Identification of Extremely Rare Pathogenic CNVs by Array CGH in Saudi Children with Developmental Delay, Congenital Malformations, and Intellectual Disability.

Chromosomal imbalance is implicated in developmental delay (DD), congenital malformations (CM), and intellectual disability (ID), and, thus, precise identification of copy number variations (CNVs) is essential. We therefore aimed to investigate the genetic heterogeneity in Saudi children with DD/CM/ID. High-resolution array comparative genomic hybridization (array CGH) was used to detect disease-associated CNVs in 63 patients. Quantitative PCR was done to confirm the detected CNVs. Giemsa banding-based karyotyping was also performed. Array CGH identified chromosomal abnormalities in 24 patients; distinct pathogenic and/or variants of uncertain significance CNVs were found in 19 patients, and aneuploidy was found in 5 patients including 47,XXY (n = 2), 45,X (n = 2) and a patient with trisomy 18 who carried a balanced Robertsonian translocation. CNVs including 9p24p13, 16p13p11, 18p11 had gains/duplications and CNVs, including 3p23p14, 10q26, 11p15, 11q24q25, 13q21.1q32.1, 16p13.3p11.2, and 20q11.1q13.2, had losses/deletions only, while CNVs including 8q24, 11q12, 15q25q26, 16q21q23, and 22q11q13 were found with both gains or losses in different individuals. In contrast, standard karyotyping detected chromosomal abnormalities in ten patients. The diagnosis rate of array CGH (28%, 18/63 patients) was around two-fold higher than that of conventional karyotyping (15.87%, 10/63 patients). We herein report, for the first time, the extremely rare pathogenic CNVs in Saudi children with DD/CM/ID. The reported prevalence of CNVs in Saudi Arabia adds value to clinical cytogenetics.

Efficacy and Safety of Palivizumab as a Prophylaxis for Respiratory Syncytial Virus (RSV) Disease: An Updated Systemic Review and Meta-Analysis.

This systematic review and meta-analysis aimed to summarize the current evidence regarding the efficacy and safety of palivizumab as a prophylaxis for respiratory syncytial virus (RSV) disease. We searched MEDLINE via PubMed, Scopus, Cochrane, Web of Science, Embase, and Science Direct from inception till November 2023. Studies that assessed the efficacy and safety of palivizumab in infants aged between 28 days and three months of age were included. We analyzed the data using Review Manager 5.4 software, with results pooled across studies and expressed as risk ratios (RR) with 95% confidence intervals (CI). A total of 10 studies were included. The effect estimates favored palivizumab over placebo regarding the hospitalization for RSV infection (RR=0.51, 95% CI: 0.40 to 0.65; P<0.00001) and ICU admission (RR=0.49, 95% CI: 0.30 to 0.81; P=0.005). On the other hand, the effect estimate showed no significant difference between palivizumab and placebo regarding all-cause mortality (RR=0.69, 95% CI: 0.42 to 1.15; P=0.16), lower respiratory tract infection (RR=0.42, 95% CI: 0.11 to 1.69; P=0.22), and need for mechanical ventilation (RR=0.75, 95% CI: 0.34 to 1.67; P=0.48). Palivizumab can be considered a prophylaxis for RSV disease in young children as it is safe, well-tolerated, and effective in reducing RSV hospitalizations. However, further research through high-quality randomized controlled trials is required to determine its efficacy as a therapeutic agent for established RSV infections.

Ischemic Priapism Progressing to Penile Gangrene in a Patient with COVID-19 Infection: A Case Report with Literature Review.

Priapism is considered a rare disorder and even more rare when it occurs as a complication of COVID-19. To the best of our knowledge, only eight studies have reported priapism as a complication of COVID-19. Here, we report the case of a 66-year-old male with COVID-19 who presented with neglected priapism for three days. On local examination, penile erection was apparent in association with blackened areas on the glans penis extending to the midpenile shaft denoting penile gangrene. A clear line of demarcation was noticed at the midpenile shaft. Penile duplex was performed, showing no blood flow in both cavernosal arteries. Penile aspiration was performed, and the cavernosal blood sample showed evidence of ischemic priapism. Given the presence of penile gangrene extending to the midshaft of the penis and the poor general condition of the patient, the decision was made to perform partial penectomy and suprapubic tube placement. We recommend the establishment of a guideline for the diagnosis and prevention of thrombotic diseases in patients with COVID-19 infection as there is increasing evidence of COVID-19-related thrombotic manifestations.

