Clinical Features and Predictors of Mortality in Patients With Acute Pulmonary Embolism: A Retrospective Study From Southern Saudi Arabia.

BACKGROUND AND METHODOLOGY: We aimed to investigate the clinical characteristics, outcomes, and mortality predictors in patients with acute pulmonary embolism (PE). Adult patients who were admitted to the Armed Forces Hospital Southern Region, Khamis Mushait, a large tertiary hospital in Southern Saudi Arabia, with the diagnosis of acute PE were retrospectively examined for the predictors of one-year mortality. RESULTS: The overall in-hospital mortality was 15.6% among 212 patients. In univariate analysis, only age was significantly associated with increased early mortality, whereas age, obesity, presence of active malignancy, hypertension, use of thrombolytics, and Simplified Pulmonary Embolism Severity Index (sPESI) were significantly associated with increased late mortality. By use of binary logistic regression, the presence of obesity (HR 6.010, 95%CI 0.048-16.853, p=0.030), active malignancy (HR 3.040, 95%CI 1.147-8.059, p=0.025), and the use of thrombolytics (HR 8.074, 95%CI 2.719-23.977, p<0.001), were independently significant factors for late (overall) mortality, respectively. CONCLUSIONS: Among Saudi Arabian patients in the Southern Region, our data show that age is an independent factor for increased early and late mortality. The presence of obesity, active malignancy, and the use of thrombolytics, were independently significant factors for increased late (one-year) mortality. These factors should be taken into account for risk stratification and decisions on tailored management of patients with PE. Further prospective multicenter studies are needed.

Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia.

BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) represent a heterogeneous group of inherited metabolic lysosomal disorders characterized by neurodegeneration. This study sought to describe the clinical and molecular characteristics of NCLs in Saudi Arabia and determine the most common types in that population. METHODS: A retrospective review of electronic medical records was conducted for 63 patients with NCL (55 families) from six tertiary and referral centers in Saudi Arabia between 2008 and 2022. Clinical, radiological, and neurophysiological data as well as genetic diagnoses were reviewed. RESULTS: CLN6 was the predominant type, accounting for 45% of cases in 25 families. The most common initial symptoms were speech delay (53%), cognitive decline (50%) and/or gait abnormalities (48%), and seizure (40%). Behavioral symptomatology was observed in 20%, whereas visual impairment was less frequently (9.3%) encountered. Diffuse cerebral and cerebellar atrophy was the predominant finding on brain magnetic resonance imaging. Electroencephalography generally revealed background slowing in all patients with generalized epileptiform discharges in 60%. The most common genotype detected was the p.Ser265del variant found in 36% (20 of 55 families). The most rapidly progressive subtypes were CLN2 and CLN6. Two patients with each died at age five years. The earliest age at which a patient was nonambulatory was two years in a patient with CLN14. CONCLUSIONS: This is the largest molecularly confirmed NCL cohort study from Saudi Arabia. Characterizing the natural history of specific NLC types can increase understanding of the underlying pathophysiology and distinctive genotype-phenotype characteristics, facilitating early diagnosis and treatment initiation as well as genetic counseling for families.

Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.

MAD2L1BP-encoded p31comet mediates Trip13-dependent disassembly of Mad2- and Rev7-containing complexes and, through this antagonism, promotes timely spindle assembly checkpoint (SAC) silencing, faithful chromosome segregation, insulin signaling, and homology-directed repair (HDR) of DNA double-strand breaks. We identified a homozygous MAD2L1BP nonsense variant, R253*, in 2 siblings with microcephaly, epileptic encephalopathy, and juvenile granulosa cell tumors of ovary and testis. Patient-derived cells exhibited high-grade mosaic variegated aneuploidy, slowed-down proliferation, and instability of truncated p31comet mRNA and protein. Corresponding recombinant p31comet was defective in Trip13, Mad2, and Rev7 binding and unable to support SAC silencing or HDR. Furthermore, C-terminal truncation abrogated an identified interaction of p31comet with tp53. Another homozygous truncation, R227*, detected in an early-deceased patient with low-level aneuploidy, severe epileptic encephalopathy, and frequent blood glucose elevations, likely corresponds to complete loss of function, as in Mad2l1bp-/- mice. Thus, human mutations of p31comet are linked to aneuploidy and tumor predisposition.

