The HeRO score: Enhancing prognosis and predicting nosocomial infections in newborns: Insights from the neonatal intensive care unit.

BACKGROUND: Nosocomial infections pose a significant health risk to neonates, and traditional biomarkers used for diagnosis often fall short in predicting such infections. In this study, we evaluate the efficacy of the HeRO (Heart Rate Observation score), a novel predictive tool for late-onset neonatal sepsis, in improving neonatal prognosis and reducing morbidity and mortality rates. METHODS: A prospective study was conducted from September 2020 to May 2021, reviewing patient evaluation for all neonates admitted to the neonatal intensive care unit during this period after the implementation of the HeRO score. RESULTS: Of the 100 cases studied, preterm neonates accounted for the majority (51%), with 65% being born at gestational age greater than 32 weeks and 35% born at less than 32 weeks. A male-to-female sex ratio of 1.56. Perinatal asphyxia was the primary reason for initial hospitalization, often accompanied by pulmonary neonatal infection. The HeRO score showed an increase within 24 hours of the onset of clinical signs of sepsis in 52% of cases and after 24 hours in 47% of cases. In 51% of cases, the score exhibited an increase greater than 2. Blood cultures were positive in 91% of cases. The duration of hospital stays for newborns ranged from 7 to 42 days, with an average stay for newborns whose score rose 24 hours before clinical signs. CONCLUSION: This study highlights the significance of utilizing the HeRO score for predicting nosocomial infections in neonates, despite the possibility of false assumptions. Implementing the HERO score enables early intervention, thereby improving the assumption of responsibility and reducing neonatal morbidity and mortality rates.

Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.

Background: Wilson Disease (WD) is an autosomal recessive inherited metabolic disease caused by mutations in the ATP7B gene. WD is characterized by heterogeneous clinical presentations expressed by hepatic and neuropsychiatric phenotypes. The disease is difficult to diagnose, and misdiagnosed cases are commonly seen. Methods: In this study, the presented symptoms of WD, the biochemical parameters as well as its natural history are described based on cases collected in Mohammed VI Hospital University of Marrakech (Morocco). We screened and sequenced 21 exons of ATP7B gene from 12 WD patients that confirmed through biochemical diagnosis. Results: Mutational assessment of the ATP7B gene showed six homozygous mutations in 12 individuals however, 2 patients had no evidence of any mutation in promoter and exonic regions. All mutations are pathogenic and most were missense mutations. c.2507G > A (p.G836E), c.3694A > C (p.T1232P) and c.3310 T > C (p.C1104R) that were identified in 4 patients. The other mutations were a non-sense mutation (c.865C > T (p.C1104R)) detected in 2 patients, a splice mutation (c.51 + 4A > T) detected in 2 patients and a frameshift mutation (c.1746 dup (p.E583Rfs*25) detected in 2 patients. Conclusion: Our study is the first molecular analysis in Moroccan patients with Wilson's disease, the ATP7B mutational spectrum in the Moroccan population is diverse and still unexplored.

Update of a colorimetric method for quantitative determination of galactose in blood samples: A simple and rapid method for the early detection of inherited metabolic diseases.

BACKGROUND: A colorimetric microassay for the quantitative determination of galactose in the blood was taken and updated. This method helps in diagnosis and follow-up of several inherited metabolic diseases connected to galactose metabolism deficiency such as galactosemia, glycogenosis, glycosylation, tyrosinemia and citrin deficiency. Galactose assay in the blood presents difficulties due to interference with glucose. In this study, we update a method to get around these difficulties. METHOD: This procedure was based on the incubation of whole blood with orcinol in a strongly acidic solution to form a galactose and glucose complexes able to absorb at two different wavelengths. RESULTS: The standard curve analysis for the individual solutions of these two sugars showed a wide range of linearity from 0 to 200 mg / l. Under optimal experimental conditions, the stirring time of the orcinol is 3 minutes, the heating time of the reaction is 20 minutes at 56 ° C, and the duration of the incubation in the dark is 40 minutes. The analysis is carried out on fresh blood. The maximum absorbance of galactose and glucose is respectively 569 nm and 421 nm. An adapted diagnosis algorithm was developed based on our results. CONCLUSION: this method could help in screening and identifying patients with hypergalactosemia that need further investigations. It could represent a promising method for neonatal screening in countries with limited resources.

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.