[Diagnostic image (227). A 7-year-old boy with oedema]. / Diagnose in beeld (227). Een 7-jarige jongen met oedeem.

Protein-losing gastroenteropathy with oedema, Ménétrier's disease, was diagnosed in a 7-year-old boy.

[Non-respiratory cyanosis in the newborn]. / Niet-respiratoire cyanose bij de pasgeborene.

Four term babies, three boys and one girl, became cyanotic shortly after birth. In two cases the cause was maternal use of drugs: methemoglobinaemia due to use of a chromate and depression of the nervous system due to clomipramine. They recovered. A third child suffered cerebral infarction and was left with decreased left-arm function. The fourth child had a hypoplastic left heart and died. Central cyanosis in a newborn should be cause for concern. A thorough case history should be taken and extensive physical examination carried out. In case of doubt additional diagnostic tests should be performed.

Body composition in infants with chronic lung disease after treatment with dexamethasone.

UNLABELLED: The aim of this study was to study the effect of chronic lung disease (CLD) and dexamethasone treatment on body composition in preterm infants (birthweight < 1500 g). In addition, anthropometric measurement of body composition were compared with dual-energy X-ray absorptiometry (DXA). Fourteen preterm infants with CLD and a comparison group of 18 preterm infants were studied until 3 mo corrected age. CLD infants received approximately 20 kcal kg-1 per day extra nutritional intake during dexamethasone treatment until term. At term no differences were found between CLD and no CLD infants for percentage bone mass (1.4 +/- 0.2 vs 1.4 +/- 0.1%), fat mass (18.7 +/- 4.5 vs 17.4 +/- 3.5%), lean body mass (79.9 +/- 4.6 vs 81.2 +/- 3.5%) or bone mineral density (0.15 +/- 0.02 vs 0.15 +/- 0.01%). At 3 mo corrected age both groups were also similar for bone mass (1.6 +/- 0.1 vs 1.6 +/- 0.2%), fat mass (22.6 +/- 5.5 vs 24.5 +/- 5.7%), lean body mass (75.8 +/- 5.7 vs 74.0 +/- 5.8%) and bone mineral density (0.20 +/- 0.02 vs 0.20 +/- 0.01%). All anthropometric measurements showed a high correlation with body composition. However, calculated fat mass was 56.7 +/- 8.8% lower than fat mass measured with DXA. CONCLUSION: Body composition at term and 3 mo corrected age in preterm infants treated with dexamethasone for CLD, who received extra caloric intake until term, did not differ from that in preterm infants without CLD.

Development of the hypothalamic-pituitary-adrenal axis in the fetus and preterm infant.

The development of the hypothalamic-pituitary-adrenal (HPA) axis in the human fetus is a complex process. The feto-placental unit may be responsible for important maturational processes in vital organ systems in the fetus. A late gestational cortisol surge may be important in fetal maturation, particularly maturation of the lungs. Several striking differences exist between the function of the HPA axis in the fetus and in adults, such as a relative deficiency of 3beta-hydroxysteroid dehydrogenase in the fetal adrenal cortex. With the transition from intrauterine to extra-uterine life several changes occur in the function of the HPA axis. In infants born before term, the function of the HPA axis may still be immature at both the central and adrenal level. This immaturity of the HPA axis may be important in the development of neonatal morbidity. The present review describes the development of the HPA axis in the fetus and in preterm infants and discusses the possible role of HPA immaturity in the development of neonatal morbidity.

Fetal growth and the function of the adrenal cortex in preterm infants.

Small for gestational age preterm infants have a higher risk of neonatal morbidity compared to appropriate for gestational age preterm infants. A diminished adrenal response to stress may be involved in the higher postnatal morbidity. The adrenal cortex response in relation to fetal growth was studied by ACTH stimulation tests in 43 preterm infants (born < or = 32 wk). The cortisol and 17-hydroxyprogesterone (17-OHP) responses to 1 microg/kg ACTH were analyzed in relation to birth weight SD scores (BW-SDS) corrected for gestational age, gender, and parity. BW-SDS was significantly associated with the cortisol and 17-OHP response. Infants with the lowest BW-SDS had the lowest cortisol levels after stimulation. No effect of size at birth was found on the ratio between cortisol and 17-OHP. In addition, basal cortisone levels in a single blood sample were higher in infants with the lowest BW-SDS than in infants with higher BW-SDS, but the ratio between cortisol and cortisone was comparable in the two groups. We conclude that the response of cortisol and 17-OHP to ACTH stimulation in preterm infants is related to fetal growth. The lack of influence of fetal growth on the ratio between cortisol and 17-OHP after ACTH stimulation suggests that the activities of 21- and 11 beta-hydroxylase are not affected. The lower adrenal response to stimulation may be important in neonatal morbidity and possibly the development of disease in later life in growth-restricted preterm infants.

