The HIrisPlex system for simultaneous prediction of hair and eye colour from DNA

AbstractRecently, the field of predicting phenotypes of externally visible characteristics (EVCs) from DNA genotypes with the final aim of concentrating police investigations to find persons completely unknown to investigating authorities, also referred to as Forensic DNA Phenotyping (FDP), has started to become established in forensic biology. We previously developed and forensically validated the IrisPlex system for accurate prediction of blue and brown eye colour from DNA, and recently showed that all major hair colour categories are predictable from carefully selected DNA markers. Here, we introduce the newly developed HIrisPlex system, which is capable of simultaneously predicting both hair and eye colour from DNA. HIrisPlex consists of a single multiplex assay targeting 24 eye and hair colour predictive DNA variants including all 6 IrisPlex SNPs, as well as two prediction models, a newly developed model for hair colour categories and shade, and the previously developed IrisPlex model for eye colour. The HIrisPlex assay was designed to cope with low amounts of template DNA, as well as degraded DNA, and preliminary sensitivity testing revealed full DNA profiles down to 63pg input DNA. The power of the HIrisPlex system to predict hair colour was assessed in 1551 individuals from three different parts of Europe showing different hair colour frequencies. Using a 20% subset of individuals, while 80% were used for model building, the individual-based prediction accuracies employing a prediction-guided approach were 69.5% for blond, 78.5% for brown, 80% for red and 87.5% for black hair colour on average. Results from HIrisPlex analysis on worldwide DNA samples imply that HIrisPlex hair colour prediction is reliable independent of bio-geographic ancestry (similar to previous IrisPlex findings for eye colour). We furthermore demonstrate that it is possible to infer with a prediction accuracy of >86% if a brown-eyed, black-haired individual is of non-European (excluding regions nearby Europe) versus European (including nearby regions) bio-geographic origin solely from the strength of HIrisPlex eye and hair colour probabilities, which can provide extra intelligence for future forensic applications. The HIrisPlex system introduced here, including a single multiplex test assay, an interactive tool and prediction guide, and recommendations for reporting final outcomes, represents the first tool for simultaneously establishing categorical eye and hair colour of a person from DNA. The practical forensic application of the HIrisPlex system is expected to benefit cases where other avenues of investigation, including STR profiling, provide no leads on who the unknown crime scene sample donor or the unknown missing person might be

Global skin colour prediction from DNA

Human skin colour is highly heritable and externally visible with relevance in medical, forensic, and anthropological genetics. Although eye and hair colour can already be predicted with high accuracies from small sets of carefully selected DNA markers, knowledge about the genetic predictability of skin colour is limited. Here, we investigate the skin colour predictive value of 77 single-nucleotide polymorphisms (SNPs) from 37 genetic loci previously associated with human pigmentation using 2025 individuals from 31 global populations. We identified a minimal set of 36 highly informative skin colour predictive SNPs and developed a statistical prediction model capable of skin colour prediction on a global scale. Average cross-validated prediction accuracies expressed as area under the receiver-operating characteristic curve (AUC) ± standard deviation were 0.97 ± 0.02 for Light, 0.83 ± 0.11 for Dark, and 0.96 ± 0.03 for Dark-Black. When using a 5-category, this resulted in 0.74 ± 0.05 for Very Pale, 0.72 ± 0.03 for Pale, 0.73 ± 0.03 for Intermediate, 0.87±0.1 for Dark, and 0.97 ± 0.03 for Dark-Black. A comparative analysis in 194 independent samples from 17 populations demonstrated that our model outperformed a previously proposed 10-SNP-classifier approach with AUCs rising from 0.79 to 0.82 for White, comparable at the intermediate level of 0.63 and 0.62, respectively, and a large increase from 0.64 to 0.92 for Black. Overall, this study demonstrates that the chosen DNA markers and prediction model, particularly the 5-category level; allow skin colour predictions within and between continental regions for the first time, which will serve as a valuable resource for future applications in forensic and anthropologic genetics

Nutritional problems among patients affected by cancer during chemotherapy

Chemotherapy is one of the primary methods of treating cancer. Symptoms occurring during this form of therapy affect patients’ general health status, cause malnutrition, and deteriorate the quality of life of oncology patients, which results in cachexia. Malnutrition during treatment and the resulting bad general health status of patients may lead to disqualification from chemotherapy treatment. Cachexia is a complex and multi-factorial process, characterised by the nearly unknown mechanism of its development. What is extremely crucial is the evaluation of the state of malnutrition among patients qualified for cytostatic therapy and regular control of this state during therapy and immediately after its termination. Clinical practice indicates the importance of applying pharmacotherapy, nutritional treatment, and targeted education for the patient and their closest family regarding diet and correct behaviour, which significantly reduces anxiety and stress

Procedure in the prevention and nurturing of inflammatory changes of oral mucositis among patients treated for oncological conditions

Oral mucositis is a serious complication occurring in the process of chemotherapy and/or radiotherapy. Ailments related to oral mucositis may bring about pain, reduce the amount of food intake, and eventually deteriorate the quality of life. This complication arises after radiotherapy, chemotherapy, transplantation of haematopoietic stem cells, and after molecularly targeted therapy. These symptoms may be the result of delay of treatment or dose reduction of successive cycles of chemotherapy, which, consequently, may have an impact on oncological treatment

