Forgoing Exchange Transfusion in Neonatal Hyperbilirubinemia: A Single-Center Retrospective Cohort Study.

INTRODUCTION: Unconjugated hyperbilirubinemia is part of the everyday life of the neonatal period as it reflects the adaptation of the metabolism of bilirubin. The neonatal hyperbilirubinemia usually resolves spontaneously, but it can also be the cause of an acute or chronic encephalopathy known as kernicterus. Regardless of the cause, the goal of therapy is to prevent this neurotoxicity while not causing undue harm. Phototherapy and, if it is unsuccessful, exchange transfusion (ECT) remain the primary treatment modalities used to keep the maximal total serum bilirubin (TSB) below pathologic levels. MATERIALS AND METHODS: This is a descriptive retrospective cohort study of 69 live neonates hospitalized in the Department of Neonatology and Neonatal Resuscitation of Mohammed VI University Hospital with unconjugated hyperbilirubinemia requiring ECT and treated with intensive phototherapy instead, spanning five years from March 2016 to March 2021. We aim to demonstrate the effectiveness of phototherapy in achieving prolonged reduction of bilirubin levels and the prevention of neurological complications and to compare our results with those in the literature. RESULTS: The use of intensive phototherapy in the treatment of neonatal unconjugated hyperbilirubinemia is very effective in lowering total serum bilirubin when its level is in the range of exchange transfusion, and it has succeeded in preventing the neurological complications of severe hyperbilirubinemia. CONCLUSION: Through this study, it can be seen that phototherapy is an efficacious, simpler, and less hazardous alternative to exchange transfusion in achieving a sustained reduction of bilirubin levels and preventing neurological complications.

First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array.

BACKGROUND: Chromosomal abnormalities are the main cause of birth defects, intellectual disability, and miscarriages. They contribute to significant human morbidity and infant mortality. Here we report for the first time the chromosomal abnormalities encountered in the population of Eastern Morocco. Furthermore, we describe a new case of a de novo partial trisomy 13q combined with a terminal deletion in an 11-day-old girl. METHODS: From November 2015 to March 2022, 195 patients from the BRO Biobank who were clinically suspected of having chromosomal abnormalities were referred to the cytogenetics laboratory of the Genetics Unit of the Faculty of Medicine and Pharmacy of Oujda for cytogenetic study. Karyotyping analysis was performed on peripheral blood samples using standard R banding techniques. To identify single-nucleotide polymorphism (SNP) and copy number variants (CNVs), Illumina SNP array was used. RESULTS: Among 195 studied cases, 32 (16.4 %) had abnormal karyotypes, of which 12 cases had numerical aberrations while 20 cases had structural aberrations. The most common numerical aberrations were Turner syndrome and Down syndrome followed by Edward, Patau, and Klinefelter syndromes. For structural aberrations, translocations were the most common, followed by derivative chromosomes, inversions, deletions, and an addition on chromosome 13 identified in an 11-day-old girl. To further characterize this addition, SNP array was carried out and revealed a 58.8-Mb duplication in region 13q14.3q34 associated with a 1-Mb deletion in region 13q34. Follow-up parental chromosomes analysis showed normal karyotypes for the parents, confirming that this partial trisomy 13q was de novo. Comparison of the phenotype associated with this novel duplication on chromosome 13q with those previously reported confirmed the considerable variability in the phenotype of the patients with partial trisomy 13q. CONCLUSION: This study provided the first report on chromosomal abnormalities in Eastern Morocco and it enriched the phenotype spectrum of partial trisomy 13q and further confirmed the genotype-phenotype correlations. Furthermore, these findings justify the need to set up microarray comparative genomic hybridization techniques in Morocco for better genetic diagnosis.

[Contribution of cytogenetic in the diagnosis of Edwards's syndrome: about 9 cases]. / Apport de la cytogénétique dans le diagnostic du syndrome d'Edwards : à propos de 9 cas.

INTRODUCTION: Trisomy 18 is a constitutional chromosomal disorder defined by the presence of a supernumerary chromosome 18. The diagnosis is suspected clinically and confirmed by cytogenetic analysis. Genetic counseling for patients' families is important. The objective of this study is to report our experience in Medical Genetics Department at the Mohammed VI University Hospital of Oujda in the diagnosis and genetic counseling of trisomy 18 through dysmorphological expertise and cytogenetic analysis. MATERIAL AND METHODS: We report a retrospective descriptive study over a period of four years (2018-2022) of nine patients with polymalformative syndrome suggestive of trisomy 18 who underwent cytogenetic analysis. RESULTS: The median age of patients at diagnosis was 2 days with a male predominance. The mean maternal age at birth of the patients in our series was 40 years. Consanguinity was found in only one patient. All patients had a typical phenotype of trisomy 18. The postnatal constitutional karyotype showed a homogeneous trisomy 18 in all patients. In our series, only one patient is still alive at the age of 7 months, the other 8 patients died with a median postnatal survival of 5 days. CONCLUSION: We underline through this study, the contribution of the medical geneticist in the clinic and cytogenetic diagnostic approach of rare chromosomal affections, in order to provide an adequate genetic counseling to the families.