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier EZH1 as the cause of dominant and recessive neurodevelopmental disorders in 19 individuals. EZH1 encodes one of the two alternative histone H3 lysine 27 methyltransferases of the PRC2 complex. Unlike the other PRC2 subunits, which are involved in cancers and developmental syndromes, the implication of EZH1 in human development and disease is largely unknown. Using cellular and biochemical studies, we demonstrate that recessive variants impair EZH1 expression causing loss of function effects, while dominant variants are missense mutations that affect evolutionarily conserved aminoacids, likely impacting EZH1 structure or function. Accordingly, we found increased methyltransferase activity leading to gain of function of two EZH1 missense variants. Furthermore, we show that EZH1 is necessary and sufficient for differentiation of neural progenitor cells in the developing chick embryo neural tube. Finally, using human pluripotent stem cell-derived neural cultures and forebrain organoids, we demonstrate that EZH1 variants perturb cortical neuron differentiation. Overall, our work reveals a critical role of EZH1 in neurogenesis regulation and provides molecular diagnosis for previously undefined neurodevelopmental disorders.

Cone-beam computed tomographic analysis of maxillary sinus septa among Yemeni population: a cross-sectional study.

BACKGROUND: Maxillary sinus septa increase perforation risk of Schneiderian membrane during the sinus floor elevation (SFE). Cone Beam Computed Tomography (CBCT) allows for a more precise assessment of the septal position; thus, preoperative CBCT analysis is substantial to avoid possible complications. This study aims to investigate the 3D characteristics of the maxillary sinus septa based on CBCT images. To our knowledge, no study reported the CBCT-based investigation for the sinus septa among Yemeni population. MATERIALS AND METHODS: This is a retrospective cross-sectional analysis of 880 sinus CBCT images 440 patients. The septa prevalence, locations, orientations, morphology, and associated factors were analyzed. The effect of age, gender, and dental status on the sinus septa and the relationship between sinus membrane pathology and sinus septa were also analyzed. Anatomage (Invivo version 6) was used for CBCT images analysis. Descriptive and analytical statistics were performed, and a P-value < 0.05 was significantly considered. RESULTS: The maxillary sinus septa were found among 63.9% of patients and 47% of sinuses. The average septa height was 5.2 mm. 15.7% of patients had septa in the right maxilla, 18% in the left, and 30.2% in both. Gender, age, and dental condition had no influence on the presence of septa, and septa presence did not influence sinus membrane pathology. Many septa originated from the floor (54.5%), located in the middle (43%), with coronal orientation (66%) and complete configuration (58.2%). CONCLUSION: Based on our findings, the septa prevalence, locations, orientations, and morphology were significant and equivalent to the highest recorded in the literature yet. Thus, when sinus floor elevation is planned, CBCT imaging of the maxillary sinus is recommended for safe dental implantation.

Assessment of quality of life in patients treated for orbital fractures.

PURPOSE: This study aimed to assess the quality of life (QOL), before and after surgery, of patients who underwent open reduction and internal fixation for orbital fractures. STUDY DESIGN: A prospective study. PARTICIPANTS AND SETTING: The self-report outcome measures of 50 patients treated at the Department of Oral and Maxillofacial Surgery of the Second Affiliated Hospital of Jiamusi University from January 2016 to June 2019 were prospectively collected. MAIN MEASURES: The quality of life was assessed using four patient-reported outcome measures (PROMs): the 15D questionnaire, Oral Health Impact Profile-14 (OHIP-14), Hospital Anxiety and Depression Scale (HADS), and 36-item Short Form Survey (SF-36). Both descriptive and comparative data analyses were calculated. RESULTS: Zygomaticomaxillary complex fractures were the most encountered (40.3%). The total OHIP-14 scores before and after treatment were 1.72 and 1.68, respectively. Vision, breathing, sleeping, eating, usual activities, discomfort and symptoms, and vitality showed minimal changes in the 15D questionnaire. The HADS scores were ranged from 0 to 7, indicating no anxiety or depression. The comparison of SF-36 scores after 3 months and after ≥6 months of treatment revealed no significant difference. CONCLUSIONS: Patients' QOL was minimally impacted by orbital fractures and their treatments. The severity of the negative impact can be minimized if appropriate management strategies are taken.

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.

