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Biomedical subjects

A B Hayles

Publications and source records attributed to A B Hayles.

At least 19 recordsLinked to original sources
PubMed1986

Familial insulin resistance and acanthosis nigricans. Presence of a postbinding defect.

Type A insulin resistance, associated with acanthosis nigricans and menstrual irregularity, has been ascribed to a decreased concentration of insulin receptors. We now report four affected females from one family, a mother and three daughters (including identical twins) who appear to have the type A syndrome. Two of the kindred had no apparent ovarian dysfunction, while the other two had hyperprolactinemia without other findings of polycystic ovary disease, suggesting a genetic disease with variable penetrance. All had normal erythrocyte and monocyte insulin binding. Insulin dose-response studies to assess glucose metabolism and insulin sensitivity were performed in the affected twins. The dose response to insulin was shifted to the right with a decrease in maximal response. These results are consistent with a postbinding defect in insulin action in these patients.

Acanthosis Nigricans↗
PubMed1985

The hypothalamus and pituitary in cerebral gigantism. A clinicopathologic and immunocytochemical study.

Cerebral gigantism, or Sotos' disease, is a rare disorder of unknown cause characterized by the early onset of excessive growth, acromegalic features, and some degree of mental retardation. Although several endocrinologic abnormalities have been described in such patients, none has been specific or sufficient to explain the clinical features. Our report of the endocrinologic and pathologic aspects in a young woman with Sotos' disease includes the first microanatomic study of the hypothalamus and immunocytochemical examination of the pituitary gland in this disorder.

Autopsy↗
PubMed1979

Childhood Cushing disease: results of bilateral adrenalectomy.

In view of the published reports of the successful correction of hypercortisolism in adult patients with Cushing disease by external pituitary irradiation and transsphenoidal pituitary microsurgery, leaving the patients with intact pituitary and adrenocortical function, we have reviewed the results of adrenalectomy in childhood Cushing disease seen at the Mayo Clinic. Twenty-seven patients were treated with total (16 patients) or subtotal (11 patients) bilateral adrenalectomy before the age of 20 years. Follow-up ranged from one to 27 years. Although hypercortisolism was corrected in all but one patient, 12 (45%) patients had roentgenographic evidence of a pituitary tumor and six (22%) of these required pituitary surgery. An additional six patients (22%) were pigmented, but had no abnormality on roentgenographic studies. The remaining nine patients (33%) were well, without evidence of pituitary tumor. We conclude that alternate forms of therapy should be considered for childhood Cushing disease.

Adolescent↗
PubMed1979

Albright's syndrome with rickets.

Four patients are reported who had Albright's syndrome, hypophosphatemia, and inappropriately low renal tubular reabsorption of phosphate. Three of the patients had radiologic evidence of rickets or osteomalacia, and the fourth had a bone biospy, which showed microradiographic evidence of a previous mineralization defect. Serum parathormone values were elevated before treatment in two patients. Intravenous infusions of calcium in one patient, and of calcium and parathormone in a second patient, showed appropriate target-organ responsiveness. Patients generally showed radiologic improvement of rickets after treatment with large doses of vitamin D, but such treatment failed to restore normal serum values of phosphorus and alkaline phosphatase. It is postulated that a substance elaborated from the dysplastic bone may be interfering with phosphate reabsorption in the renal tubule.

Adult↗
PubMed1978

Collaborative study of the effects of human growth hormone in growth hormone deficiency. V. Treatment with growth hormone administered once a week.

Twenty-two GH-deficient patients received 6 IU GH weekly for 6 months. They increased their growth rate from 1.0 +/- 0.2 to 2.9 +/- 0.3 (SE) cm/6 months (P less than 0.01). However, their rate of growth was significantly less (P less than 0.05) than the rate [4.1 +/- 0.5 (SE) cm/6 months] observed earlier when they had received 2 IU GH three times a week. Seven patients received weekly GH for 18 months and they also grew significantly less (P less than 0.01) than when they had received GH divided over the week. These results suggest that once a week GH does not provide the most effective therapy for GH deficiency.

