Case report 438: Osteolytic phase of Paget disease affecting the ulna in case 1 and the humerus in case 2.
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Adult↗
Biomedical subjects
M L Mitchell
Publications and source records attributed to M L Mitchell.
Somatomedin-C/insulin-like growth factor-1 in infants with congenital hypothyroidism during the first week of life.
Levels of somatomedin-C/insulin-like growth factor-1 (Sm-C/IGF-1) were determined in whole blood collected on filter paper from 41 newborns with congenital hypothyroidism and 183 full-term neonates with normal thyroid function. The mean Sm-C/IGF-1 value of the untreated hypothyroid infants (0.10 U/ml) was virtually identical with that of the normal controls (0.11 U/ml). We are unable to confirm earlier findings of others that Sm-C/IGF-1 concentrations are lower in hypothyroid newborns than in normal infants.
Congenital Hypothyroidism↗
A method for cytologic examination of cartilaginous lesions.
Chondrocytes, dissociated from their matrix with trypsin and clostridial collagenase, retain their cytologic integrity. Successful preparations have been made from postmortem as well as surgical specimens. The method may lend itself to diagnosis of both neoplastic and developmental lesions.
Cartilage↗
Radioimmunoassay of somatomedin-C in filter paper discs containing dried blood.
We describe a simple radioimmunoassay (RIA) for estimating concentrations of somatomedin-C (Sm-C) in dried blood on filter paper. A single 3.2-mm blood spot specimen on filter paper is eluted overnight into buffer containing antibody and 125I-labeled Sm-C. The following day, bound and free hormones are separated by addition of goat anti-rabbit gamma globulin in 60 g/L polyethylene glycol solution. The correlation between values obtained for such blood-spot discs and the corresponding wet plasma is highly significant (r = 0.90, p less than 0.001). The relative concentrations (arbitrary units) of Sm-C as determined for specimens on filter paper from mothers and infants, and for cord bloods, are similar to those reported by others using acidified serum.
Adult↗
Metastatic and pseudomalignant osteoblastoma: a report of two unusual cases.
Two unusual cases of osteoblastoma with different responses to radiation therapy are reported. A 15-year-old boy with an aggressive osteoblastoma of the ilium was treated initially with curettage and subsequently with radiation and systemic chemotherapy. The patient died 35 months after his initial presentation with distant metastases which were verified at autopsy. A 12-year-old girl developed a lesion of the femur with clinical and histologic features of aggressive osteoblastoma. Amputation was recommended at the time of recurrence, but the patient declined and radiation therapy was given. The patient was alive and well 14 years after her initial presentation. These cases highlight the biologic diversity of osteoblastoma-like lesions and illustrate the difficulties which may be encountered in attempting to differentiate between benign and malignant forms of this tumor.
Adolescent↗
Prolactin levels in hypothyroid and euthyroid infants during the first week of life.
A radioimmunoassay (RIA) procedure was devised for the estimation of PRL in eluates of dried whole blood from filter paper. Levels of PRL were measured in newborn blood obtained during the first week of life from 530 infants of normal birthweight (greater than 2500 g) with normal T4 values, 114 infants of normal birthweight with low T4 values (T4 less than 6.0 micrograms/dl), 47 infants with congenital hypothyroidism, 57 infants of low birthweight (less than 2500 g) with normal T4 values, and 114 infants of low birthweight with low T4 values. Examination of PRL concentrations among comparably aged infants from the various groups revealed that the mean PRL values of the hypothyroid group were consistently greater than those of any of the other groups of infants regardless of the mean T4 levels. With the exception of the hypothyroid infants, the groups with both the lowest mean T4 concentrations and mean body weights also had the lowest mean PRL values.
Birth Weight↗
Cutting costs of prolactin estimations in dried blood on filter paper.
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Costs and Cost Analysis↗
Cytologic criteria for the diagnosis of pancreatic carcinoma.
Fine-needle aspiration and endoscopic aspiration of pancreatic cells permit the diagnosis of pancreatic carcinoma and avoid the complications and morbidity of pancreatic biopsy. In this study, the accuracy of fine-needle and endoscopic aspiration were compared, and cytologic criteria for pancreatic carcinoma were sought. Pancreatic cytologic preparations from 79 patients, including 39 fine-needle aspirates and 48 endoscopic aspirates, were retrospective reviewed. When compared with definitive tissue diagnosis or clinical course, fine-needle aspiration had a sensitivity for pancreatic carcinoma of 79%. Endoscopic aspiration of pancreatic secretions had a sensitivity of only 33%. There was a single falsely suspicious fine-needle aspirate, but there were no false positive diagnoses when using either collection technic. Seventeen cytologic features were examined to determine cytologic criteria of malignancy. The presence of disoriented or crowded cells in three-dimensional groups, and extreme nuclear enlargement combined with nuclear contour irregularity were the best criteria for pancreatic malignancy.
Adenocarcinoma↗
Fibrous hamartoma of infancy.
A case of fibrous hamartoma of infancy occurring in the scalp of a 14-month-old is described. Light microscopy revealed features similar to those described previously. Electron microscopic studies revealed cells with ultrastructural characteristics of both fibroblasts and possibly myofibroblasts. In addition, occasional fusiform banded fibers (Luse bodies) were identified. This is the first reported case of a fibrous hamartoma of infancy in the scalp and the first description of its ultrastructural features.
