Laser-Induced Synthesis of Tin Sulfides.

Various polytypes of van der Waals (vdW) materials can be formed by sulfur and tin, which exhibit distinctive and complementary electronic properties. Hence, these materials are attractive candidates for the design of multifunctional devices. This work demonstrates direct selective growth of tin sulfides by laser irradiation. A 532 nm continuous wave laser is used to synthesize centimeter-scale tin sulfide tracks from single source precursor tin(II) o-ethylxanthate under ambient conditions. Modulation of laser irradiation conditions enables tuning of the dominant phase of tin sulfide as well as SnS2/SnS heterostructures formation. An in-depth investigation of the morphological, structural, and compositional characteristics of the laser-synthesized tin sulfide microstructures is reported. Furthermore, laser-synthesized tin sulfides photodetectors show broad spectral response with relatively high photoresponsivity up to 4 AW-1 and fast switching time (τ rise = 1.8 ms and τ fall = 16 ms). This approach is versatile and can be exploited in various fields such as energy conversion and storage, catalysis, chemical sensors, and optoelectronics.

INF2-mediated actin polymerization at ER-organelle contacts regulates organelle size and movement.

Proper regulation of organelle dynamics and inter-organelle contacts is critical for cellular health and function. Both the endoplasmic reticulum (ER) and actin cytoskeleton are known to regulate organelle dynamics, but how, when, and where these two subcellular components are coordinated to control organelle dynamics remains unclear. Here, we show that ER-associated actin consistently marks mitochondrial, endosomal, and lysosomal fission sites. We also show that actin polymerization by the ER-anchored isoform of the formin protein INF2 is a key regulator of the morphology and mobility of these organelles. Together, our findings establish a mechanism by which INF2-mediated polymerization of ER-associated actin at ER-organelle contacts regulates organelle dynamics.

A case report of MoCD etiology in a neonate: A novel homozygous MoCS2 variant.

Key Clinical Message: Molybdenum cofactor deficiency is a rare and fatal genetic disorder. Due to recurrence in the family, the etiological diagnosis could have impacted family planning and alertness to future offspring. Abstract: Molybdenum cofactor deficiency (MoCD) is a rare and fatal genetic disorder that impairs molybdenum-dependent enzymes, resulting in conspicuous elevated urine sulfite levels and lowered serum uric acid levels. The disorder may be early-onset, causing high fatality in neonates due to secondary complications, or late-onset, manifesting in the first 2 years of life. Severe seizures, progressive neurological degeneration, motor abnormalities, and feeding difficulties are hallmarks of MoCD. Due to the similarity of clinical findings with those of sulfite oxidase deficiency and its neurological findings with hypoxic-ischemic encephalopathy, determining the true etiology remains challenging in MoCD patients. This case report presents a neonate in the first week of life with early onset refractory seizures, motor abnormalities, hypoactivity, and poor feeding behavior. Administering anti-epileptic drugs did not improve the patient's condition, who started decompensating further. Nevertheless, a thorough screening for metabolic disorders revealed low serum uric acid and high sulfite levels in the urine, indicating potential MoCD. A whole exome sequencing (WES) was thus consulted for confirmatory diagnosis. Unfortunately, the patient's WES results were received after his demise, revealing MoCD caused by a novel variant of the MoCS2 gene that has not yet been reported to the best of our knowledge. This case emphasizes the need to disseminate crucial information regarding MoCD and its etiologies for prompt molecular diagnosis to reduce morbidity and mortality.

Cytogenomic description of a Mexican cohort with differences in sex development.

