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  1. Iodine deficiency disorders (IDD control in India

    Directory of Open Access Journals (Sweden)

    Chandrakant S Pandav

    2013-01-01

    Full Text Available Iodine deficiency disorders (IDD constitute the single largest cause of preventable brain damage worldwide. Majority of consequences of IDD are invisible and irreversible but at the same time these are preventable. In India, the entire population is prone to IDD due to deficiency of iodine in the soil of the subcontinent and consequently the food derived from it. To combat the risk of IDD, salt is fortified with iodine. However, an estimated 350 million people do not consume adequately iodized salt and, therefore, are at risk for IDD. Of the 325 districts surveyed in India so far, 263 are IDD-endemic. The current household level iodized salt coverage in India is 91 per cent with 71 per cent households consuming adequately iodized salt. The IDD control goal in India was to reduce the prevalence of IDD below 10 per cent in the entire country by 2012. What is required is a "mission approach" with greater coordination amongst all stakeholders of IDD control efforts in India. Mainstreaming of IDD control in policy making, devising State specific action plans to control IDD, strict implementation of Food Safety and Standards (FSS Act, 2006, addressing inequities in iodized salt coverage (rural-urban, socio-economic, providing iodized salt in Public Distribution System, strengthening monitoring and evaluation of IDD programme and ensuring sustainability of IDD control activities are essential to achieve sustainable elimination of IDD in India.

  2. Iodine deficiency disorders (IDD) control in India

    Science.gov (United States)

    Pandav, Chandrakant S.; Yadav, Kapil; Srivastava, Rahul; Pandav, Rijuta; Karmarkar, M.G.

    2013-01-01

    Iodine deficiency disorders (IDD) constitute the single largest cause of preventable brain damage worldwide. Majority of consequences of IDD are invisible and irreversible but at the same time these are preventable. In India, the entire population is prone to IDD due to deficiency of iodine in the soil of the subcontinent and consequently the food derived from it. To combat the risk of IDD, salt is fortified with iodine. However, an estimated 350 million people do not consume adequately iodized salt and, therefore, are at risk for IDD. Of the 325 districts surveyed in India so far, 263 are IDD-endemic. The current household level iodized salt coverage in India is 91 per cent with 71 per cent households consuming adequately iodized salt. The IDD control goal in India was to reduce the prevalence of IDD below 10 per cent in the entire country by 2012. What is required is a “mission approach” with greater coordination amongst all stakeholders of IDD control efforts in India. Mainstreaming of IDD control in policy making, devising State specific action plans to control IDD, strict implementation of Food Safety and Standards (FSS) Act, 2006, addressing inequities in iodized salt coverage (rural-urban, socio-economic), providing iodized salt in Public Distribution System, strengthening monitoring and evaluation of IDD programme and ensuring sustainability of IDD control activities are essential to achieve sustainable elimination of IDD in India. PMID:24135192

  3. Environmental controls on iodine deficiency disorders (IDD)

    OpenAIRE

    Johnson, C C; Fordyce, F.M.

    2003-01-01

    It is estimated that in excess of one billion people world-wide are at risk from iodine deficiency disorders (IDD), the most obvious manifestation of which is goitre (see Fordyce, 2000). Iodine deficiency is the world’s most common cause of mental retardation and brain damage, and the negative effects of impaired mental function have a significant impact on the social and economic development of communities. Although IDD can be caused by a number of factors, goitrogens fo...

  4. Iodine Deficiency Disorders (IDD) in Burie and Womberma Districts ...

    African Journals Online (AJOL)

    Recent findings show that both endemic and non-endemic areas have high goiter ... iodine level and concentration of iodized salt is dietary iodine deficiency. ... on adverse effects of IDD and benefits of iodine nutrition is highly recommended.

  5. The goitre rate, its association with reproductive failure, and the knowledge of iodine deficiency disorders (IDD among women in Ethiopia: Cross-section community based study

    Directory of Open Access Journals (Sweden)

    Berhane Yemane

    2007-11-01

    Full Text Available Abstract Background Iodine deficiency is severe public health problem in Ethiopia. Although urinary iodine excretion level (UIE is a better indicator for IDD the goitre rate is commonly used to mark the public health significance. The range of ill effect of IDD is however beyond goitre in Ethiopia. In this study the prevalence of goitre and its association with reproductive failure, and the knowledge of women on Iodine Deficiency were investigated. Methods A cross-section community based study was conducted during February to May 2005 in 10998 women in child bearing age of 15 to 49 years. To assess the state of iodine deficiency in Ethiopia, a multistage "Proportional to Population Size" (PPS sampling methods was used, and WHO/UNICEF/ICCIDD recommended method for goitre classification. Results Total goitre prevalence (weighted was 35.8% (95% CI 34.5–37.1, 24.3% palpable and 11.5% visible goitre. This demonstrates that more than 6 million women were affected by goitre. Goitre prevalence in four regional states namely Southern Nation Nationalities and People (SNNP, Oromia, Bebshandul-Gumuz and Tigray was greater than 30%, an indication of severe iodine deficiency. In the rest of the regions except Gambella, the IDD situation was mild to moderate. According to WHO/UNICEF/ICCIDD this is a lucid indication that IDD is a major public health problem in Ethiopia. Women with goitre experience more pregnancy failure (X2 = 16.5, p 2 = 67.52; p Conclusion Ethiopia is at risk of iodine deficiency disorders. The findings presented in this report emphasis on a sustainable iodine intervention program targeted at population particularly reproductive age women. Nutrition education along with Universal Salt Iodization program and iodized oil capsule distribution in some peripheries where iodine deficiency is severe is urgently required.

  6. Evolution of iodine deficiency disorders control program in India: A journey of 5,000 years

    OpenAIRE

    Chandrakant S Pandav

    2013-01-01

    Iodine deficiency disorders (IDD) has been documented since around 5,000 years. However, geological factors like frequent glaciations, flooding, and changing of course of rivers has led to iodine deficiency in soil. As a result everyone remains at risk of IDD, if optimum intake of iodine is not sustained. Evolution of the IDD control program in India has been a dynamic process. The model of IDD control program in India provides important lessons for successful implementation of a national hea...

  7. Substance-related and addictive disorders among adults with intellectual and developmental disabilities (IDD): an Ontario population cohort study

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    Lin, Elizabeth; Balogh, Robert; McGarry, Caitlin; Selick, Avra; Dobranowski, Kristin; Wilton, Andrew S; Lunsky, Yona

    2016-01-01

    Objectives Describe the prevalence of substance-related and addictive disorders (SRAD) in adults with intellectual and developmental disabilities (IDD) and compare the sociodemographic and clinical characteristics of adults with IDD and SRAD to those with IDD or SRAD only. Design Population-based cohort study (the Health Care Access Research and Development Disabilities (H-CARDD) cohort). Setting All legal residents of Ontario, Canada. Participants 66 484 adults, aged 18–64, with IDD identified through linked provincial health and disability income benefits administrative data from fiscal year 2009. 96 589 adults, aged 18–64, with SRAD but without IDD drawn from the provincial health administrative data. Main outcome measures Sociodemographic (age group, sex, neighbourhood income quintile, rurality) and clinical (psychiatric and chronic disease diagnoses, morbidity) characteristics. Results The prevalence of SRAD among adults with IDD was 6.4%, considerably higher than many previous reports and also higher than found for adults without IDD in Ontario (3.5%). Among those with both IDD and SRAD, the rate of psychiatric comorbidity was 78.8%, and the proportion with high or very high overall morbidity was 59.5%. The most common psychiatric comorbidities were anxiety disorders (67.6%), followed by affective (44.6%), psychotic (35.8%) and personality disorders (23.5%). These adults also tended to be younger and more likely to live in the poorest neighbourhoods compared with adults with IDD but no SRAD and adults with SRAD but no IDD. Conclusions SRAD is a significant concern for adults with IDD. It is associated with high rates of psychiatric and other comorbidities, indicating that care coordination and system navigation may be important concerns. Attention should be paid to increasing the recognition of SRAD among individuals with IDD by both healthcare and social service providers and to improving staff skills in successfully engaging those with both IDD and

  8. Successful efforts toward elimination iodine deficiency disorders in India

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    Kapil Umesh

    2010-01-01

    Full Text Available Iodine deficiency (ID is the world′s single most important preventable cause of brain damage and mental retardation. Iodine deficiency disorders (IDDs is a public health problem in 130 countries, affecting 13% of the world population. The simplest solution to prevent the IDD is to consume iodized common salt every day. In India, significant progress has been achieved toward elimination of IDD, in the last 30 years. Satisfactory levels of urinary iodine excretion and iodine content of salt have been documented by the research surveys conducted by research scientists. The results indicate that we are progressing toward elimination of IDD. IDD is due to a nutritional deficiency, which is prima-rily that of iodine, in soil and water. IDD is known to re-appear if the IDD Control Program is not sustained. To ensure that the population continues to have intake of adequate amount of iodine, there is a need of i periodic surveys to assess the magnitude of the IDD with respect to impact of iodized salt (IS intervention; ii strengthening the health and nutrition education activities to create demand for IS and iii development of a monitoring information system (MIS for ensuring that the adequately IS is available to the beneficiaries.

  9. Ensuring effective prevention of iodine-deficiency disorders

    DEFF Research Database (Denmark)

    Völzke, Henry; Caron, Philippe Jean; Dahl, Lisbeth;

    2016-01-01

    BACKGROUND: Programs initiated to prevent iodine deficiency disorders (IDD) may not remain effective due to changes in government policies, commercial factors, and human behavior that may affect the efficacy of IDD prevention programs in unpredictable directions. Monitoring and outcome studies...... by the lack of centralized standardization procedures. In addition, data on outcomes and the cost of achieving them are needed in order to provide evidence of the beneficial effects of IDD prevention in countries with mild iodine deficiency. CONCLUSION: Monitoring studies can be optimized by including...... are needed to optimize the effectiveness of IDD prevention. SUMMARY: Although the need for monitoring is compelling, the current reality in Europe is less than optimal. Regular and systematic monitoring surveys have only been established in a few countries, and comparability across the studies is hampered...

  10. Role of medical resource level in iodine deficiency disorder.

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    Xu, Chen; Liang, Zhen; Luo, Yong-Jun

    2017-01-01

    Iodine deficiency disorders (IDDs) refer to a series of diseases caused by the human body's insufficient iodine intake. Edible salt became iodized in China in 1996, which yielded remarkable results. We have known that IDDs is associated with iodine in the human body, but it is not clear whether IDDs is related to medical resource level. We collected the number of IDDs cases and an index for the level of medical resource from 31 provinces, autonomous regions and municipalities directly under the central government in China. All data came from the China Statistical Yearbook of Health and Family Planning issued in 2013 by the Peking Union Medical College Publishing House. Data standardization and linear regression analysis were used. The results showed that IDDs correlated with the number of beds in medical and health institutions, number of medical health personnel, number of medical and health institutions, total health expenditure, average health expenditure per capita, medical insurance for urban resident and new rural cooperative medical rural residents (P medical and health institutions and government health expenditure for these institutions. Based on the experimental data, we concluded that IDDs had a positive connection with the medical resource level, and basic and rural areas had a more significant association with IDDs. This analysis provides new and explicit ideas for iodine prevention and control work in China.

  11. The challenge of the global elimination of iodine deficiency disorders.

    NARCIS (Netherlands)

    Haar, van der F.

    1997-01-01

    Most nations of the world are well positioned for success in their pursuit of the virtual elimination of iodine deficiency disorders (IDD) by the year 2000. In 1990 at the World Summit for Children, Heads of State and Government had agreed on this global goal and in 1992 at the International Confere

  12. Evolution of iodine deficiency disorders control program in India: a journey of 5,000 years.

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    Pandav, Chandrakant S

    2013-01-01

    Iodine deficiency disorders (IDD) has been documented since around 5,000 years. However, geological factors like frequent glaciations, flooding, and changing of course of rivers has led to iodine deficiency in soil. As a result everyone remains at risk of IDD, if optimum intake of iodine is not sustained. Evolution of the IDD control program in India has been a dynamic process. The model of IDD control program in India provides important lessons for successful implementation of a national health program. In formulating National Health Programs; policy environment, scientific inputs, political will, and institutional structure for decision making are necessary but not sufficient. Continuous and dynamic generation of reliable and representative state and national level data, proactive recognition of values of key stakeholders and addressing them through sustained advocacy, development of partnerships among stakeholders, institutional continuity, and mentorship are critical for achieving sustainability of results.

  13. Iodine deficiency disorders in the iodine-replete environment.

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    Nyenwe, Ebenezer A; Dagogo-Jack, Samuel

    2009-01-01

    Iodine deficiency disorders (IDD) constitute significant public health problems in parts of the world with poor iodine nutrition, but have been eradicated in North America and other regions. We herein report 3 cases of IDD, which occurred in women living in iodine-replete environments. The clinical presentation, biochemical findings, and radiological features of the patients were analyzed and presented in 3 case reports. The radiological features are illustrated in sonographic and scintigraphic images. A literature review and discussion, which highlight the risk factors, pathogenesis, ancillary investigations, and rational treatment of iodine deficiency goiter and hypothyroidism are provided. All 3 patients were young women, aged 24 to 38 years, who had goiter. Two of them presented with goitrous hypothyroidism. Radioactive iodine scintigraphy showed a characteristic finding of diffusely increased uptake (in the absence of clinical and biochemical evidence of hyperthyroidism). This scintigraphic pattern was found to be pathognomonic. Dietary iodine supplementation alone resulted in complete remission of IDD in the subjects, including the 2 patients with hypothyroidism. IDD can occur in iodine-replete environments. A high index of suspicion is needed to recognize these cases. It is pertinent that the correct diagnosis be made to avoid unwarranted life-long thyroxine therapy in patients presenting with goiter and hypothyroidism, which is easily treatable with iodized salt. These cases underscore the need for considering iodine deficiency in the etiologic diagnosis of goiter and hypothyroidism, even in iodine-sufficient regions.

  14. Iodine requirements and the risks and benefits of correcting iodine deficiency in populations

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    Zimmermann, M.B.