Drug Administration Schedule↗
PubMed1978

Multiple endocrine neoplasia, type 2b.

Multiple endocrine neoplasia, type 2b, is a disorder of unknown etiology with major involvement of the thyroid and adrenal glands, the autonomic nervous system, and connective tissue. It is transmissible with an autosomal dominant pattern of inheritance, but since most cases are not familial, they presumably represent mutations. The thyroid gland exhibits bilateral medullary carcinoma, which is a metastasizing lethal neoplasm in the syndrome requiring total thyroidectomy once abnormal basal or stimulated concentrations of plasma immunoreactive calcitonin have been demonstrated. The adrenal medullary tumors--pheochromocytomas--although rarely malignant, are potentially lethal because of their cardiovascular effects. Since the adrenal involvement is usually bilateral, total bilateral adrenalectomy with excision of any extraadrenal paraganglioma is the surgical treatment. Parathyroid hyperplasia occurs rarely in the syndrome. Treatment of it should be conservative, that is, limited to excision of enlarged parathyroid glands. Major portions of the autonomic nervous system, both sympathetic and parasympathetic, nerves and ganglia, exhibit hypertrophy, hyperplasia, and disorder of structure--a group of changes designated ganglioneuromatosis. This may be largely responsible for the striking eye and oral findings--the hallmarks of the syndrome--and also for some of the serious symptoms and complications of the syndrome, particularly those referable to the alimentary tract. Ganglioneuromatosis is also found in the salivary glands, pancreas, gallbladder, upper respiratory tract, and urinary bladder. The connective tissue abnormality is manifested by increased growth of long bones, ribs, and skull, resulting in a marfanoid habitus, and also by skeletal and joint abnormalities together with increased laxity of ligaments. Ninety cases of MEN 2b have been reported, and although follow-up information is incomplete, 27 patients (30 percent) are known to be dead because of the syndrome. The causes of death have been medullary thyroid carcinoma (15 deaths), pheochromocytoma (10 deaths), and alimentary tract complications (2 deaths). An additional 21 patients (22 percent) are known to have metastatic MTC. We are aware of only 2 patients who, 5 years after thyroidectomy, have apparently been cured of MTC, but both are still at risk for adrenal medullary disease. MEN 2b is, therefore, a very serious disorder that requires urgent treatment of the endocrine tumors. Fortunately, the majority of patients with the syndrome are easily recognized because of an abnormal phenotype typified by thick, bumpy lips and a marfanoid habitus. Since these findings signal high risk for the potentially lethal endocrine neoplasms, patients having the characteristic appearance need evaluation of thyroidal C-cell and adrenal medullary function.

Adrenal Gland Neoplasms↗
PubMed1977

Simultaneous adrenal and cervical pheochromocytomas in childhood.

Pheochromocytoma is an uncommon tumor in childhood. The simultaneous occurrence of adrenal and cervical pheochromocytomas is a rare phenomenon; to our knowledge, this combination has been reported in the literature only once. Cervical pheochromocytomas are more accurately termed "aorticosympathetic paragangliomas." In children, 50% of pheochromocytomas are bilateral, multiple, or extra-adrenal. An increased familial incidence in the form of simple mendelian dominance is also noted in the pediatric age group. Bolus nephrotomography is extremely effective in identifying adrenal pheochromocytomas in children. To prepare the patient for surgery, and alpha-adrenergic blocking agent is administered from 7 to 10 days before operation and a beta-blocking agent is administered 3 days before. A transabdominal approach is essential because of the frequent extra-adrenal sites and multicentricity of the tumor in children.

Adolescent↗
PubMed1977

Collaborative study of the effects of human growth hormone in growth hormone deficiency: IV. Treatment with low doses of human growth hormone based on body weight.

