Primary cutaneous phalangeal neuroendocrine/squamous cell carcinoma with mixed axillary metastasis.

Cutaneous neuroendocrine tumours are rare and aggressive tumours associated with advanced age and immunosuppression. They are typically characterised by a high rate of local recurrence and nodal disease. The presence of a mixed squamous cell component is rare. These tumours are uncommonly found on the hand. We present a case and histological images of a 78-year-old woman with a primary CK20 negative TTF-1 positive cutaneous neuroendocrine tumour with squamous dedifferentiation arising from the fifth digit with axillary metastasis showing a mixed phenotype. Initial biopsy of the lesion was positive for chromogranin, synaptophysin and TTF-1, but negative for CK20, Melan-A and S100. After CT of the thorax abdomen and pelvis and octreotide single positron emission CT demonstrated a 15 mm axillary metastasis and no evidence of distal disease, our patient underwent an amputation of the affected digit and an axillary lymph node dissection. She is currently awaiting adjuvant chemoradiotherapy. Only two cases are reported in the literature to have mixed squamous/neuroendocrine features. We present the first case which is CK20 negative and TTF-1 positive.

Reclassification as NIFTP: a Retrospective Review in a Single Institution with an Emphasis on Workload.

The aim of this study was to determine the number of cases of papillary thyroid carcinoma (PTC) which could be reclassified as non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) in our institute over a 10-year period, document their clinical status and assess the number of slides that had to be reviewed per case to exclude NIFTP. The histopathology reports for thyroid resections for all papillary carcinoma over a 10-year period (2007-2016) were reviewed. Five hundred forty-five histopathology reports were reviewed, and 71 cases were identified as potential cases of NIFTP. Forty-nine (69%) cases had been referred from external departments and the slides were not available for review. Of the remaining 22 (31% of 71) cases, 5 were reclassified as NIFTP. The 17 cases that were not reclassified as NIFTP required review of 114 of 356 slides (median 5.5 slides per case) was required to exclude NIFTP. For the 5 NIFTP cases, 58 slides were reviewed (median 12 slides per case). We found that review of the histology reports alone was adequate for exclusion in most cases, e.g. classic PTC or EVPTC cases with documented lymphovascular invasion or capsular invasion. As a single exclusion criterion is required for exclusion from reclassification as NIFTP, this can be achieved efficiently. Two of the five patients received radioactive iodine [RAI] as per standard treatment at time of diagnosis, on the basis of tumour size. None have recurrent or metastatic disease with mean follow-up of 5.8 years.

Paratesticular myositis ossificans of the spermatic cord.

A 56-year-old man presented with a painless scrotal lump, enlarging over the preceding 1 month. The lump was roughly 1 cm in size, and located in his left hemiscrotum and separate from the testis. An ultrasound revealed an echogenic focus with dystrophic tissue calcification. Subsequent surgical excision and histopathological analysis revealed it to be late-stage myositis ossificans, a benign, extraosseous formation of the bone or cartilage. We report of only the second described case of myositis ossificans of the spermatic cord in the literature to date.

Oxygen challenge magnetic resonance imaging in healthy human volunteers.

Oxygen challenge imaging involves transient hyperoxia applied during deoxyhaemoglobin sensitive (T2*-weighted) magnetic resonance imaging and has the potential to detect changes in brain oxygen extraction. In order to develop optimal practical protocols for oxygen challenge imaging, we investigated the influence of oxygen concentration, cerebral blood flow change, pattern of oxygen administration and field strength on T2*-weighted signal. Eight healthy volunteers underwent multi-parametric magnetic resonance imaging including oxygen challenge imaging and arterial spin labelling using two oxygen concentrations (target FiO2 of 100 and 60%) administered consecutively (two-stage challenge) at both 1.5T and 3T. There was a greater signal increase in grey matter compared to white matter during oxygen challenge (p < 0.002 at 3T, P < 0.0001 at 1.5T) and at FiO2 = 100% compared to FiO2 = 60% in grey matter at both field strengths (p < 0.02) and in white matter at 3T only (p = 0.0314). Differences in the magnitude of signal change between 1.5T and 3T did not reach statistical significance. Reduction of T2*-weighted signal to below baseline, after hyperoxia withdrawal, confounded interpretation of two-stage oxygen challenge imaging. Reductions in cerebral blood flow did not obscure the T2*-weighted signal increases. In conclusion, the optimal protocol for further study should utilise target FiO2 = 100% during a single oxygen challenge. Imaging at both 1.5T and 3T is clinically feasible.

Respiratory challenge MRI: Practical aspects.

Respiratory challenge MRI is the modification of arterial oxygen (PaO2) and/or carbon dioxide (PaCO2) concentration to induce a change in cerebral function or metabolism which is then measured by MRI. Alterations in arterial gas concentrations can lead to profound changes in cerebral haemodynamics which can be studied using a variety of MRI sequences. Whilst such experiments may provide a wealth of information, conducting them can be complex and challenging. In this paper we review the rationale for respiratory challenge MRI including the effects of oxygen and carbon dioxide on the cerebral circulation. We also discuss the planning, equipment, monitoring and techniques that have been used to undertake these experiments. We finally propose some recommendations in this evolving area for conducting these experiments to enhance data quality and comparison between techniques.

Cardiac transplant in a family pedigree of hypertrophic cardiomyopathy secondary to a mutation in the AMP gene.

The phenotype of this unique condition comprises left ventricular hypertrophy (LVH), accessory pathways, atrial arrhythmia and premature failure of the atrioventricular node. At age 11, his ECG showed marked voltage criteria for LVH but his echocardiography was negative. He declined further screening but was reassessed at 21 years of age. By this time he had developed significant LVH. He had an implantable cardioventer defibrillator (ICD) in 2001. He developed atrial flutter and fibrillation which was initially treated with medical therapy and then radiofrequency ablation.Unfortunately, his condition deteriorated. He was New York Heart Association (NYHA) class 3-4 for most of 2011 and spent the latter part of the year and most of 2012 as an in-patient. An attempt to upgrade his ICD to a cardiac resynchronisation therapy-defibrillator was unsuccessful.In March 2012 he was placed on the transplant waiting list. He received an organ in June. He is now NHYA class 1 and has returned to work part-time.

Transcription of the singed-weak mutation of Drosophila melanogaster: elimination of P-element sequences by RNA splicing and repression of singed transcription in a P genetic background.

The dysgenesis-induced, hypermutable singed-weak allele has two incomplete P-elements inserted in a head-to-head configuration in the 5' non-coding exon of the singed bristle locus of Drosophila melanogaster. In the presence of P transposase, each element excises to produce single element derivatives, singed-extreme and singed-(+), that have either an extreme bristle or wild-type phenotype, respectively. In an M background, pseudo-wild-type transcripts are made that initiate at the singed promoter, read through the insertions, and are spliced to remove the P-element sequences and part of the 5' exon. The abundance of the pseudo-wild-type RNAs in pupae correlates with the bristle phenotype, being highest in singed-(+) and lowest in singed-extreme. Other RNAs are made that retain the insertions, or are truncated with respect to the downstream coding singed exons and have their 3' ends within the insertions. The mutants are female-fertile in an M background but sterile in a P background where little singed RNA can be detected. Transgenes containing either a complete P-element or an incomplete P-element known as KP impair the fertility of females carrying the singed-weak mutation, suggesting that the proteins encoded by these two widely distributed P-elements may be responsible for inhibiting transcription of singed-weak in a P background.