Birth prevalence of non-syndromic orofacial clefts in Saudi Arabia and the effects of parental consanguinity

Objectives:

To describe the characteristics and prevalence of non-syndromic orofacial clefting (NSOFC) and assess the effects of parental consanguinity on NSOFC phenotypes in the 3 main cities of Saudi Arabia.

Methods:

All infants (114,035) born at 3 referral centers in Riyadh, and 6 hospitals in Jeddah and Madinah between January 2010 and December 2011 were screened. The NSOFC cases (n=133) were identified and data was collected through clinical examination and records, and information on consanguinity through parent interviews. The diagnosis was confirmed by reviewing medical records and contacting the infants’ pediatricians. Control infants (n=233) matched for gender and born in the same hospitals during the same period, were selected.

Results:

The prevalence of NSOFC was 1.07/1000 births in Riyadh, and 1.17/1000 births overall; cleft lip (CL) was 0.47/1000 births, cleft lip and palate (CLP) was 0.42/1000 births, and cleft palate (CP) was 0.28/1000 births. Cleft palate was significantly associated with consanguinity (p=0.047, odds ratio: 2.5, 95% confidence interval: 1 to 6.46), particularly for first cousin marriages.

Conclusion:

The birth prevalence of NSOFC in Riyadh alone, and in the 3 main cities of Saudi Arabia were marginally lower than the mean global prevalence. While birth prevalence for CLP was comparable to global figures, the CL:CLP ratio was high, and only CP was significantly associated with consanguinity.Non-syndromic orofacial clefting (NSOFC), including isolated cleft lip (CL), cleft lip and palate (CLP), and isolated cleft palate (CP), is the most common craniofacial defect worldwide with an estimated mean global prevalence of 1.25/1000 live births.1 However, the prevalence of NSOFC varies geographically and across different ethnic groups.2 Although the ethnicity of the Middle East is considered Caucasian,3,4 geographically it is located between 3 continents (Asia, Africa, and Europe), which makes it unique and, in reality, a mixture of 3 ethnicities. A small number of studies have measured the prevalence of NSOFC in Saudi Arabia and neighboring countries with the reported prevalence ranging from 0.3 to 2.19/1000 births,5-9 and a mean value for all studies of 1.25/1000 births.10 In addition, consanguineous relationships have been suggested to increase the prevalence of congenital anomalies.11 These were also reported to be associated with NSOFC in a meta-analysis carried out on 16 studies that assessed the relationship between NSOFC and paternal consanguinity.12 Saudi Arabia, one of the largest countries in the Middle East, has a high rate of consanguineous marriage that varies between regions.13 Riyadh, which is the capital city of Saudi Arabia with a population of approximately 7.5 million and birth prevalence of 38,000/year,14,15 has a consanguinity marriages prevalence of 60%.16 The aims of this study were to 1) describe the characteristics and prevalence of NSOFC (CL, CLP, and CP) in Riyadh (the capital city in the central region of Saudi Arabia), 2) describe the prevalence of NSOFC phenotypes, and 3) the relationship between these and consanguinity in Saudi Arabia.     

Attitudes towards domestic violence in Lebanon: a qualitative study of primary care practitioners

Background

Domestic violence (DV) is highly prevalent in the developing and developed world. Healthcare systems internationally are still not adequately addressing the needs of patients experiencing violence.

Aim

To explore physicians’ attitudes about responding to DV, their perception of the physician’s role, and the factors that influence their response.

Design and setting

Qualitative study using individual interviews among primary care practitioners working in Lebanon.

Method

Primary care clinicians practising for >5 years and with >100 patient consultations a week were interviewed. Physicians were asked about their practice when encountering women disclosing abuse, their opinion about the engagement of the health services with DV, their potential role, and the anticipated reaction of patients and society to this extended role.

Results

Physicians felt that they were well positioned to play a pivotal role in addressing DV; yet they had concerns related to personal safety, worry about losing patients, and opposing the norms of a largely conservative society. Several physicians justified DV or blamed the survivor rather than the perpetrator for triggering the violent behaviour. Moreover, religion was perceived as sanctioning DV.

Conclusion

Perceived cultural norms and religious beliefs seem to be major barriers to physicians responding to DV in Lebanon, and possibly in the Arab world more generally. Financial concerns also need to be addressed to encourage physicians to address DV.     

Investigation of the interleukin-1 gene cluster polymorphisms in Jordanian patients with chronic and aggressive periodontitis

Objective

Interleukin-1 (IL-1) is a proinflammatory cytokine that is highly elevated in response to bacterial biofilms and is a potential risk factor for periodontal diseases. IL-1 gene polymorphisms have been associated with the IL-1 level. The aim of this study was to investigate if IL-1 gene cluster polymorphisms are associated with chronic (CP) and aggressive (AgP) periodontitis in a Jordanian population.

