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Background: Prevalence of seropositivity following SARS-CoV-2 infection is vital in evaluating herd immunity. However, depending on illness severity, it remains unclear whether the breadth and magnitude of immune response to SARS-CoV-2 infection is for short or long term. Objective: To test the persistence of humoral antibody responses after SARS-CoV-2 exposure in patients with different illness severity and among volunteers who had been vaccinated. Methods: This study was conducted in two Saudi Arabian tertiary hospitals. Participants were categorized as critically ill COVID-19 patients, non-critically ill COVID-19 patients, or vaccinated volunteers. We collected demographic data, COVID-19 exposure history, symptoms, vaccination details, and serum samples to analyze antibody persistence. We evaluated SARS-CoV-2 antibody concentrations in COVID-19 patients with varying disease severity and age groups, as well as in BNT162b2-vaccinated individuals, focusing on IgG levels against the S.FL and S1 domains of the spike protein. Results: The study included 172 adults: 92 unvaccinated hospitalized COVID-19 patients and 80 vaccinated volunteers. All vaccinated subjects demonstrated seropositivity to the SARS-CoV-2 spike protein, with nearly 80% having a median antibody titer of 13,500 AU/mL. Notably, vaccinated subjects exhibited significantly higher IgG levels than naturally infected patients (P < 0.001), including higher S.FL and S1 titers, regardless of severity. Age, comorbidities, and previous infections influenced S-specific antibody levels. Among hospitalized patients, 58% required intensive care, with 28- and 90-day mortality rates of 23% and 43%, respectively. Conclusion: These findings shed light on the immune response dynamics following SARS-CoV-2 infection compared to vaccinated individuals, where the latter showed significantly higher level of antibodies response, providing crucial insights for evaluating short-term herd immunity and the effectiveness of natural infection-induced immunity.

BackgroundPathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by epileptic seizures, unresponsiveness to standard antiseizure medications (ASM), and a response only to pyridoxine. Here, we report two patients (from a consanguineous family) with neonatal seizures and developmental delay.Case presentationPatient 1 (a 13-year-old girl) was born normally at term. Her pregnancy was complicated by antiphospholipid syndrome, and persistent vomiting was managed with several medications, including pyridoxine (40 mg daily). Seizures occurred 6 h after birth and did not respond to antiseizure medications. However, they ceased 2 days later when pyridoxine (40 mg daily) was administered. She continued her medications and had delayed early milestones. Phenobarbitone was discontinued at 18 months, and pyridoxine was increased to 100 mg daily at 8 years of age. She was able to join a regular school and performed well. Patient 2, a 12-year-old boy, was delivered normally at term. Seizures started 10 h after birth, and he immediately received 40 mg of pyridoxine. Seizures have been controlled since then, and he experienced delayed milestones. Pyridoxine was increased to 100 mg daily at 7 years of age. He is currently in fifth grade and has dyslexia. Whole exome sequencing (WES) revealed that both patients 1 and 2 harbor a novel homozygous missense variant in ALDH7A1 (NM_001202404: exon 12: c.1168G>C; (p.Gly390Arg)).ConclusionThe present study reports a novel ALDH7A1 variant causing PDE and highlights the associated developmental delay and intellectual disability, despite early seizure control treatment.