BACKGROUND: Differences in Sex Development (DSD) is a heterogeneous group of congenital alterations that affect inner and/or outer primary sex characters. Although these conditions do not represent a mortality risk, they can have a severe psycho-emotional impact if not appropriately managed. The genetic changes that can give rise to DSD are diverse, from chromosomal alterations to single base variants involved in the sexual development network. Epidemiological studies about DSD indicate a global frequency of 1:4500-5500, which can increase to 1:200-300, including isolated anatomical defects. To our knowledge, this study is the first to describe epidemiological and genetic features of DSD in a cohort of Mexican patients of a third-level care hospital. METHODS: Descriptive and retrospective cross-sectional study that analyzed DSD patients from 2015 to 2021 attended a Paediatric Hospital from Mexico City. RESULTS: One hundred one patients diagnosed with DSD were registered and grouped into different entities according to the Chicago consensus statement and the diagnosis defined by the multidisciplinary group. Of the total, 54% of them belong to the chromosomal DSD classification, 16% belongs to 46, XX and 30% of them belongs to the 46, XY classification. CONCLUSION: The frequency for chromosomal DSDs was consistent with the literature; however, we found that DSD 46, XY is more frequent in our cohort, which may be due to the age of the patients captured, the characteristics of our study population, or other causes that depend on the sample size.

Zinc Oxide Nanoparticles Attenuated Neurochemical and Histopathological Alterations Associated with Aluminium Chloride Intoxication in Rats.

The present investigation explored the potential neuroprotective role of zinc oxide nanoparticles (ZnONPs) on aluminum chloride (AlCl3)-mediated Alzheimer's disease (AD)-like symptoms. Rats were distributed into four treatment groups equally: control, ZnONPs (4 mg/kg b.wt.), AlCl3 (100 mg/kg b.wt.), and ZnONPs + AlCl3 groups. Rats were treated for 42 consecutive days. ZnONPs injection into AlCl3-treated rats suppressed the development of oxidative challenge in the cortical and hippocampal tissues, as demonstrated by the decreased neuronal pro-oxidants (malondialdehyde and nitric oxide), and the increased glutathione and catalase levels. Additionally, ZnONPs injection showed anti-inflammatory potency in response to AlCl3 by decreasing levels of tumor necrosis factor-α and interleukin-1ß. Moreover, pretreatment with ZnONPs prevented neuronal cell loss by decreasing the level of pro-apoptotic caspase-3 and enhancing the anti-apoptotic B cell lymphoma 2. Furthermore, ZnONPs ameliorated the disturbed acetylcholinesterase activity, monoamines (norepinephrine, dopamine, and serotonin), excitatory (glutamic and aspartic acids), and inhibitory amino acids (GABA and glycine) in response to AlCl3 exposure. These findings indicate that ZnONPs may have the potential as an alternative therapy to minimize or prevent the neurological deficits in AD model by exhibiting antioxidative, anti-inflammation, anti-apoptosis, and neuromodulatory effects.

Association of the systemic immune-inflammation index (SII) and severity of diabetic ketoacidosis in patients with type 1 diabetes mellitus: a retrospective cohort study.

Background: Diabetic ketoacidosis (DKA) is the most serious metabolic complication of type 1 diabetes mellitus (T1DM). Insulin deficiency and inflammation play a role in the pathogenesis of DKA. The authors aimed to assess the systemic immune-inflammation index (SII) as a marker of severity among T1DM patients with DKA and without infection. Methods: The authors included T1DM patients older than or equal to 12 years hospitalized because of DKA. The authors excluded patients with infection or any condition that can change SII parameters or cause metabolic acidosis. The authors compared SII, neutrophil-lymphocyte ratio (NLR), and platelet-lymphocyte ratio (PLR) between severe and non-severe DKA groups. The authors also assessed the need for an ICU, length of stay, and 90-day readmission rate between the groups. Results: The study included 241 patients with a median age of 17 (14, 24) years, and 44.8% were males. More patients with severe DKA (45%) required ICU admission (P<0.001). Median SII increased with DKA severity, and the difference was significant (P=0.033). No significant difference was observed as regards median NLR or PLR (P=0.380 and 0.852, respectively). SII, but not NLR or PLR, had a significant negative correlation with PH (r=-0.197, P=0.002) and HCO3 level (r=-0.144, P=0.026). Also, being in the highest SII quartile was an independent risk factor for DKA severity (OR, 2.522; 95% CI, 1.063-6.08; P=0.037). The authors estimated an SII cut-off value of 2524.24 to predict DKA severity with high specificity. Conclusion: Elevated SII is a risk factor for DKA severity in T1DM. It is better than NLR and PLR in prognosticating DKA patients. These findings highlight the role of inflammation in DKA. SII can help as a valuable and simple tool to assess DKA severity.

Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.

