Case report of a primary subcutaneous melanoma:a surprising entity for a subcutaneous nodule

INTRODUCTION: A melanoma can originate at the subcutis without any visible skin lesion. CASE PRESENTATION: A 73-year old patient came to the outpatient clinic with a subcutaneous nodule on the right thigh without any visible lesion of the skin. It turned out to be a primary subcutaneous melanoma that could be classified as a primary dermal melanoma (PDM). DISCUSSION: A PDM is a very rare subtype of melanoma that stands out for its excellent prognosis in comparison to cutaneous melanomas. No valid reliable staging system or treatment guideline exists for this entity, Breslow depth might overestimate the clinical aggressiveness possibly leading to overtreatment. CONCLUSION: It is of great importance for the clinician to be familiar with a primary dermal melanoma. It deserves an appropriate place in the current AJCC system and a treatment guideline for this unique melanoma subtype with relativity excellent prognosis would be beneficial

Surgical treatment of anorectal melanoma:a systematic review and meta-analysis

BACKGROUND: Anorectal melanoma is a rare neoplasm with a poor prognosis. The surgical approaches for anorectal melanoma can be categorized into local excision (procedures without lymph node removal and preservation of the rectum) and extensive resection (procedures with rectum and pararectal lymph node removal). The aim of this systematic review and meta-analysis was to compare the survival of patients who underwent extensive resection with that of patients who underwent local excision, stratifying patients according to tumour stage. METHODS: A literature review was performed according to PRISMA guidelines by searching MEDLINE/PubMed for manuscripts published until March 2021. Studies comparing survival outcomes in patients with anorectal melanoma who underwent local excision versus extensive resection were screened for eligibility. Meta-analysis was performed for overall survival after the different surgical approaches, stratified by tumour stage. RESULTS: There were 347 studiesidentified of which 34 were included for meta-analysis with a total of 1858 patients. There was no significant difference in overall survival between the surgical approaches in patients per stage (stage I odds ratio 1.30 (95 per cent c.i. 0.62 to 2.72, P = 0.49); stage II odds ratio 1.61 (95 per cent c.i. 0.62 to 4.18, P = 0.33); stage I–III odds ratio 1.19 (95 per cent c.i. 0.83 to 1.70, P = 0.35). Subgroup analyses were conducted for the time intervals (<2000, 2001–2010 and 2011–2021) and for continent of study origin. Subgroup analysis for time interval and continent of origin also showed no statistically significant differences in overall survival. CONCLUSION: No significant survival benefit exists for patients with anorectal melanoma treated with local excision or extensive resection, independent of tumour stage

Screening for germline DND1 mutations in testicular cancer patients

Although several observations suggest that a strong genetic predisposition to developing testicular germ cell tumors (TGCT) exists, no associated, highly penetrant germline mutations have been identified so far. In the 129/Sv mouse strain, a germline mutation in the DND1 gene has been shown to strongly increase the TGCT risk. We screened 272 men with TGCT (89% sporadic cases, 11% familial) for germline mutations in the human homologue of DND1. A single nucleotide substitution c.657C > G (p.Asp219Glu) was observed in a non-familial case of testicular embryonal carcinoma. The variant was also present in the patient’s asymptomatic father and two brothers, but not observed in 210 control chromosomes. The wild type DND1 allele was not lost in the patient’s tumor. In silico analysis of the variant predicts it to be non-pathogenic. We conclude that germline DND1 mutations are unlikely to contribute significantly to human testicular germ cell tumor susceptibility. The role of human DND1 in normal physiology and disease, however, is still virtually unknown and it therefore warrants further research

The fate of the homoctenids (Tentaculitoidea) during the Frasnian-Famennian mass extinction (Late Devonian)

The homoctenids (Tentaculitoidea) are small, conical-shelled marine animals which are amongst the most abundant and widespread of all Late Devonian fossils. They were a principal casualty of the Frasnian-Famennian (F-F, Late Devonian) mass extinction, and thus provide an insight into the extinction dynamics. Despite their abundance during the Late Devonian, they have been largely neglected by extinction studies. A number of Frasnian-Famennian boundary sections have been studied, in Poland, Germany, France, and the United States. These sections have yielded homoctenids, which allow precise recognition of the timing of the mass extinction. It is clear that the homoctenids almost disappear from the fossil record during the latest Frasnian “Upper Kellwasser Event”. The coincident extinction of this pelagic group, and the widespread development of intense marine anoxia within the water column, provides a causal link between anoxia and the F-F extinction. Most notable is the sudden demise of a group, which had been present in rock-forming densities, during this anoxic event. One new species, belonging to Homoctenus is described, but is not formally named here

