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Objective: To evaluate the short term effects on nutritional status of home intravenous anti-pseudomonas antibiotic courses in cystic fibrosis (CF) patients chronically colonised with Pseudomonas aeruginosa.Design: A prospective study involving 38 CF patients, mean age 10.9 (SD 4.3) years (range 4.3 to 22.2 years), presenting with pulmonary exacerbations of P aeruginosa infection. The patients received a 14 day antibiotic course of intravenous ceftazidime (200 mg/kg/day) and either amikacin (35 mg/kg/day) or tobramycin (15 mg/kg/day). Nutritional evaluation on days 1 and 14 involved measurements of weight, weight/height ratio (per cent of predicted value), energy intake (per cent of recommended daily allowances), serum prealbumin, and body composition assessed by two methods: bioelectrical analysis (BIA) and skinfold anthropometry. The non-parametric Wilcoxon t test was used for statistical analysis, with a Bland-Altman plot to assess the degree of agreement between the two methods of evaluating body composition.Results: Weight increased by 1.0 (0.8) kg (p < 0.001); weight/height increased from 94.4(12.2)% to 98(12.7)% (p < 0.001), energy intake from 107(32)% to 119(41)% (p < 0.02), and prealbumin from 183 (63) to 276 (89) mg/l (p < 0.001). Fat mass increased by 0.8 (1.0) kg (p < 0.001), without any significant change in fat-free mass. The limits of agreement between BIA and anthropometry were -0.7 kg and +1.1 kg.Conclusions: Antibiotic courses allow an improvement in nutritional status in CF patients, with a gain in fat mass. [ABSTRACT FROM AUTHOR]

Fungal respiratory colonization of cystic fibrosis (CF) patients emerges as a new concern; however, the heterogeneity of mycological protocols limits investigations. We first aimed at setting up an efficient standardized protocol for mycological analysis of CF sputa that was assessed during a prospective, multicenter study: "MucoFong" program (PHRC-06/1902). Sputa from 243 CF patients from seven centers in France were collected over a 15-month period and submitted to a standardized protocol based on 6 semi-selective media. After mucolytic pretreatment, sputa were plated in parallel on cycloheximide-enriched (ACT37), erythritol-enriched (ERY37), benomyl dichloran-rose bengal (BENO37) and chromogenic (CAN37) media incubated at 37 °C and on Sabouraud-chloramphenicol (SAB27) and erythritol-enriched (ERY27) media incubated at 20-27 °C. Each plate was checked twice a week during 3 weeks. Fungi were conventionally identified; time for detection of fungal growth was noted for each species. Fungal prevalences and media performances were assessed; an optimal combination of media was determined using the Chi-squared automatic interaction detector method. At least one fungal species was isolated from 81% of sputa. Candida albicans was the most prevalent species (58.8%), followed by Aspergillus fumigatus (35.4%). Cultivation on CAN37, SAB27, ACT37 and ERY27 during 16 days provided an optimal combination, detecting C. albicans, A. fumigatus, Scedosporium apiospermum complex and Exophiala spp. with sensitivities of 96.5, 98.8, 100 and 100%. Combination of these four culture media is recommended to ensure the growth of key fungal pathogens in CF respiratory specimens. The use of such consensual protocol is of major interest for merging results from future epidemiological studies.

Background: The incidence of childhood type 1 diabetes (T1D) incidence is rising in many countries, supposedly because of changing environmental factors, which are yet largely unknown. The purpose of the study was to unravel environmental markers associated with T1D., Methods: Cases were children with T1D from the French Isis-Diab cohort. Controls were schoolmates or friends of the patients. Parents were asked to fill a 845-item questionnaire investigating the child's environment before diagnosis. The analysis took into account the matching between cases and controls. A second analysis used propensity score methods., Results: We found a negative association of several lifestyle variables, gastroenteritis episodes, dental hygiene, hazelnut cocoa spread consumption, wasp and bee stings with T1D, consumption of vegetables from a farm and death of a pet by old age., Conclusions: The found statistical association of new environmental markers with T1D calls for replication in other cohorts and investigation of new environmental areas., Trial Registration: Clinical-Trial.gov NCT02212522 . Registered August 6, 2014.