Biallelic variants in SUMF1 are associated with multiple sulfatase deficiency (MSD), a rare lysosomal storage disorder typically diagnosed in early infancy or childhood, marked by severe neurodegeneration and early mortality. We present clinical and molecular characterisation of three unrelated patients aged 13 to 58 years with milder clinical manifestations due to SUMF1 disease variants, including two adult patients presenting with apparent non-syndromic retinal dystrophy. Whole genome sequencing identified biallelic SUMF1 variants in all three patients; Patient 1 homozygous for a complex allele c.[290G>T;293T>A]; p.[(Gly97Val);(Val98Glu)], Patient 2 homozygous for c.866A>G; p.(Tyr289Cys), and Patient 3 compound heterozygous for c.726-1G>C and p.(Tyr289Cys). Electroretinography indicated a rod-cone dystrophy with additional possible inner retinal dysfunction in all three patients. Biochemical studies confirmed reduced, but not absent, sulfatase enzyme activity in the absence of extra-ocular disease (Patient 1) or only mild systemic disease (Patients 2, 3). These cases are suggestive that non-null SUMF1 genotypes can cause an attenuated clinical phenotype, including retinal dystrophy without systemic complications, in adulthood.

Brace-related Stress and Quality of Life Parameters between Chêneau and Boston Braces: A Cross-sectional Comparative Study on Adolescent Idiopathic Scoliosis in Saudi Arabia.

OBJECTIVE: Adolescent idiopathic scoliosis (AIS) is the most prevalent spinal deformity affecting healthy children. Although AIS typically lacks symptomatic manifestations, its resultant deformities can affect patients' quality of life (QoL). Evaluating QoL and stress levels is crucial in determining the optimal brace type for AIS patients; however, research comparing the effectiveness of different brace types in this regard is lacking. Therefore, this study aimed to evaluate the impact of Boston versus Chêneau braces on QoL and stress levels in AIS patients. METHODS: This cross-sectional study was conducted at a medical institution in Riyadh, Saudi Arabia, involving 52 eligible patients selected through stratified random sampling based on type of brace as the main stratum. The inclusion criteria were idiopathic scoliosis, age ≥ 10 years, bracing for at least 3 months, and no history of cancer. QoL was evaluated according to the revised Scoliosis Research Society 22-item questionnaire (SRS-22r) and stress levels according to the eight-item Bad Sobernheim stress questionnaire (BSSQ-Brace). Independent-sample t-tests were used to compare brace-related QoL and stress level according to participants' sex and brace type. RESULTS: Overall, 32 participants were treated with Boston braces (seven men and 25 women), with a median (IQR) age of 11.00 years (10.00-13.00), and 20 participants were treated with Chêneau braces (three men, 17 women), with a median (IQR) age of 12.50 years (10.00-14.25). The total SRS-22 score was not significantly different between the brace groups (p = 0.158). However, patients in the Boston brace group reported significantly higher satisfaction levels (median = 4.00, IQR = 3.50-4.50) than did those in the Chêneau brace group (median = 3.25, IQR = 2.38-4.13, p = 0.013, moderate effect size = 0.345, 95% CI = 0.060 to 0.590). Furthermore, the BSSQ-brace total score was significantly higher in the Boston brace group (median = 9.00, IQR = 8.00-12.00) than in the Chêneau brace group (median = 7.50, IQR = 4.75-10.00, p = 0.007, moderate effect size = 0.376, 95% CI = 0.130 to 0.590), indicating higher stress levels in the Chêneau brace group. CONCLUSION: The QoL in AIS patients undergoing brace treatment was comparable across groups. Nonetheless, patients who used Chêneau braces experienced higher stress levels and lower treatment satisfaction rates than did those who used Boston braces. These findings can inform clinical decisions regarding prescription of bracing types and highlight the need for further in-depth research.

The Impact of Mask-Wearing on Allergic Rhinitis Symptoms During the COVID-19 Pandemic Among the Saudi Population: A Cross-Sectional Study.