    2008-01-01

    Iodine deficiency has multiple adverse effects on growth and development due to inadequate thyroid hormone production that are termed the iodine deficiency disorders (IDD). IDD remains the most common cause of preventable mental impairment worldwide. IDD assessment methods include urinary iodine con

  15. Prevalence of iodine deficiency disorders among school children of Delhi.

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    Pandav, C S; Mallik, A; Anand, K; Pandav, S; Karmarkar, M G

    1997-01-01

    Iodine deficiency disorders (IDDs) are an important cause of mental handicap and poor educability of children. Though Delhi does not lie in the classical Himalayan goitre belt, it has been shown that IDD was endemic in Delhi. Studies of school children in Delhi reported a total goitre rate of 55% which indicates severe endemicity. The sale of uniodized salt has been banned in Delhi since July 1989. This study was done five years later to assess the impact of this measure on IDD prevalence in Delhi. A cross-sectional study was done among class VI students studying in government schools of Delhi. A complete list of government middle schools in Delhi was obtained and 30 were selected on the basis of 'probability proportion to size'. A sample size of 1200 was decided based on an expected prevalence of 50% with 5% error and design effect of three. All children in class VI of each school were clinically examined by a trained doctor for the presence of goitre and casual urine samples were collected in capped plastic tubes. The urinary iodine estimation was done by the wet ashing method. The total goitre rate was 20.5%. If the results were limited to children in the age group of 10-12 years it was 19.7%. The urinary iodine was less than the recommended 100 micrograms/L of urine in 23.6% of the children; 7.6% had no iodine in the urine. It is possible that some children could have substituted water in place of urine. The median urinary iodine level was 198 micrograms/L of urine. The study showed that IDD continues to be prevalent in mild endemic proportions. Compared to the results of previous surveys, the IDD rates have declined in the last few years. However, it continues to be an important public health problem in Delhi. It is essential to monitor the iodine content of salt on a regular basis. IDD control activities should be strengthened in Delhi and repeat surveys should be done every 3-5 years to monitor the progress achieved in eliminating IDD.

  16. Iodine Deficiency

    Science.gov (United States)

    ... 2017 By ATA | Featured , Iodine Deficiency , News Releases , Potassium Iodide (KI) | No Comments IDD NEWSLETTER – February 2017 VOLUME ... 2016 By ATA | Featured , Iodine Deficiency , News Releases , Potassium Iodide (KI) | No Comments IDD NEWSLETTER – November 2015 (PDF ...

  17. Nutrition, evolution and thyroid hormone levels - a link to iodine deficiency disorders?

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    Kopp, Wolfgang

    2004-01-01

    An increased iodine requirement as a result of significant changes in human nutrition rather than a decreased environmental iodine supply is suggested to represent the main cause of the iodine deficiency disorders (IDD). The pathomechanism proposed is based on the fact that serum concentrations of thyroid hormones, especially of trijodothyronine (T3), are dependent on the amount of dietary carbohydrate. High-carbohydrate diets are associated with significantly higher serum T3 concentrations, compared with very low-carbohydrate diets. While our Paleolithic ancestors subsisted on a very low carbohydrate/high protein diet, the agricultural revolution about 10,000 years ago brought about a significant increase in dietary carbohydrate. These nutritional changes have increased T3 levels significantly. Higher T3 levels are associated with an enhanced T3 production and an increased iodine requirement. The higher iodine requirement exceeds the availability of iodine from environmental sources in many regions of the world, resulting in the development of IDD.

  18. Iodine-deficiency disorders

    NARCIS (Netherlands)

    Zimmermann, M.B.; Jooste, P.L.; Pandav, C.S.

    2008-01-01

    billion individuals worldwide have insufficient iodine intake, with those in south Asia and sub-Saharan Africa particularly affected. Iodine deficiency has many adverse effects on growth and development. These effects are due to inadequate production of thyroid hormone and are termed iodine-deficien

  19. Iodine-deficiency disorders

    NARCIS (Netherlands)

    Zimmermann, M.B.; Jooste, P.L.; Pandav, C.S.

    2008-01-01

    billion individuals worldwide have insufficient iodine intake, with those in south Asia and sub-Saharan Africa particularly affected. Iodine deficiency has many adverse effects on growth and development. These effects are due to inadequate production of thyroid hormone and are termed iodine-deficien

  20. An update on serine deficiency disorders

    NARCIS (Netherlands)

    van der Crabben, S. N.; Verhoeven-Duif, N. M.; Brilstra, E. H.; Van Maldergem, L.; Coskun, T.; Rubio-Gozalbo, E.; Berger, R.; de Koning, T. J.

    Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine biosynthesis pathway. Serine deficiency disorders give rise to a neurological phenotype with psychomotor retardation, microcephaly and seizures in newborns and children or progressive

  1. The story of iodine deficiency: An international challenge in nutrition

    Energy Technology Data Exchange (ETDEWEB)

    Hetzel, B.S.

    1989-01-01

    Iodine deficiency is a risk factor for the growth and development of up to 800 million people living in iodine deficient environments throughout the world. The effects on growth and development, called the iodine deficiency disorders (IDD), comprise goiter, stillbirths and miscarriages, neonatal and juvenile thyroid deficiency, dwarfism, mental defects, deaf mutism, and spastic weakness and paralysis, as well as lesser degrees of loss of physical and mental function. All these effects are due to inadequate thyroid hormone production because iodine is an essential constituent of the thyroid hormone. In the West, IDD has been largely eliminated by the addition of iodine to the diet through iodized salt or through changes in food distribution and technology. IDD still persists in certain areas of Europe where these dietary changes have not occurred. In the Third World, IDD is a major problem in many countries with large populations, such as China, India, Indonesia, Nigeria, and Zaire. In these and other Third World countries, IDD is a significant barrier to social and economic progress which can be removed by correction of the deficiency. This book shows that elimination of iodine deficiency is feasible within the next decade, only requiring a modest financial and technical effort from the West. Part 1 reviews IDD in man and animals. Part 2 discusses the control of iodine deficiency disorders through iodine supplementation, and considers action at the national and international level. Part 3 presents a global review of the status of IDD control. There is a brief conclusion on the way forward to successful control programs.

  2. Dietary iodine deficiency in the Gippsland region of Victoria, Australia

    OpenAIRE

    Rahman, Mohammad Ashequr

    2017-01-01

    Background Iodine is an essential micronutrient for the production of thyroid hormones and normal neurodevelopment. A deficiency in iodine causes a number of defects collectively known as Iodine Deficiency Disorder (IDD). Even mild iodine deficiency in pregnancy is a risk factor for babies as it may result in impaired intellectual development; this is the most serious consequence of mild to moderate dietary iodine deficiency. Australia overall is iodine deficient. However, in the Nationa...

  3. [Iron deficiency and digestive disorders].

    Science.gov (United States)

    Cozon, G J N

    2014-11-01

    Iron deficiency anemia still remains problematic worldwide. Iron deficiency without anemia is often undiagnosed. We reviewed, in this study, symptoms and syndromes associated with iron deficiency with or without anemia: fatigue, cognitive functions, restless legs syndrome, hair loss, and chronic heart failure. Iron is absorbed through the digestive tract. Hepcidin and ferroportin are the main proteins of iron regulation. Pathogenic micro-organisms or intestinal dysbiosis are suspected to influence iron absorption. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  4. Prevalence of iodine deficiency disorders among 6 - 12 years school children of Gulbarga city

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    Raveesh P M

    2014-12-01

    Full Text Available Introduction: Iodine Deficiency Disorders is among the easiest and least expensive of all nutrient disorders to prevent. Salt iodization is currently the most widely used strategy to control and eliminate Iodine Deficiency Disorders. The Central Government has issued the notification banning the sale of non-iodated salt for direct human consumption in the entire country with effect from 17th May, 2006 under the Prevention of Food Adulteration Act 1954.  Rationale: 6 out of 17 districts surveyed in Karnataka were endemic to Iodine deficiency with goiter prevalence rates in the range of 10.67–41.11%. In Gulbarga more than 90% of the families were consuming salt with Iodine content less than 15 ppm.  Objectives: To assess the magnitude of the Iodine Deficiency Disorders among the children. To determine the Iodine content of the salt used at houses of the children and to find out the availability of adequately iodized salt at the retail shops. Materials and Methods: A cross sectional study among 6-12 Years School Children conducted in Gulbarga city. Cluster sampling methodology and surveillance methods for iodine deficiency disorders as recommended by WHO/ICCIDD were used. The study included 1620 school children with equal proportion of girls and boys. The salt samples were tested on spot with MBI kit provided by UNICEF, and Iodine concentration was recorded as 0, <15 and >15 ppm. Results:  The overall prevalence of goitre was 4.32%, there was no significant gender variation in total goitre prevalence. The association between anaemia and the prevalence of total goitre was statistically significant. Proportion of the children consuming adequately iodised salt was 51.1%. Among salt samples collected from retail shops, only 44.62% samples were adequately iodised. Conclusion: prevalence of goitre was 4.32% which is below the cut-off to indicate endemicity of IDD. Adequately iodised salt availability and consumption among household is not

  5. MAKANAN MENTAH, GOITROGENIK DAN GANGGUAN AKIBAT KEKURANGAN YODIUM (GAKY (Raw Food, Goitrogenic and IDD

    Directory of Open Access Journals (Sweden)

    Farida Wahyu Ningtyias

    2015-09-01

    Full Text Available Background: Raw foodism, consumed no processed food is becoming a lifestyle choice in the community, but it should be noted that the availability of nutrients goitrogenic on some commonly vegetables consumed by the people. Thiocyanate, cyanide detoxification substance goitrogenic results with working mechanisms disrupt thyroid function by inhibiting iodine intake and thyroid peroxidase activity interferes with a risk factor Iodine deficiency disorder (IDD. Methods: Samples in the form of common vegetables consumed in endemic goiter area in Jember Region. Cyanide content analysis with spectofotometri method performed on the greens with some food processing. Results:Cyanide content on vegetables from Jember Region was around 0,01–0,40 ppm, the highest was in cassava and the lowest in cabbage and “gambas”. After some processing methods practiced by society, cyanide levels in food stuffs become 0,18-0,0001 ppm. Conclusion:Blanching is the best way to reduce cyanide than the usual way. Recommendation:the adherents of raw food is expected to be more selective in choosing the type of vegetables to be consumed so that the purpose of the requirement for the body of nutrients and enzymes does not bring the other nutritional problems such as IDD.

  6. Assessment of IDD problem by estimation of urinary iodine among school children.

    Science.gov (United States)

    Joshi, Anand Ballabh; Banjara, Megha Raj; Bhatta, Lok Ranjan; Rikimaru, Toru; Jimba, Masamine

    2006-06-01

    Iodine deficiency disorder (IDD) is a major micronutrient deficiency problem in Nepal. Urinary iodine estimation has been the gold standard employed for the assessment of iodine status and of IDD. This study was conducted with objective to assess the urinary iodine among the school children of Kavre, Lalitpur and Parsa districts. Attempts were made to relate urinary iodine with salt use and other sociodemographic variables. Altogether 190 urine samples (74 samples from Kavre, 89 from Parsa and 27 from Lalitpur district) were collected from school children aged 5-13 years. The urinary iodine was analyzed by using urinary iodine assay kit (Bioclone Australia Pvt Limited). It was found that 3.2% children had urine iodine concentration below 20 microg/l. Similarly, the percentage of children with urine iodine concentration 21-50 microg/l, 51-99 microg/l, 100-299 microg/l and above 300 microg/l were 14.2%, 10.5%, 43.7% and 28.4% respectively. Iodine deficient population of school children was 39.2% of Kavre, 19.1% of Parsa and 25.9% of Lalitpur. Overall, it was found that 27.9% children had urine iodine level less than the normal WHO levels. The median urine iodine level was 139.0 microg/l of Kavre, 266.7 microg/l of Parsa and 244.4 microg/l of Lalitpur school children. Urinary iodine excretion (UIE) median value among male students was 211.9 microg/l, among female students was 190.2 microg/l and the difference was statistically insignificant (P > 0.05). There was no significant correlation between consumed salt iodine level and urine iodine excretion level (P > 0.05). Short-term iodine supplementation programs should be arranged for iodine deficient children in the study districts. This study shows that IDD continues to be prevalent in the country as a major public health problem, which requires strengthening effective intervention program and other preventive measures.

  7. Carnitine deficiency disorders in children.

    Science.gov (United States)

    Stanley, Charles A

    2004-11-01

    Mitochondrial oxidation of long-chain fatty acids provides an important source of energy for the heart as well as for skeletal muscle during prolonged aerobic work and for hepatic ketogenesis during long-term fasting. The carnitine shuttle is responsible for transferring long-chain fatty acids across the barrier of the inner mitochondrial membrane to gain access to the enzymes of beta-oxidation. The shuttle consists of three enzymes (carnitine palmitoyltransferase 1, carnitine acylcarnitine translocase, carnitine palmitoyl-transferase 2) and a small, soluble molecule, carnitine, to transport fatty acids as their long-chain fatty acylcarnitine esters. Carnitine is provided in the diet (animal protein) and also synthesized at low rates from trimethyl-lysine residues generated during protein catabolism. Carnitine turnover rates (300-500 micromol/day) are deficiency have been described. There is speculation that carnitine supplements might be beneficial in other settings (such as genetic acyl-CoA oxidation defects--"secondary carnitine deficiency", chronic ischemia, hyperalimentation, nutritional carnitine deficiency), but efficacy has not been documented. The formation of abnormal acylcarnitines has been helpful in expanded newborn screening programs using tandem mass-spectrometry of blood spot acylcarnitine profiles to detect genetic fatty acid oxidation defects in neonates. Carnitine-deficient diets (vegetarian) do not have much effect on carnitine pools in adults. A modest 50% reduction in carnitine levels is associated with hyperalimentation in newborn infants, but is of doubtful significance. The above considerations indicate that carnitine does not become rate-limiting unless extremely low; testing the benefits of nutritional supplements may require invasive endurance studies of fasting ketogenesis or muscle and cardiovascular work.