The Prevalence and Trends of the Early Introduction of Cow Milk to Newborns at Tertiary Care Center: A Risk of Atopy.

Although all health organizations recommend exclusive breastfeeding (EBF), few neonates meet these recommended goals. The early intake of cow milk formulas (CMFs) has been linked to several childhood illnesses, including atopic diseases. Therefore, this study aimed to evaluate the prevalence of early exposure to CMFs in the nursery of a tertiary care hospital in Jeddah, Kingdom of Saudi Arabia. A retrospective review was conducted on the medical records of feeding practices of neonates born in King Abdulaziz University Hospital (KAUH) at Jeddah, Kingdom of Saudi Arabia. Two months from each year (May and December) were selected over the last five years. Approval from the ethical research committee at KAUH was obtained. Eight hundred and ninety-four different neonate files were reviewed. Four hundred and eighty-seven (54.5%) were males. Out of the total of 894, 838 (93.7%) newborns experienced an early introduction to CMFs, 797 (89.1%) received mixed CMF and breast milk, 41 (4.6%) received CMF only, and 56 (6.3%) received exclusive breastfeeding (EBF). Surprisingly, EBF has declined over time, from 39% in May 2016 to 1% in December 2020. The prevalence of early exposure to CMF was very high in newborns at KAUH nursery, and this prevalence was trending upwards. Extensive teaching programs on EBF and allergy prevention for mothers and related health care providers are highly recommended.

Complications After Surgical Repair of Congenital Heart Disease in Infants. An Experience From Tertiary Care Center.

OBJECTIVES: This study aimed to describe the incidence and spectrum of postoperative complications in infants who underwent their first cardiac surgery for the repair of congenital heart diseases. METHODS: This is a single-center retrospective study. Data of infants admitted to King Faisal Specialist Hospital & Research Center; Jeddah; Saudi Arabia, from January 2015 to December 2019 who underwent the first cardiac procedure for congenital heart disease at an age of less than 3 months, were analyzed. The primary outcome is the prevalence and spectrum of postoperative complications during hospitalization. Data were analyzed by using descriptive and analytical statistics using SAS software version 9.4. RESULTS: Data of 130 procedures were analyzed. The most frequent procedure performed was the Norwood procedure (31.5%), aortic coarctation repair (13.8%), arterial switch operation (13%), and Blalock-Taussig and central shunts (10%). The overall postprocedural complications were reported in 96 (73.8%) of the procedures. The most frequent complications were prolonged postoperative mechanical ventilation (27%), pleural effusion (21%), excessive bleeding (19%), cardiac arrest (18%), and systemic infections (18%). CONCLUSION: Cardiac surgery for congenital heart disease in young infants has a substantial risk for postoperative complications. The high incidence of these complications in these cases makes necessary attention to prove the outcomes in the cardiac centers.

Associations of adiposity and parental diabetes with prediabetes among adolescents in Kuwait: A cross-sectional study.

BACKGROUND: Prediabetes, a high-risk state for developing diabetes, has become more prevalent among children and adolescents in recent decades. This study sought to estimate the prevalence of prediabetes and assess its association with adiposity among adolescents in Kuwait. Also, to determine whether maternal and paternal history of diabetes associate with offspring prediabetes in a sex-specific manner. METHODS: A cross-sectional study was conducted by enrolling students (n = 1959; aged 14-19 years) attending high schools across Kuwait. Body mass index-for-age z-scores were estimated using the World Health Organization growth reference. Glycated hemoglobin A1c (HbA1c) was measured in capillary blood using point-of-care testing. Prediabetes was defined according to the diagnostic criteria of the American Diabetes Association (ADA; 5.7 ≤ HbA1c% ≤ 6.4) and the International Expert Committee (IEC; 6.0 ≤ HbA1c% ≤ 6.4). Adjusted prevalence ratios (aPR) and 95% confidence intervals (CI) were estimated using Poisson regression with robust variance estimation. RESULTS: According to the ADA criteria, 33.3% (620/1845) of participants had prediabetes; whereas, 8.5% (157/1845) met the IEC definition for prediabetes. Subjects classified as obese had higher prevalence of prediabetes compared to children in the thinness/normal group (aPR = 1.68, 95% CI: 1.44-1.95). Analysis stratified by offspring sex showed that maternal history of diabetes is associated with prediabetes among male offspring (aPR = 1.29, 95% CI: 1.02-1.63). In contrast, paternal history of diabetes showed an association with prediabetes among female offspring (aPR = 1.22, 95% CI: 1.01-1.48). CONCLUSIONS: Prediabetes affects a substantial proportion of adolescents in Kuwait and adiposity and parental diabetes being the main associated factors with prediabetes.