Free flux flow resistivity in strongly overdoped high-T_c cuprate; purely viscous motion of the vortices in semiclassical d-wave superconductor

We report the free flux flow (FFF) resistivity associated with a purely viscous motion of the vortices in moderately clean d-wave superconductor Bi:2201 in the strongly overdoped regime (T_c=16K) for a wide range of the magnetic field in the vortex state. The FFF resistivity is obtained by measuring the microwave surface impedance at different microwave frequencies. It is found that the FFF resistivity is remarkably different from that of conventional s-wave superconductors. At low fields (H<0.2H_c2) the FFF resistivity increases linearly with H with a coefficient which is far larger than that found in conventional s-wave superconductors. At higher fields, the FFF resistivity increases in proportion to \sqrt H up to H_c2. Based on these results, the energy dissipation mechanism associated with the viscous vortex motion in "semiclassical" d-wave superconductors with gap nodes is discussed. Two possible scenarios are put forth for these field dependence; the enhancement of the quasiparticle relaxation rate and the reduction of the number of the quasiparticles participating the energy dissipation in d-wave vortex state.Comment: 9 pages 7 figures, to appear in Phys. Rev.

Multi-stage genome-wide association study identifies new susceptibility locus for testicular germ cell tumour on chromosome 3q25

Recent genome-wide association studies (GWAS) and subsequent meta-analyses have identified over 25 SNPs at 18 loci, together accounting for >15% of the genetic susceptibility to testicular germ cell tumour (TGCT). To identify further common SNPs associated with TGCT, here we report a three-stage experiment, involving 4098 cases and 18 972 controls. Stage 1 comprised previously published GWAS analysis of 307 291 SNPs in 986 cases and 4946 controls. In Stage 2, we used previously published customised Illumina iSelect genotyping array (iCOGs) data across 694 SNPs in 1064 cases and 10 082 controls. Here, we report new genotyping of eight SNPs showing some evidence of association in combined analysis of Stage 1 and Stage 2 in an additional 2048 cases of TGCT and 3944 controls (Stage 3). Through fixed-effects meta-analysis across three stages, we identified a novel locus at 3q25.31 (rs1510272) demonstrating association with TGCT [per-allele odds ratio (OR) = 1.16, 95% confidence interval (CI) = 1.06-1.27; P = 1.2 × 10-9]

Hospital care in the first 10 years of life of children with congenital anomalies in six European countries: data from the EUROlinkCAT cohort linkage study.

OBJECTIVE: To quantify the hospital care for children born with a major congenital anomaly up to 10 years of age compared with children without a congenital anomaly. DESIGN, SETTING AND PATIENTS: 79 591 children with congenital anomalies and 2 021 772 children without congenital anomalies born 1995-2014 in six European countries in seven regions covered by congenital anomaly registries were linked to inpatient electronic health records up to their 10th birthday. MAIN OUTCOME MEASURES: Number of days in hospital and number of surgeries. RESULTS: During the first year of life among the seven regions, a median of 2.4% (IQR: 2.3, 3.2) of children with a congenital anomaly accounted for 18% (14, 24) of days in hospital and 63% (62, 76) of surgeries. Over the first 10 years of life, the percentages were 17% (15, 20) of days in hospital and 20% (19, 22) of surgeries. Children with congenital anomalies spent 8.8 (7.5, 9.9) times longer in hospital during their first year of life than children without anomalies (18 days compared with 2 days) and 5 (4.1-6.1) times longer aged, 5-9 (0.5 vs 0.1 days). In the first year of life, children with gastrointestinal anomalies spent 40 times longer and those with severe heart anomalies 20 times longer in hospital reducing to over 5 times longer when aged 5-9. CONCLUSIONS: Children with a congenital anomaly consume a significant proportion of hospital care resources. Priority should be given to public health primary prevention measures to reduce the risk of congenital anomalies

Oncological outcome of malignant colonic obstruction in the Dutch Stent-In 2 trial

Cellular mechanisms in basic and clinical gastroenterology and hepatolog