bluuebunny/crossref_metadata_2025_split huggingface dataset:
Environmental Risk Factors for Relapses in Pediatric Onset Inflammatory Bowel Disease
Authors: Hamdy Ahmed M , AbdelMageed Reham I , Mohammed Basma A , Mohammedy Dina F , Fahmy Basma S , mahmoud Ahmed G 
Published: November 2024

Abstract

Background
Inflammatory bowel disease (IBD) in pediatric age group is influenced by the complex interactions of genes, the immune system, intestinal microbiota, and the external environment. There is currently little knowledge on environmental factors associated with its relapse.

Objective
The aim of this study is to assess the environmental risk factors of relapse of IBD in pediatric patients.

Methods
Patients diagnosed with pediatric IBD at one tertiary centre were included in a cross-sectional study. Clinical and endoscopic data together with medications were reported and laboratory investigations including stool analysis and culture and sensitivity were done. Food frequency questionnaires were obtained initially at remission and at relapse time.

Results
Fifty IBD patients were included; 30 males and 20 females with mean age of 12.91± 2.68 years. Of these, 28 patients (56%) had Ulcerative colitis (UC) and 22 patients (44%) had Crohn’s disease (CD). Most of them came from Urban (76%) and (24%) from rural areas. None has family history of similar cases of IBD. About one third of them (36%) has history of previous hospital admissions, surgeries or blood transfusion and 46% were exposed to smoking. All subjects were fully vaccinated according to national program of immunization. Unexpectedly, stool culture & sensitivity for the common incriminated organisms in relapse showed positive results in only 16% of cases (14 %and 2%) for E-coli and salmonella respectively. The application of food frequency questionnaire revealed that disease activity index during relapses was significantly correlated to higher lipids and lower fibers dietary consumption (P-value 0.000 and 0.005) respectively.

Conclusion
Achieving disease remission is one of the main objectives in treating IBD patients. Enteric infections and certain dietary habits are important environmental risk factors for IBD relapse. Patients presenting with relapse of IBD should have stool examined microbiologically and are candidates for dietary modification. This might lead not only to relief of symptoms but also a better quality of life.
Cardiac Affection in COVID-19 Pediatrics and its Correlation with Inflammatory Markers
Authors: Ishak Sally Raafat , Ganzoury Mona Mostafa El , Fouda Eman Mahmoud , Anwar Maha Ahmad , Kamal Amany Moustafa , Bakry Nehad Ahmed 
Published: November 2024

Abstract

Background
Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has caused a pandemic of respiratory and cardiovascular diseases, known as coronavirus disease 2019 (COVID-19). However, the respiratory system is the primary target of SARS-CoV-2, it also causes a systemic illness with widespread inflammation and cytokine flood, resulting in acute respiratory distress syndrome (ARDS), severe cardiovascular injury, multiorgan failure (MOF), and death in its most severe form. COVID-19 progression severity can be detected by cardiac signs. Detection of subtle cardiac damage early allows for providing efficient treatment.

Objective
The current study aimed to detect cardiac involvement in COVID-19 and its correlation with other inflammatory markers elevated in COVID-19 patients.

Methods
This retrospective analytical observational study included a total of 72 patients diagnosed as positive for COVID-19, depending on PCR of nasopharyngeal swabs, at Children’s Hospital, Ain Shams University in the period between December 2021 to March 2022. Patients included were within the pediatrics age group, from 4 months to 16 years old. They underwent full clinical examination, laboratory investigations, chest radiological studies, and echocardiographic assessment after 48 hours of admission. These patients were admitted in the isolation unit and later 30 (41.6%) patients were admitted in PICU. Patients were further grouped into 2 groups: Group I without cardiac affection, and Group II with cardiac affection.

Results
Patients with cardiac affection (group II) had more thrombocytopenia (61.5%) (P-value = 0.037), higher ESR (Median (IQR) = 62.5 (33 – 90))(P-value = 0.000), higher D- dimer (Median (IQR) = 4.25 (2.33–7.37))(P-value = 0.001), higher serum ferritin (Median (IQR) = 1200 (1022–3421))(P-value = 0.281), higher CK-MB (Median (IQR) = 33.5 (28–46)) (P-value = 0.000) and as a consequence, higher troponin I (Median (IQR) = 0.24 (0.1–0.46))(P-value = 0.000). Regarding Echo findings, cardiac affection showed a lower ejection fraction in (88.5%) of group II patients with Mean±SD (50.23 ± 6.69) (P-value = 0.000). The most frequent Echo finding was carditis (46.2%), followed by valvular lesions (42.3%), especially Tricuspid regurge. All the non-survivor (dead) cases (only 8 patients) were with cardiac affection.

