Identification Of Disorders Research Articles

374. Using acylcarnitine screening for identification of newborn fatty acid oxidation disorders (FAOD) from pregnancies complicated by acute fatty liver

Introduction Acute fatty liver of pregnancy (AFLP) is a rare but potentially fatal disease developing in the third trimester and affects 5 per 100,000 pregnancies. Women at risk include primips, those with BMI 20 and twin pregnancies.1 The underlying pathophysiology in AFLP is poorly understood but has been linked with newborn FAOD with long-chain 3-hydroxyacyl coenzyme-A dehydrogenase deficiency (LCHAD) reported in 1 in 5 babies.2 Since defective LCHAD enzyme activity leads to accumulation of acylcarnitines species of varying carbon length in the blood, acylcarnitine screening in babies born from AFLP pregnancies may help to pick up cases non-invasively. Aims We set up the S creening of A cylcarnitines of M others and B abies in A FLP (SAMBA) to: Assess whether acylcarnitine screening from routinely collected national screening programme newborn blood spots is a reliable method to identify FAOD. Prospectively define the incidence of LCHAD in AFLP pregnancies. Methods AFLP was diagnosed using the Swansea criteria.[c] Tandem Mass Spectrometry (MS) API5000 was used to measure free carnitine (C0) and acylcarnitines[C2,C3,C4,C5,C8,C10,C14,C14:1, C16,C16OH,C16:1OH,C18OH,C3DC(DC = dicarboxylic),C4DC (C5OH & methylmalonyl carnitine-isobaric), C5DC(glutaryl) and C6DC] from the newborn screening blood spot cards. DNA analysis was undertaken in stillbirth cases to identify the E474Q mutation reported in 87% of LCHAD cases. Results Between 2012-current, 12 women were diagnosed with AFLP and patients presented with nausea, vomiting, headache, malaise and jaundice. 16.6% were twin pregnancies. In 13/14 babies, all measurable hydroxyacylcarnitines (free, short, medium and long-chain) were found to be normal. There was 1 stillbirth (perinatal mortality rate 71.4 per 1000) and DNA analysis was negative for the E474Q mutation. Conclusions The application of tandem mass spectrometry has proved to be an effective and non-invasive tool to identify most FAOD. However, in our cohort so far, we have been unable to demonstrate any indication of newborn LCHAD or other FAOD in AFLP cases.

Detection and Classification of Leukemia using MPFCM Segmentation and Random Forest with Boosting Techniques

Identification of blood disorders is through visual inspection of microscopic blood cell images. From the identification of blood disorders lead to classification of certain diseases related to blood. We propose an automatic segmentation method for segmenting White blood cell images. Firstly, modified possibilistic fuzzy c-means algorithm is proposed to detect the contours in the image. The GLCM features are extracted and features are selected by MRMR. Adaptive boosting and LS Boosting has been utilized to classify blast cells from normal lymphocyte cells. Comparison performance of classification accuracy was carried out. The effectiveness of the classification system is tested with the total of 80 samples collected. The evaluated results demonstrate that our method outperformed the existing systems with an accuracy of 88 %.

Integrating Applied Behavior Analysis and Infant/Early Childhood Mental Health: Implications for Early Intensive Intervention in Autism

Identification of autism spectrum disorder (ASD) has been occurring at earlier ages, leading to a need for interventions that suit this age range. Because young children’s development is highly dependent on adults and positive adult relationships, fields that traditionally have success in treating ASD, such as Applied Behavior Analysis (ABA), must explicitly consider relationships. At the same time, Infant/Early Childhood Mental Health (I/ECMH) specialists that have traditionally focused on the parent and child relationship must recognize the importance of addressing atypical or difficult child behavior as major motivating factor or port of entry with families. This paper discusses two seemingly different approaches to the treatment of young children, the Applied Behavior Analysis (ABA) informed Early Start Denver Model (ESDM) and Infant/Early Childhood Mental Health (I/ECMH) and proposes that they are complementary therapies that can be used simultaneously within the context of an interdisciplinary team to treat the “whole” child and his/her relationships. As demonstrated by the case example, combining the strengths of ABA and mental health services when working with very young children and families has the potential for many benefits.