DMRT transcription factors are deeply conserved regulators of metazoan sexual development. They share the DM DNA-binding domain, a unique intertwined double zinc-binding module followed by a C-terminal recognition helix, which binds a pseudopalindromic target DNA. Here we show that DMRT proteins use a unique binding interaction, inserting two adjacent antiparallel recognition helices into a widened DNA major groove to make base-specific contacts. Versatility in how specific base contacts are made allows human DMRT1 to use multiple DNA binding modes (tetramer, trimer and dimer). Chromatin immunoprecipitation with exonuclease treatment (ChIP-exo) indicates that multiple DNA binding modes also are used in vivo. We show that mutations affecting residues crucial for DNA recognition are associated with an intersex phenotype in flies and with male-to-female sex reversal in humans. Our results illuminate an ancient molecular interaction underlying much of metazoan sexual development.

For years, external insulin pumps have enjoyed proven efficacy as an intensive diabetes treatment to improve glycaemic control and reduce hypoglycaemia. Since the last ALFEDIAM guidelines in 1995, however, basal-bolus treatment using a combination of long- and short-acting insulin analogues have emerged and could challenge, at a lower cost, the efficacy of pumps using rapid-acting insulin analogues, considered the 'gold standard' of insulin treatment. Nevertheless, given its theoretical and practical advantages, some patients will derive more benefit from pump treatment. These cases have been carefully evaluated in the literature by a panel of experts appointed by ALFEDIAM to determine the indications for pump treatment. In patients with type 1 diabetes, persistent elevated HbA(1c) despite multiple daily injections (MDI), and repeated hypoglycaemia and high glycaemic variability, represent the most validated indications. In patients with type 2 diabetes, pump treatment may be indicated in cases of MDI failure to achieve HbA(1c) targets. Absolute contraindications are rare, and comprise severe psychiatric disorders, rapidly progressing ischaemic or proliferative retinopathy before laser treatment and exposure to high magnetic fields. Relative contraindications are mostly related to the patient's lack of compliance or inability to cope with the treatment, and need to be evaluated individually to clearly assess the benefit/risk ratio for the given patient. However, as these conditions are progressive, there should also be annual reassessment of the appropriateness of pump treatment. Specific education on pump treatment initially and throughout the follow-up, delivered by experienced medical and paramedical teams, are the best guarantees of treatment efficacy and safety., (Copyright (c) 2010 Elsevier Masson SAS. All rights reserved.)

Background and Aims: Repeated intravenous antibiotic therapy (IVAT) against chronic pulmonary infection with Pseudomonas aeruginosa is often necessary in cystic fibrosis patients (CF). The aim of this study was to monitor kinetics of degradation of pulmonary and nutritional status after IVAT in CF patients., Methods: Lung function, nutritional status and physical activity (PA) were measured for 21 CF patients (mean +/- SD age, 16 +/- 1.9 years; 9 boys) who were chronically colonized by P. aeruginosa. Each parameter was measured every 15 days during 3-6 months., Results: Nutritional status as well as PA did not change in the interval of 2 IVAT. In contrary, lung function worsened with a decrease of -14.6% of the FEV(1) (P < 0.05)., Conclusion: In CF, there is a progressive decrease in lung function without any evident deterioration of nutritional status and PA between two IVAT., ((c) 2009 Wiley-Liss, Inc.)

Context: Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth retardation, dysmorphic features, and frequent body asymmetry, spares cranial growth. Maternal uniparental disomy for chromosome 7 (mUPD7) is found in 5-10% of cases. We identified loss of methylation (LOM) of 11p15 Imprinting Center Region 1 (ICR1) domain (including IGF-II) as a mechanism leading to RSS., Objective: The aim was to screen for 11p15 epimutation and mUPD7 in RSS and non-RSS small-for-gestational-age (SGA) patients and identify epigenetic-phenotypic correlations. STUDIED POPULATION AND METHODS: A total of 127 SGA patients were analyzed. Clinical diagnosis of RSS was established when the criterion of being SGA was associated with at least three of five criteria: postnatal growth retardation, relative macrocephaly, prominent forehead, body asymmetry, and feeding difficulties. Serum IGF-II was evaluated for 82 patients., Results: Of the 127 SGA patients, 58 were diagnosed with RSS; 37 of these (63.8%) displayed partial LOM of the 11p15 ICR1 domain, and three (5.2%) had mUPD7. No molecular abnormalities were found in the non-RSS SGA group (n = 69). Birth weight, birth length, and postnatal body mass index (BMI) were lower in the abnormal 11p15 RSS group (ab-ICR1-RSS) than in the normal 11p15 RSS group [-3.4 vs.-2.6 SD score (SDS), -4.4 vs.-3.4 SDS, and -2.5 vs.-1.6 SDS, respectively; P < 0.05]. Among RSS patients, prominent forehead, relative macrocephaly, body asymmetry, and low BMI were significantly associated with ICR1 LOM. All ab-ICR1-RSS patients had at least four of five criteria of the scoring system. Postnatal IGF-II levels were within normal values., Conclusion: The 11p15 ICR1 epimutation is a major, specific cause of RSS exhibiting failure to thrive. We propose a clinical scoring system (including a BMI < -2 SDS), highly predictive of 11p15 ICR1 LOM, for the diagnosis of RSS.

