Graft-versus-leukaemia immunity is retained following treatment with post-transplant cyclophosphamide alone or combined with tocilizumab in humanised mice.

Objectives: Donor haematopoietic stem cell transplantation treats leukaemia by inducing graft-versus-leukaemia (GVL) immunity. However, this benefit is often mitigated by graft-versus-host disease (GVHD), which is reduced by post-transplant cyclophosphamide (PTCy) alone or combined with tocilizumab (TOC) in humanised mice. This study established a preclinical humanised mouse model of GVL and investigated whether PTCy alone or combined with TOC impacts GVL immunity.

Craniosynostosis in Patients With X-Linked Hypophosphatemia: A Review.

Craniosynostosis is a rare condition of skull development, manifesting during fetal and early infant development, and is usually congenital. Craniosynostosis secondary to metabolic disorders, such as X-linked hypophosphatemia (XLH), is less common and is typically diagnosed later than congenital craniosynostosis. XLH is a rare, progressive, and lifelong hereditary phosphate-wasting disorder characterized by loss of function of the phosphate-regulating endopeptidase homologue, X-linked gene, which is associated with premature fusion of cranial sutures due to abnormal phosphate metabolism (hypophosphatemia) and altered bone mineralization or elevated levels of fibroblast growth factor 23.

Keeping you on your toes: Smith-Lemli-Opitz Syndrome is an easily missed cause of developmental delays.

Smith-Lemli-Opitz syndrome (SLOS) is a relatively common genetic cause of developmental delay and may only present in conjunction with 2,3 toe syndactyly. This case series illustrates a milder phenotype of SLOS, where the predominant findings are neurocognitive in the presence of 2,3 toe syndactyly.

3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis.

3-Methylglutaconyl-CoA hydratase deficiency (MGA1) is a defect in leucine catabolism, which causes the accumulation of urinary 3-methylglutaconate, with or without 3-hydroxyisovalerate and 3-methylglutarate. It is an ultra-rare condition, with <30 cases published in the literature. It is unclear whether the clinical features seen in reported patients are caused by the biochemical abnormalities, or whether they simply represent an ascertainment bias in patients that come to clinical attention.

A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency.

Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder characterised by reduced or absent OTC enzyme activity, resulting in the accumulation of neurotoxic ammonia. Approximately 80%-90% of the causative variants are identified by Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA) of the gene. A 23-year-old male with biochemical evidence of OTCD was referred for molecular analysis.

Characterization of the Developing Lacunocanalicular Network During Fracture Repair.

Fracture repair is a normal physiological response to bone injury. During the process of bony callus formation, a lacunocanalicular network (LCN) is formed de novo that evolves with callus remodeling. Our aim was the longitudinal assessment of the development and evolution of the LCN during fracture repair.

FGF23, Hypophosphatemia, and Emerging Treatments.

FGF23 is an important hormonal regulator of phosphate homeostasis. Together with its co-receptor Klotho, it modulates phosphate reabsorption and both 1α-hydroxylation and 24-hydroxylation in the renal proximal tubules. The most common FGF23-mediated hypophosphatemia is X-linked hypophosphatemia (XLH), caused by mutations in the gene.

Erythema nodosum in an adolescent patient with cryopyrin-associated periodic syndrome.

Cryopyrin-associated periodic syndrome (CAPS) is a monogenetic auto-inflammatory disorder with systemic manifestations. Innate immune system aberrance is seen in both CAPS and erythema nodosum and this case may point to a previously unknown association. In pediatric patients with EN and systemic features, the possibility of underlying CAPS should be considered.

Vein of Galen aneurysm.

Background: AV malformation of the vein of Galen, also known as vein of Galen aneurysm, is an intracranial anomaly characterised by a midline, high flow lesion with a complex vascular architecture. It compromises less than 1% of all cerebral arteriovenous malformations seen in adults and children. Timely diagnosis of the malformation is of importance particularly during the perinatal period due to the large systemic shunting within the fetal brain potentially leading to cardiac failure, hydrops and perinatal death.

Sonography for the investigation of a child with a limp.

Hip pain is a common paediatric presentation and is potentially serious. While hip pain can be attributed to primary hip pathology, the hip area is also a common site for referred pain. This often poses a diagnostic challenge particularly in the young child who may not verbalise the point of pain and may not report an injury.