Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical and biochemical diagnostic studies concerned 17 cases of galactosemia coming from 15 not consauguineous families. Galactosemia was diagnosed between 1-st day and 11-th month of life. Tentative diagnosis based on clinical picture was made in 12 infants, others were detected through family history of galactosemia and/or biochemical newborn screening carried out at the National Research Institute of Mother and Child since 1969. Clinical symptoms of galactosemia occurred in most patients in the first week of life. They were the following (tab. II): hepatomegaly (in 94%), jaundice (81%), splenomegaly (79%), vomitus (62%) and diarrhoea in 56% of patients. Cataract was found in 6 infants (38%). Biochemical diagnosis was based on the results of enzymatic estimation of galactose-1-phosphate uridyl transferase activity in blood, galactose-1-phosphate in red blood cells and galactose in blood and urine. No activity of galactose-1-phosphate uridyl transferase was found in all patients, and the concentration of galactose-1-phosphate was higher than 25 mg/100 ml of red blood cells. High galactose level was observed in blood and urine in all patients with typical clinical course of galactosemia. In 2 patients however without clinical symptoms of the disease only trace amounts of galactose was detected in blood and urine. All these patients were treated with galactose free diet.
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PMID:[Clinical and biochemical diagnosis of galactosemia among our cases]. 26 27

Barrio San Antonio is a coastal settlement on the San Juanico straits in the municipality of Basey on the island of Samar, the Philippines. It has a population of approximately 1,900 in 320 households. Initially, 851 residents (45%) of 240 households participated in this survey to determine the prevalence and intensity of Schistosoma japonicum infection, and morbidity as indicated by associated hepatomegaly and splenomegaly. As a result of an initial single stool examination of 1 ml by a modified formalin concentration technique, 40% of this population was found to be infected. On subsequent examinations, with the addition of serologic techniques and recording the history of therapy, approximately 70% of this population was found to be infected with S. japonicum after the age of 10 years. If judged by the number of eggs produced per milliliter of feces, infection intensity in this population might be considered to be low. However, 25% (73 of 391 positives on single examination) exhibited schistosomal hepatomegaly or hepato-splenomegaly and had a mean egg count of 10.9. Those infected but without hepatomegaly had a slightly lower mean egg count of 8.4. Of the infected males with hepatomegaly, 75% were 19 years of age or less and 45% of these were producing less than 10 eggs/ml of stool. Of infected females with hepatomegaly, only 28% were 19 years of age or less, and 68% of these were producing less than 10 eggs/ml. Abdominal pain, distress, diarrhea, and dysentery were significantly more frequent in the infected than uninfected persons, and this frequency was related to egg output. The heights and weights of these infected individuals were less than those of the uninfected members of this population and significantly less than the Filipino norm. The small percentage of the infected population (6.6%) that were producing 51% of the eggs had a mean egg count of approximately 260 with a mean age of 33.7. In this group, 7 of the 22 individuals were in the age group 10--14 years and 15 were above 20 years of age. Although some individuals of Barrio San Antonio have sought therapy, this population and area have been largely unstudied and have not up to the present been involved in control or mass chemotherapy programs. The findings of this survey give an opportunity to determine the impact of such programs when they are instituted in this area.
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PMID:Schistosomiasis japonica in Barrio San Antonio, Basey, Samar , The Philippines. I. Epidemiology and morbidity. 31 24

A 63-year-old man presented with fever, splenomegaly, steatorrhea, diarrhea, and weight loss. A tissue diagnosis of systemic mastocytosis was made. This case is unusual in that diarrhea and steatorrhea were present in the absence of skin lesions and because fever was a prominent symptom. Thus, systemic mastocytosis should be included in the differential diagnosis of intestinal malabsorption even when the skin shows no abnormalities. The gastrointestinal manifestations of systemic mastocytosis are reviewed.
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PMID:Systemic mastocytosis with review of gastrointestinal manifestations. 75 38

