The "Line Sign" Is a Rapid and Efficient Diagnostic "Test" for Morphea: Clinicopathological Study of 73 Cases.

Histologic clues that facilitate rapid diagnosis of morphea at scanning magnification have been described but not well studied. We examined 73 cases of morphea and 42 control cases to determine the sensitivity and specificity of a novel histopathological feature-"the line sign (LS)"-a prominent, straight interface between subcutis and adjacent collagen. The sensitivity of LS was shown to be the most sensitive feature among 4 other existing histopathological features.

The exposure of fetuses and children to endocrine disrupting chemicals: a European Society for Paediatric Endocrinology (ESPE) and Pediatric Endocrine Society (PES) call to action statement.

Objective: During recent years, evidence has accumulated that both wildlife species and humans are exposed to ubiquitous endocrine-disrupting chemicals. Some are persistent in our bodies; others are nonpersistent but are produced in large quantities. Hitherto, the bulk of research in this area has been carried out by basic and experimental scientists and wildlife researchers.

Natural history of idiopathic diabetes insipidus.

Objective: To determine what percentage of diabetes insipidus (DI) in childhood is idiopathic and to assess the natural history of idiopathic DI.

Study Design: We conducted a retrospective chart review of 105 patients with DI who were born or had DI diagnosed between 1980-1989 at 3 medical centers. A second cohort of 30 patients from 6 medical centers in whom idiopathic DI was diagnosed after 1990 was evaluated retrospectively for subsequent etiologic diagnoses and additional hypothalamic/pituitary deficiencies and prospectively for quality of life.

Managing the adolescent athlete with type 1 diabetes mellitus.

Providing safe and successful diabetes management assistance and advice to an adolescent athlete is a challenging task. It should also be a rewarding task. To make accurate and useful recommendations one must gain knowledge about the athlete, the sport, the interaction of exercise and diabetes, and supporting resources.

Type 2 diabetes.

Type 2 diabetes in adolescents is reported to be increasing in prevalence. Its complications may occur dramatically earlier in patients who develop it during adolescence compared with the traditional patients who develop diabetes in middle age. It may be difficult to differentiate types of diabetes at the time of diagnosis; in this article, some helpful information will be presented to assist with that task and help with consideration of other types of diabetes.

Keloids: pathophysiology and management.

Keloid formation occurs as a result of abnormal wound healing. Despite the high prevalence of keloids in the general population, they remain one of the more challenging dermatologic conditions to manage. More than a cosmetic nuisance, they are often symptomatic and can have a significant psychosocial burden for the patient.

Acrodermatitis enteropathica and an overview of zinc metabolism.

Acrodermatitis enteropathica is a rare autosomal recessive disorder of zinc deficiency. The genetic defect has been mapped to 8q24 and the defective gene identified as SLC39A4, which encodes the zinc transporter Zip4. The diagnosis is made by way of clinical presentation together with histopathology and laboratory tests.

Melanocortin-1 receptor: loss of function mutations and skin cancer.

We present a red-haired patient who came to our clinic seeking information regarding his predisposition to skin cancer. We discuss the receptor involved in hair color and the allelic variants that lead to red hair. These variants are often characterized by loss of function mutations, which lead to a predisposition to non-melanoma skin cancers, with relative risks reaching as high as a 6.

Office management of the adolescent with diabetes mellitus.

Diabetes mellitus (DM) is a chronic metabolic disorder caused by absolute or relative insulin deficiency. It causes disturbances in carbohydrate, protein, and fat metabolism. Environmental triggers superimposed on a genetic predisposition are responsible for the clinical expression of the syndrome.

Hereditary syringomas: a case report.

Syringoma is a benign neoplasm of eccrine origin. Clinically, it is an eruption of small translucent-to-yellowish papules. These lesions are firm, smooth, and approximately 1-3 mm in diameter.

Diabetes in adolescent patients: diagnostic dilemmas.