Conclusions
COVID-19 can cause cardiovascular complications in pediatrics and correlate with inflammatory markers of COVID-19, which also can predict severe prognosis.
Musculoskeletal Problems in Children with Inborn Errors of Immunity
Authors: El-Owaidy Rasha H , Shousha Ghada A , lotfy Amal A , soliman Asmaa M , Baraka Mostafa , El-Sayed Zeinab A 
Published: November 2024

Abstract

Background
Inborn errors of immunity (IEIs) are inherited disorders of the innate or adaptive immune systems, or combinations of both. Several types of IEIs might present with arthropathy that may be related to infections, an autoimmune process or part of immunodeficiency syndromes. This work aimed at assessing the frequency and clinical burden of arthropathy in certain groups of IEIs.

Methods
This retrospective study included 108 children diagnosed as combined immunodeficiency and antibody deficiencies, and were following up in the Pediatric Allergy, Immunology and Rheumatology Unit, Children’s Hospital, Ain Shams University, in the period from December 2020 to February 2022. Medical records were revised for their immunological profile and articular presentations and possible underlying etiologies beside clinical assessment of survivors.

Results
In this study, patients with antibody deficiencies represented 60.2% of the studied population. Arthropathy was demonstrated in both categories; antibodies deficiency and combined immunodeficiency, 7% of combined immunodeficiency patients had arthropathy (4.7 % had arthritis and 2.3 had arthralgia), septic arthritis was demonstrated in 2.3 % of patients who had arthritis. In antibody deficiencies, 27.7 % of patients had arthropathy (15.4 % had arthritis and 12.3% had arthralgia), 7.7% of arthritic patients had septic arthritis.

Conclusion
Arthropathy is a common association/complication in IEIs in Egyptian children, due to infectious and non-infectious etiologies. Our study was limited by its retrospective design and small sample size.
Molecular Study of SP1 Binding Site of COL1A1 Gene in Children Affected with Vitamin D Deficiency Rickets
Authors: Ahmed Rana Abdelhakim , Kamal Tarek Mostafa , Shawky Rabah Mohamed , Gaber Elham , Abdelgayed Aya Elnady 
Published: November 2024

Abstract

Background
Rickets is a disease associated with delayed bone growth in infants and children due to impaired mineralization and ossification of the growth plates. The main cause of rickets is Vitamin D deficiency. Collagen type I is one of the key proteins involved in the maturation, development and mineralization of bone.

Objective
To investigate the possible association between occurrence and severity of vitamin D deficiency rickets and the allelic polymorphisms within COL1A1 Sp1 binding site gene.

Patients and Methods
This case-control study included 30 cases with active vitamin D deficiency rickets aged (6-36) months as well 30 healthy controls with matching age and sex. All subjects in the study were subjected to complete history taking with complete clinical examination and investigated for serum calcium, phosphorus, alkaline phosphatase (ALP), X-rays of distal ends of long bones (radius, ulna, tibia and femur), X- ray chest and genetic analysis for Sp1 binding site polymorphisms within Collagen 1 Alpha 1 (COL1A1) gene of type 1 collagen genotyped by Polymerase Chain Reaction (PCR)-RFLP method.

Results
The study subjects were 30 cases, 16 (53.3%) males and 14 (46.7%) females, and 30 controls, 15 (50.0%) males and 15 (50.0%) females, with matched age and sex. All signs of rickets were evident in cases than controls with p-value &lt;0.001. According to laboratory data, there was no significant difference between cases and controls regarding calcium levels 8.80 ± 0.99 versus 9.24 ± 0.73 mg/dl respectively, while there was significant decrease in the level of phosphorus and increase in the level of ALP in cases than controls, phosphorus 3.50 ± 0.73 versus 4.99 ± 0.53 mg/dl and ALP 641.80 ± 283.86 versus 142.13 ± 54.30 U/L, respectively. Regarding molecular genetics, dominant homozygous type (SS) was higher among controls 73.3% while dominant heterozygous type (Ss) was higher among cases 56.7% with p-value = 0.004 and 0.008; respectively. Also there was no significant difference between controls and cases regarding the percentage of recessive homozygous type (ss) with p-value = 0.554. The comparison between the two groups regarding allele distribution showed higher percentage of (s) allele in cases than controls 35.0% versus 15.0%; respectively with p-value = 0.011.

