Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease

Chondrodysplasia punctata (CDP) is an etiologically heterogeneous disorder characterized by the radiographic finding of stippled epiphyses (punctate calcifications). It is often accompanied by a characteristic facial appearance, known as the Binder phenotype, which is attributed to hypoplasia of the nasal cartilages; abnormal distal phalanges (brachytelephalangy) are a common component manifestation as well. We report eight patients with a Binder phenotype with or without CDP who all shared a known or suspected maternal deficiency of vitamin K. We suspect that this phenotype is probably under recognized, and we hope to increase awareness about the maternal risk factors, especially hyperemesis gravidarum, which lead to nutritional deficiency. © 2013 Wiley Periodicals, Inc.     

Precise ablation of dental hard tissues with ultra-short pulsed lasers. Preliminary exploratory investigation on adequate laser parameters

This study aimed to evaluate the possibility of introducing ultra-short pulsed lasers (USPL) in restorative dentistry by maintaining the well-known benefits of lasers for caries removal, but also overcoming disadvantages, such as thermal damage of irradiated substrate. USPL ablation of dental hard tissues was investigated in two phases. Phase 1—different wavelengths (355, 532, 1,045, and 1,064 nm), pulse durations (picoseconds and femtoseconds) and irradiation parameters (scanning speed, output power, and pulse repetition rate) were assessed for enamel and dentin. Ablation rate was determined, and the temperature increase measured in real time. Phase 2—the most favorable laser parameters were evaluated to correlate temperature increase to ablation rate and ablation efficiency. The influence of cooling methods (air, air–water spray) on ablation process was further analyzed. All parameters tested provided precise and selective tissue ablation. For all lasers, faster scanning speeds resulted in better interaction and reduced temperature increase. The most adequate results were observed for the 1064-nm ps-laser and the 1045-nm fs-laser. Forced cooling caused moderate changes in temperature increase, but reduced ablation, being considered unnecessary during irradiation with USPL. For dentin, the correlation between temperature increase and ablation efficiency was satisfactory for both pulse durations, while for enamel, the best correlation was observed for fs-laser, independently of the power used. USPL may be suitable for cavity preparation in dentin and enamel, since effective ablation and low temperature increase were observed. If adequate laser parameters are selected, this technique seems to be promising for promoting the laser-assisted, minimally invasive approach.     

Psychometric properties of self-administered Lequesne Algofunctional Indexes in patients with hip and knee osteoarthritis: an evaluation using classical test theory and Rasch analysis

The aim of this study is to perform a psychometric analysis of the Lequesne Algofunctional Indexes (LAI) for the severity of osteoarthritis (OA) of the hip (LAI-hip) and knee (LAI-knee), using classical test theory (CTT) and Rasch analysis. Questionnaires were completed by 1,214 patients with symptomatic OA of the knee (n = 697) and hip (n = 517). Internal consistency was evaluated using Cronbach’s alpha and an item-to-total correlation. Dimensionality was investigated with a factor analysis. Raw scores underwent Rasch analysis. Cronbach’s alpha was 0.84 for LAI-hip and 0.82 for LAI-knee. LAI-hip resulted in unidimensionality according to the factor analysis, while LAI-knee supported both a single and a two-factor solution (items 1–6b and 7–10, respectively). At Rasch analysis, the rating categories of item ‘maximum distance walked’ did not comply with the criteria for category functioning in either LAI-hip or LAI-knee. A test of the residual correlation showed item dependency in both LAI-hip and LAI-knee. Misfitting items were present in both the scales. According to both CTT and Rasch analysis, in our two samples representing a wide spectrum of both hip and knee OA severity the LAI-hip and LAI-knee showed a series of drawbacks, which rendered both questionnaires inadequate in relation to their metric properties and severely limit their ability to perform, as a composite measure, in line with the main aims of their developers.     

Developmental Dysplasia of the Hip: Linkage Mapping and Whole Exome Sequencing Identify a Shared Variant in CX3CR1 in All Affected Members of a Large Multigeneration Family

