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Biomedical subjects

M E Geffner

Publications and source records attributed to M E Geffner.

At least 73 records · Page 4Linked to original sources
PubMed1986

Probable autoimmune thyroid disease and combined immunodeficiency disease.

An 8-year-old girl with combined immunodeficiency secondary to adenosine deaminase deficiency developed thyroid failure of probable autoimmune origin manifested by linear growth deceleration, marked bone-age delay, and myxedema. To our knowledge, this association has not been previously reported. Immunologic abnormalities included absolute T-cell lymphopenia and markedly reduced in vitro lymphocyte responses to phytohemagglutinin and to alloantigen in the mixed lymphocyte reaction. The diagnosis of autoimmune thyroid disease was suggested by the presence of antithyroglobulin antibodies in the serum and by decreased, patchy uptake of iodine 123 on a thyroid scan. Autoimmune thyroid disease may have developed because the immunodeficient state, with its greater deficiency of suppressor/cytotoxic T cells, allowed expression of a clone of helper T lymphocytes specific for thyroidal antigens. Thus, autoimmune disease may be more common in immunodeficient states and appropriate surveillance should be instituted.

Adenosine Deaminase↗
PubMed1986

Aortic dilation, dissection, and rupture in patients with Turner syndrome.

We report two patients with Turner syndrome who had aortic dissection and rupture, one with prior repair of coarctation. We also note the high incidence (8.8%) of unrecognized aortic root dilation in a group of 57 patients with Turner syndrome whom we prospectively evaluated by echocardiography. Our analysis and review of previously reported cases suggests that multiple risk factors may exist for aortic dissection, including coarctation, bicuspid aortic valve, and systemic hypertension, but that these need not be present. Aortic root dilation may be an additional finding that suggests the patient with Turner syndrome is also at risk. When it is present, magnetic resonance imaging visualizes the entire aorta and allows quantification of the site and degree of dilation. In patients with dissection, the aorta often exhibits pathologic evidence of cystic medial necrosis similar to the finding in patients with Marfan syndrome. Therapeutic methods to decrease risk, such as those directed toward prevention of bacterial endocarditis, blood pressure control, and perhaps prophylactic beta blockade or surgical reconstruction, may need to be considered. Patients with Turner syndrome, their families, and the physicians who care for them should be aware of the significance of unexplained chest pain, dyspnea, or hypotension as potential manifestations of aortic dissection or rupture.

Adolescent↗
PubMed1986

Persistence of insulin resistance in polycystic ovarian disease after inhibition of ovarian steroid secretion.

Six nonobese women with polycystic ovarian disease (PCOD) showed significant hyperinsulinemia, compared with controls after oral glucose (P less than 0.05). As an indicator of insulin sensitivity, in vitro proliferation of erythrocyte progenitor cells of PCOD subjects exposed to physiologic concentrations of insulin was significantly blunted (P less than 0.001). Monocyte insulin receptor binding was not impaired in the PCOD subjects. Three of the PCOD patients were treated with a long-acting gonadotropin-releasing hormone agonist for 6 months, which resulted in marked suppression of ovarian androgen secretion but no demonstrable changes in in vivo or in vitro indicators of insulin resistance. Thus insulin resistance in PCOD subjects appears to be unrelated to ovarian hyperandrogenism (or acanthosis or obesity). Although certain tissues are insulin-resistant in PCOD patients, the ovary may remain sensitive and overproduce androgens in response to high circulating insulin levels.

Adult↗
PubMed1985

Diminished in vitro responsiveness of circulating erythroid progenitor cells to insulin as an indicator of insulin resistance.

While insulin resistance is considered characteristic of extreme obesity, it may be more difficult to demonstrate in less severe forms of obesity. We studied five moderately obese individuals [mean body mass index (MBMI), 34.1 +/- 1.85 (+/- SE) kg/m2], one massively obese patient (BMI, 50.2 kg/m2), and seven age-matched normal subjects (MBMI, 22.4 +/- 0.93 kg/m2). While two of the obese patients had normal glucose tolerance, all had fasting hyperinsulinemia (P less than 0.02 vs. normal subjects) and exaggerated insulin responses after oral glucose challenge, as defined by area under the 3-h insulin response curve (P less than 0.01 vs. normal subjects). That this hyperinsulinemia represented in vivo insulin resistance was supported by the glucose and insulin responses in four individuals to an iv glucose bolus analyzed by the minimal modeling technique. Study of monocyte insulin receptors revealed no reduction in total insulin binding in the four obese patients tested. Since physiological concentrations of insulin stimulate the in vitro growth of normal human erythroid progenitor cells (EPC), we reasoned that this response might be blunted in cells from individuals with endogenous insulin resistance. The mean peak EPC proliferative response (26.7 +/- 9.11% above baseline) in the obese hyperinsulinemic group was significantly less than the corresponding mean value in the control group (92.6 +/- 5.24% above baseline, P less than 0.001). These results suggest that the minimal modeling technique is a sensitive method for the in vivo demonstration of insulin resistance in moderately obese individuals and that EPC responsiveness to physiological concentrations of insulin reflects in vivo insulin sensitivity and may be used as an in vitro indicator of insulin resistance.

