Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency.

Background: Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease. There are no available targeted therapies for MSD.

Methods: We engineered a viral vector (AAV9/SUMF1) to deliver working copies of the SUMF1 gene and tested the vector in Sumf1 knock out mice that generally display a median lifespan of 10 days.

Minimally Invasive Treatment of Aneurysmal Bone Cysts with Gelified Ethanol (DiscoGel®): Evaluation of Feasibility, Safety, and Efficacy.

Introduction: Aneurysmal bone cysts are locally aggressive bone lesions. The aim of this study was to evaluate safety and effectiveness of radio-opaque gelified ethanol sclerotherapy in treating primary aneurysmal bone cyst.

Materials And Methods: In this single-center, retrospective study (January 1st, 2012, to June 30th, 2024), 32 patients with primary aneurysmal bone cysts were treated with percutaneous sclerotherapy using radio-opaque gelified ethanol at various skeletal sites.

Comparison of aesthetic perception and acceptability of silver diamine fluoride staining between Spanish and Italian parents.

Assessing parental aesthetic acceptability of Silver Diamine Fluoride (SDF) staining is crucial for its potential implementation in paediatric dentistry in different regions. This study aimed to compare aesthetic perceptions and acceptance of SDF staining between Spanish and Italian parents, and assess weather acceptability is influenced by location, child's cooperation, or demographic background. A cross-sectional comparative study was conducted among Spanish and Italian parents at three university dental clinics, using a validated Italian version of the questionnaire "Parental perceptions of Silver Diamine Fluoride Dental Color Changes".

Social epidemiology of early adolescent nutrition.

Background: This study aimed to investigate associations between sociodemographic factors and dietary intake among a diverse population of early adolescents ages 10-13 years in the United States.

Methods: We examined data from the Adolescent Brain Cognitive Development (ABCD) Study in Year 2 (2018-2020, ages 10-13 years, N = 10,280). Multivariable linear regression models were conducted to estimate the adjusted associations between sociodemographic factors (age, sex, race and ethnicity, household income, parental education) and dietary intake of various food groups, measured by the Block Kids Food Screener.

Effective eradication of acute myeloid leukemia stem cells with FLT3-directed antibody-drug conjugates.

Refractory disease and relapse are major challenges in acute myeloid leukemia (AML) therapy attributed to survival of leukemic stem cells (LSC). To target LSCs, antibody-drug conjugates (ADCs) provide an elegant solution, combining the specificity of antibodies with highly potent payloads. We aimed to investigate if FLT3-20D9h3-ADCs delivering either the DNA-alkylator duocarmycin (DUBA) or the microtubule-toxin monomethyl auristatin F (MMAF) can eradicate quiescent LSCs.

Alleviating symptoms of paediatric acute rhinosinusitis and acute otitis media with otorrhea using nasal-spraying Bacillus probiotics: a randomized controlled trial.

Acute rhinosinusitis (ARS) in children may be accompanied by acute otitis media (AOM) which is often associated with bacterial co-infections. These conditions are among the primary reasons that children visit hospitals and require antibiotic treatment. This study evaluated the efficacy of the nasal-spraying probiotics (LiveSpo Navax containing 5 billion Bacillus subtilis and B.

Next generation sequencing of multiple SARS-CoV-2 infections in the Omicron Era.

Since the emergence of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), the need for an effective vaccine has appeared crucial for stimulating immune system responses to produce humoral/cellular immunity and activate immunological memory. It has been demonstrated that SARS-CoV-2 variants escape neutralizing immunity elicited by previous infection and/or vaccination, leading to new infection waves and cases of reinfection. The study aims to gain into cases of reinfections, particularly infections and/or vaccination-induced protection.

A compendium of Amplification-Related Gain Of Sensitivity genes in human cancer.

While the effect of amplification-induced oncogene expression in cancer is known, the impact of copy-number gains on "bystander" genes is less understood. We create a comprehensive map of dosage compensation in cancer by integrating expression and copy number profiles from over 8000 tumors in The Cancer Genome Atlas and cell lines from the Cancer Cell Line Encyclopedia. Additionally, we analyze 17 cancer open reading frame screens to identify genes toxic to cancer cells when overexpressed.

Evidence-Based Surgical Guidelines for Treating Children With Rhabdomyosarcoma.

Background: Surgery remains the cornerstone of treatment for rhabdomyosarcoma (RMS) in children. However, there is considerable variation in surgical management practices worldwide, highlighting the need for standardized Clinical Practice Guidelines (CPG).

Methods: The CPG development involved assembling a multidisciplinary group, prioritizing 10 key topic areas, conducting evidence searches, and synthesizing findings.

Searching for monogenic autoimmune etiology in patients with type 1 diabetes onset under 30 months of age.

Introduction: The most frequent form of diabetes in pediatric patients is polygenic autoimmune diabetes (T1D), but single-gene variants responsible for autoimmune diabetes have also been described. Both disorders share clinical features, which can lead to monogenic forms being misdiagnosed as T1D. However, correct diagnosis is crucial for therapeutic choice, prognosis and genetic counseling.

