Challenges in Managing Paediatric Crohn's Disease With Crohn's Disease Exclusion Diet (CDED): The First Single-Center Study in the United Arab Emirates.

BACKGROUND: Inflammatory bowel disease has been increasing significantly. For that, many modalities of treatment have shown promising results including a special diet. In our study, we looked at Crohn's disease dietary management for induction and subsequently maintenance of treatment. The research question was how feasible was applying this approach and what difficulties the patients and their parents faced. METHODOLOGY: We reviewed the electronic medical system. We had 32 paediatric patients who were diagnosed with Crohn's disease and used the special diet plan (Crohn's disease exclusion diet or exclusion enteral nutrition) to induce remission or maintenance. Then, we used a questionnaire to identify the difficulties they faced while using the special diet. RESULTS AND DISCUSSION: We have found that the cohort had used the special diet for a variable duration. The majority of patients opted to start with Crohn's disease exclusion diet. The clinical response was inconsistent due to poor compliance. Only 57 % of the patients were able to bear with the dietary plan beyond 12 weeks. Patients reported the following factors which caused non-compliance: intolerance/difficulty to follow (40%), cost (19%), poor clinical response (19%), and others. CONCLUSIONS: In managing Crohn's disease, a multidisciplinary approach, including dietary interventions, is crucial. However, adherence to specialized diets poses several challenges identified in this study based on patient feedback. Addressing barriers and prioritizing dietitians' role is essential for improved patient outcomes in inflammatory bowel disease management.

EFFECT OF PHARMACIST COUNSELING ON PATIENT MEDICATION COMPLIANCE AND HELICOBACTER PYLORI ERADICATION AMONG JORDANIAN OUTPATIENTS.

BACKGROUND: To examine the impact of pharmacist counseling and follow-up on patient's medication compliance and Helicobacter Pylori (H. pylori) eradication and evaluate the efficiency of an eradication regimen consisting of Clarithromycin 500 mg, Amoxicillin 1 g, and Lansoprazole 30 mg, twice daily for 14 days. METHODS: Two hundred patients undergoing endoscopy and positive rapid urease tests were included in the present study. Patients were randomly divided into two groups: an intervention group (n=100) and a control group (n=100). The intervention patients obtained their medications from the hospital pharmacist and received sufficient counseling and follow-up. On the other hand, the control patients received their medications from another hospital pharmacist and went through the routine hospital procedure without good counseling and follow-up. RESULTS: The intervention resulted in a statistically significant improvement in outpatient compliance with medication (45.0% vs 27.5%; P<0.05) and eradication of H. pylori (28.5% vs 42.5%; P<0.05) among those patients. CONCLUSION: This study reflects the importance of pharmacist counseling and patient compliance to medication, as the patients who received pharmacist counseling exhibited perfect compliance to medication, which led to the successful eradication of H. pylori.

The genomic landscape of rare disorders in the Middle East.

BACKGROUND: Rare diseases collectively impose a significant burden on healthcare systems, especially in underserved regions, like the Middle East, which lack access to genomic diagnostic services and the associated personalized management plans. METHODS: We established a clinical genomics and genetic counseling facility, within a multidisciplinary tertiary pediatric center, in the United Arab Emirates to locally diagnose and manage patients with rare diseases. Clinical genomic investigations included exome-based sequencing, chromosomal microarrays, and/or targeted testing. We assessed the diagnostic yield and implications for clinical management among this population. Variables were compared using the Fisher exact test. Tests were 2-tailed, and P < .05 was considered statistically significant. RESULTS: We present data on 1000 patients with rare diseases (46.2% females; average age, 4.6 years) representing 47 countries primarily from the Arabian Peninsula, the Levant, Africa, and Asia. The cumulative diagnostic yield was 32.5% (95% CI, 29.7-35.5%) and was higher for genomic sequencing-based testing than chromosomal microarrays (37.9% versus 17.2%, P = 0.0001) across all indications, consistent with the higher burden of single gene disorders. Of the 221 Mendelian disorders identified in this cohort, the majority (N = 184) were encountered only once, and those with recessive inheritance accounted for ~ 62% of sequencing diagnoses. Of patients with positive genetic findings (N = 325), 67.7% were less than 5 years of age, and 60% were offered modified management and/or intervention plans. Interestingly, 24% of patients with positive genetic findings received delayed diagnoses (average age, 12.4 years; range 7-37 years), most likely due to a lack of access to genomic investigations in this region. One such genetic finding ended a 15-year-long diagnostic odyssey, leading to a life-threatening diagnosis in one patient, who was then successfully treated using an experimental allogenic bone marrow transplant. Finally, we present cases with candidate genes within regions of homozygosity, likely underlying novel recessive disorders. CONCLUSIONS: Early access to genomic diagnostics for patients with suspected rare disorders in the Middle East is likely to improve clinical outcomes while driving gene discovery in this genetically underrepresented population.