BackgroundIron–sulfur cluster assembly 2 (ISCA2) deficiency is linked to an autosomal recessive disorder known as multiple mitochondrial dysfunctions syndrome 4 (MMDS4). This disorder is characterized by leukodystrophy and neuroregression. Currently, most of the reported patients are from Saudi Arabia. All these patients carry a homozygous founder variant (NM_194279.2:c.229G>A:p.Gly77Ser) in ISCA2.MethodsWe describe a patient who underwent full clinical evaluation, including metabolic, neurological, and radiological examinations. Standard genetic testing, including whole exome sequencing coupled with autozygome analysis, was undertaken, as were assessments of mitochondrial DNA (mtDNA) copy number and mtDNA sequencing on DNA extracted from blood and cultured fibroblasts. Functional workup consisted of splicing assessment of ISCA2 using RT-PCR, biochemical assessment of complex I status using dipstick assays, and mitochondrial respiration measurements using a Seahorse XFp analyzer.ResultsWe present the clinical and functional characterization of a novel homozygous ISCA2 missense variant (NM_194279.3:c.70A>G:p.Arg24Gly), leading to aberrant splicing in a patient presenting with neuroregression, generalized spasticity with exaggerated deep tendon reflexes and head lag, and progressive loss of acquired milestones. The novel variant was fully segregated in a wider family and was absent in a large control cohort, ethnically matching in-house exomes, local databases such as CGMdb and Saudi Human Genome Program, and ClinVar.ConclusionsOur analyses revealed that the variant is pathogenic, disrupting normal ISCA2 splicing and presumably leading to a truncated protein that disturbs metabolic pathways in patient-derived cells.

Dendritic fibromyxolipoma (DFML) is a benign, very rare, and slow-growing soft tissue tumor commonly involving the muscular fascia of the foot, calf, shoulders, back, or head and neck muscles. Many authors consider dendritic fibromyxolipoma a variant of spindle cell lipoma composed of a plexiform vascular pattern, dendritic cytoplasmic processes, and keloidal collagen. Only a few cases have been reported in the shoulder region, and the presented case represents the second case in English literature whose histopathology showed intramuscular involvement. Recognition of such an entity is essential because it is considered a scarce type of benign tumor that can be mistaken for other aggressive neoplasms of myxoid pathology. We present a case of a dendritic fibromyxolipoma around the right shoulder with intramuscular involvement to the superficial fibers of the right trapezius muscle.

Abstract Gums are polysaccharides, proteins, and minerals that occur naturally in seed coverings and as exudative resinous substance from woody plants. It is reported to have antibacterial, anticancer, blood sugar regulation, and immune system boosting properties. However, the presence of toxic metals in gum is caused for caution as these metals can be harmful if taken in high quantities. The purpose of this study was to determine the amounts of toxic metals in gums collected from the local market, as many consumers tend to use them daily for incense or food ingredients. Gum samples were extracted from several parts of 10 selected medicinal plants (bark, sap, root, latex, leaf glue, and gum). Two fractions of each sample were produced using nitric acid (NHO3), followed by hydrochloric acid (HCl) at first and then hydrogen peroxide (H2O2). The presence of toxic metals in the solutions was determined using an Inductively Coupled Plasma Atomic Emission Spectrometer (ICP OES). The results showed that most of the elements were detected in high concentrations in Commiphora myrrha (Cd, Cu, Fe, K, Mn, Ni, Pb, and Zn) followed by Benzoin resin (Jawi Oud) and Paeonia officinalis. The most prevalent elements detected in all of the herbal gums were potassium (K) and iron (Fe). Fortunately, the sampled herbal gums were found to be within the WHO/FAO permitted range. This study may provide insights about the safety of the selected gums to be used for food applications. Further in vitro and in vivo toxicity studies should be performed to identify the safe dose.