Developmental dysplasia of the hip (DDH) is a debilitating condition characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage resulting in arthritis. DDH affects 1 in 1000 newborns in the United States; there are well‐defined “pockets” of high prevalence in Japan, and in Italy and other Mediterranean countries. Although reasonably accurate for detecting gross forms of hip dysplasia, existing techniques fail to find milder forms of dysplasia. Undetected hip dysplasia is the leading cause of osteoarthritis of the hip in young individuals, causing over 40% of cases in this age group. A sensitive and specific test for DDH has remained a desirable yet elusive goal in orthopedics for a long time. A 72‐member, four‐generation affected family has been recruited, and DNA from its members retrieved. Genomewide linkage analysis revealed a 2.61‐Mb candidate region (38.7–41.31 Mb from the p term of chromosome 3) co‐inherited by all affected members with a maximum logarithm (base 10) of odds (LOD) score of 3.31. Whole exome sequencing and analysis of this candidate region in four severely affected family members revealed one shared variant, rs3732378, that causes a threonine (polar) to methionine (non‐polar) alteration at position 280 in the transmembrane domain of CX3CR1. This mutation is predicted to have a deleterious effect on its encoded protein, which functions as a receptor for the ligand fractalkine. By Sanger sequencing this variant was found to be present in the DNA of all affected individuals and obligate heterozygotes. CX3CR1 mediates cellular adhesive and migratory functions and is known to be expressed in mesenchymal stem cells destined to become chondrocytes. A genetic risk factor that might be among the etiologic factors for the family in this study has been identified, along with other possible aggravating mutations shared by four severely affected family members. These findings might illuminate the molecular pathways affecting chondrocyte maturation and bone formation. © 2013 American Society for Bone and Mineral Research.     

Can impairment-focused therapy change the everyday conversations of people with aphasia? A review of the literature and future directions

Background: The ultimate goal in any programme of aphasia rehabilitation is that behaviours targeted in therapy will generalise to everyday use for people with aphasia (PWA). The pervasiveness of conversation in everyday life has undoubtedly contributed to the recent interest in aphasiology regarding how we facilitate, and capture evidence of, change in conversation following therapy. Given the rich nature of conversation data, various analytical approaches have been utilised within impairment-focused therapy studies; however, much of this work has been carried out in isolation from other methodologies such as conversation analysis (CA)—a field which has historically concerned itself with conversation data. The result is a growing literature base which is dispersed in nature. For clinicians who are faced with the daily challenge of therapeutic management for a diverse population of PWA the literature on generalising therapy gains to everyday conversation may be too unwieldy to be of benefit to current clinical practice.

Aims: This paper aims to synthesise and critically review key papers from impairment-focused studies which have investigated the impact of therapy on the conversations of PWA. For the purposes of this review, conversation is defined as a dialogue between the person with aphasia and a conversation partner.

Main Contribution: First, the motivation to investigate conversation within aphasia assessment is discussed, with consideration of how conversation differs from, but ultimately complements, other forms of language assessment. Following this, five impairment therapy studies will provide a platform for discussion of methodological issues and analytical approaches relating to conversation data. Finally, consideration is given to how researchers and clinicians may build on current literature to develop the use of conversation as an outcome measure in aphasia intervention. Where appropriate, insights are drawn from interaction-focused therapy studies regarding the collection and analysis of conversation data.

Conclusions: There is emerging evidence that impairment-focused therapy can impact on the conversations of PWA. While these early findings are promising, investigations have been limited to naming therapies and the methods of data collection used have implications for ecological validity. Incorporating particular elements of interaction-focused approaches may help to inform data collection, investigations of therapy outcome, and issues of candidacy for specific treatments. Furthermore, combining therapeutic and analytical approaches is likely to be more closely akin to the clinical reality of aphasia intervention, where clinicians are likely to use all resources at their disposal in the rehabilitation of a speaker with aphasia.     

No influence of brain-derived neurotrophic factor (BDNF) polymorphisms on treatment response in a naturalistic sample of patients with major depression

The role of the brain-derived neurotrophic factor (BDNF) in the pathophysiology of major depressive disorder (MDD) remains to be elucidated. Recent post hoc analyses indicated a potential association of three polymorphisms in the BDNF gene with worse treatment outcome in patients with the subtype of melancholic depression. We aimed at replicating these findings in a German naturalistic multicenter follow-up. Three polymorphisms in the BDNF gene (rs7103411, rs6265 (Val66Met) and rs7124442) were genotyped in 324 patients with MDD and 470 healthy controls. We applied univariate tests and logistic regression models stratifying for depression subtype and gender. The three polymorphisms were not associated with MDD as diagnosis. Further, no associations were found in univariate tests. With logistic regression, we only found a tendency towards an association of the rs6265 (Val66Met) polymorphism with overall response to treatment (response rates: GG (val/val) < GA (val/met) < AA (met/met); p = 0.0129) and some gender differences for the rs6265 (Val66Met) and rs7103411 polymorphisms. Treatment outcome stratified for subtypes of depression did not differ significantly between the investigated polymorphisms or using haplotype analyses. However, results showed a tendency towards significance. At this stage, we cannot support an influence of these three polymorphisms. Further studies in larger patient samples to increase sample sizes of subgroups are warranted.