The classification of diabetes mellitus by types (1 or 2), or by age of onset (juvenile or adult), helps to clarify many aspects of pathophysiology, prognosis, and therapy. However, less-commonly encountered patients, presenting in childhood or adolescence, may not fit neatly into one or the other group. These include teenagers who present with new-onset diabetes with ketoacidosis, but who are later able to be managed permanently as type 2 patients.

Type 1 diabetes and sports participation: strategies for training and competing safely.

Athletes with diabetes require intensive diabetes management to balance insulin, carbohydrate intake, and the effects of exercise. Effective care of active patients who have diabetes starts with a targeted preparticipation exam. Decreasing the insulin dosage may be necessary for heavier exercise programs if carbohydrate supplementation alone is insufficient.

Diabetes mellitus and sports.

The adolescent with insulin-dependent diabetes mellitus (IDDM) can safely participate in sports activities without interference from the disease. To ensure safe and successful participation, clinicians must appreciate how diabetes may alter the physiologic adaptation to strenuous exercise and how an individualized self-care plan can empower the adolescent with IDDM to effectively manage meal planning, blood glucose testing, and insulin injections. Various types of insulin, insulin schedules, and insulin delivery devices that may suit a wide variety of training and activity regimens are described.

Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction.

We present an improved method for the prenatal diagnosis of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. The polymerase chain reaction (PCR) was used to analyze DNA from an affected index case, the parents, and a cultured chorionic villus sample, for point mutations in the steroid 21-hydroxylase (CYP21) gene. We can predict that the fetus is an unaffected carrier.

Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction.

We have characterized mutations in the steroid 21-hydroxylase gene (CYP21) in salt-wasting congenital adrenal hyperplasia (SW-CAH) subjects, healthy control subjects, and affected sibling pairs with SW-CAH. To identify point mutations in CYP21, we have used an improved polymerase chain reaction methodology that allows analysis of the entire CYP21 gene. In addition, we have used polymerase chain reaction to search for abnormally spliced mRNAs resulting from putatively abnormal CYP21 genes transfected into COS1 cells.

Multiple endocrine syndrome type IIb in early childhood.

A 3-week-old girl who was born with club feet had signs of failure to thrive. On physical examination the child appeared normal; she had no abnormalities in the mucous membranes of the mouth, the eyelids, or in the neck, and her other systems, including heart, chest, abdomen, and neurologic systems, were clinically normal. Radiologically, the gastrointestinal tract was normal, but rectal biopsy showed neuromas.

Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification.

Steroid 21-hydroxylase deficiency is the leading cause of impaired cortisol synthesis in congenital adrenal hyperplasia (CAH). We have studied the structure of the CYP21B gene in 30 unrelated CAH patients using the polymerase chain reaction (PCR) to differentiate the active CYP21B gene from its highly related CYP21A pseudogene. The PCR approach obviates the need to distinguish the CYP21A and CYP21B genes by restriction endonuclease digestion and electrophoresis before analysis with labeled probes.

Myosin light chain phosphorylation in contraction and relaxation of intact rat thoracic aorta.

Myosin light chain phosphorylation in intact rat thoracic aorta was elevated during contraction induced by 0.3 microM norepinephrine, but was not maintained. Addition of 0.

Mechanisms of adenosine triphosphate-, thrombin-, and trypsin-induced relaxation of rat thoracic aorta.

The mechanisms by which adenosine triphosphate, thrombin, and trypsin cause relaxation of vascular smooth muscle were investigated. Relaxation of the rat thoracic aorta with adenosine triphosphate, thrombin, and/or trypsin was associated with increased levels of cyclic guanosine monophosphate in both time- and concentration-dependent manners. Thrombin and trypsin did not alter cyclic adenosine monophosphate levels, whereas adenosine triphosphate increased cyclic adenosine monophosphate levels after significant relaxation occurred.

Endothelium-dependent relaxation in rat aorta may be mediated through cyclic GMP-dependent protein phosphorylation.

The action of some vascular smooth muscle relaxants depends on the presence of the endothelium. We have recently shown that relaxation may be mediated through the formation of cyclic GMP. The nitrovasodilators are another class of relaxants which exert their effects through the formation of cyclic GMP, although their relaxation is independent of the presence of the endothelium.