Efficiency of patients with carcinoma and acceptance of the disease

Introduction: Human functioning is based on physical, psychological, social and spiritual areas. The emergence of cancer and all types of problems affect these areas. Adapting to cancer is very important for the process of therapy, and acceptance of the disease is its determinant. Aim of the research study : To determine the relationship between oncological patients physical fitness and their acceptance of the disease. Material and methods: The following research techniques and tools have been used: a questionnaire survey, the Repta operation scale for assessing the functionality of patients in the course of the disease, a modified Pain Assessment Worksheet for evaluating the intensity of pain and its impact on daily activities and the AIS scale to assess the degree of acceptance of the disease. Results: Most of the respondents were fully efficient in the field of the activities of daily living. The vast majority of respondents did not feel pain, or felt pain that could be taken lightly. Pain that made daily functioning difficult, particularly in mobility and locomotion, concerned only persons over 60 years old. In the study group there was dominantly an average degree of acceptance of the disease; a small group was marked by a high level, and only a few people showed a lack of acceptance of the disease. Independent people and people in need of assistance accepted the illness at a medium level, and vulnerable patients showed the lowest level of acceptance. Conclusions : The efficiency of patients with cancer affects the level of acceptance of the disease. Cancer for the majority of respondents is not an obstacle in performing basic activities. Most respondents accept the disease, a small part selects a high level, and only a few people show a lack of acceptance of the disease

Late diagnosis of cerebral palsy in a 16-year-old girl – a case report

Cerebral palsy is the most common cause of motor disability in children. Cerebral palsy is a static encephalopathy with a variable clinical picture and multifactorial aetiology. Disorders arise from disturbances in the early development of the brain in the foetal, perinatal or postnatal period. The disease affects around 17 million people worldwide; its incidence is estimated to be 1.5–3 per 1,000 live births. A slight male predominance is observed. The disease has a multifactorial aetiology, with prematurity being the most important risk factor. There are four types of cerebral palsy: spastic (the most common – (70%), dystonic (10%), mixed (15%) and ataxic (5%). In addition to motor disability of varying severity, the majority of patients present with other accompanying deficits, such as mental retardation, epilepsy, dysphagia, impaired hearing and vision. The diagnosis of cerebral palsy should be based on detailed medical history, including pregnancy and childbirth as well as a regular assessment of the child’s development from the first months of life. In the case of clinical doubts, the diagnosis is extended to include magnetic resonance imaging, electroencephalography, metabolic and genetic tests. Children with cerebral palsy require a comprehensive, multidisciplinary care, including physical therapy and rehabilitation. Bobath and Vojta concepts are the most common rehabilitation approaches. Early diagnosis and regular rehabilitation are crucial to ensure adequate quality of life for a child with cerebral palsy. The paper presents a case of a 16-year-old girl with a long history of pain in the lower limbs, spine and temporomandibular joints. The symptoms were accompanied by chest pain as well as numbness and weakness of the left upper limb.W krajach wysokorozwiniętych mózgowe porażenie dziecięce stanowi najczęstszą przyczynę niepełnosprawności ruchowej występującej w dzieciństwie. Jest to stałe, choć zmieniające się w czasie zaburzenie ruchu i postawy, wynikające z trwałego i niepostępującego uszkodzenia mózgu w stadium jego niezakończonego rozwoju. Choroba dotyczy około 17 milionów ludzi na całym świecie, a zapadalność wynosi 1,5–3 na 1000 żywych urodzeń. Obserwuje się niewielką przewagę zachorowań wśród chłopców. Etiologia choroby jest zróżnicowana, jednak najważniejszy czynnik ryzyka stanowi wcześniactwo. Wyróżnia się cztery postaci mózgowego porażenia dziecięcego: spastyczną (70%), dystoniczną (10%), ataktyczną (5%) i mieszaną (15%). Towarzyszą mu również inne zaburzenia, w tym upośledzenie umysłowe, padaczka oraz zaburzenia wzroku, słuchu i połykania. Podstawą diagnozy są szczegółowy wywiad lekarski, uwzględniający przebieg ciąży i porodu, oraz regularna ocena rozwoju dziecka od pierwszych miesięcy życia. W przypadku wątpliwości klinicznych diagnostykę uzupełnia się o badanie rezonansu magnetycznego głowy, elektroencefalografię, testy metaboliczne i genetyczne. Dzieci z mózgowym porażeniem dziecięcym wymagają kompleksowej, wielodyscyplinarnej opieki. Najczęściej są rehabilitowane według metody Bobath lub Vojty. Wczesna i systematyczna rehabilitacja jest niezbędna do tego, by zmniejszyć trwałe następstwa choroby i poprawić jakość życia pacjenta. W pracy przedstawiono opis przypadku 16-letniej dziewczynki z obciążonym wywiadem okołoporodowym, konsultowanej przez licznych specjalistów z powodu długotrwałego bólu kończyn dolnych, kręgosłupa i stawów skroniowo-żuchwowych. Objawom towarzyszyły ból w klatce piersiowej oraz drętwienie i osłabienie lewej kończyny górnej

The role of support in wrestling with cancer

The support provided to patients with cancer is an important determinant of their sense of security and quality of life at all stages of diagnosis, treatment, rehabilitation, remission or progression of the disease. The support is complex; its nature and scope depend on the current needs of the people who receive it. The subjective dimension of the support given to oncology patients offer sample opportunities to address the psychological impact, overcoming stress, a pathy and feelings of lesser self-esteem and use less ness. The level of support very often determines the level of optimistic attitude to life of patients and influences their motivation to fight with the disease