Although systematic vitamin D supplementation in adolescents remains debated, rickets is nevertheless a well recognized pathology in this age group. Adolescence is an at-risk period because of rapid growth, insufficient calcium intake and/or vitamin D status. Surveys have shown that calcium intake is insufficient (< 1000 mg a day) in 45% of boys and 71% of girls and that vitamin D status is deficient (25-OH-D < 10 ng/ml). The aims of the study carried out by the Calcium Group of the Société Française de Pédiatrie, were to evaluate the frequency of rickets, and to define the criteria for the adolescent population at risk. Forty-one adolescents with rickets were hospitalized between 1985 and 2000. Most of the cases were from the Northern France: 20 from Paris and suburbs, eight from the North-West, four from the North, four from the North-East; five were from the Center of France. The mean age was 13 years and two months for the 28 girls, and 14 years and four months for the 13 boys. Eighty per cent of the adolescents were from immigrant families (33/41): 15 were from sub-Saharan Africa, ten from North Africa, six from Pakistan and two from Turkey. Two thirds of the adolescents were hospitalized in the 2nd quarter of the year. Some adolescents suffered from lower limb pain, 16 had deformations of lower limbs, particularly genu valgum, associated with pain; seven others had either muscle spasms (4), tetany (3). Serum calcium level was low (average 1.84 mmol/l: [1.1-2.5]), and serum 25-OH D level was extremely low. Radiographic characteristics observed were metaphyseal strips on the knees, with condensed edges at times, with the presence of bone demineralization. The treatment combined calcium and vitamin D, and was often administered intravenously when a hypocalcemia was detected. Rickets is not frequent in adolescents, but nonetheless this pathology is not exceptional, and the number of cases is probably under-estimated. Rickets affects immigrant adolescents in particular but nevertheless could also present a certain risk period for the general population.

Resting energy expenditure (REE) increases during pulmonary exacerbation by Pseudomonas aeruginosa in cystic fibrosis (CF) patients, and decreases after i.v. anti-Pseudomonas aeruginosa antibiotic therapy (IVAT). However, the impact of IVAT on total energy expenditure (TEE) is unknown. The aim of this study was to assess the changes in TEE and its main components after IVAT administered at home. Body composition measured by skinfold thickness and bio-impedance analysis, energy intake (EI) assessed by a weekly diary, REE measured by indirect calorimetry (IC), TEE assessed by a technique using 24-h heart-rate monitoring method and physical activity (PA) monitored using an activity diary (AD) were assessed in 16 patients (9 boys and 7 girls) aged 12.1 +/- 2.3 y (range, 7.1-14.6 y), before and after 28 +/- 4 d including a 14-d IVAT course. After IVAT, weight increased significantly by 1.9% (32.1 +/- 7.5 versus 32.7 +/- 7.6 kg; p < 0.05), while fat mass and fat free mass increased non significantly. EI increased by 4.6% (10,797 +/- 3039 versus 11320 +/- 3074 kJ/d; p < 0.05). TEE was not affected by IVAT (7014 +/- 1929 versus 7081 +/- 1478 kJ/d) whereas REE decreased by 4.1% (5295 +/- 909 versus 5093 +/- 837 kJ/d; p < 0.05), resulting in 9.3% increase in PA assessed by AD converted to metabolic equivalent tasks (MET) (37.0 +/- 3.1 versus 40.7 +/- 4.5 MET; p < 0.05). The improvement in nutritional status after IVAT is not related to a decrease in TEE, but probably to an increase in EI and a decrease of REE after IVAT. After IVAT, the reduction in REE is probably compensated by an increase in PA in CF patients.

