Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.

Congenital muscular dystrophies are a group of progressive disorders with wide range of symptoms associated with diverse cellular mechanisms. Recently, biallelic variants in GGPS1 were linked to a distinct autosomal recessive form of muscular dystrophy associated with hearing loss and ovarian insufficiency. In this report, we present a case of a young patient with a homozygous variant in GGPS1. The patient presented with only proximal muscle weakness, and elevated liver transaminases with spared hearing function. The hepatic involvement in this patient caused by a novel deleterious variant in the gene extends the phenotypic and genotypic spectrum of GGPS1 related muscular dystrophy.

The residency levels' effect on pediatric dental rehabilitation operation time.

BACKGROUND: Postgraduate pediatric dental residents' competency, to perform dental rehabilitation procedures under General anesthesia (GA), at different levels of training is challenging for operation time control. An adequate operation time (OT) for children decreases morbidity risk and improves hospital time utilization efficiency. The aim of the study is to assess the effect of pediatric dental resident training level on OT for pediatric dental rehabilitation procedures under GA at King Abdulaziz Medical City (KAMC). METHODS: A cross-sectional study included pediatric dental rehabilitation performed under GA by pediatric dental residents at (KAMC) -Jeddah from October/2015 to September/2022. The primary outcome was OT, and the predictive variable was resident training levels. A linear regression analysis was used to compare OT between procedures performed by junior (years 1-2) or senior (years 3-4) trainees, adjusting for patient and operative factors. RESULTS: One thousand seven pediatric dental rehabilitation cases were performed under GA by junior (13) and senior (31) residents. The univariant analysis indicated that OT for senior residents was significantly longer (13 min) than for junior residents. However, the linear regression analysis showed that senior residents had a significantly shorter OT when considering the more dental procedures performed per case under GA than junior residents. Senior residents took significantly more radiographs and performed more primary pulp therapies and multi-surface anterior colored restorations under GA than junior residents. CONCLUSIONS: The OT for pediatric dental rehabilitation procedures under GA is associated with resident training level. The total OT was significantly longer based on procedure number, type, and resident level. The study indicated that senior residents could manage more complex cases in a shorter time. The finding emphasizes the importance of assigning GA cases to residents based on their level and the case's complexity. Additionally, it helps standardize the resident privileges under GA and understand the impact of residency training on hospital efficiency.

Prevalence of sodium-glucose transporter 2 inhibitor-associated diabetic ketoacidosis in real-world data: A systematic review and meta-analysis.

BACKGROUND: The U.S. Food and Drug Administration (FDA) revised the labels of sodium-glucose transporter 2 (SGLT2) inhibitors in December 2015 to inform users regarding the risk of diabetic ketoacidosis (DKA). As more drugs of this class are approved and their indications are expanded, this serious adverse effect has been increasingly reported. OBJECTIVE: This review evaluated observational studies to inform the prevalence of SGLT2-inhibitor-associated DKA compared with other antihyperglycemic agents. METHODS: A systematic review was conducted in PubMed and EMBASE until 19 July 2022 (PROSPERO: CRD42022385425). We included published retrospective cohort active comparator/new user (ACNU) and prevalent new user studies assessing SGLT2-inhibitor-associated DKA prevalence in adult patients with type 2 diabetes mellitus (T2DM) against active comparators. We excluded studies which lacked 1:1 propensity score matching. The JBI Checklist for Cohort Studies guided the risk-of-bias assessments. Meta-analysis was conducted based on the inverse variance method in R software. RESULTS: Sixteen studies with a sample of 2,956,100 nonunique patients met the inclusion criteria. Most studies were conducted in North America (n = 9) and adopted the ACNU design (n = 15). Meta-analysis of 14 studies identified 33% higher DKA risk associated with SGLT2 inhibitors (HR = 1.33, 95% CI: 1.14-1.55, P < 0.01). Meta-regression analysis identified the study location (P = 0.02), analysis principle (P < 0.001), exclusion of chronic comorbidities (P = 0.007), and canagliflozin (P = 0.04) as significant moderator variables. CONCLUSIONS: Despite limitations related to heterogeneity, generalizability, and misclassification, the results of this study show that SGLT2 inhibitors increase the prevalence of DKA among adult T2DM patients in the real world. The findings supplement evidence from randomized controlled trials (RCTs) and call for continued vigilance.

