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Maple Syrup Urine Disease (MSUD) disease is a defect in the function of the Branched-chain 2-ketoacid dehydrogenase complex (BCKDH). It is caused by pathogenic biallelic variants in BCKDHA, BCKA decarboxylase, or dihydrolipoamide dehydrogenase. The brain is the major organ involved in MSUD. MSUD happens in about 1 in 86,800 to 185,000 live births. According to some diversity in the management of Iranian patients with MSUD, the development of a national guideline is essential. This guideline is provided through a literature search on articles in PubMed, Scopus, Web of Sciences, Cochrane, and Embase databases from 2001 to 2022 accompanied by a consensus of physicians of different centers in Iran who are experts in the diagnosis and management of this disease. This article considers pathogenesis, epidemiology, clinical manifestations, diagnosis, treatment, and monitoring of MSUD patients with limited recourse.

Mitochondrial disorders are a heterogeneous group of inherited metabolic diseases resulting from dysfunctions in oxidative phosphorylation. These conditions predominantly affect high-energy-demand organs such as the brain, heart, liver, and muscles, leading to diverse clinical manifestations and diagnostic challenges. This article presents the first comprehensive Iranian guideline for the diagnosis and management of mitochondrial diseases, developed through an evidence-based and consensus-driven methodology. We conducted a structured literature review across major biomedical databases from 2000 to 2023 and engaged a multidisciplinary panel of Iranian experts to establish context-specific recommendations. The guideline covers clinical presentations, laboratory biomarkers, neuroimaging features, genetic diagnostics, and treatment approaches including “cocktail therapy” and acute management protocols. It also integrates a mitochondrial disease scoring system to standardize diagnosis and provides detailed insights into safe anesthesia practices for affected individuals. Special attention is given to practical implementation in resource-limited settings. These guidelines aim to enhance diagnostic accuracy, optimize management strategies, and improve the quality of life for patients with mitochondrial disorders across Iran and similar healthcare systems.

Background Permanent neonatal diabetes mellitus (PNDM) presents with dehydration and hyperglycemia, which usually occurs during the first 12 months of life. Activating mutations of beta-cell adenosine triphosphate-sensitive potassium [KATP] channel subunits that cause opening of the channel are associated with PNDM. Some patients with PNDM respond to administration of a sulfonylurea derivative, which has long action on blood glucose even during hypoglycemia and has an apoptotic effect on beta cells. However, there have been no reports regarding treatment with meglitinide (repaglinide), which has rapid and short duration of action during the rise in blood glucose after meals that is more similar to beta cell function. It has no effects during hypoglycemia, so it does not cause neurological damage, and has no apoptotic effect on beta cells. We report herein the effects of repaglinide administration in the management and clinical outcome of two patients with PNDM during 9 and 10 years of follow-up. Case presentation Two Iranian infants were brought to our institution with poor general condition, dehydration, lethargy, and poor feeding. They had diabetic ketoacidosis at 52 days and 3.5 months of age, respectively. Their genetic analysis revealed mutations in the KCNJ11 gene encoding KIR6.2, so they both had PNDM. After treatment of diabetic ketoacidosis with insulin, they responded to sulfonylurea (glibenclamide) treatment, but were switched to repaglinide because of blood sugar fluctuations in terms of hyper- and hypoglycemia. Repaglinide was administered with the dosage of 0.04 mg/kg/day divided before every meal. Results The patients were 10 and 9 years old at the last visit, with normal growth parameters. The values of self-monitored blood glucose were well-controlled, and the hemoglobin A1C (HbA1C) levels ranged from 3.6 to 6.4% during the follow-up period. There was no complication of diabetes, neurological disorder, or adverse effects related to repaglinide. Conclusion In every neonate or infant < 6 months of age with diabetes mellitus, PNDM should be considered. A trial of oral repaglinide can be performed and substituted for glibenclamide for prevention of hypoglycemia, neurological damage, and apoptosis of beta cells during long-term administration.