Glucocorticoids and lung development in the fetus and preterm infant.

During the final prenatal period of fetal lung development in humans, important maturational processes occur, including the production of surfactant necessary to decrease surface tension at the air-liquid interface of the alveoli. During early gestation, the glucocorticoid receptor is expressed in the fetal lung, and glucocorticoids stimulate the production of surfactant-associated proteins and increase phospholipid synthesis by enhancing the activity of phosphatidylcholine. Other glucocorticoid-induced effects may include stimulation of cell maturation and differentiation, inhibition of DNA synthesis, changes in interstitial tissue components, stimulation of antioxidant enzymes, and regulation of pulmonary fluid metabolism. Recently, it was suggested that glucocorticoids are also important in postnatal pulmonary development, and may be related to the development of neonatal lung disease in preterm infants. Surfactant deficiency that can be prevented by antenatal corticosteroid treatment causes infant respiratory distress syndrome and requires mechanical ventilation. Ventilation by itself or in combination with high levels of oxygen, fluid overload, pulmonary infections, sepsis, and air leak syndrome causes an acute pulmonary inflammatory reaction that may result in chronic lung disease or bronchopulmonary dysplasia. Glucocorticoids are effective in the treatment of chronic lung disease of prematurity and regulate the inflammatory response by the interaction with transcription factors such as nuclear factor kappaB and activated protein 1. Indeed, inflammatory cells and the levels of chemokines and cytokines in bronchoalveolar fluid decrease after dexamethasone treatment. However, treatment of fetuses and preterm infants with repeated and/or high doses of corticosteroids may have considerable long-term side effects on somatic, brain, and lung growth. The difficult balance between short-term gain and the possible long-term side effects of glucocorticoids in preterms remains a difficult issue.

Congenital lymphoedema of the genitalia.

UNLABELLED: Isolated congenital lymphoedema of the external genitalia in boys is extremely rare. It can have major physical and emotional consequences for the children. Three male patients with primary lymphoedema of the penis and scrotum are described. The first case presented with lymphoedema of the prepuce and the phallic skin that persisted after the age of 1 year. Circumcision and excision of the subcutaneous tissues of the phallic skin were successful in producing the appearance of a normal circumcised penis. The second case presented with oedema of both phallic and scrotal skin. At age 1 year only a pastous thickening of the prepuce remained, scrotal and phallic skin normalised spontaneously. Routine circumcision was successful with a 5-year follow up. The third case presented with persistent oedema of both the scrotum and the phallus. He suffered leakage of lymph requiring incontinence pads, with complicating skin infections recurring every 4-6 weeks at age 8 years. After complete peeling of the scrotal and phallic skin from subcutaneous tissue some leakage persisted, infections subsided. The cause of this disorder remains unknown, although hypoplasia of the lymphatic vessels is reported in most cases. In the literature, several congenital malformations have been associated with primary lymphoedema. These were not noted in our patients. Rarely, the lymphoedema regresses spontaneously. The treatment of persistent lymphoedema is surgical and consists of meticulous excision of all subcutaneous layers of the affected skin, combined with reconstruction of the penis and/or scrotum. CONCLUSION: Primary lymphoedema of the male external genitalia is an extremely rare malformation of the lymphatic vessels of unknown origin. If persistent, surgical treatment is necessary.

Endoscopic sinus surgery for nasal polyps in children: results.

Functional endoscopic sinus surgery (FESS) was performed on 21 children with nasal polyps, who had a total of 34 operations, on 65 sides. Retrospectively, we reviewed the pre-operative symptoms, pre-operative findings and results of FESS. The diagnoses were made with anterior rhinoscopy and CT scan. Allergy could be confirmed in 24%. Half of the children (52%) had been previously operated on because of nasal polyps. They had more recurrences and worse results than children who underwent primary FESS. The subjective results were good in 77% with a mean follow-up of more than two years. However, a poor correlation between subjective and objective results was noted. Minor complications were seen in 9.2% of 65 sides operated on. The specific advantages of FESS in children are discussed.

[Treatment of acute ethmoiditis according to a protocol based on clinical stage]. / Behandeling van acute etmoïditis volgens een protocol gebaseerd op het klinische stadium.