Characteristics and treatment results of patients with gastroenteropancreatic neuroendocrine tumors in a tertiary care centre.

BACKGROUND: Gastroenteropancreatic Neuroendocrine tumors (GEP-NET) are rare neoplasms with limited reported data from the Middle East. Our study aims to report the clinicopathological feature, treatment patterns, and survival outcomes of patients with GEP-NET from our part of the world. METHODS: Medical records of patients diagnosed with GEP-NET between January 2011 and December 2016 at a single center in Saudi Arabia were reviewed retrospectively, and complete clinicopathological and treatment data were collected. Patients' survival was estimated by the Kaplan-Meier method. RESULTS: A total of 72 patients were identified with a median age of 51 years (range 27-82) and male-to-female ratio of (1.1). The most common tumor location was the pancreas (29.1%), followed by small bowel (25%), stomach (12.5%), rectum (8.3%), colon (8.3%), and appendix (6.9%). Forty-one patients (57%) had well-differentiated grade (G)1, 21 (29%) had G2, and 4 (6%) had G3. In five patients, the pathology was neuroendocrine carcinoma and in one it could not be classified. 54.2% of the patients were metastatic at diagnosis. Forty-two patients underwent surgical resection as primary management while 26 underwent systemic therapy, three patients were put on active surveillance, and one was treated endoscopically with polypectomy. The 5-year overall survival and progression-free survivals were 77.2% and 49%, respectively, for the whole group. Patients with G1 and 2 disease, lower Ki-67 index, and surgically treated as primary management had significantly better survival outcomes. CONCLUSION: Our study suggests that the most common tumor locations are similar to western reported data. However, there seems to be a higher incidence of metastatic disease at presentation than in the rest of the world.

MYH1 is a candidate gene for recurrent rhabdomyolysis in humans.

Rhabdomyolysis is a serious medical condition characterized by muscle injury, and there are recognized genetic causes especially in recurrent forms. The majority of these cases, however, remain unexplained. Here, we describe a patient with recurrent rhabdomyolysis in whom extensive clinical testing failed to identify a likely etiology. Whole-exome sequencing revealed a novel missense variant in MYH1, which encodes a major adult muscle fiber protein. Structural biology analysis revealed that the mutated residue is extremely well conserved and is located in the actin binding cleft. Furthermore, immediately adjacent mutations in that cleft in other myosins are pathogenic in humans. Our results are consistent with the finding that MYH1 is mutated in rhabdomyolysis in horses and suggest that this gene should be investigated in cases with recurrent rhabdomyolysis.

Effect of magnetic field on the growth of the cultured Entamoeba histolytica isolated from patients in Palestine.

Static magnetic field (SMF) is generated in vicinity of moving charge or current passing through conductor. In this study, we aimed to investigate the effect of SMF on the growth of the cultured Entamoeba histolytica (E. histolytica) trophozoites. Different SMF strengths with maximum value equals 30 mT (mT) was applied on the E.histolytica for different periods of times: 0 h, 24 h, 48 h, and 72 h. A modified diphasic liver infusion agar medium was used for culturing E. histolytica in vitro. The results showed the successful stabilization of culture of E. histolytica trophozoites. If we kept the sample for longer time, e. g. 14 days, the growth rate decreases to zero. When applying 10 mT and 15 mT SMF on the sample, it is found that the cultivated E. histolytica trophozoites dies after 4 and 2 days respectively. The experiments suggested that the SMF inhibited the growth and the propagation of E. histolytica cells. In addition, it completely killed all the cells in a short time interval which depend on the SMF strength. It is concluded that the SMFs inhibits the growth of E. histolytica and change the morphology of these cells. Thus, we recommend to use SMF as treatment to mitigate the growth of E. histolytica.

Comparison of pre- and post-hemodialysis PHQ-9 depression scores in patients with end-stage renal disease: A cross-sectional study.

