Search

Introduction: Congenital heart disease is a heterogeneous group of malformations and one of the most common causes of mortality in children., Aim: The aim of this study was to investigate the clinical, genetic and evolutive characteristics of congenital heart disease., Methods: A retrospective, descriptive study was carried out between 2020 and 2023 at the pediatrics and neonatology department of Mongi Slim university hospital of Tunis. All children with confirmed congenital heart disease were included., Results: Forty-five patients were included, representing 5.7‰ of all admissions. The sex ratio was 1.4. A prenatal diagnosis of congenital heart disease was established in 9% of cases. The median age at the time of discovery was 18 days. The initial symptomatology was respiratory distress in 64% of cases. The main reasons for performing a cardiac ultrasound were heart murmur in 38% followed by polymalformative assessment in 27% of cases. Most of the cardiopathies were atrial septal defects (42%) and ventricular septal defects (40%). Cyanotic heart diseases represented 29% of cases, conotruncal ones 13% and ductodependent ones 16%. Congenital heart disease was associated with a genetic anomaly in 53% of patients, including 15 cases of trisomy 21 and four Di-George syndromes. The treatment was mainly medical (38%), associated with surgery in 5 cases. Death occurred in nine patients, representing a mortality rate of 20%., Conclusion: Efforts still need to be made to improve pre- and post-natal diagnosis and ensure rapid treatment in order to reduce morbidity and mortality in our country.

Background: Music therapy (MT) is a non-pharmacological treatment increasingly used to reduce stress and anxiety in hospitalized children affected by cancers. The aim of this study was to evaluate the impact of MT on quality of life in children with cancer and determine its effect on cardiorespiratory rates., Methods: We conducted a quasi-experimental study between 1 April and 31 August 2021 at Bechir Hamza children's Hospital in Tunis, including children treated for cancer. The child or parent completed the PedsQL Module Cancer French version 3.0 questionnaires before and after four weekly music therapy sessions. The child's respiratory and heart rates were measured before and after each session., Results: We included 20 children whose mean age was 7 ± 4.5 years. The median value of the total questionnaire score increased from 57 [46; 70] to 72 [67; 85] ( p < 10 -3 ) noting a significant reduction in pain ( p = 0.02), nausea ( p = 0.009), and anxiety related to medical procedures ( p = 0.009) and worry about the future ( p = 0.005). We highlighted a significant decrease in respiratory and heart rate after MT ( p < 0.05)., Conclusions: MT has positive impact on quality of life in children with cancer and reduces stress by lowering their cardiorespiratory rates.

Cassava Brown Streak Disease (CBSD), which is caused by cassava brown streak virus (CBSV) and Ugandan cassava brown streak virus (UCBSV), represents one of the most devastating threats to cassava production in Africa, including in Rwanda where a dramatic epidemic in 2014 dropped cassava yield from 3.3 million to 900,000 tonnes (1). Studying viral genetic diversity at the genome level is essential in disease management, as it can provide valuable information on the origin and dynamics of epidemic events. To fill the current lack of genome-based diversity studies of UCBSV, we performed a nationwide survey of cassava ipomovirus genomic sequences in Rwanda by high-throughput sequencing (HTS) of pools of plants sampled from 130 cassava fields in thirteen cassava-producing districts, spanning seven agro-ecological zones with contrasting climatic conditions and different cassava cultivars. HTS allowed the assembly of a nearly complete consensus genome of UCBSV in twelve districts. The phylogenetic analysis revealed high homology between UCBSV genome sequences, with a maximum of 0.8 per cent divergence between genomes at the nucleotide level. An in-depth investigation based on Single Nucleotide Polymorphisms (SNPs) was conducted to explore the genome diversity beyond the consensus sequences. First, to ensure the validity of the result, a panel of SNPs was confirmed by independent reverse transcription polymerase chain reaction (RT-PCR) and Sanger sequencing. Furthermore, the combination of fixation index ( F ST ) calculation and Principal Component Analysis (PCA) based on SNP patterns identified three different UCBSV haplotypes geographically clustered. The haplotype 2 (H 2 ) was restricted to the central regions, where the NAROCAS 1 cultivar is predominantly farmed. RT-PCR and Sanger sequencing of individual NAROCAS1 plants confirmed their association with H 2 . Haplotype 1 was widely spread, with a 100 per cent occurrence in the Eastern region, while Haplotype 3 was only found in the Western region. These haplotypes' associations with specific cultivars or regions would need further confirmation. Our results prove that a much more complex picture of genetic diversity can be deciphered beyond the consensus sequences, with practical implications on virus epidemiology, evolution, and disease management. Our methodology proposes a high-resolution analysis of genome diversity beyond the consensus between and within samples. It can be used at various scales, from individual plants to pooled samples of virus-infected plants. Our findings also showed how subtle genetic differences could be informative on the potential impact of agricultural practices, as the presence and frequency of a virus haplotype could be correlated with the dissemination and adoption of improved cultivars., Competing Interests: The authors declare no conflict of interest., (© The Author(s) 2023. Published by Oxford University Press.)