The nature and piloting of a tool to screen for acquired communication disorders in Aboriginal Australians after brain injury: exploring culturally valid assessment to improve rehabilitation pathways

Background: Identification of acquired communication disorders (ACD) after brain injury is an important first step in ensuring that brain injury survivors receive appropriate services and support. ...

Identification of Somatic Disorders Related to Psychoactive Drug Use from an Inpatient Database in a French University Hospital.

Studies have explored hospital records to identify serious complications related to use of psychoactive drugs, but this approach is time consuming with a high rate of false positives. We propose a method to improve the detection of these somatic complications from an inpatient database. Hospitalisations in Toulouse University Hospital (France) between 1 July and 31 December 2013 with at least one International Classification of Diseases, Tenth Edition (ICD-10) code related to possible abuse/addiction (F11-F19: "mental and behavioural disorder due to psychoactive substance use", T40-T43: "poisoning", or X61-X62: "self-poisoning") and at least another ICD-10 code unrelated to abuse/addiction were extracted. Hospital discharge summaries (HDS) were reviewed using two strategies: in Strategy 1, all HDS were reviewed, whereas in Strategy 2, associated ICD-10 codes unrelated to abuse/addiction were firstly assessed to preselect some HDS. Positive predictive values (PPVs) were calculated to evaluate their performance. With Strategy 1, we found 58 psychoactive drug-related somatic complications among the 578 hospitalisations extracted (PPV = 10.0%), including three cases spontaneously reported to the French Addictovigilance Network. Strategy 2 retained 94.8% of the hospitalisations identified with Strategy 1, while the number of reviewed HDS was reduced by half (PPV = 20.1%). Cannabis (56.9%), cocaine (27.6%) and prescription opioids (22.4%) were mainly involved. Complications mainly corresponded to nervous (25.9%) and respiratory and circulatory (22.4%) system disorders. Combining extraction of ICD-10 codes and a focused review of a preselection of relevant hospitalisations appears to be efficient and time-saving. This method should be applied in other hospital settings before considering the exploration of inpatient data on a wider scale.

Molecular Mechanisms of the Relationship between Thyroid Dysfunctions and Diabetes Mellitus

Type 1 and type 2 diabetes mellitus (DM) are known to increase the incidence of thyroid gland (TG) dysfunctions. The review addresses the literature data and our experimental results on the molecular mechanisms that underlie thyroid disorders under DM. Most important of these mechanisms are the attenuation of thyrocyte adenylyl cyclase signaling system sensitivity to thyroid-stimulating hormone, the decrease in the number of thyroid hormone receptors in peripheral tissues, and the decline in activity as well as changes in the ratio of different deiodinase forms in these tissues. Decreased activity of D2 deiodinases, which convert thyroxine into the active form of triiodothyronine, is associated with the development of insulin resistance, while decreased activity of D3 deiodinases, which catalyze inactivation of triiodothyronine in pancreatic β cells, suppresses insulin secretion and leads to insulin deficiency. Thus, both the excess and the deficiency of thyroid hormones can entail diabetic pathology. Identification of thyroid disorders is of utmost importance for elaborating novel approaches to treat and prevent thyroid diseases associated with type 1 and type 2 DM.