OBJECTIVES: An overlap between the somatic symptoms of depression and those of uremia seen in end-stage renal disease (ESRD) patients may affect the diagnosis of depression. This study aims to evaluate the effect of hemodialysis on the diagnosis of depression among patients on maintenance hemodialysis as dialysis diminishes the uremic symptoms, and to compare depression scores before and after dialysis. METHODS: This was a cross-sectional analytic study conducted from November 2018 through April 2019, in three tertiary hospitals. Consenting participants aged 18 years or older, who had received hemodialysis for at least three months were included. The Patient Health Questionnaire (PHQ-9) tool was used to collect patients' data and to identify symptoms of depression Pre- and post-hemodialysis. Depression scores were compared using the paired sample Wilcoxon rank test or the McNemar test, where appropriate. RESULTS: Overall, 163 participants were enrolled in the study. The average age of the participants was 56.5 years old, whereas 44.8% were females. The prevalence of depressive symptoms before hemodialysis was 48.5%, with prevalence of mild, moderate and moderately severe of 34.4%, 11.7% and 2.5%, respectively. On the other hand, the prevalence of depressive symptoms after hemodialysis was 46.6% with 36.8%, 9.2% and 0.6% of the participants reporting mild, moderate and moderately severe symptoms, respectively. We found no significant difference in depression scores before and after dialysis (p-values > 0.05). CONCLUSION: Our study supports the fact that the prevalence of depression is high among patients with ESRD on maintenance hemodialysis. We didn't find a significant difference in depression scores among hemodialysis patients before and after dialysis, with negligible effect of uremic symptoms on the diagnosis of depression. We suggest adopting routine screening of depression among this high-risk group of patients.

The feasibility of solar-powered small-scale brackish water desalination units in a coastal aquifer prone to saltwater intrusion: A comparison between electrodialysis reversal and reverse osmosis.

In the face of increasing water shortages worldwide, water desalination has the potential to expand the available freshwater supply options in many water stressed regions. This paper assesses the feasibility of adopting photovoltaic powered small-scale brackish water desalination units in a coastal aquifer facing saltwater intrusion and chronic water shortages. Moreover, a detailed cost comparison, which incorporates the associated environmental costs, is conducted between the Electrodialysis Reversal (EDR) technique and Reverse Osmosis (RO). The results showed that PV-powered small-scale desalination units were more economically viable as compared to grid-powered units, when the electricity tariffs reflected non-subsidized electricity prices and environmental costs were internalized. EDR-PV proved to be more economically feasible and with a lower environmental footprint as compared to RO-PV, up until the salinity of the aquifer was below 5000 ppm (EDR: 0.57-1.18 $/m3; RO = 1.19-1.59 $/m3). Beyond that salinity, the RO-PV was found to be the more economically viable option, with costs reaching as high as 2.65 $/m3 at a salinity of 25,000 ppm. Overall, the environmental costs between the two technologies varied significantly, largely due to differences in the generated brine volume, with EDR having better efficiencies at lower salinity levels. Finally, the study highlighted the risk of accelerating saltwater intrusion as a result of the increased market penetration of solar-powered desalination units along vulnerable coastal aquifers.

The composition and stability of the vaginal microbiome of healthy women.

Our knowledge of the composition of the vaginal environment in healthy women stands greatly improved. An imbalance in microbial communities is associated with a number of different diseases, disorders and other adverse health outcomes. Cultivation-independent studies have been published indicating that each woman has unique vaginal microbiota. The vaginal microbiome in pregnant women is more stable and associated with high level of Lactobacillus, particularly, Lactobacillus crispatus and low bacterial diversity. The current review was planned to provide a more complete picture of the abundance of various bacteria species in the vagina and how they impact women's reproductive health and pregnancy outcomes. This should provide a better understanding of what is considered a "healthy" or "unhealthy" vaginal microbiome and how the dysibiosis of the vagina affects the women. Additionally, it was planned to identify factors that influence the structure and / or composition of the microbial community.

Biosensor and molecular-based methods for the detection of human coronaviruses: A review.

The ongoing crisis due to the global pandemic caused by a highly contagious coronavirus (Coronavirus disease - 2019; COVID-19) and the lack of either proven effective therapy or a vaccine has made diagnostic a valuable tool in disease tracking and prevention. The complex nature of this newly emerging virus calls for scientists' attention to find the most reliable, highly sensitive, and selective detection techniques for better control or spread of the disease. Reverse transcriptase-polymerase chain reaction (RT-PCR) and serology-based tests are currently being used. However, the speed and accuracy of these tests may not meet the current demand; thus, alternative technology platforms are being developed. Nano biosensor technology platforms have been established as a promising diagnostic tool for rapid and accurate detection of viruses as well as other life-threatening diseases even in resource-limited settings. This review aims to provide a short overview of recent advancements in molecular and biosensor-based diagnosis of viruses, including the human coronaviruses, and highlight the challenges and future perspectives of these detection technologies.

