Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.

Neuromuscular diseases (NMD) are a group of neurological diseases that manifest with various clinical symptoms affecting different components of the peripheral nervous system, which play a role in voluntary body movements control. The primary objective of this study is to explore the diagnostic efficacy of a combined genetic and biochemical testing approach for patients with neuromuscular diseases with diverse presentations in a population with high rate of consanguinity. Genetic testing was performed using selected Next Generation Sequencing (NGS) gene panels and whole exome sequencing on the peripheral blood sample from the patients.

Genotype-Guided Asthma Treatment Reduces Exacerbations in Children: Meta-Analysis of Two RCTs.

Background: Long-acting beta2-agonists (LABA) in combination with inhaled corticosteroids (ICS) are commonly used to treat asthma, however, some children lack response to the addition of LABA. This might be partially due to the presence of the Arg16Gly polymorphism, encoded by rs1042713 G>A in the ADRB2 gene. Carrying the A allele (Arg16) at this variant has been associated with an increased risk of exacerbations despite LABA treatment.

Long-Term Clinical and Biological Prognostic Factors of Anti-NMDA Receptor Encephalitis in Children.

Background And Objectives: Anti-NMDAR encephalitis (NMDARE) is a severe neurologic condition, and recently, the NMDAR Encephalitis One-Year Functional Status (NEOS) score has emerged as a 1-year prognostic tool. This study aimed to evaluate NEOS score and biomarker (neurofilament light chains [NfL], total-Tau protein, glial fibrillary acidic protein, and serum cytokines) correlation with modified Rankin Scale (mRS), cognitive impairment, and clinical recovery in pediatric NMDARE over 2 years.

Methods: In this French multicenter observational study, 104 pediatric patients with NMDARE were followed for a minimum of 2 years.

Bridging Distances and Enhancing Care: A Comprehensive Review of Telemedicine in Surgery.

Telemedicine in surgical care has undergone rapid advancements in recent years, leveraging technologies such as telerobotics, artificial intelligence (AI) diagnostics, and wearable devices to facilitate remote evaluation and monitoring of patients. These innovations have improved access to care, reduced costs, and enhanced patient satisfaction. However, significant challenges remain, including technical barriers, limited tactile feedback in telesurgery, and inequities arising from digital literacy and infrastructure gaps.

Use of Granulocyte Transfusions in the Management of Severe Infections Among Children with Neutropenia.

Infections remain the leading cause of mortality among neutropenic patients with haematologic malignancies, making effective infection management crucial. Achieving a sufficient neutrophil count is essential for the elimination of pathogens. Granulocyte concentrate (GC) can be a treatment option for neutropenic patients with severe infections.

Innovations and Emerging Trends in Prostate Cancer Management: A Literature Review.

Prostate cancer (PC) is considered the second most diagnosed cancer in men worldwide. It remains a leading cause of cancer-related death. Recently, many modalities have been discovered and used in the diagnosis and management of PC, with the incorporation of many treatment options such as hormonal therapy, chemotherapy, targeted therapies, immunotherapy, and precision medicine.

The Protective Activity of Against Mercuric Chloride (HgCl)-Induced Renal Toxicity in Male Rats.

The purpose of this study was to test the protective effect of (WS) against the harmful effects of mercuric chloride (HgCl)-induced kidney failure at the histological, biochemical, and immune levels in Wistar rats. The study assessed the biochemical and immunological changes in five groups ( = 6): Group 1 (G1) was the negative control, and the other rats received a single subcutaneous dose of HgCl (2.5 mg/kg in 0.

Thyroid cytology in pediatric patients: a single-center study from 2015 to 2023-is there a necessity for distinct treatment approaches for patients with and without autoimmune thyroiditis?

The management of thyroid nodules is guided by the cytological classification provided by The Bethesda System for Reporting Thyroid Cytology. Notably, the biology of thyroid tumors in pediatric patients differs from that in adults, and there is limited research focused on pediatric cases. This study aimed to assess the effectiveness of the Bethesda system in pediatric patients treated at the largest tertiary pediatric thyroid center in Poland between 2015 and 2023.

Analysis of early and treatment related deaths among children and adolescents with acute myeloid leukemia in Poland: 2005-2023.

