Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic and environmental factors. Previous genome-wide association studies (GWASs) have identified at least 15 risk loci for CL/P. As these loci do not account for all of the genetic variance of CL/P, we hypothesized the existence of additional risk loci. We conducted a multiethnic GWAS in 6480 participants (823 unrelated cases, 1700 unrelated controls and 1319 case-parent trios) with European, Asian, African and Central and South American ancestry. Our GWAS revealed novel associations on 2p24 near FAM49A, a gene of unknown function (P = 4.22 × 10), and 19q13 near RHPN2, a gene involved in organizing the actin cytoskeleton (P = 4.17 × 10). Other regions reaching genome-wide significance were 1p36 (PAX7), 1p22 (ARHGAP29), 1q32 (IRF6), 8q24 and 17p13 (NTN1), all reported in previous GWASs. Stratification by ancestry group revealed a novel association with a region on 17q23 (P = 2.92 × 10) among individuals with European ancestry. This region included several promising candidates including TANC2, an oncogene required for development, and DCAF7, a scaffolding protein required for craniofacial development. In the Central and South American ancestry group, significant associations with loci previously identified in Asian or European ancestry groups reflected their admixed ancestry. In summary, we have identified novel CL/P risk loci and suggest new genes involved in craniofacial development, confirming the highly heterogeneous etiology of OFCs.
BackgroundThe etiology of maxillofacial injuries varies from one country to another and even within the same country depending on the prevailing socioeconomic, cultural and environmental factors. Periodic verification of the etiology of maxillofacial injuries helps to recommend ways in which maxillofacial injuries can be averted. The aim of the present study is therefore to analyse the characteristics and trends of maxillofacial injuries in Nigeria based on a systematic review of the literature.MethodsA literature search using MEDLINE was conducted for publications on maxillofacial injuries in Nigeria. The relevant references in these publications were manually searched for additional non-Medline articles or abstracts. Forty-two studies met the inclusion criteria and the full-texts of these articles were thoroughly examined. Due to lack of uniformity and consistency in assessment and measurement variables, and treatment modalities in most of the studies, it was impossible to apply the traditional methods of a systematic review. Therefore, a narrative approach was conducted to report the findings of the included studies.ResultsAlthough, other causes like assaults, sport injuries, and industrial accidents increased in numbers, throughout the period between 1965 and 2003, road traffic crashes remained the major etiological factor of maxillofacial injuries in all regions, except northeastern region where assault was the major cause. A significant increase in motorcycles related maxillofacial injuries was observed in most urban and suburban centres of the country. Animal attacks were not an unusual cause of maxillofacial injuries in most parts of northern Nigeria. Patients in the age group of 21–30 years were mostly involved. A strong tendency toward an equal male-to-female ratio was observed between earlier and later periods.ConclusionRoad traffic crashes remain the major cause of maxillofacial injuries in Nigeria, unlike in most developed countries where assaults/interpersonal violence has replaced road traffic crashes as the major cause of the injuries. There is a need to reinforce legislation aimed to prevent road traffic crashes and the total enforcement of existing laws to reduce maxillofacial injuries among children and adults. Special attention should also be paid by the authority to improve the socioeconomic conditions of Nigerian populace.
Cleft palate (CP) is a common birth defect occurring in 1 in 2,500 live births. Approximately half of infants with CP have a syndromic form, exhibiting other physical and cognitive disabilities. The other half have nonsyndromic CP, and to date, few genes associated with risk for nonsyndromic CP have been characterized. To identify such risk factors, we performed a genome-wide association study of this disorder. We discovered a genome-wide significant association with a missense variant in GRHL3 (p.Thr454Met [c.1361C>T]; rs41268753; p = 4.08 × 10(-9)) and replicated the result in an independent sample of case and control subjects. In both the discovery and replication samples, rs41268753 conferred increased risk for CP (OR = 8.3, 95% CI 4.1-16.8; OR = 2.16, 95% CI 1.43-3.27, respectively). In luciferase transactivation assays, p.Thr454Met had about one-third of the activity of wild-type GRHL3, and in zebrafish embryos, perturbed periderm development. We conclude that this mutation is an etiologic variant for nonsyndromic CP and is one of few functional variants identified to date for nonsyndromic orofacial clefting. This finding advances our understanding of the genetic basis of craniofacial development and might ultimately lead to improvements in recurrence risk prediction, treatment, and prognosis.
BackgroundThe apparent interactions between the mechanisms of action of non-steroidal anti-inflammatory drugs (NSAIDS) and steroids suggest that co-therapy may provide beneficial inflammatory and pain relief in the absence of side effects. The aim of the study was to compare the effect of co-administered dexamethasone and diclofenac potassium (diclofenac K) with diclofenac K alone on the postoperative pain, swelling and trismus after surgical removal of third molars.Patients and MethodsA prospective randomized double-blind study was conducted at the Department of Oral and Maxillofacial Surgery, Lagos University Teaching Hospital, Nigeria. A total of 100 patients were randomly allocated to two treatment groups of dexamethasone (prophylactic 8 mg and postoperative 4 mg IV) and diclofenac K (50 mg Oral before and after surgery), and diclofenac K alone (as with first group). The overall analgesic efficacy of the drug combinations was assessed postoperatively by determination of pain intensity using a category rating scale. Facial swelling was measured using a tape measure placed from tragus to gonion to tragus, while interincisal mouth-opening of patients was measured using a vernier calibrated caliper pre-operatively and post-operatively.ResultsCo-administration of dexamethasone and diclofenac K was significantly superior to diclofenac alone for the relief of pain (P < 0.05), and facial swelling up to post-operative 48 hour (P < 0.05). However, there was no significant difference for trismus relief between the two medication protocols (P > 0.05).ConclusionThis study illustrates enhanced effects of co-administered dexamethasone and diclofenac K on short-term post-operative pain and swelling, compared to diclofenac potassium alone in third molar surgery.
