Challenges in Disease and Health Research Vol. 8

Early onset Pomp disease is a rare disorder often diagnosed late. Hypotonia, muscle weakens and cardio respiratory dysfunction are its hallmark. Blood assay of the GAA enzyme is a sensitive and specific marker of the disease. Early intervention with enzyme replacement therapy (ERT) improves morbidity and long-term survival, however therapy is both costly and a lifelong requirement. Gene therapy which is on the horizon appears promising.

Introduction: In Latin America the introduction of GMO (Genetically Modified Organisms) involves a risk of harm to human health, to the environment and a violation of human rights in exposed populations.

Objective: To investigate risk conditions of pesticide exposure in a population devoted to subsistence farming and surrounded by GMO crops, through the analysis of the fulfillment of State obligations to guarantee basic human rights.

Methods: A survey was conducted among local farmers in San Juan, in the Canindeyú Department (Py) in January, 2016 concerning farming practices. The compliance with state obligations was performed by analyzing the National Constitution and the Law of Phytosanitary Control.

Results: 43 Settlers were interviewed, out of which, a hundred percent (100%) are dedicated to farming, of which 53,5% (23/43) are dedicated to subsistence farming and 46,5% (20/43) are dedicated to income and subsistence. Their median level of education is 4,9 years. The population is surrounded by monocultures that are close to a 100% of the families, climate conditions are not taken into account, nor are they informed, also they were not trained in agrochemical handling and knowledge. An irregular handling of the proper preservation of recipients was described, also a lack of suitable spray equipment, washing of clothes, and child safety inside their home during massive spraying.

Conclusion: There is a risk of permanent exposure to pesticides in a context of a repeated violation of human rights of that population.

The human gut microbiota consists of trillions of microorganisms including 150-200 prevalent and approximately 1,000 less common bacterial species, harbouring over 100- fold more genes than those present in the human genome [1]. Recent renewed interest in the structure and function of gastrointestinal tract (GIT), which is the most heavily colonized organ of human body, has illuminated its functions essential to health maintenance. Inadequate gut colonization and dysbiosis, especially in extremely low birth weight (ELBW) infants and oncology patients undergoing chemotherapy, children with under GIT operation and type 2 diabetes patients, may lead to an increased risk of mucosal damage and inflammation which are important mechanisms to develop bacterial translocation that can result in systemic infection including septicemia. Elderly people are especially prone to infection, as many physiological and immune responses as well as organ functions decline with age.

Probiotics are live microorganisms which, when administered in sufficient doses, confer a health benefit on the host. In this review, we discuss the role played by GIT microbiota and probiotics in human health and disease based on our study in conjunction with the current knowledge.

Objectives: We conducted a survey of extended spectrum ?-lactamase (ESBL) among infectious Escherichia coli and Klebsiella pneumoniae clinical isolates in the Bone Marrow Transplant Centre of Tunisia during a period of 10 years (from 2002 to 2011).

Methods: Bacterial identification was carried on the basis of biochemical characteristics and API identification systems. Antibiotic susceptibility was tested by disc diffusion method on Muller-Hinton agar.

Results: During the study period, 34.5% of 142 K. pneumoniae strains and 11.46% of 218 E. coli strains were ESBL producing. An increasing trend was observed for ESBL production in the selected bacteria.

Conclusion: Screening for ESBL poduction among infectious K. pneumoniae and E. coli strains is paramount to guide the use of antimicrobial agents for the treatment of these pathogens in the hematopoietic stem cell transplant recipients population.

In the United States, hypertension affects over 90% of all patients with cardiovascular disease (CVD), and it is a major risk factor for end-organ injury, CVD, and death. The study of chronobiology, chronopharmacology, and chronotherapy in the treatment of hypertension started a few decades ago. Blood pressure (BP) and cardiovascular disease (CVD) are affected by our behaviour, such as what we eat, and also by the time of day, according to research published in the last decade.In addition, as compared to office BP calculated only once, the capacity of the night: day ratio of systolic BP to predict the risk of cardiovascular events is more accurate. The evidence clearly shows that nocturnal BP is the BP that is most consistently associated with cardiovascular risk prediction and offers more frequent safety monitoring. The circadian rhythm plays an important role in blood pressure control. As a result, a circadian condition like hypertension necessitates the use of chronopharmacotherapy.  However, different medications have been studied for their chronopharmacology and potential chronotherapy. The chronobiology of hypertension, as well as the chronopharmacology and chronotherapy of the different drugs used to treat it, are discussed in this article. Knowing the risk factors associated with this disease disorder, researchers are expected to develop more innovative chronopharmaceutical formulations for the control or treatment of hypertension.