  8. Thyroid disorders in mild iodine deficiency.

    Science.gov (United States)

    Laurberg, P; Nøhr, S B; Pedersen, K M; Hreidarsson, A B; Andersen, S; Bülow Pedersen, I; Knudsen, N; Perrild, H; Jørgensen, T; Ovesen, L

    2000-11-01

    Comparative epidemiologic studies in areas with low and high iodine intake and controlled studies of iodine supplementation have demonstrated that the major consequence of mild-to-moderate iodine deficiency for the health of the population is an extraordinarily high occurrence of hyperthyroidism in elderly subjects, especially women, with risk of cardiac arrhythmias, osteoporosis, and muscle wasting. The hyperthyroidism is caused by autonomous nodular growth and function of the thyroid gland and it is accompanied by a high frequency of goiter. Pregnant women and small children are not immediately endangered but the consequences of severe iodine deficiency for brain development are grave and a considerable safety margin is advisable. Moreover, a shift toward less malignant types of thyroid cancer and a lower radiation dose to the thyroid in case of nuclear fallout support that mild-to-moderate iodine deficiency should be corrected. However, there is evidence that a high iodine intake may be associated with more autoimmune hypothyroidism, and that Graves' disease may manifest at a younger age and be more difficult to treat. Hence, the iodine intake should be brought to a level at which iodine deficiency disorders are avoided but not higher. Iodine supplementation programs should aim at relatively uniform iodine intake, avoiding deficient or excessive iodine intake in subpopulations. To adopt such a strategy, surveillance programs are needed.

  9. Obsessive compulsive disorder as early manifestation of b12 deficiency

    Directory of Open Access Journals (Sweden)

    Maryam Valizadeh

    2011-01-01

    Full Text Available B12 acts as a cofactor in synthesis of neurotransmitters such as serotonin and dopamine, thus B12 deficiency affects mood, emotions and sleeping and can lead to psychiatric disorders. Psychiatric manifestations of B12 deficiency are varied. They seldom precede anemia. We want to present a case of B12 deficiency which was presented with obsessive compulsive disorder.

  10. Folate deficiency and neurological disorders in adults.

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    Botez, M I

    1976-01-01

    The restless legs syndrome could represent a folate responsive disorder in both patients with acquired-folate deficiency and those with familial symptomatology. Patients with acquired folate-deficiency could be divided into two subgroups. (i) those with minor neurological signs (restless legs syndrome, vibration sense impairment and tactile hypoesthesia in both legs with diminished ankle jerks and a prolonged or assymetrical Achilles-reflex time) and (ii) those with major neurological signs (subacute combined degeneration with or without neuropathies). In some of these patients the classical triad of the malabsorption syndrome is replaced by another triad, constipation, abnormal jejunal biopsy and abnormal d-xylose absorption. A low folic serum acid level could induce minor neuropsychiatric symptoms while an additional low CSF folate could induce major neurological symptoms in spite of the presence of a normal erythrocyte folate level and in the absence of frank anemia. Possible further studies are described.

  11. The arabidopsis IDD14, IDD15, and IDD16 cooperatively regulate lateral organ morphogenesis and gravitropism by promoting auxin biosynthesis and transport.

    Directory of Open Access Journals (Sweden)

    Dayong Cui

    Full Text Available The plant hormone auxin plays a critical role in regulating various aspects of plant growth and development, and the spatial accumulation of auxin within organs, which is primarily attributable to local auxin biosynthesis and polar transport, is largely responsible for lateral organ morphogenesis and the establishment of plant architecture. Here, we show that three Arabidopsis INDETERMINATE DOMAIN (IDD transcription factors, IDD14, IDD15, and IDD16, cooperatively regulate auxin biosynthesis and transport and thus aerial organ morphogenesis and gravitropic responses. Gain-of-function of each IDD gene in Arabidopsis results in small and transversally down-curled leaves, whereas loss-of-function of these IDD genes causes pleiotropic phenotypes in aerial organs and defects in gravitropic responses, including altered leaf shape, flower development, fertility, and plant architecture. Further analyses indicate that these IDD genes regulate spatial auxin accumulation by directly targeting YUCCA5 (YUC5, TRYPTOPHAN AMINOTRANSFERASE of ARABIDOPSIS1 (TAA1, and PIN-FORMED1 (PIN1 to promote auxin biosynthesis and transport. Moreover, mutation or ectopic expression of YUC suppresses the organ morphogenic phenotype and partially restores the gravitropic responses in gain- or loss-of-function idd mutants, respectively. Taken together, our results reveal that a subfamily of IDD transcription factors plays a critical role in the regulation of spatial auxin accumulation, thereby controlling organ morphogenesis and gravitropic responses in plants.

  12. IDD Archival Hardware Architecture and Workflow

    Energy Technology Data Exchange (ETDEWEB)

    Mendonsa, D; Nekoogar, F; Martz, H

    2008-10-09

    This document describes the functionality of every component in the DHS/IDD archival and storage hardware system shown in Fig. 1. The document describes steps by step process of image data being received at LLNL then being processed and made available to authorized personnel and collaborators. Throughout this document references will be made to one of two figures, Fig. 1 describing the elements of the architecture and the Fig. 2 describing the workflow and how the project utilizes the available hardware.

  13. Tracking progress toward elimination of iodine deficiency disorders in Jharkhand, India

    Directory of Open Access Journals (Sweden)

    Patro Binod

    2008-01-01

    Full Text Available Research question: What is the current status of Iodine Deficiency Disorders (IDD in the state of Jharkhand? Objectives: (1 To determine the status of iodine deficiency in the state. (2 To determine the availability and cost of adequately iodized salt at the retail shops. (3 To study the perceptions of the community regarding iodine deficiency, salt and iodized salt. Design: A cross-sectional community-based survey. Study setting: Thirty clusters selected through the probability proportion to size (PPS sampling in the state of Jharkhand. Study participants: Children aged 6-12 years, households, retail shopkeepers and opinion leaders. Study tool: Quantitative and qualitative methodology using a pretested questionnaire and focus group discussion used to carry out the community-based survey. Results: Total goiter rate (TGR was 0.9%. Median urinary iodine level was 173.2 µg/L. The proportion of individuals with urinary iodine levels less than 100 and 50 µg/L were 26.4% and 10%, respectively. Slightly less than two-thirds (64.2% of the households were found to be consuming adequately iodized salt as measured by titration (greater than 15 ppm. Iodized salt was available across the state and the cost varied between Re. 1 and Rs. 8 per kilogram. A common belief among the community was that iodized salt is equivalent to refined packet salt that is further equivalent to expensive salt. Conclusion: The results of the present survey show that the iodine nutrition in the state of Jharkhand is optimal. Considering that the consumption of adequately iodized salt should increase from 64.2% to the goal of more than 90%, sustained efforts are required in this place to consolidate the current coverage of adequately iodized salt and increase it to greater than 90%.

  14. Treatment with amino acids in serine deficiency disorders.

    Science.gov (United States)

    de Koning, T J

    2006-01-01

    Serine deficiency disorders are rare defects in the biosynthesis of the amino acid L-serine. At present two disorders have been reported: 3-phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency. These enzyme defects lead to severe neurological symptoms such as congenital microcephaly and severe psychomotor retardation and in addition in patients with 3-phosphoglycerate dehydrogenase deficiency to intractable seizures. These symptoms respond to a variable degree to treatment with L-serine, sometimes combined with glycine. In this paper the current practice of amino acid treatment with L-serine and glycine in serine deficiency is reviewed.

  15. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.

    Science.gov (United States)

    Stockler-Ipsiroglu, Sylvia; van Karnebeek, Clara D M

    2014-07-01

    Currently there are 91 treatable inborn errors of metabolism that cause intellectual developmental disorders. Cerebral creatine deficiencies (CDD) comprise three of these: arginine: glycine amidinotransferase [AGAT], guanidinoacetate methyltransferase [GAMT], and X-linked creatine transporter deficiency [SLC6A8]. Intellectual developmental disorder and cerebral creatine deficiency are the hallmarks of CDD. Additional clinical features include prominent speech delay, autism, epilepsy, extrapyramidal movement disorders, and signal changes in the globus pallidus. Patients with GAMT deficiency exhibit the most severe clinical spectrum. Myopathy is a distinct feature in AGAT deficiency. Guanidinoacetate (GAA) is the immediate product in the creatine biosynthetic pathway. Low GAA concentrations in urine, plasma, and cerebrospinal fluid are characteristic diagnostic markers for AGAT deficiency, while high GAA concentrations are characteristic markers for GAMT deficiency. An elevated ratio of urinary creatine /creatinine excretion serves as a diagnostic marker in males with SLC6A8 deficiency. Treatment strategies include oral supplementation of high-dose creatine-monohydrate for all three CDD. Guanidinoacetate-reducing strategies (high-dose ornithine, arginine-restricted diet) are additionally employed in GAMT deficiency. Supplementation of substrates for intracerebral creatine synthesis (arginine, glycine) has been used additionally to treat SLC6A8 deficiency. Early recognition and treatment improves outcomes. Normal outcomes in neonatally ascertained siblings from index families with AGAT and GAMT deficiency suggest a potential benefit of newborn screening for these disorders.

  16. Regular direct hepatic arteriography and portovenography via IDDS

    Institute of Scientific and Technical Information of China (English)

    WANGZai-Guo; FENGXie-Lin; ZHANGAi-Ling; WENHua-Chang; DINGFu-Quan; LIGui-Fang; LIUGuang-Zhong; XIAORui-Jun

    2001-01-01

    Aim To study the method and clinical significancehepatic arterial and portal venous angiographyimplantable drug delivery system (IDDS).Methods Intraoperative hepatic artery and poaalcatheterization were performed on 56 patients withneoplasm.viaveinliverCatheters were connected with IDDS implanted inthe skin of abdominal wall, 76% meglueaminediatrzoatewas regularly injected via the IDDS to observe both vesselsand take desired spot films.Resulte Satisfactory mdiologieal manifestitions ofvessels and their branches were obtained, 5 casesintrahepatic cancer ous recurrence that were not discoveredby CT scan were detected, 4 by arteriography,pertovenography.with IDDS, andangiography.Conclusionthe other byNo obvious adverse effect was connectedno obvious complication occurredduringHepatic angiography via IDDS is a useful wayto monitor postoperative cancerous receurrenee in liver,also a new way to study the blood supply of hepatic neoplasmand blood hydrodynamics of peaal vein.

  17. Analysis of iodine deficiency disorders surveillance in Guangzhou city in 2011%2011年广州市碘缺乏病监测结果分析

    Institute of Scientific and Technical Information of China (English)

    于桂兰; 陈继峰; 许聪辉; 胡国媛; 李静; 刘穗星

    2012-01-01

    Objective:To analyse iodine deficiency disorders (IDD) surveillance results in Guangzhou, so as to study IDD popular present situation, evaluate control effect and provide evidence for strategy. Methods; According to the current epidemiological survey methods, 8 ~ 10 years children from 12 districts (counties) of Guangzhou City were randomly investigated. Salt iodine were detected with direct titration method, urinary iodine were detected with spectrophotometry, and the thyroid were detected with B ultrasonic method. Results; Qualified rate of salt iodine in 1188 children's family was 96.1% , and the median of salt iodine was 31.5 mg/kg; the median of 1146 children u-rinary iodine was 198 μg/L; goiter rate of 120 children was 3. 3%. Conclusion; Qualified rate of iodine salt in Guangzhou was higher, urine iodine content was qualified, and children strumous rate was low. Iodized salt was taken salt as the leading comprehensive measure to make IDD prevention and control work have significant effect.%目的:分析广州市碘缺乏病(IDD)监测结果,了解碘缺乏病流行现状,评价防治效果,为制定策略提供依据.方法:采用现况流行病学调查方法,随机抽取广州市十二个区(县)8岁~10岁在校儿童进行调查.分别采用直接滴定法、分光光度法检测盐碘和尿碘含量,B超法检测甲状腺大小.结果:1188名儿童家庭食用盐碘合格率为96.7%,盐碘的中位数为31.5 mg/kg;1146名儿童尿碘的中位数为198 μg/L;120名儿童B超诊断甲状腺肿大率为3.3%.结论:广州市盐碘合格率较高,尿碘含量合格,儿童甲状腺肿大率偏低,通过食盐加碘为主导的综合性措施,使碘缺乏病防治工作取得了显著效果.

  18. Antibiotic prophylaxis in primary immune deficiency disorders.

    Science.gov (United States)

    Kuruvilla, Merin; de la Morena, Maria Teresa

    2013-01-01

    Long-term prophylactic antibiotics are being widely implemented as primary or adjunctive therapy in primary immune deficiencies. This practice has transformed clinical outcomes in the setting of chronic granulomatous disease, complement deficiencies, Mendelian susceptibility to mycobacterial disease, Wiskott-Aldrich syndrome, hyper-IgE syndrome, Toll signaling defects, and prevented Pneumocystis in patients with T-cell deficiencies. Yet, controlled trials are few in the context of primary antibody deficiency syndromes, and most of this practice has been extrapolated from data in patients who are immune competent and with recurrent acute otitis media, chronic rhinosinusitis, cystic fibrosis, and bronchiectasis. The paucity of guidelines on the subject is reflected in recent surveys among practicing immunologists that highlight differences of habit regarding this treatment. Such discrepancies reinforce the lack of standard protocols on the subject. This review will provide evidence for the use of antibiotic prophylaxis in various primary immune deficiency populations, especially highlighting the role antibiotic prophylaxis in primary antibody deficiency syndromes. We also discussed the relationship of long-term antibiotic use and the prevalence of resistant pathogens. Overall, examination of available data on the use of prophylactic antibiotics in antibody deficiency syndromes merit future investigation in well-designed multicenter prospective trials because this population has few other management options.

  19. NUTRITIONAL DEFICIENCY DISORDERS IN PAEDIATRICS: AN AYURVEDIC PERSPECTIVE

    Directory of Open Access Journals (Sweden)

    Tikole Rushikesh V.

    2013-08-01

    Full Text Available Nutrition is major concern for the mankind. Food determines body condition right from the womb to tomb; it is main source of energy. Abnormal nutrition may cause both over and under nutrition hazards. It causes more than half of the nearly 11 million deaths each year among children under age five. Nutritional deficiency disorders are viewed under Apatarpanajanya vyadhis. Ancient Acharyas explained diseases related to nutritional deficiency such as Phakka, Parigarbhika, Bala shosha etc in different samhitas. This paper highlights Ayurvedic perspective of nutritional deficiency related disorders.

  20. Deficient saccadic inhibition in Asperger's disorder and the social-emotional processing disorder

    OpenAIRE

    2004-01-01

    Background: Both Asperger's disorder and the social-emotional processing disorder (SEPD), a form of non-verbal learning disability, are associated with executive function deficits. SEPD has been shown to be associated with deficient saccadic inhibition.

  1. How Do Health Care Providers Diagnose Intellectual & Developmental Disabilities (IDDs)?

    Science.gov (United States)

    ... There are two main types of prenatal tests. Amniocentesis 5 Amniocentesis (pronounced am-nee-oh-sen-TEE-sis ) is ... problems. Some IDDs that can be detected with amniocentesis are Down syndrome and certain types of muscular ...

