukemia and lymphoma. 967 Jun 10


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