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Biomedical subjects

J E Dimmick

Publications and source records attributed to J E Dimmick.

At least 37 records · Page 2Linked to original sources
PubMed1989

Wilms tumorlet, nodular renal blastema and multicystic renal dysplasia.

We reviewed 60 cases of multicystic renal dysplasia collected during a 10-year period. Differentiated nonproliferative nodular renal blastema occurred in 6.7 per cent of the cases, which is similar to the incidence of nodular renal blastema in kidneys of other infants with congenital obstructive uropathy. A unique case of cystic dysplasia containing nodular renal blastema and Wilms tumorlet indicates the possibility that a persistently proliferative nephroblastomatous lesion may rarely occur.

Child↗
PubMed1989

Laboratory detection of metabolic disease.

This article describes the clinical signs, abnormal chemistry, histopathology, and biochemical tests that assist in the diagnosis of many inherited metabolic diseases. Small molecule diseases (for example, amino acid disorders, organic acidurias, and galactosemia) may present with acute illness and lead to unexplained death. Diagnosis of the specific enzyme defect may permit treatment by dietary changes or vitamin supplementation. Large molecule diseases are degenerative disorders due to storage of glycogen, glycoproteins, or mucopolysaccharides. Table 7 presents a compendium of laboratory investigations one should consider using when abnormalities are found in multiple organ systems. The investigation of a child with a mucopolysaccharidosis is used as an example of the use of this table. Investigating pediatricians should realize that many laboratory tests involved in the diagnosis of metabolic disease required special collection and handling by the laboratory.

Amino Acid Metabolism, Inborn Errors↗
PubMed1989

Malignant rhabdoid tumor of the orbit.

Malignant rhabdoid tumor (MRT), originally described as a sarcomatous variant of Wilms' tumor, is now recognized as a distinct, highly malignant entity. The authors describe, for the first time, a primary tumor of the orbit with histologic, immunohistochemical, and ultrastructural features of MRT. Their findings suggest both epithelial and mesenchymal differentiation of this unique tumor.

Biopsy↗
PubMed1988

Juvenile galactosialidosis in a white male: a new variant.

We describe a 19-year-old white male with juvenile galactosialidosis. He presented with hip arthralgia and was found to have facial "coarseness," corneal clouding, mitral and aortic insufficiency, and hepatosplenomegaly. Ultrastructural studies of skin biopsy and peripheral blood lymphocytes showed membrane-bound inclusions containing sparse fibrillogranular material. Biochemical analysis showed elevated urinary sialyloligosaccharides and no free sialic acid. Fibroblast enzyme analysis showed low activities of both alpha-neuraminidase and beta-galactosidase. To date, most patients with juvenile galactosialidosis have been Japanese. However, unlike those patients, our patient did not have macular cherry-red spots, neurologic abnormalities, or mental retardation. We speculate that this young man represents a new subtype of juvenile galactosialidosis with a potentially different molecular defect from that of the Japanese variant.

Adult↗
PubMed1988

Hepatocellular carcinoma in a child with familial Russell-Silver syndrome.

We describe a 4-year-old boy with Russell-Silver syndrome (RSS) found to have hepatocellular carcinoma. The brother of this child also had manifestations of RSS. This is the third malignancy and the first hepatocellular carcinoma described in a patient with RSS. The coexistence of hepatocellular carcinoma and RSS may be completely fortuitous; however, the known association of liver cancer with growth abnormality and hemihypertrophy, findings also present in RSS, suggest that these disorders may be related.

Abnormalities, Multiple↗
PubMed1988

Functional asplenia in childhood onset systemic lupus erythematosus.

Fatal pneumococcal sepsis due to functional asplenia in a child with systemic lupus erythematosus (SLE) and transient hyposplenism in a 2nd child during an acute flare of SLE are described. Splenic ultrasound examinations and radionuclide spleen scans in 11 other children with SLE were normal. Splenic atrophy and dysfunction is an uncommon but potentially fatal complication of SLE in childhood.

Adolescent↗
PubMed1987

Pathology of renal and hepatic anomalies in Meckel syndrome.

