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Maryem Ferjani,1 Yosra Zaimi,2 Nouha Trad,2 Yousra Hammi,1 Myriam Ayari,2 Shema Ayadi,2 Taha Sayari,1 Tahar Gargah1 1Department of Pediatrics, Charles Nicolle Hospital, Tunis, Tunisia; 2Department of Gastroenterology, Charles Nicolle Hospital, Tunis, TunisiaCorrespondence: Nouha Trad, Department of Gastroenterology, Charles Nicolle Hospital, Boulevard of April 9, 1938, Bab Saadoun, Tunis, 1007, Tunisia, Tel +216 50858104, Email nouha1med7@gmail.comBackground: Nephrotic syndrome (NS) is associated with a hypercoagulable state and may be complicated by thrombotic events. Venous thrombosis is well-acknowledged, while arterial thrombosis is rather unusual.Case Presentation: We present the case of a 20-year-old woman with a 12-year history of idiopathic NS revealed by extensive cerebral venous thrombosis with pulmonary embolism treated with anticoagulation therapy and oral corticosteroid therapy followed by mycophenolate mofetil (MMF). The thrombophilia assessment did not show any abnormalities. The evolution was marked by the occurrence of several NS relapses controlled by oral corticosteroid therapy until 2017. Subsequently, the patient had not presented a relapse of her disease. The anticoagulant treatment and the MMF were therefore stopped. One year later, the patient presented with severe diffuse acute abdominal pain associated with postprandial vomiting and bilateral lower limb edema. Laboratory results confirmed a NS relapse. An abdominal CT scan revealed acute thrombosis of the superior mesenteric artery with acute mesenteric ischemia. Intraoperative exploration showed mesenteric ischemia with extensive necrosis of the small intestine making their resections incompatible with life. The patient died after 48 hours.Conclusion: Mesenteric arterial thrombosis, which is a rare but life-threatening NS complication, should always be considered, especially in the case of acute non-specific digestive symptoms.Keywords: nephrotic syndrome, mesenteric ischemia, recurrence

North American bison (Bovidae: Bison bison) incur blunt impacts to the interparietal and frontal bones when they engage in head-to-head fights. To investigate the impact mitigation of these bones, a finite element analysis (FEA) of the skull under loading conditions was performed. Based on anatomical and histological studies, the interparietal and frontal bones are both comprised of a combination of haversian and plexiform bone and are both underlain by bony septa. Additionally, the interparietal bone is thicker than the frontal bone. Data regarding the mechanical properties of bison bone are scarce, but the results of a phylogenetic analysis infer that the material properties of the closely related domestic cow bone are a suitable proxy for use in the FEA. Results of the FEA suggest that the thickness of the interparietal bone in conjunction with the bony septa may prevent fracture stresses by helping to absorb and disperse the blunt impact energy throughout the skull. Monotonic stress levels of 294 MPa, which are below the compressive strength of bone were exhibited in the simulated bison head impacts indicating no fracture of the bones., Competing Interests: Competing interests The authors declare no competing or financial interests., (© 2024. Published by The Company of Biologists Ltd.)

Extended‐spectrum β‐lactamase (ESBL)‐producing Enterobacteriaceae have emerged as important nosocomial pathogens. Community infections by these organisms have been also reported and were associated with previous intestinal colonization. We aimed to characterize cefotaxime‐resistant Enterobacteriaceae (CTX‐R‐En) isolated from hospitalized children in a Tunisian paediatric ward. Seventy CTX‐R‐En isolates were collected from 227 rectal swabs from hospitalized children in a paediatric ward. Antimicrobial susceptibility testing was determined according to the EUCAST guidelines. Isolates were characterized by polymerase chain reaction (PCR, genes encoding: ESBLs, pAmpC, carbapenemases, plasmid‐mediated quinolone resistance, virulence factors in Escherichia coli and Klebsiella pneumoniae isolates, occurrence of classes 1 and 2 integrons, phylogenetic groups of E. coli isolates, ERIC‐PCR and PCR‐based replicon typing) and conjugal transfer experiments. In total, 65 out of 227 (28·6%) hospitalized children were colonized with CTX‐M‐R‐En, and 70 isolates were identified. Isolates were 59 ESBL‐, 7 plasmidic‐AmpC (pAmpC)‐, 3 ESBL+pAmpC‐, and one ESBL+carbapenemase producers. The following bla genes were identified: blaCTX‐M‐15 (n = 54), blaCTX‐M‐1 (n = 5), blaCTX‐M‐9 (n = 2), blaCTX‐M‐13 (n = 1) and blaCTX‐M‐14 (n = 1), blaCMY‐2 (n = 5), blaCMY‐4 (n = 4), blaACC‐1 (n = 1) and blaOXA‐48 (n = 1). Our results showed that hospitalized children were colonized with various CTX‐R‐En‐producing several beta‐lactamase enzymes. [ABSTRACT FROM AUTHOR]