Prevalence and associated factors of undiagnosed atrial fibrillation among end-stage renal disease patients on maintenance haemodialysis: a cross-sectional study.

BACKGROUND: Atrial fibrillation (AF) is the most prevalent sustained arrhythmia worldwide and it aggravates cardiovascular morbidity and mortality; however, this is largely under-diagnosed. Moreover, among end-stage renal disease patients on haemodialysis, AF is substantially more common and serious. The researchers conducted this study to assess the prevalence of, and the factors correlated with AF in Jordanian haemodialysis patients. METHODS: In a cross-sectional analysis conducted from October 2018 to February 2019 in four tertiary hospitals, the researchers enrolled all consenting patients aged 18 years or older who were on haemodialysis for at least three months prior to the study. We screened for AF clinically by pulse palpation, precordial auscultation, by an automated blood pressure monitor and an electrocardiogram. The researchers reported qualitative variables as counts and frequencies, while continuous variables were summarised using the mean or median where necessary. We used multiple logistic regression with backward selection to identify independent risk factors of AF. RESULTS: A total of 231 patients were enrolled; mean age was 54.8 ± 15.6 years (from 20 to 86), and 44.3% of them were women. The prevalence of AF was found to be 7.8% (95% CI, 4.8-12.2), with no gender disparity. Age (adjusted odds ratio [AOR] = 1.05; 95% CI, 1.01-1.10; p = 0.031), history of ischaemic heart disease (AOR = 3.74; 95% CI, 1.09-12.34; p = 0.033), history of smoking (AOR = 0.15; 95% CI, 0.02-0.60; p = 0.019), and low interdialytic weight gain (AOR = 0.50: 95% CI, 0.25-0.91; p = 0.031) were independently correlated to AF. CONCLUSIONS: The prevalence of AF among patients on maintenance haemodialysis is high, but largely undiagnosed. AF is generally associated with advancing age, history of ischaemic heart disease, lower interdialytic weight gain, and history of smoking. We suggest routine check-up of AF in this high-risk group of patients as anticoagulant therapy if indicated may prevent serious complications. However, there is a need for large-scale cohort studies and for the creation of regional chronic kidney disease and dialysis registries in the Middle East region.

Outcomes of a preoperative risk-based transfusion assignment protocol in sickle cell disease patients: a single-center retrospective study from Saudi Arabia.

Many patients with sickle cell disease (SCD) need surgical management during their lifetime. The best approach for preoperative transfusion in SCD is still to be determined. In this single-center retrospective study, we included HBSS/HBS-Beta0-thalassemia patients younger than 16 years of age who underwent surgery between January 2008 and July 2019. Preoperative transfusion assignment (PTA) was based on SCD severity and surgical risk. Patients were assigned to no transfusion, simple transfusion, or exchange transfusion. A total of 284 patients were identified and 66 (23%) underwent 78 procedures. Mean age at the time of procedure was 8 (5-11) years, mean baseline hemoglobin was 8.5 (7.8-9.3) g/dl, and mean hemoglobin F was 18.4 ± 8.2%. SCD severity was low-risk in 57 (73%) and high-risk in 21 (27%) patients. Surgical risk was low-risk in 20 (25.6%) and medium-risk in 58 (74.4%) procedures. PTA was no transfusion in 17 (22%), simple transfusion in 40 (51%), and exchange transfusion in 21 (27%) procedures. Postoperative complications occurred in five (6.4%) of procedures only in the simple transfusion group (three acute chest syndrome, one hemolytic anemia, one pain crisis) undergoing medium-risk surgery. Preoperative risk-based transfusion assignment is feasible. Despite a high baseline hemoglobin level in the no transfusion group, none of the patients developed postoperative complications. It is possible that the high baseline hemoglobin F phenotype was protective and indicates the need to study the risk/benefit of interventions used in this phenotype.

Safety assessment of the ethanolic extract of Gongronema latifolium Benth. leaves: a 90-day oral toxicity study in Sprague Dawley rats.