Introduction: 20% of Bulgarians die of ischemic heart disease. A study was conducted in order to get more information on whether and to what extent mortality from ischemic disease in Bulgaria is related to external causes – in particular to the corpuscular solar radiation.

Materials and Methods: Data for mortality of ischemic heart disease from the Bulgarian National Statistical Institute were used. Data on solar corpuscular radiation was obtained from NOAA site. Correlation and regression analysis were used to process the data.

Results: Between the annual number of protons with energy above 1 MeV and alpha particles with an energy of 4 to 10 MeV on the one hand and the male and female ischemic disease mortality for Bulgaria, forms I20 to I25 according to the International Classification of Diseases 10^th revision, has a high statistically significant correlation. The dependence of female ischemic heart disease on the alpha particle flux was with the highest correlation coefficient: 0,939, a statistical significance level of 0,001. The mortality from ischemic disease in Bulgaria is negatively correlated with the horizontal component of the geomagnetic field in Bulgaria (for male mortality, the correlation coefficient is -0.888, the level of statistical significance 0.001). There are no statistically significant correlations between mortality from ischemic heart disease in Bulgaria on the one hand and the average annual number of sunspots and x-ray radiation (0.1 – 0.8 nm) of the geostationary orbit, on the other hand. There are no statistically significant correlations between galactic cosmic radiation and mortality from ischemic heart disease in Bulgaria. Examples are given for a date interval with intensive proton flux and ischemic mortality, correlated with it.

Discussion: The results indicate an existence of unknown phenomenon–a causal relationship between mortality from ischemic heart disease in Bulgaria on the one hand, and the fluxes of solar corpuscular radiation on the other. The contribution of this phenomenon to the risk of mortality from ischemic heart disease in Bulgaria is about 6 – 10%. This phenomenon is observable also in the other small area mid-latitude countries. The phenomenon seems to manifest itself during the day, most when the sun is around its climax, mainly during the warm part of the year, when more people are outdoors, unprotected by buildings.

Dental composites have been used as a restorative material for a long time. However, they have their limitations. This study evaluated the effect of placement techniques on clinical performance of class I composite resin restorations. A total of 40 patients with split-mouth design participated in this study. Each patient had two fillings according to the placement technique (either bulk or incremental packing) of the composite resin restorations. Group (A): Was packed by Tetric EvoCeram bulk-fill composite resin and Group (B): Was incrementally packed with Tetric EvoCeram composite resin. Restorations of the teeth were evaluated on the same day, one week, 3 months and 6 months to determine any signs of failure according to the modified United States Public Health Service (USPHS) criteria. At different follow-up periods, the results showed no significant differences for retention, marginal integrity, surface stain, gingival bleeding, and secondary caries and there were significant differences for color match, surface texture, and postoperative sensitivity. This study concluded that the nanohybrid composite resins demonstrated excellent clinical performance for 6 months follow up period.

In order to prepare treatment schedules, prevent OHSS, and advise the couple, it is important to predict ovarian reserve and ART cycle performance.  The aim of this study is to confirm the accuracy of AMH estimation as a predictor of a woman's fertility potential. This is a retrospective study of the effectiveness of multiple IVF/ICSI cycles on 100 women at an infertility centre, using the same protocols and procedures.AMH levels were found to be elevated in 20 people, low in 23 women, and average in 57 women. All women with a normal AMH had a good ovarian response; all women with a moderate AMH had a good ovarian response except one; and all women with a low AMH had a poor ovarian response. 128 cycles of IVF/ICSI were performed on hundred women, 184 embryo transfers were done with fresh and cryopreserved embryos, with clinical pregnancy in 49 women. In 57 women with normal AMH in 76 ART cycles, 123 embryo transfers, 39 clinical pregnancies occurred; in 20 women with high AMH in 28 ART cycles, 44 embryo transfers, 9 had clinical pregnancy; in 23 women with low AMH in 24 ART cycles, 17 embryo transfers, only one became pregnant. AMH can be used as a diagnostic and prognostic marker for ovarian reaction and hyperstimulation in women with PCOS, and the stimulation protocol can be changed to avoid OHSS.

Meigs syndrome is characterised as the presence of hydrothorax and ascites in the presence of solid benign ovarian tumours that resolve after the tumour is removed. Pseudo-Meigs syndrome is defined as hydrothorax and ascites associated with pelvic tumours other than those identified in Meigs syndrome. Meigs' syndrome is diagnosed based on a triad of an ovarian fibroma, pleural effusion and ascites.

For one year, a 45-year-old woman had abdominal distention and pain, as well as breathlessness for one month. Hydrothorax, ascites, and a massive pelvic tumour palpable abdominally, as well as another mass palpable per vaginally, were discovered during the clinical evaluation and investigations. For symptomatic relief, thoracocentesis and abdominal paracentesis were performed. An exploratory laparotomy was performed. Total hysterectomy was performed, as well as bilateral salpingo-oopherectomy.

