Syrian child carrying multiple pathogenic variants in MBOAT7 and MT-TS1 genes: a case report on neurodevelopmental phenotypes and mitochondrial inheritance.

Introduction: The authors identify two patterns of inheritance in a Syrian child from consanguineous parents. The membrane-bound O-acyltranferase domain-containing7 (MBOAT7) gene encodes Lysophosphatidylinositol acyltranferase (LPIAT1), which is responsible for the neurodevelopment of the brain cortex. Patients with MBOAT7 variants exhibit pathogenic nervous manifestations such as global developmental delays affecting speech and motor function, intellectual disability (ID), poor coordination, and seizures, with or without MRI abnormalities. MT_TS1, the mitochondrial tRNASer(UCN) gene, is a hotspot for pathogenic mutations causing variable mitochondrial phenotypes, including hearing impairment (HI), ataxia and cognitive impairment. Clinical presentation: The authors present a case of a 4-year-old child with motor and speech delay, truncal hypotonia, visual tic, poor coordination, autistic features and generalized seizures at 7 months of age. After normal results from lab tests and MRI imaging, along with the family's history of neurological disorders, genetic analysis was necessary to diagnose and assess the possibility of genetic counselling. Next-generation sequencing (NGS) showed two variable variants in the MBOAT7 and MT-TS1 genes. The first mutation is a homozygous variant of uncertain significance in the MBOAT7 gene, associated with the autosomal recessive Mental retardation type 57. The second variant is a heteroplasmic pathogenic variant in the MT-TS1 gene, indicative of mitochondrial disorders. Conclusion: The presence of the MBOAT7 and MT-TS1 gene variants in the same child is noteworthy. The authors must keep genetic mutations of MBOAT7 and MT-TS1 gene in mind as a differential diagnosis for intellectual disability, seizures and autistic features in children, especially in consanguineous families.

Implication of endoplasmic reticulum stress and mitochondrial perturbations in remote liver injury after renal ischemia/reperfusion in rats: potential protective role of azilsartan.

Objectives: Distant liver injury is a complication of renal ischemia-reperfusion (I/R) injury, which imposes mortality and economic burden. This study aimed to elucidate the cross-talk of endoplasmic reticulum (ER) stress and mitochondrial perturbations in renal I/R-induced liver injury, and the potential hepatoprotective effect of azilsartan (AZL).Methods: Male albino Wister rats were pre-treated with AZL (3 mg/kg/day, PO) for 7 days then a bilateral renal I/R or sham procedure was performed. Activities of liver enzymes were assessed in plasma. The structure and ultra-structure of hepatocytes were assessed by light and electron microscopy. Markers of ER stress, mitochondrial biogenesis and apoptosis were analyzed in livers of rats.Results: Renal ischemic rats showed higher plasma levels of liver enzymes than sham-operated rats, coupled with histological and ultra-structural alterations in hepatocytes. Mechanistically, there was up-regulation of ER stress markers and suppression of mitochondrial biogenesis-related proteins and enhanced apoptosis in livers of renal ischemic rats. These abnormalities were almost abrogated by AZL pretreatment.Discussion: Our findings uncovered the involvement of mitochondrial perturbations, ER stress and apoptosis in liver injury following renal I/R, and suggested AZL as a preconditioning strategy to ameliorate remote liver injury in patients susceptible to renal I/R after adequate clinical testing.

Prevalence and risk factors for metabolic syndrome in schizophrenia, schizoaffective, and bipolar disorder.