Background: A personalised approach to the treatment of acute myeloid leukemia (AML) in children and adolescents, as well as the development of supportive therapies, has significantly improved survival. Despite this, some patients still die before starting treatment or in an early phase of therapy before achieving remission. The study analysed the frequency, clinical features and risk factors for early deaths (ED) and treatment related deaths (TRD) of children and adolescents with AML.

Playing sport as a central-line carrier: a survey to collect the European pediatric intestinal failure centers' view.

Background: The administration of home parenteral nutrition improves quality of life for patients with intestinal failure, thus fostering their will to actively participate to social activities. Nevertheless, sports participation can be risky for patients with a central venous catheter (CVC). Despite literature thoroughly proving the positive impact of sports on motor-psychosocial development, no consistent evidence assessing its role on central-line complications is available.

Microvascular Inflammation of Kidney Allografts and Clinical Outcomes.

Background: The heterogeneous clinical presentation of graft microvascular inflammation poses a major challenge to successful kidney transplantation. The effect of microvascular inflammation on allograft outcomes is unclear.

Methods: We conducted a cohort study that included kidney-transplant recipients from more than 30 transplantation centers in Europe and North America who had undergone allograft biopsy between 2004 and 2023.

Multiseptate gallbladder in a pediatric pateint: A case report and review of literature.

Introduction: Multiseptate gallbladder (MSG) is an uncommon congenital condition characterized by internal septa dividing the gallbladder into multiple compartments. This condition poses unique challenges in diagnosis and management due to its rarity and varied clinical presentations.

Case Presentation: A 4-year-old female presented with a three-month history of colicky abdominal pain.

Insights Into Giant Intrapulmonary Teratomas in Infants: A Case Report and Literature Review.

Mature cystic teratomas exhibit a variety of tissues within their pathology. In adults, teratomas typically originate in the gonads. However, one of the rarest origins is the lung, making intrapulmonary teratoma (IPT) exceedingly uncommon.

Factors influencing circuit lifetime in paediatric continuous kidney replacement therapies - results from the EurAKId registry.

Background: Continuous kidney replacement therapy (CKRT) has recently become the preferred kidney replacement modality for children with acute kidney injury (AKI). We hypothesise that CKRT technical parameters and treatment settings in addition to the clinical characteristics of patients may influence the circuit lifetime in children.

Methods: The study involved children included in the EurAKId registry (NCT02960867), who underwent CKRT treatment.

Assessment of serum proprotein convertase subtilisin/kexin type 9 in pediatric sepsis syndrome.

Sepsis is a life-threatening condition that arises when the body's response to infection causes injury to its tissues and organs. Proprotein convertase subtilisin/kexin type 9 (PCSK9) is an enzyme released in response to the drop in cholesterol level occurring in sepsis. Our study aimed to evaluate the prognostic role of serum Proprotein convertase subtilisin/kexin type 9 (PCSK9) level in children with sepsis and severe sepsis.

Development and initial validation of parent and child versions of the Juvenile Arthritis Disease Activity Score.

Objective: To develop parent- and child-centered versions of the Juvenile Arthritis Disease Activity Score (JADAS) and to provide preliminary evidence of their validity.

Methods: Validation analyses were conducted on two large multinational datasets of patients with juvenile idiopathic arthritis (JIA) and included assessment of construct validity, internal consistency and structure, discriminative validity, responsiveness to change, and predictive validity.

Results: The parJADAS and patJADAS include four parent/patient-reported outcomes, each measured on a 0-10 scale: assessment of overall disease activity; rating of pain intensity; assessment of activity of joint disease; duration of morning stiffness.

Diagnostic evaluation of patients with epileptic spasms in the era of next-generation sequencing.

Objective: Epileptic spasms (ES) can be caused by a variety of etiologies. However, in almost half of cases, the etiology is unidentified. With the advent of next-generation sequencing (NGS), the recognition of genetic etiologies has increased.

Genito-urinary Reconstruction in Female Children With Congenital Adrenal Hyperplasia: Favorable Surgical Outcomes can be Achieved by Contemporary Techniques and a Dedicated Multidisciplinary Management.

Introduction: Congenital adrenal hyperplasia (CAH) is the most common cause of genital atypia in females. A dedicated multidisciplinary team (MDT) should be included for an optimal management. Here, we aimed to review our surgical experience and to assess long-term urinary, gynecological and endocrine outcomes after primary genitoplasty in this specific cohort.