Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This report deals with two sisters who died with eight, respectively ten weeks under the signs of respiratory failure caused by progressive muscular weakness. Only an elevated cerebrospinal fluid protein was suspicious of an additional disturbance of the central nervous system. Muscle biopsy revealed a vacuolar myopathy. Histochemistry showed lipid storage, increased mitochondrial enzyme activity, and to a lower degree, glycogen accumulation especially in type I muscle fibers. Electron microscopy confirmed elevated lipid content in combination with increased, enlarged and abnormally structured mitochondria. Biochemical studies on muscle biopsy, in comparison with normal children, showed a significant decrease of carnitine content and an increased activity of carnitine palmityltransferase. Retrospectively from a clinical point of view this disease is suggestive of "systemic carnitine deficiency", even if some symptoms (hepatomegaly, cardiomyopathy) were not present and serum- and liver carnitine was not measured because the children died before the diagnosis of muscle carnitine deficiency was confirmed. The clinical picture of these two fatal cases is compared with another observation of muscle caritine deficiency. This child shows only a mild course of muscle disorder, but very similar morphological changes in muscle biopsy. Biochemically, there was a clear decrease in muscular carnitine, while the serum levels were in the normal range. The activity of muscular carnitine palmityltransferase was also normal.
 ...
PMID:[Clinical, morphological and biochemical studies on muscle carnitine deficiency (author's transl)]. 50 58

Listeria monocytogenes can cause sepsis and meningitis during the neonatal period. Six cases of early onset neonatal sepsis caused by Listeria monocytogenes are reported here. These cases were diagnosed in a private hospital at Santiago, Chile from December 1984 throughout November 1986. The incidence rate was 1.4 x 1,000 liveborns. Clinical findings included prematurity (6), meconium stained amniotic fluid (6), hepatomegaly (6), splenomegaly (6), maculopapular exanthem (4), anal prolapse (3) and meningitis (1). Additionally 5 patients developed respiratory distress and 4 required ventilatory support. Overall mortality was 50% (3/6). All deaths were related to respiratory failure and occurred during the first week of disease. All patients received ampicillin and amikacin early in the course of their infection. Listeriosis of the newborn infant might be preventable by prompt recognition and treatment of maternal infections. Since Listeria infection in pregnancy is usually mild and symptoms and signs are nonspecific, prevention may be difficult. Pregnant women with fever of no clear origin or with an influenza like syndrome should be screened for listeriosis with cultures from blood, vagina and cervix samples.
 ...
PMID:[Early onset neonatal septicemia caused by Listeria monocytogenes]. 215 19

An unusual case of Niemann-Pick disease type C is reported. The disease was first manifested in utero with hepatomegaly and ascitis. At the age of 3 months, respiratory signs were noted due to diffuse alveolar and interstitial pneumonia. Both bronchoalveolar lavage and blood serologic studies revealed respiratory infection by respiratory syncitial virus and Chlamydia trachomatis. These concomitant infections delayed the diagnosis of Niemann-Pick disease which was finally made by the electronic microscopic studies of liver biopsy and bone marrow specimens. Type C was identified by biochemical characterization of lipid accumulation in hepatocytes and by lipid enzyme profiles obtained from cutaneous fibroblast cultures. The child died at the age of 6 months from respiratory failure. Post mortem examination of the lung showed the presence of numerous overloaded alveolar macrophages in the alveolar spaces and walls. The severity of the lung issue disease is unusual in type C Niemann-Pick disease, in which neurologic involvement is usually the main prognosis factor.
 ...
PMID:[A fatal respiratory form of type C Niemann-Pick disease]. 236 71

