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Biomedical subjects

J Briner

Publications and source records attributed to J Briner.

118 records · Page 7Linked to original sources

On the frequency of chromosome exchanges in a control population measured by chromosome painting.

Chromosome painting has been shown to be a valid and rapid method for quantifying structural chromosome rearrangements in human lymphocytes. The method is particularly useful for detecting stable aberrations which are difficult and expensive to quantify with classical methods. The inherent stability of translocations has enabled them to be used as a biodosimeter for chronic and temporally displaced exposure to radiation. Translocations may also be useful for quantifying chronic exposure to other environmental agents which may result in an accumulation of cytogenetic damage with age. Most exposures are chronic and occur at low rates, and conventional cytogenetic methods such as dicentric analysis are not expected to be informative. To understand the extent to which age and lifestyle factors impact the frequency of stable aberrations, we have performed chromosome painting on metaphase-arrested lymphocytes cultured from 47 healthy adults ranging in age from 19 to 77 years, and from umbilical cord blood obtained from eight healthy full-term infants. All subjects had previously been screened to eliminate those who had received significant occupational or accidental exposure to radiation or chemicals, and none had received chemo- or radiotherapy. Due to the infrequent occurrence of stable aberrations in peripheral lymphocytes, we analyzed the equivalent of more than 1100 metaphase cells from each of these 55 people. An average of one cell in 130 (0.77%) was observed to have a translocation or a stable insertion. A significant relationship between stable aberrations and the square of the age is apparent (R2 = 0.69, Y = 0.0615 + 0.000304 age2; p < 0.00001). These results support the hypothesis that stable aberrations accumulate with time, and are likely to integrate adverse environmental exposure.

Adult↗

Developmental stages of human brain: an MR study.

The differentiation of the telencephalon (TC) gyri and the myelination of TC and diencephalon were analyzed quantitatively in 50 children, 32-240 weeks' postconceptional age (PCA). For this purpose, a four-stage grading system was developed by correlating magnetic resonance images from age-matched postmortem brains with subsequently prepared myelin-stained macroslices. Gyration and myelination progressed in a occipito-rostral direction. Stages 3 and 4 myelination were recognized earlier on T1-weighted images [spin echo (SE) 500/30] than on T2-weighted images (SE 3,000/120). However, long repetition time/echo time sequences yielded better contrast and allowed finer differentiation between myelinated and nonmyelinated structures. At term, the posterior limb of the internal capsule was generally myelinated (stage 2), whereas in 50% of the children, myelin appeared in the TC between 55 and 65 weeks' PCA, e.g., between 3 and 6 months postnatally. The morphological differentiation of the brain surface preceded the biochemical maturation (myelination) by an average of 12 months. Applying such a grading system to a larger population will help establish normal standards for brain maturation and a "brain age" scale during the first 4 years of life.

Brain↗

Cervical abscess due to Capnocytophaga ochracea.

A case of a cervical lymph node abscess in a child is reported from which a pure culture of C. ochracea was isolated. This is the first reported case of such an infection due to this organism. The patient, who was not leukopenic and did not receive antibiotics, was cured following excision.

Abscess↗

Brain stem and cervical cord dysraphic lesions in iniencephaly.

Iniencephaly is a rare, lethal, axial dysraphic malformation complex diagnosed on the basis of three cardinal features: deficiency of the occipital bone, cervicothoracic spinal retroflexion, and rachischisis. The majority of the patients also have various associated viscerae malformations. An iniencephalic female fetus delivered at 35 5/7 weeks of gestation revealed severe anomalies of the central nervous system and the spine: the cerebellar vermis was hypoplastic, the medulla oblongata was flattened and broadened, and the cervical canal was widely patent dorsally. The thoracolumbar spinal cord had a duplicated central canal and lacked a dorsal fissure, representing a minor degree of diastematomyelia. The cervicothoracic spine showed severe bony anomalies including aplasia and fusion of vertebral bodies.

Abnormalities, Multiple↗

Prevalence of human papilloma virus DNA in head and neck cancers carrying wild-type or mutant p53 tumor suppressor genes.

The normal function of the p53 tumor suppressor protein can be perturbed by non-mutational mechanisms. The E6 protein encoded by high risk strains of human papilloma virus (HPV) targets the p53 protein resulting in enhanced degradation via the ubiquitin pathway. We have used nested PCR for detecting the presence of HPV DNA in 58 primary head and neck tumors and 15 metastatic lymph nodes, which had been prescreened for p53 mutations in exons 5 to 8. HPV DNA sequences were detected in 12 tumors (20.6%) and 4 metastatic lymph nodes (21%). HPV type 16 DNA was predominantly found in tumors (n = 11) and lymph nodes (n = 4), one tumor was positive for HPV type 18 sequences. Five of 12 HPV-positive tumors (41%) carried a p53 mutation. Of 46 HPV-negative tumors, 16 (34.8%) carried a p53 mutation. Thus, HPV positivity and p53 mutations were not mutually exclusive in head-and-neck cancer. Three of 6 normal tissues adjacent to the tumor were positive for HPV type 16, while no viral DNA was found in the corresponding tumors. Thus, the presence of HPV type 16 DNA did not directly confer a growth advantage on the population of emerging tumor cells. Instead, these tumors lack normal p53 function due to mutation.

DNA, Viral↗

Lymphangioma of the right kidney in an infant boy.

A 9-month-old boy with a primary cystic lymphangioma of the right kidney is reported. The clinical and radiological features favored a malignant tumor. Histology revealed the lesion to be a lymphangioma; the diagnosis was confirmed by immunohistochemistry and chemical analysis of the intracystic fluid. Lymphangiomas of the kidney are rare in adults; they are even rarer in infants and children. Nevertheless, renal lymphangiomas should be considered in the differential diagnosis of multicystic, unilateral renal masses, independent of the age of the patient.

Diagnosis, Differential↗