Evaluation of the hypothalamic–pituitary–adrenal axis in patients with antiphospholipid syndrome

Introduction: Hypothalamic–pituitary–adrenal (HPA) axis insufficiency is the most common endocrine disorder in patients with antiphospholipid syndrome (APS). Primary adrenal failure because of venous thrombosis and/or adrenal haemorrhage is the leading diagnosis, while another possible mechanism is autoimmune adrenal failure. Prospective evaluation of the HPA axis in patients with APS has not been previously performed. Aims: To evaluate the HPA axis in patients with APS. Methods: Ambulatory patients (age 18 years and older) with APS were given a symptom questionnaire. Baseline aldosterone, corticotropin (ACTH) and adrenal cortex autoantibodies (ACA) were measured. Cortisol was measured at baseline and after 1‐mcg ACTH stimulation. Results: In all, 24 patients (18 women/6 men; mean age 44.6 ± 16.1 years) participated in the study. Of these, 21 had primary APS with disease duration of 5.8 ± 6.2 years. Baseline cortisol level was 12.6 ± 4.2 mg/dl (normal 7–25). After ACTH stimulation, it was 24.7 ± 4.1 mg/dl and 22.8 ± 7.4 mg/dl at 30 and 60 min respectively. All patients had a stimulated cortisol level of at least 18 mg/dl, although three patients had stimulated cortisol between 18 and 20 mg/dl, one of which reported previous inhaled steroid treatment. Weakness, dizziness and nausea were reported at baseline by 50%, 38% and 25% of the patients respectively. ACA were negative in all patients examined. Conclusions: In our cohort, patients with APS did not have HPA axis insufficiency. Partial adrenal insufficiency could not be excluded in two patients. Further longitudinal studies are needed to determine the significance of periodic evaluation of the HPA axis in patients with APS.     

Families of 30–35‐Year Olds with Down's Syndrome

Background The families of a population sample of people with Down's syndrome (DS), and of their non‐disabled controls, have been followed since early childhood, and the families have now been seen again as their sons and daughters reached age 30 and 35 years. Methods A semi‐structured interview schedule was used, including items from the handicaps, behaviour and skills schedule [L. Wing, Acta Psychologica Scandinavica, Suppl. 285 (1980) 241] and from Holmes’ thesis (The Quality of Life of Mentally Handicapped Adults and Their Parents, 1988, PhD Thesis) relating to leisure and social life and experience of services. Results Most parents, now in their late 60s, reported good health and a satisfactory social life. Mothers’ mean stress scores were slightly higher in the Down's syndrome group than in the controls: possible explanations for this are discussed. Only one factor relating to the offspring with Down's syndrome could be shown to influence stress. Few adverse effects on the siblings were identified. Conclusions The study is in agreement with others in showing families of older people with Down's syndrome to be well‐adjusted and not unduly stressed.     

Fatal pneumococcal Waterhouse–Friderichsen syndrome

There have only been six deaths reported in the English literature due to disseminated intravascular coagulation and Waterhouse–Friderichsen syndrome complicating pneumococcemia in otherwise healthy persons with normal spleens. Four of these deaths occurred in children and two in adults. A case of fulminant pneumococcemia complicated by disseminated intravascular coagulation and Waterhouse–Friderichsen syndrome in an otherwise healthy adult with a normal spleen is presented. The case is typical of the course of fulminant pneumococcal sepsis and highlights some of the difficulties experienced by rural general practitioners and rural retrieval services. Mechanisms by which Pneumococcus can elicit fulminant sepsis are discussed, although there is no explanation as to why this may occur in the setting of normal splenic function.     

Use of a Modified Azrin–Foxx Toilet Training Procedure with Individuals with Angelman Syndrome

Incontinence of urine and faeces is commonly observed among children with intellectual disability. Although various procedures to establish toileting skills do exist, studies on their effectiveness with children with Angelman syndrome (AS) are lacking. In the present study, a procedure based on Azrin–Foxx toilet training was used to establish toileting skills in six children with intellectual disability and AS. All children showed improved toilet skills. Maintenance was documented by follow‐up recordings for up to 2.5 years. The results are discussed in terms of the specific relationship between the characteristics of trainees with AS and the present training procedure.     

