Roentgenological diagnosis of injuries of the tibiofibular syndesmosis]

Under study there were 23 patients without alterations in the area of tibiofibular syndesmosis, 53 patients with isolated injuries and 132 patients with associated injuries in the area of syndesmosis. Roentgenogrammetry (calculation of the tibiofibular index) and special filtration of the roentgenogram picture were performed. Roentgenogrammetric indices of ruptures of syndesmosis and peculiarities of bone injuries at the level of syndesmosis were established.     

Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours

Biallelic mismatch repair deficiency (bMMRD) in tumours is frequently associated with somatic mutations in the exonuclease domains of DNA polymerases POLE or POLD1, and results in a characteristic mutational profile. In this article, we describe the genetic basis of ultramutated high‐grade brain tumours in the context of bMMRD. We performed exome sequencing of two second‐cousin patients from a large consanguineous family of Indian origin with early onset of high‐grade glioblastoma and astrocytoma. We identified a germline homozygous nonsense variant, p.R802*, in the PMS2 gene. Additionally, by genome sequencing of these tumours, we found extremely high somatic mutation rates (237/Mb and 123/Mb), as well as somatic mutations in the proofreading domain of POLE polymerase (p.P436H and p.L424V), which replicates the leading DNA strand. Most interestingly, we found, in both cancers, that the vast majority of mutations were consistent with the signature of POLE exo^–, i.e. an abundance of C>A and C>T mutations, particularly in special contexts, on the leading strand. We showed that the fraction of mutations under positive selection among mutations in tumour suppressor genes is more than two‐fold lower in ultramutated tumours than in other glioblastomas. Genetic analyses enabled the diagnosis of the two consanguineous childhood brain tumours as being due to a combination of PMS2 germline and POLE somatic variants, and confirmed them as bMMRD/POLE exo^– disorders. Copyright © 2017 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.     

Solitary fibrous tumour of the cheek: An unusual presentation of a rare soft tissue tumour

This case report discusses the unusual presentation and ultrasound features of a solitary fibrous tumour of the face. Solitary fibrous tumour is an uncommon form of soft tissue tumour which, although seen predominantly within the lung pleura, can occur throughout the body in sites such as the peritoneum, mediastinum and head and neck. Ultrasound is an excellent imaging modality in the assessment of soft tissue masses in the head and neck. The ultrasound features demonstrated by this example of solitary fibrous tumour are reviewed. This report also highlights that ultrasound alone is ultimately limited in reaching a definitive diagnosis. The roles of other investigations such as ultrasound-guided biopsy and cross-sectional imaging are discussed.     

Beta thalassemia in Melanesia: association with malaria and characterization of a common variant (IVS-1 nt 5 G----C)

Data on the distribution of beta thalassemia among over 6,000 Melanesians reveals a major difference in the carrier rates between populations in the malarious coastal regions of New Guinea and those living in the historically malaria-free Highlands. The island of Maewo in Vanuatu has a particularly high incidence of beta + thalassemia associated with a single restriction enzyme haplotype. Direct cloning into a plasmid vector and sequence analysis demonstrate that the mutation is a G to C transversion at position 5 of intron 1 of the beta- globin gene. Oligonucleotide probe surveys indicate that this variant accounted for all cases of beta thalassemia studied from Maewo. It is also common in coastal Papua New Guinea where haplotype and oligonucleotide probe data suggest that the molecular basis of beta thalassmia is more heterogeneous.     

Delayed presentation of vernix caseosa peritonitis

INTRODUCTION

Vernix caseosa peritonitis (VCP) is a rare and poorly recognised condition resulting from a sustained foreign body reaction to the vernix caseosa of the baby. This case-based review aims to highlight its importance for any medical team managing patients with peritonitis who have undergone a recent Caesarean section.

CASE REPORT

A 31-year-old woman presented 5 weeks after a Caesarean section with symptoms and signs of peritonitis.

CONCLUSIONS

Laparotomy and peritoneal lavage is the mainstay of treatment for VCP. Knowledge of the condition may stop inadvertent resection of normal intra-abdominal organs. Greater awareness of VCP is required to ensure earlier recognition as patients can recover well following timely operative intervention.     

Scattering Analysis of AlGaN/AlN/GaN Heterostructures with Fe-Doped GaN Buffer

The results of the study of the influence of Fe segregation into the unintentionally doped GaN channel layer in AlGaN/AlN/GaN heterostructures with Fe-doped GaN buffer layer on the electrical properties of two-dimensional electron gas are presented. A set of several samples was grown by metal-organic vapor-phase epitaxy and characterized by the van der Pauw method. The dependence of concentration and mobility of the two-dimensional electron gas on the channel layer thickness was analyzed theoretically by self-consistent solving of 1D Poisson and Schrödinger equations and scattering rate calculations within the momentum relaxation time approximation. It was found that both concentration and mobility decreases were responsible for the increase in the sheet resistance in the structures with a thinner channel layer, with a drop in mobility being not only due to ionized impurity scattering, but also due to a combined effect of weakening of screening, lower carrier energy and change in form-factors on scattering by interface roughness, dislocations and polar optical phonons.