Efeito do aconselhamento farmacêutico na adesão à medicação do paciente e na erradicação do Helicobacter Pylori em pacientes ambulatoriais jordanianos / Effect of pharmacist counseling on patient medication compliance and helicobacter pylori eradication among jordanian outpatients

ABSTRACT Background: To examine the impact of pharmacist counseling and follow-up on patient's medication compliance and Helicobacter Pylori (H. pylori) eradication and evaluate the efficiency of an eradication regimen consisting of Clarithromycin 500 mg, Amoxicillin 1 g, and Lansoprazole 30 mg, twice daily for 14 days. Methods: Two hundred patients undergoing endoscopy and positive rapid urease tests were included in the present study. Patients were randomly divided into two groups: an intervention group (n=100) and a control group (n=100). The intervention patients obtained their medications from the hospital pharmacist and received sufficient counseling and follow-up. On the other hand, the control patients received their medications from another hospital pharmacist and went through the routine hospital procedure without good counseling and follow-up. Results: The intervention resulted in a statistically significant improvement in outpatient compliance with medication (45.0% vs 27.5%; P<0.05) and eradication of H. pylori (28.5% vs 42.5%; P<0.05) among those patients. Conclusion: This study reflects the importance of pharmacist counseling and patient compliance to medication, as the patients who received pharmacist counseling exhibited perfect compliance to medication, which led to the successful eradication of H. pylori.

RESUMO Contexto: Analisar o impacto do aconselhamento e acompanhamento farmacêutico na adesão medicamentosa do paciente e na erradicação do Helicobacter Pylori (H. pylori) e avaliar a eficiência de um regime de erradicação composto por Claritromicina 500 mg, Amoxicilina 1 g e Lansoprazol 30 mg, duas vezes ao dia por 14 dias. Métodos Duzentos pacientes submetidos à endoscopia e testes rápidos de urease positivos foram incluídos no presente estudo. Os pacientes foram divididos aleatoriamente em dois grupos: um grupo intervenção (n=100) e um grupo controle (n=100). Os pacientes de intervenção obtiveram seus medicamentos do farmacêutico do hospital e receberam aconselhamento e acompanhamento suficientes. Por outro lado, os pacientes do grupo controle receberam seus medicamentos de outro farmacêutico hospitalar e passaram pelo procedimento hospitalar de rotina sem um bom aconselhamento e acompanhamento. Resultados: A intervenção do farmacêutico resultou em melhora estatisticamente significativa na adesão ambulatorial à medicação (45,0% vs 27,5%; P<0,05) e na erradicação de H. pylori (28,5% vs 42,5%; P<0,05) entre esses pacientes. Conclusão Este estudo reflete a importância do aconselhamento farmacêutico e da adesão do paciente à medicação, uma vez que os pacientes que receberam aconselhamento farmacêutico apresentaram perfeita adesão à medicação, o que levou à erradicação bem-sucedida da H. pylori.

Genetic and Clinical Characteristics of Patients in the Middle East With Multisystem Inflammatory Syndrome in Children.

Importance: Clinical, genetic, and laboratory characteristics of Middle Eastern patients with multisystem inflammatory syndrome in children (MIS-C) have not yet been documented. Objective: To assess the genetic and clinical characteristics of patients with MIS-C of primarily Arab and Asian origin. Design, Setting, and Participants: A prospective, multicenter cohort study was conducted from September 1, 2020, to August 31, 2021, in the United Arab Emirates and Jordan. Forty-five patients with MIS-C and a matched control group of 25 healthy children with a confirmed SARS-CoV-2 infection status were recruited. Whole exome sequencing in all 70 participants was performed to identify rare, likely deleterious variants in patients with MIS-C and to correlate genetic findings with the clinical course of illness. Exposures: SARS-CoV-2. Main Outcomes and Measures: Fever, organ system complications, laboratory biomarkers, whole exome sequencing findings, treatments, and clinical outcomes were measured. The Mann-Whitney U test was used to assess the association between genetic variants and MIS-C attributes. The Fisher exact test was used to compute the genetic burden in MIS-C relative to controls. Results: A total of 45 patients with MIS-C (23 [51.1%] male; 30 [66.7%] of Middle Eastern origin; mean [SD] age, 6.7 [3.6] years) and 25 controls (17 [68.0%] male; 24 [96.0%] of Middle Eastern origin; mean [SD] age 7.4 [4.0] years) participated in the study. Key inflammatory markers were significantly dysregulated in all patients with MIS-C. Mucocutaneous and gastrointestinal manifestations were each reported in 36 patients (80.0%; 95% CI, 66.1%-89.1%), cardiac findings were reported in 22 (48.9%; 95% CI, 35.0%-63.0%), and neurologic findings were reported in 14 (31.1%; 95% CI, 19.5%-45.6%). Rare, likely deleterious heterozygous variants in immune-related genes, including TLR3, TLR6, IL22RA2, IFNB1, and IFNA6, were identified in 19 patients (42.2%; 95% CI, 29.0%-56.7%), of whom 7 had multiple variants. There was higher enrichment of genetic variants in patients relative to controls (29 vs 3, P < .001). Patients with those variants tended to have earlier disease onset (7 patients [36.8%; 95% CI, 19.1%-58.9%] with genetic findings vs 2 [7.7%; 95% CI, 2.1%-24.1%] without genetic findings were younger than 3 years at onset) and resistance to treatment (8 patients [42.1%; 95% CI, 23.1%-63.7%] with genetic findings vs 3 patients [11.5%; 95% CI, 4.0%-29.0%] without genetic findings received 2 doses of intravenous immunoglobulin). Conclusions and Relevance: The results of this cohort study suggest that rare, likely deleterious genetic variants may contribute to MIS-C disease. This finding paves the way for additional studies with larger, diverse populations to fully characterize the genetic contribution to this new disease entity.