Background: The Streptococcal pneumoniae urine antigen (SPUA) test was developed to increase microbiologic diagnosis of pneumonia. Concerns have been raised about the test’s low sensitivity and failure to alter outcomes by de-escalating antibiotics (PMID:31956656). However, the cost-effectiveness and real-world clinical utility of the test remain unclear. Methods: From June 1, 2022 - May 31, 2023, all patients with a SPUA test in the MUSC Health System were identified via Epic SlicerDicer. Those with a positive test underwent chart review. Antibiotics were classified as a “broad” or “targeted” regimen for S. pneumoniae. Targeted regimens included penicillins without beta-lactamase inhibitors, 1st-3rd generation cephalosporins, doxycycline, levofloxacin or moxifloxacin (with or without azithromycin), as well as azithromycin monotherapy. Broad regimens included 4th generation or higher cephalosporins, carbapenems, penicillins with beta-lactamase inhibitors, and vancomycin. Results: In one year, 1,518 patients had a SPUA test ordered. 62 (4%) patients had a positive test. Of those 62 patients, 14 patients were discharged before the test resulted (Table). The average turnaround time for the test was 2.2 days. When comparing antibiotic therapy on the day before the SPUA test resulted to two days after the test resulted, only 7 additional patients were switched to a targeted regimen (Figure). Conclusion: Of 1,518 SPUA tests ordered in a year, most (1,456 or 96%) were negative, with minimal changes to antibiotic therapy based on positive Results: These results are similar to other real-world studies, which showed a positive test prevalence between 4-8% (PMID:30265290) with 15-30% of patients changed to targeted antibiotics following a positive result (PMID:23111919, PMID: 28053969). The SPUA test cost approximately $44,022 (based on $29 test price) but has limited utility in a real-world setting.

Deep learning has attained state-of-the-art results in general image segmentation problems; however, it requires a substantial number of annotated images to achieve the desired outcomes. In the medical field, the availability of annotated images is often limited. To address this challenge, few-shot learning techniques have been successfully adapted to rapidly generalize to new tasks with only a few samples, leveraging prior knowledge. In this paper, we employ a gradient-based method known as Model-Agnostic Meta-Learning (MAML) for medical image segmentation. MAML is a meta-learning algorithm that quickly adapts to new tasks by updating a model’s parameters based on a limited set of training samples. Additionally, we use an enhanced 3D U-Net as the foundational network for our models. The enhanced 3D U-Net is a convolutional neural network specifically designed for medical image segmentation. We evaluate our approach on the TotalSegmentator dataset, considering a few annotated images for four tasks: liver, spleen, right kidney, and left kidney. The results demonstrate that our approach facilitates rapid adaptation to new tasks using only a few annotated images. In 10-shot settings, our approach achieved mean dice coefficients of 93.70%, 85.98%, 81.20%, and 89.58% for liver, spleen, right kidney, and left kidney segmentation, respectively. In five-shot sittings, the approach attained mean Dice coefficients of 90.27%, 83.89%, 77.53%, and 87.01% for liver, spleen, right kidney, and left kidney segmentation, respectively. Finally, we assess the effectiveness of our proposed approach on a dataset collected from a local hospital. Employing five-shot sittings, we achieve mean Dice coefficients of 90.62%, 79.86%, 79.87%, and 78.21% for liver, spleen, right kidney, and left kidney segmentation, respectively.

Background: Pathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by epileptic seizures, unresponsiveness to standard antiseizure medications (ASM), and a response only to pyridoxine. Here, we report two patients (from a consanguineous family) with neonatal seizures and developmental delay. Case presentation: Patient 1 (a 13-year-old girl) was born normally at term. Her pregnancy was complicated by antiphospholipid syndrome, and persistent vomiting was managed with several medications, including pyridoxine (40 mg daily). Seizures occurred 6 h after birth and did not respond to antiseizure medications. However, they ceased 2 days later when pyridoxine (40 mg daily) was administered. She continued her medications and had delayed early milestones. Phenobarbitone was discontinued at 18 months, and pyridoxine was increased to 100 mg daily at 8 years of age. She was able to join a regular school and performed well. Patient 2, a 12-year-old boy, was delivered normally at term. Seizures started 10 h after birth, and he immediately received 40 mg of pyridoxine. Seizures have been controlled since then, and he experienced delayed milestones. Pyridoxine was increased to 100 mg daily at 7 years of age. He is currently in fifth grade and has dyslexia. Whole exome sequencing (WES) revealed that both patients 1 and 2 harbor a novel homozygous missense variant in ALDH7A1 (NM_001202404: exon 12: c.1168G>C; (p.Gly390Arg)). Conclusion: The present study reports a novel ALDH7A1 variant causing PDE and highlights the associated developmental delay and intellectual disability, despite early seizure control treatment. [ABSTRACT FROM AUTHOR]

