A rare hemoglobinopathy duo: Hb Adana×Hb SEA in a 1-year-old patient - a case report and a brief literature review.

Introduction and importance: Alpha thalassemia, resulting from nondeletional mutations, typically presents a more severe clinical manifestation compared to deletional mutations. Severe outcomes, such as hydrops fetalis, are associated with two specific nondeletional mutations. Therefore, DNA-based investigation is crucial for suspected carriers exhibiting subtle hematological abnormalities to facilitate proper diagnosis and effective family counseling. Case presentation: In this report, the authors describe a phenotypically normal 1-year-old girl with a rare and unique alpha-thalassemia genotype due to the presence of Hb Adana, a nondeletional alpha-chain mutation compounded with Hb SEA, an alpha-globin gene deletion. Clinical discussion: Mutations determine the clinical manifestations of alpha-thalassemia. DNA testing is recommended for suspected carriers with relatively small hematological abnormalities, for precise diagnosis and family counseling. To provide clinicians with a reference for diagnostic assessment, the authors established a genotype-phenotype correlations based on reported cases of Hb Adana following an exhaustive literature review. Being interested in determining which ethnicities and genotypes are associated with a higher risk of complications, including hydrops fetalis and transfusion dependence, the authors formalized a diagnostic evaluation guide and a guide for early screening to improve outcomes. Conclusion: Precise genetic evaluation is important for the diagnosis of alpha thalassemia. Hematologists play a critical role in managing these disorders, understanding genotype-phenotype correlations, and highlighting the significance of genetic counseling for high-risk patients. Extensive studies on these various genophenotypes are required to improve the diagnosis and prognosis of such medical conditions and advocate preventative strategies.

Intussusception and Gut Dysmotility: A Systematic Review Assessing Unexpected Complications of Bariatric Surgery.

Bariatric surgery, although effective in treating obesity-related comorbidities, rarely results in intussusception, which is a severe complication. This study aimed to enhance clinical practice and establish early diagnosis by elucidating risk factors and management strategies associated with intussusception. We conducted this systematic review following Preferred Reporting Items for Systematic Reviews and Meta-Analysis 2020 criteria. We looked through PubMed, PubMed Central, ScienceDirect, ScienceOpen, MyScienceWork, Hyper Articles en Ligne (HAL), Google Scholar, and the Medical Literature Analysis and Retrieval System Online for relevant studies and research. Articles were screened according to inclusion and exclusion criteria, and relevance. We employed pertinent quality appraisal instruments to look for bias. Initially, we discovered 2,833 items. We eliminated redundant and unnecessary publications. After reviewing all the articles, we selected 30 studies based on their titles and abstracts. Out of the 30 studies reviewed, 12 papers were included in this review, with the remaining 18 being eliminated due to low quality. Medical practitioners and surgeons have a responsibility to meticulously monitor and provide postoperative surveillance, with a particular emphasis placed on individuals exhibiting symptoms of abdominal pain and vomiting, as there is a clinical imperative to consider the possibility of intussusception. The management approach, whether conservative or surgical, remains contingent upon the clinical context.

Alterations in Gut Microbiota as Early Biomarkers for Predicting Inflammatory Bowel Disease Onset and Progression: A Systematic Review.

Inflammatory bowel disease (IBD) is a chronic ailment impacting the digestive system, triggered by an unusual reaction of the immune system. It includes two types of diseases: ulcerative colitis and Crohn's disease. Nonetheless, the diagnosis and evaluation of disease progression in IBD are difficult due to the absence of distinct indicators. While conventional biomarkers from blood plasma and feces, such as C-reactive protein, fecal calprotectin, and S100A12, can be employed to gauge inflammation, they are not exclusive to IBD. There is a broad consensus that intestinal microorganisms significantly contribute to the onset of intestinal imbalance, a condition intimately linked with the cause and development of IBD. Numerous studies have indicated that the makeup of intestinal microorganisms varies between individuals with IBD and those who are healthy, particularly concerning the diversity of microbes and the proportional prevalence of certain bacteria. A total of 1475 records underwent examination. Following the eligibility assessment, 17 reports were considered. The final review encompassed 12 studies, as five articles were excluded due to insufficient details regarding cases, controls, and comparability. This article suggests that gut microbiota has potential biomarkers for the noninvasive evaluation of IBD activity. Recognizing the microbiome linked with disease activity paves the way for the development of a group of microbiota-derived indicators to evaluate the initiation and advancement of IBD. This article discusses whether changes in gut microbial composition can serve as early indicators of IBD onset and progression.

Associative Patterns Between Iron Deficiency Anemia and Febrile Seizures in the Five to 60 Months Age Group: A Comprehensive Systematic Review.