Hamartoma↗
The current status of newborn screening.
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Bacteriological Techniques↗
Coronary artery injury by a valved external conduit.
A 4-month-old infant underwent repair of type I truncus arteriosus and died immediately after as a consequence of left main coronary artery compression by the metallic stent in the Dacron conduit. To avoid injury to the coronary vasculature, the future location of the porcine valve ring should be assessed and relocated if necessary.
Bioprosthesis↗
Mannosidosis: two brothers with different degrees of disease severity.
Two siblings with different degrees of mental retardation, skeletal dysplasia, coarse facies, delayed speech, motor incoordination, recurrent respiratory infections, and immunological abnormalities, were found to have deficient alpha-mannosidase activity. Cultured skin fibroblasts in one sib were markedly deficient in alpha-mannosidase while all other lysosomal enzymes tested were within the normal range. The more severely affected sib came to autopsy and was found to have "washed-out" appearing cortical neurons and marked histiocytosis effacing lymph node architecture and partially replacing the bone marrow. The post-mortem brain and liver samples demonstrated a deficiency in alpha-mannosidase relative to the elevations of other lysosomal enzymes. Although the patterns of abnormalities in the two cases closely match those of descriptions of "type II" and "type I" mannosidosis respectively, the variation should be due to genetic modifiers or environmental effects since the brothers must have shared similar alpha-mannosidase mutations. Immunologic abnormalities present in the more severely affected sib suggest that the differential survival seen in mannosidosis types I and II may be due to differences in their immune systems.
Abnormalities, Multiple↗
Radioimmunoassay of thyrotropin and thyroxine in dried blood by use of Staphylococcus aureus containing "protein A.".
We report the use of Staphylococcus aureus rich in protein A as an immunoadsorbent in the radioimmunoassay of thyrotropin and thyroxine in blood collected from newborn infants and dried on filter paper. The procedures for thyrotropin and thyroxine, which differ mainly with respect to concentration and volume of the Staphylococcus aureus suspension, are reliable, rapid, and technically simple. The ease of this method, coupled with its dependability, offers certain advantages over some of the commonly used techniques of separation, and therefore it provides a unique approach to measurement of these analytes in laboratory screening programs for neonatal hypothyroidism.
Blood Specimen Collection↗
Screening for congenital hypothyroidism: results of screening one million North American infants.
Pilot programs for screening of newborn infants for congenital hypothyroidism began in North America in 1972. To date, the five oldest programs (Quebec, Pittsburgh, Toronto, Oregon Regional, and New England Regional) have screened 1,046,362 infants. A total of 277 infants with congenital hypothyroidism have been detected and seven have been missed, resulting in a total of 284 affected infants in the screened population and an overall incidence of one in 3,684 live births. Of the affected infants, 246 were determined to have primary hypothyroidism, an incidence of one in 4,254 births. Ten infants with secondary-tertiary hypothyroidism were detected in Quebec, Oregon, and Toronto, an incidence of one in 68,200 births. Of all the infants with primary hypothyroidism who were adequately studied, 63% were determined to have aplastic or hypoplastic glands, 14% normal or enlarged glands, and 23% ectopic thyroid tissue. The estimated minimum incidence of infants with TBG deficiency is one in 8,913 births. Only 8 of the 277 detected infants were suspected clinically to have congenital hypothyroidism prior to the time of confirmation of the diagnosis at 4 to 8 weeks of age. The cost of screening varied from $0.70 to $1.60 per infant, depending on which costs were included in the estimate. Preliminary evidence from Quebec suggests that infants treated in the program have normal developmental testing scores at 18 months of age.
Alpha-Globulins↗
Regional newborn screening for hypothyroidism.
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Humans↗
Screening for congenital hypothyroidism. Results in the newborn population of New England.
During the first year of operation, the New England Regional Hypothyroidism Screening Program determined the concentration of thyroxine (T4) levels in dried blood on filter paper from 129,028 infants born in Connecticut, Maine, Massachusetts, New Hampshire, and Rhode Island. Specimens from approximately 3,800 neonates were found to have levels of T4 below the lower limit of normal (less than 6.0 microgram/dl) and were assayed for thyroid-stimulating hormone (TSH) content. Levels of TSH were elevated (greater than 20 muU/ml) in 31 infants, 23 of whom eventually proved to have unequivocal hypothyroidism. Based on these figures and including two hypothyroid infants who were not tested, the incidence of congenital hypothyroidism in the New England region is approximately 1:5,200 births. The estimation of T4 values supplemented by measurement of TSH values on specimens with low T4 values has proved to be a satisfactory approach to large-scale screening for congenital hypothyroidism.
Congenital Hypothyroidism↗
Transient suppression of growth hormone secretion after chronic ethanol intake.
Fifty-two percent of patients with chronic heavy intake of ethanol had an abnormally low growth hormone (GH) response to propranolo-glucagon. The effect of ethanol is transient, since the GH response was normal in patients studied 2 wk or more after withdrawal of ethanol. The low GH response was not due to a difference in the levels of glucose or insulin. Ethanol probably suppresses the GH response by acting on the hypothalamus or pituitary gland. Along with previous data suggesting transient ACTH deficiency in chronic alcoholic patients, our findings suggest that these patients may have multiple hypothalamic-pituitary deficiencies.
Adult↗