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Abstract: Renal tubular dysgenesis is a severe and rare disorder of the renal development characterized by fetal anuria, oligohydramnios and early death from pulmonary hypoplasia and refractory arterial hypotension. We report on a female patient who presented with anuria in the neonatal period, requiring peritoneal dialysis until 5 months of age with unexpected diuresis recovery at 2 months of age. Clinical, histological and pathophysiological issues are discussed for this disease related to a mutation in the renin gene. [Copyright &y& Elsevier]

Abstract: Objectives: The purpose of this study is to describe the diagnosis, the care and the prognosis of the fetuses with an antenataly diagnosed megacystis. Patients and methods: Six year retrospective study about 46 cases of megacystis (26 diagnosed during 1st trimester; 14 during 2nd trimester; 9 during 3rd trimester) referred in the prenatal fetal medicine unit of the Femme–Mère-Enfant hospital in Lyon (France). Results: The main aetiology is urethral occlusion, particularly for megacystis discovered during the 1st and the 2nd trimesters. Twenty-two terminations of pregnancy were performed (47.8%) and 6 pregnancies arrested spontaneously (13%). Eighteen children were born alive, but 2 died in neonatal period. Finally, 16 children survived (34.8%). Chromosomal abnormalities are frequent (22%). Discussion and conclusion: Antenatal discovery of a megacystis is a complex situation, and often of poor fetal prognosis. It requires a multidisciplinary approach to allow the concerned couple to be determined on the best care of this pregnancy. [ABSTRACT FROM AUTHOR]

Summary: Crohn disease (CD) is a chronic bowel disorder that may affect many other organs such as the eyes, hepatobiliary system, skin, and joints. Pulmonary involvement in association with CD is a classic but uncommon manifestation. It can be primitive with granulomas or secondary to treatments. We report on the case of a teenager in whom the onset of CD was dominated by respiratory symptoms. Because of this presentation, we also suspected opportunistic infections such as tuberculosis and other granulomatous pulmonary diseases such as sarcoidosis or hypersensitivity pneumonitis. [ABSTRACT FROM AUTHOR]

Abstract: Wiedemann–Beckwith syndrome (WBS) is a syndrome of excessive growing with a high predisposition to developing embryologic tumours within the first years of life. This risk is evaluated between 7.5 and 10%; it varies with the mechanisms of mutations involved. These take place in two distinct domains of 11p15, which are under parental printing. Emerging techniques of cytogenetic and molecular biology now have shown correlations between genotypes and phenotypes, and can identify the 30% of WBS who are especially at risk of developing tumours. A specific follow-up, integrating the specificity of developing tumours of each 11p15 mutations involved, is now proposed to patients with WBS. [Copyright &y& Elsevier]

Quantitative data on metaphyseal bone histology during early human development are scarce. In the present study the proximal femoral metaphysis of 35 fetuses and newborns (gestational age 16–35 weeks) was analyzed by histomorphometry. Averaged over the entire metaphyseal area, the relative amount of bone and cartilage was higher in the third compared to the second trimester. Osteoid thickness increased with gestational age, whereas indices of bone resorption decreased. The relative amount of cartilage decreased with increasing distance from the growth plate, whereas the relative amount of bone increased. This was due to trabecular thickening, which occurred at an estimated rate of 3 μm/day in areas close to the growth plate. Despite this rapid rate of net bone gain, osteoid indices were relatively low, indicating that mineralization occurred very rapidly after bone deposition. These observations suggest that modeling, not remodeling, is the predominant mechanism responsible for the development of femoral metaphyseal cancellous bone in utero. [ABSTRACT FROM AUTHOR]

Abstract: MURCS association includes Mullerrian duct aplasia–hypoplasia (MU), renal malformations (R) and cervicothoracic somite dysplasia (CS). This rare disease (1/50 000 females) is sporadic and of unknown aetiology. The reported case is the first one with additional esophageal atresia and ovarian mature teratoma. Esophageal atresia first led to the diagnosis of VACTERL association, which is more frequent and well known, showing that the identification of such malformative association may be challenging. The presence of mullerrian abnormality has allowed the diagnosis of MURCS association, as there is no mullerrian hypoplasia in VACTERL association. Therefore the association of isolated or combined renal and cervical malformation with VACTERL features should lead to the search for mullerrian abnormalities. [Copyright &y& Elsevier]

Acute cholecystitis revealing polyarteritis nodosa is classic but rare in adulthood. We report two cases observed during childhood.Case reports – The association of a persistent inflammatory syndrome, positive antineutrophil cytoplasm antibodies and of a vasculitis with fibrinoi¨d necrosis led to the diagnosis in two pediatric patients.Conclusion – The diagnosis of polyarteritis nodosa is difficult and often delayed. Cholecystectomy can help to such a diagnosis in the presence of acute cholecystitis. [Copyright &y& Elsevier]

Introduction/Background The decrease of the autonomic nervous system (ANS) activity that occurs with age is associated with an increase of cardiovascular events and morbidities. It has been shown that physical activity helps reducing the ANS activity age-related decline but remains poorly practiced among nursing home residents. Therefore, we aim to compare the effects of a 9-month brisk walking training (1 time a week or 3 times a week) on the ANS activity in frail nursing home residents. Material and method One hundred 60-year-old subjects and older will be recruited within the ten nursing homes of La mutualité française Loire Haute-Loire, France (ClinicalTrials.gov identifier: NCT03302923 ) and will be randomized into 3 groups: G1: one brisk walking session a week; G2: three brisk walking session a week; G3: Control group (no training). Testing procedure will occur at the inclusion and after 3 months, 6 months and 9 months of training. The primary outcome is the heart rate variability measured by 24 hours Holter ECG, especially global and parasympathetic indices such as SDNN and RMSSD respectively. The maximal distance performed during the 6-minute walk test is also used as a secondary outcome measure. Results Twenty-three subjects aged 80.1 ± 10.7 years currently accomplished the whole training protocol. Compared with control group, subjects trained 3 times a week experienced an increase of parasympathetic activity (RMSSD value) by 58.3% ( P < 0.01) while global (SDNN) activity did not differ significantly. Subjects from the latter group also improved their 6 min walking distance by 12.0% ( P < 0.01). Conclusion A nine-month brisk walking training enhances parasympathetic activity and improves walking distance in frail institutionalized old people. In that view physical activity may prevent cardiovascular risks and might help to reduce the loss of autonomy even after 80. [ABSTRACT FROM AUTHOR]