The advances in high-throughput sequencing (HTS) technologies and bioinformatic tools have provided new opportunities for virus and viroid discovery and diagnostics. Hence, new sequences of viral origin are being discovered and published at a previously unseen rate. Therefore, a collective effort was undertaken to write and propose a framework for prioritizing the biological characterization steps needed after discovering a new plant virus to evaluate its impact at different levels. Even though the proposed approach was widely used, a revision of these guidelines was prepared to consider virus discovery and characterization trends and integrate novel approaches and tools recently published or under development. This updated framework is more adapted to the current rate of virus discovery and provides an improved prioritization for filling knowledge and data gaps. It consists of four distinct steps adapted to include a multi-stakeholder feedback loop. Key improvements include better prioritization and organization of the various steps, earlier data sharing among researchers and involved stakeholders, public database screening, and exploitation of genomic information to predict biological properties., Competing Interests: AF was employed by Fera Science Ltd. AyM and YH were employed by Abiopep S.L. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Fontdevila, Khalili, Maachi, Rivarez, Rollin, Salavert, Temple, Aranda, Boonham, Botermans, Candresse, Fox, Hernando, Kutnjak, Marais, Petter, Ravnikar, Selmi, Tahzima, Trontin, Wetzel and Massart.)

Progressive familial intrahepatic is a heterogeneous group of rare autosomal recessive liver disorders. Neonatal onset is characteristic of the PFIC 1 and PFIC 2, which result from mutations in genes respectivelyATP8B1 and ABCB11. Four Tunisian patients, three of them with PFIC 2 and one with PFIC1, were described. They all had typical clinical and biological features. However, they all had newly reported mutations. The same mutation was found in the patients with PFIC2, which could facilitate the diagnosis in Tunisian patients suspected in the future. The patient diagnosed with PFIC1 had also a newly described mutation, with a probable phenotypic particularity that is congenital hypothyroidism. Advances are being made to establish a molecular diagnosis in neonatal onset cholestasis. Indeed, next generation sequencing gene panels (NGSGP) potentially decrease the need for invasive procedures in these patients, enable early initiation of treatment and adequate genetic counseling.

Background: The preterm birth represents a stressful situation that can lead to questions about the survival of the child and the possible consequences., Aim: To examine the interactions between mothers and premature babies in the neonatal care unit (NCU) and assess the psychological state of the mothers., Methods: 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)., Results: 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)., Conclusion: Preterm birth seems to affect the psychological state of mothers and their interactions with their baby.

Introduction: Urinary tract infection (UTI) is the most common bacterial infection in febrile newborns. The exact prevalence is difficult to determine., Aim: To determine if renal ultrasound is sufficient in newborns diagnosed with urinary tract infection (UTI) or if they require a routine voiding cystourethrogram., Methods: 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., Results: 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 %., Conclusion: 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.

Seeds of snail medic (Medicago scutellata L.) were assessed for their response to salt at the germination and seedling stages. NaCl at concentrations 86 and 170 mM decreased the final germination percentage. Embryonic axis length, water content and dry weight of embryonic axis and cotyledons were also reduced by salt treatment. Furthermore, 28-d-old plants were grown hydroponically with different NaCl concentrations (0, 86 and 170 mM). After 7 days of treatment, growth, water content and development of the different organs of M. scutellata plant were affected especially at the highest NaCl concentration (170 mM). However, NaCl did not affect root length and the number of stem shoots but reduced stem length and total leaf area. Salt treatment increased markedly the concentration of Na + in leaf and root tissues while reduced that of K + only in root and stem tissues. Lipid peroxidation revealed the damage of the membranes of roots and leaves. Moreover, showed a more intense suberization and lignification at the cambial zone of roots of M. scutellata, were observed under the effect of NaCl.