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.

PURPOSE: Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability. METHODS: By international collaboration, we assembled individuals with pathogenic RHOBTB2 variants and a variable spectrum of neurodevelopmental disorders. By western blotting, we investigated the consequences of missense variants in vitro. RESULTS: In accordance with previous observations, de novo heterozygous missense variants in the BTB domain region led to a severe developmental and epileptic encephalopathy in 16 individuals. Now, we also identified de novo missense variants in the GTPase domain in 6 individuals with apparently more variable neurodevelopmental phenotypes with or without epilepsy. In contrast to variants in the BTB domain region, variants in the GTPase domain do not impair proteasomal degradation of RHOBTB2 in vitro, indicating different functional consequences. Furthermore, we observed biallelic splice-site and truncating variants in 9 families with variable neurodevelopmental phenotypes, indicating that complete loss of RHOBTB2 is pathogenic as well. CONCLUSION: By identifying genotype-phenotype correlations regarding location and consequences of de novo missense variants in RHOBTB2 and by identifying biallelic truncating variants, we further delineate and expand the molecular and clinical spectrum of RHOBTB2-related phenotypes, including both autosomal dominant and recessive neurodevelopmental disorders.

Balanced scorecard for a neonatology department of a university hospital.

INTRODUCTION: improving performance is a major challenge for hospitals. Measuring it is an arduous task for managers, requiring the implementation of innovative management tools. Nevertheless, it is clear that performance in the Oujda University Hospital neonatology department is intuitively assessed according to a more medical logic that focuses on patient recovery, ignoring other dimensions. The deficit is noted in the use of performance measurement and analysis tools. AIM: To design a balanced, multidimensional scorecard specific to the SN-CHU department and to make it available to managers to help them steer their performance and make decisions. METHODS: an intervention research based on a constructivist approach was carried out in the field through 12 interviews with CHU managers. The analysis of the care circuit and process was carried out by means of 37 interviews with carers, supplemented by 30 observations. A series of meetings has enabled to elaborate and validate a set of service performance indicators. RESULTS: The study revealed that a balanced, multi-dimensional dashboard model has been designed to be available to managers in the UHC-ND. It includes 29 clear, realistic, adapted, accurate, accessible, simple and ergonomic performance indicators. It reflects four measurement dimensions related to organisational development, internal processes, customers and finance. The tool is applicable according to a logic of causality between its axes and allows a descriptive and comparative interpretation of its results. The measures in the model converge mainly towards the satisfaction of patient needs. CONCLUSION: the construction of such a model has been a real success, because of the determination of decision-makers. However, its translation could be confronted with a low level of commitment from operational staff. Which would require the vigilant passage through a preparation for implementation, taking into account the "player".

Leclercia adecarboxylata invasive infection in a patient with Hirschsprung disease: A case report.

INTRODUCTION: Leclercia adecarboxylata is a ubiquitous aerobic, motile, gram-negative bacilli. The human gastro-intestinal tract is known to harbor this rarely opportunistic microorganism. We describe a rare case of invasive infection with a gastrointestinal starting point due to L. adecarboxylata in a patient with Hirschsprung disease. CASE REPORT: It is about a newborn female who was admitted on the 3rd day of life to the neonatal intensive care unit for intestinal obstruction. On the 9th day of life, while managing the neonatal obstruction, the patient developed febrile peaks. Cytobacteriological examination of cerebrospinal fluid, blood cultures and culture of umbilical vein catheter allowed the exclusive isolation of Leclercia adecarboxylata. It was producing extended spectrum beta-lactamase and was treated with intravenous imipenem. After favourable evolution, the patient was transferred to the pediatric surgery department. There, she was diagnosed with Hirschsprung disease. DISCUSSION: Knowledge of the route of transmission of L. adecarboxylata is limited and the possible source of the infection is unclear. However, the authors describe three hypotheses of contamination of our propositus. In our patient, one or more of these routes of contamination would be possible. Indeed, bacteremia could occur as a result of a bacterial translocation across the mucosal barrier of the colon altered by Hirschsprung disease, antibiotic use and feeding practices. CONCLUSION: Infection with L. adecarboxylata revealed a wide range of infection. It has only recently been acknowledged as an emerging pathogen. Further studies of the pathogenesis and risk factors are required.

