The dilemma of X-linked agammaglobulinemia carriers.

Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.

Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.

Long-Term Eosinophil Depletion: A Real-World Perspective on the Safety and Durability of Benralizumab Treatment in Severe Eosinophilic Asthma.

Benralizumab is an anti-IL-5 receptor alpha monoclonal antibody that induces the near-complete depletion of eosinophils. This study aimed to evaluate the long-term safety and effectiveness of benralizumab in patients with severe eosinophilic asthma (SEA) over an extended 48-month follow-up period, offering one of the longest real-world perspectives available. This was a single-arm, retrospective, observational, multicenter study involving 123 SEA patients treated with benralizumab at a dosage of 30 mg every 4 weeks for the first 3 doses and then every 8 weeks.

Predictors of Splenectomy Response in Immune Thrombocytopenia: A Multicentric Italian Study.

: Splenectomy leads to a high rate of remission in chronic primary immune thrombocytopenia (ITP), but its unpredictable long-term positive outcomes and that it is a irreversible surgical approach discourage clinicians and patients. The identification of predictors of response may redefine the timing of splenectomy. In this retrospective, multicentric study we aimed to investigate clinical-histological predictors of splenectomy response in ITP patients and provide an easy-to-use score to predict splenectomy response in ITP.

Ectopic olfactory neuroblastoma is associated with increased frequency of syndrome of inappropriate antidiuretic hormone secretion and reduced disease control: Case series with systematic review and pooled analysis.

Introduction: Olfactory neuroblastoma (ONB) is a rare malignant tumor originating from the olfactory neuroepithelium, typically within the sinonasal cavity. Cases of ONB originating outside of the olfactory cleft area are extremely rare and are referred to as "ectopic" (eONB), in contrast to "orthotopic" tumors (oONB). ONB has been associated with paraneoplastic syndromes (PNSs), including the syndrome of inappropriate antidiuretic hormone secretion (SIADH).

Real-world adoption of left bundle branch area pacing: Insights from the Conduction-System pacing Italian Network Group (C-SING).

Background And Objective: Left bundle branch area pacing (LBBAP) is increasingly used for treating bradycardia and heart failure. However, real-world data are limited. The Conduction-System Pacing Italian Network Group (C-SING) collected prospective data on LBBAP procedures in a nationwide context.

Blue light diode laser for treating benign maxillofacial vascular lesions: comparison of various techniques using the same diode laser.

Maxillofacial benign vascular lesions may require removal for aesthetic purpose or bleeding. Lasers have been substituting traditional excision. Fifteen vascular lesions were treated with different Blue Diode Laser protocols: laser forced dehydration (LFD), intralesional coagulation (ILC), surgical excision.

Pott's Puffy Tumor in Young Age: A Systematic Review and Our Experience.

: Pott's Puffy Tumor (PPT) in young-age patients is a rare clinical entity characterized by osteomyelitis of the frontal bone with a subperiosteal abscess collection. Previous reviews primarily consist of small, retrospective case series and anecdotal reports. This study aims to present the largest, most up-to-date systematic review of essential clinical findings, diagnostic modalities, microbiologic considerations, and treatment approaches for managing PPT in pediatric and adolescent populations.

Where AIRE we now? Where AIRE we going?

Purpose Of Review: The purpose of the review is to describe the most recent advancement in understanding of the pivotal role of autoimmune regulator ( AIRE ) gene expression in central and peripheral tolerance, and the implications of its impairment in the genetic and pathogenesis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) manifestations with insight into possible treatment options.

Recent Findings: AIRE gene expression has an important role of central and peripheral tolerance. Different AIRE gene mutations cause APECED, whereas polymorphisms and some variants may be implicated in development of other more frequently autoimmune diseases.

The biological basis for current treatment strategies for granulomatous disease in common variable immunodeficiency.

Purpose Of Review: The pathogenesis of granulomatous disease in common variable immunodeficiency (CVID) is still largely unknown, which hampers effective treatment. This review describes the current knowledge on the pathogenesis of granuloma formation in CVID and the biological basis of the current treatment options.

Recent Findings: Histological analysis shows that T and B cells are abundantly present in the granulomas that are less well organized and are frequently associated with lymphoid hyperplasia.

Underexplored Areas of Photobiomodulation in Oral Oncology: An Expert Analysis.

This study aimed to review the current body of literature on underexplored areas of photobiomodulation (PBM) for preventing and/or treating oral adverse events. Recent studies suggest that PBM may offer potential benefits in managing cancer-related toxicities other than oral mucositis. Nevertheless, further research to establish conclusive evidence is still missing.

ERN eUROGEN Guidelines on the Management of Anorectal Malformations, Part IV: Organization of Care and Communication between Providers.

Introduction:  Being born with an anorectal malformation (ARM) can have profound and lifelong implications for patients and parents. Organization of care and communication between health care providers is an overlooked area of patient care. The European Reference Network eUROGEN for rare and complex urogenital conditions assembled a panel of experts to address these challenges and develop comprehensive guidelines for the management of ARM.

Prospective Evaluation of Transsphenoidal Pituitary Surgery in Patients with Cushing's Disease: Delayed Remission and the Role of Postsurgical Cortisol as a Predictive Factor.

Background: Transsphenoidal surgery is the treatment of choice for Cushing's disease. Successful surgery is associated with subnormal postoperative serum cortisol concentrations and cortisoluria levels, which may guide decisions regarding immediate reoperation. Remission is defined as the biochemical reversal of hypercortisolism with the re-emergence of diurnal circadian rhythm.

Cardiogenic shock in general intensive care unit: a nationwide prospective analysis of epidemiology and outcome.

Aims: Cardiogenic shock (CS) is a life-threatening disease burdened by a mortality up to 50%. The epidemiology has changed with non-ischaemic aetiologies being predominant, although data were mainly derived from patients admitted to dedicated acute cardiac care. We report the epidemiology and outcome of patients with CS admitted to general intensive care unit (ICU).

ERN eUROGEN Guidelines on the Management of Anorectal Malformations Part III: Lifelong Follow-up and Transition of Care.

Introduction:  Anorectal malformations (ARMs) are complex congenital anomalies of the anorectal region, oftentimes also affecting the genitourinary system. Although successful surgical correction can often be achieved in the neonatal period, many children will experience functional problems in the long term. The European Reference Network for rare and complex urogenital conditions (eUROGEN) assembled a panel of experts to address these challenges and develop comprehensive guidelines for the management of ARM.

Congenital Pulmonary Airway Malformation in Preterm Infants: A Case Report and Review of the Literature.

Congenital pulmonary airway malformations (CPAMs) represent a well-known cluster of rare lung malformations affecting 1 in 2500 live births. The natural history of many CPAMs is to increase their size in the second trimester, reach a plateau, and, in about 50% of cases, regress and to become barely detectable during the third trimester. Little is known about cases of affected neonates born prematurely: only six cases are described in the literature, recording different conduct and outcomes.