Methods

A total of 100 CP, 80 AgP patients and 80 controls were genotyped using PCR for IL-1RN-86-bp VNTR and PCR-RFLP for IL-1A-889, IL-1B-511, -35, +3953, and IL-1RN +8006, +9589, +11100 SNPs. The distribution of alleles and genotypes between groups was compared using χ² analysis. Estimation of haplotype frequencies was carried out using the EH programme.

Results

The IL-1RN8006 SNP and the IL-1RN-VNTR were associated with CP but not with AgP. The C allele and TC genotype of IL-1RN8006 were increased in CP (P_corr = 0.002, 0.00026 respectively). The A1 allele and A1/A1 genotype of the IL1-RN-VNTR were significantly increased in CP (P_corr = 0.0007, <0.0001 respectively). The CA1 haplotype formed by both markers was present in 29 CP patients but not in any of the controls (P < 0.0001). No significant differences were found in the distribution of allele and genotype frequencies of the other markers between CP and AgP cases and controls.

Conclusions

IL-1RN 8006 and IL-1RN VNTR were associated with CP but not AgP in a Jordanian population, whilst other investigated markers in IL-1A, IL-1B and IL-1RN were not associated with either CP or AgP.     

Bilateral negative airway pressure pulmonary edema (NPPE)--a case report--

A case of negative pressure bilateral pulmonary edema in a 28 years old healthy female patient, scheduled for diagnostic pelvic laparoscopy for infertility. Following extubation and apparent recovery from anesthesia, she had strong inspiratory efforts due to airway obstruction caused by coughing and laryngeal spasm, that lead to negative pressure bilateral pulmonary edema. The pulmonary edema disappeared within few hours. She was breathing spontaneously through CPAP system (mask-bag-expiratory valve). Diuretics and lungs physiotherapy helped in controlling patient's complication.     

Epidemiology and clinical outcome of candidaemia among Jordanian newborns over a 10-year period

This retrospective study includes all newborn patients with culture proved candidaemia who were admitted to the neonatal intensive care unit of Jordan University Hospital through the period January 1995 to June 2006. Among 24 patients included, 13 (54.2%) died. The incidence of candidaemia was 0.27%, the mean age at diagnosis 25.9 d and the mean gestational age at birth 34.6 weeks. Species most frequently isolated were Candida albicans (50%) and C. krusei (20%). Previous gastrointestinal pathology was present in 41.7% of the cases. A comparison of cases due to C. albicans with those due to other species of Candida revealed no statistical differences in terms of demographic factors, age at onset of disease, mortality, clinical manifestations or risk factors. Based on our results, empirical antifungal therapy should be considered in neonates who have gastrointestinal pathology and other risk factors.     

Relationship between Oral Health-Related Quality of Life, Satisfaction, and Personality in Patients with Prosthetic Rehabilitations

Purpose: This study investigated the relationship between oral health‐related quality of life, satisfaction with dentition, and personality profiles among patients with fixed and/or removable prosthetic rehabilitations. Materials and Methods: Thirty‐seven patients (13 males, 24 females; mean age 37.6 ± 13.3 years) with fitted prosthetic rehabilitations and 37 controls who matched the patients by age and gender were recruited into the study. The Dental Impact on Daily Living (DIDL) questionnaire was used to assess dental impacts on daily living and satisfaction with the dentition. The Oral Health Impact Profile (OHIP) was used to measure self‐reported discomfort, disability, and dysfunction caused by oral conditions. Oral health‐related quality of life was assessed by the United Kingdom Oral Health‐Related Quality of Life (OHQoL‐UK) measure. Moreover, the NEO five‐factor inventory was used to assess participants’ personality profiles. Results: Prosthetic factors had no relationship to the DIDL, OHIP, and OHQoL‐UK scores. Patients with the least oral health impacts had better oral health‐related quality of life (p= 0.023, r =–0.37), higher levels of total satisfaction, and satisfaction with appearance, pain, oral comfort, general performance, and eating (p < 0.05, r =–0.79, –0.35, –0.59, –0.56, –0.58, and –0.50, respectively). Patients with better oral health‐related quality of life (QoL) had higher total satisfaction, satisfaction with oral comfort, general performance, and eating (p < 0.05, r = 0.34, 0.39, 0.33, and 0.37, respectively). Patients with lower neuroticism scores had less oral health impact (p= 0.006, r = 0.44), better oral health‐related QoL (p= 0.032, r =–0.35), higher total satisfaction, satisfaction with appearance, pain, oral comfort, and eating (p < 0.05, r =–0.58, –0.35, –0.33, –0.39, and –0.35, respectively). Conclusion: Patients’ satisfaction with their dentition and prosthetic rehabilitations has positive effects on oral health‐related QoL and oral health impacts and improves patients’ daily living and dental perceptions. Neuroticism might influence and predict patients’ satisfaction with their dentition, oral health impacts, and oral health‐related QoL. Satisfaction with the dentition might predict a patient's level of neuroticism.