Introduction: Exercise testing is useful in the respiratory evaluation of patients with cystic fibrosis. The shuttle walk test (SWT) is a progressive, externally paced, exercise test requiring the subject to walk/run back and forth between two fixed points. The aim is to assess the reproductibility of the SWT in paediatric patients with cystic fibrosis., Methods: This prospective study recruited 31 children with stable disease. The patients performed two SWT one day (SWT 1 and 2) and two others (SWT 3 and 4) within 15 days. Only SWT 2 and 4 were assessed for reproducibility., Results: 61% were boys, median age (range): 12.9 (7-18.9) years, median Shwachman score (range): 80 (65-100), median values for FEV1 and FVC (range): 92 (55-154) and 92 (64-140)% predicted, respectively. Median distance for SWT 2-4 (range): 910 (580-1020) and 925 (540-1020) metres. Reproducibility for SWT distance and physical activity measured by an accelerometer is very good (intra-class correlation coefficient=0.90 and 0.92, respectively). SWT distance correlated with physical activity (p=3.10(-4)) and weight (p=0.03). SWT distance was independent of the following parameters: height, weight-for-age Z-score, FEV1, FVC, Shwachman score, colonisation with Pseudomonas aeruginosa., Conclusions: The SWT is reproducible in paediatric patients with cystic fibrosis and provides assessment of respiratory performance that complements spirometric measures of lung function.

Objective: To compare once daily with thrice daily tobramycin for treatment of Pseudomonas aeruginosa infection in patients with cystic fibrosis., Design: 22 patients with cystic fibrosis, mean (SD) age 11 (3.4) years (range 5.6-19.3), with pulmonary pseudomonas exacerbations were randomly assigned to receive a 14 day course of tobramycin (15 mg/kg/day) either in three infusions (group A) (n = 10) or a single daily infusion (group B) (n = 12), combined with ceftazidime (200 mg/kg/day as three intravenous injections). Efficacy was assessed by comparison of pulmonary, nutritional, and inflammatory indices on days 1 and 14. Cochlear and renal tolerance were assessed on days 1 and 14. Tobramycin concentration was measured in serum and sputum 1, 2, 3, 4, 8, and 24 hours after the start of the infusion. Analysis was by non-parametric Wilcoxon test., Results: Variables improving (p < 0.05) in both groups A and B were, respectively: weight/height (+4% and +3.1%), plasma prealbumin (+66 and +63 mg/l), forced vital capacity (FVC) (+14% and +11%), forced expiratory volume in one second (+15% and +14%), and forced expiratory flow between 25% and 75% of FVC (+13% and +21%). Improvement was not significantly different between groups. Renal and cochlear indices remained within the normal range. Serum peak concentration of tobramycin on day 1 was 13.2 (7.1) mg/l in group A and 42.5 (11.2) mg/l in group B (p < 0.001); serum trough was 1.1 (0.8) mg/l in group A and 0.3 (0.2) mg/l in group B (p < 0.01). Tobramycin concentrations in sputum were two to three times higher in group B than group A., Conclusions: Once daily tobramycin combined with three injections of ceftazidime is safe and effective for the treatment of pseudomonas exacerbations in cystic fibrosis patients.

Background: In 1994 we started recombinant human deoxyribonuclease (rhDNase) in every cystic fibrosis (CF) patient whatever his (her) clinical condition, provided they were aged more than 5 years and forced vital capacity (FVC) was > or = 40%., Population and Methods: We reviewed retrospectively the effects of rhDNase in 69 CF children and adolescents during a 2-year follow-up. Patients (35 boys, 34 girls) received 2.5 mg of rhDNase once daily from a mean age of 8.5 years (range 5-16.4). Baseline spirometric values (% predicted) and nutritional status were as followed: FVC = 84.8 +/- 21.7; forced expiratory volume in 1 second (FEV1) = 80.8 +/- 22.2; peak flow = 89.7 +/- 34.2, forced expiratory fraction 25-75% (FEF 25-75) = 71.8 +/- 32.8; Z score weight/height = -0.41 +/- 1.14; Z score weight/age = -0.48 +/- 1.25, body mass index = 15.4 +/- 1.8; caloric intake = 107 +/- 25% of recommended dietary allowances (RDA). Patients had a Shwachman-Kulczycki's score of 87 +/- 9. Spirometric and nutritional data were analysed after 1, 3, 6, 12, 18 and 24 months of treatment and compared to baseline values (changes evaluated as percent change from mean baseline for spirometric data). Shwachman-Kulczycki's score was calculated after 24 months of rhDNase., Results: An improvement of FVC (+10.7%, P < 0.001) and FEV1 (+12%, P < 0.01) was noted after one month of treatment and was maintained throughout the following 2 years around 8.7% (6.4-11.4) for FVC and 8.2% (7.3-9.1) for FEV1, P < or = 0.01. This was particularly observed in children aged 5 to 10 years, in boys and in patients with a baseline FVC under 70% predicted. There was no significant change in FEF 25-75. We observed an improvement of daily caloric intake from the third month (P < 0.05) and of body mass index from the sixth month (P = 0.02). This was particularly noted in girls. Z score weight/age was improved only during the first 3 months of treatment while Z score weight/height increased only after a 2 year follow-up. There was no significant change in Shwachman-Kulczycki's score after 24 months of rhDNase., Conclusion: rhDNase in CF children in effective on lung function as well as on nutritional status and the response to this treatment can be evaluated after the first 3 months.