Prospecting of local grapevine ( Vitis vinifera L.) germplasm revealed that Tunisia possesses a rich patrimony which presents diversified organoleptic characteristics. However, viral diseases seriously affect all local grapevine cultivars which risk a complete extinction. Sanitation programs need to be established to preserve and exploit, as a gene pool, the Tunisian vineyards areas. The presence of the Grapevine leafroll associated virus-3 (GLRaV-3), Grapevine stem pitting associated virus (GRSPaV) and Grapevine virus A (GVA), were confirmed in a Tunisian grapevine cultivar using serological and molecular analyses. The association between GRSPaV and GVA viruses induces more rugose wood symptoms and damages. For this reason the cleansing of the infected cultivar is highly advisable. Direct and recurrent somatic embryos of cv. 'Hencha' were successfully induced from filament, when cultured on Chée and Pool (1987). based-medium, enriched with 2 mg 1 -1 of 2,4-dichlorophenoxyacetic acid and 2.5 mg 1 -1 of Thidiazuron, after 36 weeks of culture. After six months of acclimatization, RT-PCR carried on 50 somaplants confirmed the absence of GVA, GRSPa-V as well as GLRaV-3 viruses in all somaplants. Ampelographic analysis, based on eight OIV descriptors, was carried out on two years acclimated somaplants, compared to the mother plant. Results demonstrated that the shape and contours of 46 somaclones leaves are identical to mother plant leaves and four phenotypically off-type plants were observed. The healthy state of 100% 'Hencha' somaclones and the high percentage of phenotypically true-to-type plants demonstrate that somatic embryogenesis is a promising technique to adopt for grapevine viruses elimination.

Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We describe a new case of Donohue syndrome born at 37 weeks' gestation of unrelated parents and presented with intra-uterine growth retardation, nipple hypertrophy, macropenis, distended abdomen, hirsutism and dysmorphic features. The clinical course showed failure to thrive, and episodes of alternating hypoglycemia and hyperglycemia. Laboratory tests revealed direct hyperbilirubinemia. The diagnosis of Donohue syndrome was established based on the above clinical characteristics and determination of the INSR mutation. He was found to have homozygous nonsense mutation c. 2270 C>T (Arg924X) at exon 14 of the INSR gene. He later developed enterocolitis and died at 3 months old. Prenatal diagnosis was performed for the family via chorionic villous biopsy. We try to explain gastrointestinal dysfunction seen in our patient.

Cushing syndrome (CS) is a rare feature of McCune-Albright syndrome. Treatments consist of bilateral adrenalectomy followed by lifelong glucocorticoid and mineralocorticoid treatment. However, cases of spontaneous remission of CS have been reported in the literature. We report a case of McCune-Albright syndrome with CS treated with metyrapone for 30 months with prolonged remission after a 12-year follow-up. Adrenalectomy may be avoided in some cases of CS caused by McCune-Albright syndrome. Metyrapone could be a good alternative to surgical treatment., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

Background/aims: Transanal endoscopic microsurgery is a minimally invasive technique that allows the excision of benign and selected malignant tumours. We present a study for evaluating surgical morbidity, mortality and local recurrence rate of patients with rectal adenomas treated with transanal endoscopic microsurgery in six different Italian centres following the same protocol., Methods: A total of 882 patients with rectal lesions (adenomas and early stage of carcinomas) underwent transanal endoscopic microsurgery in six different Surgical Departments from January 1993 to October 2004. Five hundred and ninety patients had preoperative diagnosis of adenomas but 588 patients were regularly followed up to determine treatment efficacy in terms of local recurrence rate., Results: The study involved 588 patients, with a median age of 66 years (25th percentile-75th percentile=58-71 years). No postoperative mortality was reported. Intraoperative complications were observed in three patients (0.5%). Minor complications occurred in 48 patients (8.2%) whereas major complications were found only in 7 patients (1.2%). Definitive histology confirmed adenomas in 530 cases (90.1%). Two patients (0.3%) were lost to follow-up so were not included in the paper. At median follow-up of 44 months (25th percentile-75th percentile=15-74 months), 23 (4.3%) adenomas recurred and were successfully retreated by transanal endoscopic microsurgery [20 cases (87%)] and by conventional surgery [3 patients (13%)]. No further recurrences were observed at subsequent follow-up. Thirty-one (5.3%) patients died during follow-up for old age, cardiac disease, etc., Conclusions: Transanal endoscopic microsurgery is, in our experience, an effective method for local resection of benign rectal tumours with morbidity of 11.4%, no postoperative mortality and with a percentage of local recurrence of 4.3%.

Ischaemia is a rare but often lethal aetiology of pancreatitis. A 67-year-old man underwent aortocoronary by-pass. Postoperatively, he developed atrial fibrillation and possibly acute myocardial infarction. Later, he had acute pancreatitis and underwent laparotomy for purulent peritonitis due to a ruptured pancreatic abscess. Cholesterolosis was found but no gallstones. The postoperative period was heavily complicated and the patient eventually died due to multiorgan failure. The occurrence of ischaemic pancreatitis should be more readily suspected in patients with abdominal symptoms following surgery that induces ischaemia of the pancreas. It is possible that delay in diagnosis accounts for the high death rate of such postoperative complication.