Eosinophilia-Myalgia syndrome associated with tryptophan

We have reported a case of eosinophilia-myalgia syndrome associated with tryptophan ingestion. Our case meets the Centers for Disease Control surveillance definition of eosinophilia-myalgia syndrome. Our report describes clinical, laboratory, electromyographic and histologic findings that suggest this entity is a small vessel nonnecrotizing vasculitis.     

Sweet syndrome associated with furosemide

This case report describes a case of Sweet syndrome (SS) related to use of furosemide in a 46-year-old female who was admitted for treatment of congestive heart failure. Three days after administration of furosemide, the patient had a fever and a skin eruption appeared on her wrists, forearms, and legs. Biopsy of the skin lesion was consistent with SS. Infection was thought to be unlikely because of negative blood cultures, echocardiography, and other imaging studies. Careful review of her medications revealed that the patient received furosemide before the appearance of the skin eruption and fever. After discontinuation of furosemide, the patient's skin lesion and fever resolved. A MEDLINE search from June 1966 to May 2004 revealed only one reference documenting the association of SS with furosemide administration. Patients who have development of SS without an obvious cause should have their medication list closely reviewed.     

Sweet's syndrome associated with systemic inflammatory response syndrome

Septic shock is characterised by infection causing a systemic inflammatory response, end-organ failure and acute circulatory collapse. Treatment consists of antimicrobial therapy and the supportive management of multi-organ failure. We report a case of what we believed to be septic shock due to pyelonephritis in a patient whose condition continued to deteriorate despite conventional treatment until the diagnosis of Sweet's syndrome was made. Once she was started on high dose steroids, her condition improved and she made a full recovery. We believe this to be the first case of a severe systemic inflammatory response syndrome associated with Sweet's syndrome. Received: 20 January 1998 Accepted: 12 June 1998     

Sonographic findings in a fetus with megacystis-microcolon–intestinal hypoperistalsis syndrome

We describe the perinatal findings in a female fetus with megacystis-microcolon–intestinal hypoperistalsis syndrome (MMIHS). Prenatal sonography performed during 18–21 weeks' gestation showed a normal amount of amniotic fluid, but the fetus was seen to have a persistently distended stomach, a hugely distended bladder, and bilateral dilated renal calyces. Genetic analysis of amniotic fluid revealed a 46,XX karyotype. The pregnancy was terminated at 22 weeks' gestation. At necropsy, the fetus was found to have prune-belly syndrome, gastric dilatation, pronounced megacystis, bilateral hydronephrosis and megaureters, short bowel, microileum, microcolon, and malrotation of the intestines. This fetus showed the typical clinical and sonographic features of MMIHS, as well as the rare antenatal finding of persistent gastric distention. © 1998 John Wiley & Sons, Inc. J Clin Ultrasound 26:217–220, 1998.     

Patterns of Ageing in 30–35‐Year‐Olds with Down's Syndrome

Background A population sample with Down's syndrome has been studied repeatedly since infancy, and has now been followed up again at age 35 years. Methods Intelligence, language, reading and arithmetic were tested and daily living skills were assessed. Two memory tests, the Rivermead Behaviour Memory Test and Oliver and Crayton's Dementia Battery were given at age 30 years and again at age 35 years. Results Results from all the tests used showed little change from those found at 21 and/or 30 years. Small, statistically insignificant, increases in mean scores were found in reading and on the British Picture Vocabulary Scale. Means of all other measures had declined, also by small and statistically insignificant amounts. Apart from one individual, who showed dramatic declines in all areas, the rest of the cohort has continued to be stable. Conclusions These results may be characteristic of healthy adults with Down's syndrome in the fourth decade of life.