Cell Free Expression of hif1α and p21 in Maternal Peripheral Blood as a Marker for Preeclampsia and Fetal Growth Restriction

Preeclampsia, a severe unpredictable complication of pregnancy, occurs in 6% of pregnancies, usually in the second or third trimester. The specific etiology of preeclampsia remains unclear, although the pathophysiological hallmark of this condition appears to be an inadequate blood supply to the placenta. As a result of the impaired placental blood flow, intrauterine growth restriction (IUGR) and consequential fetal oxidative stress may occur. Consistent with this view, pregnancies complicated by preeclampsia and IUGR are characterized by up-regulation of key transcriptional regulators of the hypoxic response including, hif1α and as well as p53 and its target genes. Recently, the presence of circulating cell-free fetal RNA has been documented in maternal plasma. We speculated that pregnancies complicated by preeclampsia and IUGR, will be associated with an abnormal expression of p53 and/or hif1α related genes in the maternal plasma. Maternal plasma from 113 singleton pregnancies (72 normal and 41 complicated pregnancies) and 19 twins (9 normal and 10 complicated pregnancies) were collected and cell free RNA was extracted. The expression of 18 genes was measured by one step real-time RT-PCR and was analyzed for prevalence of positive/negative expression levels. Results indicate that, among the genes examined, cell free plasma expressions of p21 and hif1α were more prevalent in pregnancies complicated by hypoxia and/or IUGR (p<0.001). To conclude, we present in this manuscript data to support the association between two possible surrogate markers of hypoxia and common complications of pregnancy. More work is needed in order to implement these findings in clinical practice

Next-Generation Sequencing of Apoptotic DNA Breakpoints Reveals Association with Actively Transcribed Genes and Gene Translocations

DNA fragmentation is a well-recognized hallmark of apoptosis. However, the precise DNA sequences cleaved during apoptosis triggered by distinct mechanisms remain unclear. We used next-generation sequencing of DNA fragments generated in Actinomycin D-treated human HL-60 leukemic cells to generate a high-throughput, global map of apoptotic DNA breakpoints. These data highlighted that DNA breaks are non-random and show a significant association with active genes and open chromatin regions. We noted that transcription factor binding sites were also enriched within a fraction of the apoptotic breakpoints. Interestingly, extensive apoptotic cleavage was noted within genes that are frequently translocated in human cancers. We speculate that the non-random fragmentation of DNA during apoptosis may contribute to gene translocations and the development of human cancers

A case of generalized scleromyxedema that responded to IVIG monotherapy

A 49-year-old African-American female presented with a mildly pruritic rash with an initial biopsy showing changes suggestive of interstitial granuloma annulare versus papular mucinosis. Despite treatment, her lesions continued to disseminate, and a second biopsy finally confirmed the clinical diagnosis of scleromyxedema. Further work-up revealed elevated serum kappa chains, and a subsequent bone marrow biopsy demonstrated a silent 10-15% plasma cell myeloma. She was started on IVIG 2 g/kg spread contiguously over five days once a month for six months. She received three cycles so far, which has resulted in dramatic improvement of her cutaneous lesions and associated pruritus. Scleromyxedema is an idiopathic cutaneous mucinosis that affects middle-aged adults. Patients present with a symmetrical distribution of 2-3 mm waxy or lichenoid papules coalescing to form thick plaques with sclerodermoid changes. These patients also have concurrent IgG monoclonal gammopathy and elevated lambda light chains, but the role of this gammopathy remains a debate. While these patients do have evidence of plasma cell dyscrasia, serum levels of these proteins do not correlate with disease progression or severity. In actuality, only 10% of these patients progress to develop frank multiple myeloma. Patients with scleromyxedema can develop internal manifestations, involving a number of systems such as neurologic, rheumatologic, muscular, cardiac, respiratory, and renal organs. Treatment for this condition is disappointing, because multiple agents have been tried with limited success. Main treatments include agents such as melphalan, systemic steroids, intravenous immunoglobulins (IVIGs), plasmapheresis, and various other chemotherapies

Actinic lichen nitidus

We present the case of a 29-year-old black female with an initial clinical and histopathologic diagnosis of actinic lichen nitidus. Three years later, she presented with scattered hyperpigmented macules with oval pink/viol-aceous plaques bilaterally on her forearms and on her neck, clinically consistent with actinic lichen planus. She was treated with topical steroids at each visit, with subsequent resolution of her lesions. In this report, we discuss the spectrum of actinic lichenoid dermatoses and of disease that presents even in the same patient. Case Repor

A cross sectional study on the analysis of periodontal parameters in adult patients with clear aligners orthodontics treatment versus three other types of brackets

Objective: To analyse the gingival parameters in the orthodontic treatment using clear aligners versus the three other types of brackets, i.e., conventional metal, conventional ceramic, and metal self‑ligating. Materials and methods: The current study comprised 80 individuals who came in for regular appointments and were receiving orthodontic treatment. They were then separated into four groups, each with 20 patients: Group 1 received traditional brackets (CB); Group 2 received traditional ceramic brackets (CCB); Group 3 received self-ligating (SL) brackets; and Group 4 received clear aligner (CA) treatment. The inclusion criteria were any patient under the age of 18 with a Class II or Class III skeletal link who was receiving orthodontic treatment for at least 6 months with fixed orthodontic appliances (FOA) on their teeth. Smokers, pregnant women, diabetics, and those using medications that impact gingival health or who have cardiovascular illnesses were all excluded from the study. Patients who had used antiseptic solutions or mouthwash in the previous six months, had any periodontal procedures in the previous six months, or had fixed bridges and crowns or extensive restorations adjacent to the gingival borders were also excluded

Congenital Ichthyosiform Erythroderma Superimposed with Chronic Dermatophytosis: A Report of Three Siblings

Congenital ichthyosiform erythroderma is an autosomal recessive ichthyosis characterized by severe scaling and erythroderma. We report a family of three siblings who were all born with a collodion membrane and presented with diffuse scaling and pruritus. All three children subsequently developed chronic cutaneous dermatophyte infections requiring oral antifungals. One child developed superinfection with methicillin-resistant Staphylococcus aureus requiring antibiotics