Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population

Mutations affecting recombination activation genes RAG1 and RAG2 are associated with variable phenotypes, depending on the residual recombinase activity. The aim of this study is to describe a variety of clinical phenotypes in RAG-deficient patients from the highly consanguineous Egyptian population. Thirty-one patients with RAG mutations (from 28 families) were included from 2013 to 2017. On the basis of clinical, immunological and genetic data, patients were subdivided into three groups; classical T^–B^– severe combined immunodeficiency (SCID), Omenn syndrome (OS) and atypical SCID. Nineteen patients presented with typical T^–B^–SCID; among these, five patients carried a homozygous RAG2 mutation G35V and five others carried two homozygous RAG2 mutations (T215I and R229Q) that were detected together. Four novel mutations were reported in the T^–B^–SCID group; three in RAG1 (A565P, N591Pfs*14 and K621E) and one in RAG2 (F29S). Seven patients presented with OS and a novel RAG2 mutation (C419W) was documented in one patient. The atypical SCID group comprised five patients. Two had normal B cell counts; one had a previously undescribed RAG2 mutation (V327D). The other three patients presented with autoimmune cytopaenias and features of combined immunodeficiency and were diagnosed at a relatively late age and with a substantial diagnostic delay; one patient had a novel RAG1 mutation (C335R). PID disorders are frequent among Egyptian children because of the high consanguinity. RAG mutations stand behind several variable phenotypes, including classical SCID, OS, atypical SCID with autoimmunity and T^–B⁺ CID.     

Novel insights into the SLC7A11-mediated ferroptosis signaling pathways in preeclampsia patients: identifying pannexin 1 and toll-like receptor 4 as innovative prospective diagnostic biomarkers

Journal of Assisted Reproduction and Genetics - Ferroptosis is associated with oxidative stress (OS) and is caused by iron-dependent lipid-peroxidative damage, but its role in PE is unclear. The...     

First-time anterior shoulder dislocations: should they be arthroscopically stabilised?

The glenohumeral joint is inherently unstable because the large humeral head articulates with the small shadow glenoid fossa. Traumatic anterior dislocation of the shoulder is a relatively common athletic injury, and the high frequency of recurrent instability in young athletes after shoulder dislocation is discouraging to both the patient and the treating physician. Management of primary traumatic shoulder dislocation remains controversial. Traditionally, treatment involves initial immobilisation for 4–6 weeks, followed by functional rehabilitation. However, in view of the high recurrence rates associated with this traditional approach, there has been an escalating interest in determining whether immediate surgical intervention can lower the rate of recurrent shoulder dislocation, improving the patient’s quality of life. This review article aims to provide an overview of the nature and pathogenesis of first-time primary anterior shoulder dislocations, the widely accepted management modalities, and the efficacy of primary surgical intervention in first-time primary anterior shoulder dislocations.     

Gorham’s disease of the mandible: radiological features

The most conspicuous element of Gorham’s disease is its radiographic features, wherein massive disappearance of the mandible is observed. We report a case of an adolescent boy with massive osteolysis of the mandible in whom the diagnosis of Gorham’s disease was made. A 14-year-old boy was referred to the Department of Oral and Maxillofacial Surgery, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, for the management of a massive mandibular deformity. He was diagnosed with a hemangioma-like lesion at 1 year of age. The disease had progressed for an unknown number of years. Plain X-rays and computed tomography images were examined for reconstructive surgery planning. Gorham’s disease is self-limiting, but has catastrophic results. The role of imaging is huge, particularly for reconstructive surgery planning.     

Saline contrast echocardiography for the detection of anomalous origin of pulmonary artery from aorta

Saline contrast echocardiography is a well‐established modality for the diagnosis of right‐to‐left shunt lesions. In this brief report, we demonstrate, for the first time, its usefulness in the diagnosis of anomalous origin of right pulmonary artery from aorta.