1/8. Diagnostic utility of metabolic exercise testing in a patient with cardiovascular disease.Disproportionate exercise limitation in patients with cardiovascular disease is a common problem faced by clinical cardiologists and other physicians. Symptoms may be attributed to psychological factors or hypothetical pathophysiological mechanisms that are difficult to confirm clinically. This case report describes how the use of metabolic exercise testing in a 28 year old woman with morphologically and haemodynamically mild hypertrophic cardiomyopathy and severe exercise limitation led to the diagnosis of an alternative cause for the patient's symptoms, namely a primary disturbance of the mitochondrial respiratory chain probably caused by a nuclear encoded gene defect.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
2/8. Volvulus of the stomach in childhood: the spectrum of the disease.INTRODUCTION: During a 5-year time frame, five cases of symptomatic gastric volvulus were diagnosed and treated in our department. Four presented with the acute form of gastric volvulus and underwent emergency surgery. The fifth suffered the chronic variant of the syndrome and was benefited by nonoperative management. The cases serve to remind emergency physicians of the spectrum of gastric volvulus. The report supplements the sparse clinical description in the emergency literature. RESULTS: In the operated patients, there were no postoperative complications. The outcome, to the time of publication, has been good in every instance. The history, etiology, presentation, and treatment of the disease are discussed in detail. CONCLUSIONS: Not infrequently, gastric volvulus in children fails to exhibit the full gamut of signs and symptoms such as abdominal distension, vomiting, pain, and retching. For this, as well as for other stated reasons, symptomatic gastric volvulus in infancy and childhood may not be as rare as is commonly assumed.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
3/8. Megacystis-microcolon-intestinal hypoperistalsis syndrome. Antenatal appearance in two cases.Two cases with severe congenital megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) are presented. This is a rarely encountered syndrome in neonates and 45 cases have earlier been reported. The disease is usually lethal and it now seems clear that MMIHS is an autosomal recessive disorder. The enlarged bladder, typical of this syndrome, is however easy to define by ultrasound, sometimes even in early pregnancy. The concomitant finding of a dilatation of the urinary tract and the absence of oligohydramnios may lead the physician to suspect the diagnosis. Because of the information available from sonography, appropriate investigations can be undertaken immediately after delivery. Prenatal ultrasound examination in subsequent pregnancies is recommended.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
4/8. tracheomalacia and bronchopulmonary dysplasia.Wheezing in the infant with bronchopulmonary dysplasia results from various pathophysiologic mechanisms, including upper or central airway obstruction. We report an infant with bronchopulmonary dysplasia who presented with episodic wheezing associated with hypoxia and bradycardia without evidence of stridor. bronchoscopy revealed the presence of tracheomalacia. Upper or central airway obstruction, if undiagnosed, may be life-threatening. We suggest that wheezing with hypoxia and bradycardia in neonates should alert the physician to the possibility of tracheomalacia, even in the absence of audible stridor. Infants presenting with these symptoms should undergo bronchoscopy to confirm the diagnosis.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
5/8. Intestinal laceration secondary to clamping of an occult omphalocele.An omphalocele is a congenital defect of the abdominal wall, through which intestines and other intraabdominal organs protrude outside the abdominal cavity. The defect in the abdominal wall is covered by a translucent sac composed of peritoneum internally and amniotic membrane externally, through which the viscera can be seen. Such an anomaly is obvious and easily recognized at birth when the defect in the abdominal wall is large, but a small defect, also designated as umbilical cord hernia, is often unnoticed and may, when the cord is clamped, result in an iatrogenic laceration of the gut. We report such an encounter to alert the physician and suggest a method to prevent the iatrogenic misadventure. A careful follow-up of the child, including developmental evaluation, is presented and compared with her healthy twin. A review of the relevant literature shows that the anomaly is not rare and that there is often a delay of several days in establishing the correct diagnosis, leading to a fatal outcome in some cases.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
6/8. Epileptic fit: the most dramatic sign of tuberous sclerosis.This rare disease of dominant inheritance is described with the symptom triad of epilepsy, mental deficiency (oligophrenia) and adenoma sebaceum. The skin manifestation may be manifest in the first year, but the parents seek the help of the physician only when the dramatic symptom of convulsion occurs.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
7/8. staphylococcal infections in patients with atopic dermatitis.Cutaneous staphylococcal infections appear to be relatively infrequent in atopic dermatitis even though patients have broken skin heavily colonized with staphylococcal organsism. We found superficial staphylococcal pustules on the skin of 22 patients with atopic dermatitis. Such lesions were more commonly found with severe exacerbations of atopic dermatitis. They appeared on unbroken skin independent of hair follicles and were associated with considerable pruritis. Such lesions were rapidly removed by excoriation and frequently were overlooked by patients and physicians. Most lesions appeared when polymorphonuclear leukocyte chemotaxis was depressed. Ineffective chemotaxis combined with high-colonization density and inadequate stratum corneum barrier during exacerbations of atopic dermatitis may lead to mild staphylococcal infections. These infections appear to have no systemic effects but possibly the considerable associated pruritis could worsen the atopic dermatitis. Occasional patients may require intermittent or continuous antibiotic therapy.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |
8/8. Hyperthyroid Graves' disease and primary hypothyroidism caused by TSH receptor antibodies in monozygotic twins: case reports.A 33-year-old woman with signs and symptoms of hypothyroidism, including increased thyroid stimulating blocking antibody (TSBAb) activity, was referred for treatment by her local physician. Her monozygote twin was treated for hyperthyroid Graves' disease 10 years earlier. This case of hyperthyroidism and hypothyroidism in identical twins suggests the involvement of environmental factors in the pathogenesis of autoimmune thyroid diseases.- - - - - - - - - - ranking = 1keywords = physician (Clic here for more details about this article) |