Effects of sleep quality on the oral health in type 2 diabetic patients

Objective To explore the effect of sleep quality on the oral health in type 2 diabetic patients, and provide basis for the improvement of their oral health. Methods A total of 123 type 2 diabetic patients hospitalized in 2 Class Ⅲ Grade A hospitals in Nanjing from March 2017 to June 2017 were recruited in this study using convenient sampling method. Data was collected through Oral Health Impact Profile (OHIP-14) and Pittsburgh Sleep Quality Index (PSQI) . The correlation between sleep quality and oral health of type 2 diabetic patients was analyzed using hierarchical regression. Results The total PSQI score was (7.72±3.42) and the incidence of sleep disorder with type 2 diabetic patients was 46.3% (PSQI≥ 8) . The total OHIP-14 score was (11.84±8.62) . In the sleep disorder group, the correlation score between the total OHIP-14 score and functional limitation, pain and discomfort, disability, handicap of independence were (13.93±8.94) , (3.82±2.85) , (4.68±2.54) , (1.47±2.07) , (3.95±3.68) . Compared to patients with good sleep quality, patients with sleep disorder had significantly higher OHIP-14 scores and factor scores except for psychological disability (t=3.21, 2.65, 3.45, 2.57; P<0.05) . Hierarchical regression analysis indicated that sleep quality was positively relevant to oral health, which could explain 6.1% of the variance of research capacity (P=0.024) . Conclusions The incidence of sleep disorder is high in patients with type 2 diabetes and sleep disorder has a negative impact on oral health. Medical staff should pay more attention to the early identification of sleep disorders in patients with type 2 diabetes, and take timely measures to improve the sleep quality, so as to promote the oral health of patients. Key words: Diabetes mellitus, type 2; Sleep quality; Oral health

Saúde mental em uma unidade de atenção primária à saúde: relato de experiência

Objetivo: Relatar as experiências de discentes de graduação em Enfermagem durante as aulas práticas da disciplina Enfermagem em Saúde Mental em uma Unidade Básica de Saúde (UBS).Descrição da experiência: Vivência de discentes e docentes do curso de Graduação em Enfermagem da Universidade Federal de Juiz de Fora durante a realização da disciplina de Saúde Mental, em relação à implantação de um campo de prática da referida disciplina em uma UBS da cidade. A finalidade deste campo foi proporcionar uma maior visibilidade à saúde mental, com um olhar diferenciado aos usuários da Atenção Primária à Saúde (APS).Conclusão: A inovação proposta com esta vivência na prática de saúde mental possibilitou o crescimento de todos os envolvidos no processo. A APS permite a atuação na prevenção de agravos que podem ser ocasionados pela falta de identificação e tratamento precoce de transtornos mentais. No entanto, para a construção de rotinas de ação conjunta das equipes para o desenvolvimento da saúde mental, diversas barreiras precisam ser transpostas, entre elas as dificuldades dos profissionais para a assistência aos portadores de transtorno mental dentro da Estratégia da Saúde da Família (ESF).

Genetics of Hypertension

Despite the high prevalence of hypertension and its resulting morbidity and mortality, our knowledge of its pathogenesis remains limited. Strong evidence for a genetic role in blood pressure (BP) variability was first provided by familial segregation studies and the identification of mendelian disorders causing marked hypertension. These monogenic diseases, largely involving genes in sodium homeostatic pathways, have reinforced the Guytonian principle that BP is largely governed by renal sodium excretion. More recently, large population based genome wide association studies (GWAS) have attempted to fill in the missing heritability of the BP trait, with mixed results. Although many variants have been identified that are robustly associated with BP variability, they are mostly rare and together are responsible for a tiny percentage of total trait variability. Observations from GWAS include shared risk variants for cardiovascular and kidney disease, including polymorphisms in UMOD. Mutations in this gene are known to cause monogenic renal disease. GWAS data may be employed for pathway analysis to discover the etiology of hypertension as well providing the potential to interrogate drug responses to antihypertensive agents depending on genotype. The chapter concludes with describing future directions in BP genetics including evidence of the role of epigenetic mechanisms in BP pathogenesis. As we enter the era of whole genome sequencing, the possibility exists to discover the missing hereditability of BP variation although this technology will present its own challenges. This review contains 6 figures, 2 tables and 94 references Key words: adrenocorticotropic hormone, autosomal dominant, autosomal recessive, cytosine-phosphate-guanine, epithelial sodium channel