Not Like They Used To: The Decline of Procedural Competency in Medical Training.

As a primary care pediatrician trained before work hour restrictions were enacted, I spent hours mastering procedures that trainees today rarely perform. The changing landscape of health care clinician roles, technology, and work hour restrictions have all contributed to a remarkable decline in trainees' procedural competence which has significant negative effects for patients, health care systems, and physicians themselves. I suggest simulation, live training, mentoring, and scheduled opportunities as ways to reemphasize the importance of learning these technical skills.

Affirmative Action-A Crack in the Door to Higher Education.

The impact of the Supreme Court of the United States ruling against race-conscious admissions extends beyond college admissions to professional schools. Based partially on the idea that enough time had elapsed for achievement of the stated goals of affirmative action, the court ruled race-conscious admissions are unconstitutional under the 14th Amendment's Equal Protection Clause. The ruling left a crack in the door to higher education, however, allowing students to write an essay showing how race or ethnicity affected their lives.

Breaking ICD Codes: Identifying Ambiguous Respiratory Infection Codes via Regional Diagnosis Heterogeneity.

Purpose: We aimed to analyze regional variations in the assignment of (ICD-10) codes to acute respiratory infections, seeking to identify notable anomalies that suggest diverse diagnoses of the same condition.

Methods: We analyzed national weekly diagnosis data for acute respiratory infections (ICD-10 codes J00-J22) in Poland from 2010 to 2019, covering all 380 county-equivalent administrative regions and encompassing 292 million consultations. Data were aggregated into age brackets.

Characterizing olfactory brain responses in young infants.

Odor perception plays a critical role in early human development, but the underlying neural mechanisms are not fully understood. To investigate these, we presented appetitive and aversive odors to infants of both sexes at one month of age while recording functional magnetic resonance imaging (fMRI) and nasal airflow data. Infants slept during odor presentation to allow MRI scanning.

Causes and determinants of infant mortality using verbal autopsy and social autopsy methods in a rural population of Odisha: a community-based matched case-control study.

Background: The avoidable causes of infant mortality should be identified, and interventions should be made to improve the infant mortality rate. The cause of infant deaths should be assessed in both medical and social contexts.

Objectives: We aimed to determine the medical causes of infant mortality by verbal autopsy and its determinants in two rural blocks of the Khordha district of Odisha and assess the pathway of care and delay in seeking care for the illness preceding infant death using the three-delay model.

Strengthening advanced therapy for sickle cell disease in Africa: experience from sickle cell disease centre in Dar es Salaam, Tanzania.

Despite progress in healthcare services for individuals living with sickle cell disease (SCD) in Africa, substantial gaps remain in advanced treatments for SCD. To help address this burden, Tanzania has established one of the largest single-centre SCD programmes in the world and developed an advanced therapy programme for SCD focused on patient engagement and advocacy, clinical activities involving exchange blood transfusion (ExBT) and haematopoietic stem cell transplant (HSCT), gene therapy (GT) preparedness, and enabling partnerships. This report describes the programme's genesis, structure and progress achieved.

Unique presentation of cavernous sinus thrombosis in a paediatric patient.

A paediatric patient presented with periorbital oedema and fever. Initially, there was low suspicion for cavernous sinus thrombosis and orbital cellulitis due to the presence of full extraocular movements. However, given worsening bilateral periorbital oedema, lethargy and sepsis, neuroimaging was performed demonstrating inflammation and enhancement of the leptomeninges and left cavernous sinus, and raising concern for cavernous sinus thrombosis in the setting of orbital cellulitis.

Post-infectious acute cerebellar ataxia in a young adult.

Acute cerebellar ataxia is a clinical syndrome that involves loss of balance and coordination, typically within less than 72 hours. It usually presents in children and rarely affect adults. A woman in her early 20s presented with acute onset dizziness, vertigo, truncal ataxia and dysarthria 2 weeks following an acute viral illness.

Adnexal torsion in middle childhood: a rare cause of abdominal pain.

Adnexal torsion is a rare cause of abdominal pain in middle childhood and, in general, the diagnosis is often delayed due to the lack of specificity of symptoms and imaging tests. We describe the case of a girl in middle childhood who came to the emergency department for pain in the right iliac fossa of approximately 15 hours of evolution associated with partial refusal of food intake and vomiting. The initial examination showed normal vital signs, a soft abdomen, pain on palpation in the lower region, but no signs of peritoneal irritation, a mild leucocytosis with no other signs of infection and the initial abdominal ultrasound showed no objective pathology.

Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth.

Lateralised overgrowth (LO) is characterised by the asymmetric increase in the size of any part of the body exceeding 10% compared with the unaffected contralateral one. LO is a key feature in various syndromic overgrowth disorders, such as Beckwith-Wiedemann spectrum and -related overgrowth spectrum (PROS). However, it can also present as isolated (ILO).

An experimental comparison and user evaluation of three different dried plasma products.

Background And Objectives: Access to blood components in pre-hospital bleeding resuscitation is challenging. Dried plasma is a logistically superior alternative, and new products are emerging. Therefore, we aimed to evaluate laboratory and practical differences in three differently produced dried plasma products.