Background: Prevalence of seropositivity following SARS-CoV-2 infection is vital in evaluating herd immunity. However, depending on illness severity, it remains unclear whether the breadth and magnitude of immune response to SARS-CoV-2 infection is for short or long term. Objective: To test the persistence of humoral antibody responses after SARS-CoV-2 exposure in patients with different illness severity and among volunteers who had been vaccinated. Methods: This study was conducted in two Saudi Arabian tertiary hospitals. Participants were categorized as critically ill COVID-19 patients, non-critically ill COVID-19 patients, or vaccinated volunteers. We collected demographic data, COVID-19 exposure history, symptoms, vaccination details, and serum samples to analyze antibody persistence. We evaluated SARS-CoV-2 antibody concentrations in COVID-19 patients with varying disease severity and age groups, as well as in BNT162b2-vaccinated individuals, focusing on IgG levels against the S.FL and S1 domains of the spike protein. Results: The study included 172 adults: 92 unvaccinated hospitalized COVID-19 patients and 80 vaccinated volunteers. All vaccinated subjects demonstrated seropositivity to the SARS-CoV-2 spike protein, with nearly 80% having a median antibody titer of 13,500 AU/mL. Notably, vaccinated subjects exhibited significantly higher IgG levels than naturally infected patients (P < 0.001), including higher S.FL and S1 titers, regardless of severity. Age, comorbidities, and previous infections influenced S-specific antibody levels. Among hospitalized patients, 58% required intensive care, with 28- and 90-day mortality rates of 23% and 43%, respectively. Conclusion: These findings shed light on the immune response dynamics following SARS-CoV-2 infection compared to vaccinated individuals, where the latter showed significantly higher level of antibodies response, providing crucial insights for evaluating short-term herd immunity and the effectiveness of natural infection-induced immunity. [ABSTRACT FROM AUTHOR]

BackgroundSLC13A5 (solute carrier family 13, member 5) encodes sodium/citrate cotransporter, which mainly localizes in cellular plasma membranes in the frontal cortex, retina, and liver. Pathogenic variants of the gene cause an autosomal recessive syndrome known as “developmental and epileptic encephalopathy 25 with amelogenesis imperfecta.”ResultsHere, we have investigated six patients from three different consanguineous Saudi families. The affected individuals presented with neonatal seizures, developmental delay, and significant defects in tooth development. Some patients showed other clinical features such as muscle weakness, motor difficulties, intellectual disability, microcephaly, and speech problems in addition to additional abnormalities revealed by electroencephalography (EEGs) and magnetic resonance imaging (MRI). One of the MRI findings was related to cortical thickening in the frontal lobe. To diagnose and study the genetic defects of the patients, whole exome sequencing (WES) coupled with confirmatory Sanger sequencing was utilized. Iterative filtering identified two variants of SLC13A5, one of which is novel, in the families. Families 1 and 2 had the same insertion (a previously reported mutation), leading to a frameshift and premature stop codon. The third family had a novel splice site variant. Confirmatory Sanger sequencing corroborated WES results and indicated full segregation of the variants in the corresponding families. The patients’ conditions were poorly controlled by multiple antiepileptics as they needed constant care.ConclusionConsidering that recessive mutations are common in the Arab population, SLC13A5 screening should be prioritized in future patients harboring similar symptoms including defects in molar development.