A 27-yr-old man was referred for fever, weight loss, fatigue, and occasional mild epimesogastric pain without diarrhea or vomiting. Laboratory tests were suggestive of an active inflammatory disease but serological, bacteriological, viral searches, markers of autoimmunity, and neoplasia were all negative. The following were also negative: ultrasonography; conventional x-rays; CT scans; esophagogastroduodenoscopy, pancolonoscopy with ileoscopy; cytohistology including duodenum and ileocolon. Empiric antibiotic regimens failed to control the temperature. Small bowel enema disclosed multiple proximal jejunal strictures. Jejunoscopy revealed erythema, friability, linear ulcerations, stenosis, and dilation in the proximal jejunum. Multiple directed biopsies showed inflammatory changes devoid of any specific features. The patient received steroid treatment and his temperature normalized. Six months later, he was readmitted on account of intestinal subocclusion that was managed conservatively. A few days later urgent laparotomy was performed with peritoneal lavage, repair of double perforated proximal jejunal ulcers, and stricturoplasty. Surgical jejunal biopsy confirmed the results of enteroscopic biopsies. The patient is presently without fever, in the absence of steroid treatment. There have been no reports of cryptogenic fever due to isolated jejunal Crohn's disease in the recent literature. Our patient's clinical picture resembled disease as seen in older children and adolescents, in whom it is a difficult diagnosis owing to the absence of diarrhea. In adults with Crohn's disease isolated jejunal involvement represents approximately 1% of cases. A thorough small bowel investigation is warranted in young adults with cryptogenic fever and low serum protein levels, even in the absence of major gastrointestinal complaints.

The internal anal sphincterotomy operation represents the best therapy for the treatment of those anal lesions, above all anal fissures, which cause hypertrophy and spasms of the internal anal sphincter. The Authors report their experience of 253 operations of internal subcutaneous sphincterotomy carried out between 1989 and 1995 under local anaesthesia in the outpatient clinic. The excellent results achieved prove that the procedure can easily be carried out under local anaesthesia in an outpatient clinic and, therefore, it is preferable to the surgical technique of isolation of the internal sphincter, not only for its practicality but also for the improved results.

The Italian experience with Transanal Endoscopic Microsurgery (TEM) started in 1991. Until April, 1994, 122 patients were operated on by such a technique in six centres. The surgical protocol in the 66 patients with benign lesions was similar to that described by Buess. In contrast to the German experience, the indications of TEM for cancer have been extended to more advanced tumours and in 22 out of 56 patients with rectal carcinoma adjuvant radiation- or radiation-chemotherapy have been applied according to various protocols. In 88% of TEM for rectal tumours the operation has been carried out according to a full-thickness technique, with or without perirectal fat excision. Postoperative morbidity of TEM for adenoma was 15.8% and that of TEM for carcinoma 29.6%. There was no postoperative mortality. Local recurrence rate after TEM for adenoma was 10.5%, while that after TEM for cancer was 9.25%. No local recurrence has been reported among patients treated with a combination of TEM and adjuvant radiation treatments. The median follow-up in the 6 centres ranged between 7 and 16 months. A randomised prospective clinical trial has been planned in order to evaluate the role of transanal endoscopic microsurgery in the treatment of locally advanced rectal cancer.

The cost-benefit ratio of laparoscopy vs laparotomy was evaluated comparing 2 groups of patients: 500 operated using traditional laparotomy and 500 operated via laparoscopy. The first parameter considered was the average hospital stay, which was 8.4 days (min. 3, max. 22 days) in group I (laparotomy) (Fig. 1) against 4 days (min. 2, max. 13 days) in group II (laparoscopy). Even more interesting were the results related to the average postoperative hospital stay: 5 days for laparotomy, 2 days for laparoscopy. Currently, 90% of patients submitted to laparoscopic cholecystectomy is discharged in the first postoperative day. The cost of the surgical procedure is 1,100,000 It. Lit. for laparotomic cholecystectomy and 2,130,000 It. Lit. for laparoscopic cholecystectomy. However, considering the cost of the daily hospital stay and adding the cost of the surgical procedure we already save 50% with the laparoscopic method. Furthermore, if we consider the time occurring between patients' discharge and return to work a 50% reduction of the postoperative recovery time is obtained. The conclusions of the Authors are the following: Laparoscopic cholecystectomy performed by skilled surgeons presents an incidence of complications comparable to traditional cholecystectomy. The operating time is almost the same for both methods. Operative costs are higher for the laparoscopic technique. Postoperative hospital stay is drastically reduced with the laparoscopic procedure. Return to work is assured in a shorter time after laparoscopy.