Non-Invasive Ventilation Failure in Pediatric ICU: A Machine Learning Driven Prediction.

: Non-invasive ventilation (NIV) has emerged as a possible first-step treatment to avoid invasive intubation in pediatric intensive care units (PICUs) due to its advantages in reducing intubation-associated risks. However, the timely identification of NIV failure is crucial to prevent adverse outcomes. This study aims to identify predictors of first-attempt NIV failure in PICU patients by testing various machine learning techniques and comparing their predictive abilities.

Stevens-Johnson induced by imiquimod 5% cream: a case report.

Imiquimod 5% cream is an approved treatment for actinic keratoses, superficial basal cell carcinomas, and anogenital warts. Severe systemic side effects associated with imiquimod 5% cream are rare, although a few cases of erythema multiforme and Stevens-Johnson syndrome have been described. We present a case of Stevens-Johnson syndrome associated with topical treatment with imiquimod of two superficial basal cell carcinomas.

Daratumumab in pediatric relapsed/refractory acute lymphoblastic leukemia or lymphoblastic lymphoma: the DELPHINUS study.

Patients with relapsed/refractory acute lymphoblastic leukemia (ALL) or lymphoblastic lymphoma (LL) have poor outcomes compared with newly diagnosed, treatment-naïve patients. The phase 2, open-label DELPHINUS study evaluated daratumumab (16 mg/kg IV) plus backbone chemotherapy in children with relapsed/refractory B-cell ALL (n = 7) after ≥2 relapses, and children and young adults with T-cell ALL (children, n = 24; young adults, n = 5) or LL (n = 10) after first relapse. The primary end point was complete response (CR) in the B-cell ALL (end of cycle 2) and T-cell ALL (end of cycle 1) cohorts, after which patients could proceed off study to allogeneic hematopoietic stem cell transplant (HSCT).

Outcome of primary hemophagocytic lymphohistiocytosis: a report on 143 patients from the Italian Registry.

Primary hemophagocytic lymphohistiocytosis (pHLH) is a severe, life-threatening hyperinflammatory syndrome caused by defects in genes of the granule-dependent cytotoxic pathway. Here we investigated the clinical presentation and outcome in a large cohort of 143 patients with pHLH diagnosed in the last 15 years and enrolled in the Italian registry. The median age at diagnosis was 12 months (interquartile range, 2-81), and 92 patients (64%) fulfilled the HLH-2004 criteria.

Severe Lactic Acidosis Caused by Thiamine Deficiency in a Child with Relapsing Acute Lymphoblastic Leukemia: A Case Report.

Lactic acidosis is characterized by an excessive production of lactic acid or by its impaired clearance. Thiamine deficiency is an uncommon cause of lactic acidosis, especially in countries where malnutrition is rare. We describe the case of a 5-year-old boy who presented with a central nervous system relapse of acute lymphoblastic leukemia.

A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association.

GATA2 deficiency is a rare disorder encompassing a broadly variable phenotype and its clinical picture is continuously evolving. Since it was first described in 2011, up to 500 patients have been reported. Here, we describe a cohort of 31 Italian patients (26 families) with molecular diagnosis of GATA2 deficiency.

Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?

Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder of lymphocyte homeostasis classically due to mutation of FAS, FASL, and CASP10 genes (ALPS-FAS/CASP10). Despite recent progress, about one-third of ALPS patients does not carry classical mutations and still remains gene orphan (ALPS-U, undetermined genetic defects). The aims of the present study were to compare the clinical and immunological features of ALPS-FAS/CASP10 versus those of ALPS-U affected subjects and to deepen the genetic characteristics of this latter group.

Hematopoietic stem cell transplantation for inborn errors of immunity: 30-year single-center experience.

Allogeneic hematopoietic stem cell transplantation (allo-HSCT) represents an effective treatment for a variety of inborn errors of immunity (IEI). We report the experience of children affected by IEI who received allo-HSCT over a period of 32 years at IRCCS Istituto Giannina Gaslini, Genoa, Italy. HSCTs were performed in 67 children with IEI.