Growth hormone therapy has been shown to be effective in treating a variety of growth-related disorders. This post-marketing study assessed the effectiveness and safety of Cinnatropin®, a biosimilar growth hormone product. The data from the Orchid-Life Registry, which collects long-term effectiveness and safety data from patients receiving Cinnatropin®, was analyzed. A total of 20,465 patients were enrolled in this study, including 405 subjects in the longitudinal analysis. The most common diagnosis was growth hormone deficiency. The mean (SD) height standard deviation score (HSDS) increased from − 1.71 (1.31) to − 1.32 (1.26) in the cross-sectional population and from − 1.84 (1.18) to − 1.49 (1.13) in the longitudinal population over a period of 12 months. The baseline age exhibited an inverse correlation with changes in HSDS, suggesting that older individuals had smaller increments. Over 80% of prepubertal patients reached targeted height velocity after 1 year of treatment. The majority of adverse events were categorized as non-serious, designated as grade one in severity (mild). The most frequently observed adverse events were injection site reaction and headache. Conclusion : The study indicates that Cinnatropin® treatment results in height improvement over 1 year with an acceptable safety profile. What is known: •  Several conditions, including growth hormone deficiency, require growth hormone treatment. •  The use of  biosimilar growth hormone products is associated with better medication availability and lower cost. What is new: •  This registry-based study evaluated the safety and effectiveness of a biosimilar somatropin (Cinnatropin®) in patients mostly diagnosed with growth hormone deficiency. •  Cinnatropin® resulted in almost 0.4 increase in height standard deviation score (HSDS) over a period of 12 months. •  More than 80% of children under the age of 10/11 (girls/boys) reached the goals of height velocity. •  Older patients showed smaller increases in HSDS. •  The safety profile of Cinnatropin® was shown to be acceptable, as the majority of adverse events were mild and non-serious, with injection site reactions and headache being the most frequent ones.

To date, there are very few reports regarding patients with bi-allelic variants in the NIN gene. There is one report of two sisters with severe short stature, microcephaly, and developmental delay with compound heterozygote missense variants in the NIN gene and one paper reporting a homozygote variant in the NIN gene with progressive, high-frequency sensorineural hearing loss in four siblings. The only other report is of four members of a consanguineous family with spondyloepimetaphyseal dysplasia with joint laxity-leptodactylic type (SEMDJL2) with a homozygous variant in the NIN gene. Given the scarcity of cases with NIN variants, the relationship between the phenotype and gene is provisional and our case broadens the phenotypic spectrum regarding the phenotype related to NIN gene variants. Here, we report a patient with a homozygous variant in exon 2 of the NIN gene defined as c.3407_3409del (p.Glu1136del). Clinical findings in our patient were characteristic of microcephalic primordial dwarfism (MPD) including microcephaly, prominent nose, intellectual disability and severe short stature. In addition, this patient had bilateral hearing loss, which was not reported in the patients with MPD and variant in the NIN gene before. We identified a novel p.Glu1136del variant in the NIN gene, predicted to disrupt critical centrosome-related pathways. WES was reanalyzed for other genes which are known for deafness and no variant was identified. A family history of deafness was not present in the pedigree. This is the first report of a patient with MPD and deafness associated with the NIN gene.

Molecular diagnostics and biomarkers are some of the most exciting and innovative developments in today's medicine, it is a paradigm shift in the diagnostics, progression monitoring, and treatment of certain diseases. This field incorporates aspects of molecular biology genetics and clinical diagnostics to look for unique biomolecules that are associated with several health-related conditions diseases or treatment outcomes. The incorporation of these technologies has helped reduce the application of the classical signs and symptoms diagnosis to molecular-based diagnosis. The advances made in receptor technology have been highly notable in the expansion of new molecular diagnostics for personalized medicines. This change in thinking has been made possible by the new opportunities in the understanding of genomic, proteomic, and other '-omics’ sciences, as well as the improvement of analytical assets and supports. Such changes have allowed diagnosing diseases at earlier stages, controlling the effectiveness of treatment, and determining outcomes of patients' treatment. The material presented in this guide provides an overview of molecular diagnostics and biomarkers, technologies, and applications. We will introduce and review nucleic acid-based diagnostics, protein and circulating biomarkers, epigenomic markers, and point-of-care (POCT) systems. Further, the scope of biomarkers and biomarker discovery and validation procedure, companion diagnostics in personalized medicine, and future trends of molecular diagnostics will be presented. At every turn of this speech, we point out how these developments are enhancing patient care and transforming medicine.