Clinical data on 24 civilian patients hospitalized for malaria in The New York Hospital were analyzed. Of 16 patients infected with Plasmodium falciparum, 14 acquired the disease in West Africa. Only three of the 24 had taken recommended courses of prophylaxis. Diagnosis was invariably, and often dangerously, delayed because physicians often made diagnoses of viral syndromes or used antibiotics; only one patient had a blood smear taken by a personal physician. Although all patients had fever and chills, classic malarial fever was seen in only seven patients; nausea, vomiting and diarrhea were common. Hepatomegaly and splenomegaly occurred in about half the patients. Blood smears stained in routine fashion by Wright's stain were positive in 23 of 24 patients. A normal leukocyte count was present in 19 of the 24 patients and thrombocytopenia in 16 of 23. The most frequent complications were those of central nervous system involvement. Therapy consisted mainly of chloroquine phosphate but other drugs, including quinine, pyrimethamine, sulfonamides and primaquine, were used in special situations. Suggestions for prophylaxis, diagnosis and therapy were made.
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PMID:Malaria - the mime. Recent lessons from a group of civilian travellers. 78 38

Fifty patients with late-onset idiopathic immunoglobulin deficiency were studied and the frequency of various clinical associations and complications was observed. Men and women were equally affected, although the age at onset in men peaked in the third decade whereas it was more uniformly distributed in women. Sinobronchopulmonary infections were common and were caused by Haemophilus influenzae. Diplococcus pneumoniae, Streptococcus pyogenes and Staphylococcus aureus: bronchiectasis occurred in 28 per cent. Thirty patients (60 per cent) had diarrhea, which was often associated with steatorrhea, giardiasis, achlorhydria, abnormal Schilling tests and morphologic abnormalities on small bowel biopsy specimens, including nodular lymphoid hyperplasia; three patients had pernicious anemia. In the 20 patients without diarrhea these abnormalities were not observed except for giardiasis in one patient and achlorhydria in two patients. Cholelithiasis occurred in both groups in about a third of the patients tested. A high degree of susceptibility to neoplasia was noted. Thyroid abnormalities, including primary hypothyroidism and Graves' disease, were observed in six patients. Additional occasional findings were vitiligo, keratoconjunctivitis sicca and arthritis. Splenomegaly occurred in 14 (28 per cent) patients. The percentage of B lymphocytes in the blood was determined in 10 patients; it was normal or slightly decreased in eight patients and low in two patients.
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PMID:Idiopathic late-onset immunoglobulin deficiency. Clinical observations in 50 patients. 78 41

Adverse effects occurred in four youths after intravenous injection of an aqueous cannabis-seed tea, which was prepared by boiling the seeds. The effects were immediate and included nausea, vomiting, abdominal pain, watery diarrhea, chills, fever, hypovolemic shock, hypotension, and non-oligemic transitory renal failure. Other manifestations included persistent hypoglycemia, tachycardia, gastrointestinal bleeding, conjunctival hemorrhage, injury, jaundice, splenomegaly, leucocytosis, myalgia, arthralgia, motor weakness, and prostration. Ischemia was noted on electrocardiogram (EKG). All manifestations appeared to reverse within weeks, but these effects had been potentially fatal.
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PMID:Adverse effects of intravenous cannabis tea. 87 75