BACKGROUND: The leaves of Gongronema latifolium Benth. have long been recognized traditionally as a remedy for a variety of ailments in Africa. This study was conducted to evaluate the safety profile of the ethanolic extract of G. latifolium (GLES) leaves through a repeated dose 90-day oral toxicity study in male and female of Sprague Dawley rats. METHODS: GLES was orally administered at doses of 250, 500 and 1000 mg/kg/day consecutively for 90 days. RESULTS: No behavioral or physiological changes and mortality were observed. GLES did not have a marked impact on general hematological parameters and did not precipitate nephrotoxicity. However, compared to the control, serum triglycerides, total cholesterol and low-density lipoprotein levels were lower and white adipose tissue paired retroperitoneal fat depots were depleted in male rats treated with GLES3 by the end of the experiment. The liver was significantly enlarged in GLES-treated rats of both sexes. Negative gender-specific alterations were observed with the highest dose. Adverse risk was evident in the female rats mainly due to marked body weight gain and cerebrum weight reduction. CONCLUSION: Further research is needed to reach more specific conclusions about to the safety of ingesting high doses of GLES for long periods of time.

Factors influencing the reuse of reclaimed water as a management option to augment water supplies.

The reuse of treated wastewater, whether direct or indirect, can raise public concerns as a result of the overall risk perception. As such, community acceptance plays a significant role in the implementation of alternative water systems. Public attitudes towards water reuse are highly influenced by perceived health risk, religious prohibition, political issues, and the degree of human contact with recycled water. In most of the Mediterranean countries, wastewater is reused to different extents either within planned or unplanned schemes. Unfortunately, there are few in-depth studies of the socio-cultural aspects of reuse projects in developing countries, and Lebanon is no exception. Accordingly, this research will comprehensively tackle the issue of public knowledge, perceptions, and acceptance from different perspectives in an effort to provide national baseline information on wastewater reuse that is needed for future regulatory and developmental projects. As such, a survey was developed, tested, and administered. Results showed an inverse relation between the degree of human contact with the treated wastewater and public acceptance. People were found to be more inclined towards reuse for purposes with minimal human contact such as landscaping and agriculture with opposition when it came to use for personal use. Moreover, the results showed a general lack of trust in governing institutions and authorities, which could explain perceived health risks and perceptions of risk resulting from system failure. Overall, the willingness to use treated wastewater was found to vary as a function of the "disgust factor," religious beliefs, and perceptions of a high risk towards contracting waterborne diseases. The disgust towards reuse of treated wastewater was found to be a strong predictor affecting willingness to reuse whereby those who believed it is disgusting to reuse treated wastewater were found to be on average, three times less likely to reuse treated wastewater as compared to those who did not declare disgust. Similarly, a significant association was found between religious beliefs and respondents' willingness to use treated wastewater. Interviewees who thought treated wastewater reuse is not religiously accepted were, on average, twice less likely to use treated wastewater as compared to those who did not believe that reuse contradicts with their religious beliefs. Additionally, people's perceptions on associating the spread of water-borne diseases with reuse were found to be significant. Those who perceived that reusing treated wastewater would lead to diseases and affect the human health, were on average, twice less likely to accept reuse. Developing a comprehensive strategy that integrates increasing awareness and knowledge, setting policies related to water reuse, building public trust and communication channels, increasing public participation/engagement in decision making, and developing a sustainable management framework is thus crucial before any investments are made in reclaimed water-reuse projects.

Central Nervous System Brucellosis Granuloma and White Matter Disease in Immunocompromised Patient.

Brucellosis is a multisystem zoonotic disease. We report an unusual case of neurobrucellosis with seizures in an immunocompromised patient in Saudi Arabia who underwent renal transplantation. Magnetic resonance imaging of the brain showed diffuse white matter lesions. Serum and cerebrospinal fluid were positive for Brucella sp. Granuloma was detected in a brain biopsy specimen.

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.