We reported two siblings of Leber's congenital amaurosis associated with increased level of very long chain fatty acid (VLCFA) in blood. Case 1, a 3 1/2-year-old boy had congenital blindness, severe psychomotor retardation, hepatomegaly, profound hypotonia, loss of deep tendon reflexes, muscular atrophy and weakness, and non-convulsive status epilepticus characterized by a sudden respiratory failure, and also showed a flat electroretinogram, non-pigmentary retinal degeneration, severe atrophy of the brain stem and cerebellum, hepatic fibrosis, decreased motor and sensory conduction velocities and atlanto-axial instability. Sural nerve biopsy revealed severely decreased number of total myelinated fibers without remarkable demyelination or remyelination. Case 2, an elder sister of case 1, with pigmentary retinal degeneration, hepatomegaly and pericarditis had died at 3 months. Autopsy revealed hypomyelination and heterotopy of the cerebral white matter, hepatic fibrosis, renal microcysts and normal adrenal cytoarchitecture. In case 1, the level of VLCFA was increased twofold and sevenfold of controls in serum and in red cell membrane, respectively. Phytanic or trihydroxycholestanoic acid was not detected in the serum and bile. Normal shaped peroxisomes were definitely recognized in biopsied liver by means of electronmicroscopic histochemistry. From the above findings, these patients was thought to be a new variant of peroxisomal disorders relating to degradation of VLCFA, other than Zellweger syndrome, infantile Refsum disease and infantile adrenoleukodystrophy. It was concluded that peroxisomal functions should be studied in cases of Leber's congenital amaurosis.
 ...
PMID:[Two siblings of Leber's congenital amaurosis with an increase in very long chain fatty acid in blood: relationship between peroxisomal disorders and Leber's congenital amaurosis]. 278 58

Eighty-five patients with acute myeloblastic leukemia (AML) presenting with hyperleukocytosis (HL) were analyzed to assess morbidity and mortality in early induction. Patients who failed to achieve remission were older and more often had pulmonary leukostasis (62% vs 23%, p = .01) and hepatomegaly (54% vs 31%, p = .06) at presentation. Thirty-seven patients (44%) did not achieve complete remission (CR); 17 (54%) died early in induction therapy, 11 directly as a result of pulmonary hemorrhage with respiratory failure, while 5 had both pulmonary hemorrhage with respiratory failure and CNS hemorrhage. Early death patients were older and more often had pulmonary leukostasis (88% vs 29%, p less than .0001), hepatomegaly (71% vs 34%, p = .01), hyperbilirubinemia (60% vs 16%, p = .01) and hypofibrinogenemia (47% vs 12%, p less than .01) at presentation. Primarily for technical reasons, preinduction leukapheresis was not employed as often in this very-high-risk group as in other patients (56% vs 82%, respectively). Thus, sufficient heterogeneity exists in patients presenting with HL to define a subset of patients at particularly high risk for early mortality. Preinduction leukapheresis applied in a prospective controlled fashion should be evaluated to assess if such treatment may decrease early mortality in this group.
 ...
PMID:Acute myeloblastic leukemia with hyperleukocytosis: risk factors for early mortality in induction. 316 45

Three patients with respiratory failure resulting from miliary tuberculosis had a characteristic clinical presentation that included a long history of a prominent cough, dyspnea, weight loss, tachycardia, tachypnea, pulmonary adventitious sounds, and hepatomegaly. Hematologic investigation showed a normal white cell count with marked left shift in the morphology of white cells in all three patients, and evidence of disseminated intravascular coagulation in one patient. In only one patient was the initial sputum positive for acid-fast bacilli; in the others, invasive diagnostic procedures including lumbar puncture, bone marrow trephine, and open-lung biopsy were necessary for diagnosis. Miliary tuberculosis should be suspected in patients with adult respiratory distress syndrome of unknown etiology. Simple diagnostic procedures such as sputum, bronchial brushings, and urine examination should be followed by bone marrow trephine, liver biopsy, transbronchial lung biopsy, and lumbar puncture if physical signs of meningitis are present.
 ...
PMID:Adult respiratory distress syndrome associated with miliary tuberculosis. 396 42