The mass was diagnosed as an ovarian, serous, borderline tumour after a histopathological review.

Pseudo-Meigs syndrome was verified by the immediate postoperative resolution of hydrothorax and ascites.

Background: Botulism is a fatal illness if not diagnosed early and treated adequately.

Aim: The aim of this research was to assess the clinical and evolutionary patterns of foodborne botulism.

Materials and Methods: Data from four botulism cases was analysed retrospectively.Epidemiological causes, clinical manifestations, and specific bioassay findings for botulinum neurotoxin identification all supported a positive diagnosis.

Results: Serum samples tested positive for type B botulinum toxin. Under treatment with polyvalent antibotulinum serum evolution was positive for three cases, the forth requiring intensive care and mechanical ventilation but with recovery after months of rehabilitation.

Conclusion: Botulism/food poisoning can be caused by consuming inappropriately canned and stored food.

Almost a quarter of children in Kingdom of Saudi Arabia (KSA) are diagnosed with asthma, and it is the third most common reason for hospital admissions, representing a major public health challenge. This article review is a chapter from PhD thesis that identified the perspective of health professional and patients about the nursing role during pediatric asthma management based Burawoy’s extended case method. A qualitative paradigm was deemed to be most appropriate to fully grasp the meanings that the participants attach to the phenomenon of childhood asthma management.

Then, this review described a a new Nursing Role Development Model as a way of conceptualising the nursing role generally, in order to recognize the importance of multi-level environments as well as interactions between the levels as key factors influencing development which may applied to the field in Saudi Arabia. The impact of the clinical nurse specialist enhances patient care and promotes professional nursing practice. This article provides a review of the asthma management and its challenges, a description of multifactor such as professional power, policy, culture and gender roles on stakeholders’ perceptions of nurses in general and asthma nurse specialists in particular, and a discussion of opportunities and potential threats to future growth of the clinical nurse specialist role.

Introduction: Living in the Appalachian Region of the United States (US) has been linked to poorer pediatric health outcomes as well as a lack of emergency department and hospital surge capacity during disasters.

Purpose: We describe the characteristics of the Appalachian and non-Appalachian pediatric emergency networks in the US to determine if pediatric healthcare networks in Appalachia differ substantively from networks elsewhere in the US focusing on size, whether they were inter- or intra-state networks, and, most importantly, intensity of collaboration – factors impacting on pediatric disaster preparedness capabilities.

Methods: Data were collected using a two-stage survey process. The first survey was used to identify networks. The second survey assessed the disaster preparedness capabilities and achievements of each identified network, the degree of fund sharing, and the intensity and formality of information sharing among network partners. Networks were separated into Appalachia or non-Appalachia networks based on state location.

Results: Appalachian networks were more likely to be interstate and operating at the highest stage of network development compared to non-Appalachian networks, but were less likely to share funding among network partners.

Implications: Despite consistently insufficient pediatric capacity, particularly for disasters, and repeated calls for collaboration among pediatric care providers, only three out of seventeen identified pediatric networks were operating in Appalachia. Operating in Appalachia was associated with less fund sharing, although Appalachian networks were more likely to have achieved the highest stage of network development. Developing new pediatric networks and increasing the intensity of collaboration (i.e., increased levels of fund sharing) among existing networks may improve network operations, collaboration, disaster preparedness, and health outcomes in Appalachian states.

Hearing loss is the loss of hearing which may be due to tumors, trauma, genetic factors, aging etc. The majority of genetic hearing loss is inherited in an autosomal recessive pattern and often presents in the absence of a positive family history for hearing loss. The main aim and objective of the study is experimental studies conducted regarding knowledge about hearing loss related to genetics, involving 100 participants out of which 31 responded. 25 questions were validated and send through e-mails, responses from all the active participants were analysed. Findings have implicated that the audiologist have sufficient knowledge but practical skills are insufficient and there is a need to know about genetics of hearing loss. The findings of the present study are in tune with those reported on Audiologists from other geographic locations.

Knowledge about this increases self-confidence, better planning and treatment, better understanding of genetic disorders related to audiology.

In developing and underdeveloped countries, there is a high prevalence of iron deficiency anemia (IDA), which reduces cognitive performance, work performance and endurance. Children represent one of the most affected groups for this disorder, which may lead to decreased cognitive ability, delayed psychomotor development, behavioral changes, and physical growth. The association between IDA and infant development has been addressed in different studies, but there is no consensus on this question. In this context, this review highlights the results from the main published studies on this theme in an attempt to provide enlightening commentary for all those involved in this discussion.