Background: Orthotopic liver transplantation (OLT) is an effective treatment for patients with cystic fibrosis end stage liver disease, especially those with only mild pulmonary involvement. Long-term follow-up in such transplanted patients is still lacking., Case Report: A 15-year-old girl with cystic fibrosis received an OLT because of severe decompensated cirrhosis. She had been colonized by Pseudomonas aeruginosa for 3 years and had pancreatic insufficiency; she also had mild glucose intolerance. Postoperatively she developed diabetes mellitus requiring insulin therapy for 9 months. Oral cyclosporin was poorly absorbed so that she was given a new emulsion of cyclosporin (Neoral) that was better absorbed. A rapid pubertal catch-up was obtained but the patient remained colonized by Pseudomonas aeruginosa., Conclusion: This 3-year postoperative follow-up confirms that OLT can represent a good alternative in those patients with severe liver disease and mild pulmonary involvement.

Unlabelled: Twenty cystic fibrosis patients aged 1.8-22 years (mean +/- SD: 9.6 +/- 4.8 years) with Pseudomonas aeruginosa pulmonary exacerbations were treated with amikacin (AM) (35 mg/kg/day in one daily 30 min infusion) associated with either ceftazidime (200 mg/kg/day in 3 i.v. injections) (n = 19) or imipenem (n = 1) at the same dose. Glomerular and tubular functions (creatinine clearance, 24-h proteinuria, beta 2 microglobulinuria, lysozymuria) and audiometry remained within normal ranges from day 0 to day 14. A peak concentration of AM of 83 +/- 19 mg/l and a trough concentration of 0.8 +/- 0.5 mg/l were observed in blood while AM levels in sputum were above the minimal inhibitory concentration 50 from 30 min to 16 h. No serum accumulation of AM was observed during the treatment. From day 0 to day 14, the following changes were observed: weight/height ratio: 96%-100% (P < 0.001); daily energy intake: 111%-128% of RDA (P < 0.001); prealbumin: 195-290 mg/l (P < 0.001); forced vital capacity (FVC): 66%-81% (P < 0.01); forced expiratory volume in 1 s: 60%-75% (P < 0.01); forced expiratory flow between 25% and 75% of FVC: 42%-56% (P < 0.01); nocturnal SaO2 also improved significantly; cardiac rate decreased from 89 +/- 18/min to 76 +/- 16/min (P < 0.001); respiratory rate decreased from 31 +/- 15/min to 26 +/- 10/min (P < 0.05); inflammatory parameters (white blood cells, polymorphonuclear cells, erythrocyte sedimentation rate) also improved., Conclusion: Once daily amikacin administration associated with ceftazidime is well tolerated for the treatment of Pseudomonas aeruginosa pulmonary exacerbations in cystic fibrosis patients. Serum peak levels and diffusion in sputum are higher than with a conventional schedule.

The authors report a new case of congenital deficiency of fibrin stabilizing factor. The defect is transmitted as an autosomal recessive trait. The earliest symptom is umbilical bleeding when the cord separates. The diagnosis is confirmed by the rapid dispersion of the clot in urea 5 M or monochloroacetic acid.