  2. Eosinophilia associated with disorders of immune deficiency or immune dysregulation

    Science.gov (United States)

    Williams, Kelli W.; Milner, Joshua D.; Freeman, Alexandra F.

    2015-01-01

    Synopsis Elevated serum eosinophil levels have been associated with multiple disorders of immune deficiency or immune dysregulation. Although primary immunodeficiency diseases (PIDD) are rare, it is important to consider these in the differential diagnosis of patients with eosinophilia. This review discusses the clinical features, laboratory findings, diagnosis, and genetic basis of disease of several disorders of immune deficiency or dysregulation – all which have documented eosinophilia as part of the syndrome. The article includes autosomal dominant hyper IgE syndrome, DOCK8 deficiency, PGM3 deficiency, ADA-SCID, Omenn syndrome, Wiskott-Aldrich syndrome, Loeys-Dietz syndrome, autoimmune lymphoproliferative syndrome, immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, Comel-Netherton syndrome, and severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM). PMID:26209898

  3. Fructose-1,6-diphosphatase deficiency: a treatable neurometabolic disorder.

    Science.gov (United States)

    Kamate, Mahesh; Jambagi, Milind; Gowda, Prashanth; Sonoli, Smita

    2014-09-22

    Fructose-1,6-diphosphatase (FDPase) deficiency is usually considered an inborn error of fructose metabolism, however, strictly speaking it is a defect of gluconeogenesis. The disorder is manifested by the appearance of hypoglycaemia, ketosis and lactic acidosis (neonatally or later during fasting or induced by fructose) and may also be life-threatening. FDPase deficiency can be suspected using simple bedside tests such as glucometer random blood sugar, Benedict's test, Rothera's test and Seliwanoff's test. We report our experience with two cases of FDPase deficiency and review the relevant literature. We also describe the fructosuria in these cases during the crises period, which has not been stressed in the literature.

  4. The interictal dysphoric disorder in patients with epilepsy

    DEFF Research Database (Denmark)

    Amiri, Moshgan; Pilebæk Hansen, Christian

    2015-01-01

    PURPOSE: To examine adult epilepsy outpatients for the existence of the interictal dysphoric disorder (IDD) using the interictal dysphoric disorder inventory (IDDI), the overlap between IDD, depression, and anxiety, and the reproducibility of IDDI. METHODS: Epilepsy outpatients were assessed...

  5. 延平区2006~2009年碘缺乏病监测状况分析%A SURVEY ON IODINE DEFICIENCY DISORDERS STATUS IN YANPING COUNTY DURING 2006-2009

    Institute of Scientific and Technical Information of China (English)

    郑秋英

    2011-01-01

    [目的]掌握延平区碘缺乏病状况,为延平区实现消除碘缺乏病提供依据.[方法]按(闽卫疾控[2008]40号)规定进行监测.[结果]延平区8-10岁儿童甲状腺肿大率为0.25%,尿碘中位数197.9 μg/L;居民碘盐合格率97.57%.[结论]各项防治指标已达到消除碘缺乏病目标县级考核标准.%[Objective] To understand the status of iodine deficiency discords in Yanping district, so as to provide the basis for elimination of IDD. [Methods] According to "The implementation details of iodine deficiency disorders in Fujian Province (try out)" [Min Sanitation CDC [2008] 40, conducted the monitoring. [Results] The goitre rate was 0.25% a-mong the children aged 8-10 years. The median of urinary iodine were 197.9 μg/L and 97.57 μg/L, respectively. [Conclusion] All indexes have reached the criteria about elimination of IDD.

  6. Thyroid disorders in mild iodine deficiency

    DEFF Research Database (Denmark)

    Laurberg, P; Nøhr, S B; Pedersen, K M

    2000-01-01

    in elderly subjects, especially women, with risk of cardiac arrhythmias, osteoporosis, and muscle wasting. The hyperthyroidism is caused by autonomous nodular growth and function of the thyroid gland and it is accompanied by a high frequency of goiter. Pregnant women and small children are not immediately......Comparative epidemiologic studies in areas with low and high iodine intake and controlled studies of iodine supplementation have demonstrated that the major consequence of mild-to-moderate iodine deficiency for the health of the population is an extraordinarily high occurrence of hyperthyroidism...

  7. Combating micronutrient deficiency disorders amongst children

    Directory of Open Access Journals (Sweden)

    Umesh Kapil

    2014-11-01

    Full Text Available Micronutrients (MN are the nutrients that are needed by the body in small quantities which play leading roles in the production of enzymes, hormones and other substances that help to regulate growth activity, development and functioning of the immune and reproductive systems. Children, adolescent boys & girls and expectant mothers form a vulnerable group in developing countries where economic stress and food security are issues of concern. MNs deficiencies, which have been considered as major risk factors in child survival are the leading cause of mental retardation, preventable blindness, morbidity, birth defects, morbidity and mortality. Micronutrient malnutrition has many adverse effects on human health, not all of which are clinically evident. Even moderate levels of deficiency (which can be detected by biochemical or clinical measurements can have serious detrimental effects on human function. Thus, in addition to the obvious and direct health effects, the existence of MN deficiency has profound implications for economic development and productivity, particularly in terms of the potentially huge public health costs and the loss of human capital formation.According to WHO mortality data, around 0.8 million deaths (1.5% of the total can be attributed to iron deficiency each year, and a similar number to vitamin A deficiency. In terms of the loss of healthy life, expressed in  disability-adjusted life years (DALYs, iron-deficiency anaemia results in  25 million DALYs lost (or 2.4% of the global total, vitamin A deficiency  in 18 million DALYs lost (or 1.8% of the global total and iodine deficiency  in 2.5 million DALYs lost (or 0.2% of the global total [1].A child belonging to low socio-economic families residing in poor environmental and sanitation settings consume low quantity of foods which deficient not only in 2-3 MNs Deficiencies but also in macronutrients. These children also suffer from recurrent episodes of morbidities which

  8. IDD and mesoscale model integrated system IDD y el sistema integrado del modelo de mesoescala

    Directory of Open Access Journals (Sweden)

    Lia Martins Costa do Amaral

    2011-12-01

    Full Text Available As part of the group of research institutions and universities participating in the UNIDATA program, the Federal University of Pelotas (RS-Brazil has implemented an automatic data acquisition with forecasting and synoptic analysis system. It is based on the data distribution system (IDD of the UNIDATA (University Data Project and uses the Local Data Management module (LDM. This is an integrated system which has been primarily implemented to use the GFS/NCEP global forecasting model data for the processing of the regional MM5 mesoscale model, providing the necessary initial and lateral boundary conditions data. The MM5 has been configured to provide the forecast of the mesoscale systems over the State of Rio Grande do Sul (RS. The use of the data and model integrated system contributes to improve the skill analysis of the model output, aiming to investigate the benefits of its association in the evaluation of the performance of the integrated system.

  9. Neutropenia in Patients with Primary Antibody Deficiency Disorders

    Directory of Open Access Journals (Sweden)

    "Nima Rezaei

    2004-06-01

    Neutropenia may occur in any of the primary immunodeficiency disorders. Persistent or severe infections always pose a supposition, which deserves further evaluation for detecting an underlying immune deficiency syndrome and neutropenia, since a delay in diagnosis may result in a serious organ damage or even death of the patient.

  10. Iron Deficiency in Preschool Children with Autistic Spectrum Disorders

    Science.gov (United States)

    Bilgic, Ayhan; Gurkan, Kagan; Turkoglu, Serhat; Akca, Omer Faruk; Kilic, Birim Gunay; Uslu, Runa

    2010-01-01

    Iron deficiency (ID) causes negative outcomes on psychomotor and behavioral development of infants and young children. Children with autistic spectrum disorders (ASD) are under risk for ID and this condition may increase the severity of psychomotor and behavioral problems, some of which already inherently exist in these children. In the present…

  11. Iron Deficiency in Preschool Children with Autistic Spectrum Disorders

    Science.gov (United States)

    Bilgic, Ayhan; Gurkan, Kagan; Turkoglu, Serhat; Akca, Omer Faruk; Kilic, Birim Gunay; Uslu, Runa

    2010-01-01

    Iron deficiency (ID) causes negative outcomes on psychomotor and behavioral development of infants and young children. Children with autistic spectrum disorders (ASD) are under risk for ID and this condition may increase the severity of psychomotor and behavioral problems, some of which already inherently exist in these children. In the present…

  12. On Potassium Deficiency in Cotton– Disorder, Cause and Tissue Diagnosis

    Directory of Open Access Journals (Sweden)

    Hezhong Dong

    2004-09-01

    Full Text Available As modern cotton varieties including Bt (Bacillus thuringiensis transgenic cotton are adopted and yield per unit area continues to increase, potassium deficiency is occurring with rising frequency in many cotton-growing countries. Symptoms of K deficiencies used to occur at the bottom of the plant on the older or mature leaves, but more recently described symptoms show up on young leaves near the top of the plant. Potassium deficiency induces numerous disorders in cotton, including decreased leaf area index, photosynthesis and plant biomass, but enhances specific leaf weight and earliness of maturity. Low supply and uptake of K, adoption of modern cotton varieties particularly Bt transgenic cotton, and environmental stress are obvious contributors to potassium deficiency. Single leaf photosynthesis (Pn reduction results mainly from decreased stomatal conductance, low chlorophyl content, poor chloroplast ultrastructure, restricted saccharide translocation, and decreased synthesis of RuBP carboxylase under K deficient conditions. Canopy photosynthesis reduction in K-deficient plants is mainly attributed to both inhibited single leaf Pn rate and decreased leaf area index. Potassium concentrations in both blade and petiole of top fully expanded leaves on main stem are good indicators of K deficiency.

  13. [Iodine deficiency in the world and in the Czech Republic--current status and perspectives].

    Science.gov (United States)

    Zamrazil, V; Bílek, R; Cerovská, J; Dvoráková, M; Nemecek, J

    2010-12-01

    Iodopenia is importance world-wide problem--the cause of spectrum of iodine deficiency disorders (IDD). The "simple" way for its compensation is iodine supplementation--preferably by iodinization of salt: in the Czech Republic prevalence of IDD was very high in the past. The complex program for compensation of iodine deficiency realized in the CR includes improvement of salt iodization, supplementation of pregnant and lactating women, fortification of products for babies' nutrition and increasing use of iodinized salt in general population incl. food industry. Thus CR is country with compensated iodine deficiency according to criteria WHO, UNICEF, ICCIDD. In future, however, systematic interest should be focused on optimalization of iodine saturation, esp. in pregnant women and evaluation of possible risk of supranormal iodine intake (impairment of thyroid function, activation of thyroid autoimmunity). Taking in account, the changes of nutrition and life style systematic monitoring of quality of iodine supplementation seems to be essential.

  14. Complex I deficiencies in neurological disorders.

    Science.gov (United States)

    Papa, Sergio; De Rasmo, Domenico

    2013-01-01

    Complex I is the point of entry in the mitochondrial electron transport chain for NADH reducing equivalents, and it behaves as a regulatable pacemaker of respiratory ATP production in human cells. Defects in complex I are associated with several human neurological disorders, including primary mitochondrial diseases, Parkinson disease (PD), and Down syndrome, and understanding the activity and regulation of complex I may reveal aspects of the underlying pathogenic mechanisms. Complex I is regulated by cyclic AMP (cAMP) and the protein kinase A (PKA) signal transduction pathway, and elucidating the role of the cAMP/PKA system in regulating complex I and oxygen free radical production provides new perspectives for devising therapeutic strategies for neurological diseases.

  15. What Are Intellectual and Developmental Disabilities (IDDs)?

    Science.gov (United States)

    ... with the nervous system. Sensory system These disorders affect the senses (sight, hearing, touch, taste, and smell) or how the brain processes or interprets information from the senses. Preterm infants and infants exposed to ... These disorders affect how the body uses food and other materials ...

  16. Neonatal APGAR Score in the Prevention of Iodine Deficiency Disorder%新生儿APGAR评分在碘缺乏病防治中的应用

    Institute of Scientific and Technical Information of China (English)

    程丽梅; 杨小静; 谷霞; 齐小雪; 叶红; 罗琳; 刘佩; 李津蜀

    2013-01-01

    Objective To explore the effect of newborn APGAR score method in prevention of Iodine Deficiency Disorder (IDD) Methods With of length and breadth research method,100 neonates were measures APGAR score,height and weight every 5 years after the popularization of iodine containing salt,and were compared with the thyroid enlargement rate.Results After 15 years' iodine supplementation,the neonatal APGAR score weight increased respectively 0.08,0.3,0.29 and 99.8 g.The neonatal APGAR score at 5 and 10 minutes among years had statistically significant differences; low APGAR score was not detected; 5 and 10 minutes APGAR scores had considerable relation with swollen.Conclusion The neonatal APGAR score method can be applied to evaluate the effect of the prevention and control effect of IDD,yet further improvement is needed.%目的 探索新生儿APGAR评分法在评价碘缺乏病(IDD)防治效果中的作用.方法 采用纵横结合研究,在实施全民补碘后,每5年对同一所医院随机调查100例新生儿APGAR评分、身高、体重等指标,并与同期儿童甲状腺肿大率相比较.结果 补碘后15年,新生儿APGAR评分和体重分别增加了0.08、0.3、0.29和99.8 9;其中,新生儿5 min、10 minAPGAR评分在年度之间差异具有统计学意义;低APGAR评分未检出;5 min、10 min APGAR评分与甲肿率有较好的相关性.结论 新生儿APGAR评分可用于IDD防治效果评价,但需进一步研究.

  17. Patient with Eating Disorder, Carnitine Deficiency and Dilated Cardiomyopathy.

    Science.gov (United States)

    Fotino, A Domnica; Sherma, A

    2015-01-01

    Dilated cardiomyopathy is characterized by a dilated and poorly functioning left ventricle and can result from several different etiologies including ischemic, infectious, metabolic, toxins, autoimmune processes or nutritional deficiencies. Carnitine deficiency-induced cardiomyopathy (CDIM) is an uncommon cause of dilated cardiomyopathy that can go untreated if not considered. Here, we describe a 30-year-old woman with an eating disorder and recent percutaneous endoscopic gastrotomy (PEG) tube placement for weight loss admitted to the hospital for possible PEG tube infection. Carnitine level was found to be low. Transthoracic echocardiogram (TTE) revealed ejection fraction 15%. Her hospital course was complicated by sepsis from a peripherally inserted central catheter (PICC). She was discharged on a beta-blocker and carnitine supplementation. One month later her cardiac function had normalized. Carnitine deficiency-induced myopathy is an unusual cause of cardiomyopathy and should be considered in adults with decreased oral intake or malabsorption who present with cardiomyopathy.

