Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry.

Microvillus inclusion disease (MVID) is a rare autosomal recessive condition characterized by a lack of microvilli on the surface of enterocytes, resulting in severe, life-threatening diarrhea that could lead to mortality within the first year of life. We identify two unrelated families, each with one child presenting with severe MVID from birth. Using trio whole-exome sequencing, we observed that the two families share a novel nonsense variant (Glu1589*) in the MYO5B gene, a type Vb myosin motor protein in which rare damaging mutations were previously described to cause MVID. This founder mutation was very rare in public databases and is likely specific to patients of Syrian ancestry. We present a detailed account of both patients' clinical histories to fully characterize the effect of this variant and expand the genotype-phenotype databases for MVID patients from the Middle East.

Reintubation rates after extubation to different non-invasive ventilation modes in preterm infants.

INTRODUCTION: Respiratory Distress Syndrome (RDS) is a common cause of neonatal morbidity and mortality in premature newborns. In this study, we aim to compare the reintubation rate in preterm babies with RDS who were extubated to Nasal Continuous Positive Airway Pressure (NCPAP) versus those extubated to Nasal Intermittent Positive Pressure Ventilation (NIPPV). METHODS: This is a retrospective study conducted in the Neonatal Intensive Care Unit (NICU) of Women's Wellness and Research Center (WWRC), Doha, Qatar. The medical files (n = 220) of ventilated preterm infants with gestational age ranging between 28 weeks 0 days and 36 weeks + 6 days gestation and extubated to non-invasive respiratory support (whether NCPAP, NIPPV, or Nasal Cannula) during the period from January 2016 to December 2017 were reviewed. RESULTS: From the study group of 220 babies, n = 97 (44%) babies were extubated to CPAP, n = 77 (35%) were extubated to NIPPV, and n = 46 (21%) babies were extubated to Nasal Cannula (NC). Out of the n = 220 babies, 18 (8.2%) were reintubated within 1 week after extubation. 14 of the 18 (77.8%) were reintubated within 48 h of extubation. Eleven babies needed reintubation after being extubated to NCPAP (11.2%) and seven were reintubated after extubation to NIPPV (9.2%), none of those who were extubated to NC required reintubation (P = 0.203). The reintubation rate was not affected by extubation to any form of non-invasive ventilation (P = 0.625). The mode of ventilation before extubation does not affect the reintubation rate (P = 0.877). The presence of PDA and NEC was strongly associated with reintubation which increased by two and four-folds respectively in those morbidities. There is an increased risk of reintubation with babies suffering from NEC and BPD and this was associated with an increased risk of hospital stay with a P-value ranging (from 0.02-0.003). Using multivariate logistic regression, NEC the NEC (OR = 5.52, 95% CI 1.26, 24.11, P = 0.023) and the vaginal delivery (OR = 0.23, 95% CI 0.07, 0.78, P = 0.018) remained significantly associated with reintubation. CONCLUSION: Reintubation rates were less with NIPPV when compared with NCPAP, however, this difference was not statistically significant. This study highlights the need for further research studies with a larger number of neonates in different gestational ages birth weight categories. Ascertaining this information will provide valuable data for the factors that contribute to re-intubation rates and influence the decision-making and management of RDS patients in the future.

Lethal severe congenital tracheal stenosis with tracheal ring complicating respiratory distress syndrome in an extremely premature infant: first reported case in Qatar with a literature review.

In the context of prematurity, lethal congenital airways malforamtion can be masked by the symptoms of respiratory distress syndrome. A high index of suspicion is required. We present the case of a 28-week preterm infant, with atypical protracted respiratory insufficiency despite the escalation of mechanical ventilation. The possibility of airway obstruction was considered in view of severe chest retraction while on the mechanical ventilator. It was also difficult to pass suction catheters beyond a certain depth in the trachea; however, intubation of the upper trachea was accomplished twice without difficulty. Flexible bronchoscopy revealed complete tracheal ring with severe tracheal stenosis; there was no evidence of tracheo-oesophageal fistula. Due to advanced multi-organ dysfunction at diagnosis, a decision was made with the family to re-orientate from intensive care to compassionate care. Ethical considerations in similar cases should incorporate the improved outcomes of prematurity and recent advances in tracheal reconstruction.

Level of maternal education is a significant determinant of neonatal survival: a PEARL study analysis.

The study analyzed the demographic and socio-economic determinants of neonatal mortality. The variables included one fetal variable (gender), three maternal variables (level of education, occupation, age), three paternal variables (level of education, occupation, age), and seven household (family) variables (nationality, consanguinity, family income, house ownership, type of housing, family type, domestic help). One calendar year data (January to December 2011) was extracted from Qatar's National Perinatal Registry and analyzed using a univariate regression model. Qatar had a total of 20,583 live births and 102 neonatal deaths during 2011 (NMR 4.95/1000). Less than secondary school maternal education level, as compared to secondary school or above maternal education level, was the only variable significantly associated with neonatal mortality (OR 2.08, 95% CI 1.23 - 3.53, p=0.009). The association between the remaining thirteen variables and neonatal mortality was non-significant. Priority investment to raise female literacy above secondary school level may significantly improve neonatal survival.

