Pycnodysostosis with Epilepsy in a Malawian patient: A case report

Background: Pycnodysostosis is a very rare genetic disease resulting from deletion the short arm of one of the group – G chromosomes leading to deficiency of Cathepsin –K, a cysteine protease needed for proper functioning of Osteoclasts to resorb and remodel bone. Unlike many skeletal dysplasias, it is lysosomal enzyme defect and it is inherited in a typical autosomal recessive mode. Patients present with repeated fractures due to brittle bone as well as multiple other health problems. World wide extremely few cases have been reported. This presentation therefore is aimed at documenting an occurrence of a very rare disease from Blantyre, Malawi. We hope that this report creates awareness among clinicians in dealing with some 200 various types of skeletal dysplasias, and the diagnosis should be considered when evaluating patients with strikingly short stature. This is a typical case description of the syndrome, including clinical approach and radiological features of a patient seen at College of Medicine, Queen Elisabeth Central Hospital (QECH), in January 2009.Case report: A 38 years old Malawian male with dark African complexion presented to QECH with a left side combined supracondylar and olecranon fracture which he had sustained following a simple twisting injury. It was the 7th fracture in our patient’s life. He is a known epileptic on medication and had poor performance at school. Open reduction and internal fixation (ORIF) of the fracture was successfully done. The many clinical, hematological and radiological findings seen in our patient were consistent with a diagnosis of Pycnodysostosis.Conclusion: This may be the first case report of Pycnodysostosis with seizure from Africa. Increased clinical awareness and a systematic approach (algorism) to a very rare disease can lead to a reasonable level of accuracy in making diagnosis in set-ups lacking genetic or molecular methods of syndrome investigation

Ward Round - Late Presentation of Acute Compartment Syndrome in the Thigh

A 36 year-old previously healthy and fit man from Thyolo, Malawi, fell from his bicycle. He was seen at Queen Elizabeth Central Hospital (QECH) on the same day and was diagnosed to have a mid shaft transverse fracture of left femur (Fig 2) and an ipsilateral transverse humerus fracture. Both fractureswere closed and there were no other injuries. He had stable vital signs on admission and on subsequent measurements. A U-slab was applied to the humerus fracture. The femur fracture was temporarily immobilized with skin traction and pain was managed with oral ibuprofen 400mg twice daily for5 days. Conservative treatment was agreed upon and he was kept on traction. He was pain free and not taking any analgesia following the course of ibuprofen mentioned. Twelve days after admission he started to complain of increasing pain and tightness in his left thigh. Sensation and motor functio

Ward Round - Crocodile bites in Malawi: microbiology and surgical management

We present a case series of 5 patients admitted over 5 months to Queen Elizabeth Central Hospital who had sustained injuries from a crocodile bite. Three patients required amputation of a limb. The severe soft tissue injury associated with a crocodile bite and the unusual normal oral flora of the crocodile create challenges in treatment. Progressive tissue destruction and haemolysis are complications of such infected wounds. An antibiotic regime is recommended that covers gram negative rods, anaerobes and may include doxycycline, as well as the need to have a low threshold for early amputation. Malawi Medical Journal Vol. 21 (1) 2009: pp. 29-3

Multi-Centered Black Hole Flows

We describe the systematical construction of the first order formalism for multi-centered black holes with flat three dimensional base-space, within the so-called $T^{3}$ model of N=2, D=4 ungauged Maxwell-Einstein supergravity. The three possible flow classes (BPS, composite non-BPS and almost-BPS) are analyzed in detail, and various solutions, such as single-centered (static or under-rotating) and all known multi-centered black holes, are recovered in this unified framework. We also consider the possibility of obtaining new solutions. The almost-BPS class is proved to split into two general sub-classes, corresponding to a positive or negative value of the duality-invariant polynomial for the total charge; the well known almost BPS system is shown to be a particular solution of the second sub-class.Comment: 17 pages,no figure