  18. Zinc deficiency is common in several psychiatric disorders.

    Directory of Open Access Journals (Sweden)

    Ole Grønli

    Full Text Available BACKGROUND: Mounting evidence suggests a link between low zinc levels and depression. There is, however, little knowledge about zinc levels in older persons with other psychiatric diagnoses. Therefore, we explore the zinc status of elderly patients suffering from a wide range of psychiatric disorders. METHODS: Clinical data and blood samples for zinc analyzes were collected from 100 psychogeriatric patients over 64 of age. Psychiatric and cognitive symptoms were assessed using the Montgomery and Aasberg Depression Rating Scale, the Cornell Scale for Depression in Dementia, the Mini-Mental State Examination, the Clockdrawing Test, clinical interviews and a review of medical records. In addition, a diagnostic interview was conducted using the Mini International Neuropsychiatric Interview instrument. The prevalence of zinc deficiency in patients with depression was compared with the prevalence in patients without depression, and the prevalence in a control group of 882 older persons sampled from a population study. RESULTS: There was a significant difference in zinc deficiency prevalence between the control group (14.4% and the patient group (41.0% (χ(2 = 44.81, df = 1, p<0.001. In a logistic model with relevant predictors, zinc deficiency was positively associated with gender and with serum albumin level. The prevalence of zinc deficiency in the patient group was significantly higher in patients without depression (i.e. with other diagnoses than in patients with depression as a main diagnosis or comorbid depression (χ(2 = 4.36, df = 1, p = 0.037. CONCLUSIONS: Zinc deficiency is quite common among psychogeriatric patients and appears to be even more prominent in patients suffering from other psychiatric disorders than depression. LIMITATIONS: This study does not provide a clear answer as to whether the observed differences represent a causal relationship between zinc deficiency and psychiatric symptoms. The blood sample collection time points

  19. Observable essential fatty acid deficiency markers and autism spectrum disorder.

    Science.gov (United States)

    Brown, Christine M; Austin, David W; Busija, Lucy

    2014-07-01

    Autism Spectrum Disorder (ASD) has been associated with essential fatty acid (EFA) deficiencies, with some researchers theorising that dysregulation of phospholipid metabolism may form part of the biological basis for ASD. This pilot study compared observable signs of fatty acid status of 19 children with an ASD diagnosis to 23 of their typically developing siblings. A pregnancy, birth and breastfeeding history was also obtained from their parents, which included a measure of infant intake of fatty acid rich colostrum immediately post-partum. When considered within their family group, those infants not breastfed (with colostrum) within the first hour of life and who had a history of fatty acid deficiency symptoms were more likely to have an ASD diagnosis. Other variables such as formula use, duration of breastfeeding, gestational age and Apgar scores were not associated with group membership. The results of this study are consistent with previous research showing a relationship between fatty acid metabolism, breastfeeding and ASD such that early infant feeding practices and the influence this has on the fatty acid metabolism of the child may be a risk factor for ASD.

  20. Possibilities of Correction for Iron Deficiency and Intestinal Microbiocenosis Disorders in Children

    Directory of Open Access Journals (Sweden)

    L.V. Kvashnina

    2016-11-01

    Full Text Available Iron deficiencies and intestinal microbiocenosis disorders in children are the most urgent problems in pediatrics. The article presents the data of our own researches on the effectiveness of the correction for iron deficiency anemia in children with intestinal microbiocenosis disorders during the combination use of iron supplements and spore-forming probiotic Lactovit Forte.

  1. STUDY ABOUT THE INCIDENCE OF HEARING-SPEAKING DISORDERS IN A POPULATION WITH MENTAL DEFICIENCY

    Directory of Open Access Journals (Sweden)

    Ioana Mihaela Tomulescu

    2003-01-01

    Full Text Available This study is about the incidence of hearing-speaking disorders in a population with mental deficiency. We studied 596 children interned in Neurology and Psychiatry Clinical Hospital of Oradea during the 1999 - 2001 period. In 596 children, 393 presented different types of mental deficiency. The most frequent disorders observed are hearing loss or deafness, deaf-mutism, mutism and speaking retardation. Also, we related an increased frequency in rural area and in group of children with severe mental deficiency.

  2. Iodine deficiency in Europe.

    Science.gov (United States)

    Delange, F

    1995-01-18

    Iodine is a trace element present in the human body in minute amounts (15-20 mg in adults, i.e. 0.0285 x 10(-3)% of body weight). The only confirmed function of iodine is to constitute an essential substrate for the synthesis of thyroid hormones, tetraiodothyronine, thyroxine or T4 and triiodothyronine, T3 (1). In thyroxine, iodine is 60% by weight. Thyroid hormones, in turn, play a decisive role in the metabolism of all cells of the organism (2) and in the process of early growth and development of most organs, especially of the brain (3). Brain development in humans occurs from fetal life up to the third postnatal year (4). Consequently, a deficit in iodine and/or in thyroid hormones occurring during this critical period of life will result not only in the slowing down of the metabolic activities of all the cells of the organism but also in irreversible alterations in the development of the brain. The clinical consequence will be mental retardation (5). When the physiological requirements of iodine are not met in a given population, a series of functional and developmental abnormalities occur (Table 1), including thyroid function abnormalities and, when iodine deficiency is severe, endemic goiter and cretinism, endemic mental retardation, decreased fertility rate, increased perinatal death, and infant mortality. These complications, which constitute an hindrance to the development of the affected population, are grouped under the general heading of Iodine Deficiency Disorders, IDD (6). Broad geographic areas exist in which the population is affected by IDD.(ABSTRACT TRUNCATED AT 250 WORDS)

  3. Analysis on monitoring result of iodine deficiency disorders in Urumqi in 2009%乌鲁木齐市2009年碘缺乏病监测结果分析

    Institute of Scientific and Technical Information of China (English)

    孔海滨; 张强胜; 艾尼瓦尔·库尔班; 赛力汗·色日克塔依; 陈文亮

    2012-01-01

    Objective To master the dynamic change of iodine deficiency disorders (IDD) in Urumqi, evaluate the control effect of iodized salt, and provide scientific basis for formulating control program. Method Monitor the condition of IDD in selected 29 primary schools according to the requirements of National Monitoring Scheme of IDD Prevention and Control and Uygur Autonomous Region Monitoring Scheme of IDD. Results The awareness rate of health knowledge was 88. 94%. 2 350 samples of salt were collected, of which, 2 344 samples were qualified iodized salt, which accounted for 99. 74%. 4 (0. 43% ) students'urine iodine content was between 20u,g/L and 50u,g/L, and 74 (7. 91% ) students'urine iodine content was less than 100μg/L Conclusions The edible rate of qualified iodized salt was 99. 74% , the median of childrens urine iodine level was 264.55μg/L, and die awareness rate of health knowledge was 88. 94%. Seeing from the three indexes, Urumqi had reached the periodic goal of eliminating IDD.%目的 掌握乌鲁木齐市碘缺乏病病情的动态变化,评价食盐加碘防治效果,为今后本市制订防治工作方案提供科学依据.方法 根据《全国碘缺乏病防治监测方案》和《新疆维吾尔自治区IDD监测方案》要求,在本市抽取29所小学校进行碘缺乏病病情监测.结果 健康教育知识问卷调查全市总的知晓率为88.94%,采集居民盐样2 350份,其中合格碘盐2 344份,合格碘盐食用率为99.74%.学生尿碘监测数据20~ 50μg/L的4人,占0.43%,<100μg/L的74人,占7.91%.结论 本次评估调查居民合格碘盐食用率99.74%、儿童尿碘水平中位数264.55 μg/L、健康教育知识问卷知晓率为88.94%,从这3项指标来看乌鲁木齐市已达到了消除碘缺乏病的阶段性目标.

  4. Recollection deficiencies in patients with major depressive disorder.

    Science.gov (United States)

    Drakeford, Justine L; Edelstyn, Nicola M J; Oyebode, Femi; Srivastava, Shrikant; Calthorpe, William R; Mukherjee, Tirthankar

    2010-02-28

    Neuropsychological research suggests that recognition memory (RM) and recall memory are impaired in patients with a major depressive disorder or a dysphoric mood state. This study examines the proposal that abnormalities in recollection (a form of recall) result from a breakdown in frontal strategic memory processes involved in encoding and retrieval, and executive functions linked to reality monitoring, planning, problem-solving, reasoning and decision-making. We investigated two predictions arising from this theory. Firstly, patients diagnosed with a major depressive disorder (MDD) will display a dissociation between (deficient) recollection and (preserved) familiarity. Secondly, if recollection impairments are indicative of a breakdown in prefrontal strategic memory processes which are dependent, at least in part, on executive processes, then an explicit correlational approach predicts that recollection will be positively associated with the severity of executive dysfunction in MDD patients. The remember/know paradigm was used to investigate RM for words and neutral faces in 16 MDD patients and 16 healthy volunteers, matched for age, gender and estimates of premorbid IQ. Measures of executive function included working memory, reasoning and decision-making. Applying the Dual Process Signal Detection interpretation of the remember/know data, the MDD group displayed significant impairments in RM and recollection rates for both verbal and neutral facial memoranda. In contrast, familiarity-aware rates were preserved. There was no evidence of executive dysfunction in the patient group, and little evidence that recollection rates correlated with executive function. Furthermore, a single process signal detection approach suggested that the MDD patients displayed a reduction in sensitivity for RM and remember rates but not know responses. The criteria for detecting studied from unstudied items, and remembering from knowing, were the same in both patient and healthy

  5. Vitamin D deficiency in postmenopausal women with pelvic floor disorders

    Directory of Open Access Journals (Sweden)

    Preethi Raja Navaneethan

    2015-01-01

    Conclusion: Findings suggest association of vitamin D deficiency and PFD in postmenopausal women. In addition, postmenopausal women have a high prevalence of vitamin D deficiency indicating a need to evaluate vitamin D levels in these women.

  6. 健康教育在四川省碘缺乏病防治中的作用%Effect of health education in the prevention and control of iodine deficiency disorders in Sichuan Province

    Institute of Scientific and Technical Information of China (English)

    李津蜀; 张莉莉; 吴芙蓉; 黄惠

    2009-01-01

    Objective To evaluate the effect of health education in the prevention and control of iodine deficiency disorders (IDD) in Sichuan Province. Methods In 2007, a variety of health education interventions of IDD carried out in four countries(district) of Lixian, Anyue, Qingchuan and Ziliujing. One primary school from east, west, south, north and the central in the each county was randomly selected, and 40 students from 3-5 grade in every school and 30 hosewives aged 20-50 year-old near the school were asked to answer a questionnaire on health education and iodine content of table salt was qualitatively detected before intervention and six months after intervention. Results A total of 2839 doctors, government officials and teachers received training, 45 primary schools launched iodized salt identification activities, 240 primary schools offered health education classes, and 156 primary school held essay contests 109 000 short messages on the knowledge of IDD and 791 499 health education materials were sent out and 2106 knowledge lectures were organized. After health education intervention, the students' awareness rate of IDD increased from 26.9%(657/2444) to 90.4%(2201/2435, X~2= 2027.49, P < 0.01), and the rate of iodized salt increasedfrom 96.6% (2360/2444) to 99.8% (2430/2435, X~2=71.13, P < 0.01); the housewives' awareness rate of IDD increased from 59.2%(356/601) to 96.7% (586/606, X~2=247.18, P < 0.01), and the rate of iodized salt increased from 97.3%(585/601) to 99.8%(605/606, X~2= 13.55, P < 0.01). Qualified iodized salt coverage rate raised from 84.5% (508/601) to 96.0% (582/606, X~2= 45.70, P < 0.01). Conclusions It is obviousely effective to carry out health education of IDD among students and housewives to strengthen effectiveness of prevention and control of IDD. Health education is a very important measure for IDD prevention and control.%目的 评价健康教育在四川省碘缺乏病防治中的作用.方法 2007年在四川省理县、安岳、青

  7. Dietary deficiency of cobalamin presented solely as schizoaffective disorder in a lacto-vegetarian adolescent

    Directory of Open Access Journals (Sweden)

    Somashekarappa Dhananjaya

    2015-01-01

    Full Text Available Cobalamin is an important nutrient. It is not synthesized in human body and supplied only in nonvegetarian diet. Its deficiency reported with range of psychiatric disorders. Only four pediatric cases have been reported as psychiatric disorders. Authors report a case of dietary deficiency of cobalamin presenting solely as schizoaffective disorder without hematological/neurological manifestations. Early diagnosis and treatment of cobalamin deficiency is an opportunity to reverse pathophysiology. This case highlights the importance of diet history and serum cobalamin level in atypical psychiatric presentations.

  8. Dietary Deficiency of Cobalamin Presented Solely as Schizoaffective Disorder in a Lacto-Vegetarian Adolescent.

    Science.gov (United States)

    Dhananjaya, Somashekarappa; Manjunatha, Narayana; Manjunatha, Rajashekaaiah; Kumar, Seetharamarao Udaya

    2015-01-01

    Cobalamin is an important nutrient. It is not synthesized in human body and supplied only in nonvegetarian diet. Its deficiency reported with range of psychiatric disorders. Only four pediatric cases have been reported as psychiatric disorders. Authors report a case of dietary deficiency of cobalamin presenting solely as schizoaffective disorder without hematological/neurological manifestations. Early diagnosis and treatment of cobalamin deficiency is an opportunity to reverse pathophysiology. This case highlights the importance of diet history and serum cobalamin level in atypical psychiatric presentations.