We report an investigation on the iron status of 209 hospitalized 3-month--2-year-old infants over a 6-month period. Hematological parameters and infant feeding practice were determined: a total of 105 infants (50.2%) were found to be iron-depleted, with (24.8%) or without (25.4%) anemia. The mode of lactation appeared to be the main determining factor in iron deficiency, as shown by the fact that during the first months, breast feeding and consumption of an iron-fortified milk formula were 50% less frequent and of shorter duration in infants with iron deficiency than in normal infants. Incorrect diet was also more frequent in iron-deficient infants. It is concluded that iron deficiency in infants could be prevented by better informing mothers in order to encourage breast-feeding and develop the use of an iron-fortified milk formula until the infant reaches the age of one year.

Protein energy malnutrition is a common complication in cholestatic children in a hepatic transplant program, and may be detrimental to the postoperative outcome. Improvement of the nutritional status may be of obvious importance to improve the prognosis. This study compared oral nutrition with oral nutrition supplemented with nocturnal enteral feeding in children with prolonged cholestasis. In six children with prolonged cholestasis (conjugated bilirubin over 25 mg/L and/or GGT over 110 IU/L in infants aged less than 3 months or over 50 IU/L in older infants and/or alkaline phosphatase over 500 IU/L, for more than 3 months), we compared a 4 to 6 month period with oral nutrition and similar periods with 10 to 12 h nocturnal enteral feeding given at home as an energetic supplement. Energy intake during the second period was 180-200% of recommended dietary allowances. No ascites was found in the six patients during the study period. The Z scores of body weight, weight expressed as percent of ideal body weight (IBW), weight/height2, and arm circumference/head circumference were calculated at the beginning and at the end of each period. With only oral nutrition, a diminution in percentage of ideal W/H and a diminution in Z score for the body weight were observed in five of six patients. At the end of the second period, the average of all of the nutritional indexes was increased and the Z score for the body weight was also increased in four of six patients. Significant statistical differences (p less than 0.05) were found in W as percentage of IBW and the Z score for log W/H2.(ABSTRACT TRUNCATED AT 250 WORDS)

A mother at risk for 21-hydroxylase deficiency was treated with oral dexamethasone (0.5 mg 12 hourly) from early pregnancy, in an attempt to prevent in utero virilization in case of a female fetus. Fetal karyotype was 46,XX, and because of a possible intra HLA recombination, treatment was continued to term. The newborn had a modest virilization and hormonal studies confirmed the diagnosis of congenital adrenal hyperplasia (CAH). This observation and review of the literature suggest that efficient prenatal treatment of CAH requires a higher and more frequent dosage of dexamethasone.

We report on a girl with ring chromosome 9, and review the 9 other cases of the literature. The main signs of this de novo chromosomal anomaly are: severe microcephaly, growth and psychomotor retardations, and heart malformations. Infectious complications occurs often. We found a decreased level of leucocyte interferon.

The observation of a thirteen-year-old boy who presented with motor developmental delay, muscular weakness and a waddling gait is reported. Moderately increased muscular enzyme activities and electromyographic findings suggested muscular disease. Histological and ultrastructural examinations of muscle biopsy specimens showed both hypotrophia of type 1 fibers and characteristic distribution of the nuclei within the sarcomere in a chainlike pattern in the center of the fiber surrounded by a space devoid of myofibrils. A few aspects of myophagia were found explaining why muscular enzyme activities were increased. The mother was clinically normal with slightly increased muscular enzyme activities and normal muscle biopsy specimens. The maternal grandmother had delayed gait abnormalities with normal muscular enzyme activities. Approximately one-hundred cases such as ours, isolated within a family, have been published. The course and the mode of inheritance suggest heterogeneity.

The Zollinger-Ellison syndrome with characteristic symptoms is described in an 11 year old girl. Coeliac and mesenteric arteriography showed a pancreatic gastrin-secreting tumor. After total gastrectomy the condition improved but the associated Cushing's syndrome deteriorated. Surgical removal of the tumor was not possible and the child was treated with chemotherapy (5-fluorouracil and cyclophosphamide) and OP'DDD.

The authors report the cases of two new families of true hermaphroditism (4 cases) defined by the coexistence of both testicular and ovarian tissues. Exceptionally the disease presents a familial recurrence: only 8 families have been reported in the literature. When the study is done HY antigen is always increased in patients with true hermaphroditism and sometimes slightly increased in their mothers who are phenotypically normal.