Investigating and learning lessons from early experiences of implementing ePrescribing systems into NHS hospitals:a questionnaire study

Background: ePrescribing systems have significant potential to improve the safety and efficiency of healthcare, but they need to be carefully selected and implemented to maximise benefits. Implementations in English hospitals are in the early stages and there is a lack of standards guiding the procurement, functional specifications, and expected benefits. We sought to provide an updated overview of the current picture in relation to implementation of ePrescribing systems, explore existing strategies, and identify early lessons learned.Methods: a descriptive questionnaire-based study, which included closed and free text questions and involved both quantitative and qualitative analysis of the data generated.Results: we obtained responses from 85 of 108 NHS staff (78.7% response rate). At least 6% (n = 10) of the 168 English NHS Trusts have already implemented ePrescribing systems, 2% (n = 4) have no plans of implementing, and 34% (n = 55) are planning to implement with intended rapid implementation timelines driven by high expectations surrounding improved safety and efficiency of care. The majority are unclear as to which system to choose, but integration with existing systems and sophisticated decision support functionality are important decisive factors. Participants highlighted the need for increased guidance in relation to implementation strategy, system choice and standards, as well as the need for top-level management support to adequately resource the project. Although some early benefits were reported by hospitals that had already implemented, the hoped for benefits relating to improved efficiency and cost-savings remain elusive due to a lack of system maturity.Conclusions: whilst few have begun implementation, there is considerable interest in ePrescribing systems with ambitious timelines amongst those hospitals that are planning implementations. In order to ensure maximum chances of realising benefits, there is a need for increased guidance in relation to implementation strategy, system choice and standards, as well as increased financial resources to fund local activitie

Long-term effects of chronic light pollution on seasonal functions of European blackbirds (turdus merula)

Light pollution is known to affect important biological functions of wild animals, including daily and annual cycles. However, knowledge about long-term effects of chronic exposure to artificial light at night is still very limited. Here we present data on reproductive physiology, molt and locomotor activity during two-year cycles of European blackbirds (Turdus merula) exposed to either dark nights or 0.3 lux at night. As expected, control birds kept under dark nights exhibited two regular testicular and testosterone cycles during the two-year experiment. Control urban birds developed testes faster than their control rural conspecifics. Conversely, while in the first year blackbirds exposed to light at night showed a normal but earlier gonadal cycle compared to control birds, during the second year the reproductive system did not develop at all: both testicular size and testosterone concentration were at baseline levels in all birds. In addition, molt sequence in light-treated birds was more irregular than in control birds in both years. Analysis of locomotor activity showed that birds were still synchronized to the underlying light-dark cycle. We suggest that the lack of reproductive activity and irregular molt progression were possibly the results of i) birds being stuck in a photorefractory state and/or ii) chronic stress. Our data show that chronic low intensities of light at night can dramatically affect the reproductive system. Future studies are needed in order to investigate if and how urban animals avoid such negative impact and to elucidate the physiological mechanisms behind these profound long-term effects of artificial light at night. Finally we call for collaboration between scientists and policy makers to limit the impact of light pollution on animals and ecosystems

Cost-effectiveness of ward-based pharmacy care in surgical patients: protocol of the SUREPILL (Surgery & Pharmacy In Liaison) study