Introduction In vitro studies have shown the efficacy of Ivermectin (IV) to inhibit the SARS - CoV- 2 viral replication, but questions remained as to In-vivo applications. We set out to explore the efficacy and safety of Ivermectin in persons infected with COVID19. Methods We conducted a translational proof of concept (PoC) randomized, double blind placebo controlled, dose response, parallel group study of IV efficacy in RT - PCR proven COVID 19 positive patients. 62 patients were randomized to 3 treatment groups. (A) IV 6mg regime, (B)IV 12 mg regime (given Q84hrs for 2weeks) (C, control) Lopinavir/Ritonavir. All groups plus standard of Care. Results The Days to COVID negativity [DTN] was significantly and dose dependently reduced by IV (p = 0.0066). The DTN for Control were, = 9.1+/-5.2, for A 6.0 +/- 2.9, and for B 4.6 +/-3.2 . 2 Way repeated measures ANOVA of ranked COVID 19 +/- scores at 0, 84, 168, 232 hours showed a significant IV treatment effect (p = 0.035) and time effect (p < 0.0001). IV also tended to increase SPO2% compared to controls, p = 0.073, 95% CI - 0.39 to 2.59 and increased platelet count compared to C (p = 0.037) 95%CI 5.55 - 162.55 × 103/ml. The platelet count increase was inversely correlated to DTN (r = -0.52, p = 0.005). No SAE was reported. Conclusions 12 mg IV regime may have superior efficacy. IV should be considered for use in clinical management of SARS-Cov-2, and may find applications in community prophylaxis in high-risk areas.
Background: Head and neck cancers (HNC) constitute 5-8% of total body cancers in Europe and America. It is difficult to appreciate the problem of cancers in Nigeria because most studies available are hospital-based studies. The aim of this study is to highlight current evidence on the burden of head and neck cancers in Nigeria based on literature review and to discuss potential health care actions to improve management.
IntroductionPreterm birth is a dire complication of pregnancy that poses huge long-term medical and financial burdens for affected children, their families, and the health care system. The aim of the present study was to identify characteristics associated with preterm births at the Lagos University Teaching Hospital (LUTH), Lagos, Nigeria from 2011 to 2013.MethodsWe obtained Information from 5,561 maternal, fetal/neonatal and obstetric records from the labor ward. We excluded delivery at less than 22 weeks (0.25%), post-term birth at ≥42 weeks gestation (1.3%), and unknown gestation (1.4%). Additionally, we excluded records of multiple births (5.4%) and stillbirths (8.3%) leaving 4,691 records of singleton live-births for analysis. Logistic regression analysis was performed comparing preterm birth (22-36 weeks gestation) to term birth (37-41 weeks gestation). Multiple variable models adjusting for maternal age, parity, fetal position, delivery method and booking status were also evaluated. Multinomial regression was used to identify characteristics associated with preterm birth (PTB) defined as early PTB (22-31 weeks gestation), moderate PTB (32-34 weeks gestation), late PTB (35-36 weeks gestation), compared to term birth (37-41 completed weeks gestation).ResultsFrom our data, 16.8% of the singleton live-birth deliveries were preterm (<37 weeks gestation). Of these, 4.7% were early (22-31 weeks), 4.5% were moderate (32-34 weeks) and 7.7% were late (35-36) PTBs. Older maternal age (≥35 years) [odds ratio (OR) = 1.41], hypertension (OR = 3.44) and rupture of membranes (OR = 4.03) were significantly associated with increased odds of PTB. Women being treated for the prevention of mother-to-child transmission of HIV were at a significantly decreased risk for PTB (OR = 0.70). Sixteen percent of women in this cohort were not registered for antenatal care in LUTH. These non-registered subjects had significantly greater odds of all categories of PTB, including early (odds ratio (OR) = 20.8), moderate (OR = 8.68), and late (OR = 2.15).ConclusionPTB and risks for PTB remain high in Nigeria. We recommend that any high risk pregnancy should be referred to a tertiary center for prenatal care in order to significantly reduce adverse birth outcomes such as PTBs.
The aim of this paper is to review the literature and identify orofacial manifestations of hematological diseases, with particular reference to anemias and disorders of hemostasis. A computerized literature search using MEDLINE was conducted for published articles on orofacial manifestations of hematological diseases, with emphasis on anemia. Mesh phrases used in the search were: oral diseases AND anaemia; orofacial diseases AND anaemia; orofacial lesions AND anaemia; orofacial manifestations AND disorders of haemostasis. The Boolean operator "AND" was used to combine and narrow the searches. Anemic disorders associated with orofacial signs and symptoms include iron deficiency anemia, Plummer-Vinson syndrome, megaloblastic anemia, sickle cell anemia, thalassaemia and aplastic anemia. The manifestations include conjunctiva and facial pallor, atrophic glossitis, angular stomatitis, dysphagia, magenta tongue, midfacial overgrowth, osteoclerosis, osteomyelitis and paraesthesia/anesthesia of the mental nerve. Orofacial petechiae, conjunctivae hemorrhage, nose-bleeding, spontaneous and post-traumatic gingival hemorrhage and prolonged post-extraction bleeding are common orofacial manifestations of inherited hemostatic disorders such as von Willebrand's disease and hemophilia. A wide array of anemic and hemostatic disorders encountered in internal medicine has manifestations in the oral cavity and the facial region. Most of these manifestations are non-specific, but should alert the hematologist and the dental surgeon to the possibilities of a concurrent disease of hemopoiesis or hemostasis or a latent one that may subsequently manifest itself.
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