Papulopustular Rosacea Treated With Ivermectin 1% Cream: Remission of the Demodex Mite Infestation Over Time and Evaluation of Clinical Relapses.

Introduction: Topical ivermectin is an anti-inflammatory and anti-Demodex drug for papulopustular rosacea. Rosacea is a relapsing disease and the time between recurrences should be considered alongside efficacy.

Objectives: The aims of this study were to assess the time of first relapse and relapse rates of Demodex mite infestation and papulopustular rosacea.

PAX5 fusion genes are frequent in poor risk childhood acute lymphoblastic leukaemia and can be targeted with BIBF1120.

Background: Despite intensive risk-based treatment protocols, 15% of paediatric patients with B-Cell Precursor Acute Lymphoblastic Leukaemia (BCP-ALL) experience relapse. There is urgent need of novel strategies to target poor prognosis subgroups, like PAX5 translocated.

Methods: We considered 289 childhood BCP-ALL cases consecutively enrolled in Italy in the AIEOP-BFM ALL2000/R2006 protocols and we performed extensive molecular profiling, integrating gene expression, copy number analyses and fusion genes discovery by target-capture NGS.

Dermatoskopisch kontrollierte, schmalere Resektionsränder bei Basalzellkarzinomen an Kopf und Hals: Retrospektive Fallkontrollstudie.

Hintergrund: Unbehandelt kann das Basalzellkarzinom (BCC) erhebliche Gewebezerstörungen verursachen. Die komplette chirurgische Exzision ist die Behandlung der Wahl. Allerdings stellt es besonders im Gesichts- und Halsbereich eine Herausforderung dar, den Tumor vollständig zu entfernen und möglichst viel gesundes Gewebe zu erhalten.

New-onset vitiligo following COVID-19 disease.

Background: Coronavirus disease 2019 (COVID-19) disease and vaccines have been associated to various skin reactions, which are mostly similar amongst them. New onset of vitiligo and hypopigmentations have been described following COVID-19 vaccination, but never after COVID-19 infection.

Objectives: We present the case of a 45-year-old woman, who developed vitiligo 2 weeks after COVID-19 disease.

Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report.

Cartilage-hair hypoplasia (CHH) is a syndromic immunodeficiency characterized by metaphyseal dysplasia, cancer predisposition, and varying degrees of anemia. It may present as severe combined immunodeficiency in infancy, or slowly progress until fully manifesting in late adolescence/adulthood. No targeted treatment is currently available, and patients are usually managed with supportive measures, or are offered a bone marrow transplant if the clinical phenotype is severe and a suitable donor is available.

Dermatoscopically narrowed surgical margins for head and neck basal cell carcinoma: A retrospective case-control study.

Background: Basal cell carcinoma (BCC) can cause extensive tissue damage if untreated. Complete surgical excision is the treatment of choice, but especially in the head-and neck area, defining both radical and healthy skin sparing surgical margins is complex.

Materials And Methods: Excised, small (≤ 1 cm), BCCs of the head and neck were retrospectively analyzed, comparing histological properness of surgical margins after clinical-dermatoscopical preoperative evaluation (cases), vs.

Lichen planus flare following COVID-19 vaccination: A case report.

We report the third case of cutaneous lichen planus (LP) following COVID-19 BNT162b2 vaccination in a 59-year-old woman with previous LP. The reactivation of LP in patients with dormant LP suggests a possible vaccine-induced immune dysregulation. We suggest that the already described vaccine-induced upregulation of Th1 response may play a relevant role in LP reactivation, through an increase in inflammatory cytokines involved in the pathogenesis of LP.

Cutaneous reactions to COVID-19 vaccine at the dermatology primary care.

Introduction: Coronavirus disease 2019 (COVID-19) vaccines can cause adverse reactions, mainly from vaccine-induced immune responses. Some of these may also involve the skin and worry unaware patients. A better understanding of such adverse reactions may reduce concerns and help promote the vaccination of large population groups.