BACKGROUND: Allergic rhinitis (AR) is an inflammatory disease of the nasal mucosa caused by certain allergens that may be found indoors or outdoors, and it greatly impacts the patient's quality of life. The COVID-19 epidemic offers an excellent chance to examine how using a face mask affects allergy. AIM: The present study aimed to evaluate the impact of face mask wearing on AR symptoms among subjects living in the northern, southern, eastern, western, and central regions of Saudi Arabia. SUBJECTS AND METHODS: This cross-sectional, survey-based study was undertaken in all Saudi Arabia regions in 2022. We included female and male adults living in Saudi Arabia who have AR and completed the Arabic version of an electronic self-administered questionnaire. RESULTS: The overall received responses were 2252. According to the study eligibility criteria, we assessed the data of 470 participants who self-reported to have been diagnosed with AR. There was no significant change in the proportions of nasal symptoms severity before and after wearing face masks during the pandemic (p = 0.867), while a significant negative change was observed in the rates of moderate and severe ophthalmic symptoms (p < 0.001). The need for AR drugs was significantly increased during the pandemic (no need for drugs was reported by 45.3% before the pandemic and by 37.9% during the pandemic, p < 0.001). However, the use of AR drugs was significantly associated with the improvement of AR symptoms (p < 0.001); complete and partial eliminations of AR symptoms were higher with the use of masks during the pandemic (11.3% and 36.8%) than before the pandemic period (10.6% and 34.5%). CONCLUSIONS: Face mask usage was not associated with improved symptoms or severity of AR. Wearing the masks was associated with increased severity of ophthalmic symptoms. The use of face masks was associated with a significant increase in the partial and complete elimination of AR symptoms with the use of AR drugs, particularly with the constant use of masks.

The effects of omega-3, DHA, EPA, Souvenaid® in Alzheimer's disease: A systematic review and meta-analysis.

BACKGROUND: Alzheimer's disease (AD) is the most common cause of dementia worldwide. Omega-3 fatty acids (n-3-PUFA) are essential to normal neural development and function. Souvenaid®, a medical supplement that contains n-3-PUFA's: eicosatetraenoic acid (EPA) and docosahexaenoic acid (DHA), has emerged as an alternative, slowing cognitive decline in AD patients. In this study, we investigated the effect of dietary supplementation with n-3-PUFA, EPA, DHA, and Souvenaid® in AD patients. AIM: This systematic review and meta-analysis aim to establish the relationship between n-3-PUFA, EPA, DHA, and Souvenaid® with cognitive effects, ventricular volume and adverse events in AD patients. METHODS: A systematic search of randomized control trials (RCT), cohorts, and case-control studies was done in PubMed, Scopus, Web of Science, Cochrane, and Embase for AD adult patients with dietary supplementation with n-3-PUFA, EPA, DHA, or Souvenaid® between 2003 and 2024. RESULTS: We identified 14 studies with 2766 subjects aligned with our criteria. Most publications described positive cognitive outcomes from supplements (58%). The most common adverse events reported were gastrointestinal symptoms. CDR scale showed reduced progression of cognitive decline (SMD = -0.4127, 95% CI: [-0.5926; -0.2327]), without subgroup differences between different dietary supplement interventions. ADCS-ADL, MMSE, ADAS-cog, adverse events, and ventricular volume did not demonstrate significant differences. However, Souvenaid® showed a significant negative effect (SMD = -0.3593, 95% CI: -0.5834 to -0.1352) in ventricular volumes. CONCLUSIONS: The CDR scale showed reduced progression of cognitive decline among patients with n-3-PUFA supplemental interventions, with no differences between different n-3-PUFA supplements.

Novel de novo heterozygous CACNA1A gene variant in generalised dystonia: a case report.

