A Saudi Girl With Co-occurring CHD1 (Pilarowski-Bjornsson Syndrome) and ASH1L Gene Variants.

Pilarowski-Bjornsson Syndrome (PBS) is a recently identified and rare genetic disorder. PBS is caused by missense variants in the CHD1 gene, a chromatin remodeler and helicase DNA-binding protein. In this report, we present the first case of PBS in Saudi Arabia. The patient exhibits a phenotype and genotype that are consistent with previously reported cases of PBS. Notably, this case is unique due to the coexisting presence of an absent, small, and homeotic disks protein 1 homolog like a histone lysine methyltransferase (ASH1L) variant and developmental dissociation. The ASH1L variant may contribute to the developmental dissociation observed in the patient. Furthermore, since the patient is female, this case contributes to the female-skewed distribution of PBS, although the exact cause of this phenomenon requires further investigation. This report highlights the importance of identifying and characterizing rare genetic disorders such as PBS. Understanding the genetic basis of these disorders can lead to improved diagnosis, treatment, and management strategies. Continued research on the genetic and molecular mechanisms underlying PBS and related disorders is crucial for advancing our knowledge and developing effective therapies.

Saudi mothers' preferences about breaking bad news concerning newborns: a structured verbal questionnaire.

BACKGROUND: Breaking bad news (BBN) to parents whose newborn has a major disease is an ethical dilemma. In Saudi Arabia, BBN about newborns is performed according to the parental preferences that have been reported from non-Arabic/non-Islamic countries. Saudi mothers' preferences about BBN have not yet been studied. Therefore, we aimed to elicit the preferences of Saudi mothers about BBN concerning newborns. METHODS: We selected a convenience sample of 402 Saudi mothers, aged 18-50 years, who had no previous experience with BBN. We selected them via a simple number-randomization scheme from the premises of a level III Saudi hospital between October of 2009 and January of 2011. We used a hypothetical situation (BBN about trisomy 21) to elicit their preferences about BBN concerning newborns via a structured verbal questionnaire composed of 12 multiple-choice questions. We expressed their preferences as percentages (95% confidence interval), and we used the Kendall's W test (W) to assess the degree of agreement in preferences. RESULTS: The Saudi mothers preferred that BBN be conducted with both parents together (64% [60-69]), albeit with weak levels of agreement (W = 0.29). They showed moderate agreement in their preferences that BBN should be conducted early (79% [75-83], W = 0.48), in detail (81% [77-85], W = 0.52), in person (88% [85-91], W = 0.58), and in a quiet setting (86% [83-90], W = 0.53). With extremely weak agreement, they preferred to have a known person present for support during BBN (56% [51-61], W = 0.01), to have close bodily contact with their babies (66% [61-70], W = 0.10), and to have no another patients present (64% [59-68], W = 0.08). They showed moderate levels of agreement in their desires to detail, in advance, their preferences about process of BBN by giving a reversible, written informed consent that could be utilized for guidance, if needed (80% [76-84], W = 0.36). CONCLUSIONS: In our experience, Saudi mothers' preferences about BBN concerning newborns are varied, suggesting that a "one-size-fits-all" approach is inappropriate. A reversible, written informed consent detailing their preferences about BBN that would be kept in their medical records and utilized for guidance, if needed, may be the best solution, given this level of diversity. These findings merit further study.

The effect of low to moderate patient volume on very low-birth-weight outcomes in a level III-B neonatal intensive care unit.

We studied the effect of a low- to moderate-volume, level III-B neonatal intensive care unit (NICU) on very low-birth-weight (VLBW) outcomes. We performed a retrospective analysis of the King Abdulaziz Hospital (KAH) NICU electronic database. Short-term outcomes of all inborn VLBW infants (501 to 1500 g) in the well-equipped, well-staffed KAH NICU (2003 to 2008) were benchmarked with data (1997 to 2002) from the National Institute of Children Health and Human Development and Neonatal Research Network (NICHD-NRN). Survival without major neonatal morbidity was defined as survival without bronchopulmonary dysplasia (BPD), grade III to IV intraventricular hemorrhage (IVH), and Bell's stage II to III necrotizing enterocolitis (NEC). The survival rates of VLBW infants at the KAH NICU ( N = 250) and the NICHD-NRN ( N = 18,153) were similar (84 versus 85%). A significantly higher rate of survival without major neonatal morbidity (80 versus 70%, P = 0.002) and lower rate of BPD (14 versus 22%, P = 0.005) were observed in KAH. The rates of grade III to IV IVH, Bell's stage II to III NEC, and late-onset sepsis were comparable in both cohorts. Our low- to moderate-volume, well-equipped, well-staffed, level III-B NICU achieved outcomes similar to the NICHD-NRN. Further study is warranted to ascertain how a lower-volume NICU achieved similar outcomes, as this could then be applied to quality improvement efforts.

Prevalence and Characteristics of Infant's Unexplained Breast Preference for Nursing One Breast: A Self-Administered Survey.

BACKGROUND: Breastfeeding is recommended by international bodies as the only source of infant nutrition during the first 6 months of life. Sometimes infants prefer to nurse on one breast for no obvious reason (hereafter called infant's unexplained breast preference [IUBP]). IUBP might reduce the rate of exclusive breastfeeding. The prevalence of IUBP is unknown because most of the literature on IUBP so far has been anecdotal. This study's objective was to investigate the prevalence and characteristics of IUBP among healthy infants in Al-Ahsa, Saudi Arabia. MATERIALS AND METHODS: We conducted a population-based, cross-sectional study between March and August 2013 in the Al-Ahsa area, Eastern Province, Saudi Arabia. Healthy infants who had been born at full term (≥37 weeks of gestation) and were 2-24 months of age were included. We distributed 600 self-administered surveys to mothers who attended vaccination clinics in nine primary healthcare centers. RESULTS: Of 478 mothers who responded to the survey, 121 (25.3%) reported unilateral breastfeeding. IUBP was the most common reason for unilateral breastfeeding, with a prevalence of 13.6% (65/478). IUBP developed at a median age of 1 month (range, 1 day-9 months) and was familial in 42.9% of cases. It was the only reason for formula feeding during the first 6 months of life in 18.5% of cases. CONCLUSIONS: IUBP is common, develops very early in life, and can be familial and a reason for formula feeding. However, these findings need to be confirmed in other studies of other populations.

