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Biomedical subjects

J Hicks

Publications and source records attributed to J Hicks.

At least 109 records · Page 6Linked to original sources

Transposable mating type genes in Saccharomyces cerevisiae.

A functional copy of the alpha mating type gene of Saccharomyces cerevisiae has been cloned by transformation in yeast. Using the Southern Blotting procedure it has been shown that three distinct genetic loci implicated in mating type interconversion (HML, HMR and MAT) contain sequences homologous to the clone fragment. The restriction fragment associated with each locus exhibits a characteristic size which can be correlated with the mating type allele present at that locus. The characteristic size difference between the a and alpha genetic elements made it possible to demonstrate that the homothallic interconversion of mating types in this yeast occurs by DNA rearrangement as proposed in the 'cassette hypothesis'.

Chromosome Mapping↗

The respiratory depressive effects of intravenous buprenorphine in patients in an intensive care unit.

Buprenorphine hydrochloride, a new, potent, long-acting synthetic opiate analgesic, with partial agonist-antagonist activity, was administered intravenously to two groups of patients in an intensive care unit. Arterial blood was drawn for blood gas analysis before (control) and at regular intervals after drug administration, to determine the effects of intravenous buprenorphine on respiration in critically ill patients, each acting as his or her own control. Intravenous buprenorphine 0,4 mg (group I -- 10 patients) caused a significant reduction in mean respiration rate and an increase in mean PaCO2, but did not alter heart rate, PaO2 or base excess values. Intravenous buprenorphine 0,2 mg (group II -- 10 patients) was associated with a less significant reduction in the rate of breathing and elevation of PaCO2. Both 0,4 mg and 0,2 mg buprenorphine produced effective relief of pain, sedation, and reduction in restlessness, and allayed anxiety. Our results suggest that intravenous buprenorphine 0,2 mg can be safely recommended for the prolonged relief of postoperative pain in adults.

Acid-Base Equilibrium↗

Periumbilical perforating pseudoxanthoma elasticum.

Periumbilical pseudoxanthoma elasticum (PXE) with transepidermal elimination of altered elastica presented a distinctive clinical pattern in six middle-aged, multiparous women. Other sites usually affected in PXE were spared. The possible genetic predisposition to PXE of these patients found its expression in the periumbilical skin, a site exposed to the trauma of multiple pregnancies. The extruded elastica had tinctorial properties that were characteristic of PXE. The clinical picture in our cases differs from clasic PXE. A peculiar acquired cutaneous PXE is not excluded.

Female↗

Neonatal syncytial giant cell hepatitis with paramyxoviral-like inclusions.

Syncytial giant cell hepatitis in the neonatal period has been associated with many different etiologic agents and may present initially as cholestasis. Infectious causes are most common and include: (1 ) generalized bacterial sepsis, (2) viral agents, (3) toxoplasmosis, (4) syphilis, (5) listeriosis, and (6) tuberculosis. Viral hepatitis may be due to cytomegalovirus, rubella virus, herpes simplex, HHV-6, varicella, coxsackievirus, echovirus, reovirus 3, parvovirus B19, HIV, enteroviruses, paramyxovirus, and hepatitis A, B, or C (rare). Giant cell hepatitis may result in fulminant liver failure with massive hepatocyte necrosis and severe liver dysfunction leading to death, resolution with severely compromised liver function, or liver transplantation. The authors report a 6-week-old male who had an unremarkable perinatal period, became jaundiced after developing diarrhea, and subsequently developed liver dysfunction with massively increased liver enzymes and a coagulopathy. Open wedge and core liver biopsies were performed to determine if the patient should be listed for liver transplantation. Giant cell hepatitis with a significant mixed lymphocytic and neutrophilic infiltrate was present on both the wedge and core biopsies. The residual 60% of hepatocytes had ballooning degeneration and many possessed pyknotic nuclei. The hepatocytes were arranged in a pseudoacinar pattern. Electron microscopy showed paramyxoviral-like inclusions in the giant cells, characterized as large inclusions with fine filamentous, beaded substructures (18-20 nm). Paramyxoviridae are nonsegmented, negative-sense, single-stranded RNA viruses. This family is divided into the Paramyxovirinae subfamily containing respirovirus (Sendai virus, parainfluenza virus type 3), rubulavirus (mumps, parainfluenza virus type 2), and morbillivirus genera (measles); and Pneumovirinae subfamily (pneumovirus genus [respiratory syncytial virus]). Supportive care to determine if hepatic function resolves following the viral episode, liver transplantation with fulminant liver failure, and ongoing evaluation in those who recover to assess chronic liver disease are necessary. Ultrastructural evaluation may unmask the etiologic agent for hepatitis and direct therapy.

