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Objectives Early diagnosis in Turner syndrome is desirable to optimize growth and puberty and yet, it is often made late. Here, we aim to identify age at diagnosis, clinical features at presentation and potential strategies to improve the care of TS girls. Methods Retrospective study, including patients from 14 care centers across Tunisia including neonatal and pediatric care units, adult endocrinology and genetics departments. Results We identified 175 patients with TS, karyotype showing 45, xmonosomy in 83(47.4 %) with mosaicism in 37(20 %). Mean ± SD, median (range) age at diagnosis available in 173 patients was 13 ± 9.2,12 (birth-48) years. The diagnosis was antenatal in 4(2.3 %), from birth-2 years in 14 (8 %)with lymphoedema (8)and dysmorphic features (9),2–12 years in 53 (35.5 %) including 35 with short stature, 13–18 years in 43(28.8 %) with short stature(28) and delayed puberty(14) and 35(23.5 %) after 18 years, related to ovarian insufficiency (20) and short stature (11). The associated malformations were cardiac in 14 (12.8 %), renal in 22 (19.6 %). A total of 56 girls (32 %) had proven gonadal dysgenesis and 13 (7 %) had otological problems. Parental height was available in 71 girls (40 %) of whom 59 were below the lower end of parental target range (LTR) (83 %). Conclusions This first Tunisian multicenter study, the first African of its kind, reveals that more than half of Turner syndrome cases are diagnosed after the age of 12 years. Subsequently, national strategies for an earlier TS diagnosis are needed such as measuring and plotting parental heights as well as introducing a systematic height screening at 5 years in Tunisia with a view to carrying out a re-audit in five years’ time.

The preterm birth represents a stressful situation that can lead to questions about the survival of the child and the possible consequences.To examine the interactions between mothers and premature babies in the neonatal care unit (NCU) and assess the psychological state of the mothers.Cross-sectional study conducted from March to May 2017 in the Department of Pediatrics and Neonatology of the Mongi Slim Hospital (Tunis, Tunisia). Ten mothers of premature babies hospitalized in NCU were involved and responded to the Postpartum Bonding Questionnaire (PBQ), the Edinburgh Postnatal Depression Scale (EPDS) (cut off≥10) and the Hospital Anxiety and Depression Scale (HADS).The mean age of the mothers was 31 years. A personal history of depression was found in two mothers. The current pregnancy was not desired in three cases, two corresponded to mothers with a history of depression. According to interactions, the median PBQ score was 11. The EPDS median score was six; four mothers had a score greater than 10. A high level on the anxiety sub-scale of the HADS was found in the two mothers who had a personal psychiatric history. The more depressed or anxious the mothers were, the higher the interaction scores (p = 0.012 and p = 0.032, respectively).Preterm birth seems to affect the psychological state of mothers and their interactions with their baby.

Urinary tract infection (UTI) is the most common bacterial infection in febrile newborns. The exact prevalence is difficult to determine.To determine if renal ultrasound is sufficient in newborns diagnosed with urinary tract infection (UTI) or if they require a routine voiding cystourethrogram.Retrospective data analysis for infants admitted in the neonatal department in Mongi Slim Hospital in Tunis between January 2007 and December 2016 and diagnosed with UTI in the first month of life.75 newborns were diagnosed with the first episode of UTI during their hospitalization. The median age was 15 days; there were 52 (70%) males. Fetal ultrasound data were available for 70 patients (90%), of whom 14 (20%) had abnormal findings. E.coli was the most common causative pathogen founding 62 patients (83%). Renal ultrasound was performed in all patients, of which 20 (27%) were reported as abnormal. VCUG results were available for 32 infants (43%), of which 11 (34%) were interpreted as abnormal; Eight of them (73%) demonstrated vesicoureteric reflux (VUR).Comparison of the patients with and without malformative uropathy in our study, concluded that there was no significant difference in age, gender, urine culture specimen and positivity of blood culture. However antenatal ultrasound abnormalities were predictive of vesicoureteric reflux and other renal abnormalities (p = 0.001). The sensitivity of renal ultrasound for detection of vesicoureteric reflux and other renal or ureteral abnormalities was 81.8 %, specificity was 81 %. The positive predictive value (VPP) was 69.2 % and the negative predictive value was 89.5 %.In infants presenting with UTI in the first month of life, conservative follow-up with renal ultrasound examination and early detection of recurrent UTI are sufficient.

Background and Aims An expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment. Methods A total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22]. Patients were divided at inclusion into three phenotypic subsets: predominantly small bowel inflammation, colitis with perianal lesions, and colitis only. Methods to obtain molecular diagnosis included functional tests followed by specific Sanger sequencing, custom-made targeted NGS, and in selected cases whole exome sequencing [WES] of parents-child trios. Genetic findings were validated clinically and/or functionally. Results Molecular diagnosis was achieved in 66/207 children [32%]: 61% with small bowel inflammation, 39% with colitis and perianal lesions, and 18% with colitis only. Targeted NGS pinpointed gene mutations causative of atypical presentations, and identified large exonic copy number variations previously missed by WES. Conclusions Our results lead us to propose an optimised diagnostic strategy to identify known monogenic causes of severe IBD.

Hemolytic uremic syndrome, one of the common causes of acute renal failure in children, is characterized by the triad of microangiopathy, haemolytic anemia, thrombocytopenia and acute renal failure. The diarrhoea-associated Hemolytic uremic syndrome is usually termed as a typical Hemolytic uremic syndrome. Streptococcus pneumoniae is an uncommon etiological pathogen for inducing Hemolytic uremic syndrome, and Streptococcus pneumoniae associated Hemolytic uremic syndrome is also termed as atypical hemolytic uremic syndrome.to report two pediatric cases of invasive S pneumoniae complicated with hemolytic uremic syndrome HUS.The first patient presented with pneumococcal pneumonia and empyema and the second patient presented with pneumococcal pneumonia and meningitis. The two patients were under one year of age and required peritoneal dialysis with improvement of renal function in one; the other died.Pneumococcal invasive disease may be a cause of severe HUS, so a high index of suspicion is mandatory to prompt appropriate diagnosis and management.

The purpose of this retrospective study is to clarify the clinical, radiological and evolutionary aspects of the hydatid cyst of the lung. Over a period of 9 years (January, 1983 - December, 2001), we brought together in the pediatric service B of Children's hospital of Tunis, 54 cases of hydatid cyst of the lung. The average age is of 7 years 3 months (extremes 2 and 14 years), and the sex- ratio of 1,16. 61% of the children are of rural origin. Bronchpulmonary infection is the most frequent circumstance of discovery (72 % of cases). hemoptysis is revealing in 37% of cases. Discovery is fortuitous in 7% of cases. The radiography of the chest is of a big diagnostic contribution. The radiological aspects obtained are: a homogeneous opaqueness (61%), a diverse opaqueness (26%), an image of lung abscess (22 %), an aspect of floating membrane (4 %), a pleural effusion (9%), and an opaqueness with growing gas (4%). Chest echography was contributory in 77% of cases. 74% of the children were operated without complications. The others were lost.