BACKGROUND: Metabolic Syndrome (MetS) is a risk for developing cardiovascular diseases and its prevalence is especially high in psychiatric patients. To date, there is limited data from the United Arab Emirates (UAE) on the prevalence of MetS. Therefore, we aimed to investigate its prevalence and possible risk factors in a large sample of psychiatric patients in the UAE. METHODS: A cross-sectional study was conducted at Al-Ain Hospital, in Al-Ain City, UAE. We collected demographic and clinical data on patients diagnosed with schizophrenia, schizoaffective, and bipolar affective disorder in the period between January 2017 and December 2020. This included their secondary diagnosis (psychiatric or medical), vital signs (heart rate, systolic and diastolic blood pressure, Body Mass Index [BMI]), metabolic parameters (fasting blood glucose, cholesterol, triglycerides, low-density lipoprotein, high-density lipoproteins), and prescribed medications. We used the American Association of Clinical Endocrinology (AACE) criteria to diagnose MetS. RESULTS: We included 889 subjects and of these, 79.8% (N = 709) had a BMI ≥25 kg/m2 and 9.8% (N = 87) had no abnormal metabolic parameters. Overall, 28.1% (N = 250) had MetS with no statistical difference between the three groups. Fasting blood glucose levels and abnormally elevated triglycerides were significant predictors for MetS. CONCLUSION: Our study found that around one in three patients had MetS irrespective of the three diagnoses. Some variables were significant predictors for MetS. Our findings were consistent with other studies and warrant the need for regular screening and management of abnormal metabolic parameters.

There is no statistical difference between schizophrenia, schizoaffective disorder, and bipolar disorder with regards to the prevalence of metabolic syndrome.Fasting blood glucose levels and abnormally elevated triglycerides were significant predictors of metabolic syndrome.Screening of metabolic parameters is important as well as the careful tailoring of the choice of antipsychotics.

Prevalence and correlates of generalized anxiety disorder and perceived stress among Sudanese medical students.

BACKGROUND: Generalized Anxiety Disorder (GAD) causes significant disturbance in an individual's well-being and activity. Whereby, interfering with the dynamic progress in life. Also, anxiety is a product of stress and a major predictor of academic performance. This study aimed to assess the prevalence of Generalized Anxiety Disorder (GAD), measure levels of anxiety and perceived stress, evaluate the academic profile, identify lifestyle characteristics, and explore the relationship between these factors. METHODS: In this cross-sectional study, 340 Sudanese medical students filled out online questionnaires, composed of the sociodemographic and lifestyle characteristics, academic profile, Generalized Anxiety Disorder-2 scale (GAD-2), and Perceived Stress Scale-10 (PSS-10). Descriptive and inferential statistics were applied using Statistical Package for Social Science (SPSS) Version 20.0 for data analysis. RESULTS: Of 340 medical students, 3.8% of them were diagnosed with GAD, while 29.1% scored ≥ 3 in GAD-2, indicating a possible diagnosis. The study found that 9.7% of the participants used addictive substances, with 42% of them having high GAD-2 scores. Moreover, high anxiety levels were associated with high-stress scores (p-value = 0.000). Also, high GAD-2 scores were significantly associated with students who spent less than 10,000 SDG (18 USD) weekly, spent more time on entertainment using smart devices (p-value = 0.004), and had an unhealthy diet (p-value = 0.004). Low anxiety levels were associated with better sleep quality (p-value = 0.00), satisfaction with religious practices (p-value = 0.00), and increased leisure/hobby time (p-value = 0.018). High-stress levels were observed in females (p-value = 0.035), those with lower academic performance satisfaction levels, and increased hours of smart device usage for entertainment (p-value = 0.001). Reduced stress levels were associated with being ≥ 23 years old, increased leisure/hobby time (p-value = 0.002), satisfaction with religious practices [F(3, 166.6) = 10.8, p-value = 0.00)], and having a healthy diet (p-value = 0.006). CONCLUSION: The low prevalence of GAD corresponded with previous literature, but 29.1% of medical students had a high probability of having GAD. The study emphasizes on providing accessible mental health services for medical students and interventions addressing modifiable risk factors.

Toxoplasma gondii Infection and ABO Blood Group Association Among Pregnant Sudanese Women: A Case Study.