This study explores the core competencies in medicine, nursing, and dentistry, focusing on both their shared and unique aspects. Shared competencies include ethical practices, effective communication, and a patient-centered approach, which are essential for delivering high-quality healthcare. Distinct competencies reflect the specialized nature of each profession, such as diagnostic acumen in medicine, holistic care in nursing, and oral health expertise in dentistry. The paper emphasizes the importance of interdisciplinary collaboration to bridge gaps, enhance education, and optimize patient outcomes. By identifying overlaps and differences, the study provides insights into improving healthcare training and fostering a more integrated approach to care delivery.

The evolution in root canal therapy over the past few decades has been toward improving treatment outcomes and long-term success. One of the most important factors influencing the success of RCT is the accurate establishment of the apical limit or working length, where cleaning, shaping, and filling should precisely terminate within the root canal. This limit is very important since both over- and under-instrumentation could equally lead to postoperative discomfort, complications, and potential treatment failure. This paper reviews the different methods of determination of the apical limit, including radiographic techniques, electronic apex locators (EALs), tactile sensation, and cone-beam computed tomography (CBCT). The advantages and limitations of each technique are diverse: radiography is widespread but prone to distortion; EALs are highly accurate but environmentally sensitive.Many studies have proven that accurate apical limit management is strongly related to the successful result of RCT. Combined EAL with radiographic methods demonstrated very high success rates in managing difficult canal anatomies. This review is to stress the importance of precise apical limit determination in reducing complications and enhancing the long-term results of RCT, while also presenting the potential of emerging technologies in further sharpening endodontic accuracy.The root canal therapy forms the basis of endodontic treatment inorder that teeth that could otherwise be lost because of infection or necrosis may be saved. Success in RCT depends upon effective debridement, disinfection, and sealing of the root canal system with special care given to the apical limit or the endpoint of instrumentation and obturation. This article reviews the concept of apical limits, explores the different techniques used to establish these limits, and discusses their influence on success rates in root canal therapy.

Introduction: Many interdisciplinary efforts are actually regarding much of the preoperative patient preparation that could bring outstanding surgical performance with fewer complications and better recovery outcomes. It is also very much a true team effort: briefed and administered by nurses, general surgeons, emergency medicine doctors, anesthetists, radiologists, pharmacy technicians, and all other health care technicians, everyone contributes towards complete evaluation, coordinated plan of action, and skills to educate patient aside from prerequisites of successful surgical program.Aim of work: To the expanded role of nursing beyond traditional bedside care, focusing on the contributions of nurses in leadership, research, and community impact.Methods: We conducted a comprehensive search in the MEDLINE database's electronic literature using the following search terms: Nursing, Leadership, Research, and Community Impact. The search was restricted to publications from 2016to 2024 in order to locate relevant content. We performed a search on Google Scholar to locate and examine academic papers that pertain to my subject matter. The selection of articles was impacted by certain criteria for inclusion.Results: The publications analyzed in this study encompassed from 2016 to 2024. The study was structured into various sections with specific headings in the discussion section.Conclusion: Changes of nursing are going beyond the bedside, and this reflects the dynamic nature of healthcare as well as the complexity of patient needs. Case in point is their work in community involvement through leadership and research-in an effort to redefine their roles as an integral part of society's health and well-being. By putting together clinical expertise with advocacy, innovation, and collaboration, nurses will ever be at the forefront of the ongoing transformation of healthcare. As the demand for comprehensive and equitable healthcare grows, so too will the importance of empowering nurses to fulfill their expanded roles. Such health systems will be capable of harnessing the potential of nursing fully to achieve better outcomes for individuals and communities alike. The profession becomes that much more inspirational and transformative, and the impact goes well beyond global health.

This main purpose of this paper is to develop an algorithm to find the shortest path on a network in which the weights of the edges are represented by bipolar neutrosophic numbers. Finally, a numerical example has been provided for illustrating the proposed approach.