Polysomnography and bruxism

Introduction: Bruxism is a parafunctional oral activity that includes tightening, grinding and clapping teeth during sleep or wakefulness. Sleep bruxism (BS) is detected by electromyography (EMG) through the recording of masticatory muscle function during sleep. The EMG should be part of a more comprehensive examination, the polysomnography (PSG). Objectives: To analyze the polysomnographic aspects of bruxism and its relation to sleep disorders. Methodology: An integrative review was carried out in MEDLINE, LILACS, BDENF and SCIELO databases, with publications between 2012 and 2017, in Portuguese and English, using the descriptors: “Bruxism” and “Polissonography”. Result: 83 related articles were found, of which 3 served as theoretical basis. Discussion: PSG records the main nocturnal physiological events through electrodes and sensors arranged along the skull, which allows the identification of disorders, such as BS. In addition to the EMG there is the use of electrocardiogram, electroencephalogram, electro-oculogram and respiratory activity. PSG characterizes bruxism as abnormal continuous or intercalated peaks of temporo-massetric activity. During sleep, in normal individuals, physiologically, there are up to two mandibular movements per hour, but in the pathological state this happens four to twelve times an hour. Bruxism events occur mainly during light sleep (non-REM) and are usually associated with brief non-periodic body movements and micro-awakenings, which generate sleep fragmentation. It is believed that BS is one of the last events following brain and cardiac activations of micro arousers in response to respiratory obstruction. Conclusion: The aetiopathogenesis of BS is multifactorial, covering hereditary factors, disorders of the nervous system, micro-arousals, stress and anxiety. Thus the treatment is based on the signs and symptoms presented by the patients. Measures such as placement of stabilizing plaques, relaxation strategies and some drugs are proposed for therapy.

Supplemental Material for Improving the Global Identification of Bipolar Spectrum Disorders: Meta-Analysis of the Diagnostic Accuracy of Checklists

Supplemental Material for Improving the Global Identification of Bipolar Spectrum Disorders: Meta-Analysis of the Diagnostic Accuracy of Checklists

Identification of Cow-related Health Disorders Affecting the Culling in Torbat-e Jam Dairy Farms

An experiment was conducted to assess characterization of cow-related health disorders affecting the culling in Torbat-e Jam dairy farms. In total, the data of 5874 lactating cows have been used in this study (1997 to 2017). The logistic regression was applied to investigate the associations between the response variable, the risk of culling, and predictor variables including the parity, calving ease, birth type, calving season, and age at the first calving. The risk of culling increased with parity and twinning (P&lt; 0.001). The odds ratio (OR) of a cow leaving the herd were 1, 1.17, 1.35, 2.06, 2.95 and 3.55 for parities 1 to 6, respectively, 1 and 1.14 for twinning. The OR increased with increasing in calving difficulty score (P&lt; 0.001). The OR were 1, 1.21, 1.26 and 2.30 for calving difficulty score 1 to 4, respectively. Calving in hot season increased the risk of culling (P&lt; 0.001). The OR were 1, 1.59, 1.46 and 1.06 for spring, summer, fall and winter respectively. Cows that calved first at about 24 months of age had a lower risk of culling (P&lt; 0.001). These findings help farmers reduce their involuntary culling rates in dairy herds by improving the management of dairy cows in Torbat-e Jam.

Approach to Acid-Base Disorders

This review on the approach to acid-base disorders uses the physiologic approach to assessing acid-base status, namely that based on the H2CO3/[HCO3–] buffer pair. A simple acid-base disorder is characterized by a primary abnormality in either carbon dioxide tension (Pco2) or serum [HCO3–] accompanied by the appropriate secondary response in the other component. The four cardinal, simple acid-base disorders are categorized into respiratory disorders and metabolic disorders. Respiratory disorders are expressed as primary changes in Pco2 and include respiratory acidosis or primary hypercapnia (primary increase in Pco2) and respiratory alkalosis or primary hypocapnia (primary decrease in Pco2). Metabolic disorders are expressed as primary changes in serum [HCO3–]) and include metabolic acidosis (primary decrease in serum [HCO3–]) and metabolic alkalosis (primary increase in serum [HCO3–]). A mixed acid-base disorder denotes the simultaneous occurrence of two or more simple acid-base disorders. Arriving at an accurate acid-base diagnosis rests with assessment of the accuracy of the acid-base variables, calculation of the serum anion gap, and identification of the dominant acid-base disorder and whether a simple or mixed disorder is present. Identifying the cause of the acid-base disorder depends on a detailed history and physical examination as well as obtaining additional testing, as appropriate. Key words: acid-base disorders; simple disorders; mixed disorders; anion gap; physiologic approach; physicochemical approach; base-excess approach

