Lipoprotein Lipase (LPL) Gene Mutation: A First Report in Children

Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a rare mutation identified. It’s a genetic chylomicronemia in a Moroccan newborn baby, with massive hypertriglyceridemia and clinical signs of acute pancreatitis. She was a newborn female, first-degree of consanguineous parents. She was hospitalized for hypertriglyceridemia, complicated by acute pancreatitis; serum was noted to be milky. The genetic study found a mutation of the Lipoprotein Lipase (LPL) gene: homozygous pathogenic variant c.1019-3C > A. She enjoyed good health, developed well and the triglyceride was maintained at a concentration o

Implementation of an Affordable Method for MPS Diagnosis from Urine Screening to Enzymatic Confirmation: Results of a Pilot Study in Morocco

Background: Rapid and accurate diagnosis of mucopolysaccharidoses (MPS) is still a challenge due to poor access to screening and diagnostic methods and to their extensive clinical heterogeneity. The aim of this work is to perform laboratory biochemical testing for confirming the diagnosis of mucopolysaccharidosis (MPS) for the first time in Morocco. Methods: Over a period of twelve months, 88 patients suspected of having Mucopolysaccharidosis (MPS) were referred to our laboratory. Quantitative and qualitative urine glycosaminoglycan (GAG) analyses were performed, and enzyme activity was assayed on dried blood spots (DBS) using fluorogenic substrates. Enzyme activity was measured as normal, low, or undetectable. Results: Of the 88 patients studied, 26 were confirmed to have MPS; 19 MPS I (Hurler syndrome; OMIM #607014/Hurler-Scheie syndrome; OMIM #607015), 2 MPS II (Hunter syndrome; OMIM #309900), 2 MPS IIIA (Sanfilippo syndrome; OMIM #252900), 1 MPS IIIB (Sanfilippo syndrome; OMIM #252920) and 2 MPS VI (Maroteaux-Lamy syndrome; OMIM #253200). Parental consanguinity was present in 80.76% of cases. Qualitative urinary glycosaminoglycan (uGAGs) assays showed abnormal profiles in 31 cases, and further quantitative urinary GAG evaluation and Thin Layer Chromatography (TLC) provided important additional information about the likely MPS diagnosis. The final diagnosis was confirmed by specific enzyme activity analysis in the DBS samples. Conclusions: The present study shows that the adoption of combined urinary substrate analysis and enzyme assays using dried blood spots can facilitate such diagnosis, offer an important tool for an appropriate supporting care, and a specific therapy, when available

Health professional stress during COVID-19 pandemic

WHO declared the coronavirus disease 2019 (COVID-19) outbreak, caused by SARS-CoV-2, to be a pandemic on March 12, 2020. In Morocco, the first case was reported in March 2nd 2020. The mental health of general population, medical and nursing staff especially has been greatly challenged. The aim of the present article is to explore the stress status of medical and nursing staff associated with exposure to the COVID-19. The medical staff was asked to complete a self-reported questionnaire anonymously. In University Hospital Mohamed VI, in Marrakesh, Morocco. During May 2020. In total, 120 valid questionnaires were collected. Among them, there were 57 residents (47,5%), 30 internes (25%), 22 nurses (19%) and others: medicine students and technical staff. The age was between 23 and 60 years. 15% of professional lived alone, 85% with their family, 74% lived with an old person or with a person having a chronic disease. In our study: the severity of symptoms in 36% of the asked professional, deaths among health professionals in 15%, death of a family member in 14%, the rapid spread of pandemic in 90%, the lack of knowledge in 83%, and finally contamination risk especially if comorbidity associated in 2%. Further risk factors: feelings of being inadequately supported by the hospital in 42%, fear of taking home infection to family members or others in 80%, being isolated, feelings of uncertainty and social stigmatization in 43%. The psychological presentation was the nightmare 19 in %, the insomnia in 48%, the somatization in 18%, the irritability in 22%, the aggressiveness in 14%, the nervousness in 70% and the drowsiness in 5%. During the vulnerability of the individual’s conditions during and after the COVID-19, psychological intervention should be done and a mental health support for the health professional