PURPOSE: Pathogenic variants in genes encoding ubiquitin E3 ligases are known to cause neurodevelopmental syndromes. Additional neurodevelopmental disorders associated with the other genes encoding E3 ligases are yet to be identified. METHODS: Chromosomal analysis and exome sequencing were used to identify the genetic causes in 10 patients from 7 unrelated families with syndromic neurodevelopmental, seizure, and movement disorders and neurobehavioral phenotypes. RESULTS: In total, 4 patients were found to have 3 different homozygous loss-of-function (LoF) variants, and 3 patients had 4 compound heterozygous missense variants in the candidate E3 ligase gene, HECTD4, that were rare, absent from controls as homozygous, and predicted to be deleterious in silico. In 3 patients from 2 families with Angelman-like syndrome, paralog-directed candidate gene approach detected 2 LoF variants in the other candidate E3 ligase gene, UBE3C, a paralog of the Angelman syndrome E3 ligase gene, UBE3A. The RNA studies in 4 patients with LoF variants in HECTD4 and UBE3C provided evidence for the LoF effect. CONCLUSION: HECTD4 and UBE3C are novel biallelic rare disease genes, expand the association of the other HECT E3 ligase group with neurodevelopmental syndromes, and could explain some of the missing heritability in patients with a suggestive clinical diagnosis of Angelman syndrome.

Asymptomatic bacteriuria in candidates for active treatment of renal stones: results from an international multicentric study on more than 2600 patients.

The occurrence of asymptomatic bacteriuria concomitant to urolithiasis is an issue for patients undergoing renal stone treatment. Disposing of a preoperative urine culture is essential to reduce the risk of septic events. The endpoint of the study is to report which characteristics of candidates for renal stone treatment are frequently associated with positive urine culture. 2605 patients were retrospectively enrolled from 14 centers; inclusion criteria were age > 18 and presence of a single renal stone 1-2 cm in size. The variables collected included age, gender, previous renal surgery, comorbidities, skin-to-stone distance, stone size, location, density, presence of hydronephrosis. After a descriptive analysis, the association between continuous and categorical variables and the presence of positive urine culture was assessed using a logistic regression model. Overall, 240/2605 patients (9%) had preoperative bacteriuria. Positive urine culture was more frequent in females, patients with previous renal interventions, chronic kidney disease, congenital anomalies, larger stones, increased density. Multivariate analysis demonstrated that previous renal interventions (OR 2.6; 95% CI 1.9-3.4; p < 0.001), renal-related comorbidities (OR 1.31; 95% CI 1.19-1.4; p < 0.001), higher stone size (OR 1.06; 95% CI 1.02-1.1; p = 0.01) and density (OR 1.00; 95% CI 1.0-1.00; p = 0.02) were associated with bacteriuria; male gender and lower caliceal location were inversely related to it. Beyond expected risk factors, such as female gender, other parameters are seemingly favoring the presence of positive urine culture. The awareness of variables associated with bacteriuria allows to assess which individuals are at increased risk of presenting bacteriuria and reduce the rate of septic complications.

Molecular characterization and phylogenetic analysis of parasitic copepoda; Ergasilus sieboldi isolated from cultured gilthead sea bream (Sparus aurata) in Egypt, associated with analysis of oxidative stress biomarkers.

Parasitic copepods are common damaging ectoparasites of cultured marine fish that induce high mortalities in fish farms. The present study aimed to identify the cause of mass mortalities of cultured gilthead sea bream (Sparus aurata) as one of the highly valuable cultured marine fish species in Egypt. Parasitological examination demonstrated Ergasilus sieboldin (E. sieboldi) adult females of (1.3 ± 0.01 mm, n = 55) mean body length and (0.53 ± 0.04 mm) body width, lodged in the gill filaments of the forty examined fish with a pair of strong clawed antennae. The detected parasite has six segmented antennules and consists of cephalosome followed by four divided thoracic segments that narrow posteriorly, five pairs of swimming legs, genital segment, abdominal segments followed by furcal rami with unequal caudal setae and two egg sacs at the end of the body. The collected E. sieboldi were confirmed by molecular characterization and phylogenetic analysis based on 28S rDNA sequencing. The obtained sequence in this study was registered in the GenBank with (OM812074) accession number as a first sequence of E. sieboldi from Egypt. Oxidative stress biomarkers in the gills of the parasitized fish were evaluated to describe the host defense mechanisms against E. sieboldi infestation. The current study demonstrated decreasing in reduced glutathione (GSH) content and activity of the anti-oxidant enzyme catalase (CAT), as well as elevation in the level of malondialdehyde (MDA) due to exposure to oxidative damage that might have a role in the tissue damage and dysfunction.

Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.

Pathogenic variants in GEMIN4 have recently been linked to an inherited autosomal recessive neurodevelopmental disorder characterized with microcephaly, cataracts, and renal abnormalities (NEDMCR syndrome). This report provides a retrospective review of 16 patients from 11 unrelated Saudi consanguineous families with GEMIN4 mutations. The cohort comprises 11 new and unpublished clinical details from five previously described patients. Only two missense, homozygous, pathogenic variants were found in all affected patients, suggesting a founder effect. All patients shared global developmental delay with variable ophthalmological, renal, and skeletal manifestations. In addition, we knocked down endogenous Drosophila GEMIN4 in neurons to further investigate the mechanism of the functional defects in affected patients. Our fly model findings demonstrated developmental defects and motor dysfunction suggesting that loss of GEMIN4 function is detrimental in vivo; likely similar to human patients. To date, this study presents the largest cohort of patients affected with GEMIN4 mutations. Considering that identifying GEMIN4 defects in patients presenting with neurodevelopmental delay and congenital cataract will help in early diagnosis, appropriate management and prevention plans that can be made for affected families.

Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.

The eukaryotic CDC45/MCM2-7/GINS (CMG) helicase unwinds the DNA double helix during DNA replication. The GINS subcomplex is required for helicase activity and is, therefore, essential for DNA replication and cell viability. Here, we report the identification of 7 individuals from 5 unrelated families presenting with a Meier-Gorlin syndrome-like (MGS-like) phenotype associated with hypomorphic variants of GINS3, a gene not previously associated with this syndrome. We found that MGS-associated GINS3 variants affecting aspartic acid 24 (D24) compromised cell proliferation and caused accumulation of cells in S phase. These variants shortened the protein half-life, altered key protein interactions at the replisome, and negatively influenced DNA replication fork progression. Yeast expressing MGS-associated variants of PSF3 (the yeast GINS3 ortholog) also displayed impaired growth, S phase progression defects, and decreased Psf3 protein stability. We further showed that mouse embryos homozygous for a D24 variant presented intrauterine growth retardation and did not survive to birth, and that fibroblasts derived from these embryos displayed accelerated cellular senescence. Taken together, our findings implicate GINS3 in the pathogenesis of MGS and support the notion that hypomorphic variants identified in this gene impaired cell and organismal growth by compromising DNA replication.

Incidence and Outcome of Acute Kidney Injury in Patients Hospitalized With Coronavirus Disease-19 at a Tertiary Care Medical Center in Saudi Arabia.

Introduction The systemic acute respiratory syndrome coronavirus (SARS-CoV-2) has been associated with acute kidney injury (AKI). We retrospectively studied the incidence and outcome of AKI in patients hospitalized with COVID-19 at King Abdulaziz Medical City (KAMC) Riyadh, Kingdom of Saudi Arabia. Methods A retrospective cohort study was conducted after ethical approval from the institutional review board of King Abdullah International Medical Research Center (KAIMRC). Subjects were identified by Data Management Office of KAIMRC. The data were extracted from electronic medical records using a customized data collection sheet. The study included all adult patients (>18 years) who tested positive for COVID-19 by polymerase chain reaction and were admitted at KAMC from March 2020 until the end of September 2020. Patients with a history of end-stage kidney diseases and patients where adequate data were not available to establish diagnosis of AKI were excluded. Patient demographics, comorbid conditions, medications, use of mechanical ventilation, and 30-day mortality were recorded. Results During the study period (01 March 2020 to 30 September 2020) 1293 patients were hospitalized at KAMC with the diagnosis of COVID-19. After excluding the patients who met the exclusion criteria, data were collected for 1025 patients [male 582 (56.8%); female 443 (43.2%)]. On univariate analysis, increasing age, male gender, use of angiotensin-converting enzyme inhibitors, angiotensin receptor blockers, diuretics, and vasopressors, presence of chronic kidney disease, coronary artery disease, chronic obstructive pulmonary disease, dyslipidemia, diabetes mellitus, heart failure, and hypertension, kidney transplant status, and mechanical ventilation were associated with development of AKI. On multivariate logistic regression analysis, independent predictors of AKI were restricted to increasing age, presence of chronic kidney disease, hypertension, kidney transplant status, use of vasopressors, and mechanical ventilation. For patients who developed AKI, 30-day mortality was 40.7% compared to 3.7% for those who did not develop AKI (p<0.001). Conclusion For hospitalized patients with COVID-19, we observed an incidence of AKI of 36%. Increasing age, presence of chronic kidney disease and hypertension, kidney transplant status, use of vasopressors, and mechanical ventilation were independently associated with development of AKI. Presence of AKI was associated with higher 30-day mortality (40.7% vs 3.7%).

Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.

Heterozygous pathogenic variants in SLC12A2 are reported in patients with nonsyndromic hearing loss. Recently, homozygous loss-of-function variants have been reported in two patients with syndromic intellectual disability, with or without hearing loss. However, the clinical and molecular spectrum of SLC12A2 disease has yet to be characterized and confirmed. Using whole-exome sequencing, we detected a homozygous splicing variant in four patients from two independent families with severe developmental delay, microcephaly, respiratory abnormalities, and subtle dysmorphic features, with or without congenital hearing loss. We also reviewed the reported cases with pathogenic variants associated with autosomal dominant and recessive forms of the SLC12A2 disease. About 50% of the cases have syndromic and nonsyndromic congenital hearing loss. All patients harboring the recessive forms of the disease presented with severe global developmental delay. Interestingly, all reported variants are located in the c-terminal domain, suggesting a critical role of this domain for the proper function of the encoded co-transporter protein. In conclusion, our study provides an additional confirmation of the autosomal recessive SLC12A2 disease.

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.

A hallmark of neurodegeneration is defective protein quality control. The E3 ligase Listerin (LTN1/Ltn1) acts in a specialized protein quality control pathway-Ribosome-associated Quality Control (RQC)-by mediating proteolytic targeting of incomplete polypeptides produced by ribosome stalling, and Ltn1 mutation leads to neurodegeneration in mice. Whether neurodegeneration results from defective RQC and whether defective RQC contributes to human disease have remained unknown. Here we show that three independently-generated mouse models with mutations in a different component of the RQC complex, NEMF/Rqc2, develop progressive motor neuron degeneration. Equivalent mutations in yeast Rqc2 selectively interfere with its ability to modify aberrant translation products with C-terminal tails which assist with RQC-mediated protein degradation, suggesting a pathomechanism. Finally, we identify NEMF mutations expected to interfere with function in patients from seven families presenting juvenile neuromuscular disease. These uncover NEMF's role in translational homeostasis in the nervous system and implicate RQC dysfunction in causing neurodegeneration.

Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.

PURPOSE: Asparagine synthetase deficiency (ASNSD) is a rare neurometabolic disease. Patients may not demonstrate low asparagine levels, which highlights the advantage of molecular over biochemical testing in the initial work-up of ASNSD. We aimed to further delineate the ASNSD variant and phenotypic spectrum and determine the value of biochemical testing as a frontline investigation in ASNSD. METHODS: We retrospectively collected the clinical and molecular information on 13 families with ASNSD from the major metabolic clinics in Saudi Arabia. RESULTS: The major phenotypes included congenital microcephaly (100%), facial dysmorphism (100%), global developmental delay (100%), brain abnormalities (100%), spasticity (86%), and infantile-onset seizures (93%). Additional unreported phenotypes included umbilical hernia, osteopenia, eczema, lung hypoplasia, and hearing loss. Overall, seven homozygous variants accounted for ASNSD. The p.Tyr398Cys and p.Asn75Ile variants accounted for 54% of the cases. The clinical sensitivity and specificity of the proposed biochemical analysis of cerebrospinal fluid (CSF) for the detection of patients with ASNSD were 83% and 98%, respectively. CONCLUSION: Our study describes the largest reported ASNSD cohort with clinical, molecular, and biochemical characterization. Taking into consideration the suboptimal sensitivity of biochemical screening, the delineation of the phenotype variant spectrum is of diagnostic utility for accurate diagnosis, prognosis, counseling, and carrier screening.

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families presenting with epileptic encephalopathy with developmental delay and hypotonia. UGDH encodes an oxidoreductase that converts UDP-glucose to UDP-glucuronic acid, a key component of specific proteoglycans and glycolipids. Consistent with being loss-of-function alleles, we show using patients' primary fibroblasts and biochemical assays, that these mutations either impair UGDH stability, oligomerization, or enzymatic activity. In vitro, patient-derived cerebral organoids are smaller with a reduced number of proliferating neuronal progenitors while mutant ugdh zebrafish do not phenocopy the human disease. Our study defines UGDH as a key player for the production of extracellular matrix components that are essential for human brain development. Based on the incidence of variants observed, UGDH mutations are likely to be a frequent cause of recessive epileptic encephalopathy.