Approach to Acid-Base Disorders

This review on the approach to acid-base disorders uses the physiologic approach to assessing acid-base status, namely that based on the H2CO3/[HCO3–] buffer pair. A simple acid-base disorder is characterized by a primary abnormality in either carbon dioxide tension (Pco2) or serum [HCO3–] accompanied by the appropriate secondary response in the other component. The four cardinal, simple acid-base disorders are categorized into respiratory disorders and metabolic disorders. Respiratory disorders are expressed as primary changes in Pco2 and include respiratory acidosis or primary hypercapnia (primary increase in Pco2) and respiratory alkalosis or primary hypocapnia (primary decrease in Pco2). Metabolic disorders are expressed as primary changes in serum [HCO3–]) and include metabolic acidosis (primary decrease in serum [HCO3–]) and metabolic alkalosis (primary increase in serum [HCO3–]). A mixed acid-base disorder denotes the simultaneous occurrence of two or more simple acid-base disorders. Arriving at an accurate acid-base diagnosis rests with assessment of the accuracy of the acid-base variables, calculation of the serum anion gap, and identification of the dominant acid-base disorder and whether a simple or mixed disorder is present. Identifying the cause of the acid-base disorder depends on a detailed history and physical examination as well as obtaining additional testing, as appropriate. Key words: acid-base disorders; simple disorders; mixed disorders; anion gap; physiologic approach; physicochemical approach; base-excess approach

Process evaluation of the systematic medical appraisal, referral and treatment (SMART) mental health project in rural India

BackgroundAvailability of basic mental health services is limited in rural areas of India. Health system and individual level factors such as lack of mental health professionals and infrastructure, poor awareness about mental health, stigma related to help seeking, are responsible for poor awareness and use of mental health services. We implemented a mental health services delivery model that leveraged technology and task sharing to facilitate identification and treatment of common mental disorders (CMDs) such as stress, depression, anxiety and suicide risk in rural areas of the state of Andhra Pradesh, India. The intervention was delivered by lay village health workers (Accredited Social Health Activists – ASHAs) and primary care doctors. An anti-stigma campaign was implemented prior to this activity. This paper reports the process evaluation of the intervention using mixed methods.MethodsA mixed methods pre-post evaluation assessed the intervention using quantitative service usage analytics from the server, and qualitative interviews with different stakeholders. Barriers and facilitators in implementing the intervention were identified.ResultsHealth service use increased significantly at post-intervention, ASHAs could followup 78.6% of those who had screened positive, and 78.6% of the 1243 Interactive Voice Response System calls made, were successful. Most respondents were aware of the intervention. They indicated that knowledge received through the intervention empowered them to approach ASHAs and share their mental health symptoms. ASHAs and doctors opined that EDSS was useful and easy to use. Medical camps organized in villages to increase access to the doctor were received positively by all. However, some aspects or facilitators of the intervention need to be improved, including network connectivity, booster training, anti-stigma campaigns, quality of mental health services provided by doctors, provision of psychotropic medications at primary health centers and frequency of health camps.ConclusionThe respondents’ views helped to understand the barriers and facilitators for improving the likely effectiveness of the intervention using Andersen’s Modified Behavioral Model of Health Services Use, and identify the mechanisms by which those factors affected mental health services uptake in the community.Trial registrationThe study is registered with Clinical Trials Registry India (Applied - 16/07/14-Ref2014/07/007256; registration received - 04/10/17-CTRI/2017/10/009992).

