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

Eight percent of Negroes between the ages of 45 to 59 had hepatomegaly. Tongue signs and absent knee and ankle jerks were more prevalent in Negroes ages 45 to 74; they also had lower urinary excretion of thiamine and riboflavin than Whites. Bowed legs and knock knees were more frequent in Negroes ages 1 to 17 and Negro women 18 to 44. Prevalence of bleeding, swollen gums was highest in Negroes ages 45 to 59. Both grade I and II goiter were more prevalent in Negroes at all ages except men 18 to 59. Chvostek's sign indicating possible calcium deficiency was more frequent in Negroes at all ages with two exceptions. Major anthropometric findings will also be presented.
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PMID:Preliminary clinical and anthropometric findings from the first Health and Nutrition Examination Survey, USA, 1971-1972. 94 71

Stillborn calves (80 animals) originating from one dairy herd were used for studies on allometric measures in newborn calves. In the first approach some factors were neglected and only the effect of the calves' sex was considered. Differences in mean birthweight between male and female calves were reflected in organ and other body constituent weights too, but with different relations between them. Enlarged thyroid glands could be observed in both sexes but more often in female calves meaning that there is no correlation between thyroid size and body weight. Strong correlations of bones, muscles and outer body measures and looser ones of internal organs (thymus, liver, lung, kidneys, spleen) and endocrine glands (adrenal glands) with body weight were found especially in male calves. In some calves the sometimes enlarged liver looked like a fatty liver with its pale yellowish appearance and crumbly consistency.
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PMID:[Birth weight and measurements of various body parts of stillborn calves of a large dairy cattle herd]. 145 35

From 1956 through 1989, 38 men and 26 women were seen at the Mayo Clinic with biopsy-proven AA. The underlying disorder was rheumatic disease in 42, infectious disease in 11, inflammatory bowel disease in 6, and other causes in 5. All patients were symptomatic at the time of diagnosis. Fifty-eight of the 64 patients had proteinuria or renal insufficiency. Fourteen also had significant symptoms of gastrointestinal amyloid, and 6 had amyloid goiter. None of the patients had symptomatic cardiac involvement, and only 3 had palpable hepatomegaly. Renal, gastric, rectal, fat, and marrow biopsies were positive for amyloid in 100%, 94%, 82%, 58%, and 46% of tested patients, respectively. The median survival of the entire group was 24.5 months. Thirty-five of the 47 deceased patients died as a direct result of their amyloidosis, primarily from complications of renal failure. Nine were successfully treated and had regression of the disease. Two with bronchiectasis responded to long-term cyclic antibiotic therapy, as did 1 patient with osteomyelitis. One patient with inflammatory bowel disease responded to surgical resection, and 1 with familial Mediterranean fever responded to colchicine. Four patients with rheumatic disease were treated with cyclophosphamide (in 2) and methotrexate (in 2), with complete resolution of their renal disease. All 9 successfully treated patients are alive, with a median follow-up of 58 months. Statistical analysis revealed that creatinine values greater than or equal to 2.0 mg/dl (P less than 0.003) and a serum albumin value less than 2.5 g/dl (P less than 0.02) were associated with a poorer survival. The single strongest variable associated with poor survival was a serum creatinine level greater than 2 mg/dl at presentation, with a median survival of 11.2 months compared to patients with a creatinine level less than 2.0 mg/dl, with a median survival of 56.9 months.
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PMID:Secondary systemic amyloidosis: response and survival in 64 patients. 206 9