BACKGROUND: Fifty random genetically unstudied families (limb-girdle muscular dystrophy (LGMD)/myopathy) were screened with a gene panel incorporating 759 OMIM genes associated with neurological disorders. Average coverage of the CDS and 10 bp flanking regions of genes was 99 %. All families were referred to the Neurosciences Clinic of King Faisal Specialist Hospital and Research Centre, Saudi Arabia. Patients presented with muscle weakness affecting the pelvic and shoulder girdle. Muscle biopsy in all cases showed dystrophic or myopathic changes. Our main objective was to evaluate a neurological gene panel as a first-line diagnostic test for LGMD/myopathies. RESULTS: Our panel identified the mutation in 76 % of families (38/50; 11 novel). Thirty-four families had mutations in LGMD-related genes with four others having variants not typically associated with LGMD. The majority of cases had recessive inheritance with homoallelic pathogenic variants (97.4 %, 37/38), as expected considering the high rate of consanguinity in the study population. In one case, we detected a heterozygous mutation in DNAJB responsible for LGMD-1E. Our cohort included seven different subtypes of LGMD2. Mutations of DYSF were the most commonly identified cause of disease followed by that in CAPN3 and FKRP. Non-LGMD myopathies were due to mutations in genes associated with congenital disorder of glycosylation (ALG2), rigid spine muscular dystrophy 1 (SEPN1), inclusion body myopathy2/Nonaka myopathy (GNE), and neuropathy (WNK1). Whole exome sequencing (WES) of patients who remained undiagnosed with the neurological panel did not improve our diagnostic yield. CONCLUSIONS: Our neurological panel achieved a high clinical sensitivity (76 %) and is an effective first-line laboratory test in patients with LGMD and other myopathies. This sensitive, cost-effective, and rapid assay significantly assists clinical practice especially in these phenotypically and genetically heterogeneous disorders. Moreover, the application of the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP) guidelines applied in the classification of variant pathogenecity provides a clear interpretation for physicians on the relevance of such findings.

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.

Sodium leak channel, nonselective (NALCN) is a voltage-independent and cation-nonselective channel that is mainly responsible for the leaky sodium transport across neuronal membranes and controls neuronal excitability. Although NALCN variants have been conflictingly reported to be in linkage disequilibrium with schizophrenia and bipolar disorder, to our knowledge, no mutations have been reported to date for any inherited disorders. Using linkage, SNP-based homozygosity mapping, targeted sequencing, and confirmatory exome sequencing, we identified two mutations, one missense and one nonsense, in NALCN in two unrelated families. The mutations cause an autosomal-recessive syndrome characterized by subtle facial dysmorphism, variable degrees of hypotonia, speech impairment, chronic constipation, and intellectual disability. Furthermore, one of the families pursued preimplantation genetic diagnosis on the basis of the results from this study, and the mother recently delivered healthy twins, a boy and a girl, with no symptoms of hypotonia, which was present in all the affected children at birth. Hence, the two families we describe here represent instances of loss of function in human NALCN.

Classical V600E and other non-hotspot BRAF mutations in adult differentiated thyroid cancer.

BACKGROUND: BRAF is the most frequently mutated gene in differentiated thyroid cancer (DTC). Previous studies on DTC have well documented high rates of the BRAF (V600E) mutation in patients of mixed ages. Previous studies either included a mix of pediatric and adult patients or pediatric patients only. However, the prevalence of hotspot and non-hotspot BRAF mutations and its significance in pure adult DTCs is not yet well determined. In this study we determine the frequency of this classical BRAF mutation and other rare BRAF mutations in pure adult DTCs. METHODS: A total of 204 adult DTC samples (Age >18 years) were analyzed for mutations in exon 15 of the BRAF gene by performing polymerase chain reaction (PCR) amplification of tumor genomic DNAs and direct sequencing of amplicons using Sanger sequencing. Obtained results were correlated to clinical and pathological characteristics of DTCs. Statistical analyses were performed using SPSS (The Statistical Package for Social Sciences) version 20 software. RESULTS: Overall, BRAF mutations were identified in 48.5 % (99/204) of adult DTCs. Three rare non-hotspot mutations (T599I, T599dup and K601E) were detected in four tumor samples (2 %). One (K601E) of these non-hotspot mutations occurred in conventional papillary thyroid cancer (CPTC) and other three (T599I, T599dup and K601E) were found in follicular variant PTC. We found significant association between BRAF (V600E) mutation and age (P < 0.0001), extrathyroidal invasion (P = 0.017), lymph node metastasis (P = 0.038) and TNM stage III/IV (P = 0.001). CONCLUSIONS: Our study is the first to report BRAF mutations in a pure adult sample of DTCs of Saudi Arabian ethnicity. Our results show a high rate and a strong prognostic role of the classical BRAF (V600E) mutation and also suggest a common occurrence of non-hot spot mutations in adult DTC from this highly inbred population.