Nuha Nimeri

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 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*

Abstract 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 0–6) were collected from all public and private maternity units in Qatar (1st January–December 31st 2011) and compared with historical perinatal mortality data (1990–2010) 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 0.58–0.89, 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.

Have neonatal mortality rates in the state of Qatar become static? A PEARL study analysis

To ascertain the national neonatal mortality rate in Qatar during the first quarter of 2011 (1 January-31 March), we carried out a prospective pilot national epidemiologic study. Nationwide birth and neonatal mortality data were collected using predesigned, structured questionnaires. To analyse trends over the previous 4 years (2008-2011) we used neonatal mortality data for 2008-2010 from the database of the neonatal unit at the Womens Hospital, annual reports of Hamad Medical Corporation, and published neonatal mortality data for 2010 for comparative analysis. A total of 4909 live births and 21 neonatal deaths were recorded during the study period. The neonatal mortality rate was 4.28/1000 live births (corrected neonatal mortality rate 2.85/1000). The early neonatal mortality rate was 1.84/1000 and the late neonatal mortality rate was 2.44/1000 live births. Fifteen of the 21 neonatal deaths were in non-Qatari babies, reflecting the ethnic distribution in the population. Neonatal mortality rates in Qatar declined very little between 2008 and the first quarter of 2011.

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 Womens 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.

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 Ebsteins anomaly is very rare. We are reporting a rare case of severe heart failure and complex cardiac anomaly including biventricular non-compaction cardiomyopathy, Ebsteins 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.