Congenital Adrenal Hyperplasia with Non-functional Mutations in Both Alleles in a Clinically Unaffected Infant.

Background: Results in neonatal screening programs aiming at detection of congenital adrenal hyperplasia (CAH) can only report elevated levels of 17-hydroxy-progesterone (17-OHP), without being able to differentiate presence or absence of salt loss.

Aim: To predict presence or absence of salt loss in newborn infants with CAH.

Methods: The first specimen of suspected CAH in samples sent from People's Democratic Republic of Laos (Lao PDR) was investigated for known mutations in CAH associated with salt loss.

New model for gastroenteropancreatic large-cell neuroendocrine carcinoma: establishment of two clinically relevant cell lines.

Recently, a novel WHO-classification has been introduced that divided gastroenteropancreatic neuroendocrine neoplasms (GEP-NEN) according to their proliferation index into G1- or G2-neuroendocrine tumors (NET) and poorly differentiated small-cell or large-cell G3-neuroendocrine carcinomas (NEC). Our knowledge on primary NECs of the GEP-system is limited due to the rarity of these tumors and chemotherapeutic concepts of highly aggressive NEC do not provide convincing results. The aim of this study was to establish a reliable cell line model for NEC that could be helpful in identifying novel druggable molecular targets.

Impact of the 3D microenvironment on phenotype, gene expression, and EGFR inhibition of colorectal cancer cell lines.

Three-dimensional (3D) tumor cell cultures grown in laminin-rich-extracellular matrix (lrECM) are considered to reflect human tumors more realistic as compared to cells grown as monolayer on plastic. Here, we systematically investigated the impact of ECM on phenotype, gene expression, EGFR signaling pathway, and on EGFR inhibition in commonly used colorectal cancer (CRC) cell lines. LrECM on-top (3D) culture assays were performed with the CRC cell lines SW-480, HT-29, DLD-1, LOVO, CACO-2, COLO-205 and COLO-206F.

KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal cancer cell lines.

Purpose: Targeted therapies using the anti-EGFR antibodies panitumumab (Pmab) or cetuximab (Cmab) are currently restricted to patients with metastatic colorectal adenocarcinoma whose tumours do not show a mutation in KRAS. However, recent retrospective studies indicated that patients with tumours mutated in codon 13 of KRAS may benefit from treatment with Cmab in contrast to patients with tumours mutated in KRAS codon 12.

Methods: To study the functional impact of the subtype of KRAS mutations on the efficiency of EGFR-targeted therapies, we correlated the KRAS mutation status of 15 colorectal carcinoma cell lines with the in vitro sensitivity of these cells to Cmab/Pmab.

Severe generalised rhabdomyolysis with fatal outcome associated with isotretinoin.

Isotretinoin is considered to be a safe and effective therapy in otherwise therapy-resistant acne. Elevated serum creatine phosphokinase values with or without muscle-related symptoms in isotretinoin-treated patients have been reported and interpreted as benign phenomena, lethal cases have not been described yet. We present the case of a 20-year-old male who died from severe generalised rhabdomyolysis associated with isotretinoin treatment.

Discovery of TP53 splice variants in two novel papillary urothelial cancer cell lines.

Background: Using a novel cell culture technique, we established two new cell lines, BC44 and BC61, from papillary urothelial carcinoma and analyzed them for genetic changes typical of this tumor type.

Methods And Results: Karyotyping revealed aneuploid karyotypes with loss of chromosome 9 and rearranged chromosome 5p. Molecular analysis showed CDKN2A deletions but wild-type PIK3CA.

[Autoerotic fatalities in Greater Dusseldorf].

Autoerotic fatalities in the Greater Dusseldorf area correspond to the relevant medicolegal literature. Our results included exclusively young to middle-aged, usually single men who were found dead in their city apartments. Clothing and devices used showed a great variety.

MtDNA typing of single-sperm cells isolated by micromanipulation.

Some sexual assault crimes constitute a problem for the legal institutions confronted with the DNA analysis of such cases. Often, sperm cells are found in the victim's vaginal tract during medical examination but their successful genotyping is compromised by the huge excess of the victim's epithelial cells as well as by the degradation of genomic DNA present in sperm cells as a consequence of female immune response. Mitochondrial DNA present in the mid-piece of sperm cells might be useful in some specific cases in order to differentiate the donors of a semen sample.

[Identification of an unknown body by means of osteosynthesis material].

The present case describes the identification of an unknown corpse recovered from water by means of two osteosynthesis plates with serial numbers. This method of identification is compared with the pros and cons of other possibilities of identification using medical findings. Although in Western Europe osteosynthesis material is normally removed some months after the operation, autoptic exposure of a suspicious bone may occasionally allow valid, fast and convenient identification of the body, especially if osteosynthesis material with different serial numbers was used.

Molecular characterization of commonly used cell lines for bone tumor research: a trans-European EuroBoNet effort.

Usage of cancer cell lines has repeatedly generated conflicting results provoked by differences among subclones or contamination with mycoplasm or other immortal mammalian cells. To overcome these limitations, we decided within the EuroBoNeT consortium to characterize a common set of cell lines including osteosarcomas (OS), Ewing sarcomas (ES), and chondrosarcomas (CS). DNA fingerprinting was used to guarantee the identity of all of the cell lines and to distinguish subclones of osteosarcoma cell line HOS.

Allele frequencies for twelve STR loci in two Bulgarian populations: Bulgarians and Karakachani.

The allele frequencies of 12 STRs (D2S1338, D3S1358, D5S818, D8S1179, D16S539, D18S51, D19S433, D21S11, FGA, TH01, TPOX, VWA) from two Bulgarian population samples are presented: ethnic Bulgarians and Karakachani. The descent of Karakachani is not known. They are regarded as descendants of an older Balkan population, or that they may have nearer genetic relationships to the Aromuns.

Hodgkin disease-like posttransplantation lymphoproliferative disorder of donor origin in a renal allograft recipient.

Posttransplantation lymphoproliferative disorder (PTLD) develops in 1.6% of renal allograft recipients. More than 90% are of recipient origin.

Genetic studies in south Balkan populations.

Within a study of the genetics of Balkan populations, four DNA-STR systems and 19 classical markers were examined in seven samples: Romanians (two groups), Albanians, Greeks and Aromuns (three groups). The results for the DNA-STR systems have been compared with data from the literature. The results show four clear separated groups: sub-Saharan black populations, North-African, Japanese and European populations.