The national perinatal mortality rate in the State of Qatar during 2011; trends since 1990 and comparative analysis with selected high-income countries: the PEARL study project.

OBJECTIVE: To prospectively ascertain Qatar's national perinatal mortality rate (PMR) during 2011, compare it with recent data from selected high-income countries, and analyze trends in Qatar's PMR between 1990 and 2011 using historical data. STUDY DESIGN: A national prospective cohort study. METHODS: National data on live births, stillbirths, and early neonatal mortality (day 0­6) were collected from all public and private maternity units in Qatar (1st January­December 31st 2011) and compared with historical perinatal mortality data (1990­2010) ascertained from the database of maternity and neonatal units of Women's Hospital and annual reports of Hamad Medical Corporation (HMC). For inter-country comparison, country data were extracted from the World Health Statistics published by WHO in 2011 and from the European Perinatal Health Report published by the Europeristat project in 2008. RESULTS: A total of 20,725 births (20,583 live births plus 142 stillbirths) were recorded during the study period. Qatar's national PMR during 2011 was 9.55 [early neonatal mortality rate (ENMR) 2.7 and stillbirth rate (SBR) 6.85], which was a significant improvement from a PMR of 13.2 in 1990 [risk ratio (RR) 0.72, 95% confidence interval 0.58­0.89, P=0.002]. This improvement in PMR was more significant in ENMR (P<0.001) than in SBR (P=0.019). The stillbirths constituted 55% of PMR in 1990, which increased to 71.72% of PMR during 2011. The RR of PMR had a significant downwards trend between 1990 and 2011 (P=0.016). Qatar's 2011 PMR, SBR, and ENMR are comparable to those of selected high-income counties. CONCLUSIONS: Qatar's PMR, ENMR, and SBR have significantly improved between 1990 and 2011, and are currently comparable to those of selected high-income countries. An in-depth research to assess the correlates and determinants of stillbirth and perinatal mortality in Qatar is indicated.

Pai syndrome: first reported case in Qatar and review of literature of previously published cases.

A full-term male baby born with severe complete median cleft lip and palate and multiple facial cutaneous polyps on the right nostril, left and right ears and angle of the mouth. Eye fundus examination revealed hypopigmented fundi, pigmented rings around both discs and hypopigmented maculae. Neurological, Cardiovascular and abdominal examination was unremarkable, with normal echocardiography and abdominal ultrasound. CT and MRI of the brain revealed hypogenesis of the corpus callosum and midline paracallosal lipomas and calcifications. Chromosomal study showed normal male 46, XY karyotype. This is the first reported case in Qatar and the second case in a patient of Arabian descent.

The first reported case of non-compacted cardiomyopathy in a preterm infant with Ebstein's anomaly.

Non-compaction of the ventricular myocardium is a congenital dysfunction of ventricular morphogenesis caused by the arrest of normal embryogenesis of the ventricles. It is considered as a rare disease and can involve both ventricles but commonly the left ventricle. It is classified into isolated non-compaction of the ventricles and non-compaction associated with other congenital heart defects. Its association with Ebstein's anomaly is very rare. We are reporting a rare case of severe heart failure and complex cardiac anomaly including biventricular non-compaction cardiomyopathy, Ebstein's anomalies and large patent ductus arteriosus with severe persistent pulmonary hypertension in a 31-weeks-old preterm infant. The infant recovered smoothly and continued to be asymptomatic and off medications throughout his 2 years follow-up period. Up to our knowledge, this is the youngest and first patient yet reported to have this disease at this age with good recovery.

The incidence of low birth weight and intrauterine growth restriction in relationship to maternal ethnicity and gestational age at birth - A PEARL study analysis from the State of Qatar.