Background: Dystonia is a genetic or non-genetic movement disorder with typical patterned and twisting movements due to abnormal muscle contractions that may be associated with tremor. Genetic and phenotypic heterogeneity leads to variable clinical presentation. Methodology: Next-generation sequencing technologies are being currently used in the workup of patients with inherited dystonia to determine the specific cause in the individuals with autosomal dominant, recessive, X-linked or mitochondrial inheritance patterns. Calcium voltage-gated channel subunit alpha1 A (CACNA1A) gene variants are rare in dystonias. Results: We here present a 20-year-old man with a history of delayed milestones, flexor posturing, dysarthria, dysphagia and a negative family history from consanguineous parents. Neurological examination revealed right lateral scoliosis of the neck and generalised dystonic posturing affecting both upper and lower limbs. MRI of the brain was unremarkable. Molecular genetic results revealed a heterozygous variant in the CACNA1A gene (CHR19: NM_023035.2, c. 1602G>A; p. Met534Ile). Segregation analyses in both the parents revealed wild-type CACNA1A gene suggesting de novo nature of the variant with a likely pathogenic classification. Conclusion: Dystonia is one of the clinical phenotypes that can be associated with CACNA1A gene mutations and we recommend that this gene either be included in the dystonia panel offered or tested when the initial primary genetic result is negative.

Attitudes toward colorectal cancer and colonoscopy in Palestine: a questionnaire-based study.

Colorectal cancer (CRC) is a frequent cause of cancer-related mortality in the Palestinian population. This cross-sectional study was conducted from July 2019 to March 2020 and examined attitudes toward CRC and colonoscopy, as well as the interplay between both. Participants were recruited using convenience sampling from public spaces, governmental hospitals, and primary healthcare centers across 11 governorates in Palestine. Displaying a positive attitude was defined as agreeing on at least the median number of questions related to CRC (5 of 11 questions) or colonoscopy (6 of 10 questions). A total of 4623 participants were included. Most participants agreed that 'early detection of CRC increases the possibility of more effective treatment' (n = 4161, 89.7%). Similarly, the majority of participants agreed on 'preferring a physician with a gender similar to the participants to perform the colonoscopy' (n = 3738, 80.9%) and 'willingness to have colonoscopy even if the participant had to pay for it' (n = 3727, 80.6%). Furthermore, 3115 participants (67.4%) demonstrated positive attitudes toward CRC, while 2540 participants (55.0%) displayed similar attitudes toward colonoscopy. Participants from the West Bank and Jerusalem were more likely than those from the Gaza Strip to display positive attitudes toward colonoscopy (59.2% vs. 48.9%). Participants with positive attitudes toward CRC were more likely to also display positive attitudes toward colonoscopy and vice versa. About two thirds of study participants exhibited positive attitudes toward CRC, and 55.0% displayed positive attitudes toward colonoscopy. There was a reciprocal relationship between having positive attitudes toward CRC and colonoscopy.

Anti-depressant effect of Naringenin-loaded hybridized nanoparticles in diabetic rats via PPARγ/NLRP3 pathway.

Naringenin (NAR) has various biological activities but low bioavailability. The current study examines the effect of Naringenin-loaded hybridized nanoparticles (NAR-HNPs) and NAR on depression induced by streptozotocin (STZ) in rats. NAR-HNPs formula with the highest in vitro NAR released profile, lowest polydispersity index value (0.21 ± 0.02), highest entrapment efficiency (98.7 ± 2.01%), as well as an acceptable particle size and zeta potential of 415.2 ± 9.54 nm and 52.8 ± 1.04 mV, respectively, was considered the optimum formulation. It was characterized by differential scanning calorimetry, examined using a transmission electron microscope, and a stability study was conducted at different temperatures to monitor its stability efficiency showing that NAR-HNP formulation maintains stability at 4 °C. The selected formulation was subjected to an acute toxicological test, a pharmacokinetic analysis, and a Diabetes mellitus (DM) experimental model. STZ (50 mg/kg) given as a single i.p. rendered rats diabetic. Diabetic rat groups were allocated into 4 groups: one group received no treatment, while the remaining three received oral doses of unloaded HNPs, NAR (50 mg/kg), NAR-HNPs (50 mg/kg) and NAR (50 mg/kg) + peroxisome proliferator-activated receptor-γ (PPAR-γ) antagonist, GW9662 (1mg/kg, i.p.) for three weeks. Additional four non-diabetic rat groups received: distilled water (normal), free NAR, and NAR-HNPs, respectively for three weeks. NAR and NAR-HNPs reduced immobility time in forced swimming test and serum blood glucose while increasing serum insulin level. They also reduced cortical and hippocampal 5-hydroxyindoeacetic acid, 3,4-Dihydroxy-phenylacetic acid, malondialdehyde, NLR family pyrin domain containing-3 (NLRP3) and interleukin-1beta content while raised serotonin, nor-epinephrine, dopamine and glutathione level. PPAR-γ gene expression was elevated too. So, NAR and NAR-HNPs reduced DM-induced depression by influencing brain neurotransmitters and exhibiting anti-oxidant and anti-inflammatory effects through the activation PPAR-γ/ NLRP3 pathway. NAR-HNPs showed the best pharmacokinetic and therapeutic results.