Purpose: ABO blood group glycol-conjugate expression may influence human susceptibility to infection caused by Toxoplasma gondii. This study aimed to assess the relationship between blood group phenotypes as risk factors for toxoplasmosis and to correlate the prevalence of the disease with other risk factors. Materials and Methods: A total of two-hundred serum samples were collected from pregnant women referred for routine rotary examination in Rabak Teaching Hospital, White Nile State, Sudan, and examined for the parasite Toxoplasma gondii using the latex agglutination test. Results: The overall prevalence of toxoplasmosis in pregnant women (IgG positivity for T. gondii in the absence of IgM) was 41% (82/200). A higher prevalence of the infection was detected in women with blood group type AB 5 (55.6%) among the females in the AB blood group and the lowest in those with blood group type B 11 (35.5%). Those with a history of direct contact with cats reported the possibility of eating undercooked meat and soil-related potential risk factors (working in a garden with bare hands, eating unwashed vegetables and fresh fruits, poor handling of food) recorded 70 (82.4%), 59 (65.6%), 58 (77.3%), 73 (55.7%) and 70 (73.7%) of positive cases, respectively. Statistical analysis revealed a significant difference between Toxoplasma gondii infection and these risk factors. Conclusion: The study concluded that the ABO blood group system was not related to the absence or presence of anti-T. gondii antibodies in pregnant women in the study area. Contact with cat feces, raw meat consumption, and farming were identified as possible important risk factors for T. gondii infection within the study area.

Diagnostic Significance of hsa-miR-21-5p, hsa-miR-192-5p, hsa-miR-155-5p, hsa-miR-199a-5p Panel and Ratios in Hepatocellular Carcinoma on Top of Liver Cirrhosis in HCV-Infected Patients.

Early hepatocellular carcinoma (HCC) diagnosis is challenging. Moreover, for patients with alpha-fetoprotein (AFP)-negative HCC, this challenge is augmented. MicroRNAs (miRs) profiles may serve as potential HCC molecular markers. We aimed to assess plasma homo sapiens-(hsa)-miR-21-5p, hsa-miR-155-5p, hsa-miR-192-5p, and hsa-miR-199a-5p-expression levels as a panel of biomarkers for HCC in chronic hepatitis C virus (CHCV) patients with liver cirrhosis (LC), especially AFP-negative HCC cases, as a step toward non-protein coding (nc) RNA precision medicine. SUBJECTS AND METHODS: 79 patients enrolled with CHCV infection with LC, subclassified into an LC group without HCC (n = 40) and LC with HCC (n = 39). Real-time quantitative PCR was used to measure plasma hsa-miR-21-5p, hsa-miR-155-5p, hsa-miR-192-5p, and hsa-miR-199a-5p. RESULTS: Plasma hsa-miR-21-5p and hsa-miR-155-5p demonstrated significant upregulation, while hsa-miR-199a-5p demonstrated significant downregulation in the HCC group (n = 39) when compared to the LC group (n = 40). hsa-miR-21-5p expression was positively correlated with serum AFP, insulin, and insulin resistance (r = 0.5, p < 0.001, r = 0.334, p = 0.01, and r = 0.303, p = 0.02, respectively). According to the ROC curves, for differentiating HCC from LC, combining AFP with each of hsa-miR-21-5p, hsa-miR-155-5p, and miR199a-5p improved the diagnostic sensitivity to 87%, 82%, and 84%, respectively, vs. 69% for AFP alone, with acceptable specificities of 77.5%, 77.5%, and 80%, respectively, and AUC = 0.89, 0.85, and 0.90, respectively vs. 0.85 for AFP alone. hsa-miR-21-5p/hsa-miR-199a-5p and hsa-miR-155-5p/hsa-miR-199a-5p ratios discriminated HCC from LC at AUC = 0.76 and 0.71, respectively, with sensitivities = 94% and 92% and specificities = 48% and 53%, respectively. Upregulation of plasma hsa-miR-21-5p was considered as an independent risk factor for HCC development [OR = 1.198(1.063-1.329), p = 0.002]. CONCLUSIONS: Combining each of hsa-miR-21-5p, hsa-miR-155-5p, and hsa-miR-199a-5p with AFP made it possible to identify HCC development in the LC patients' cohort with higher sensitivity than using AFP alone. hsa-miR-21-5p/hsa-miR-199a-5p and hsa-miR-155-5p/hsa-miR-199a-5p ratios are potential HCC molecular markers for AFP-negative HCC patients. hsa-miR-21-5p was linked, clinically and via in silico proof, to insulin metabolism, inflammation, dyslipidemia, and tumorigenesis in the HCC patients' group as well as for an upregulated independent risk factor for the emergence of HCC from LC in the CHCV patients.