A Systematic Review and Meta-analysis of the Timing of Early Intraventricular Hemorrhage in Preterm Neonates: Clinical and Research Implications.

A considerable number of intraventricular hemorrhages (IVH) occur within the first hours of life (HOL). Temporality between IVH and its antecedents as well as a consistent definition of "early IVH" is lacking in a large and growing body of literature. We performed a systematic review of prospective studies that reported onset of IVH in preterm neonates within the first HOL and afterwards. The English literature was searched using three databases up to March 2013. Four timing periods of IVH can be compared in 16 identified studies: 0-6; 7-12; 13-24; after 24 HOL. The 0-6 and after 24 HOL were the major modes of IVH timing. Pooled IVH proportions were estimated through a meta-analysis of studies that were conducted after antenatal steroid and surfactant era. In neonates weighing ≤1500 g at birth: 48% of IVH (95% CI: 42-58%, 5 studies, 279 IVH cases) occurred during 0-6 HOL and 38% (95% CI: 19-57%, 4 studies, 241 IVH cases) after 24 HOL. The 0-6 HOL is the shortest, most vulnerable period for IVH, thus, an early IVH is an IVH occurs in it. Such early IVH had prognostic, etiological/preventive and medicolegal implications. Accordingly, preterm neonates at risk of IVH should have their first routine screening head ultrasound at about 6 HOL. Future research exploring the antecedents of IVH should guaranty the temporality between these antecedents and IVH. Additional research will be required to determine whether the long term neurological outcomes of early and late IVH are the same.

Associations between spontaneous preterm birth and maternal-newborn ABO blood phenotype pairs.

OBJECTIVE: To study whether spontaneous preterm birth (SPB) is associated with maternal-newborn ABO blood phenotype pairs. METHODS: We conducted a retrospective case-control study in the Department of Pediatrics, King Abdulaziz Hospital, Al-Ahsa, Kingdom of Saudi Arabia. A total of 631 live singleton SPBs (less than 37 weeks) between August 2005 and May 2011 formed the case group. A total of 2,204 live singleton term births (greater than or equal to 37 weeks) between May 2008 and April 2009 formed the control group. We extracted data on the mothers and their newborns from our neonatal electronic database and delivery room log book. We extracted ABO blood phenotypes using Cerner's Lab Information Software. We used a Chi square test to study the association between SPB and maternal-newborn ABO pairs. We used a combination of maternal-newborn A-A, B-B, AB-AB, and O-O pairs as the reference group. We used a binary logistic regression analysis to adjust for 6 established risk factors for SPB. RESULTS: Spontaneous preterm birth was associated with only maternal-newborn pairs B-A (odds ratio: 2.67, 95% confidence interval: 1.35-5.24, p=0.003) and AB-B (odds ratio: 1.97, 95% confidence interval: 1.04-3.74, p=0.04). Both associations remained significant in the regression analysis. CONCLUSION: Spontaneous preterm birth is associated with maternal-newborn B-A and AB-B pairs. This finding requires further confirmatory and exploratory study as it could reduce SPBs.

Hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient male newborns in Al-Ahsa, Saudi Arabia.

OBJECTIVE: To study the clinical and laboratory characteristics of hyperbilirubinemia in glucose-6-phosphate dehydrogenase (G6PD)-deficient male newborns from Al-Ahsa area (Ahsais). METHODS: The medical records of inborn male infants at King Abdulaziz Hospital (KAH) in Al-Ahsa area, Kingdom of Saudi Arabia from May 2008 through April 2009 were reviewed. Inclusion criteria were healthy non-polycythemic G6PD-deficient Ahsai males born at less than or equal to 37 weeks gestation, weighing less than or equal to 2.5 kg, with no other cause of hyperbilirubinemia, and were sampled for a total serum bilirubin (TSB) within the first 48 hours of life. Hyperbilirubinemics were compared with non-hyperbilirubinemic newborns. RESULTS: Among the 93 G6PD-deficient newborns that met the inclusion criteria, 67 were hyperbilirubinemic and required phototherapy, and 13 of them required re-phototherapy. Phototherapy was started at 11 +/- 4 (mean +/- SD) hours of life, and for a total duration of 42 +/- 28 hours. Hyperbilirubinemics had statistically significant higher levels of both hematocrit (53 +/- 6 versus 49 +/- 8%, p=0.02) and hemoglobin (176 +/- 18 versus 166 +/- 21 g/L, p=0.04), and lower reticulocyte percentage (4.3 +/- 0.7 versus 5.2 +/- 1.0 %, p=0.02), when compared to non-hyperbilirubinemic newborns. CONCLUSION: Hyperbilirubinemia in G6PD-deficient Ahsai male newborns was characterized by higher levels of both hematocrit and hemoglobin levels, and lower reticulocyte percentage compared to their non-hyperbilirubinemic counterpart. This hyperbilirubinemia required early phototherapy and re-phototherapy. Appropriate follow up should be made available to those high-risk newborns. Further research is needed to understand the exact mechanism of hyperbilirubinemia in G6PD-deficient newborns.