A Long-Term Retrospective Natural History Study of EFEMP1-Associated Autosomal Dominant Drusen.

Purpose: To analyze the natural history of EFEMP1-associated autosomal dominant drusen (ADD). Methods: In this retrospective observational study of molecularly confirmed patients with ADD, data and retinal imaging were extracted from an in-house database. The main outcome measurements were best-corrected visual acuity (BCVA), refraction, and retinal imaging, including quantitative analyses of the outer nuclear layer (ONL) thickness and pigmented epithelium detachment area, as well as qualitative analyses. Results: The study included 44 patients (34 females and 10 males). The mean ± SD age of symptom onset was 40.1 ± 6.59 years of age (range, 25-52). Fourteen patients were asymptomatic during their entire follow-up. The most common symptoms at presentation were reduced vision (70%) and distortion in central vision (53%). Most subjects were emmetropic. The mean BCVA (logMAR) at baseline was 0.27 ± 0.41 (range, -0.1 to 2.1) in right eyes and was 0.19 ± 0.32 (range, -0.2 to 1.3) in left eyes. After a mean follow-up of 7.9 years, BCVA was reduced to 0.59 ± 0.66 (range, -0.1 to 2.1) in right eyes and 0.5 ± 0.72 (range, -0.1 to 2.4) in left eyes, values that were significantly different than baseline (P < 0.0001 and P < 0.0014, respectively). Fifteen eyes showed active or inactive choroidal neovascularization (CNV). BCVA differed significantly (P = 0.0004) between eyes with and without CNV at a comparable mean age. The ONL had a slow rate of thinning longitudinally, which significantly correlated with BCVA. Conclusions: Despite the late onset and relatively good prognosis of ADD, CNVs are more frequent than previously reported and are associated with a worse prognosis. Further research is necessary to elucidate gender associations.

Effectiveness of oral antibiotics in managing extended-spectrum B-lactamase urinary tract infections: A retrospective analysis.

Background: Urinary tract infections caused by extended-spectrum beta-lactamase organisms pose a significant concern worldwide. Given the escalating prevalence of drug resistance and the limited data on the effectiveness of oral antibiotics in treating these infections, this study aimed to assess the clinical outcomes in adult patients with extended-spectrum beta-lactamase urinary tract infections treated with oral antibiotics. Methods: A retrospective observational cohort study was conducted at King Abdulaziz Medical City, Saudi Arabia, from January 2018 to December 2021. It included patients ⩾18 years with complicated or uncomplicated urinary tract infections from extended-spectrum beta-lactamase Enterobacterales and treated with oral antibiotics as step-down or mainstay therapy. All-cause clinical failure within 30 days post-discharge was evaluated as the efficacy outcome. Statistical analyses were performed using SPSS software. Results: Out of 643 screened patients, 152 patients met the inclusion criteria. The patients were divided into oral step-down therapy (51.3%) and oral-only (48.7%) groups. The majority (69.1%) were females, with a mean age of 62 years. Complicated urinary tract infections were diagnosed in (75.5%) of cases, and the predominant pathogen was E. coli (79.6%). Clinical failure was observed in 23.1% in the oral step-down group and 13.5% in the oral-only group, with no significant difference (p = 0.128). Total antibiotics duration was significantly lower in the oral-only group (8 days vs. 12.2 days; p < 0.001). Binary logistic regression identified elder age, diabetes mellitus history, and prior extended-spectrum beta-lactamase infection as predictors of clinical failure. Conclusion: This study suggests that both step-down or primary oral antibiotic treatment yielded similar clinical outcomes in managing patients with extended-spectrum beta-lactamase urinary tract infections. Further prospective studies are required to validate these findings.