We describe 9 cases of Meckel syndrome (dysencephalia splanchnocystica), ranging in gestational age from 17 to 39 weeks. Five were liveborn, and the longest survival was 30 hours. Six of the 9 had all 3 elements of the classically defined triad, namely occipital encephalocele, renal cystic dysplasia, and postaxial polydactyly. The remaining 3 cases had only 2 elements of the triad. The renal abnormalities in the 9 cases resembled one another closely, varying only slightly in severity. They consisted of renal cystic dysplasia with different degrees of nephronic differentiation. The 8 available livers all contained intrahepatic bile duct anomalies. Seven of them had the classic "ductal plate malformation," as defined by Jorgensen [1977]; the remaining case had a less severe form of this malformation. The livers of the Meckel syndrome fetuses were compared to those of age-matched control fetuses, and it was concluded that the hepatic abnormality represents an arrested development of the intrahepatic biliary system at the stage of biliary cylinders with varying degrees of reactive bile duct proliferation, bile duct dilatation, portal fibrosis, and portal fibrous vascular obliteration superimposed on the arrested pattern. The case showing the least severe hepatic lesion also had the least severe renal lesion. The anomalies that were present are listed. The relationship of the different lesions to each other is briefly discussed. It was concluded that the hepatic lesion appears to be a consistent manifestation in Meckel syndrome and is of diagnostic value as the renal lesion has previously been shown to be.

Abnormalities, Multiple↗
PubMed1987

Neural differentiation in Wilms' tumor.

Immunoperoxidase studies using antibodies to neuron-specific enolase (NSE), glial fibrillary acidic protein (GFAP), and S100 were used to confirm the presence of neural differentiation identified histologically in five cases of Wilms' Tumor. These observations invite reappraisal of Masson's proposed neuroectodermal histogenesis of Wilms' tumor because they are difficult to reconcile with the currently accepted metanephrogenic blastematous origin. They also provide a stimulus to examine the expression of neural markers during normal renal development and differentiation.

Child↗
PubMed1987

Niemann-Pick disease and juvenile xanthogranuloma. Are they related?

Niemann-Pick disease is a rare autosomal recessive lipidosis with accumulation of sphingomyelin in multiple organs due to sphingomyelinase deficiency. Cutaneous lesions are uncommon. We describe a case of Niemann-Pick disease with multiple cutaneous papules and nodules resembling juvenile xanthogranuloma.

Diagnosis, Differential↗
PubMed1987

Delta-like toxin produced by coagulase-negative staphylococci is associated with neonatal necrotizing enterocolitis.

Necrotizing enterocolitis (NEC) is a serious neonatal disorder of uncertain cause, although fecal bacteria have been implicated in some outbreaks. We examined coagulase-negative staphylococci (CONS) as possible etiologic agents. In our unit, CONS colonized the bowels of most infants studied, including 46% of 70 NEC cases (mean concentration, 10(9.1) CFU/g of stool). Over 90% of tested isolates produced a hemolysin resembling delta toxin of Staphylococcus aureus. Toxin purified from a NEC-associated isolate of Staphylococcus epidermidis resembled reference delta toxin from S. aureus in size, biologic properties, and antigenicity. This delta-like toxin was enteropathic, causing mucosal necrosis and hemorrhage in injected loops of the bowels of infant rats. Adjacent, nonexposed bowel remained normal, as did loops injected with lecithin-neutralized toxin. Using a new enzyme-linked immunosorbent assay (ELISA), we detected delta-like toxin in the stools of 11 of 35 infants colonized with CONS positive for delta-like toxin (Tox+). Positive tests were strongly associated with NEC. Of 18 cases with Tox+ CONS, 10 were positive (56%), whereas only 1 of 17 control infants so colonized was positive (6%, P = 0.002). In NEC patients, the mean fecal toxin concentration was 1,012 ng/g. Toxicity to fibroblasts was demonstrable in filtrates of each of six ELISA-positive samples tested but was absent in all five ELISA-negative samples tested. We conclude that delta-like toxin is elaborated in the bowels of some infants with Tox+ CONS, and its association with NEC suggests that such CONS are enteropathic. In our unit, this mechanism was apparent in 23% of 44 recent cases of endemic NEC.