From 1980 to 1993, 95 patients with cardial myxoma (male 32 and female 63) were treated surgically. The myxoma located on left-atrium in 88 patients, right-atrium in 5, left-ventricle in 1, and pulmonary in 1. All the operations were carried out under cardiopulmonary bypass. After operations, 12 patients had dyspnea and 8 died of pulmonary infection and heart or respiratory failure. The hemoglobin level was 118.02 +/- 16.7 g/L, 72.33 +/- 8.82 g/L, and 105.75 +/- 5.91 g/L respectively for pre-dilution, post-dilution, and post-operation. The patients with cardial myxoma often complicated with anemia (56), hepatic enlargement (36), and history of heart failure (64), and embolism (12). Combined with clinical characteristics mentioned above, the preparation of prime solution and the management of perfusion were discussed.
 ...
PMID:[Cardial myxoma: analysis of cardiopulmonary bypass perfusion in 95 cases]. 858 12

A 3-month-old Chinese male infant with typical manifestations of Beckwith-Wiedemann Syndrome (BWS), such as macroglossia, hepatomegaly, umbilical hernia and hypoglycemia, presented with a large hepatic tumor. The tumor measured 7.6 x 8.0 x 7.5 cm. An open biopsy of the tumor revealed hepatoblastoma. The family refused chemotherapy, so only supportive care was given. The tumor grew very rapidly and the infant died 17 days after admission due to respiratory failure. To our knowledge, this is the first report of BWS associated with hepatoblastoma in a Chinese infant. This patient was a typical example of the association of BWS and hepatoblastoma, and the possible effect of growth factors on the rapid proliferation of the neoplasm in BWS.
 ...
PMID:Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome. 906 12

A 40-year-old man with chronic myelogenous leukemia in chronic phase received an allogeneic marrow graft from his HLA identical brother. He was conditioned with busulfan (16 mg/kg) and cyclophosphamide (120 mg/kg). Graft-versus-host disease (GVHD) prophylaxis was attempted with cyclosporine A (CYA) and methotrexate. On day 30, weight gain, ascites and hepatomegaly developed in addition to an elevation of total bilirubin (TB). He was diagnosed as having veno-occlusive disease (VOD) and treated conservatively. The TB level increased up to 20.1 mg/dl on day 66, then reduced to 2.1 mg/dl on day 129. By that time ascites and hepatomegaly also had completely resolved. However, on day 134. The TB level started to increase again, when the lesions of chronic GVHD were observed in the eye, the mouth, and the skin. CYA was started on day 142, and FK506 was substituted for CYA on day 161. Despite the improvement of oral and skin lesions, TB level continued to rise, and he died of respiratory failure due to ARDS on day 186. Autopsy revealed both acute and old hepatic VOD lesions, suggesting the occurrence of late-onset VOD which probably contributed to the liver dysfunction observed after clinical resolution of the first episode of VOD.
 ...
PMID:[Severe hepatic veno-occlusive disease (VOD) which was successfully treated with supportive therapy, but subsequently developed late-recurrence]. 954 27

We report the case of a six-week-old baby who underwent irradiation for a giant hepatic hemangioma. After medical treatment including corticosteroids and interferon, no response was observed. She progressed to respiratory failure, requiring the use of mechanical ventilation. An emergency radiation therapy of the liver was decided. We observed a rapid improvement of the child, with the recovery of autonomous breathing without mechanical ventilation and a normalization of cardiac functions. Two months later, a partial left hepatic embolization was needed due to a progression of a localized blood flow. Six months later, she finally came back home. Cardiac output was normal and hepatomegaly began to regress. One year later, ponderal status is satisfactory, and it remains a localized hepatic right lobe hypertrophy without functional consequence.
 ...
PMID:[Radiotherapy for a massive hepatic hemangioma in a six-week-old infant]. 1063 Jan 64


1 2 3 Next >>