Incidence, risk factors, and outcome of neonatal acute kidney injury: a prospective cohort study.

BACKGROUND: Acute kidney injury (AKI) is common in neonates admitted to the neonatal intensive care unit (NICU). AKI is associated with increased morbidity and mortality and a greater long-term risk of chronic kidney disease. OBJECTIVES: To study the incidence and outcome of neonatal AKI in a single Saudi Arabian center, level 2\3 NICU. METHODS: This single-center prospective cohort study included all infants who received level II or III NICU care during 2015 (January to December). We excluded infants who survived less than 48 h after admission, had evidence of congenital renal anomalies, or had insufficient data. AKI was defined according to the Kidney Disease: Improving Global Outcomes (KDIGO) criteria. Both AKI and non-AKI neonates were prospectively followed up until NICU discharge. Outcomes studied included mortality and length of NICU stay. The results of adjusted risk analyses were expressed as relative risk (RR) with 95% confidence interval (95% CI). RESULTS: The incidence of AKI (modified neonatal KDIGO stages) was 56% (120/214 patients). Compared with neonates without AKI, those with AKI had a lower birth weight (2202 ± 816 vs. 1570 ± 776 g; p < 0.001) and a lower gestational age (35 ± 3 vs. 32 ± 4 weeks; p < 0.001). After adjustment for potential confounders, only gestational age (RR, 4.8; 95% CI, 3-9) and perinatal depression (RR, 10; 95% CI, 2-46) were significantly associated with an increased risk of AKI. For infants with gestational age < 32 weeks, only the Clinical Risk Index for Babies (CRIB II) score was associated with an increased risk of AKI (RR, 1.9; 95% CI, 1-3). After adjustment for gestational age, AKI was significantly associated with mortality (RR, 5.4; 95% CI, 2-14), but not with the length of hospital stay (LOS) (p = 0.133). However, the AKI group had a significantly longer LOS (mean difference: 14 days; 95% CI, 5.5-23 days), and 33 patients (27.5%) with AKI were discharged with abnormally high serum creatinine levels (> 65 µmol/L). CONCLUSION: AKI occurred in more than half of all NICU admissions, was associated with an increased risk of mortality, and had a higher incidence among smaller and sicker infants. Therefore, close monitoring of renal function during hospitalization and after discharge is warranted in such infants.

Transcutaneous Bilirubin Measurements Can Be Used to Measure Bilirubin Levels during Phototherapy.

OBJECTIVE: To determine whether transcutaneous bilirubin measurements (TcB) before and during phototherapy taken from covered skin during phototherapy correlate with total serum bilirubin (TSB) levels. STUDY DESIGN: In this prospective observational study, healthy term newborns who required TSB measurements were included. TcB measurements were taken from the forehead before starting and during phototherapy using the BiliChek device. Before starting phototherapy, part of the forehead was covered. Blood for TSB measurement was collected within 5 minutes of TcB measurements. Correlations and mean differences between TcB and TSB before and during phototherapy were calculated. RESULT: Paired TSB and TcB measurements before and during phototherapy in 151 newborns were performed. The mean gestational age was 38.8 weeks and birth weight was 3.1 kg; 53% were male. Before starting phototherapy, TSB and TcB were 183.8 ± 41.6 and 190.5 ± 43 µmol/l, respectively. During phototherapy, TSB and TcB were 191.8 ± 39.4 and 187.8 ± 45.3 µmol/l, respectively. Linear regression analysis showed a significant correlation between TcB and TSB before starting phototherapy and during phototherapy (r: 0.85; p < 0.001 and r: 80.0; p < 0.001), respectively. Before starting phototherapy, the mean difference between TSB and TcB was 6.2 ± 23.2 µmol/l, with a 95% CI of -39.3 to 51.7 µmol. During phototherapy, the mean difference was -2.8 ± 23.5 µmol/l, with a 95% CI of -48.9 to 43.3 µmol/l. CONCLUSION: TcB measurements from covered skin in jaundiced term infants during phototherapy correlate with TSB and can be used to monitor bilirubin levels during phototherapy.