Biopsy↗

Tracheomalacia in a neonate with kniest dysplasia: histopathologic and ultrastructural features.

Kniest dysplasia is an autosomal-dominant chondrodysplastic condition characterized by disproportionate dwarfism, short trunk, small pelvis, kyphoscoliosis, short limbs, prominent joints, premature osteoarthritis, and craniofacial manifestations. The craniofacial abnormalities include tracheomalacia, midface hypoplasia, cleft palate, early onset myopia, retinal detachment, prominent eyes, and sensorineural hearing loss. Radiologic features include dumbbell-shaped femora, platyspondylia with anterior wedging of vertebral bodies, coronal clefts of thoracolumbar vertebral bodies, low broad ilia, and short tubular bones with broad metaphyses and deformed large epiphyses. This form of chondrodysplasia is associated with mutations in type II collagen splicing sequences. Mutations have been identified in the COL2A1 (type II collagen) gene between exons 12 and 24. Type II collagen is the predominant structural protein in cartilage, and mutations in this collagen account for the Kniest dysplasia phenotype. Histopathologic and ultrastructural features of epiphyseal plate cartilage have been described, but tracheal cartilage in an affected neonate has not been examined. The authors report the histopathologic and ultrastructural findings of anterior tracheal cartilage from a 35-day-old female with suspected chondrodysplasia who had tracheomalacia with airway obstruction. The tracheal cartilage was moderately cellular, but lacked cystic and myxoid changes in its matrix. The chondrocytes had abundant cytoplasmic PAS-positive inclusions. Some of these inclusions were diastase-resistant and were also highlighted on Alcian blue staining. Ultrastructural examination revealed chondrocytes with greatly dilated rough endoplasmic reticulum containing granular proteinaceous material. There were also frequent aggregates of typical glycogen. The defect in the COL2A1 gene is secondary to mutations, especially at splice junctions, and this markedly disrupts triple helix formation. The mutated type II procollagen results in intracellular retention within the chondrocytes, as abundant granular proteinaceous material within the dilated RER. A relationship is known to exist between the proportion of mutated to normal type II collagen in the matrix and the severity of the phenotype. With low levels of normal type II collagen, the phenotypic manifestations become more severe, such as in achondrogenesis type II. Both the quantity and quality of type II collagen modulates the phenotypic expression of type II collagenopathies.

Airway Obstruction↗

Lipoblastoma and lipoblastomatosis in infancy and childhood: histopathologic, ultrastructural, and cytogenetic features.

Lipoblastoma is a relatively rare tumor that occurs in infancy and early childhood and arises from embryonic white fat. Although a benign tumor, lipoblastomas tend to recur and may resemble myxoid liposarcoma. The authors report 26 cases over a 15-year period at Texas Children's Hospital. There was a slight female predilection (14F:12M). The most common symptom was a painless mass with or without increasing size. The trunk, extremities, head and neck, retroperitoneum, inguinal canal, peritoneal cavity, and lung were the tumor sites. Most tumors were circumscribed lipoblastomas and the minority were diffuse infiltrative lipoblastomatosis. Reexcision for residual or recurrent tumor was necessary more frequently in patients with lipoblastomatosis. Histopathologic examination and ultrastructural examination revealed cellular neoplasms composed of immature adipocytes with relatively well-defined septa, frequent lipoblasts, a fine vascular network, and often a myxoid appearance resembling myxoid liposarcoma. Cytogenetics was performed in 4 cases with chromosome 8q abnormality being most common. The major concern with lipoblastoma in children is to completely excise the tumor to avoid leaving residual tumor and to prevent recurrences. Confusion with myxoid liposarcoma, well-differentiated liposarcoma, and typical lipomas may occur. Although asymptomatic, lipoblastomas may cause dysfunction of other organ systems due to mass effect. Complete surgical excision with at least 2 years of follow-up is the preferred therapy.

Age Factors↗

Primary malignant rhabdoid tumor of the central nervous system.