During the period 1955-1959, approximately 4000 people in southeast Anatolia developed porphyria due to the ingestion of hexachlorobenzene (HCB), a fungicide added to wheat seedlings. These HCB exposures subsequently led to the development of bullae on sun-exposed areas, hyperpigmentation, hypertrichosis, and porphyrinuria. The condition was called kara yara or "black sore." Many of the breast-fed children under the age of 2 years whose mothers had ingested HCB-treated grain died from a disease known as pembe yara or "pink sore." In this follow-up study of 252 patients, 20-30 years postexposure, there were 162 males and 90 females, with an average current age of 35.7 years, an average of onset of 7.6 years, and a duration of 2.2 years. Many patients had dermatologic, neurologic, and orthopedic symptoms and signs. The observed clinical findings include scarring of the face and hands (83.7%), hyperpigmentation (65%), hypertrichosis (44.8%), pinched facies (40.1%), painless arthritis (70.2%), small hands (66.6%), sensory shading (60.6%), myotonia (37.9%), cogwheeling (41.9%), enlarged thyroid (34.9%), and enlarged liver (4.8%). Urine and stool porphyrin levels were determined in all patients, and 17 have at least one of the porphyrins elevated. A total of 56 specimens of human milk obtained from mothers with porphyria were analyzed for HCB. The average value was 0.51 ppm in HCB-exposed patients compared to 0.07 ppm in unexposed controls. Offspring of mothers with three decades of HCB-induced porphyria appear normal.
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PMID:Hexachlorobenzene episode in Turkey. 259 Apr 90

It has been estimated that during 1955-1959 in southeastern Turkey, approximately 4000 people developed porphyria due to ingestion of hexachlorobenzene (HCB), a fungicide added to wheat seedlings. Patients subsequently developed bullae on sun-exposed areas, hyperpigmentation, hirsutism, weakness and porphyrinuria. Children born to mothers who had ingested the grain were exposed to HCB in maternal milk and transplacentally, resulting in the death of children under the age of two. In this follow-up study, 204 patients with a past history of HCB-induced porphyria were re-evaluated. There were 132 males and 72 females, with an average age of 32.1 years, an average age of onset of 7.1 years and a duration of 2.4 years. The clinical features of the 204 patients were: scarring of the face and hands in 86.7%, hyperpigmentation in 71.1%, hirsutism in 47.1%, pinched facies in 41.2%, fragile skin in 37.7%, painless arthritis in 66.6%, small hands in 64.2%, an enlarged liver in 4.4% and an enlarged thyroid in 37.3%; most patients also showed neurological symptoms. Urine and stool porphyrin levels were determined in all patients. Seventeen showed elevated levels of one of the porphyrins and eight were considered still porphyric after 25-30 years. A total of 56 specimens of human milk obtained from porphyric mothers were analysed for HCB. The average value was 0.51 ppm compared with 0.07 in controls. After HCB ingestion, abnormal porphyrin metabolism, dermatological, orthopaedic and neurological findings, and HCB residues in the milk of porphyric patients have been shown to persist at least for 25-30 years.
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PMID:Porphyria turcica: hexachlorobenzene-induced porphyria. 359 56

We report the case of a 28-year-old woman attending for hirsutism and diabetes mellitus. Diabetes was a casual finding 2 years before consulting and was treated with diet and antidiabetic drugs. Acromegalic appearance, facial acne, penty, curled and rude hair, hypertrichosis, ade I diffuse goitre, prominent abdomen with umbilical hernia, severe hepatomegaly, prominent muscles and veins with normal genitalia appeared in the physical examination. No other abnormalities were found. Hypophysis, thyroid, suprarenal and ovaric hormonal functional studies were normal. An insulin-resistant diabetes mellitus was found in the metabolic study. Ultrasound and TAC showed severe diffuse hepatomegaly and visceral fat lack. Bone radiographies showed diffuse lesions compatible with polyostotic dysplasia. Subcutaneous, hepatic and bone biopsy revealed lack of fat tissue, hepatic steatosis and osteal fibrosis. Patient s diagnosis was Berardinelli-Seip syndrome, Seip-Lawrence or lipoatrophic diabetes associated with polyostotic fibrotic dysplasia. Case is studies and bibliographic references are reviewed.
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PMID:[Seip-Lawrence syndrome associated with polyostotic fibrous dysplasia. Report of a case]. 923 83