When It's Not Pancreatitis, Don't Brush It Off: A Case Report of Small Bowel Perforation Caused by a Grill Brush Bristle Masquerading As Pancreatitis.

Injuries caused by grill brush bristle ingestion have been documented in the literature, but most existing literature focuses on consumer safety and increasing public awareness of potential injuries. Small bowel perforation is a serious complication and often difficult to diagnose since symptoms are frequently nonspecific and bristle localization can be challenging. We highlight a case where a diagnosis of acute pancreatitis was initially made by computerized tomography (CT) imaging but was later determined to be small bowel perforation with magnetic resonance imaging (MRI).1 Due to its high resolution and excellent anatomic depiction of different pathologies, including inflammation and tumors, MRI is often used as an imaging modality when the cause of pancreatitis is not clear through initial history, physical exam, or imaging modalities like ultrasound and CT scan. MRI provides an opportunity to detect pathologies that cannot be depicted by CT because of its high contrast resolution (though conversely, CT has a higher spatial resolution, so there are some cases in which it can detect things that MRI cannot). This case highlights the importance of considering MRI to diagnose and evaluate complications in suspected cases of wire bristle ingestion prior to endoscopic or surgical extraction.

State-of-the-Art Analytical Approaches for Illicit Drug Profiling in Forensic Investigations.

In forensic chemistry, when investigating seized illicit drugs, the profiling or chemical fingerprinting of drugs is considered fundamental. This involves the identification, quantitation and categorization of drug samples into groups, providing investigative leads such as a common or different origin of seized samples. Further goals of drug profiling include the elucidation of synthetic pathways, identification of adulterants and impurities, as well as identification of a drug's geographic origin, specifically for plant-derived exhibits. The aim of this state-of-art-review is to present the traditional and advanced analytical approaches commonly followed by forensic chemists worldwide for illicit drug profiling. We discussed numerous methodologies for the physical and chemical profiling of organic and inorganic impurities found in illicit drug. Applications of powerful spectroscopic and chromatographic tools for illicit drug profiling including isotope-Ratio mass spectrometry (IRMS), gas chromatography-mass spectrometry (GC-MS), gas chromatography-isotope ratio mass spectrometry (GC-IRMS), ultra-high-performance liquid chromatography (UHPLC), thin layer chromatography (TLC), liquid chromatography-mass spectrometry (LC-MS) and inductively coupled plasma-mass spectrometry (ICP-MS) were discussed. Altogether, the techniques covered in this paper to profile seized illicit drugs could aid forensic chemists in selecting and applying a suitable method to extract valuable profiling data.

Considerations for restorative dentistry secondary care referrals - part 3: assessment of case complexity.

Assessing the complexity of a case is a challenging exercise, with many tooth-specific as well as patient-specific considerations required. This decision is not made in isolation but goes hand in hand with the assessment of restorability, as well as strategic importance, both of which have been covered by the previous papers in this series. A number of guidelines regarding this matter have been devised in order to aid clinicians in determining the complexity of their patients and thus the most appropriate setting for their treatment. This paper aims to discuss the various complexity criteria available and their application, thus aiding clinicians in managing some of the more challenging cases.

Considerations for restorative dentistry secondary care referrals - part 1: defining strategic importance.

Strategic importance is an essential concept for dental service providers. It allows clinicians to differentiate treatment needs on both a patient level and a health care commissioning level, not simply based upon complexity alone. On a patient level, it influences both the clinician's and patient's decision as to whether a tooth/teeth should be restored, as well as determining the possible need for specialist input. On a commissioning level, it facilitates the prioritisation of limited resources.Strategic importance can be considered at a patient level, taking into factors such as age, tolerance to treatment and the patient's choice. It can also be considered at a mouth level, accounting for factors such as its impact on function and aesthetics function. All these factors together can influence the decision as to whether complex treatment is warranted on a given tooth, especially in a healthcare model where the allocation of limited resources is necessary.

