Genomic and transcriptomic analyses of thyroid cancers identify DICER1 somatic mutations in adult follicular-patterned RAS-like tumors.

Background: Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer (TC). Several genomic and transcriptomic studies explored the molecular landscape of follicular cell-derived TCs, and V600E, mutations, and gene fusions are well-established drivers. mutations were described in specific sets of TC patients but represent a rare event in adult TC patients.

The genomics of desmoplastic small round cell tumor reveals the deregulation of genes related to DNA damage response, epithelial-mesenchymal transition, and immune response.

Background: Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive, and poorly investigated simple sarcoma with a low frequency of genetic deregulation other than an Ewing sarcoma RNA binding protein 1 (EWSR1)-Wilm's tumor suppressor (WT1) translocation. We used whole-exome sequencing to interrogate six consecutive pre-treated DSRCTs whose gene expression was previously investigated.

Methods: DNA libraries were prepared from formalin-fixed, paraffin-embedded archival tissue specimens following the Agilent SureSelectXT2 target enrichment protocol and sequenced on Illumina NextSeq 500.

Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.

Background: Androgen insensitivity syndrome (AIS), a disorder of sexual development in 46, XY individuals, is caused by loss-of-function mutations in the androgen receptor (AR) gene. A variety of tumors have been reported in association with AIS, but no cases with colorectal cancer (CRC) have been described.

Case Presentation: Here, we present a male patient with AIS who developed multiple early-onset CRCs and his pedigree.

Hepatitis G virus infection in hemodialysis patients.

The increased risk of hemodialysis patients for infections sustained by hepatitis viruses is likely to extend to a newly discovered parenterally transmitted virus, HGBV-C/HGV, able to cause acute and chronic hepatitis. The aim of this study was to assess the prevalence and clinical relevance of this infection in Italian hemodialysis patients. Nineteen of 100 patients (19%) on maintenance hemodialysis were viremic for HGBV-C/HGV, and all of them were infected with a HGV-like genotype.

Opening doors: improving access to hospice and specialist palliative care services by members of the black and minority ethnic communities. Commentary on palliative care.

To put Council's project on improving access to hospice and specialist palliative care services by members of the black and minority ethnic communities into context, palliative care will be defined, and the scope of palliative care services currently available in the UK outlined. Palliative care is the active total care of patients whose disease no longer responds to curative treatment. It is provided through a network of home-care, day-care, hospital support and hospital or hospice based in-patient services.

cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene.

The Drosophila dishevelled gene (dsh) encodes a secreted glycoprotein, which regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. We have isolated and characterized cDNA clones from two different human dsh-homologous genes, designated as DVL-1 and DVL-3. DVL-1 and DVL-3 putative protein products show 64% amino acid identity.

Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome.

DiGeorge syndrome (DGS) is a developmental defect of some of the neural crest derivatives. Most DGS patients show haploinsufficiency due to interstitial deletions of the proximal long arm of chromosome 22. Deletions of 22q11 have also been reported with patients with the velocardio-facial syndrome and familial conotruncal heart defects.

Progressive vitiligo, mental retardation, facial dysmorphism, and urethral duplication without chromosomal breakage or immunodeficiency.

A boy, born to first cousin parents of Algerian origin, first presented at the age of 9 years with growth failure, mental retardation, and dysmorphic facies. Progressive vitiligo developed from the age of 12 and distal duplication of the urethra was later recognised. The basis of this syndrome remains to be determined; autoimmune disease, chromosomal breakage syndromes, and other neurocutaneous syndromes have been excluded.

Toxic epidermal necrolysis (Lyell syndrome). Incidence and drug etiology in France, 1981-1985.

We looked retrospectively for all cases of toxic epidermal necrolysis that occurred in France over a 5-year period to appreciate the incidence of this disorder and its drug etiology. Of the 399 cases identified, we obtained detailed information on 344 cases and validated 253 cases. From response rates (66% to 98%), we estimated the actual total number of cases to be 333, and the incidence of toxic epidermal necrolysis in France to 1.

The culprit drugs in 87 cases of toxic epidermal necrolysis (Lyell's syndrome).

Between 1972 and 1985, 87 patients with toxic epidermal necrolysis (TEN) were admitted to the dermatological intensive care unit at Hôpital Henri Mondor, Créteil, France. The culpable drug was determined by standardized criteria. Only three patients had received no drugs before the onset of TEN.

Toxic epidermal necrolysis. Clinical findings and prognosis factors in 87 patients.

Eighty-seven patients with toxic epidermal necrolysis were observed at Hôpital Henri Mondor in Créteil, France, over the last 12 years. The mean percentage of body surface area involved was 39%. Erosive mucous membrane lesions, identical to those of Stevens-Johnson syndrome, were present in all but three cases.

Functional effects of epidermal cell culture supernatants (ECCS) on human B-cell activation.

Epidermal cells (EC) were cultured without stimulation and the effect of these EC culture supernatants (ECCS) on human in vitro B-cell response was determined. Supernatants obtained between Days 5 and 7 were able to replace monocytes in the antibody response to the particulate antigen trinitrophenyl-polyacrylamide (TNP-PAA). These results were obtained when highly monocyte-depleted cultures (less than 0.

[MacCune-Albright syndrome. Apropos of a case].

The MacCune-Albright's syndrome as described by these authors in 1936 and 1937 is extremely rare if one considers the complete form consisting in the triad: café-au-lait spots, fibro-osseous dysplasia, endocrine disturbances. We report an additional case in a 5 year old girl with an precocious puberty. Within a 10 year follow up occurred a polyostotic fibrous dysplasia with pathologic bone fractures in cystic areas, and a right exophthalmos induced by a cyst of the large wing of the sphenoid bone.