Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review

Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article, we study clinical, microscopic, and ultrastructural findings of 20 patients with TTD with the aim to add further insights regarding to this rare condition. Additionally, analyses of our results are compared with those extracted from the literature in order to enhance its comprehensibility. Materials and Methods: Twenty cases of TTD were included: 7 from Mexico and 14 from Spain. Clinical, microscopic, scanning electron microscopy (SEM) studies and X-ray microanalysis (XrMa) were carried out in all of them. Genetic studies were performed in all seven Mexican cases. Patients with xeroderma pigmentosum and xeroderma pigmentosum/TTD-complex were excluded. Results: Cuticular changes and longitudinal crests of the hair shaft were demonstrated. These crests were irregular, disorganized, following the hair longest axis. Hair shaft sulfur deficiency was disposed discontinuously and intermittently rather than uniformly. This severe decrease of sulfur contents was located close to the trichoschisis areas. Only five patients did not show related disturbances. Micro-dolichocephaly was observed in five cases and represented the most frequent facial dysmorphism found. It is also remarkable that all patients with urologic malformations also combined diverse neurologic disorders. Moreover, three Mexican sisters demonstrated the coexistence of scarce pubic vellus hair, developmental delay, onychodystrophy, and maxillar/mandibullar hypoplasia. Conclusions: TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, blindness, lamellar ichthyosis and gonadal malformations. Herein, a multisystem study should be performed mandatorily in patients diagnosed with TTD.

Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review

Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article, we study clinical, microscopic, and ultrastructural findings of 20 patients with TTD with the aim to add further insights regarding to this rare condition. Additionally, analyses of our results are compared with those extracted from the literature in order to enhance its comprehensibility. Materials and Methods: Twenty cases of TTD were included: 7 from Mexico and 14 from Spain. Clinical, microscopic, scanning electron microscopy (SEM) studies and X-ray microanalysis (XrMa) were carried out in all of them. Genetic studies were performed in all seven Mexican cases. Patients with xeroderma pigmentosum and xeroderma pigmentosum/TTD-complex were excluded. Results: Cuticular changes and longitudinal crests of the hair shaft were demonstrated. These crests were irregular, disorganized, following the hair longest axis. Hair shaft sulfur deficiency was disposed discontinuously and intermittently rather than uniformly. This severe decrease of sulfur contents was located close to the trichoschisis areas. Only five patients did not show related disturbances. Micro-dolichocephaly was observed in five cases and represented the most frequent facial dysmorphism found. It is also remarkable that all patients with urologic malformations also combined diverse neurologic disorders. Moreover, three Mexican sisters demonstrated the coexistence of scarce pubic vellus hair, developmental delay, onychodystrophy, and maxillar/mandibullar hypoplasia. Conclusions: TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, blindness, lamellar ichthyosis and gonadal malformations. Herein, a multisystem study should be performed mandatorily in patients diagnosed with TTD.

Taxation of unhealthy consumption of food and drinks: An updated literature review

By means of a literature review this paper aims at shedding more light on the potentialities of unhealthy food/drink taxation in changing eating patterns and life styles and hence combating the obesity epidemic. One remarkable point that emerges when assessing the set of selected papers is the existence of a wide diversity of objectives, methodologies, settings and datasets, policies implemented and results achieved by all these studies, which undoubtedly adds complexity to any attempt to draw a general conclusion on fast food taxation. Most of the examined studies predict a rather modest fiscal impact on unhealthy food and drinks consumption and/or nutrition intake and consequently a poor result on weight loss and obesity, by the interplay of several factors among them the effects of cross-price elasticities.

Taxation of unhealthy consumption of food and drinks: An updated literature review

By means of a literature review this paper aims at shedding more light on the potentialities of unhealthy food/drink taxation in changing eating patterns and life styles and hence combating the obesity epidemic. One remarkable point that emerges when assessing the set of selected papers is the existence of a wide diversity of objectives, methodologies, settings and datasets, policies implemented and results achieved by all these studies, which undoubtedly adds complexity to any attempt to draw a general conclusion on fast food taxation. Most of the examined studies predict a rather modest fiscal impact on unhealthy food and drinks consumption and/or nutrition intake and consequently a poor result on weight loss and obesity, by the interplay of several factors among them the effects of cross-price elasticities.

Built environment and elderly population health: a comprehensive literature review

Global population aging over recent years has been linked to poorer health outcomes and higher healthcare expenditure. Policies focusing on healthy aging are currently being developed but a complete understanding of health determinants is needed to guide these efforts. The built environment and other external factors have been added to the International Classification of Functioning as important determinants of health and disability. Although the relationship between the built environment and health has been widely examined in working age adults, research focusing on elderly people is relatively recent. In this review, we provide a comprehensive synthesis of the evidence on the built environment and health in the elderly.

Laparoscopy in uterine cervical cancer. Current state and literature review

Cervical cancer remains the most frequent gynecological tumor in Brazil and other developing countries. Minimally invasive techniques, especially laparoscopy, have been increasingly employed in such tumors. This article aims to describe the main applications of laparoscopy in the treatment and staging of cervical cancer. In the early stages, it is possible to provide a fertility-preserving surgery in the form of radical trachelectomy and, in a study protocol, the function-preserving surgery, avoiding parametrectomy and the associated morbidity. A fully laparoscopic radical hysterectomy is fairly standard in the literature and has the tendency to become the standard of care in early cases, for patients who want to bear no more children. In advanced stages, minimally invasive surgery can offer ovarian transposition, with intent to prevent actinic castration, without upsetting the time for the start of radiotherapy and chemotherapy. Staging laparoscopic surgery, including pelvic and para-aortic lymphadenectomy, has been the subject of studies, since it has the potential to modify the extension of radiotherapy depending on the extent of lymph node spread.