Background: Hypoxanthine-guanine phosphoribosyltransferase (HPRT1) deficiency is an inborn error of purine metabolism responsible for Lesch–Nyhan syndrome (LNS). The disease is inherited in an X-linked recessive manner and predominantly affects male individuals. Female individuals can carry a mutation as heterozygotes, but typically, they are asymptomatic because of the random inactivation of the affected allele. Nevertheless, although rare, heterozygote female individuals may manifest LNS with full characteristics. Herein, we describe a female patient from Saudi Arabia with LNS.Results: The patient (a 4-year-old girl) presented with typical characteristics of the disease, which include global developmental delay, self-mutilation, hyperuricemia, hypotonia, speech delay, spasticity, and seizures. Her general biochemical laboratory results were normal except for high levels of uric acid. The abdominal MRI\MRS, mostly unremarkable, showed bilateral echogenic foci within the renal collecting system. Genetic testing (whole-exome sequencing, iterative variant filtering, segregation analysis, and Sanger sequencing) pointed a novel de novo frameshift variant in HPRT1. X-inactivation assay using HpaII showed the presence of a 100% skewed X chromosome carrying the affected allele. RT-PCR of the cDNA indicated complete loss of the expression of the normal allele.Conclusion: Our study presents a female patient who has a severe case of LNSand found to be the 15th female patient with the disease in the world. The study emphasizethe need for a streamlined protocol that will help an early and accurate diagnosis of female LNS patients to avoid unnecessary interventions that lead to costly patient care.

Abstract SLC25A42 is the main transporter of coenzyme A (CoA) into mitochondria. To date, 15 individuals have been reported to have one of two bi‐allelic homozygous missense variants in the SLC25A42 as the cause of mitochondrial encephalomyopathy, of which 14 of them were of Saudi origin and share the same founder variant, c.871A > G:p.Asn291Asp. The other subject was of German origin with a variant at canonical splice site, c.380 + 2 T > A. Here, we describe the clinical manifestations and the disease course in additional six Saudi patients from four unrelated consanguineous families. While five patients have the Saudi founder p.Asn291Asp variant, one subject has a novel deletion. Functional analyses on fibroblasts obtained from this patient revealed that the deletion causes significant decrease in mitochondrial oxygen consumption and ATP production compared to healthy individuals. Moreover, extracellular acidification rate revealed significantly reduced glycolysis, glycolytic capacity, and glycolytic reserve as compared to control individuals. There were no changes in the mitochondrial DNA (mtDNA) content of patient fibroblasts. Immunoblotting experiments revealed significantly diminished protein expression due to the deletion. In conclusion, we report additional patients with SLC25A42‐associated mitochondrial encephalomyopathy. Our study expands the molecular spectrum of this condition and provides further evidence of mitochondrial dysfunction as a central cause of pathology. We therefore propose that this disorder should be included in the differential diagnosis of any patient with an unexplained motor and speech delay, recurrent encephalopathy with metabolic acidosis, intermittent or persistent dystonia, lactic acidosis, basal ganglia lesions and, especially, of Arab ethnicity. Finally, deep brain stimulation should be considered in the management of patients with life altering dystonia.

Background: Iron–sulfur cluster assembly 2 (ISCA2) deficiency is linked to an autosomal recessive disorder known as multiple mitochondrial dysfunctions syndrome 4 (MMDS4). This disorder is characterized by leukodystrophy and neuroregression. Currently, most of the reported patients are from Saudi Arabia. All these patients carry a homozygous founder variant (NM_194279.2:c.229G>A:p.Gly77Ser) in ISCA2. Methods: We describe a patient who underwent full clinical evaluation, including metabolic, neurological, and radiological examinations. Standard genetic testing, including whole exome sequencing coupled with autozygome analysis, was undertaken, as were assessments of mitochondrial DNA (mtDNA) copy number and mtDNA sequencing on DNA extracted from blood and cultured fibroblasts. Functional workup consisted of splicing assessment of ISCA2 using RT-PCR, biochemical assessment of complex I status using dipstick assays, and mitochondrial respiration measurements using a Seahorse XFp analyzer. Results: We present the clinical and functional characterization of a novel homozygous ISCA2 missense variant (NM_194279.3:c.70A>G:p.Arg24Gly), leading to aberrant splicing in a patient presenting with neuroregression, generalized spasticity with exaggerated deep tendon reflexes and head lag, and progressive loss of acquired milestones. The novel variant was fully segregated in a wider family and was absent in a large control cohort, ethnically matching in-house exomes, local databases such as CGMdb and Saudi Human Genome Program, and ClinVar. Conclusions: Our analyses revealed that the variant is pathogenic, disrupting normal ISCA2 splicing and presumably leading to a truncated protein that disturbs metabolic pathways in patient-derived cells. [ABSTRACT FROM AUTHOR]