The comparative action of fixed I-dopa (500 mg orally) and bromocriptine (2,5 mg orally) doses on T.S.H. of 20 patients (8 men and 12 women) with primary hypothyroïdism was studied. T.S.H. was significantly decreased from first hour with I-dopa (p less than 0.005) and the greater decrease was reached at the second hour. T.S.H. was the thereafter progressively increased and was like basal value at the fifth or the sixth hour of the test. T.S.H. was likewise significantly decreased from first hour with bromocriptine (p less than 0,01), but the decrease was progressive during the six hours and the greater decrease was reached at the sixth hour (p less than 0,005). The decreased T.S.H. was greater for woman than for man as much with I-dopa (p less than 0,005), as with bromocriptine (p less than 0,002). The greater decrease was the same with I-dopa or bromocriptine. These results were comparatively discussed with others. They favoured an inibiting action of dopaminergic axis on T.S.H. secretion in primary hypothyroïdism.

Dosages and pharmacokinetics of dibekacin were studied in a group of 15 children with cystic fibrosis (CF) and a control group of 9 children. The mean dosage regimens of dibekacin were respectively equal to 2.19 mg/kg and 2.16 mg/kg in the CF and non-CF patients. The mean peak serum values for the CF and non-CF groups were respectively equal to 5.3 micrograms/ml. Comparison of pharmacokinetic parameters (i.e. half-life, distribution volume, total body clearance and area under the curve) showed no significant difference between the two groups (p greater than 0.05).

Systematic neonatal screening of congenital hypothyroidism (CH) allowed to detect 82 children (62 girls and 20 boys) including 73% with ectopic thyroid, 18% with athyreosis and 9% with eutopic thyroid. They were followed for 1 to 7 years according to the same protocol. Skeletal maturity was studied according to 2 methods: TW2 and Sempé's numerical. Height growth was compared to the standards for French children. T4 values were normal at all ages, TSH values were slightly higher than standard. Concerning the skeletal maturity the delay observed in boys lessened from age 6 years (TW2 method: less than 25th percentile until 3 years, = 25th from 3 to 5 years, between P25 and P50 by 7 years of age). This delay was less important in children who, at the time of diagnosis (day 15) had an epiphyseal surface greater than or equal to 5 mm2. In girls, it was always above the 25th percentile. The expression of the delay was greater with Sempé's method than with the TW2 method. Thus, early substitutive treatment of CH allows a normal height growth. The skeletal maturity is somewhat abnormal in boys. This could be explained by the high percentage (66.6%) of boys with a small epiphyseal surface during the neonatal period and by a slight under-treatment.

The authors describe a case of cystosarcoma phylloides of the breast in an 11-year-old girl. The clinical examination showed a voluminous painless tumour which had grown rapidly. Mammography revealed a dense imaging of this tumour with a 6 cm diameter. Surgical removal preserved the healthy tissues and gave a good morphological result. The histologic examination confirmed a double component phylloid tumour with a predominant mesenchymatous part.

Two cases of idiopathic hypothalamic dysfunction (one boy and one girl) are reported. Symptoms of hypothalamic dysfunction were noted by the age of 2 years: initial polyphagia and obesity with subsequent anorexia and emaciation were observed in one patient. Thermoregulation and thirst disorders, recurrent accesses of hypernatremia, acrocyanosis and profuse sweating were present. Impaired growth and delayed puberty in one case, and in the other hypogonadism, absence of growth hormone and gonadotrophins release in response to provocative stimuli were observed as well as abnormal thyroid stimulating hormone response to thyrotropin releasing hormone with hyperprolactinemia. Magnetic resonance imaging showed structural lesion in the lateral part of the lentiform nucleus in one case. Treatment with naltrexone, an opiate antagonist, had little if any effect.

Intestinal permeability to 51Cr-EDTA was studied in 20 children with cystic fibrosis (CF) and a mean age of 10.7 years, in 7 control adults and in 11 control children. 51Cr-EDTA urinary excretion (mean +/- SD) expressed as a percentage of the orally administered activity was: control children: 1.59 +/- 0.55%, control adults: 1.47 +/- 0.62%, CF patients: 10.7 +/- 8.6%. The difference between CF patients and control children on one hand, between CF patients and control adults on the other hand, was statistically significant (p less than 0.001). Only 3 CF patients had values within the limits of those observed in controls. A statistically significant correlation (p less than 0.01) was observed between the 51Cr-EDTA urinary excretion and steatorrhea. No correlation was found between 51Cr-EDTA urinary excretion and the following parameters: age, sex, weight, height, Shwachman score, liver cirrhosis, oral administration of a mucolytic agent. The eventual, especially nutritional, consequences of this increase of the intestinal permeability in the course of CF remain to be clarified.