Background: Childhood vesico-sphincteric disorders are the cause of functional and psychological disability. They are also responsible for serious uronephrologic complications akin to neuro-bladder complications. In this study, we looked for the clinical manifestations linked to these disorders as well as the paraclinical and urodynamic anomalies and their therapeutic management., Methods: We carried out a retrospective and descriptive study of patients with vesico-sphincteric disorders, followed in the pediatrics department of Charles Nicolle hospital in Tunis., Results: In total 26 patients were included in our study. The median age at the first consultation in a pediatric nephrology department was 9 years (IQR 25 = 6 years; IQR 75 = 11 years). There was a predominance of girls: 19 boys and 43 girls. The filling phase and the voiding phase were dominated by the combination of three or more symptoms. Bladder tenderness was reduced in 12% of cases. Nineteen percent of patients reported post micturition dribble in the post-voiding phase. The flow rate curve was polyphasic in 36% of cases and flat in 11% of cases. The median of the post void residual was 62, 2 mL (IQR 25 = 25 mL; IQR 75 = 102 mL). Cystometry showed reduced bladder sensation in 14% of cases, detrusor overactivity in 65% of cases, bladder hypocontractility in 8% of cases, hypocompliant bladder in 42% of cases and small capacity in 88% of cases. Sphincter dysynergia was noted in 34% of patients. Anticholinergics were the most used in the treatment of disorders (53%). Renal failure was noted in 45% of the patients of which 11% had end-renal stage failure. During follow-up 16% of our patients required kidney replacement therapy., Conclusion: Given the seriousness of vesico-sphincteric disorders in children and the late discovery in the majority of cases at the complication stage, targeted primary prevention must be carried out based on continuous training of primary care physicians to minimize the appearance of complications involving the functional and vital prognosis of these children.

Introduction: Nephronophthisis (NPHP) is a tubulointerstitial kidney disorder with an autosomal recessive inheritance pattern. Its genetic heterogeneity contributes to phenotype variability. The most frequent etiology of juvenile nephronophthisis is a mutation in the nephronophthisis type 1 ( NPHP1 ) gene. This study aimed to evaluate the genotype-phenotype correlation in NPHP1 gene mutation., Methods: A multicenter retrospective study was performed over 20 years from 1998 to 2018 to describe the clinical, biological, and radiological features associated with the large deletion NPHP1 gene in 32 patients., Results: The incidence of NPHP1 was 1.6/204041. Eighty-one percent of our patients were born out of consanguineous marriages. The mean age at diagnosis was 14 ± 7 years. The patients were divided into three groups: isolated nephronophthisis (72%), syndromic nephronophthisis (19%), and patients without recognizable syndrome (9%). Intrafamilial and geographical variability was observed in syndrome diagnoses and in age at the onset of CKD stage 5. Genotype frequency varied between 50% and 100% in genealogical data. Juvenile (47%), adolescent (37%), and adult (13%) clinical forms have been distinguished by the onset of CKD stage 5. The five-year survival rate of renal transplantation was 80%., Conclusion: Given the broad clinical spectrum of NPHP1 associated with the large deletion of the NPHP1 gene, no genotype-phenotype correlation could be established., Competing Interests: There are no conflicts of interest., (Copyright: © 2023 Indian Journal of Nephrology.)

Introduction: Distal renal tubular acidosis (dRTA) is a rare genetic disorder due to the incapacity of the α intercalated cells to excrete protons in the collecting duct. This impaired distal acidification of urine leads to a chronic hyperchloremic metabolic acidosis with a normal plasma anion gap, hypokalemia, and hypercalciuria with hypocitraturia causing nephrocalcinosis. Primary dRTA is inherited either as an autosomal dominant (SLC1A4 gene) or autosomal recessive trait (ATP6V0A1/ATP6V1B1 genes)., Aim: To analyze the genotype-phenotype correlation of dTA in Tunisia., Methods: In this study we present all available data of patients followed in our center for dRTA over the last 28 years and who had a genetic study. This was a retrospective descriptive study from January 1991 to December 2018, conducted in the Pediatrics Department of the Charles Nicolle Hospital in Tunis., Results: Twenty-five cases of dRTA were collected and were offered genetic analysis to confirm the diagnosis. The molecular mutation was confirmed in 13 patients of whom 11 had homozygous mutations in ATP6V1B1(G1) and 2 had homozygous mutations in ATP6V0A4(G2). Median age of diagnosis was 8.9 months. Severe growth retardation was documented in nine children with mutations in ATP6V1B1, in eight children with no genetic mutation and in the two patients with a mutation in ATP6V0A4. All children were found to have metabolic acidosis at initial presentation. Hypokalemia was found in 19 children. All patients were polyuric. Twenty-two patients had nephrocalcinosis (88%). The treatment was based on alkali prescription and substitution of potassium chloride. Sensorineural hearing loss (SNHL) was documented in 12 children. At the last consultation, 14 patients had chronic kidney disease (CKD) stage 2 or higher, 8 of whom were in the group with negative genetic analysis., Conclusion: According to the early onset in patients, the recessive mode seems to be the mode of transmission in Tunisia. dRTA was long considered to not affect renal function, but we note a decline in eDFG.