Bacterial Toxins↗
PubMed1987

An immunohistological evaluation of Pseudomonas aeruginosa pulmonary infection in two patients with cystic fibrosis.

Pseudomonas aeruginosa is the principal pulmonary pathogen in patients with cystic fibrosis. All attempts to date to prevent or eradicate P. aeruginosa infections in these patients have been unsuccessful. Vaccination against P. aeruginosa has been proposed as a preventive strategy but it has not been adequately evaluated. The purpose of this study was to determine whether P. aeruginosa, present in the lungs of patients with cystic fibrosis, express surface antigens similar to those grown in vitro; this issue is of critical importance when choosing bacterial products as vaccine candidates. Lung sections from two patients who died of the pulmonary complications of cystic fibrosis were studied. Bacteria, both in lung sections and isolated from the lung sections and grown in vitro, reacted strongly with polyclonal and monoclonal antibodies against P. aeruginosa mucoid exopolysaccharide and outer membrane proteins F and H2; this suggested that these antigens are surface exposed in vivo. It was also found that bacteria in both lung sections were associated in situ with IgG, IgA, and C3 but not with IgM or C4.

Antibodies, Bacterial↗
PubMed1986

Perianal rhabdomyosarcoma: report of a case in an infant.

Rhabdomyosarcoma is the most common childhood sarcoma, whereas, primary pararectal rhabdomyosarcoma is very rare. To date, four pediatric and eight adult cases have been reported. In children, the tumor presents as a perianal polypoid mass, often initially misdiagnosed. Formerly a very lethal sarcoma, rhabdomyosarcoma is now treated with combined surgery, radiation, and chemotherapy, with encouraging results.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed1986

Biochemical and histologic pathology in an infant with cross-reacting material (negative) pyruvate carboxylase deficiency.

An infant with the acute neonatal form of pyruvate carboxylase deficiency (cross-reacting material negative) presented with severe intractable lactic acidosis within 4 h after birth. He also had hyperammonemia, hypercitrullinemia, and hyperlysinemia. Plasma glutamine was not elevated. He had a rapidly deteriorating clinical course with severe liver dysfunction, repeated septicemia and seizures; he was comatose and was on a ventilator throughout; death occurred at 8 wk of age. Skin fibroblast study confirmed the enzyme deficiency. Detailed biochemical parameters and histopathology of the brain and liver are presented. The evidence from this infant suggests that disturbances of intracellular oxaloacetate levels as a result of the primary enzyme defect might also contribute to deficiency in ATP generation which may explain the various other biochemical changes and liver pathology.

Acidosis↗
PubMed1986

Increased acinar complexity with polyhydramnios.

We report 4 cases that presented a contradiction in terms of intrauterine lung growth. In all cases there was increased acinar complexity despite an array of influences known to be associated with pulmonary hypoplasia. In 2 of the 4 cases the lungs were severely hypoplastic by weight. Following an analysis of the factors operative in each case regarding lung growth, we conclude that diffuse increased acinar complexity occurs in selected cases with massive polyhydramnios. The observation is of importance because it is consonant with an intimate and dynamic relationship between amniotic fluid volume, lung fluid production, and fetal breathing movements in normal intrauterine lung growth and maturation. Although lung hypoplasia is known to occur in association with polyhydramnios, the reported alterations in lung structure were not previously observed.

Autopsy↗
PubMed1985

Sudden cerebral death in malignant presacral teratoma.

A three-year-old girl with disseminated malignant teratoma was treated by palliative radiotherapy to her pulmonary metastases. She developed seizure followed by absence of cerebral function and death ensued in 36 hours. Computerized scan of brain was negative prior to death. The main finding at autopsy was occlusion of the carotid and cerebral arteries by necrotic tumour. Widespread cerebral tumour embolization may be an unusual terminal event in cancer patients with pulmonary metastases.

Brain Death↗