60. The role of neurophysiology in the diagnosis of incorrect foot support in childhood: Who hides a neurological disease?

The “orthopedic alteration” of foot in the child may underlie neurological disorders that may be underestimated. The aim of this study is to demonstrate the important role of neurophysiological tests for the identification of the source on the pathological foot support incorrect in children. We studied 71 subjects (33 females) with incorrect foot support with a defined neurophysiological protocol that includes the ENG (at least 3 nerves), EMG and Muscular Ultrasound (at least two muscles) studies; Motor Evoked Potentials (from Tibialis Anterior muscles) and Somatosensory Evoked Potentials (from Tibialis posterior nerves). Of the 71 patients 31 subjects showed equinus foot, 16 prone foot, 13 pes cavus, 4 spurious valgus, 3 clubfoot, 21 had not specific incorrect support. Neurophysiological tests have identified a neurological cause in about a third of patients (35%). Of this 35%: 48% had a hereditary neuropathy, 28% mono-multi-neuropathy, 8% myopathy, 8% cerebral palsy, 8% being defined. An appropriate neurophysiological protocol, largely executable by technical trained staff, allows the identification of neuro-muscular disorders underlying the incorrect foot support in children. This recognition enables a targeted treatment for these specific changes, assuming a close collaboration between orthopedic and neurologist.

An exploratory study of identification of psychiatric disorders during pregnancy

An exploratory study of identification of psychiatric disorders during pregnancy

Identification of Genetic Disorders Causing Disruption of Selenoprotein Biosynthesis.

Disorders of selenoprotein biosynthesis in humans, due to mutations in three genes (SECISBP2, TRU-TCA1-1, and SEPSECS) involved in the selenocysteine insertion pathway, have been described. Patients with SECISBP2 and TRU-TCA1-1 defects manifest a multisystem disorder with a biochemical signature of abnormal thyroid function tests due to the impaired activity of deiodinase selenoenzymes, myopathic features linked to SEPN1 deficiency and phenotypes resulting from increased levels of reactive oxygen species attributable to lack of antioxidant selenoenzymes. In patients harboring SEPSECS mutations, severe, progressive, cerebello-cerebral atrophy (pontocerebellar hypoplasia type 2D) dominates the phenotype and it is not known whether the disorder is associated with thyroid dysfunction.

The clinical diagnosis of Obstructive Sleep Apnea Syndrome (OSAS).

Obstructive Sleep Apnea Syndrome (OSAS) is the most frequent sleep breathing disorder in the general population. To reach a correct diagnosis, the clinical work-up requires the association of comprehensive clinical evaluation (anamnesis, physical examination) and nocturnal polysomnography. Polysomnographic recordings may differ by number of bio-parameters recorded and setting (in laboratory or at home), and allow the identification of other sleep disorders in addition to the diagnosis of OSAS. Excessive daytime sleepiness (EDS) is the most frequent daytime complaint of OSAS patients. Its evaluation is fundamental in subjects with suspected OSAS and concomitant high risk of sleep-related accidents due to work-related factors (e.g. professional drivers). To test EDS, physicians may use subjective (questionnaires) and/or objective (polysomnografic or performance tests) measures. Objective tests are more advisable, but to date they are time consuming and expensive. Objective tests less time-consuming and easily applicable to clinic practice are being evaluated.

Introducing Consumer Health Information to High School Students Enrolled in Cosmetology

ABSTRACTThe case study describes the partnership between the University of Arizona Health Sciences Library and the Joint Technical Education District’s (JTED) Cosmetology high school program to integrate consumer health information into the curriculum. The information literacy component of the curriculum was created by a librarian; it focuses on research methodology and introduces students to consumer health databases and resources. Because early in the course students are introduced to infection control and identification of different diseases and disorders of the skin, introducing them to consumer health information resources helps them identify and learn more about different skin disorders and diseases. Students and teachers both expressed higher confidence levels in research abilities and quality of work produced after attending the program. The instructional program can easily be adapted to other high school career fields.