In order to define the minimum effective dose of human growth hormone (GH) in growth hormone deficient children, GH was administered to three groups of patients based on their body weight. Five children who received 0.01 International Unit (IU) GH/kg three times a week (tiw) failed to respond with a significant increase in their rate of growth. A dose of 0.03 IU GH/kg tiw increased the growth rate of 12 patients from 3.5 +/- 0.4 (SE) cm/year to 6.4 +/- 0.4 (SE) cm/year (P less than 0.001) during the first 12 months of therapy. Eight children (67%) larger than or equal to 6.0 cm/year. A similar increase growth rate from 3.6 +/- 0.4 (SE) cm/year to 7.3 +/- 0.4 (SE) cm/year (P less than 0.001) was observed over the first 12 months of therapy in 16 growth hormone deficient children who were given 0.06 IU GH/kg tiw. Thirteen children (81%) grew larger than or equal to 6.0 cm/year. During a second year of treatment, children receiving either 0.03 or 0.06 UI GH/kg tiw again showed a significant increase in their rate of growth. However, the response was significantly less than that observed during the first year of treatment. Comparison of these results with those available in the literature suggests that the most efficient, although not necessarily the optimal, initial dose of GH in children with growth hormone deficiency is 0.06 IU GH/kg administered three times a week.

Adolescent↗
PubMed1977

Feminizing adrenal adenoma in a boy. Case report and literature review.

Feminizing adrenal tumors in young boys are rare; such patients initially show bilateral gynecomastia, and may have signs of virilization. We present a patient with bilateral gynecomastia, left adrenal adenoma, and elevated estrogen levels but normal levels of 17-ketosteroids.

17-Ketosteroids↗
PubMed1977

Lipoblastomatosis: a tumor of children.

A 10-month-old boy with circumscribed lobular lipoblastomatosis of the trunk was examined and treated at the Mayo Clinic. This is only the third case of lipoblastomatosis at our institution. The diagnosis depends on the pathologist, and the lesion must be differentiated from low-grade liposarcoma. Effective treatment involves adequate local excision and local reexcision for recurrence.

Child, Preschool↗
PubMed1977

Alimentary tract manifestations of multiple endocrine neoplasia, type 2b.

Alimentary tract manifestations were found in all of 17 patients with multiple endocrine neoplasia, type 2b. The manifestations are important because (1) they were chronic, (2) they were severe and led to abdominal operation in 5 patients, (3) they antedated detection of the endocrine neoplasms in the syndrome in 16 patients (94%), and (4) they provided clinical clues that stimulated search for thyroidal C-cell and adrenal medullary disease in 6 patients. The alimentary tract manifestations were diverse: symptoms included constipation, diarrhea, difficulty with feeding, projectile vomiting, crampy abdominal pain, and loud borborygmi; findings included thickened lips, nodules on the anterior third of the tongue, abdominal distention, visible peristaltic waves, and roentgenographic evidence of megacolon or diverticulosis of the colon or of dilatation of the small intestine and stomach. Initial misinterpretation or failure to realize the significance of one or more of these alimentary tract manifestations led to suspicion of aganglionic megacolon (three patients), malabsorption syndrome (two patients), and tracheal ring (one patient).

Abdomen↗
PubMed1976

Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2b.

Although the syndrome of multiple endocrine neoplasia, type 2b, is known to comprise mucosal ganglioneuromatosis, medullary thyroid carcinoma, pheochromocytoma and skeletal anomalies, we wish to document the importance of the alimentary-tract components. In nine patients with this syndrome, we found diffuse ganglioneurmatosis extending from the lips to the rectum. Alimentary symptoms, constipation or diarrhea or both were present in six of these patients. Similar symptoms were present in six of seven other affected patients from whom alimentary-tract tissue was not obtained. Five of the 16 patients had megacolon, which led to operation in four, and a sixth patient had colectomy for diverticulitis complicating diffuse diverticulosis. The alimentary manifestations warrant greater emphasis, not only because they were prominent in the patients whom we studied but also because in 14, these manifestations were present before the endocrine neoplasms were detected.

Adolescent↗