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Rare Case of Dense Deposition Disease with Combined C3 and C4d Deposits with MYH9-related Mutation

Published on: 14th November, 2023

Background: The C3 glomerulopathies are a group of rare forms of glomerulonephritis with an incidence of 1-2 cases per million. It is mainly characterized by dysregulation of the alternative complement pathway. It is further classified morphologically based on electron microscopy ultrastructural findings into Dense Deposition Disease (DDD) and C3 glomerulonephritis. DDD is normally characterised by C3 Deposits. Case: We report a rare case of a young Emirati male who presented with sub nephrotic proteinuria and microscopic haematuria on routine evaluation. Renal biopsy showed features of DDD with combined C3 and C4 deposits. The retinal evaluation showed features of Drusen classically seen in DDD. Genomic study showed heterozygous mutation in c.5842G>C (p.Asp1948His) variant of uncertain significance in MYH9 gene. Discussion: C3 Glomerulopathy is a type of immune mediated disease previously classified as membranoproliferative glomerulonephritis. DDD is mainly characterised by C3 deposits in the glomerular basement Membrane. Our case has both C3 and C4d deposits, which is a rare entity. It shows the activation of both classical and alternate pathways. Conclusion: Dense deposition disease is a rare complement mediated glomerulopathy. It is characterised by C3 deposits. Dense deposition disease with combined C3 and C4d deposits is a new entity. The treatment and prognosis of such cases will be different and unique compared to the normal cases of DDD.
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Impact of Intravenous Busulfan Pharmacokinetics on Safety in Pediatric Patients who have undergone Hematopoietic Stem Cell Transplant

Published on: 3rd December, 2024

Introduction: Busulfan (Bu)-based regimens are crucial for myeloablative conditioning in pediatric allogeneic stem cell transplantation. Despite its efficacy, Intravenous Bu has a narrow therapeutic index and variable pharmacodynamics especially in children, heightening the risk of adverse events. This study explores Bu dosing and related organ toxicities in pediatric patients at a tertiary center in Saudi Arabia.Methodology: This retrospective study at King Fahad Specialist Hospital in Dammam (KFSH-D), Saudi Arabia, included pediatric patients (≤16 years) treated with intravenous Bu before bone marrow transplantation from 2010 to 2022. Pharmacokinetic dose adjustments were based on AUC targets of 900-1350 µMol-min. Descriptive measures included mean, Standard Deviation (SD), median, minimum-maximum values, counts, and percentages. Statistical analyses used Kruskal-Wallis, Chi-square, and Fisher’s exact tests. Ethical approval was obtained from KFSH-D.Results: We identified 44 pediatric patients who underwent Bu prior to HSCT. Mean age was 4.95 ± 2.49 years, with a female majority (56.8%). Primary diseases included Beta Thalassemia (34.09%), Neuroblastoma (29.55%) among others. There was no significant difference in the cohort’s demographic and clinical features of the cohort. Nonetheless, higher infections were found in the Low-AUC group (66.7%) compared to the Target-AUC (40.0%) and Higher-AUC groups (0.0%) (p = 0.015).Conclusion: This study emphasizes the need for therapeutic drug monitoring and individualized Bu dosing in pediatric HSCT to minimize toxicity and improve outcomes. Larger multicenter studies are recommended to refine dosing strategies and enhance the safety and efficacy of Bu-based regimens.
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The role of genetic mutations in genes LMNA, PPARG, PLIN1, AKT2, CIDEC in Köbberling–Dunnigan Syndrome

Published on: 22nd February, 2019

OCLC Number/Unique Identifier: 8022277557

Köbberling-Dunnigan syndrome, also known as partial familial lipodystrophy, is a rare genetic disorder characterized by abnormal distribution of adipose tissues. Many people with Köbberling-Dunnigan syndrome develop insulin resistance, a condition in which body tissues cannot adequately respond to insulin hormone. Insulin is a hormone that helps regulate the level of your blood glucose. Köbberling-Dunnigan syndrome can be due to mutations in several different genes. However, type 2 Köbberling-Dunnigan syndrome is caused by the mutation of the LMNA gene, which is located on the long arm of chromosome 1 as 1q22.
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Eating habits and lifestyle changes during the COVID-19 lockdown: A comparative study (before and during isolation) on the 9 de Julio city (Buenos Aires, Argentina) population