<p>Abstract</p> <p>Background</p> <p>Preventable adverse drug events (pADEs) are widely known to be a health care issue for hospitalized patients. Surgical patients are especially at risk, but prevention of pADEs in this population is not demonstrated before. Ward-based pharmacy interventions seem effective in reducing pADEs in medical patients. The cost-effectiveness of these preventive efforts still needs to be assessed in a comparative study of high methodological standard and also in the surgical population. For these aims the SUREPILL (Surgery & Pharmacy in Liaison) study is initiated.</p> <p>Methods/Design</p> <p>A multi-centre controlled trial, with randomisation at ward-level and preceding baseline assessments is designed. Patients admitted to the surgical study wards for elective surgery with an expected length of stay of more than 48 hours will be included. Patients admitted to the intervention ward, will receive ward-based pharmacy care from the clinical pharmacy team, i.e. pharmacy practitioners and hospital pharmacists. This ward-based pharmacy intervention includes medication reconciliation in consultation with the patient at admission, daily medication review with face-to-face contact with the ward doctor, and patient counselling at discharge. Patients admitted in the control ward, will receive standard pharmaceutical care.</p> <p>The primary clinical outcome measure is the number of pADEs per 100 elective admissions. These pADEs will be measured by systematic patient record evaluation using a trigger tool. Patient records positive for a trigger will be evaluated on causality, severity and preventability by an independent expert panel. In addition, an economic evaluation will be performed from a societal perspective with the costs per preventable ADE as the primary economic outcome. Other outcomes of this study are: severity of pADEs, number of patients with pADEs per total number of admissions, direct (non-)medical costs and indirect non-medical costs, extra costs per prevented ADE, number and type of pharmacy interventions, length of hospital stay, complications registered in a national complication registration system for surgery, number of readmissions within three months after initial admission (follow-up), quality of life and number of non-institutionalized days during follow-up.</p> <p>Discussion</p> <p>This study will assess the cost-effectiveness of ward-based pharmacy care on preventable adverse drug events in surgical patients from a societal perspective, using a comparative study design.</p> <p>Trial registration</p> <p>Netherlands Trial Register (NTR): <a href="http://www.trialregister.nl/trialreg/admin/rctview.asp?TC=2258">NTR2258</a></p

Ecology: a prerequisite for malaria elimination and eradication

* Existing front-line vector control measures, such as insecticide-treated nets and residual sprays, cannot break the transmission cycle of Plasmodium falciparum in the most intensely endemic parts of Africa and the Pacific * The goal of malaria eradication will require urgent strategic investment into understanding the ecology and evolution of the mosquito vectors that transmit malaria * Priority areas will include understanding aspects of the mosquito life cycle beyond the blood feeding processes which directly mediate malaria transmission * Global commitment to malaria eradication necessitates a corresponding long-term commitment to vector ecolog

Identification of Potential Therapeutic Drugs for Huntington's Disease using Caenorhabditis elegans

The prolonged time course of Huntington's disease (HD) neurodegeneration increases both the time and cost of testing potential therapeutic compounds in mammalian models. An alternative is to initially assess the efficacy of compounds in invertebrate models, reducing time of testing from months to days.We screened candidate therapeutic compounds that were identified previously in cell culture/animal studies in a C. elegans HD model and found that two FDA approved drugs, lithium chloride and mithramycin, independently and in combination suppressed HD neurotoxicity. Aging is a critical contributor to late onset neurodegenerative diseases. Using a genetic strategy and a novel assay, we demonstrate that lithium chloride and mithramycin remain neuroprotective independent of activity of the forkhead transcription factor DAF-16, which mediates the effects of the insulin-like signaling pathway on aging.These results suggest that pathways involved in polyglutamine-induced degeneration are distinct from specific aging pathways. The assays presented here will be useful for rapid and inexpensive testing of other potential HD drugs and elucidating pathways of drug action. Additionally, the neuroprotection conferred by lithium chloride and mithramycin suggests that these drugs may be useful for polyglutamine disease therapy

“Beyond words”: a researcher’s guide to using photo elicitation in psychology

The use of photo elicitation is limited within the field of psychology despite its theoretical and practical potential. It offers significant benefits as a qualitative method that could present a new and interesting way of exploring previously understood topics within the discipline. Within our discussions, we present a Step-by-Step guide in which we outline the key practical stages, as well as ethical assurances involved in photo elicitation research, using our ongoing research as an illustrative example. It is intended that this could be used as a model of good practice for developing research paradigms beyond those typically used within the psychology discipline