Introduction: Diet of an individual plays a remarkable role in maintaining health. Urbanization has had a great impact on the food habits of the society with the balance shifting to sweetened and refined food consumption. Dietary habits also has remarkable contribution to dental and overall health status. Aim: This study was designed to evaluate oral health awareness, practices, status, and the use of sugary products among urban and rural high school adolescents of Al-Ahsa, Saudi Arabia. Materials and methods: A cross-sectional mixed study was conducted using questionnaire and clinical examination among two female and two male urban and rural schools. Information on oral health awareness, practices, and use of sugar products were obtained using a self-reported structured questionnaire. Oral health status was assessed using decayed, missing, and filled teeth (DMFT) index, gingival index, Angle's classification at University dental clinics. The Chi-square test and t-test were performed using SPSS. Results and Discussion: Ninety-seven urban and one hundred and twenty-eight rural students with a median age of 17 years for males and 16 years for females completed the study. Eighty-five percent urban and 86% rural students demonstrated oral health awareness and practices, showing significant level for rural females (54%, P = 0.002) and urban females (72%, P = 0.006). Ninety-four percent urban and 89% of rural students used sugary products with a significant level for rural females (P = 0.001) for carbonated drinks only. Eighty-six percent of students had decayed, 22% missing and 38% filled teeth. Mean DMFT was 7.0 ± 4.7. Ninety-five (95%) participants showed mild-to-moderate gingivitis, 35% malocclusion, 11% other oral pathologies. Rural and urban difference for oral health parameters was significant only for filled teeth (P = 0.001) for urban and missing teeth (P = 0.019) among 15 years old for rural adolescents. Conclusion: This study demonstrates a good level of oral health awareness, but poor oral health status among both urban and rural students with an insignificant difference for most of the parameters studied.

Purpose The purpose of this study was to identify the optimal timing for screening spinal cord ultrasonography (US) to detect filum terminale lipoma in infants. Methods We retrospectively reviewed infants (

Abstract Background Homozygous frameshift mutation in RUBCN (KIAA0226), known to result in endolysosomal machinery defects, has previously been reported in a single Saudi family with autosomal recessive spinocerebellar ataxia (Salih ataxia, SCAR15, OMIM # 615705). The present report describes the clinical, neurophysiologic, neuroimaging, and genetic findings in a second unrelated Saudi family with two affected children harboring identical homozygous frameshift mutation in the gene. It also explores and documents an ancient founder cerebellar ataxia mutation in the Arabian Peninsula. Case presentation The present family has two affected males (aged 6.5 and 17 years) with unsteady gait apparent since learning to walk at 2.5 and 3 years, respectively. The younger patient showed gait ataxia and normal reflexes. The older patient had saccadic eye movement, dysarthria, mild upper and lower limb and gait ataxia (on tandem walking), and enhanced reflexes in the lower limbs. Cognitive abilities were mildly impaired in the younger sibling (IQ 67) and borderline in the older patient (IQ 72). Nerve conduction studies were normal in both patients. MRI was normal at 2.5 years in the younger sibling. Brain MRI showed normal cerebellar volume and folia in the older sibling at the age of 6 years, and revealed minimal superior vermian atrophy at the age of 16 years. Autozygome and exome analysis showed both affected have previously reported homoallelic mutation in RUBCN (NM_014687:exon18:c.2624delC:p.A875fs), whereas the parents are carriers. Autozygosity mapping focused on smallest haplotype on chromosome 3 and mutation age analysis revealed the mutation occurred approximately 1550 years ago spanning about 62 generations. Conclusions Our findings validate the slowly progressive phenotype of Salih ataxia (SCAR15, OMIM # 615705) by an additional family. Haplotype sharing attests to a common founder, an ancient RUBCN mutation in the Arab population.