Lysinuric protein intolerance (LPI), an autosomal recessive defect of diamino acid transport, is characterized chemically by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. Our 20 patients thrived during breast-feeding, but ingestion of cow's milk caused diarrhea and vomiting. When able to select their diet, they rejected all protein-rich foods. They were short staturated and had weak atrophic muscles, osteoporosis, hepatomegaly and often splenomegaly. Four patients were mentally retarded. Fifteen patients had leukocyte counts below 4,000/mm3, and 17 patients had platelet counts below 150,000/mm3. Serum lactate dehydrogenase activity was constantly increased, and transaminase and aldolase activities were often increased. In the infants' livers, changes were only revealed by electron microscopy: increased and vesicular smooth endoplasmic reticulum, and abundance of glycogen particles in the hepatocytes. In the older patients, light microscopy demonstrated clearly limited areas where hepatocytes had large pale cytoplasm and small pyknotic nuclei. The diamino acids lysine, arginine and ornithine had plasma concentrations only one-third to one-half the normal mean; the renal clearances were clearly increased. Oral diamino acid loading tests suggested impaired intestinal absorption. Urea is built in the liver through transformation of ornithine to arginine, and cleavage of arginine to ornithine and urea. The addition of ornithine to an intravenous I-alanine loading prevented the hyperammonemia and normalized the urea production. Therefore, the diet has been supplemented with arginine, and more protein has been added. This therapy has lead to a remarkable catch-up growth in some patients. The pathophysiology of LPI is explained. Because of defective intestinal absorption and incrased renal loss, the diamino acids have a low plasma concentration. Their transport from plasma to hepatocytes is also impaired, and the liver becomes deficient in ornithine. This retards the urea cycle, and leads to postprandial hyperammonemia and protein aversion. The presence of the transport defect in the hepatocytes distinguishes LPI from other hyperdibasicaminoacidurias.
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PMID:Lysinuric protein intolerance. 115 80

A case of reticuloendotheliosis in a 7-year-old Gordon Setter is reported. Progressive weakness, debility, and diarrhea with melena were the presenting complaints. Clinical evaluation revealed splenomegaly, severe nonregenerative anemia, thrombocytopenia and leukopenia with many large blast cells in the peripheral blood. Necropsy revealed extensive involvement of bone marrow, spleen, liver, lymph nodes, kidneys, and adrenals. Gastric and duodenal ulcers were also present. The course, clinical findings and cellular characteristics of the case presented, closely resemble those reported in the syndrome of reticuloendotheliosis in cats.
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PMID:Reticuloendotheliosis in a dog. 126 Dec 71

We describe retrospectively the experience with 44 cases of AIDS from January 1987 to October 1991 at the Instituto Nacional de Pediatria, a tertiary care children hospital in Mexico City. All patients with 2 ELISA and a positive Western Blot test were included. Thirty three patients were infected perinatally (75%) and 11 through blood transfusion (25%). Fourty one patients belonged to the P2 classification of the Centers for Disease Control. Chronic diarrhea (77%), lymphadenopathy (75%), hepatomegaly/splenomegaly (70%) and oral candidiasis (61%) were the most common clinical findings. Twenty patients died (45.4%). No statistical relation were found between survival rate and the way of transmission and age at onset. Autopsy was performed in 14 patients and revealed a sharp decrease of lymphoid tissue at all levels with severe thymic atrophy.
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PMID:[AIDS in children. Experience at the National Institute of Pediatrics]. 138 80

A red-tailed hawk (Buteo jamaicensis) with signs of respiratory distress and diarrhea was captured in the Manchac Wildlife Management Area, Louisiana (USA) and died the following day. At necropsy, the carcass was emaciated and there were splenomegaly, and fibrinous pericarditis, airsacculitis, and perihepatitis. Microscopically, there were fibrinous pericarditis and airsacculitis, myocardial necrosis, necrotizing hepatitis, splenic necrosis with reticuloendothelial cell hyperplasia, interstitial pneumonia and focal pancreatic necrosis. Intracytoplasmic chlamydial inclusion bodies were noticed in macrophages in the fibrinous exudate covering air sac and pericardium, and in spleen, liver, heart, lung, and pancreas. Schizonts compatible with a Sarcocystis sp.-like protozoon were present in the walls of air capillaries in the lung. A Chlamydia sp.-like organism was isolated in embryonating chicken eggs and cell culture and identified as C. psittaci with immunofluorescent staining.
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PMID:Chlamydiosis in a red-tailed hawk (Buteo jamaicensis). 160 82


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