Dietary Patterns Influence Target Gene Expression through Emerging Epigenetic Mechanisms in Nonalcoholic Fatty Liver Disease.

Nonalcoholic fatty liver disease (NAFLD) refers to the pathologic buildup of extra fat in the form of triglycerides in liver cells without excessive alcohol intake. NAFLD became the most common cause of chronic liver disease that is tightly associated with key aspects of metabolic disorders, including insulin resistance, obesity, diabetes, and metabolic syndrome. It is generally accepted that multiple mechanisms and pathways are involved in the pathogenesis of NAFLD. Heredity, sedentary lifestyle, westernized high sugar saturated fat diet, metabolic derangements, and gut microbiota, all may interact on a on genetically susceptible individual to cause the disease initiation and progression. While there is an unquestionable role for gene-diet interaction in the etiopathogenesis of NAFLD, it is increasingly apparent that epigenetic processes can orchestrate many aspects of this interaction and provide additional mechanistic insight. Exciting research demonstrated that epigenetic alterations in chromatin can influence gene expression chiefly at the transcriptional level in response to unbalanced diet, and therefore predispose an individual to NAFLD. Thus, further discoveries into molecular epigenetic mechanisms underlying the link between nutrition and aberrant hepatic gene expression can yield new insights into the pathogenesis of NAFLD, and allow innovative epigenetic-based strategies for its early prevention and targeted therapies. Herein, we outline the current knowledge of the interactive role of a high-fat high-calories diet and gene expression through DNA methylation and histone modifications on the pathogenesis of NAFLD. We also provide perspectives on the advancement of the epigenomics in the field and possible shortcomings and limitations ahead.

Morocco's First Biobank: Establishment, Ethical Issues, Biomedical Research Opportunities, and Challenges.

BACKGROUND: Biobanks are highly organized infrastructures that allow the storage of human biological specimens associated with donors' personal and clinical data. These infrastructures play a key role in the development of translational medical research. In this context, we launched, in November 2015, the first biobank in Morocco (BRO Biobank) in order to promote biomedical research and provide opportunities to include Moroccan and North African ethnic groups in international biomedical studies. Here, we present the setup and the sample characteristics of BRO Biobank. METHODS: Patients were recruited at several departments of two major health-care centers in the city of Oujda. Healthy donors were enrolled during blood donation campaigns all over Eastern Morocco. From each participant, personal, clinical, and biomedical data were collected, and several biospecimens were stored. Standard operating procedures have been established in accordance with international guidelines on human biobanks. RESULTS: Between November 2015 and July 2020, 2446 participants were recruited into the BRO Biobank, of whom 2013 were healthy donors, and 433 were patients. For healthy donors, the median age was 35 years with a range between 18 and 65 years and the consanguinity rate was 28.96%. For patients, the median age was 11 years with a range between 1 day and 83 years. Among these patients, 55% had rare diseases (hemoglobinopathies, intellectual disabilities, disorders of sex differentiation, myopathies, etc.), 13% had lung cancer, 4% suffered from hematological neoplasms, 3% were from the kidney transplantation project, and 25% had unknown diagnoses. The BRO Biobank has collected 5092 biospecimens, including blood, white blood cells, plasma, serum, urine, frozen tissue, FFPE tissue, and nucleic acids. A sample quality control has been implemented and suggested that samples of the BRO Biobank are of high quality and therefore suitable for high-throughput nucleic acid analysis. CONCLUSIONS: The BRO Biobank is the largest sample collection in Morocco, and it is ready to provide samples to national and international research projects. Therefore, the BRO Biobank is a valuable resource for advancing translational medical research.

Assessment of surface cleaning and disinfection in neonatal intensive care unit.

BACKGROUND: Surveillance for healthcare-associated infections (HAI) is a priority in the neonatal intensive care unit (NICU), given the critical immune status of patients. The aim of this study was to assess surface bacterial contamination before and after improving cleaning and disinfection practices. MATERIALS AND METHODS: This was a cross-sectional study conducted in March 2018. Surface samples were taken from the same areas in three steps: after cleaning, after "improved" cleaning, and after terminal disinfection using hydrogen peroxide vapor (VHP). Sampling and culture was carried out according to standard ISO14698-1: 2004. Results interpretation was based on the thresholds defined by good hospital pharmacy practice. Statistical analysis was performed by SPSS 21.0 and a P-value < 0.05 was considered to be significant. RESULTS: In total, 290 samples were taken from different zones: fixed equipment (69%), aseptic washbasins (12%), pneumatic system (9%), computer equipment (6%) and mobile equipment (4%). Prevalence of non-compliances after cleaning and disinfection was 75%, 10% after "improved" cleaning, and 0% after automated VHP (P < 0.0001). Median of CFU was 24[EI (0-625)] after standard cleaning, 2[EI (0-35)] after "improved" cleaning and 0 [EI (0-3)] after VHP (P < 0.0001). Isolated germs werecoagulase-negative Staphylococcus (31.2%), Acinetobacter baumannii (26%), Staphylococcus aureus (19.5%), Pseudomonas aeruginosa (9%), Klebsiella pneumoniae (9%), E. coli (4%) and Enterobacter sp (1.3%). CONCLUSION: Improved cleaning and disinfection practices associated to VHP give microbiological satisfactory results. It is important to educate cleaning staff for effective surface cleaning and disinfection operations to control HAI.