Febrile seizures (FS) are commonly seen in younger age groups. The cause of seizures is multifactorial, including viral illnesses, certain vaccines such as MMR (measles, mumps, rubella), family history of FS, and certain mineral deficiencies like zinc. Iron deficiency anemia (IDA) is the most common cause of anemia in children of the same age group. The systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. This review aimed to investigate the correlation between IDA and fever convulsions. A systematic literature search was conducted using PubMed and Google Scholar databases for studies published between January 2013 and September 2023. The following keywords were used to search the articles: "children", "febrile seizures", and "iron deficiency anemia", using all possible combinations and using the word "and" between them. Following the inclusion and exclusion criteria application, we included 23 case-control studies written in the English language in this study. Quality assessment of studies was done using the Newcastle Ottawa Scale.

Evaluating the potential mediating role of ADAMTS13 activity in the relationship between obesity and the severity of COVID-19: A retrospective cohort study.

Obesity and low enzyme A disintegrin and metalloproteinase with thrombospondin type-1 motif-13 (ADAMTS13) activity have been linked to poor coronavirus disease 2019 (COVID-19). Given that obesity may influence ADAMTS13 activity, it is feasible; however, it remains unclear whether ADAMTS13 activity acts as a mediator between obesity and COVID-19 outcomes. We investigated the link between body mass index (BMI) and COVID-19 outcomes, using ADAMTS13 activity as a mediator. ADAMTS13 activity was measured in 86 hospitalized COVID-19 patients. BMI, ADAMTS13 activity, and COVID-19 outcomes were assessed. Obese patients had a high odds ratio for low ADAMTS13 levels. When different levels of ADAMTS13 activity were considered, the severity of COVID-19 in obese patients was 4.5 times that in the normal BMI group. Furthermore, increased coagulopathy indicators correlated with low ADAMTS13 activity. Patients with elevated ALT and AST levels showed a 3 to 4-fold increase in the chances of low ADAMTS13 activity (OR:3.19, 95% CI:1.22-8.90, P = .021; OR:2.17, 95% CI:0.91-5.27, P = .082, respectively). When ADAMTS13 activity was considered, obese patients had greater COVID-19 severity and slower viral clearance than those with normal BMI. Low ADAMTS13 activity and impaired liver function are associated with poor COVID-19 outcomes. These findings encourage researchers to use molecular component identification to study the effects of obesity on the von Willebrand factor (VWF)/ADAMTS13 axis, COVID-19 pathogenesis, and outcomes.

Keto Clarity: A Comprehensive Systematic Review Exploring the Efficacy, Safety, and Mechanisms of Ketogenic Diet in Pediatric Epilepsy.

Epilepsy, a widespread neurological disorder characterized by recurrent seizures, affects millions globally, with a significant impact on the pediatric population. Antiepileptic drugs (AEDs) constitute the primary treatment; however, drug-resistant epilepsy (DRE), especially in children, poses a therapeutic challenge. Alternative interventions, such as surgery, vagus nerve stimulation, and the ketogenic diet (KD), have been explored. This systematic review aims to investigate various types of KDs, their distinctions, their effectiveness, and their safety concerning the reduction of seizure frequency, achieving seizure freedom, and the occurrence of adverse events. The study adheres to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines. A comprehensive search was conducted using databases such as PubMed Central (PMC), MedLine, and Science Direct to identify relevant articles. Eligibility criteria and quality assessment tools were applied to evaluate the potential risk of bias and select 11 articles for inclusion in this review. The selected articles encompassed four randomized controlled trials (RCTs), two systematic reviews, and five narrative reviews. The data collected for this review was completed on October 2, 2023. Challenges, such as palatability, cultural factors, and adherence difficulties, were identified. Family or caregiver involvement plays a pivotal role in treatment success. Despite numerous RCTs and reviews, information gaps persist, hindering conclusive outcomes. Evaluating the risk-benefit ratio is crucial, considering potential side effects. The highly individualized nature of KD therapy, influenced by diverse seizure types and syndromes, necessitates a trial-and-error approach monitored by a multidisciplinary team. Long-term safety and efficacy demand continuous real-life patient data review. In summary, while KD presents a promising alternative for DRE, its success relies on meticulous planning, individualized implementation, and ongoing research to address existing challenges and information gaps.

Efficacy of Angiotensin Receptor-Neprilysin Inhibitor and Its Renal Outcome in Heart Failure Patients: A Systematic Review of Randomized Clinical Trials.

Heart failure (HF) is a major cause of morbidity and mortality and imposes a significant financial burden on healthcare systems globally. Angiotensin receptor-neprilysin inhibitor (ARNI), a novel neuroendocrine inhibitor, is frequently used in treating HF. However, there is still limited understanding regarding how it compares to other neuroendocrine inhibitors, such as angiotensin-converting enzyme inhibitors (ACEis) and angiotensin receptor blockers (ARBs). The purpose of this research is to present the most recent data regarding the efficacy and renal impact of ARNIs in the treatment of HF in comparison to ACE inhibitors and ARBs. Several large-scale randomized controlled trials (RCTs) have recently been conducted to evaluate the benefits of this drug in patients with different types of HF, regardless of their renal status. We searched multiple databases, including PubMed, PubMed Central (PMC), and Google Scholar, to find relevant RCTs. The efficacy outcome was a composite of the rate of death from cardiovascular causes, the frequency of HF hospitalizations (HFH), and alterations in N-terminal pro-brain natriuretic peptide (NT-proBNP) levels. The renal outcome was impairment of renal function. This systematic review analyzed large-scale RCTs involving 17,327 participants, with an average follow-up time of approximately 2.9 years. sacubitril/valsartan showed notable improvements compared to ACEis and ARBs in the following areas: reduction in NT-proBNP levels, prevention of further deterioration in renal function, and decreased hospitalizations for HF. Interestingly, there is no increased risk of mortality from cardiovascular causes with sacubitril or valsartan.

