Acne fulminans: explosive systemic form of acne

Acne fulminans (AF) is a rare severe form of acne vulgaris associated with systemic symptoms. It primarily affects male adolescents. Although the aetiology of AF remains unknown, many theories have been advanced to explain it. There have been reported associations with increased androgens, autoimmune complex disease and genetic pre‐disposition. The disease is destructive, with the acute onset of painful, ulcerative nodules on the face, chest and back. The associated systemic manifestations such as fever, weight loss and musculoskeletal pain are usually present at the onset. The patients are febrile, with leucocytosis and an increased erythrocyte sedimentation rate. They may require several weeks of hospitalization. The treatment of AF has been challenging; the response to traditional acne therapies is poor. The recommended treatment is aggressive and consists of a combination of oral steroids and isotretinoin. To avoid the relapses, duration of such treatment should not be less than 3–5 months. Although the prognosis for patients treated appropriately is good, these acute inflammatory nodules often heal with residual scarring.     

Antenatal counselling for prospective parents whose fetus has a neurological anomaly: part 1, experiences and recommendations for service design

Prospective parents whose fetus is diagnosed with a neurological anomaly go through a complex range of emotions. They describe their discussions of antenatal counselling from health care professionals as focusing too much on the nature of the anomaly involving unintelligible medical terminology, when what they really want is a picture of the best- and worst-case scenarios. Whilst information on the level of risk for their fetus is important, it is not the parents’ primary concern. When statistics for risk are given, they may not be as well understood as the health care professionals think. This review discusses the published evidence on antenatal counselling and recommendations for explaining risk to parents of fetuses with neurological anomalies. From this data we make recommendations for the organization of antenatal counselling services.     

Improved 32P-postlabelling assay for the quantification of the major platinum-DNA adducts

For the improvement of chemotherapy with platinum (Pt)-containing drugs a sensitive assay to detect the induced Pt-DNA adducts is needed. Therefore, the 32P-postlabelling assay, described by Blommaert and Saris (Nucleic Acids Res., 1995, 23, 1300-1306), to detect the major adducts Pt-GG and Pt-AG has substantially been improved and compared with ELISA and AAS. For the quantification of the adducts, TpT was added as an internal standard immediately after isolation of the Pt- adducts from digested DNA samples. It was found that 32P-labelling of both GpG and ApG, the dinucleotides obtained after deplatination of the adducts, was equally efficient as that of TpT. To isolate the Pt- adducts on basis of a positive charge, the pH of DNA digests was adjusted to approximately 3 prior to separation by strong cation- exchange chromatography. For the subsequent deplatination a volume of only 12 microl of 0.2 M NaCN was used, which did not interfere with the following labelling step. The quantification of the 32P-labelled dinucleotides was performed by phosphorimaging of spots after separation on TLC as well as by 32P-counting of fractions collected after separation by HPLC. The method was used to determine adduct levels in in vitro cisplatin-treated DNA and in DNA isolated from cisplatin-treated cultured cells, tumor xenografts from cisplatin- treated mice, and from white blood cells and (tumor) tissues from cisplatin-treated patients. The results show a significant correlation with the adduct levels as determined with atomic absorption spectroscopy (high levels) or with specific antibodies (low levels). This assay appears to be useful for the determination of low levels of Pt-adducts in small DNA samples as present in clinical specimens such as blood and tumor tissue, but also in buccal mucosal cells and fine needle aspirates.      

Insertion Sites in Engrafted Cells Cluster Within a Limited Repertoire of Genomic Areas After Gammaretroviral Vector Gene Therapy

Vector-associated side effects in clinical gene therapy have provided insights into the molecular mechanisms of hematopoietic regulation in vivo. Surprisingly, many retrovirus insertion sites (RIS) present in engrafted cells have been found to cluster nonrandomly in close association with specific genes. Our data demonstrate that these genes directly influence the in vivo fate of hematopoietic cell clones. Analysis of insertions thus far has been limited to individual clinical studies. Here, we studied >7,000 insertions retrieved from various studies. More than 40% of all insertions found in engrafted gene-modified cells were clustered in the same genomic areas covering only 0.36% of the genome. Gene classification analyses displayed significant overrepresentation of genes associated with hematopoietic functions and relevance for cell growth and survival in vivo. The similarity of insertion distributions indicates that vector insertions in repopulating cells cluster in predictable patterns. Thus, insertion analyses of preclinical in vitro and murine in vivo studies as well as vector insertion repertoires in clinical trials yielded concerted results and mark a small number of interesting genomic loci and genes that warrants further investigation of the biological consequences of vector insertions.     

Torus palatinus and torus mandibular is: A review of the literature

The torus has been mentioned in the literature for about 180 years. However, little has been revealed about it until the last two decades when great advances were made in the field of genetics. Its occurrence in various ethnic groups ranges from 9 to 66 per cent.
Even between similar ethnic groups living in different environments, different figures have been reported. It has been statistically proven that differences do occur between various ethnic groups and the sexes. In current thinking, the occurrence of tori is considered to be an interplay of genetic and environmental factors. The quasi-continuous genetic or threshold model seems to hold the answers to their formation. This theory proposes that the environmental factors responsible must first reach a threshold level before the genetic factors can express themselves in the individual. Hence, both genetic and environmental factors determine liability, making the system multifactorial.     

Coccidia species in endemic and native New Zealand passerines

New Zealand native passerines are hosts to a large variety of gastrointestinal parasites, including coccidia. Coccidian parasites are generally host-specific, obligate intracellular protozoan parasites. In passerine birds, members of the genus Isospora are most common. Under natural conditions, these parasites seldom pose a threat, but stressors such as quarantine for translocation, overcrowding, or habitat changes may cause an infection outbreak that can severely affect wild populations. Although coccidia are important pathogens and have caused mortalities in kiwi (Apteryx spp.) and hihi (Notiomystis cincta), their prevalence, epidemiology, life cycles, and taxonomic relationships are still widely unknown in native New Zealand songbirds. Over a period of 3 years (2007–2009), we examined 330 fecal samples of six native passerine species: tui (Prosthemadera novaeseelandiae), North Island saddleback (Philesturnus carunculatus rufusater), North Island robin (Petroica longipes), silvereye (Zosterops lateralis), and fantail (Rhipidura fuliginosa). The overall prevalence by flotation of coccidian infection in the New Zealand bird species examined was 21–38 %, 21 % in North Island robin, 38 % in tui, and 25 % in saddleback. Similar to prior studies in other countries, preliminary sequencing results suggest that coccidia in passerines in New Zealand are members of the family Eimeriidae, unlike the phenotypically similar genus Cystisospora of mammals. Using molecular methods, we identified at least five new genetically distinct Isospora species in the examined birds (three in tui and one each in saddlebacks and North Island robins).