Background: Nephropathic cystinosis is an autosomal recessive disease caused by a mutation in the CTNS gene which encodes cystinosin, a lysosomal cystine transporter. The spectrum of mutations in the CTNS gene is not well defined in the North African population. Here, we investigated twelve patients with nephropathic cystinosis belonging to eight Tunisian families in order to analyze the clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis., Methods: Clinical data were collected retrospectively. Molecular analysis of the CTNS gene was performed by Sanger sequencing., Results: We describe a new splicing mutation c.971-1G > C in the homozygous state in 6/12 patients which seems to be a founder mutation. The reported deletion of 23nt c.771_793 Del (p.Gly258Serfs*30) was detected in a homozygous state in one patient and in a heterozygous compound state with the c.971-1G > C mutation in 3/12 patients. Two of 12 patients have a deletion of exons 4 and 5 of the CTNS gene. None of our patients had the most common 57-kb deletion., Conclusions: The mutational spectrum in the Tunisian population is different from previously described populations. Thus, a molecular diagnostic strategy must be implemented in Tunisia, by targeting as a priority the common mutations described in this country. Such a strategy will allow a cost-effective diagnosis confirmation as well as early administration of treatment with oral cysteamine. A higher resolution version of the Graphical abstract is available as Supplementary information., (© 2022. The Author(s), under exclusive licence to International Pediatric Nephrology Association.)

Extended-spectrum β-lactamase (ESBL)-producing Enterobacteriaceae have emerged as important nosocomial pathogens. Community infections by these organisms have been also reported and were associated with previous intestinal colonization. We aimed to characterize cefotaxime-resistant Enterobacteriaceae (CTX-R-En) isolated from hospitalized children in a Tunisian paediatric ward. Seventy CTX-R-En isolates were collected from 227 rectal swabs from hospitalized children in a paediatric ward. Antimicrobial susceptibility testing was determined according to the EUCAST guidelines. Isolates were characterized by polymerase chain reaction (PCR, genes encoding: ESBLs, pAmpC, carbapenemases, plasmid-mediated quinolone resistance, virulence factors in Escherichia coli and Klebsiella pneumoniae isolates, occurrence of classes 1 and 2 integrons, phylogenetic groups of E. coli isolates, ERIC-PCR and PCR-based replicon typing) and conjugal transfer experiments. In total, 65 out of 227 (28·6%) hospitalized children were colonized with CTX-M-R-En, and 70 isolates were identified. Isolates were 59 ESBL-, 7 plasmidic-AmpC (pAmpC)-, 3 ESBL+pAmpC-, and one ESBL+carbapenemase producers. The following bla genes were identified: bla CTX-M-15 (n = 54), bla CTX-M-1 (n = 5), bla CTX-M-9 (n = 2), bla CTX-M-13 (n = 1) and bla CTX-M-14 (n = 1), bla CMY-2 (n = 5), bla CMY-4 (n = 4), bla ACC-1 (n = 1) and bla OXA-48 (n = 1). Our results showed that hospitalized children were colonized with various CTX-R-En-producing several beta-lactamase enzymes., (© 2022 The Society for Applied Microbiology.)

Introduction: The distal renal tubular acidosis of children is characterized by hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria and nephrocalcinosis. It is secondary to the inability of alpha intercalar cells of the distal tubule to acidify urine of genetic origin., Objective: To analyse the epidemiological aspects of distal tubular acidosis in Tunisia and study its evolutionary profile., Patients and Methods: We conducted a retrospective descriptive study involving 44 patients followed at the paediatrics department of the Charles Nicolle Hospital in Tunis for 28 years (1991-2018)., Results: The most common discovery circumstances were growth retardation (88.6%), dehydration (56.8%), ployuro-polydipsic syndrome (47.7%), vomiting (40.9%) and nephrocalcinosis (38.6%). Growth retardation was found in 52.3% of patients. Dehydration was diagnosed in 59.1% of patients on the first exam. Polyuria was constant with an average diuresis of 8 cc/kg/h. All patients had the complete form of distal renal tubular acidosis with an average alkaline reserve of 11.1 mmol/L. Nephocalcinosis was found in 77.3% associated with nepholithiasis in 22.7%. Twenty-four patients had sensorineural deafness, nine of whom had ATP6V1B1/2p13 mutation. The ATP6V0A4/7q33-34 mutation was present in two patients. We used a high alkaline treatment dose with an average maintenance dose of 8.17 mmol/kg/24 hours. In the long term, stunting persisted in 34% of patients. The mean of creatinine's clearance at the last evaluation was 89.38 mL/min/1.73 m 2 SC with stage 2 of chronic kidney disease in 50% of patients., Conclusion: Distal renal tubular acidosis has long been considered a benign pathology but is responsible for a progressive decline in GFD. Adequate metabolic control is needed to stabilize kidney function., (Copyright © 2022 Société francophone de néphrologie, dialyse et transplantation. Published by Elsevier Masson SAS. All rights reserved.)