The genetic architecture of mitochondrial disease continues to expand and currently exceeds more than 350 disease-causing genes. Bi-allelic variants in RTN4IP1, also known as Optic Atrophy-10 (OPA10), lead to early-onset recessive optic neuropathy, atrophy, and encephalopathy in the afflicted patients. The gene is known to encode a mitochondrial ubiquinol oxidoreductase that interacts with reticulon 4 and is thought to be a mitochondrial antioxidant NADPH oxidoreductase. Here, we describe two unrelated consanguineous families from the northern region of Saudi Arabia harboring a missense variant (RTN4IP1:NM_032730.5; c.475G

BackgroundLittle is known about the muscle condition in children with obesity.ObjectivesTo investigate the effect of obesity and fatty liver on muscle area and muscle fat in children and young adults.Materials and methodsWe evaluated consecutive liver fat quantification MRIs in children and young adults between June 2015 and April 2019. We obtained hepatic fat and paraspinal muscle fat at mid L2 from the fat map, psoas muscle area (PMA) at mid L3, and z-score of PMA. The patient's age, height and weight at the time of the MRI were recorded. Body mass index (BMI) z-score was also calculated. Spearman correlation and partial correlation analyses were performed. Univariate and multivariate regression analyses were also performed using significant variables.ResultsA total of 132 patients (97 male) were included with a median age of 13.0 years (interquartile range 11-16 years). The median BMI was 23.7 kg/m2 (interquartile range 21.2-27.7 kg/m2). The weight, BMI, liver fat, and z-score of PMA were all higher in male patients than they were in female patients. The amount of liver fat had no correlation with muscle fat or PMA z-score after adjusting BMI. However, the BMI z-score was positively correlated with the PMA z-score (ρ = 0.432, pConclusionsMale children and young adults have greater PMA than do female children and young adults. Obesity is associated with higher PMA and paraspinal muscle fat. However, liver fat is not related with the muscle condition in children and young adults.

PurposeThe aim of this study was to gather data from female students studying in both health and non-health colleges at Imam Abdulrahman Bin Faisal University and report the prevalence, reasons, and determinants of dietary supplements use.MethodsA month-long cross-sectional study was conducted in health and non-health colleges affiliated to Imam Abdulrahman Bin Faisal University in Dammam, Saudi Arabia. Convenient sampling was employed, and the data was gathered through an online survey using the English and Arabic versions of the Dietary Supplement Questionnaire (DSQ). The data was analyzed using SPSS version 23 and Medcalc. The study was approved by an ethics committee.ResultsData from 545 participants was collected. The overall prevalence of dietary supplement use was 32.7% (95% CI: 29.06%- 36.51%). The prevalence was 29.77% (95% CI: 25.29%- 34.56%) among students at all health colleges combined and, it was 37.50% (95% CI: 31.36%- 43.96%) among students at all non-health colleges. Most students used a brand product, spent a monthly cost of SAR 286 (USD 76.3) on supplements and agreed that supplements were good for health (N = 392, 71.9%). Students from non-health- colleges agreed that dietary supplements are good for health in greater numbers as compared to non-health college students (p < 0.001). Students aged ≥ 20 years, studying in a non-health college and up to 3rd year of study, were more 2 times more likely to agree that dietary supplements are good for health.ConclusionSupplements were commonly used among female students at this university however, it was quite low as compared to students from other local and regional universities. Prevalence was higher in non-health colleges as compared to health colleges and the most commonly used supplements were brand products and, multivitamins, used for general health and well-being. This highlights the inclination of students towards supplement use.