OBJECTIVE: To analyze the association between maternal ethnicity and gestational age with the incidence of low birth weight and intrauterine growth restriction. STUDY DESIGN: Prospective, analytic study Methods: The study was conducted between March 14th and April 4th 2011 in Women's Hospital HMC. The data was ascertained from the delivery register of labor ward on daily basis using predesigned, structured questionnaire. Data was stratified according to the maternal ethnicity groups and gestational age at birth (term and preterm). RESULTS: The total deliveries during the study period were 890; 35.5% Qatari (n 316) and 64.5% non-Qatari (n 574). The incidence of LBW was 12.36% (n 110). The difference of LBW incidence between Qatari (13.6% n 43) and non-Qatari (11.67% n 67) groups was non significant (RR 1.17, 95% CI 0.82-1.67, p = 0.401). The same was between non-Qatari sub groups (p < 0.05). The incidence of IUGR was 6% (n 54; 49.09% of LBW). The incidence of IUGR between Qatari (5.7% n 18) and non-Qatari (6.27% n 36) groups was significant (RR 0.45, 95% CI 0.3-0.6 p>0.05). The incidence of LBW was 7.85% (n 60) in term babies and 39.68% (n 50) in preterm babies. The incidence if IUGR was 3.79% (n 29) in term babies and 19.84% (n 25) in preterm babies. Preterm babies had a five times higher risk of both being LBW (RR 5.05; 95%CI 3.65-6.99; p < 0.001) and IUGR (RR 5.23; 95% CI 3.17-8.62; p < 0.001). CONCLUSION: The incidence of low birth weight is independent of maternal ethnicity in Qatar. However, the incidence of IUGR is significantly higher among the non-Qatari population. The relative risk of being LBW or IUGR is five times higher in preterm babies. Further in depth studies are indicated.

A PEARL Study Analysis of National Neonatal, Early Neonatal, Late Neonatal, and Corrected Neonatal Mortality Rates in the State of Qatar during 2011: A Comparison with World Health Statistics 2011 and Qatar's Historic Data over a Period of 36 Years (1975-2011).

OBJECTIVE: To prospectively ascertain Qatar's national Neonatal Mortality Rate (NMR), Early Neonatal Mortality Rate (ENMR), and Late Neonatal Mortality Rate (LNMR) during 2011, compare it with recent data from high-income countries, and analyze trends in Qatar's NMR's between 1975 and 2011 using historic data. STUDY DESIGN: A National prospective cohort-study. MATERIALS AND METHODS: National data on live births and neonatal mortality was collected from all public and private maternity facilities in Qatar (1(st) January-December 31(st) 2011) and compared with historical neonatal mortality data (1975-2010) ascertained from the database of maternity and neonatal units of Women's Hospital and annual reports of Hamad Medical Corporation. For inter country comparison, country data of 2009 was extracted from World Health Statistics 2011 (WHO) and the European Perinatal Health report (2008). RESULTS: A total of 20583 live births were recorded during the study period. Qatar's national NMR during 2011 was 4.95, ENMR 2.7, LNMR 2.2, and cNMR 3.33. Between 1975 and 2011, Qatar's population increased by 10-fold, number of deliveries by 7.2 folds while relative risk of NMR decreased by 87% (RR 0.13, 95% CI 0.10-0.18, P<0.001), ENMR by 91% (RR 0.09, 95% CI 0.06-0.12, P<0.001) and LNMR by 58% (RR 0.42, 95% CI 0.23-0.74, P=0.002). The comparable ranges of neonatal mortality rates from selected high-income West European countries are: NMR: 2-5.7, ENMR 1.5-3.8, and LNMR 0.5-1.9. CONCLUSIONS: The neonatal survival in the State of Qatar has significantly improved between 1975 and 2011. The improvement has been more marked in ENMR than LNMR. Qatar's current neonatal mortality rates are comparable to most high-income West European countries. An in-depth research to assess the correlates and determinants of neonatal mortality in Qatar is indicated.

Clinical and echocardiographic features of Ebstein's malformation in Sudanese patients.

UNLABELLED: Ebstein's malformation is a rare congenital cardiac malformation, accounting for about 0.5% of all congenital cardiac lesions. We report our experience with the anomaly as encountered at the Sudan Heart Centre from July 2004 to April 2005. Diagnosis was based on the echocardiographic demonstration of displacement of the septal leaflet of the tricuspid valve towards the ventricular apex by greater than 8 millimetres per metre squared. RESULTS: In a period of 10 months, we identified 12 patients with the malformation, this number constituting 2% of all patients seen with congenital cardiac disease. The age ranged from 2 weeks to 35 years. Of the patients, half were asymptomatic, while the other half presented with congestive cardiac failure, 4 of these having cyanosis in addition to heart failure. Associated diseases included chronic renal failure, impaired hearing, stunted growth, and developmental delay. Electrocardiographic abnormalities included peaked and tall P waves, seen in four-fifths, an Rsr pattern, first degree atrioventricular block, atrial fibrillation, and Wolf-Parkinson-White syndrome, including the Mahaim pattern of pre-excitation. Associated abnormalities diagnosed echocardiographically included atrial septal defects, prolapse of the leaflets of the mitral valve, left ventricular dysfunction, atrial septal aneurysm, pulmonary valvar stenosis, and pericardial effusion. CONCLUSIONS: Ebstein's malformation was seen four times more frequently at the Sudan Heart Centre when compared to the average frequency reported in the Western literature. Many of the associated diseases encountered in Sudan had not previously been reported.