OBJECTIVE: To describe the results of application of a systematic treatment protocol, meant to reduce the risk of serious complications, when treating acute ethmoiditis. DESIGN: Prospective study. SETTING: Academic hospital of the 'Vrije Universiteit (VU)', Amsterdam, The Netherlands. METHOD: From January 1988 to March 1994, 25 children with acute ethmoiditis were admitted to the VU hospital. Eight of them had Chandler stage I, 8 stage II, 3 stage III, 3 stage IV and 3 stage V. The treatment protocol was stepwise, based on the Chandler stages and focused on intensive antibiotic treatment in combination with surgical drainage of the ethmoid complex and (or) the orbit. RESULTS: All children with ethmoiditis stages I-III were cured without rest symptoms. One patient with ethmoiditis stage IV and a pre-existent lymphatic leukaemia died of pulmonary complications of a massive fungal infection, 8 months after treatment. One patient with ethmoiditis stage V finally had permanent psychomotor retardation. CONCLUSION: The used treatment protocol offered the possibility to treat patients with acute ethmoiditis stepwise, depending on stage, with satisfying results. Especially the treatment result in patients with ethmoiditis stage V was good.

Design of a multicenter trial to evaluate long-term life-style intervention in adults with high-normal blood pressure levels. Trials of Hypertension Prevention (phase II). Trials of Hypertension Prevention (TOHP) Collaborative Research Group.

Phase II of the Trials of Hypertension Prevention (TOHP) is a multicenter, randomized trial sponsored by the National Heart, Lung, and Blood Institute designed to test whether weight loss alone, sodium reduction alone, or the combination of weight loss and sodium reduction will decrease diastolic (DBP) and systolic blood pressure (SBP) as well as the incidence of hypertension (DBP > or = 90 mm Hg, SBP > or = 140 mm Hg, and/or use of antihypertensive medications) in subjects with high-normal DBP (83 to 89 mm Hg) and SBP less than 140 mm Hg at entry. These interventions were chosen for longer-term testing with end points including hypertension prevention as well as blood pressure (BP) change based on their demonstrated short-term efficacy in reducing BP in phase I of TOHP. The phase II study population is comprised of 2382 participants (1566 men and 816 women) who are 110 to 165% of desirable body weight, allocated at random to the four treatment arms using a 2 x 2 factorial design. The trial has 80% power to detect an overall treatment effect on DBP of 1.2 mm Hg for weight loss or sodium reduction and a difference of 1.6 mm Hg between the combined intervention and placebo groups. BP observers are blinded to participant treatment assignments. Participants will be followed for 3 to 4 years. This trial may have important public policy implications concerning the ability of life-style modifications to reduce BP and prevent the development of hypertension over the long term, thereby avoiding the need for drug therapy which while effective is costly and may have side effects.

Evaluation of screening tests for colorectal cancer.

The following guidelines are proposed for the asymptomatic patient representing for routine examination. Instruct the patient to eat All Bran cereal or a similar product for breakfast for three consecutive days prior to the day of appointment. At the time of appointment the stool obtained from rectal examination or from a spontaneous bowel movement is checked for occult blood using the guaiac method. If the findings are negative, no further tests are recommended. If positive, the patient is given complete dietary instructions in a non-meat, high-residue diet with avoidance of beets, horseradish, vitamins, or aspirin-containing compounds. The patient is then given six Hemoccult or Quikcult slides and is instructed to prepare two fecal slides from each stool specimen daily for three days. If these are all negative when tested, no further studies are necessary. If one or more are positive, however, sigmoidoscopic examination and colon and upper gastrointestinal radiography should be carried out in that order. Evidence that early lesions (Duke A or B) are detected and the cure rate improved with this procedure is quite convincing.

A reappraisal of percutaneous liver biopsy in clinical practice.

The diagnostic yield of 101 consecutive percutaneous liver biopsies was assessed. Adequate tissue was obtained in most specimens. Even in the presence of an adequate specimen, other procedures were often necessary to rule out other diagnostic possibilities not explained nor completely ruled out by percutaneous liver biopsy alone. With the current diagnostic procedures available to the clinician which have low morbidity and low mortality, the use of blind percutaneous liver biopsy as an initial diagnostic step in certain types of liver disease should be reassessed.

A reappraisal of percutaneous liver biopsy in clinical practice.

The diagnostic yield of 101 consecutive percutaneous liver biopsies was assessed. Adequate tissue was obtained in most specimens. Even in the presence of an adequate specimen, other procedures were often necessary to rule out other diagnostic possibilities not explained nor completely ruled out by percutaneous liver biopsy alone. With the current diagnostic procedures available to the clinician which have low morbidity and low mortality, the use of blind percutaneous liver biopsy as an initial diagnostic step in certain types of liver disease should be reassessed.

A reappraisal of percutaneous liver biopsy in clinical practice

The diagnostic yield of 101 consecutive percutaneous liver biopsies was assessed. Adequate tissue was obtained in most specimens. Even in the presence of an adequate specimen, other procedures were often necessary to rule out other diagnostic possibilities not explained nor completely ruled out by percutaneous liver biopsy alone. With the current diagnostic procedures available to the clinician which have low morbidity and low mortality, the use of blind percutaneous liver biopsy as an initial diagnostic step in certain types of liver disease should be reassessed.