Report of a case of Raine syndrome and literature review.

We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcification. New features in our patient are cerebellar hypoplasia and pachygyria. We review the literature and conclude that the triad of hypoplastic nose, exophthalmos and generalized osteosclerosis and/or intracranial calcification is consistent in all molecularly confirmed cases.

Microbiological Characteristics and Resistance Patterns in a Neonatal Intensive Care Unit: A Retrospective Surveillance Study.

BACKGROUND AND OBJECTIVE: This study aims to assess the prevalence and antimicrobial susceptibility patterns of bacterial infections associated with both early-onset sepsis (EOS) and late-onset sepsis (LOS). METHODOLOGY: This descriptive retrospective surveillance research was conducted on all neonates admitted to the neonatal ICU with bacterial sepsis, where positive cultures were isolated from sterile sites (either cerebrospinal fluid or blood) at Tawam Hospital, Al Ain, Emirate of Abu Dhabi, UAE, from January 2012 and December 2021. Antimicrobial susceptibility analysis was performed. RESULTS: The incidence of LOS (94.43%) was higher compared to EOS (5.56%). The most prevalent isolates (59.2%) were gram-positive bacteria, with gram-negative bacteria accounting for 40.8%. The leading isolates included coagulase-negative Staphylococci (CONS, 40.98%), Klebsiella (16.04%), Staphylococcus aureus (8.46%), Escherichia coli (8.24%), Pseudomonas (7.57%), and Group B Streptococcus (GBS, 5.12%). CONS were predominant in LOS cases (42.9%), while GBS was the main pathogen in EOS cases (44%). CONCLUSIONS: We observed reduced resistance levels of CONS against ampicillin, benzylpenicillin, clindamycin, erythromycin, fusidic acid, gentamicin, oxacillin, rifampicin, and trimethoprim/sulfa. S. aureus exhibited increased resistance to erythromycin, fusidic acid, gentamicin, and levofloxacin, while E. coli demonstrated decreased resistance against cephalothin, gentamicin, and trimethoprim/sulfa. The antibiotics currently employed empirically appear to provide adequate coverage against the most prevalent bacteria causing early- and late-onset neonatal infections.

Predictors of Extubation Failure in Very Low Birth Weight Infants at a Tertiary Care Hospital in Al Ain: A Retrospective Study.

OBJECTIVES: To identify and analyze the factors leading to extubation failure among very low birth weight infants in a specific tertiary care setting in Al Ain, emphasizing clinical and demographic variables. The study used medical data of Very Low Birth Weight (VLBW) infants admitted to the Neonatal Intensive Care Unit (NICU) from 1st January 2015 to 31st December 2019, and evaluated the incidence and risk factors associated with extubation failure. METHODS: Data was collected from the hospital's electronic records and tabulated in Excel sheets, with extubation failure defined as reintubation due to deterioration of respiratory condition within seven days post-extubation. The data was collected from the period of 1st January 2015 to 31st December 2019. Inclusion criteria included babies admitted to the NICU with a gestational age of ≤ 32 weeks, or of birth weight ≤1500 grams who were intubated within the first seven days of life. Results were analyzed using SPSS software, version 9.0 (SPSS Inc., Chicago) to determine the risk factors for extubation failure and short-term outcomes. RESULTS: Gestational age, birth weight, antenatal steroids, mode of delivery, number of Survanta® (beractant intratracheal suspension) doses, Positive End-Expiratory Pressure (PEEP), Mean Airway Pressure (MAP), Mean Arterial Pressure (Blood Pressure (BP)), and Infectious Diseases (ID) (indicated by a positive blood culture) were found to be the key predictors of extubation failure in very low birth weight infants at a tertiary care hospital in Al Ain. The most common reasons for reintubation were FiO2 > 50% (23.53%), followed by Respiratory Acidosis (20.59%). Other factors, including maternal chorioamnionitis, Apgar scores, indication for intubation, caffeine, and pre-and post-extubation laboratory values, comorbidities, and hemoglobin (Hgb), creatinine and sodium levels were found to have no effect on the success of extubations. CONCLUSIONS: The results of this research indicate that factors such as gestational age, birth weight, prenatal steroid use, delivery method, the quantity of Survanta® doses, PEEP, MAP, MAP (BP), and ID (+ve blood culture) were the primary determinants of unsuccessful extubation in VLBW babies at a tertiary healthcare facility in Al Ain. The predominant cause for needing reintubation was a FiO2 level above 50%, followed by Respiratory Acidosis. Additional ®®investigations are required to validate these findings and pinpoint other potential predictors of extubation failure within this demographic.

Assessment of initial vancomycin trough levels and risk factors of vancomycin-induced nephrotoxicity in neonates.

OBJECTIVES: Vancomycin is a glycopeptide antibiotic commonly used in neonatal intensive care units (NICUs) to treat late onset sepsis. It is recommended that vancomycin trough levels at steady state following intermittent dosing regimen be maintained at 10-20 mg/L, which is largely dependent on the type of infection. Our objective is to assess the ability of initial vancomycin dosing regimens to obtain target trough levels and to assess the percentage and risk factors associated with the development of acute kidney injury (AKI) while on vancomycin. METHODS: This is a retrospective review of all NICU patients admitted between January 2016 and December 2017 who received vancomycin according to the NeoFax at either 10 mg/kg/dose (low-dose group, LDG) or 15 mg/kg/dose (high-dose group, HDG), with a frequency based on the postmenstrual age (PMA) and postnatal age (PNA). Both regimens were compared by their ability to attain target trough levels and the episodes of vancomycin-induced AKI. Other outcomes included identification of risk factors associated with the development of vancomycin-induced nephrotoxicity. RESULTS: Of 182 patients evaluated, 44 (24%) were in the LDG and 138 patients (76%) were in the HDG. Ninety-one patients (50%) attained target trough levels of 10-20 mg/L. Among these and according to patients' PMA, 48% in the HDG versus 7% in the LDG in PMA ≤29 weeks and 69% in the HDG versus 18% in the LDG in PMA 30-36 weeks attained target trough levels (p=0.006 and p<0.001, respectively). According to PNA, 47% in the HDG versus none in the LDG in patients <7 days old and 61% in the HDG versus 10% in the LDG in patients aged 8-14 days attained target trough levels (p=0.025 and p=0.016, respectively). A total of 14% developed AKI in the LDG vs 7% in the HDG (p=0.225). Only PMA ≤29 weeks (OR, 4.5, 95% CI 1.5 to 13), vancomycin trough levels >20 mg/L (OR 5.1, 95% CI 1.5 to 17), hypotension (OR 11.02, 95% CI 3.5 to 34) and furosemide (OR 4.4, 95% CI 1.4 to 13.5) were significantly associated with vancomycin-induced AKI in our NICU. CONCLUSION: Vancomycin dosing in neonates according to the NeoFax did not provide sufficient attainment of target trough levels (10-20 mg/L). However, using the higher dosing range at 15 mg/kg/dose was more likely to reach target levels, with no measured increased risk of nephrotoxicity. Extreme premature neonates, supratherapeutic vancomycin trough levels, hypotension and furosemide use are associated with an increased incidence of vancomycin-induced nephrotoxicity.

Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review.

ARC syndrome, the association of arthrogryposis, renal tubular dysfunction and cholestasis, is a rare genetic disorder. We report two Saudi infants from two different families with ARC syndrome. Magnetic resonance imaging of the brain of one of the infants showed lissencephaly, a previously unreported finding in this syndrome. We also review 39 ARC cases reported in the literature using the Medline database from January 1966 to September 2004.