Study of Bacterial Contamination of Mobile Phones and Stethoscopes in Neonatal Intensive Care Unit

Mobile phones and stethoscopes used in neonatology units could be colonized by potentiel bacteria pathogens. It can be a vector of severe nosocomial infections and multi-drug-resistant pathogens. The aim of this study is to evaluate the microbial contamination of mobile phones and stethoscopes, used by medical and paramedical staff. The study was conducted in neonatal intensive care unit (NICU) of Mohamed VI University Hospital, Marrakech (Morocco) in April 2016. The bacteriological study was made on 17 mobile phones and 13 stethoscopes. Samples were taken from all surfaces of mobile phones and stethoscopes, with a sterile swab. Bacterial contamination rate of all mobile phones and stethoscopes was 100%. The cultures of bacteria isolated were polymorphic. Among the bacteria isolated, six multi-resistant bacterial strains were isolated at the mobile phones (35%), corresponding to 4 Klebsiella pneumoniae and 2 strains of E. coli. A strain of Klebsiella pneumoniae multidrug-resistant (7.7%) was found on a stethoscope. This study shows that mobile phones and stethoscopes could be involoved in the transmission of severe nosocomial infections, with multidrug-resistance. As part of the prevention of such risks, we must educate the medical staff, users of mobile phones on the importance of hand washing and use of hydro-alcoholic solutions after each use of mobile phones and stethoscopes

Emergence of OXA-48 Carbapenemase Producing in a Neonatal Intensive Care Unit in Marrakech, Morocco

Goal: This work aims to describe and explore the circumstances of appearance of Klebsiella pneumoniae producing OXA-48 carbapenemase, which has occurred in a neonatal intensive care service at the Mohammed VI University Hospital of Marrakech. Results: During February 2015, the alert was triggered by the isolation of 6 isolates of K pneumoniae with the same antibiotic susceptibility profile in the neonatal intensive care service, suggesting a possible outbreak. Blood cultures represented the main site of isolation of these isolates. The phenotypic study of the isolates made it possible to identify a strain of K pneumoniae susceptible to third-generation cephalosporins, ciprofloxacin, and aminoglycosides, and resistant to ertapenem, β-lactamases inhibitors (ticarcillin-clavulanate, piperacillin-tazobactam; amoxicillin-clavulanic acid), and cotrimoxazole. The genotypic study of the epidemic isolate revealed the presence of the bla OXA-48 gene. The action to be taken was the establishment of corrective measures to stop this epidemic to a multi-resistant germ transmitted by hand transmission. The reinforcement of hygiene measures and the awareness of the staff made it possible to put an end to the epidemic at March 30, 2015, without closing the service. The outcome of 6 infected newborns was fatal due to the fragile terrain and the inappropriate probabilistic antibiotic therapy. Conclusion: The production of carbapenemase in K pneumoniae is an emerging resistance mechanism that must be suspected and identified to offer targeted therapy and to limit its spread. The implementation of a local policy to control multidrug-resistant germs is essential to limit their dissemination in hospitals

Management of Severe COVID-19 in Pregnancy

The scarcity of data concerning pregnant patients gravely infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) makes their management difficult, as most of the reported cases in the literature present mild pneumonia symptoms. The core problem is laying out evidence on coronavirus’s implications on pregnancy and delivery, as well as vertical transmission and neonatal mortality. A healthy 30-year-old pregnant woman, gravida 6, para 4, at 31 weeks of gestation, presented severe pneumonia symptoms promptly complicated with premature rupture of membranes (PROM). A nasopharyngeal swab returned positive for SARS-CoV-2 using reverse transcription polymerase chain reactions (RT-PCR). The parturient underwent a cesarean delivery. This paper is an attempt to outline management of the critical condition of COVID-19 during pregnancy