Environmental and physiological factors that affect the efficacy of herbicides that inhibit the enzyme protoporphyrinogen oxidase: a literature review

Herbicides that inhibit the enzyme protoporphyrinogen oxidase (PROTOX) are usually effective to control dicotyledonous weeds and their agronomic efficacy is affected by environmental and physiological factors. The objective of this review is to summarize the knowledge of those factors available in the scientific literature in the last decade. Environmental factors that influence PROTOX inhibitors include temperature, irradiance and relative humidity. The most relevant physiological factors are the activity of enzymes that can detoxify herbicides and also of enzymes that mitigate the effects of oxidative stress in plants. The study also suggests some possible management strategies that could optimize the activity of PROTOX-inhibiting herbicides.

Development and applications of the SWAN rating scale for assessment of attention deficit hyperactivity disorder: a literature review

This study reviewed the use of the Strengths and Weaknesses of Attention-Deficit/Hyperactivity-symptoms and Normal-behaviors (SWAN) rating scale in diagnostic and evolutive approaches to attention deficit hyperactivity disorder (ADHD) and in correlational studies of the disorder. A review of articles published in indexed journals from electronic databases was conducted and 61 articles on the SWAN scale were analyzed. From these, 27 were selected to a) examine use of SWAN in research on attention disorders and b) verify evidence of its usefulness in the areas of genetics, neuropsychology, diagnostics, psychiatric comorbidities, neuroimaging, pharmacotherapy, and to examine its statistical reliability and validity in studies of diverse populations. This review of articles indicated a growing use of the SWAN scale for diagnostic purposes, for therapy, and in research on areas other than ADHD, especially when compared with other reliable scales. Use of the scale in ADHD diagnosis requires further statistical testing to define its psychometric properties.

What is the current state of cloud service research and its promise for the future? A systematic literature review

The information technology (IT) industry has recently witnessed the proliferation of cloud services, which have allowed IT service providers to deliver on-demand resources to customers over the Internet. This frees both service providers and consumers from traditional IT-related burdens such as capital and operating expenses and allows them to respond rapidly to new opportunities in the market. Due to the popularity and growth of cloud services, numerous researchers have conducted studies on various aspects of cloud services, both positive and negative. However, none of those studies have connected all relevant information to provide a holistic picture of the current state of cloud service research. This study aims to investigate that current situation and propose the most promising future directions. In order to determine achieve these goals, a systematic literature review was conducted on studies with a primary focus on cloud services. Based on carefully crafted inclusion criteria, 52 articles from highly credible online sources were selected for the review. To define the main focus of the review and facilitate the analysis of literature, a conceptual framework with five main factors was proposed. The selected articles were organized under the factors of the proposed framework and then synthesized using a narrative technique. The results of this systematic review indicate that the impacts of cloud services on enterprises were the factor best covered by contemporary research. Researchers were able to present valuable findings about how cloud services impact various aspects of enterprises such as governance, performance, and security. By contrast, the role of service provider sub-contractors in the cloud service market remains largely uninvestigated, as do cloud-based enterprise software and cloud-based office systems for consumers. Moreover, the results also show that researchers should pay more attention to the integration of cloud services into legacy IT systems to facilitate the adoption of cloud services by enterprise users. After the literature synthesis, the present study proposed several promising directions for cloud service research by outlining research questions for the underexplored areas of cloud services, in order to facilitate the development of cloud service markets in the future.

A Literature Review on the Benefits of Ethnic and Minority Entrepreneurship

Ethnic/Minority entrepreneur is a business owner who does not represent the majority population of a country. Ethnic/Minority entrepreneurship can bring benefits to individual, society, region, economy, and globe too. So, understanding the importance of ethnic/minority entrepreneurship will really be useful to all the stakeholders. The unique culture and value system of ethnic minorities are the most wanted characteristics for any successful entrepreneur in general. Many industrial nations like U.S, U.K., Germany, etc. have utilised the ethnic minorities to build their economy. The future of the minority businesses looks bright as the world economy is booming, availability of experienced and already successful minority entrepreneurs as role models, and institutional support services. In this paper, literature relating to the benefits of ethnic and minority entrepreneurship is reviewed to understand its magnitude of benefits.

Prevalence, risk factors, and problems associated with dating violence: A literature review

The physical, psychological and sexual violence among the couples of adolescents and young adults that are not married neither cohabiting (well-known generally as “dating violence”), has been object of a vast number of investigations in the last two decades that show a high prevalence inside the adolescent and juvenile population. The objective of this work was to carry out an analysis of the literature in connection with the prevalence, risk factors and difficulties associated with this partner violence type. This analysis allowed to elaborate an outline of the factors that could favor the acts of violence, including the previous experiences of victimization inside and outside the family, the acceptance of the violence toward the couple, and the relationship with pairs that have exercised this form of violence.

Investigation and literature review of unilateral hearing loss

Literature and research were gathered and analyzed to determine the impact UHL has on a child’s education, speech and language development. The effects of early intervention and amplification were also analyzed.

A literature review of three common balance tests: Electronystagmography, Rotary Chair Testing, and Computerized Dynamic Posturography

This paper discusses the rationale, clinical applications, advantages and disadvantages of three common balance function tests: Electronystagmography (ENG), Rotational Chair Testing (RCT), and Computerized Dynamic Posturography (CDP).