Adolescent↗
PubMed1985

Associated non-ovarian problems of polycystic ovarian disease: insulin resistance.

It is evident from our current knowledge that women with PCO exhibit hyperinsulinaemia and are insulin resistant. Nevertheless, it remains to be determined whether the relationship of androgen to insulin is one of cause or effect in this syndrome. Elucidation of this mechanism may permit identification of the role of hyperinsulinism in the genesis or pathophysiology of this disorder.

Androgens↗
PubMed1984

Cystic fibrosis serum pancreatic amylase. Useful discriminator of exocrine function.

To develop a simple test for pancreatic exocrine function in patients with cystic fibrosis, we compared serum pancreatic amylase isoenzyme (P isoamylase) activity with the more complex standard tests of pancreatic function. Twenty-seven patients with cystic fibrosis, newborn to 46 years of age, were studied. All patients over 17 months old with evidence of pancreatic exocrine insufficiency, as manifested by abnormal duodenal secretions and/or abnormal 72-hour fecal fat absorption, had serum P isoamylase activity below the age-matched normal range; patients with adequate pancreatic function (aged 2 to 46 years) had P isoamylase activity in or above the normal range. Although both normal neonates and neonates with cystic fibrosis have very low levels of serum P isoamylase activity, in patients over 1 1/2 years of age serum P isoamylase activity may serve as a simple and useful discriminator of pancreatic exocrine function in patients with cystic fibrosis.

Amylases↗
PubMed1984

Insulin resistance in a young man with cystic fibrosis.

An 18-year-old man had cystic fibrosis (CF) and insulin-resistant carbohydrate intolerance characterized by (1) obesity, basal hyperinsulinemia, and hyperglucagonemia; (2) impaired oral glucose tolerance; (3) hyperinsulinemia in response to oral and intravenous (IV) administration of glucose and to IV administration of tolbutamide; (4) exaggerated gastric inhibitory polypeptide secretion following orally administered glucose; and (5) diminished sensitivity to insulin administered IV compared with other patients with CF. Both parents also demonstrate basal and stimulated hyperinsulinemia in response to orally administered glucose. The long-term outlook for patients with CF is improving, and more patients are surviving childhood. Thus, it should be recognized that an insulin-resistant form of carbohydrate intolerance may develop in patients with CF with obesity and/or genetic risk factors.

Adolescent↗
PubMed1984

Carbohydrate tolerance in cystic fibrosis is closely linked to pancreatic exocrine function.

We evaluated carbohydrate tolerance in nine thin cystic fibrosis (CF) patients and in six controls, measuring responsiveness to the following insulinotropic secretagogues: oral glucose, IV glucose, and IV tolbutamide. Glucose responses segregated patients into two groups: Group I with normal carbohydrate tolerance associated with normal to slightly increased insulin responses, and Group II with impaired carbohydrate tolerance associated with insulinopenia. This latter group included one patient with frank diabetes. The CF patients demonstrated a significant positive correlation between insulin secretion, in response to each secretagogue, and pancreatic exocrine function as measured by serum pancreatic amylase isoenzyme concentration. Pancreatic alpha-cell function, as reflected by basal plasma glucagon concentrations, also correlated well with exocrine function in the CF patients, excluding the diabetic individual. The enteroinsular axis of the CF group was intact as reflected by normal plasma gastric inhibitory polypeptide concentrations in Group I and by elevated levels, basally and in response to oral glucose, in the insulinopenic Group II patients. Furthermore, those patients with impaired tolerance demonstrated a greater magnitude of insulinopenia compared to controls following IV glucose and possibly IV tolbutamide, than following oral glucose. Thus, these data suggest that loss of carbohydrate tolerance in patients with CF, like that seen with classical chronic pancreatitis, 1) parallels the loss of exocrine function, 2) is associated with appropriate enteroinsular signaling, and 3) can be detected earlier or more easily following testing with direct IV secretagogues than following oral glucose stimulation.

Adult↗
PubMed1983

Self-monitoring of blood glucose levels and intensified insulin therapy. Acceptability and efficacy in childhood diabetes.

Prospective studies have shown that children and adolescents with diabetes have a high prevalence of serious complications and a sharp reduction in life expectancy. Recently, self-monitoring of blood glucose levels has become available and, for the first time, provides a method for determining the concentration of blood glucose with considerable accuracy. We have introduced this method of control assessment to our pediatric diabetic patient population in conjunction with a program of intensified insulin administration (two or more injections per day). This is a report of the ready acceptance of these methods by children and adolescents and their parents (53/63, or 84%). The effectiveness of this program is evidenced by a progressive and significant reduction in the percentage of glycosylated hemoglobin during a period of 18 months in a majority of the subjects. These observations suggest that improved glycemic control can be achieved in young diabetics by using multiple insulin injections and self-monitoring of blood glucose levels. Whether such control can lead to a better long-term outlook for diabetics remains to be seen.

Adolescent↗
PubMed1983

Precocious puberty and chronic renal failure.