A thermodynamically-consistent large strain viscoelasticity-viscoplasticity-damage Internal State Variable (ISV) constitutive material model integrated with a mixture theory combining each individual constituent is formulated to describe the highly nonlinear, rate-dependent thermomechanical behavior of Fiber Reinforced Polymer (FRP) composites. The model is formulated in an intermediate configuration where unloading the specimen is viscoelastic. In our model, a rate-dependent yield surface is employed to identify initial yielding of the material. At small deformations, which occurs before yielding, the viscoelastic behavior of FRPs is described using the generalized Maxwell model, while at large deformation, three physically based evolving ISVs are used to capture the hardening and softening behaviors caused by their polymeric constituents. The complicated damage state of the FRPs is captured by a second rank tensor, which is further decomposed to model the subscale damage phenomena of microvoids/cracks nucleation, growth and coalescence. Finally, the mixture theory in combination with certain homogenization procedures are adopted to formulate the overall stress, strain, and damage of the composite in terms of the individual constituents. To demonstrate the model's usage, two examples are presented. First, the ISV model is calibrated to a Polyamide 6,6 reinforced with glass fibers with the aim of showing its capacity to predict the viscoelastic and damage coupled behaviors of a composite. Second, a glass fiber reinforced epoxy with the purpose of describing the temperature dependence and the interphase effect is illustrated. [ABSTRACT FROM AUTHOR]

Background: Bladder dysfunction may be associated with valves of the posterior urethra. Their evaluation by urodynamic assessment is an important parameter for the therapeutic management. The objective of our study was to study the contribution of urodynamic assessment in the management of valves of the posterior urethra of the child., Methods: Our study was descriptive, retrospective, involving 43 children with posterior urethral valves (PUV), followed at the pediatric ward at Charles Nicolle Hospital in Tunis from January 1995 to December 2015. All the children had an urodynamic assessment after valves of the posterior urethra treatment., Results: The mean age was 15.8 months. Preoperatively, creatinine clearance was below 60 ml / min in 32 patients (74%). The worsening of renal function was noted in 32 (74%). A significant post-voiding residue proved in 34 patients (79%). Cystometry revealed a hypo compliant bladder in 24 (56%), low bladder capacity in 42% of cases; a hypertonic detrusor in 37% of cases. Bladder sphincter dyssynergia was diagnosed in 6 patients. Like urodynamic assessment data, bladder enlargement associated with a Mitrofanoff-type shunt was indicated and performed in 3 patients (7%)., Conclusion: Through our study, the urodynamic profile made it possible to specify the type of vesico-sphincter dysfunctions persistent in patients operated for PUV, and subsequently to adapt the therapeutic conduct in these patients. Given the lack of management and the consequences on the health of the child as well as on his quality of life, reflections on the preventive and therapeutic approach after PUV treatment are necessary.

Introduction: Learning clinical teaching is an alternative to traditional forms of teaching. Its objective is to lead the student to acquire a relevant diagnostic approach by developing a clinical reasoning., Aim: To evaluate these sessions in Pediatrics, with students in the second cycle of medical study., Methods: A session on the topic of "stunting" was scheduled as a CRL with second cycle of medical studies 2 (SCMS2) students during their Pediatrics internship, with a pre and post-test administered and a self-administered questionnaire., Results: Two groups of students that included twenty-three students participated in the session. Pre-test scores ranged from 0/10 to 6.8 / 10 and post-test scores from 6.5 / 10 to 9/10. The average pre- and post-test scores, were respectively 4.26 ± 1.37/10 and 7.35 ± 0.7 / 10 (P <0.001). Twenty-two students reported their overall satisfaction with teaching. The overall rating score was 4.39 ± 0.49/ five points. The average of the ratings for new knowledge delivery, achievement of educational objectives, interaction and participation were greater than 4.3 / 5., Conclusion: This form of small group learning seems to have legitimacy in Pediatric education.