  9. Brief Report: Childhood Disintegrative Disorder as a Likely Manifestation of Vitamin B12 Deficiency

    Science.gov (United States)

    Malhotra, Savita; Subodh, B. N.; Parakh, Preeti; Lahariya, Sanjay

    2013-01-01

    Childhood disintegrative disorder is a rare disorder, characterized by regression of acquired skills after a period of normal development. The case of childhood disintegrative disorder presented here was found to have vitamin B12 deficiency and hyperhomocysteinemia on extensive evaluation to find a probable cause for regression. This case…

  10. Brief Report: Childhood Disintegrative Disorder as a Likely Manifestation of Vitamin B12 Deficiency

    Science.gov (United States)

    Malhotra, Savita; Subodh, B. N.; Parakh, Preeti; Lahariya, Sanjay

    2013-01-01

    Childhood disintegrative disorder is a rare disorder, characterized by regression of acquired skills after a period of normal development. The case of childhood disintegrative disorder presented here was found to have vitamin B12 deficiency and hyperhomocysteinemia on extensive evaluation to find a probable cause for regression. This case…

  11. 上海市居民碘缺乏病知识电话调查结果分析%An analysis of a telephone survey on knowledge of iodine deficiency disorders in Shanghai residents

    Institute of Scientific and Technical Information of China (English)

    宓铭; 宋峻; 邹淑蓉

    2013-01-01

    目的 了解上海市城市居民对碘缺乏病防治知识的知晓情况和食盐品种选择情况.方法 2010年,在上海市的18个区(县)各选取2个街道,在选中的街道按照Execl软件的Random函数产生的4位随机数作为电话号码的后4位,选择固定电话的户主,进行碘缺乏病相关问题的电话调查.结果 共计219人完成有效的调查,其中,49.3%(108/219)的居民只选择碘盐,25.6%(56/219)的居民只选择不加碘食盐;6.8%的居民(15/219)选择两种盐混合食用;18.3%(40/219)的居民不在意食盐品种.在108例选择加碘食盐的居民中,知道“食用加碘盐可防治碘缺乏病”的占25.9%(28/108),知道“对孩子智力有好处”的占6.5%(7/108);在56例选择不加碘食用盐的居民中,认为自身“不缺碘”的占35.7% (20/56),认为上海“不是碘缺乏病病区”的占17.9%(10/56).126例居民听说过碘缺乏病,认为碘缺乏病的危害可导致“不同程度的智力损害”和“地方性甲状腺肿大”的分别占7.1%(9/126)和65.1%(82/126),选择“吃碘盐”和“吃海带、紫菜”的分别占45.2%(57/126)和33.3%(42/126).不知道碘缺乏病或其危害的,共占58.0%(127/219).结论 居民掌握碘缺乏病相关知识情况不理想,需要加强居民健康教育以及食盐品种选择的指导.%Objective To find out whether Shanghai residents have mastered the knowledge related to iodine deficiency disorders (IDD),and how they choose different kind of salt.Methods Residents were selected by stratified random sampling from all 18 districts(counties) of Shanghai in 2010.Simple random sampling was used at the first level; random function was used at the second level to produce the last 4 numbers of a phone number.People who own the number were selected to be called.Results Totally 219 people completed the investigation.49.3% (108/219) of the residents only selected iodized salt,and 25.6%(56/219) choose non-iodized salt

  12. Early gestation screening of pregnant women for iodine deficiency disorders and iron deficiency in urban centre in Vadodara, Gujarat, India.

    Science.gov (United States)

    Joshi, K; Nair, S; Khade, C; Rajan, M G R

    2014-02-01

    Pregnancy is a special condition where many metabolic changes may occur because of increased requirement of essential micronutrients such as iron and iodine. Foetal thyroid starts producing its own thyroid hormones after 12 weeks of gestation. Therefore, the first trimester is very crucial for meeting thyroid hormone requirements of the mother and foetus. Iodine deficiency and iron deficiency may affect mental and physical growth of the foetus. Hence, it is very important to establish a programme on the screening of pregnant women for thyroid dysfunction tests along with established iron status assessment. Thus, the study was aimed to screen the pregnant women for iodine deficiency disorders and iron deficiency during early gestation, situational analysis on thyroid insufficiency and iron deficiency in pregnant women (gestational age iron deficiency was 91%. Screening programme for iodine deficiency during early gestation should be implemented along with the existing programme of haemoglobin estimation at first prenatal visit. This would help prevent damage to the developing brain and growth of the foetus and also to trace at-risk pregnant women.

  13. PARALYTIC DISORDERS ASSOCIATED WITH PHOSPHORUS DEFICIENCY IN BUFFALOES

    Directory of Open Access Journals (Sweden)

    G. Habib, G. Jabbar1, M. M. Siddiqui and Z. Shah2

    2004-01-01

    both P supplementation and improvement in nutritive value of range grass hay. Feeding of molasses-urea blocks fortified with deficient minerals is suggested as appropriate strategic supplement for correcting the health disorder in buffaloes of the Buner area.

  14. Attention-deficit-hyperactivity disorder and reward deficiency syndrome

    Directory of Open Access Journals (Sweden)

    Kenneth Blum

    2008-11-01

    form of a gene (DRD2 A1 allele that prevents the expression of the normal laying down of dopamine receptors in brain reward sites. This gene, and others involved in neurophysiological processing of specific neurotransmitters, have been associated with defi cient functions and predispose individuals to have a high risk for addictive, impulsive, and compulsive behavioral propensities. It has been proposed that genetic variants of dopaminergic genes and other “reward genes” are important common determinants of reward deficiency syndrome (RDS, which we hypothesize includes ADHD as a behavioral subtype. We further hypothesize that early diagnosis through genetic polymorphic identification in combination with DNA-based customized nutraceutical administration to young children may attenuate behavioral symptoms associated with ADHD. Moreover, it is concluded that dopamine and serotonin releasers might be useful therapeutic adjuncts for the treatment of other RDS behavioral subtypes, including addictions.Keywords: attention deficit hyperactivity disorder (ADHD, genes, reward dependence, reward deficiency syndrome, treatment, neuropsychological deficits

  15. Low Dimensional Temporal Organization of Spontaneous Eye Blinks in Adults with Developmental Disabilities and Stereotyped Movement Disorder

    Science.gov (United States)

    Lee, Mei-Hua; Bodfish, James W.; Lewis, Mark H.; Newell, Karl M.

    2010-01-01

    This study investigated the mean rate and time-dependent sequential organization of spontaneous eye blinks in adults with intellectual and developmental disability (IDD) and individuals from this group who were additionally categorized with stereotypic movement disorder (IDD + SMD). The mean blink rate was lower in the IDD + SMD group than the IDD…

  16. Ethological approach to autism spectrum disorders.

    Science.gov (United States)

    Pegoraro, Luiz F L; Setz, Eleonore Z F; Dalgalarrondo, Paulo

    2014-03-26

    The purpose of the study was to develop a new ethogram for the assessment of children and adolescents with autism spectrum disorders (ASD) and intellectual developmental disorder (IDD) and to test whether this instrument accurately distinguishes ASD participants (n = 61) from IDD participants (n = 61). An ethogram with 88 behavior elements was generated, including body postures, verbalizations, facial expressions, motor stereotypies, head postures, gaze behavior, gestures, and interpersonal distance. Significant differences were detected between both groups in classic ASD behaviors; in behaviors that are deficient in ASD according to established theoretical models, such as symbolic play, gaze direction, gaze following, and use of mental state language; in atypical behaviors that have also been described previously in ethological studies with ASD; and in the nonspecific behaviors of ASD, such as walk, look own body, explore, and cry. The predictive success of a diagnosis of ASD in the logistic regression model with the ethogram's factors was 98.4%. The results suggest that this ethogram is a powerful and useful tool for both the detailed study of the social behaviors of autistic children and adolescents, and for discriminating ASD and IDD.

  17. Ethological Approach to Autism Spectrum Disorders

    Directory of Open Access Journals (Sweden)

    Luiz F. L. Pegoraro

    2014-01-01

    Full Text Available The purpose of the study was to develop a new ethogram for the assessment of children and adolescents with autism spectrum disorders (ASD and intellectual developmental disorder (IDD and to test whether this instrument accurately distinguishes ASD participants (n = 61 from IDD participants (n = 61. An ethogram with 88 behavior elements was generated, including body postures, verbalizations, facial expressions, motor stereotypies, head postures, gaze behavior, gestures, and interpersonal distance. Significant differences were detected between both groups in classic ASD behaviors; in behaviors that are deficient in ASD according to established theoretical models, such as symbolic play, gaze direction, gaze following, and use of mental state language; in atypical behaviors that have also been described previously in ethological studies with ASD; and in the nonspecific behaviors of ASD, such as walk, look own body, explore, and cry. The predictive success of a diagnosis of ASD in the logistic regression model with the ethogram's factors was 98.4%. The results suggest that this ethogram is a powerful and useful tool for both the detailed study of the social behaviors of autistic children and adolescents, and for discriminating ASD and IDD.

  18. Iodine deficiency and iodine excess in Jiangsu Province, China

    NARCIS (Netherlands)

    Zhao, J.

    2001-01-01

    Keywords:iodine deficiency, iodine excess, endemic goiter, drinking water, iodine intake, thyroid function, thyroid size, iodized salt, iodized oil, IQ, physical development, hearing capacity, epidemiology, meta-analysis, IDD, randomized trial, intervention, USA, Bangladesh, ChinaEndemic goiter can

  19. Iodine deficiency and iodine excess in Jiangsu Province, China

    NARCIS (Netherlands)

    Zhao, J.

    2001-01-01

    Keywords:
    iodine deficiency, iodine excess, endemic goiter, drinking water, iodine intake, thyroid function, thyroid size, iodized salt, iodized oil, IQ, physical development, hearing capacity, epidemiology, meta-analysis, IDD, randomized trial, intervention, USA, Bangladesh, China

  20. Rapid eye movement sleep behaviour disorder in patients with narcolepsy is associated with hypocretin-1 deficiency

    DEFF Research Database (Denmark)

    Knudsen, Stine; Gammeltoft, Steen; Jennum, Poul J

    2010-01-01

    Rapid eye movement sleep behaviour disorder is characterized by dream-enacting behaviour and impaired motor inhibition during rapid eye movement sleep. Rapid eye movement sleep behaviour disorder is commonly associated with neurodegenerative disorders, but also reported in narcolepsy with cataplexy....... Most narcolepsy with cataplexy patients lack the sleep-wake, and rapid eye movement sleep, motor-regulating hypocretin neurons in the lateral hypothalamus. In contrast, rapid eye movement sleep behaviour disorder and hypocretin deficiency are rare in narcolepsy without cataplexy. We hypothesized...... that rapid eye movement sleep behaviour disorder coexists with cataplexy in narcolepsy due to hypocretin deficiency. In our study, rapid eye movement sleep behaviour disorder was diagnosed by the International Classification of Sleep Disorders (2nd edition) criteria in 63 narcolepsy patients with or without...

  1. Analysis of monitoring results of iodine deficiency disorders in Ankang,Shaanxi province in 2012%陕西省安康市2012年碘缺乏病监测结果分析

    Institute of Scientific and Technical Information of China (English)

    邓英; 梁磊; 刘君; 蒋华

    2013-01-01

    目的 了解陕西省安康市碘缺乏病防治现状,为防治碘缺乏病提供科学依据.方法 2012年按照《陕西省碘缺乏病监测方案》,盐样采用直接滴定法测定(GB/T 13025.7-1999).抽查8~10岁学生进行甲状腺检查,诊断标准采用(WS276-2007)进行.10县(区)分农村、城镇两层次进行学龄儿童尿碘测定,采用砷铈催化分光光度法(WS/T107-2006).随机抽取小学5年级学生30名进行健康问卷调查,抽取学校所在地家庭主妇15名进行健康教育问卷调查和家中食用盐半定量检测.结果 共检测居民盐样3 000份.盐碘中位数为29.74 mg/kg,碘盐覆盖率为100.00%(3 000/3000),合格碘盐食用率为96.63%(2 989/3 000).触诊法共调查2 100名儿童甲状腺,甲状腺肿大57人,甲状腺肿大率2.71% (57/2 100).共测定1 200名儿童尿样,尿碘中位数为235.00 μg/L,尿碘范围82.10 ~478.40 μg/L.对360名学生和180名家庭主妇进行了健康教育问卷调查,学生及家庭主妇碘缺乏病防治知识知晓率分别为66.76%(721/1 080)、67.22%(363/540),家中食用盐测定,合格碘盐食用率为100.00%(180/180).结论 安康市已达到消除碘缺乏病目标,在实行新的食用碘盐含量标准后,需要继续加强碘缺乏病监测和健康教育工作,对巩固碘缺乏病防治效果有积极意义.%Objective In order to understand Ankang city,Shaanxi province,iodine deficiency disorders(IDD) prevention and cure,and to provide a scientific basis for the prevention and control of IDD.Methods According to the requirements of IDD monitoring program,the salt samples were detected by titration (GB/T 13025.7-1999).Students aged 8 to 10 were selected to check up their thyroid with WS276-2007.Divided ten counties into rural and urban parts to test urinary iodine of school-age children,using Arsenic-cerium catalytic spectrophotometry (WS/T107-2006).30 students in grade 5 were sampled randomly to carry out healthy questionnaires.15

  2. Impact on infants' cognitive development of antenatal exposure to iron deficiency disorder and common mental disorders.

    Directory of Open Access Journals (Sweden)

    Thach Duc Tran

    Full Text Available OBJECTIVES: The aim of this study was to examine the effects of antenatal exposure to iron deficiency anemia (IDA and common mental disorders (CMD on cognitive development of 6 months old infants in a developing country. METHODS: A prospective population-based study in a rural province in Vietnam, which enrolled pregnant women at 12-20 weeks gestation and followed them up with their infants until six months postpartum. Criteria for IDA were Hb 30 years and primiparity had an indirect adverse effect on infants' Bayley cognitive scores. CONCLUSIONS: These findings suggest that antenatal IDA and CMD both have adverse effects on child cognitive development, which if unrecognized and unaddressed are likely to be lasting. It is crucial that both these risks are considered by policy makers, clinicians, and researchers seeking to improve child cognitive function in developing countries.

  3. Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet

    NARCIS (Netherlands)

    Leen, W.G.; Mewasingh, L.; Verbeek, M.M.; Kamsteeg, E.J.; Warrenburg, B.P.C. van de; Willemsen, M.A.A.P.

    2013-01-01

    BACKGROUND: Movement disorders are a prominent feature of glucose transporter-1 (GLUT1) deficiency syndrome (GLUT1DS). First-choice treatment is a ketogenic diet, but compliance is poor. We have investigated the effect of the modified Atkins diet as an alternative treatment for movement disorders in

  4. Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet

    NARCIS (Netherlands)

    Leen, W.G.; Mewasingh, L.; Verbeek, M.M.; Kamsteeg, E.J.; Warrenburg, B.P.C. van de; Willemsen, M.A.A.P.