A Case of Successfully Treated Central Line-Associated Bloodstream Infection Due to Vancomycin-Resistant Leuconostoc Citreum in a Child With Biliary Atresia.

Infections caused by the Leuconostocspecies have been increasingly described in the literature. They are Gram-positive, catalase-negative cocci that are intrinsically resistant to glycopeptides, including vancomycin. Although rarely pathogenic in humans, they have been primarily found in patients with immunosuppression, and a history of prolonged antibiotics use. We report a rare case of central venous catheter (CVC) infection caused by Leuconostoc citreum, which was successfully treated with salvaging of the CVC, aiming to highlight the potential risk factors and share the course of management of our patient.

Non-resolving Pneumonia As Presentation of Incomplete Kawasaki Disease in Arabic Girl.

Kawasaki disease (KD), particularly incomplete form, might present with wide spectrum clinical features. The treatment regimen includes a combination of intravenous immunoglobulins (IVIG) and aspirin. The use of steroids has been studied as an adjunctive therapy and its role in preventing coronary artery (CA) complications is still debatable. Here, we are presenting a rare presentation of incomplete KD. A previously healthy 5-year-old Arab girl, presented with clinical features consistent with pneumonia, rash, and enlarged cervical lymph nodes. On admission, antibiotics were administered intravenously in addition to steroids considering her reactive airway disease history which resulted in interim improvement. Yet, upon clinical worsening, her clinical status was revised, laboratory and physical examination revealed raised inflammatory markers, new opacity of pulmonary consolidation on chest X-ray, and peeling of skin. Because of high clinical suspicion of incomplete KD combined with her echocardiography that showed prominent coronary arteries, diagnosis of incomplete KD was made. After treating her with IVIG and aspirin, the patient made a full recovery. We are reporting pneumonia-like presentation of incomplete KD. High index of suspicion is required to diagnosis and treat promptly to prevent complications.

The genomic landscape of pediatric rheumatology disorders in the Middle East.

The landscape and clinical utility of comprehensive genomic investigations for a wide range of pediatric rheumatic disorders have not been fully characterized in the Middle East. Here, 71 pediatric patients, of diverse Arab origins, were clinically and genetically assessed for a spectrum of rheumatology-related diseases at the only dedicated tertiary children's hospital in the United Arab Emirates. Clinical genomic investigations included mainly (76%) next-generation sequencing-based gene panels and whole-exome sequencing, along with rapid sequencing in the intensive care unit and urgent setting. The overall positive yield was 46.5%, whereas dual diagnoses were made in two cases (3%). Although the majority (21/33, 64%) of positive findings involved the MEFV gene, the remaining (12/33, 36%) alterations were attributed to 11 other genes/loci. Copy number variants (CNVs) contributed substantially (5/33, 15.2%) to the overall diagnostic yield. Sequencing-based testing, specifically rapid sequencing, had a high positive rate and delivered timely results. Genetic findings guided clinical management plans and interventions in most cases (27/33, 81.8%). We highlight unique findings and provide additional evidence that heterozygous loss of function of the IFIH1 gene increases susceptibility to recurrent fevers. Our study provides new insights into the pathogenic variation landscape in pediatric rheumatic disorders.

The Compound Expression of HSP90 and INOS in the Testis of Diabetic Rats as Cellular and Pathologic Adverse Effects of Diabetes.

INTRODUCTION: Diabetes is increasingly prevalent at global level and associated with various impacts including the male reproductive system. AIMS: This research is aimed at investigating the influence of diabetes on the localization and expression of HSP90 and iNOS in the testicular tissue of diabetic rats. METHODS: A diabetic model was developed through a single injection of alloxan monohydrate intraperitoneally (purchased from Sigma-Aldrich) 120 mg/kg body weight following fasting for 12 hrs. The experiment involved two groups, the control and diabetic groups with 10 albino rats in each group. Diabetes was considered if glucose concentration was ≥200 mg/dl. The experiment duration was for one month. After the experiment had finished, all rats were terminated and prepared for routine histological and immunohistochemical examination. RESULTS: The results revealed that diabetes caused morphological changes at histological level in testicular tissue. Immunohistochemical examination showed that diabetes significantly upregulated the expression of both HSP90 and iNOS in the testicular tissue of diabetic rats as compared with that of the control group (p < 0.001). CONCLUSION: Diabetes may induce adverse health effects on the male reproduction through upregulation of HSP90 and iNOS in the testicular tissue of diabetic rats.