[Congenital gangrene: a rare condition during the neonatal period: a case study]. / Gangrène congénitale entité rare en néonatalogie: à propos d'une observation.

Neonatal gangrene is a rare condition during the neonatal period. Its prognosis is generally poor. Acute ischemia of the limbs is most often caused by thromboembolic events. Although there are several predisposing factors, in the majority of cases no causative factor is found. Also the extent of the gangrene is variable; it can affect one or several fingers or toes or even the whole upper or lower limb. We here report a case of congenital gangrene of the hand treated in our Department.

How thoracic surgeon manage tracheal tumors in African country? (Case series).

INTRODUCTION: Tracheal tumors are a rare pathological entity whose diagnosis is usually delayed by clinical latency. Surgery, which consists of a tracheal resection-anastomosis with or without reconstructive reconstruction, remains the treatment that ensures the best long-term survival. METHODS: This is a retrospective study about 8 patients admitted in the department of thoracic surgery of Hassan II's university hospital of Fes for tracheal tumors management during 7 years time (December 2010 to December 2017). RESULTS: There were 6 men and 2 women with an average age of 44.4 years ranged from 17 to 65 years, 4 were smokers. Dyspnea was the main trigger sign. Seven (7) have undergone bronchial fibroscopy diagnostic with a finding of budding process in 5 patients, the middle of the trachea is often concerned in 3 patients, obstructing the lumen of the trachea in almost all patients. The treatment in all patients was surgical with an intubation via the operative field, 4 trachea resection-anastomosis, 4 plasty (Lateral resection with V plasty, Kergin's plasty, Mattey's tracheobronchial anastomosis and widened V-resection to the carina). The most common histological type in our series was Adenoid Cystic Carcinoma in 2 of our patients. For the other patients we have found squamous cell carcinoma (1 case), adenocarcinoma (1 case), atypical carcinoid tumor (1 case), low grade mucoepidermoid carcinoma (1 case), an adenoma pleomorph (1 case) and endotracheal goiter (1 case). The operative follow-up was simple in 7 of our patients, all of whom underwent post-operative fibroscopy within an average of 9 days. Two cases of post-operative recurrent palsy had been observed, all of which had progressed well under treatment. We have noted 2 deaths, including one at day 4 post-operative, and the other died from complications of post-radiation tracheal stenosis. Back to 32 months' average follow-up, we have enregistered a case of a distant relapse by cervical lymph node metastasis in one patient, 5 years after surgery. CONCLUSION: Primary tumors of the trachea remain of reserved prognosis with 5-year survival of 57% of all histological types combined. Computed tomodensitometry and tracheobronchial fibroscopy remain the means of reference exploration in the diagnosis and assessment of surgical resectability.

[Congenital factor VII deficiency: about two family cases]. / Déficit congénital en facteur VII de coagulation: à propos de deux cas familiaux.

Factor VII deficiency is rare, with an estimated prevalence rate of 1/1,000,000. It is transmitted as an autosomal recessive trait. It can cause simple nosebleeds up to cerebral hemorrhage. Our study aims to focus on the clinical features and the importance of screening in patients with this rare deficit. We report the cases of two brothers with this deficit. Child aged 8 years, born to non-consanguineous marriage who was the youngest of two children. He had a history of post-circumcision bleeding and was admitted to our Department for the treatment of recurrent nosebleeds occurred over the last 4 years. Screening tests of hemostasis showed low Prothrombin (PT), normal Activated thromboplastin time (ATT), while factor assay revealed factor VII deficiency with a rate of 26%. The patient underwent spaced fresh frozen plasma (FFP) transfusions due to nosebleeds and wounds. Family screening was not performed. The eldest brother, aged 11 years, presented with very abundant nosebleeds. Somatic examination was unremarkable. Given his history, the patient underwent factor VII assay revealing a rate of 55% and parent screening was scheduled. The diagnosis of congenital factor VII deficiency in a patient motivates family screening in order to perform screening tests in other carriers of factor VII deficiency. This would avoid severe manifestations, even fatal, considering that studies have not shown a correlation between factor VII rate and the severity of patient's status.