Conclusion
Our study found that Genetic polymorphisms of SP1 binding site of Collagen 1 Alpha1 (COL1A1) gene are associated with vitamin D deficiency rickets, low bone mineral density and higher risk of fractures in children. The study highlights the importance of genetic factors in the development of rickets in infants and children and suggests that COL1A1 gene polymorphisms may serve as a potential genetic marker for identifying children at-risk.
Minor Blood Group Incompatibility in Patients with Neonatal Jaundice: A Single Centre Study in Egypt
Authors: Khafagy Soha , Khaled Aya , Ibrahim Mariam 
Published: November 2024

Abstract

Background
Neonatal jaundice is the most common cause of hospitalization in the neonatal period. It is estimated that 60% of term newborns develop jaundice and 2% reach severe hyperbilirubinaemia.

Aim and Objectives
to study the frequency of cases of minor blood groups incompatibilities in patients with neonatal jaundice necessitating management.

Subjects and Methods
This prospective observational study was done on 220 patients in Neonatal intensive care units at Ain Shams University Hospitals diagnosed with neonatal jaundice and needed further investigations and treatment. patients were divided into 5 groups (RH, RH& ABO, minor blood group, non- hemolytic and ABO group). minor blood group patients identified according to positive antibody screen.

Result
4.5% of the studied neonates were minor blood groups, Total serum bilirubin was significantly higher in minor blood group than the other four groups RH, Rh and ABO, non- hemolytic and ABO groups with (p-value=0.037, 0.006, &lt;0.001, and &lt;0.001 respectively). 50% of minor blood group needed exchange transfusion which was significantly higher than ABO group with p-value&lt; 0.001.

Conclusion
minor blood group incompatibility compromise (4.5%) of the studied neonates who needed therapeutic management of hyperbilirubinemia, the higher level of total serum bilirubin, and more frequent need of exchange transfusion were seen in the patients with minor blood group incompatibilities compared with the other patients. Minor blood group incompatibility other than anti-D remains under diagnosed entity which needs to be kept in mind among cases of hemolytic disease of newborn.
Diagnostic Yield of the Number of Duodenal Biopsies in Celiac Disease
Authors: El-Hodhod Mostafa Abdel-Aziz , Ghazal Faten Abdel Aziz , Hamdy Ahmed Mohamed , Awad Yosra Mohamed Mohsen , Mohamed Deshnawy Azza Abdellatef 
Published: November 2024

Abstract

Background
The diagnosis of celiac disease relies on a combination of clinical evaluation, serological testing, and histopathological examination of duodenal biopsies. However, there is ongoing debate regarding the optimal number of duodenal biopsies required for an accurate diagnosis, as well as the isolated yield of water interface directed biopsy.

Aim
The primary objective is to determine the cumulative benefit of multiple duodenal biopsies, establishing the specificity and sensitivity of each biopsy separately with focus on the isolated yield of water interface directed biopsy.

Methods
A Cross-sectional study conducted on 22 children with symptoms and signs suggestive of celiac disease (CD) and positive serology with antitissue transglutaminase antibodies at the pediatric gastrointestinal endoscopy Unit at EL Demerdash Hospital, Ain Shams University for 6 months. four biopsies were taken, one from duodenal bulb, and 2 from rest of duodenum and the fourth one using water immersion technique visualizing the most affected area.

Results
Among the 22 enrolled children, 18 patients were histopathologically positive for celiac disease and 4 children were negative. The bulb, duodenal, and water interface biopsies were positive in 94.4%, 88.8%, and 66.7% respectively, of those positively diagnosed as celiac disease by Marsh criteria. In addition, bulb, and duodenal biopsies have the highest sensitivity of 94.4%, and 88.9%, respectively, also, they have the highest accuracy. Duodenal bulb biopsies were capable alone to diagnose 17 out of 18 definite cases. The missed case diagnosis was reached either by water interface or any random duodenal biopsy.

