BCL11B-related disease: a single phenotypic entity?

Craniosynostosis (CRS), the premature fusion of sutures between the skull bones, is characterised by a long "tail" of rare genetic diagnoses. This means that pathogenic variants in many genes are responsible for a minority of cases, and identifying these disease genes and delineating the associated phenotype is extremely important for patient diagnosis and for genetic counselling of families. One such gene is BCL11B.

OTX-2 Expression as a Diagnostic Marker for Choroid Plexus Tumors.

Choroid plexus tumors are neuroepithelium-derived tumors arising in the ventricles of the central nervous system. They are commonly seen in childhood and correspond to low rates in all central nervous system tumors. Due to their rareness and similar histomorphologic features to other tumors, their diagnosis might be challenging.

Long-term outcomes after surgical correction of anterior plagiocephaly secondary to isolated frontosphenoidal synostosis: a systematic review and two illustrative cases.

Purpose: Anterior plagiocephaly ( AP), secondary to isolated frontosphenoidal synostosis (IFS), represents one of the rarest forms of craniosynostosis documented in medical literature. Therefore, there is a lack of comprehensive understanding regarding the long-term (> 2 years) postoperative outcomes of this minor suture synostosis.

Methods: This study presents the long-term outcomes of two patients previously treated for IFS, detailing their clinical, imaging, and postoperative characteristics.

The vaginal microbiome composition during pregnancy in a region compromising different ethnic origins.

Background: The vaginal microbiota plays a significant role in pregnancy outcomes and newborn health. Indeed, the composition and diversity of the vaginal microbiota can vary among different ethnic groups. Our study aimed to investigate the composition of the vaginal microbiome throughout the three trimesters of pregnancy and to identify any potential variations or patterns in the Turkish population compromising mixed ethnicities.

Pediatric Diffuse Leptomeningeal Glioneuronal Tumors: Diagnosis, Follow-up, and Treatment Options.

Aim: To highlight the diagnosis, follow-up, and treatment options for diffuse leptomeningeal glioneuronal tumor (DLGNT) by examining pediatric patients diagnosed with DLGNT by molecular pathological evaluation and next generation sequencing at our center.

Material And Methods: In this retrospective analysis, patients diagnosed with DLGNT between January 2017 and December 2022 are outlined according to their demographic data, radiological data, pathology results, treatments, and follow-up data.

Results: Four patients were diagnosed with DLGNT.