Considerations for restorative dentistry secondary care referrals - part 2: predictability of treatment.

The assessment of restorability is necessary to determine whether it is possible to predictably restore a tooth once primary disease has been managed.There are a multitude of factors that may determine the restorability of a tooth. It varies on a case-by-case basis and as such, clinicians must consider both local tooth factors and general patient-related factors, ensuring a holistic approach when assessing these patients.This article discusses the many factors that determine a tooth's restorability, including a review of the current indices available to clinicians to aid in this process.

Clinical value of soluble urokinase type plasminogen activator receptors in chronic kidney disease.

Chronic kidney disease (CKD) will progress to end stage without treatment, the decline off renal function may not linear. A sensitive marker such as soluble urokinase-type plasminogen activator receptors (suPARs) may allow potential intervention and treatment in earlier stages of CKD. OBJECTIVES: This study was designed to measure plasma (suPAR) in patients with CKD with different stages and to find its correlation with the disease severity. METHODS: This study was conducted on 114 subjects, 84 were patients with different stages and different causes of CKD, and 30 healthy subjects as controls. Blood urea, serum creatinine, serum high-sensitive C-reactive protein, estimated glomerular filtration rate, and 24 hours proteinuria were measured, renal biopsy was done for all patients, and plasma (suPAR) was measured using enzyme-linked immunosorbent assay. RESULTS: suPAR plasma levels were significantly higher in patients with CKD (7.9 ±â€Š3.82 ng/mL) than controls (1.76 ±â€Š0.77 ng/mL, P < .001). suPAR correlated with the disease severity. In stage 1 to 2 group, it was 3.7 ±â€Š1.5 ng/mL, in stage 3 to 4, it was 10.10 ±â€Š1.22 ng/mL, and in stage 5 group, it was 12.34 ±â€Š0.88 ng/mL; the difference between the 3 groups was highly significant (P < .001). A cutoff point 2.5 ng/mL of suPAR was found between controls and stage 1 group. According to the cause of CKD, although patients with obstructive cause and those with focal glomerulosclerosis had the higher levels 9.11 ±â€Š3.32 ng/mL and 8.73 ±â€Š3.19 ng/mL, respectively, but there was no significant difference between patients with CKD according to the cause of the CKD. CONCLUSION: Plasma (suPAR) increased in patients with CKD and correlated with disease severity.

Frequency and Predisposing Factors for Drug-Induced Hypoglycemia in Patients with Type-2 Diabetes Mellitus.

OBJECTIVE: Hypoglycemia is the most common complication of the treatment for diabetes mellitus. Various factors predispose an individual for drug-induced hypoglycemia. The aim of this study was to explore the relative frequency and likely predisposing factors for drug-induced hypoglycemia among type-2 diabetic patients in the United Arab Emirates (UAE). METHODS: In this cross-sectional survey-based study which was conducted from February to April 2018 in two local community pharmacies in the UAE, diabetic patients underwent a structured interview on their diabetes mellitus status and management and specific open-ended questions related to hypoglycemic symptoms that they might have experienced and the occurrence of symptoms. Collected data were used to estimate the relative frequency of drug-induced hypoglycemia and to identify the probable predisposing factors and their contribution in causing hypoglycemia using relative risk, Chi-square test, and Fisher's exact test. FINDINGS: The relative frequency of drug-induced hypoglycemia in our study was 46.25%. Patients' age of ≥65 years, duration of diabetes mellitus for more than 1 year, patients with more than one comorbid condition, and patients using more than one antidiabetic medication were predisposing for developing drug-induced hypoglycemia. CONCLUSION: The relative frequency of drug-induced hypoglycemia in a nontrial environment which lacks the special cares routinely provided in drug development clinical trials is high. We suggest that more attention should be paid to identify, prevent, and manage drug-induced hypoglycemia in type-2 diabetic patients who have more than 1 year of diabetes, more than one comorbidity, using more than one antidiabetic medication, and elderly.