Conclusion
Bulb biopsy showed to be the most accurate in diagnosing celiac disease, on the contrary, water interface biopsy was not sensitive in diagnoses, so the celiac diagnostic efficacy can be reached by assessment of 2 duodenal biopsies, one of them from the duodenal bulb.
Thoracic Fluid Content as a New Predictor of Successful Weaning in Neonates Compared to Lung Ultrasound
Authors: Gad Ghada Ibrahim , Ashraf Okba Ahmed , Hussein Dalia Mahmoud Shawky , Shehata Basma Mohamed 
Published: November 2024

Abstract

Background
Accurate timing for neonatal extubation is needed to avoid complications resulting from prolonged ventilation or extubation failure. No known universal predictors for successful weaning. Thoracic fluid content (TFC) by Electrical cardiometry can be used in this matter as lung congestion may cause extubation failure. Moreover, Lung Ultrasound Score (LUS) which assesses lung aeration can help in this matter.

Aim of the Work
This study aims to assess the accuracy of TFC as a predictor of successful weaning compared to LUS in neonates.

Patients and Methods
In this prospective observational study 62 invasively ventilated neonates were included. According to gestational age (GA), they were split into two equal groups group (1) &lt; 34 weeks and group(2) &gt; 34 weeks. Then both were compared as regards ventilation settings, TFC and LUS score on intubation and prior to extubation.

Results
Lower Postnatal age on initiation of mechanical ventilation (MV)(1-5 days versus 2- 15 days/P-value= 0.007) and longer duration on MV (1-18 days versus 1-7days /P-value= 0.007) were found in group (1) than group(2). In addition to higher respiratory rates (mean 70 BPM versus 67 BPM / P-value&lt;0.001), Downes score(mean 7 versus 6 / P-value&lt;0.001) and ventilation settings (means were PIP 16, PEEP 8,and FIO2 0.50) in group(1) versus (PIP 14, PEEP 7, FIO2 0.45) in group (2) with P-value 0.001) on initiation of ventilation. TFC mean was 44.35 kΩ−1in group (1) versus 42.5 kΩ−1 in group (2), LUS score mean was 6 in group (1) versus 5 in group(2). the both groups were comparable as regards TFC and LUS score. TFC and LUS score were positively correlated (r*=0.74). the best cut off value for TFC at which the neonate can be extubated successfully was &lt; 41.5 kΩ−1 with sensitivity 75.3% and specificity 81.3%. the best cut off value for LUS score was &lt; 5 with sensitivity 73.1% and specificity63.3%.

Conclusion
TFC and LUS score can be used as predictors of successful extubation in neonates.
The Utility of Whole Exome Sequencing in Diagnosing Neurogenetic Disorders: UAE Experience
Authors: Saleh Dina Amin , Khalaf Tamam Eyad , El-Hattab Ayman W 
Published: November 2024

Abstract

Background
The application of whole exome sequencing (WES) served as a helpful tool in the diagnosis of neurological disorders.

Aim
We aimed at investigating the diagnostic yield of WES in obtaining a molecular confirmation of neurogenetic disorders and identifying novel disease-causing variants in a highly consanguineous population.

Methods
This is a retrospective multicenter study that included pediatric patients presenting to the neurology and genetic clinics with neurological disorders who underwent WES across four cities in the United Arab Emirates (UAE). The patient's charts were reviewed in detail during the period from December 2019 to December 2022 for the core clinical features, analysis of the molecular data, and recording of the previously unreported mutations.

Results
338 patients were enrolled of which 71% wereconsanguineous. Their main clinical presentation was developmental delay (78.3%), seizures (55%), distinctive facial features (42.9%), behavioral abnormalities (36.9%) and weakness (25.7%), respectively. Disease-causing variants were identified in 57.1%, of which half of them (50.1%) showed novel mutations. 4.6% of candidate genes have not been linked to human diseases yet and 7.8% of potentially treatable disorders were reported.