    2013-01-01

    BACKGROUND: Movement disorders are a prominent feature of glucose transporter-1 (GLUT1) deficiency syndrome (GLUT1DS). First-choice treatment is a ketogenic diet, but compliance is poor. We have investigated the effect of the modified Atkins diet as an alternative treatment for movement disorders in

  5. Assessment of eliminating iodine deficiency disorders in Luoyang in 2009%2009年洛阳市实现消除碘缺乏病目标评估

    Institute of Scientific and Technical Information of China (English)

    付书霞; 闫幸茹; 康建山; 杨芳丽; 王彩霞; 乔玉朋; 马娟; 耿书生; 苏建侠; 姚巧玲

    2011-01-01

    Objective To assessment of eliminating Iodine Deficiency Disorders(IDD) in each county (city, area) of Luoyang.Methods To investigate overall situation of prevention and treatment of IDD for three years, including 4 management indexes,organizational leadership, control of iodine salt, monitoring and prevention and health education of IDD, and two technical indicators, the consuming rate of qualified iodine salt at household and urinary iodine level in 8 to 10 years old children . On - site investigation in 72 township (offices), 72 elementary school, 2 160 students, 1 441 salt at household, and 1 456 urine iodine in 8 to 10 years old children. Results Grading is 81 to 94 points on management indexes of countries, mean score is 4.2 points on health education questionnaire of the students, qualified iodized salt 1 362, unqualified iodized salt 66, 10 non - iodized salt, the consuming rate of qualified iodine salt 95%, median of urine iodine 262.98 μg/L, the ratio 2.61% of urine iodine less than 50 μg/L. Conclusions After the assessment, it has reached the national standard of eliminating IDD in 15 counties( cities, districts) of Luoyang.%目的 评估洛阳各县(市、区)达到消除碘缺乏病目标情况.方法 系统了解各县近三年的防治工作情况,包括组织领导、碘盐管理、监测与防治、健康教育宣传4方面管理指标和居民合格碘盐食用率和8~10岁儿童尿碘水平两项技术指标.现场考评72个乡(镇、办事处),72所小学,调查学生2160人,监测居民户盐样1441份,监测儿童尿碘1456份.结果 各县(区)管理指标的考评总分81~94分,学生健康教育问卷平均得分4.2分,合格碘盐1362份,不合格碘盐66份,非碘盐13份,合格碘盐食用率95%,尿碘中位数262.98μg/L,尿碘含量低于50μg/L的比例为2.61%.结论 经过评估,洛阳市15个县(市、区)均达到了碘缺乏病消除标准.

  6. Deficiencies

    Data.gov (United States)

    U.S. Department of Health & Human Services — A list of all deficiencies currently listed on Nursing Home Compare, including the nursing home that received the deficiency, the associated inspection date,...

  7. Idd13 is involved in determining immunoregulatory DN T-cell number in NOD mice.

    Science.gov (United States)

    Dugas, V; Liston, A; Hillhouse, E E; Collin, R; Chabot-Roy, G; Pelletier, A-N; Beauchamp, C; Hardy, K; Lesage, S

    2014-03-01

    Immunoregulatory T cells have been identified as key modulators of peripheral tolerance and participate in preventing autoimmune diseases. CD4(-)CD8(-) (double negative, DN) T cells compose one of these immunoregulatory T-cell subsets, where the injection of DN T cells confers protection from autoimmune diabetes progression. Interestingly, genetic loci defining the function and number of CD4(+)CD25(+)Foxp3(+) regulatory T cells (Tregs) coincide with at least some autoimmune disease susceptibility loci. Herein, we investigate the impact of major insulin-dependent diabetes (Idd) loci in defining the number of DN T cells. We demonstrate that although Idd3, Idd5 and Idd9 loci do not regulate DN T-cell number, NOD mice congenic for diabetes resistance alleles at the Idd13 locus show a partial restoration in DN T-cell number. Moreover, competitive and non-competitive bone marrow chimera experiments reveal that DN T-cell number is defined by a bone marrow-intrinsic, but DN T-cell-extrinsic, factor. This suggests that non-autonomous candidate genes define DN T-cell number in secondary lymphoid organs. Together, our results show that the regulation of DN T-cell number in NOD mice is at least partially conferred by alleles at the Idd13 locus.

  8. [The association between iron deficiency and learning disorders in preschoolers].

    Science.gov (United States)

    Gutiérrez Sigler, D; Colomer Revuelta, J; Barona, C; Momparler, P; Colomer Revuelta, C

    1992-01-01

    With the aim preventing future problems of underachievement at school, we studied the possible relationship between learning difficulties and iron deficiency in nursery-school children. To do this, we determined the prevalence of iron deficiency and the prevalence or learning difficulties in the different areas of mental development in a sample of 136 nursery school children coming from the Alaquàs public school (Valencia), aged between four and five years. Their nutritional state and ferric state, socioeconomic and cultural level, and psychomotor development were evaluated. All the children were in a good nutritional state, coming from homogeneous families as regards their socio-cultural level and being divided into two groups as regards their economic situation. The iron deficiency prevalence was 17.6% in stage I (ferritina sérica < 12 ng/l) and 22.8% in stage III (anemia ferropénica). The coefficient for overall development was 85.95, the lowest marks being in the speech area. A positive association (prevalence ratio = 2; IC 95% = 1.1-8.3) between iron deficiency in its III stage and changes in the specific area of analysis and synthesis.

  9. Cobalamin deficiency results in severe metabolic disorder of serine and threonine in rats.

    Science.gov (United States)

    Ebara, S; Toyoshima, S; Matsumura, T; Adachi, S; Takenaka, S; Yamaji, R; Watanabe, F; Miyatake, K; Inui, H; Nakano, Y

    2001-12-05

    Dietary cobalamin (vitamin B12; Cbl) deficiency caused significant increases in plasma serine, threonine, glycine, alanine, tyrosine, lysine and histidine levels in rats. In particular, the serine and threonine levels were over five and eight times, respectively, higher in the Cbl-deficient rats than those in the sufficient controls. In addition, some amino acids, including serine and threonine, were excreted into urine at significantly higher levels in the deficient rats. When Cbl was supplemented into the deficient rats for 2 weeks, in coincidence with the disappearance of the urinary excretion of methylmalonic acid (an index of Cbl deficiency), the plasma serine and threonine levels were normalized. These results indicate that Cbl deficiency results in metabolic disorder of certain amino acids, including serine and threonine. The expression level of hepatic serine dehydratase (SDH), which catalyzes the conversion of serine and threonine to pyruvate and 2-oxobutyrate, respectively, was significantly lowered by Cbl deficiency, even though Cbl does not participate directly in the enzyme reaction. The SDH activity in the deficient rats was less than 20% of that in the sufficient controls, and was normalized 2 weeks after the Cbl supplementation. It is thus suggested that the decrease of the SDH expression relates closely with the abnormalities in the plasma and urinary levels of serine and threonine in the Cbl-deficient rats.

  10. Evaluation on health education of iodine deficiency disorders prevention in Baofeng county%宝丰县碘缺乏病健康教育效果评价

    Institute of Scientific and Technical Information of China (English)

    牛国永; 张功员

    2012-01-01

    目的 对河南省宝丰县碘缺乏病(IDD)健康教育干预前的基线调查和干预措施实施1年的效果评价,评估IDD健康教育措施的效果.方法 采用分层随机化的方法选择干预组和对照组,进行干预前、后的比较分析.结果 干预组小学生IDD防治知识知晓率由干预前的62.56%提高到干预后的95.78%,家庭主妇从61.17%提高到93.17%;碘盐覆盖率从91.00%提高到99.67%;居民户合格碘盐食用率由88.17%提高到97.67%;小学生尿碘值小于50μg/L和小于100μg/L的比例由8.7%和16.8%下降到0和1.8%.小学生甲状腺肿大率由4.83%下降到4.00%.对照组上述指标干预前后比较均无统计学意义.干预后干预组与对照组比较小学生甲状腺肿大率无统计学意义,其它均有统计学意义.结论 健康教育干预可有效提高小学生和家庭主妇的IDD防治知识知晓率.同时使居民户碘盐覆盖率和合格碘盐食用率均明显上升.使小学生尿碘值小于50μg/L和小于100 μg/L的比例明显下降.%Objective Through the basic survey before interference and the evaluation of effect of the interfering measures within one year of health education about Iodine Deficiency Disorders( IDD) in Baofeng county of Henan province, evaluating the effect of health education measures. Methods To choose intervention group and contrast group in the stratified randomization method, to analyze and compare the results before and after intervention. Results After health education, the rate of knowledge on IDD by the baseline survey rising from 62. 56% to 93. 17% in primary school students, from 61. 17% to 93. 17% in the housewives; The coverage rate of iodized salt rising from 91. 00% to 99. 67% ; The intake rate of qualified iodized salt of the residents rising from 88. 17% to 97. 67%; The rate of urinary iodine under 50 μg/L and under 100 μg/L of the primary students were falling down from 8. 7% and 16. 8% to 0% and 1. 8

  11. Rapid eye movement sleep behaviour disorder in patients with narcolepsy is associated with hypocretin-1 deficiency

    DEFF Research Database (Denmark)

    Knudsen, Stine; Gammeltoft, Steen; Jennum, Poul J

    2010-01-01

    variables were analysed in relation to cataplexy and hypocretin deficiency with uni- and multivariate logistic/linear regression models, controlling for possible rapid eye movement sleep behaviour disorder biasing factors (age, gender, disease duration, previous anti-cataplexy medication). Only hypocretin......Rapid eye movement sleep behaviour disorder is characterized by dream-enacting behaviour and impaired motor inhibition during rapid eye movement sleep. Rapid eye movement sleep behaviour disorder is commonly associated with neurodegenerative disorders, but also reported in narcolepsy with cataplexy....... Most narcolepsy with cataplexy patients lack the sleep-wake, and rapid eye movement sleep, motor-regulating hypocretin neurons in the lateral hypothalamus. In contrast, rapid eye movement sleep behaviour disorder and hypocretin deficiency are rare in narcolepsy without cataplexy. We hypothesized...

  12. Light deficiency confers breast cancer risk by endocrine disorders.

    Science.gov (United States)

    Suba, Zsuzsanna

    2012-09-01

    North-America and northern European countries exhibit the highest incidence rate of breast cancer, whereas women in southern regions are relatively protected. Immigrants from low cancer incidence regions to high-incidence areas might exhibit similarly higher or excessive cancer risk as compared with the inhabitants of their adoptive country. Additional cancer risk may be conferred by incongruence between their biological characteristics and foreign environment. Many studies established the racial/ethnic disparities in the risk and nature of female breast cancer in United States between African-American and Caucasian women. Mammary tumors in black women are diagnosed at earlier age, and are associated with higher rate of mortality as compared with cancers of white cases. Results of studies on these ethnic/racial differences in breast cancer incidence suggest that excessive pigmentation of dark skinned women results in a relative light-deficiency. Poor light exposure may explain the deleterious metabolic and hormonal alterations; such as insulin resistance, deficiencies of estrogen, thyroxin and vitamin-D conferring excessive cancer risk. The more northern the location of an adoptive country the higher the cancer risk for dark skinned immigrants. Recognition of the deleterious systemic effects of darkness and excessive melatonin synthesis enables cancer protection treatment for people living in light-deficient environment. Recent patents provide new methods for the prevention of hormonal and metabolic abnormities.

  13. 我国小学生、家庭主妇碘缺乏病健康教育干预效果的Meta分析%The effect of health education intervention on iodine deficiency disorders in Chinese pupils and housewives:a Meta-analysis

    Institute of Scientific and Technical Information of China (English)

    任思思; 董燕; 钟朝晖

    2014-01-01

    目的 综合评价我国小学生、家庭主妇碘缺乏病健康教育干预效果,为在小学生、家庭主妇中进行碘缺乏病预防与干预提供科学依据.方法 计算机检索中国生物医学文献数据库(CBM)、万方数据库、维普数据库(VIP)、中国知网数据库(CNKI)、PubMed,并结合文献追溯的方法,收集1997-2012年在国内外发表的关于中国小学生、家庭主妇碘缺乏病健康教育干预研究的文献.文献研究类型为自身前后对照的干预性研究,干预手段为健康教育.使用RevMan 5.0软件,选择从碘缺乏病预防知识知晓率和对碘缺乏病行为改变情况为指标进行Meta分析.同质性资料(P>0.05)选取固定效应模型,异质性资料(P≤0.05)选取随机效应模型进行综合定量分析.结果 共纳入20篇中文文献,未检索到合适的英文文献.采用EPOC的标准对文献进行质量评价,纳入文献都是B等级.文献的异质性较高,所以对各个知识点分别按照基线率进行分层分析.基线率分层分析得出结果:基线率越低,干预效果越好.干预后,调查对象对“人体缺碘的主要危害”,“预防缺碘最好的方法”,“盐袋上图案的含义”,“购买合格碘盐”,“IDD相关知识传播”分别提高了35%,29%,27%,42%,47%.结论 对小学生和家庭主妇开展健康教育干预效果显著,提高了小学生、家庭主妇碘缺乏病相关知识的知晓率,促进了行为的改变.%Objective To comprehensively evaluate the effect of health education on intervening iodine deficiency disorders(IDD) in Chinese pupils and housewives,and to provide a basis for prevention and intervention of the disease.Methods A computerized literature search was carried out in Chinese Biomedical Database (CBM),Chinese National Knowledge Infrastructure(CNKI),VIP,Wangfang and PubMed to collect articles published from 1997-2012 concerning the effect of education intervention on iodine deficiency disorders

  14. Analysis of investigation results for iodine deficiency disorders in Guangzhou in 2010%2010年广州市碘缺乏病监测结果分析

    Institute of Scientific and Technical Information of China (English)

    于桂兰; 侯建荣; 胡国媛; 李静; 刘穗星

    2012-01-01

    目的:评价广州市碘缺乏病(IDD)防治措施落实情况和防治效果.方法:随机抽取广州市十个区、二个县中30所学校进行点状调查,以8岁~10岁在校学生为调查对象.结果:8岁~10岁在校学生甲状腺肿大率为4.0%,家庭食用盐碘合格率为93.9%,尿碘的中位数为189 μg/L.结论:广州市碘缺乏病通过食盐加碘为主导的综合性防治措施取得了显著效果.%Objective:To evaluate the preventive measures and control effect of iodine deficiency disorders in Guangzhou. Methods; Thirty schools were selected from ten districts and two counties of Guangzhou randomly in the dot survey, and 8 to 10 - year - old school students were surveyed. Results; Goiter rate of 8 to 10 - year - old school students was 4.0%. Pass rate of iodine in household salt was 93.9% . The average was 189 μg/L for concentration of iodine of urine. Conclusion; Control and prevention measures for iodine deficiency disorders achieved remarkable result by adding iodine in salt mainly.