Since the initial description of malignant rhabdoid tumor (MRT) of the kidney by Beckwith in 1978, MRTs have been established as a distinct clinicopathologic entity lacking nephrogenic and myogenic differentiation. MRTs are highly aggressive neoplasms with characteristic histopathologic, immunocytochemical, and ultrastructural features. Many reports have appeared documenting primary extrarenal rhabdoid tumors (ERRTs) occurring at diverse sites, including infratentorial and supratentorial compartments of the central nervous system (CNS). The authors report 2 cases of primary CNS-MRT in young male children (6.5 and 7 years of age) and review the literature on CNS-MRTs. Neuroimaging studies showed an inhomogeneous parasagittal mass in the left anterior parietal region involving the motor strip and attached to the lateral aspect of the superior sagittal sinus in one case, and a right parietal parasagittal tumor with a cystic component in the other case. Metastatic workup, including abdominal CT, was negative in both cases. Histologic examination of the resected tumors showed irregular clusters and nests of cells with variable desmoplasia in both cases. Large areas of tumor necrosis and apoptotic tumor cells were present. Prominent eosinophilic cytoplasmic inclusions and eccentric, indented nuclei with conspicuous nucleoli characterized many of the tumor cells. Diffuse strong vimentin reactivity and focal strong reaction for epithelial membrane antigen (EMA) were demonstrated. Cytogenetic analyses reported a normal male karyotype in one case and an abnormal male karyotype with loss of both normal copies of chromosome 22 and gain of one structurally rearranged chromosome 22 in the other case. Ultrastructural examination displayed tumor cells with avoid to indented nuclei, marginated chromatin, and prominent nucleoli. Intercellular junctions were not found. Masses of cytoplasmic intermediate filaments in a characteristic whorled configuration were present. CNS-MRTs are consistently vimentin positive (100%) and usually EMA positive (90%). Glial fibrillary acidic protein, neuron-specific enolase, and S-100 protein are variably expressed. Markers for myogenous differentiation are invariably absent. Ultrastructural characteristics include aggregates of intermediate filaments. Monosomy 22 occurs in some CNS rhabdoid tumors, while most renal rhabdoid tumors are cytogenetically normal with only isolated cases having del(13q), del(11p), del(22)(q11), and unbalanced reciprocal translocation involving chromosomes 8 and 22. The prognosis for CNS rhabdoid tumors is dismal and almost two-thirds of patients are dead of disease shortly after diagnosis; one-third have been reported to be alive with disease, but have been followed for only short periods; and a single patient is reported to be free of disease at 5 years.

Brain Neoplasms↗

Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood.

In 1987, a distinctive brain tumor arising in young children was first described. This tumor contained neuroepithelial, peripheral epithelial, and mesenchymal elements, but lacked divergent tissue differentiation characteristic of malignant teratomas. It was originally designated as atypical teratoid tumor, but because of the prominent rhabdoid component, the tumor designation was modified to atypical teratoid/rhabdoid tumors (AT/RT) of infancy and childhood. AT/RTs occur most commonly in infants under 2 years of age, often have central nervous system (CNS) dissemination, do not respond to therapy, and typically are fatal within 1 year. Most are located in the cerebellum (65%), but they may arise at any CNS site. Histologically, various patterns can be present within the same tumor, but they all have a population of rhabdoid cells, and 70% contain fields typical of a primitive neuroectodermal tumor (PNET/medulloblastoma). Less frequently, malignant mesenchymal tissue and/or an epithelial component are found. Necrosis and brisk mitotic activity are common. The immunocytochemical profile is complex, but germ cell markers are consistently negative. Ultrastructural features vary and depend on the site sampled, but whorled bundles of cytoplasmic intermediate filaments are a distinctive finding in cells of the rhabdoid component. The authors report 4 AT/RTs (2 males, 2 females, age range 6 months to 4 1/2 years, 3 cerebellar, 1 cerebral). All cases showed a variety of histologic patterns with necrosis. Typical rhabdoid cells, PNET areas, undifferentiated bland large cell regions, dense connective tissue, and solid clusters of epithelial cells were present. Immunocytochemistry showed strong vimentin reactivity, whereas epithelial membrane antigen, cytokeratin, glial fibrillary acidic protein, S-100 protein, desmin, and smooth muscle actin were present to a lesser extent in most cases. Germ cell markers were negative. Ultrastructurally, many cells contained aggregates of cytoplasmic intermediate filaments, and some cells had a basal lamina on one aspect. Cells with interdigitating cytoplasmic borders were seen and rare cells had microtubules. Cytogenetic studies were normal in 2 cases. Follow-up has shown that 3 children have died of disease (< 1 year after diagnosis) and 1 child is alive with disease (18 months after diagnosis). Separation of AT/RT from PNET based on histopathologic and biologic evaluation is important, because AT/RTs are aggressive tumors with a dismal prognosis and currently there is no effective treatment. Neither clinical signs and symptoms nor radiologic features will distinguish AT/RTs from PNETs.