Transcutaneous bilirubin measurement in healthy Saudi term newborns.

[No Abstract Available].

Transcutaneous bilirubin measurement in healthy Saudi term newborns.

OBJECTIVES: To evaluate the accuracy of transcutaneous bilirubin (TcB) measurement in healthy, jaundiced Saudi term newborns. METHODS: This prospective, cohort study was carried out from January 2009 to December 2012 on jaundiced, term infants admitted at the King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia. Paired TcB and total serum bilirubin (TSB) from healthy jaundiced term newborns were obtained. The correlation and the mean difference between the 2 methods were calculated, and Bhutani nomogram for prediction of TSB by TcB was used. Any bilirubin level at low and above the intermediate risk zone was considered significant.  RESULTS: We obtained 665 paired TcB and TSB measurements from 665 newborns. The mean age at bilirubin measurement was 44.2 ± 21 hour. Mean TSB was 147 ± 45 µmol/L, and TcB was 156 ± 50 µmol/L. Linear regression analysis showed a significant correlation between TcB and TSB (r: 0.84; 95% confidence interval [CI] = 0.82-0.86; p less than 0.001). The TcB tends to overestimate TSB. The mean difference between paired TcB and TSB was 17 µmol /L with a 95% CI of 40 ± 77 µmol/L. The TcB was sensitive, but less specific. The TcB sensitivity was 83% and specificity was 71% to predict TSB during the first 72 hours of life for the whole study group. The positive predictive value was 63%, and negative predictive value was 87%.  CONCLUSION: As found in this study, among the jaundiced healthy term Saudi newborns, TcB measurement provided accurate estimates of TSB values. The TcB measurements can be used effectively to screen newborns for significant jaundice.

Femoral-facial syndrome in an infant of a diabetic mother.

Femoral-facial syndrome (FFS) is a very rare multiple congenital anomaly syndrome. The authors describe a case of FFS in a 2-day-old infant of a diabetic mother. The phenotypic features include bilateral symmetrical femoral involvement with completely aplastic right-sided femur, severely hypoplastic left femur and unusual facial dysmorphic features without other skeleton/spinal and genitourinary anomalies. Cases of FFS need to be carefully evaluated because of the similarity between FFS and caudal dysgenesis, a condition frequently related to maternal diabetes and with other syndromes characterised by femoral hypoplasia and associated anomalies, which can pose a diagnostic challenge.

Incidence and outcomes of antenatally detected congenital hydronephrosis.

BACKGROUND AND OBJECTIVES: Antenatally detected urinary tract abnormalities (ADUTA) are increasingly recognized. Our aims were to determine the incidence and outcomes of antenatally diagnosed congenital hydronephrosis in a large cohort. DESIGN AND SETTINGS: We recorded the number of total deliveries over 4 years at King Abdulaziz University Hospital (KAUH) between January 2008 and December 2011 from the number of nursery and neonatal intensive care unit (NICU) admissions. PATIENTS AND METHODS: We reviewed the records of 18 853 deliveries between January 2008 and December 2011 at KAUH, Saudi Arabia. ADUTA were recorded, and their postnatal medical records were reviewed for demographic and radiological data. RESULTS: ADUTA were diagnosed in 327 fetuses (1.7%). The commonest pathology was congenital hydronephrosis (n=313, 95.7%). Cystic renal anomalies were reported in 4 babies (1.2%), and 10 children (3.1%) were reported to have other renal anomalies, including duplex kidneys or a single kidney. A total of 240 babies with congenital hydronephrosis were followed up. Hydronephrosis resolved in 99 children (41.2%) within 2 months of birth. A total of 29 subjects had underlying renal anomalies (12.1%), including vesicoureteral reflux (n=12, 5%), pelvi-ureteric junction obstruction (n=14, 5.8%), and posterior urethral valve (n=3, 1.3%). The best predictor for nonresolving congenital hydronephrosis and underlying anatomical abnormalities was the anteroposterior diameter on the first postnatal scan. A cut-off point of 5 mm was found to be 83% sensitive in predicting nonresolving hydronephrosis, while 7 mm was 88% sensitive and 10 mm was 94% sensitive. CONCLUSIONS: Congenital hydronephrosis is the commonest ADUTA. A large percentage resolved within 2 months of birth, but underlying anatomical abnormalities were found in 12.1%. All babies with antenatally detected hydronephrosis should be examined by ultrasound postnatally but further radiological investigations should only be performed for persistent significant AP dilatation >=10 mm.