Nephrological Detrimental Impacts Resulting From Novel Immunotherapy Drugs Used in the Treatment of Cancer: A Systematic Review.

The most recent advancements in cancer therapy center on efficiently and conveniently enhancing a patient's natural immune system. Immune checkpoint inhibitors (ICIs) are antibodies that target cytotoxic thymus (T) lymphocyte antigen-4 (CTLA-4) and its receptor. They function by stimulating T-cell activity against malignancies. Immune-related adverse events (irAEs) are a distinct class of inflammatory side effects that are specific to a given organ. Antineoplastic medications can impact any part of the kidney, leading to the development of proteinuria, hypertension, electrolyte abnormalities, glomerulonephritis, and both acute and chronic interstitial nephritis. We reviewed the scientific literature regarding kidney problems that can arise from chemotherapy and immunotherapy for neoplasms, such as various cancers, melanoma, non-small cell lung cancer, and colorectal cancer. We discussed the pathophysiology, associated risk factors, management, and safety measures for patients experiencing acute renal injury after a new immunotherapy medication treatment. Antineoplastic drugs have the potential to damage the renal tubules, glomeruli, parenchyma, and blood vessels, among other kidney tissues. This can result in a broad spectrum of complications, spanning from a rise in serum creatinine levels without symptoms to the development of acute kidney injury (AKI). The research examined a range of risk factors associated with acute kidney injury (AKI). These factors encompassed age, gender, preexisting medical conditions (such as diabetes, hypertension, and chronic kidney disease), and the medications that patients were taking at the beginning of the study, which included non-steroidal anti-inflammatory drugs, renin-angiotensin system inhibitors, allopurinol, diuretics, corticosteroids, and proton pump inhibitors. The data suggests that patients who were receiving baseline treatment with proton pump inhibitors (PPIs) or corticosteroids had a higher risk of mortality. This study serves as an illustration of the effective management of acute kidney injury and proteinuria linked to novel immunotherapy drugs like pembrolizumab. The approach involved the use of corticosteroids tailored to the patient's condition. Furthermore, it references the recommendations outlined in the Common Terminology Criteria for Adverse Events (CTCAE). Prompt recognition and effective management of these side effects are essential to optimizing outcomes for patients undergoing immunotherapy. Our results were refined and focused by utilizing Medical Subject Headings (MeSH) keywords in our search strategy. The MeSH keywords used were "renal side effects" OR "immunotherapy" OR "cancer treatment." The studies reviewed encompassed a total of 48,529 participants among the 21 studies examined.

Knowledge and Attitude of Healthcare Providers Regarding Palliative Care and Related Factors: An Online Cross-Sectional Study.

BACKGROUND: Palliative care alleviates pain and enhances the quality of life of patients with life-threatening illnesses. Training programs are required to provide patients with proper care and advance their health because the expertise of healthcare personnel in palliative care is inadequate. AIM: We aimed to assess healthcare professionals' knowledge of palliative care because palliative care programs are infrequently used in Syria. METHODS: An online cross-sectional study was conducted between July 24, 2022, and August 28, 2022, to assess palliative care knowledge and applications among Syrian healthcare workers. The study questionnaire was designed in accordance with a previous study, and the inclusion criteria included Syrian healthcare workers, physicians, and nurses, as well as medical and nursing students. The first section of the questionnaire included sociodemographic information, while the second, third, and fourth sections assessed healthcare workers' experiences, knowledge, and attitudes toward palliative care, respectively. RESULTS: Of the 602 participants, 66.2% of the sample study were females. The majority of the respondents (72.9%) were medical students, with 18.8% residents and 8.3% nurses or nursing students. The majority of the participants (84%) correctly answered the question about pain treatment goals, while only a small percentage (5.3%) correctly answered the question about whether long-term opioid use was addictive. There were no statistically significant differences in the overall knowledge levels across demographic areas, genders, or specialties. Only 14 participants were considered knowledgeable about palliative care. Regarding attitudes toward palliative care, the three responses that received the greatest degree of agreement were "Pain relievers should be given as needed to terminally ill patients" (89.7%) and "Patients have the right to determine their own degree of psychosocial intervention" (81%). Residents in urban and rural areas scored markedly different in their attitudes. Students in their fifth year were 8.06 times more likely to have a positive attitude when compared to those in their first year. CONCLUSIONS: Our findings show that Syrian healthcare providers lack knowledge of palliative care. It is important to integrate palliative care into Syria's healthcare system to enhance the quality of life of patients who are approaching the end of their lives and to provide care for those who require it.