Conclusion
We report a high yield from WES in a highly consanguineous population, where almost a third of our patients showed novel variants for neurogenetic disorders. Potentially treatable disorders were described highlighting its importance in modifying the treatment plan and offering better knowledge and standards of care. We also spotted candidate genes that can potentially be novel genes associated with previously undescribed new syndromes. However, further cases are needed to confirm this gene- disease relationship.
Effect of Dipeptidyl Peptidase-4 Inhibitors Supplementation on Non-Alcoholic Steatohepatitis in Adolescents with Type 1 Diabetes Mellitus
Authors: ElKabbany Zeinab Anwar , Elbarbary Nancy Samir , Ismail Eman Abdel Rahman , Hamed Eman Tawfik 
Published: November 2024

Abstract

Background
Many patients with type 1 diabetes mellitus (T1DM) had histological evidence of steatosis and met the histological criteria for non-alcoholic steatohepatitis (NASH). Accumulating data suggested that dipeptidyl peptidase-4 (DDP-4) enzyme is involved in the development of various chronic liver diseases. Some studies showed the beneficial effect of DDP-4 inhibitors in liver injury for their ability in modulating fatty acid oxidation, decreasing lipogenesis and improving hepatic glucose metabolism.

Objectives
Therefore, we performed a randomized-controlled trial to assess the effect of the oral DPP- 4 inhibitor vildagliptin as an add-on therapy on NASH in adolescents with T1DM as well as its effect on glycemic control, lipid profile.

Methods
This study included 60 adolescents with T1DM and NASH. Patients were randomly assigned into two groups; intervention group who received oral vildagliptin (50 mg daily). The other group did not receive any supplementation and served as a control group. Both groups were followed- up for six months with assessment of fasting and 2 hours post-prandial blood glucose levels, HbA1c, liver function tests, fasting lipid profile and hepatic steatosis index.

Results
Supplementation with oral DPP-4 inhibitor vildagliptin was safe and well-tolerated. After six months, Vildagliptin adjuvant therapy for the intervention group resulted in a significant decrease of systolic and diastolic blood pressure as well as insulin dose (p &lt; 0.001). Blood glucose levels, HbA1c, liver enzymes, triglycerides, total cholesterol and hepatic steatosis index were significantly lower after vildagliptin therapy compared with baseline levels and compared with the control group (p &lt; 0.001).

Conclusions
The DDP-4 inhibitor vildagliptin in a once daily dose of 50 mg orally for six months as an add-on therapy for adolescents with T1DM and NASH was safe and improved glycemic control and dyslipidemia while decreasing steatosis; hence, preventing disease progression.
The Frequency of Beef Allergy in Children with Cow Milk Allergy
Authors: Zaky Ghobrial Engy Melik , El-Deeb Marwa Talaat , Awad Yosra Mohamed Mohsen , Radwan Nesrine Mohamed 
Published: November 2024

Abstract

Background
Children with cow’s milk allergy may be instructed to avoid beef since it is recognized that there is cross-reactivity of bovine serum albumin and bovine γ-globulin which are present in both milk and beef. The true prevalence of beef allergy has been studied only in few researches.

Aim
The primary objective was to determine the frequency of allergy to beef meat in children with cow’s milk protein allergy by serum measurement. The Secondary objective was to assess the sensitivity and specificity of beef IgE in relation to the gold standard of challenge test through introduction of cooked beef.

Methods
Cross sectional study conducted on 96 children from seven months to three years old newly diagnosed with cow milk allergy at Gastroenterology Unit and Allergy, Rheumatology and Immunology Unit, Ain Shams University. Then, serum specific IgE for beef and oral food challenge test have been done.

Results
In this study, 96 children diagnosed with cow’s milk allergy have been included. Specific IgE for beef showed that 78 patients (81.25%) were positive while 18 patients (18.75%) were negative. Then, all patients were suspected to oral challenge test where they were asked to eat well cooked beef with gradual doses. 22.3% of patients suffered from gastrointestinal symptoms while 18.1%, 10.6% and 5.3% of patients suffered from skin symptoms, napkin dermatitis and respiratory symptoms, respectively.

Conclusion
Children allergic to milk protein are not necessarily to be allergic to cooked beef. Thus, elimination of beef from the diet of children with cow’s milk allergy should not be done except after oral challenge test to not lose its nutritional value without benefit.