Knowledge, Awareness, and Attitude of Physicians Toward Child Abuse: A Cross-Sectional Study.

INTRODUCTION: Child abuse refers to any type of mistreatment of a child, perpetrated by a parent, caregiver, or another individual in a custodial capacity, which may lead to instances of physical, sexual, or emotional abuse. Physicians play a crucial role in identifying and managing this phenomenon in the healthcare setting, as the number of unreported cases increases globally. METHODS: A questionnaire-based cross-sectional study was conducted between 2022 and 2023 among physicians practicing in Saudi Arabia to assess their knowledge, awareness, and attitude toward child abuse. The data were analyzed using IBM SPSS Statistics for Windows, Version 26 (Released 2019; IBM Corp., Armonk, New York, United States). RESULTS: A total of 153 physicians were involved in this study, in which 65 participants (42.5%) indicated poor awareness of child abuse, while 79 participants (51.6%) indicated moderate knowledge of child abuse. Additionally, lack of knowledge was the most common barrier to reporting child abuse in 87 participants (56.9%). A positive significant correlation was identified between awareness and knowledge and between knowledge and attitude. Also, it was found that a higher attitude score was more associated with being male, having less experience, practicing in the emergency medicine department, and working in a governmental hospital. CONCLUSION: These results highlight the significance of implementing specialized training programs and workshops focused on identifying and reporting child abuse, as well as providing guidelines for recognizing signs of abuse and taking appropriate intervention measures.

Reno-Duodenal Fistula as a Complication of Staghorn Stones and Renal Pelvis Tumor: A Case Presentation.

Reno alimentary fistula, a rare illness characterized by improper connection between the kidney and digestive tract, can lead to urinary tract infections, abscesses, and severe sepsis. It can also be caused by various factors such as chronic infections, malignancy, cryoablation, or abdominal surgical procedures. We present a case of a 60-year-old man with bilateral staghorn stones who was diagnosed with reno-duodenal fistula and underwent a right simple nephrectomy and fistula closure. The histopathology revealed a well-differentiated squamous cell carcinoma that originated from the renal pelvis.

HLA alleles, haplotypes frequencies, and their association with hematological disorders: a report from 1550 families whose patients underwent allogeneic bone marrow transplantation in Egypt.

HLA alleles are representative of ethnicities and may play important roles in predisposition to hematological disorders. We analyzed DNA samples for HLA-A, -B, -C, -DRB1, and -DQB1 loci, from 1550 patients and 4450 potential related donors by PCR-SSO (Polymerase chain reaction sequence-specific oligonucleotides) and estimated allele frequencies in donors and patients from 1550 families who underwent bone marrow transplantation (BMT) in Egypt. We also studied the association between HLA allele frequencies and incidence of acute myeloid leukemia, acute lymphoblastic leukemia, and severe aplastic anemia. The most frequently observed HLA class I alleles were HLA- A*01:01 (16.9%), A*02:01 (16.1%), B*41:01 (8.7%), B*49:01 (7.3%), C*06:02 (25.1%), and C*07:01 (25.1%), and the most frequently observed class II alleles were HLA-DRB1*11:01 (11.8%), DRB1*03:01 (11.6%), DQB1*03:01 (27.5%), and DQB1*05:01 (18.9%). The most frequently observed haplotypes were A*33:01~B*14:02 ~ DRB1*01:02 (2.35%) and A*01:01~B*52:01~DRB1*15:01 (2.11%). HLA-DRB1*07:01 was associated with higher AML odds (OR, 1.26; 95% CI, 1.02-1.55; p = 0.030). Only HLA-B38 antigen showed a trend towards increased odds of ALL (OR, 1.52; 95% CI, 1.00-2.30; p = 0.049) HLA-A*02:01, -B*14:02, and -DRB1*15:01 were associated with higher odds of SAA (A*02:01: OR, 1.35; 95% CI, 1.07-1.70; p = 0.010; B*14:02: OR, 1.43; 95% CI, 1.06-1.93; p = 0.020; DRB1*15:01: OR, 1.32; 95% CI, 1.07-1.64; p = 0.011). This study provides estimates of HLA allele and haplotype frequencies and their association with hematological disorders in an Egyptian population.