Witkop tooth and nail syndrome: a case report

Witkop tooth and nail syndrome is an autosomal dominant ectodermal dysplasia characterized by hypodontia and nail dysplasia. Mutations in MSX-1 have been identified as being involved in the syndrome. Mandibular incisors, secondary molars and maxillary canines are the most frequently missing teeth. Tooth shape may vary, and conical and narrow crowns are common. Nail dysplasia affects finger- and toenails, and is often more severe in childhood. Nails may be spoon-shaped, rigid, slow-growing and easily broken. The clinical and radiographic features of a mother and child presenting with this rare condition are described.     

A light microscopic study of fibrosis involving muscle in oral submucous fibrosis.

Oral submucous fibrosis (OSF) is a common pre-malignant condition of the mouth in arecanut chewers in Indian subcontinent. It is characterized by restriction in opening of the mouth, tongue protrusion, and cheek flexibility. Reports of muscle changes in OSF, using light microscopy are few. Incisional biopsy sections of thirty OSF patients were stained with Masson's Trichrome stain, to study the fibrosis involving the muscle. Wide spectrum of changes were observed where fibrosis was being evident sub-epithelially, not extending in to the muscle to cases where only a few remnants of muscle fibers were seen and the missing muscle bundle area being replaced by fibrous tissue. The probable mechanism by which these changes occur is discussed.     

Fish oil increases cholesterol storage in white adipose tissue with concomitant decreases in inflammation, hepatic steatosis, and atherosclerosis in mice

Although fish oil has hypolipidemic and antiatherosclerotic properties, the potential for white adipose tissue (WAT) to mediate these effects has not been studied. LDL-receptor deficient (LDLR-/-) mice were fed high fat, olive oil-containing diets supplemented with additional olive oil or with fish oil for 12 wk. Fish oil feeding significantly reduced plasma lipid levels. In contrast, lipid storage in WAT was increased in fish oil-fed mice as evidenced by increased total fat (P < 0.05) and perigonadal WAT mass (P < 0.05), increased cholesterol storage (P < 0.001), and adipocyte hypertrophy. Despite increased adipose tissue mass, WAT-specific inflammation and insulin sensitivity were improved (P < 0.05), concomitant with reduced macrophage infiltration. Furthermore, fish oil increased WAT and plasma levels of adiponectin. In addition, fish oil feeding decreased the formation of proinflammatory F2- isoprostanes, markers of oxidative stress (P < 0.05). The increased WAT lipid storage in fish oil-fed mice was associated with reduced lipid accumulation in liver (P < 0.05) and decreased atherosclerotic lesion area (P < 0.05). Taken together, these data highlight the specific role of WAT in regulating dietary fish oil-mediated improvement in systemic lipid homeostasis and atherosclerosis.     

Cefepime versus ceftazidime for treatment of pneumonia

Consecutive patients with pneumonia, treated with cefepime (n = 66) or ceftazidime (n = 132), were evaluated in a retrospective, observational study. There was no significant difference between the two treatment groups with respect to age, underlying diseases, acute physical and chronic health evaluation score, intensive care unit admission, presence of sepsis, community or hospital acquisition, causative organism, duration of therapy, death, cure or improvement in infection, adverse events, superinfections, presence of vancomycin-resistant enterococcus (VRE) and resistance to therapy. Post-therapy hospitalization (days) and vancomycin co-administration were significantly lower, and time to vancomycin initiation significantly higher, in the cefepime compared with the ceftazidime group. The results suggest a trend towards less resistance on therapy, less VRE, reduced vancomycin use and shorter post-therapy hospitalization in patients treated with cefepime compared with ceftazidime. The clinical outcomes for hospitalized patients treated for serious pneumonia were similar between the two groups.     

Assessment of Mutational Load in Biopsy Tissue Provides Additional Information About Genomic Instability to Histological Classifications of Barrett's Esophagus

Purpose

Progression of Barrett's esophagus (BE) to esophageal adenocarcinoma (EAC) is associated with accumulated genomic instability. Current risk stratification of BE for EAC relies on histological classification and grade of dysplasia. However, histology alone cannot assess the risk of patients with inconsistent or non-dysplastic BE histology. We, therefore, examined the presence and extent of genomic instability in advanced and less advanced BE histology using mutational load (ML).

Methods

ML summarized the presence and clonality of loss of heterozygosity (LOH) mutations and the emergence of new alleles, manifested as microsatellite instability (MSI) mutations, in ten genomic loci around tumor suppressor genes associated with EAC. The ML of 877 microdissected targets from BE biopsies was correlated to their histology. Histological targets were categorized into three levels: no ML, low ML, and high ML.

Results

Increasing ML correlated with increasingly severe histology. By contrast, proportions of targets that lacked mutations decreased with increasingly severe histology. A portion of targets with non-dysplastic and low-grade histology shared a similar ML as those with higher risk and EAC disease. The addition of MSI characterization to ML helped to differentiate the ML between advanced and less advanced histology.

Conclusions

Given that EAC is associated with accumulated genomic instability, high ML in less severe histology may identify BE disease at greater risk of progression to EAC. ML may help to better manage BE in early histological stages and when histology alone provides insufficient information.     

Assessing Certified Nurse‐Midwives' Attitudes Towards Planned Home Birth

Introduction: Certified nurse‐midwives (CNMs) and certified midwives (CMs) are prepared for care in many settings and could increase access to planned home birth for American women. However, only 4% of American College of Nurse‐Midwives members offer the home as a birth setting. CNMs'/CMs' attitudes towards birth place and the factors underlying their choice of practice site are largely unstudied. This article describes the development, content validation, and psychometric testing of an instrument to assess the attitudes of CNMs towards planned home birth. Methods : A scale was designed to measure Provider Attitudes to Planned Home Birth (PAPHB). Item generation was informed by literature review and a systematic expert panel appraisal. Reliability and validity of the scale were evaluated with a sample of 1893 CNMs. Results : Expert review indicated high relevancy and clarity of the scale items (scale‐content validity index, 0.93). Construct validity was assessed using the Cattell scree test and factor analysis. The resultant 1‐factor, attitude scale had strong internal consistency (Cronbach α = .94). The average PAPHB scale score among CNMs was 78.77 (range, 20–100; standard deviation, 15.9), with significant differences in attitude scores according to clinical home birth experience, educational background, and external barriers reported by CNMs. Discussion : The PAPHB scale is a reliable and valid instrument for the measurement of attitudes towards home birth. It can be used to assess the impact of education, environment, and clinical experiences on maternity practice choices.