Published on: 16th November, 2020

OCLC Number/Unique Identifier: 8872698108

Following the COVID-19 proliferation beyond China’s borders at the beginning of 2020, containment measures have been taken by different countries around the globe. Citizens were forced to stay at home. Specifically, on March 19th, the Argentine Government decided to implement the “Social, preventive and mandatory isolation”, strategy that unfortunately impacts on the lifestyle, the practise of physical activity and on the nutritional aspect of the population. The aim of this study was analize eating habits and lifestyle changes during the COVID-19 lockdown on the 9 de Julio city, Bs. As., Argentina. The survey was conducted using Google Form. The questionnaire was divided into different sections: sociodemographic data, eating habits, physical activity and concepts and emotions associated with isolation. The research reached 287 responses with a medium socioeconomic level. During isolation, the frequency of purchases decreased. It was observed an increase in the consumption of pasta, bread and cakes. Concerning the physical activity, approximately 70% declared to train before the COVID-19 lockdown, decreased by 13% during the lockdown. Other activities conducted during the COVID-19 lockdown; the most mentioned were cleaning the house, cooking, watching television, series and movies. A percentage greater than 50% of the surveyed population associated the situation of lockdown with positive emotions (share with my family, stay at home); while only 24% associate it with negative emotions (anxiety, anguish, fear). It is expected that most habits will return to normal, however, it would be interesting to know which of those developed, adopted and implemented during lockdown will remain in the new normality.
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Room temperature organic superconductor compound prediction based on fractals in mesoscopic-scale regime

Published on: 17th May, 2023

Based on paraffin-wax include, volcano-based antimony-bearing, phospholipid, antimony found in gold deposit and TIPSb/triisopropylantimony ever predicted as the room temperature organic superconductor compound. Many flourishing explanations have been declared, from variational method to inductive deduction, with all indicating the presence of C9H21O3Sb.PBr6.We consider that aplications in mesoscale regime, at least when using multiscale fractal of critical parameter that affects physical & chemical properties and to adopt “mesoscopic scale” ever stated as “superconductors” by Holmvall (2017). Then the mathematical induction of variational method of exploitation on integers & natural numbers herewith paraffin-wax etc can be resembled the ever built antimony containing compounds to keep the realm of predictions.
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Natural Rubber Latex on Medical Applications

Published on: 6th December, 2023

In this review, latex from the Hevea Brasiliensis tree is presented as a material originating from nature, used to produce natural rubber, raw material for countless products for industry, as well as the manufacture of preservatives, and gloves, among others. Nowadays, its potential is expanding into various technological areas, one of which is biomedical, as described in this article. Latex has the possibility of being preserved using ammonium, which is a chemical of high health risk, but nowadays it is being substituted by acid systems excluding traditional chemicals. With these new preservation processes, the prospective use of latex for the design of biosensor scaffolds for drug release, and as membranes that can replace synthetic latex in patches for bioremediation in soft and bone tissues, synthetic muscles, membranes for biological micro laboratories, among others, is being studied to optimize its possibilities.
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Prevalence of ESBL urinary tract infection in children

Published on: 8th August, 2019

OCLC Number/Unique Identifier: 8207299945

Urinary tract infection (UTI) is one of the extremely popular causes of febrile illness in children, demanding antimicrobial therapy [1]. Overall, 8% of females and 2% of males, experience at least one incident of UTI by seven years of age, and recurrence takes place in up to 30% during a year [2].
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Lecture: "First Aid to the Population in Case of Thermal Burns during Accidents, Catastrophes, Natural Disasters and Terrorist Attacks" of the Subject "Life Safety" for Humanitarian and Technical Universities

Published on: 19th December, 2023

To prepare the population to provide first aid for thermal burns in emergency situations, algorithms for modern didactics of the educational topic “Thermal burns” are proposed. The following educational issues are highlighted: 1) Local exposure to high temperature. Burns. Kinds. Classification according to the depth of the lesion; 2) Rules for determining the area of burns; 3) Signs of thermal burns; 4) The concept of burn disease; 5) First (pre-hospital emergency) aid to burnt people; 6). Domestic burns from boiling water; 7) Features of burns in children; 8) Treatment of burns; 9) Prevention of thermal burns.
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Branchio Oculo Facial Syndrome

Published on: 29th November, 2019

OCLC Number/Unique Identifier: 8508295972

A 3-month-old girl presented to the surgical consultation room with bilateral cleft lip incomplete. A girl weighing 4205 g, was born at term after an uneventful pregnancy with a birth weight of 2500 g. There was no family history. On examination, a congenital, linear, erythematous cutaneous anomaly on the left side of her neck was highlighted with ocular anomalies (strabismus and the eyes are widely spaced) and a broad nose with a flattened tip. The examination of the other systems was unremarkable. In front of the association of these different anomalies BOFS was suspected but molecular diagnosis has not been made. The child benefited surgery to correct cleft lip with tennisson procedure with a good postoperative result.
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Forensic Analysis of WhatsApp: A Review of Techniques, Challenges, and Future Directions

Published on: 18th June, 2024

WhatsApp, a widely used instant messaging application, has become a valuable source of digital evidence in forensic investigations. This review article explores the forensic analysis techniques, challenges, and future directions associated with WhatsApp. It covers the extraction and analysis of data from various sources, including mobile devices, cloud backups, and network traffic. The article discusses the challenges faced by forensic examiners, such as encryption, data volatility, and the need for proper validation of tools. It also highlights the importance of keeping up with the latest updates and changes in WhatsApp’s features and security measures. The future directions for WhatsApp forensics are explored, focusing on the development of more advanced and efficient analysis techniques, the need for standardization, and the importance of international cooperation in addressing cross-border investigations. This review provides insights for forensic examiners, researchers, and legal professionals involved in cases requiring WhatsApp evidence.
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