Infective endocarditis and the heavily restored dentition: are clinicians becoming more complacent regarding prevention?

The use of antibiotic prophylaxis to reduce the risk of infective endocarditis (IE) in susceptible individuals is a topic which has historically prompted many controversial debates. In the past, dentists have been understandably unwilling to prescribe antibiotic prophylaxis for fear of deviating from the National Institute for Health and Care Excellence (NICE) guidelines. However, in 2016, NICE altered the wording of these guidelines. The subtle change in wording implied that the clinician could use their clinical judgement, alongside advice from cardiologists, to deem their patient high-risk enough to prescribe antibiotics. In this article we discuss the implications of the NICE guidelines, and present the case of a patient who historically received antibiotic prophylaxis due to a history of rheumatic fever. Following the old NICE guidelines of 2008 he no longer received this prescription. As a consequence, he went on to suffer from IE from an unexpected cause due to ineffective preventative advice.

Ethnobotanical investigation on medicinal plants in Algoz area (South Kordofan), Sudan.

BACKGROUND: The inhabitants of western Sudan use traditional medicine for the treatment of various ailments due to lack of medical doctors and unaffordable prices of pharmaceutical products. The present study is the first documentation of the traditional plant knowledge on medicinal uses of plants by healers in Algoz (South Kordofan), Sudan. METHOD: Ethnobotanical data were collected over a period from March to November 2015 using semi-structured interviews with 30 healers (24 male and 6 female) living in the investigated area. Quantitative indices such as use categories, use value (UV) and informant consensus factor (ICF) were intended to evaluate the importance of medicinal plant species. RESULTS: A total of 94 medicinal plants, which belong to 45 families and 81 genera, were recorded in the study area. The most represented families are Leguminosae with 20 species followed by Combretaceae (6 species), Rubiaceae (5 species) and Asteraceae (4 species). The reported species were belonging to herbs (43%), trees (28%), shrubs (22%), climbers (4%) and parasites (3%). Root and stem (21% each) were the most plant parts used. A majority of remedies are administered orally (67%) where infusion (36%) and maceration (32%) are the most used methods. The highest ICF (0.87) was reported for poisonous animal bites followed by urinary system diseases (0.89), blood system disorders (0.88) and gynaecological diseases (0.87). Anastatica hierochuntica, Ctenolepis cerasiformis, Echinops longifolius, Cleome gynandra, Maerua pseudopetalosa, Martynia annua, Oldenlandia uniflora, Opuntia ficus-indica, Solanum dubium, Sonchus cornutus, Tribulus terrestris and Drimia maritima were reported for the first time in this study. CONCLUSION: The number of medicinal plants reported in this paper reflects evidence that Algoz area had a high diversity of medicinal plants which will continue to play an important role in the healthcare system in the study area.

Thermodynamics analysis of refinery sludge gasification in adiabatic updraft gasifier.

Limited information is available about the thermodynamic evaluation for biomass gasification process using updraft gasifier. Therefore, to minimize errors, the gasification of dry refinery sludge (DRS) is carried out in adiabatic system at atmospheric pressure under ambient air conditions. The objectives of this paper are to investigate the physical and chemical energy and exergy of product gas at different equivalent ratios (ER). It will also be used to determine whether the cold gas, exergy, and energy efficiencies of gases may be maximized by using secondary air injected to gasification zone under various ratios (0, 0.5, 1, and 1.5) at optimum ER of 0.195. From the results obtained, it is indicated that the chemical energy and exergy of producer gas are magnified by 5 and 10 times higher than their corresponding physical values, respectively. The cold gas, energy, and exergy efficiencies of DRS gasification are in the ranges of 22.9-55.5%, 43.7-72.4%, and 42.5-50.4%, respectively. Initially, all 3 efficiencies increase until they reach a maximum at the optimum ER of 0.195; thereafter, they decline with further increase in ER values. The injection of secondary air to gasification zone is also found to increase the cold gas, energy, and exergy efficiencies. A ratio of secondary air to primary air of 0.5 is found to be the optimum ratio for all 3 efficiencies to reach the maximum values.