The symptoms of amyloidosis depend on the type of precursor, the amount of deposits and their location. In systemic amyloidosis almost every organ may be involved. Cardiac involvement is severe, especially in AL amyloidosis, responsible for restrictive cardiomyopathy with right ventricular failure, leading rapidly to death. Renal amyloid deposition causes nephrotic syndrome with hypertension and renal failure. Neurological complications include peripheral neuropathy with dysautonomia cerebral involvement (dementia, cerebral haemorrhages). Arterial deposits are common in systemic senile amyloidosis, and may cause ischaemia. Osteo-articular damage is mainly seen in patients on long-term haemodialysis. Liver enlargement is often the only manifestation of hepatic amyloidosis. Digestive tract involvement includes macroglossia deposits in salivary glands and disturbances in gastrointestinal motility. Pulmonary amyloidosis causes nodular or interstitial infiltrates. Cutaneous lesions are various. Localized amyloidoses include goiter, breast and vesical involvement which can be difficult to differentiate from neoplasm, as well as ocular amyloidosis mimicking posterior uveitis.
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PMID:[Localizations and consequences]. 945

Neonatal hyperthyroidism has mostly been described in the context of maternal Graves' disease. It has been estimated that about 0.2% of pregnant women have Graves' disease; however only 1% of the children born to these women are described as having hyperthyroidism. In most of the cases, the disease is due to maternal antibodies transferred from the mother into the fetal compartment, which stimulate the fetal thyroid by binding to the thyrotropin (TSH) receptor. In this form of neonatal hyperthyroidism, thyrotoxicosis disappears with the clearance of the maternal antibodies and usually signs disappear during the first 4 months of life. Rare forms of persistent, nonimmune neonatal hyperthyroidism are explained by molecular abnormalities of the TSH receptor. Prematurity is frequent, as well as hypotrophia. Tachycardia, goiter, hyperexcitability, poor weight gain, hepatomegaly and/or splenomegaly, stare and/or eyelid retraction are among the most frequent neonatal thyrotoxicosis clinical signs. Diagnosis is based on the determination of the blood level of thyroxine (T4), triiodothyronine (T3), and TSH. Even if these levels are normal in the cord blood, tests should be repeated 3 to 10 days later to detect possible delayed appearance of the disorder. These parameters should be interpreted according to the age of the neonate. To confirm the immune nature of this hyperthyroidism, thyroid-stimulating immunoglobulins (TSI) should be determined. The TSI determination is crucial in identifying nonimmune causes of neonatal hyperthyroidism: in this neonatal hyperthyroidism, TSI are not detected, either by radioreceptor assay and/or by functional assay, and molecular studies are needed to identify the mutation. Mutation of the TSH receptor leading to its constitutive activation and to neonatal hyperthyroidism have been described. Germline mutations are found in hereditary hyperthyroidism; de novo germline mutations can cause sporadic congenital hyperthyroidism.
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PMID:Hyperthyroidism in early infancy: pathogenesis, clinical features and diagnosis with a focus on neonatal hyperthyroidism. 992 Mar 74

We present a 10-year-old girl who presented to our emergency services with difficulty in breathing of 2-days duration and progressive weakness of a month's duration. In a previous admission elsewhere, she had not been detected to have hyperthyroidism or electrolyte abnormalities. On admission, the child was in hypercapnic respiratory failure with tachycardia and hepatomegaly. A small goiter as well as signs of thyrotoxicosis were present. Laboratory investigations showed anemia, mildly elevated liver enzymes and serum potassium of 4.8mEq/L. Despite intubation and ventilation and other supportive management including propranolol, the patient could not be saved. Post-mortem biopsy of the thyroid showed diffuse hyperplasia of the follicles and muscles showed evidence of thyroid myopathy.
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PMID:Fatal thyrotoxic periodic paralysis with normokalemia. 1805 90