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. [ABSTRACT FROM AUTHOR]

Abstract Background Quick genetic diagnosis of a patient with congenital heart disease (CHD) is quite important for proper health care and management. Copy number variations (CNV), chromosomal imbalances and rearrangements have been frequently associated with CHD. Previously, due to limitations of microscope based standard karyotyping techniques copious CNVs and submicroscopic imbalances could not be detected in numerous CHD patients. The aim of our study is to identify cytogenetic abnormalities among the selected CHD cases (n = 17) of the cohort using high density oligo arrays. Results Our screening study indicated that six patients (~35%) have various cytogenetic abnormalities. Among the patients, only patient 2 had a duplication whereas the rest carried various deletions. The patients 1, 4 and 6 have only single large deletions throughout their genome; a 3.2 Mb deletion on chromosome 7, a 3.35 Mb deletion on chromosome 3, and a 2.78 Mb a deletion on chromosome 2, respectively. Patients 3 and 5 have two deletions on different chromosomes. Patient 3 has deletions on chromosome 2 (2q24.1; 249 kb) and 16 (16q22.2; 1.8 Mb). Patient 4 has a 3.35 Mb an interstitial deletion on chromosome 3 (3q13.2q13.31). Based on our search on the latest available literature, our study is the first inclusive array CGH evaluation on Saudi cohort of CHD patients. Conclusions This study emphasizes the importance of the arrays in genetic diagnosis of CHD. Based on our results the high resolution arrays should be utilized as first-tier diagnostic tool in clinical care as suggested before by others. Moreover, previously evaluated negative CHD cases (based on standard karyotyping methods) should be re-examined by microarray based cytogenetic methods.

OBJECTIVES:To investigate changes of fat in bone marrow (BM) and paraspinal muscle (PSM) associated with the degree of fatty liver in pediatric patients with non-alcoholic fatty liver disease (NAFLD) in consideration of age and body mass index (BMI). METHODS:Hepatic fat, BM fat, and PSM fat from proton density fat fraction of liver MRI between June 2015 and April 2019 were quantitatively evaluated on axial images of the fat map at the mid-level of T11-L2 vertebral bodies for BM fat and at the mid-level of L2 for PSM fat. Age, height, and weight at the time of MRI were recorded and BMI was calculated. Correlation analysis was performed. RESULTS:A total of 147 patients (114 male) were included with a mean age of 13.3 ± 2.9 years (range 7-18 years). The mean fat fractions were 24.3 ± 13.0% (2-53%) in liver, 37.4 ± 8.6% (17.3-56%) in vertebral BM, and 2.7 ± 1.1% (1.0-6.9%) in PSM. Age, height, weight, and BMI were not correlated with liver fat or BM fat. However, weight (ρ = 0.174, p = 0.035) and BMI (ρ = 0.247, p = 0.003) were positively correlated with PSM fat. Liver fat showed positive correlation with BM fat when adjusting age and BMI (ρ = 0.309, p

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Background. Filter clotting is frequent during continuous renal replacement therapy (CRRT), which increases anemia risk. We studied anemia and blood transfusion in critically ill patients requiring CRRT for acute kidney injury and assessed the relationship between CRRT filter life span and PRBC transfusion. Methods. A case-control study was conducted at a tertiary-care intensive care unit (ICU) where CRRT cases were matched with controls for age, gender, admission category, and severity of illness. Daily hemoglobin levels, blood transfusions, and life span of CRRT filter were noted. CCRT patients were categorized according to the median of the filter life span (20 hours). Results. Ninety-five cases and 102 controls were enrolled. The hemoglobin level on admission was similar in the two groups, yet cases had significantly lower hemoglobin levels than controls (72.8 ± 15.3 versus 82.5 ± 20.7 g/L, p