Brain Neoplasms↗

Argon laser curing of fluoride-releasing pit and fissure sealant: in vitro caries development.

The purpose of this study was to compare the effect of argon laser polymerization of a visible-light-cured, fluoride-releasing pit and fissure sealant on caries development in vitro. A total of twelve caries-free premolar and molar teeth was selected, and underwent a fluoride-free prophylaxis and soft tissue debridement. Cavity preparations were placed in buccal and lingual surfaces. Lingual cavity preparations were filled with the fluoride-releasing sealant (UltraSealXTplus, Ultradent) and visible light cured per the manufacturer's recommendation. Buccal preparations were filled with the fluoride-releasing sealant and argon laser cured (231 mW, 12 J/cm2 for 10 seconds). Following sealant placement, the teeth were sectioned into buccal and lingual halves. An acid-resistant varnish was placed leaving a 1 mm rim of exposed surface enamel adjacent to the sealant. The specimens were then thermocycled in synthetic saliva (500 cycles, 5 to 50 degrees C). In vitro caries lesions were formed (2.2 mM Ca, 2.2 mM PO4, 50 mM acetic acid, 5 ppm fluoride, pH 3.95). Longitudinal sections (five sections per tooth half) were obtained and evaluated by polarized light microscopy for mean outer surface lesion depths and frequency of wall lesions. Mean primary surface (outer) lesion depth was significantly decreased (ANOVA, DMR, P < .05) for the fluoride-releasing sealant with argon laser polymerization (152 +/- 16 um) when compared with visible light curing (211 +/- 23 um). Likewise, wall lesion frequency was substantially reduced for the argon laser polymerized sealants (17 percent) when compared with that for the visible light polymerized sealants (24 percent, ANOVA, DMR, P < .05). Argon laser polymerization of a fluoride-releasing pit and fissure sealant improved caries resistance markedly in the surface enamel adjacent to the sealant material. Argon laser curing enhanced the caries protective ability of the sealant along the enamel-resin cavosurface, as noted by a decrease in wall lesion frequency. Argon laser polymerization provides further caries protection against a cariogenic challenge over that afforded by fluoride-releasing sealants. Caries development around a sealant material may be hampered by the combination of fluoride release from the sealant and argon laser polymerization.

Acetates↗

Prevalence of orodental findings in HIV-infected Romanian children.

BACKGROUND: Romania, the pediatric AIDS capital of the world, has tremendous unmet dental care needs for children and adolescents with HIV infection. The purpose of this study was to assess the prevalence of orodental conditions in symptomatic HIV-positive children from Constanta, Romania. METHODS: The children underwent dental examinations and treatment at Constanta Municipal Hospital by a volunteer team of dental healthcare professionals from the United States. Oral lesions and dental caries were recorded during an 8-day period prior to initiating comprehensive dental care. RESULTS: The study population consisted of 173 children (88 males; 85 females) with a mean age of 8.8 years (range 6 to 12 years). The primary HIV risk factor was contaminated needle reuse and/or blood products (88%). The most common oral and perioral lesions included: candidiasis (29%), ulcers (15%), salivary gland disease (9%), necrotizing ulcerative gingivitis/periodontitis (5%), linear gingival erythema (4%), labial molluscum contagiosum (3%), oral warts (2%), hairy leukoplakia (2%), and herpes zoster (1%). One or more oral/perioral lesions occurred in 55% of the children. Severe dental caries was noted in the majority of children (dfs/dft 16.9/3.7 and DMFS/DMFT 8.1/3.1). Over-retention of primary teeth (25%) and delayed eruption (42%) were common. Postoperative complications included delayed clotting (common) and thrombocytopenia-induced bleeding disorders (4%). CONCLUSIONS: The oral healthcare needs of Romanian HIV-infected children are considerable, with the majority living with persistent, symptomatic oral disease.

Acquired Immunodeficiency Syndrome↗