Effect of parity on metabolic and oxidative stress profiles in Holstein dairy cows.

BACKGROUND AND AIM: Pregnancy and lactation have an impact on health status of animals and constitute burden on body metabolites and the oxidant-antioxidant equilibrium. This study is aimed at evaluating metabolic and oxidative stress patterns and parity impacts in both primiparous and multiparous dairy cows. MATERIALS AND METHODS: Twenty-seven primiparous and multiparous. Holstein cows were enrolled and categorized into four groups according to their physiologic status: Primiparous peripartum heifer (n=5), primiparous postpartum cow (n=9), multiparous peripartum cows (n=5), and multiparous postpartum cows (n=8). Blood sample was taken from each animal - peripartum groups at 3 weeks prepartum and postpartum groups at 3 weeks post-parturition - for complete blood picture, glucose, cholesterol, triglyceride, total protein, albumin, non-esterified fatty acids (NEFA), malondialdehyde (MDA), total antioxidant capacity, and haptoglobin estimation. RESULTS: Postpartum primiparous cows showed significant decrease in glucose, total protein, and albumin while showing significant increase in MDA, NEFA, and globulin; on the other hand, multiparous postpartum cows showed significant decrease in glucose, total protein, and albumin, associated with significant increase in cholesterol and MDA when compared with prepartum PP and MP cows, respectively. Postpartum multiparous cows significantly showed reduction in NEFA when compared to primiparous postpartum cows. Hematologic profiles of postpartum primiparous and multiparous cows showed significant decrease in red blood cells and packed cell volume, significant increase in lymphocytes when compared with prepartum cows. CONCLUSION: Metabolic and oxidative abnormalities exist in both primiparous and multiparous cows during the transition phase, however postpartum primiparous cows show higher susceptibility to negative energy balance impacts. Oxidant/antioxidant imbalance occurred in both the primiparous and multiparous postpartum cows, highlighting the importance of oxidative stress profiles in the assessment of metabolic health status during transition.

Use of extubation bundle including modified spontaneous breathing trial (SBT) to reduce the rate of reintubation, among preterm neonates ≤ 30 weeks.

BACKGROUND: Respiratory support in the form of mechanical ventilation is a crucial intervention in premature neonates, with respiratory problems. However, prolonged mechanical ventilation and endotracheal intubation may be associated with major adverse effects. The ideal time for extubation is based on clinical and laboratory parameters assessed at the time of planned extubation. However, such parameters are not very objective, which makes extubation in NICUs a trial-and-error approach. OBJECTIVE: This work was done to assess the use of extubation bundle including modified spontaneous breathing trial (SBT) (10 minutes) to reduce the rate of reintubation, among preterm neonates≤30 weeks who were mechanically ventilated and extubated to non-invasive ventilation in the NICU, Women's Wellness and Research Center (WWRC), Hamad Medical Corporation (HMC), Doha, Qatar. METHODS: A prospective study based on the collection of data regarding preterm neonates≤30 weeks gestation admitted to the NICU, Women's Wellness and Research Center (WWRC), from January, 2015 to December, 2017, who were subjected to mechanical ventilation (MV) and extubation. When the clinical team decides a newborn is ready for extubation based on the extubation bundle, a modified SBT (10 min) is used. RESULTS: This study included 465 premature babies from 24-≤30 weeks recruited in the NICU, Women's Wellness and Research Center (WWRC). Extubation bundle with modified SBT was able to predict success of extubation with 95% sensitivity and 90.4% Positive Predictive Value (PPV) in the gestational age (GA) group 24 -≤27 weeks (245) and 95.3% sensitivity and 90% PPV in the GA group > 27 -≤30 weeks (220). As expected, successfully extubated babies had a higher GA and weighed more at extubation, compared to babies who required re-intubation. CONCLUSION: We recommend the extubation bundle with modified SBT prior to elective extubation to be used in predicting successful extubation in premature babies. Guidelines for extubation among premature babies are needed in order to reduce unnecessary exposure to adverse effects of mechanical ventilation.