A 7 1/2-year-old boy with chronic renal failure (CRF) experienced transient central isosexual precocious puberty. Simultaneously, he demonstrated hyperprolactinemia with galactorrhea and apparent secondary or tertiary hypothyroidism. These findings could have been a consequence of an unexplained hypothalamic dysregulation. During this period, marked linear growth ensued (8.7 cm during nine months) associated with rapid bone age advancement (four years during a 21-month period). Whereas most boys with CRF demonstrate delayed pubertal development and suppressed linear growth, our patient's transient condition demonstrated that both growth and puberty can occur in the presence of uremia.

Body Height↗
PubMed1983

Echocardiography reveals a high incidence of bicuspid aortic valve in Turner syndrome.

The most common cardiac defect in Turner syndrome has been described previously as coarctation of the aorta. We have evaluated 35 consecutive patients with Turner syndrome by clinical examination and by M-mode and two-dimensional echocardiography. Twelve patients (34%) had isolated, nonstenotic bicuspid aortic valve. A high correlation (82%) existed between the presence of a systolic ejection click and echocardiographic evidence of a bicuspid aortic valve. These data indicate that bicuspid aortic valve may be the most common cardiac anomaly in Turner syndrome.

Adolescent↗
PubMed1982

The use of theophylline as an in vivo probe of adrenocortical function.

The first step in the stimulatory action of most polypeptide hormones, including ACTH, is interaction with a specific target organ plasma membrane receptor. Theophylline, a nonspecific stimulus of several endocrine processes, does so presumably by circumventing the receptor step and directly increasing cAMP by inhibiting phosphodiesterase-mediated hydrolysis. Five patients with adrenal insufficiency, documented by a lack of cortisol secretion in response to exogenous ACTH, underwent a 4-h iv infusion of theophylline. In three of the five individuals, a significant concentration of cortisol was measured in serum for the first time. The patients who responded included one patient with the syndrome of ACTH insensitivity, one with ACTH deficiency, and one with idiopathic primary adrenal failure. Two patients with autoimmune adrenalitis failed to respond to theophylline, although one was tested very early in the course of her disease. We also noted that theophylline stimulated renin secretion and, in one patient with an intact zona glomerulosa, evoked a secondary rise in aldosterone equal to that produced by diuresis and upright posture. These studies suggest that the preservation of cortisol responsiveness to theophylline, after the loss of sensitivity to ACTH, may be relate to either the duration of the adrenal insufficiency or to the etiological mechanism. Patients with autoimmune adrenalitis may undergo more rapid and complete adrenocortical destruction, therapy losing sensitivity to both ACTH and theophylline, whereas patients with insufficient or ineffective ACTH stimulation may have receptor failure before the loss of intracellular function. Thus, responsiveness to iv theophylline may serve not only as a probe of potential adrenocortical reserve, but also as an indicator of pathogenesis.

Adrenal Cortex↗
PubMed1982

Diabetes mellitus.

Diabetes mellitus is classified into two major categories: type I, which is insulin dependent, and type II, which is not. Insulin resistance in type II diabetes may be related to impaired receptor binding in some forms of the disorder. In the past, diabetes in pregnant women resulted in high rates of maternal and infant mortality. During the past 10 years, however, better management of maternal diabetes has led to a significant sharp reduction in maternal and fetal morbidity and mortality. The long-term outcome of insulin-dependent diabetes remains gloomy, probably because adequate control of the disease has rarely been achieved. Recently, more stringent efforts have been made to achieve tighter control. Frequent monitoring of blood glucose levels at home and use of constant infusion insulin pumps may help to achieve this end until successful islet transplantation is feasible.

Animals↗
PubMed1981

Acquired methemoglobinemia.

Cases of acquired methemoglobinemia have been identified with increasing frequency in Los Angeles during the last several years. Among 18 patients, both infants and adults, the most commonly incriminated agent was silver nitrate used for topical antibacterial prophylaxis of burn wounds. One burned child died from overwhelming septicemia complicated by hypoxia with a methemoglobin level of 5.4 grams per dl. Other causative factors included nitrate-rich vegetables used in early infancy, additives in ethnic foods, and prescribed and overdosed drugs. Discontinuation of the precipitating agent and methylene blue therapy were usually followed by prompt improvement. In burned patients treated with silver nitrate, careful regular monitoring of serum methemoglobin levels and early initiation of specific therapy are mandatory.

Adolescent↗
PubMed1980

Phosphate poisoning complicating treatment for iron ingestion.

A 15-month-old child was treated for iron intoxication with a hypertonic sodium phosphate mixture. Clinical deterioration manifested by fever, obtundation, abdominal distention, dehydration, and hypotension followed soon after the administration of this mixture. Such symptoms may occur with either iron overdosage or with phosphate poisoning. At this time, the patient's serum chemistry values included: iron, 49 micrograms/dL; phosphorus, 24.6 mg/dL; and calcium, 4.5 mg/dL. The hypocalcemia, hyperphosphatemia, and dehydration were treated with parenteral gluconate calcium, intravenous fluids, and general supportive measures. Although the child had an uneventful recovery despite severe phosphate poisoning, therapeutic alternatives, such as sodium bicarbonate, should be used as adjuncts in the treatment of acute iron ingestion.

Adolescent↗