Oral sucrose and a pacifier for pain relief during simple procedures in preterm infants: a randomized controlled trial.

BACKGROUND AND OBJECTIVES: Previous randomized trials of the analgesic effects of sucrose, glucose, and a pacifier in term neonates have shown that the pacifier resulted in lower pain scores than glucose or sucrose, but the pacifier with and without sucrose did not differ. The current study was designed to assess the analgesic effect of pharmacologic (sucrose, water) and a non-pharmacologic measures (pacifier) in preterm infants and to find whether there is any synergism between these intervention in relieving pain during painful procedures. PATIENTS AND METHODS: In this double-blind, randomized, controlled study, 36 preterm infants (mean 31 weeks gestational age, range 27 to 36 weeks) were randomly allocated to six different regimens (0.5 mL sterile water with pacifier, 0.5 mL sterile water without pacifier, 0.5 mL sucrose 24% with pacifier, 0.5 mL sucrose 24% without pacifier, pacifier alone and control group) during a stay in intensive care of up to 15 days. Pain scores were measured with the Premature Infant Pain Profile (PIPP), a validated behavioral acute pain scale. RESULTS: Of all the regimens, the lowest pain scores occurred with the use of 24% sucrose solution combined with pacifier. The mean pain score for the combination of sucrose with pacifier was 0.7 as compared to 1.4 for the sterile water with pacifier group (P<.05). CONCLUSION: The synergistic effect of the combination of sucrose and non-nutritive sucking was clinically effective and safe in relieving the pain of simple procedures such as venipuncture or heel stick in preterm and term infants, but further research is needed on these interventions alone and in combination with other behavioral interventions in neonates.

Once daily gentamicin dosing in full term neonates.

OBJECTIVE: There is no uniformity in the current recommendations of dosing regimen of gentamicin for neonates. We conducted this study to compare once-daily dosing regimen to the twice-daily dosing regimen for neonates with birth weight of >/=2500 g during the first 7 days of life. METHODS: Fifty full term infants with birth weight of >/=2500 gm admitted to the neonatal intensive care unit of King Abdul-Aziz University Hospital, Jeddah, Kingdom of Saudi Arabia between November 1999 to October 2000 and received gentamicin at a dose of 2.5 mg/kg every 12 hours (control group) were compared with 50 term infants who received gentamicin at dose of 4 mg/kg every 24 hours during the period of November 2000 until October 2002 (protocol group). Trough and peak serum gentamicin levels (SDL) were measured on all infants. RESULTS: Peak SDL was 8.4 +/- 1.8 mg/ml in the protocol group, compared to 6.7 +/- 2 mg/ml in the control group (p=0.001). Ninety-eight percent (n=49) of the protocol group, compared to 86% (n=43) of the control group, had peak SDL in therapeutic range. Fifty-eight percent (n=29) of infants in the protocol group, compared to 24% (n=12) of infants in the control group, had peak SDL in higher therapeutic range of 8-12 mg/ml. Six percent (n=3) of the protocol infants, compared to 26% (n=13) of the control infants, had trough SDL >2 mg/ml. Six infants (12%) in the protocol group, versus 20 infants (40%) of the control group, required a dosing adjustment. CONCLUSION: Gentamicin dose of 4 mg/kg given at 24-hour interval achieved significantly higher peak and safe trough serum concentrations in term infants, compared to the twice-daily regimen of 2.5 mg/kg. We suggest that measurement of gentamicin concentration may be not required when once-daily regimen is prescribed for 72 hours to term infants with suspected sepsis.