  15. 38 CFR 4.88b - Schedule of ratings-infectious diseases, immune disorders and nutritional deficiencies.

    Science.gov (United States)

    2010-07-01

    ... appropriate system. 6302Leprosy (Hansen's Disease): As active disease 100 Note: A 100 percent evaluation shall...-infectious diseases, immune disorders and nutritional deficiencies. 4.88b Section 4.88b Pensions, Bonuses... Ratings Infectious Diseases, Immune Disorders and Nutritional Deficiencies § 4.88b Schedule of ratings...

  16. Lack of increased prevalence of immunoregulatory disorders in hereditary angioedema due to C1-inhibitor deficiency.

    Science.gov (United States)

    Farkas, Henriette; Csuka, Dorottya; Gács, Judit; Czaller, Ibolya; Zotter, Zsuzsanna; Füst, George; Varga, Lilian; Gergely, Péter

    2011-10-01

    Hereditary angioedema due to deficiency of C1-INH (HAE-C1-INH) is associated with enhanced consumption of the early complement components, which may predispose for autoimmune disease. We assessed the prevalence of such disorders among HAE- C1-INH patients and their impact on the natural course of HAE-C1-INH. Clinical data and immunoserological parameters of 130 HAE-C1-INH and 174 non-C1-INH-deficient patients with angioedema were analyzed. In our study, the incidence of immunoregulatory disorders was 11.5% in the population of HAE-C1-INH patients and 5.2% among non-C1-INH-deficient controls with angioedema. Immunoserology screening revealed a greater prevalence of anticardiolipin IgM (p=0.0118) among HAE-C1-INH patients, than in those with non-C1-INH-deficient angioedema. We did not find higher prevalence of immunoregulatory disorders among our HAE-C1-INH patients. However, in patients with confirmed immunoregulatory disorders, the latter influenced both the severity of HAE-C1-INH and the effectiveness of its long-term management. Appropriate management of the immunoregulatory disease thus identified improves the symptoms of HAE-C1-INH.

  17. Guanidinoacetate Methyltransferase (GAMT) Deficiency: Late Onset of Movement Disorder and Preserved Expressive Language

    Science.gov (United States)

    O'Rourke, Declan J.; Ryan, Stephanie; Salomons, Gajja; Jakobs, Cornelis; Monavari, Ahmad; King, Mary D.

    2009-01-01

    Guanidinoacetate methyltransferase (GAMT) deficiency is a disorder of creatine biosynthesis, characterized by early-onset learning disability and epilepsy in most affected children. Severe expressive language delay is a constant feature even in the mildest clinical phenotypes. We report the clinical, biochemical, imaging, and treatment data of two…

  18. Autosomal recessive disorder with retardation of growth, mental deficiency, ptosis, pectus excavatum and camptodactyly

    Energy Technology Data Exchange (ETDEWEB)

    Khaldi, F.; Bennaceur, B.; Hammou, A.; Hamza, M.; Gharbi, H.A.

    1988-07-01

    Two strikingly similar brothers issued from consanguineous parents in the second degree present the following patterns of anomalies: Retardation of growth, mental deficiency, ocular abnormalities, pectus excavatum and camptodactyly. The ocular abnormalities include ptosis, microphthalmia and hypertelorism. No endocrine or metabolic aberrations are found. The authors conclude that the disorder has probably an autosomal recessive mode of transmission.

  19. [Severe deglutition disorders and iron deficiency; Plummer-Vinson syndrome].

    Science.gov (United States)

    Geerlings, S E; Statius van Eps, L W

    1991-11-01

    At oesophagogastroscopy a web was seen in the upper oesophagus in a female of 73 years with dysphagia. Because she also had a smooth tongue, a low serum iron level and anaemia, the syndrome of Plummer-Vinson was diagnosed. After treatment with ferrous fumarate the dysphagia, the web and the anaemia disappeared and the serum iron rose. The symptomatology of this syndrome is discussed. Remarkably, the pathogenesis is not completely known. There are indications that this uncommon syndrome is a premalignant disorder.

  20. More Job Services-Better Employment Outcomes: Increasing Job Attainment for People With IDD.

    Science.gov (United States)

    Nord, Derek

    2016-12-01

    Job search, job placement, and on-the-job supports are valuable services provided to many people with intellectual and developmental disabilities (IDD) to obtain work in the community. Investigating those who were unemployed at the time of service entry, this study seeks to extend understanding about the effect of services. Using extant data, a sample of 39,277 people with IDD using Vocational Rehabilitation services were studied to understand the potential cumulative effects of these job-related services and individual characteristics on job attainment. Findings showed people with IDD of different demographic groups had different outcomes. Also, those receiving three job-related services were 16 times more likely to obtain employment than the reference group. This study has wide implications for research, policy, and practice.

  1. Case report of mental disorder induced by niacin deficiency

    Institute of Scientific and Technical Information of China (English)

    Wei WANG; Bo LIANG

    2012-01-01

    The 45-year-old male patient described in this case report had a classic case of pellagra. The patient was initially brought to a psychiatric hospital because of disorderly behavior. On admission the patient was unable to provide a history so he was given a provisional diagnosis of Psychosis Not Otherwise Specified. Despite having the cardinal symptoms of dermatitis, dementia and (three days after admission) diarrhea it took 20 days to confirm the diagnosis of pellagra. After initiation of appropriate treatment it took about six months for the patient to make a complete recovery.

  2. Human Genetic Disorders and Knockout Mice Deficient in Glycosaminoglycan

    Directory of Open Access Journals (Sweden)

    Shuji Mizumoto

    2014-01-01

    Full Text Available Glycosaminoglycans (GAGs are constructed through the stepwise addition of respective monosaccharides by various glycosyltransferases and maturated by epimerases and sulfotransferases. The structural diversity of GAG polysaccharides, including their sulfation patterns and sequential arrangements, is essential for a wide range of biological activities such as cell signaling, cell proliferation, tissue morphogenesis, and interactions with various growth factors. Studies using knockout mice of enzymes responsible for the biosynthesis of the GAG side chains of proteoglycans have revealed their physiological functions. Furthermore, mutations in the human genes encoding glycosyltransferases, sulfotransferases, and related enzymes responsible for the biosynthesis of GAGs cause a number of genetic disorders including chondrodysplasia, spondyloepiphyseal dysplasia, and Ehlers-Danlos syndromes. This review focused on the increasing number of glycobiological studies on knockout mice and genetic diseases caused by disturbances in the biosynthetic enzymes for GAGs.

  3. 2011年全国碘缺乏病病情监测结果分析%National iodine deficiency disorders: an analysis of surveillance data in 2011

    Institute of Scientific and Technical Information of China (English)

    刘鹏; 苏晓辉; 申红梅; 孟凡刚; 范丽珺; 刘守军; 孙殿军

    2015-01-01

    Objectives To understand current situation in national prevention and control of iodine deficiency disorders (IDD),and to evaluate the progress in eliminating IDD in 31 provinces and Xinjiang Production and Construction Corps (Corps) in China.Methods In 2011,30 units were sampled in each of 31 provinces and Corps in China based on the sampling method of Probability Proportional to Size.After excluding townships of water iodine level higher than 150 μg/L,1 primary school was chosen in each unit,by the randomized sampling method,40 students in cach school were sampled for examining their thyroid volume,among them,12 students were tested for their urinary iodine level and for their household salt iodine level and per capital daily salt intake.Near the location of these primary schools,3 townships were chosen,5 pregnant women and 5 lactating women in each township were sampled to test their urinary iodine level.Besides,1 water sample was sampled according to the location in each village (east,west,south,north,and middle) in non-central water supplying villages,and 2 tap water samples in central water supplying villages.The ultrasound was used to detect goiter size according to the diagnostic criteria for endemic goiter; As3+-Ce4+ catalytic spectrophotometry using ammonium per sulfate digestion (WS/T 107-2006) was used to test the urinary iodine level; the testing method recommended by the National Iodine Deficiency Disorders Reference Lab was applied to test the water iodine level,the direct titration method among the generic methods of iodide testing for salt production industry (GB/T 13025.7-1999) was used to determine the salt iodine level; and the arbitration method was adopted for quantitative determination in case of well salt or special salts and the salt intake was estimated based on three-day weighed food record.Evaluation standards are as follows:urinary iodine level of children:deficient is the median of urinary iodine (MUI) less than 100 μg/L,adequate is

  4. Iron deficiency in children with global developmental delay and autism spectrum disorder.

    Science.gov (United States)

    Sidrak, Samuel; Yoong, Terence; Woolfenden, Susan

    2014-05-01

    To investigate the prevalence of and risk factors for iron deficiency in children with global developmental delay and/or autism spectrum disorder (ASD). A retrospective review was conducted of the files of children referred to community paediatric clinics in South West Sydney from May 2009 to July 2011 who were diagnosed with global developmental delay and/or ASD. Data were extracted on iron studies and potential risk factors. Data were analysed using Pearson's ÷(2) -test and Fisher's exact test. Subjects included 122 children. The prevalence of iron depletion was 2.5% (95% CI 0.5-7.0%); that of iron deficiency was 6.6% (95% CI 2.9-12.5%), and that of iron deficiency anaemia was 4.1% (95% CI 1.3-9.3%). In children with global developmental delay without ASD, the prevalence of iron depletion was 1.8% (95% CI 0-9.7%), that of iron deficiency 5.5% (95% CI 1.1-15.1%) and that of iron deficiency anaemia 5.5% (95% CI 1.1-15.1%). In children with ASD with or without global developmental delay, the prevalence of iron depletion was 3.0% (95% CI 0.4-10.4%), that of iron deficiency 7.5% (95% CI 2.5-16.6%) and that of iron deficiency anaemia 3.0% (95% CI 0.4-10.4%). Univariate analysis demonstrated three significant potential risk factors for iron depletion, iron deficiency and iron deficiency anaemia: problems sucking, swallowing or chewing (P = 0.002); poor eating behaviour (P = 0.008); and inadequate amounts of meat, chicken, eggs or fish (P = 0.002). Iron deficiency and iron deficiency anaemia were more common in this clinical sample of children with global developmental delay and/or ASD than in the general population. © 2013 The Authors. Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  5. Biotinidase Deficiency: A Reversible Neurometabolic Disorder (An Iranian Pediatric Case Series

    Directory of Open Access Journals (Sweden)

    Parvaneh KARIMZADEH

    2013-11-01

    Full Text Available  How to Cite This Article: Karimzadeh P, Ahmadabadi F, Jafari N, Jabbehdari S, Alaee MR, Ghofrani M, Taghdiri MM, Tonekaboni SH. Biotinidase Deficiency: A Reversible Neurometabolic Disorder (An Iranian Pediatric Case Series. Iran J Child Neurol. 2013 Autumn; 7(4:47- 52. ObjectiveBiotinidase deficiency is one of the rare congenital metabolic disorders with autosomal recessive inheritance. If this disorder is diagnosed in newborn period, could be prevented well from mental and physical developmentaldelay and most of clinical manifestations.Materials & MethodsThe patients were diagnosed as biotinidase deficiency in Neurology Department of Mofid Children’s Hospital in Tehran, Iran, between 2009 and 2012 were included in this study. This study was conducted to define the age, gender, past medical history, developmental status, general appearance, clinical manifestations, neuroimaging findings, and response to treatment in 16 patients with biotinidase deficiency in this department.ResultsIn clinical presentation, cutaneous lesions were not found in 37% of the patients and 43% patients had not alopecia. 75% patients had abnormal neuroimaging that in 56% of them, generalized brain atrophy and myelination delay were found. Results of the present study showed the efficacy of biotin in early diagnosed patients with seizure and dermatological manifestations. The seizure and skin manifestations were improved after biotin therapy.ConclusionAccording to the results of this study, we suggest that early assessment and diagnosis have an important role in the prevention of disease progression and clinical signs. ReferencesWolf B.Disorders of biotin metabolism. In: Scriver CR,Beaudet AL, Sly W, et al.,eds. The Metabolic and MolecularBases of Inherited Disease, 8thed. New York,NY:McGraw-Hill;2001: 3935-3962.Rathi N, RathiM.Biotinidase deficiency with hypertonia as unusual feature.IndianPediatr. 2009;46(1:65-67.Wolf B.Worldwide survey of neonatal screening for

  6. Prognosis of physiological disorders in physic nut to N, P, and K deficiency during initial growth.

    Science.gov (United States)

    Santos, Elcio Ferreira; Macedo, Fernando Giovannetti; Zanchim, Bruno José; Lima, Giuseppina Pace Pereira; Lavres, José

    2017-06-01

    The description of physiological disorders in physic nut plants deficient in nitrogen (N), phosphorus (P) and potassium (K) may help to predict nutritional imbalances before the appearance of visual symptoms and to guide strategies for early nutrient supply. The aim of this study was to evaluate the growth of physic nuts (Jatropha curcas L.) during initial development by analyzing the gas exchange parameters, nutrient uptake and use efficiency, as well as the nitrate reductase and acid phosphatase activities and polyamine content. Plants were grown in a complete nutrient solution and solutions from which N, P or K was omitted. The nitrate reductase activity, phosphatase acid activity, polyamine content and gas exchange parameters from leaves of N, P and K-deficient plants indicates earlier imbalances before the appearance of visual symptoms. Nutrient deficiencies resulted in reduced plant growth, although P- and K-deficient plants retained normal net photosynthesis (A), stomatal conductance (gs) and instantaneous carboxylation efficiency (k) during the first evaluation periods, as modulated by the P and K use efficiencies. Increased phosphatase acid activity in P-deficient plants may also contribute to the P use efficiency and to A and gs during the first evaluations. Early physiological and biochemical evaluations of N-, P- and K-starved plants may rely on reliable, useful methods to predict early nutritional imbalances. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  7. A candidate mouse model for Hartnup disorder deficient in neutral amino acid transport.

    Science.gov (United States)

    Symula, D J; Shedlovsky, A; Guillery, E N; Dove, W F

    1997-02-01

    The mutant mouse strain HPH2 (hyperphenylalaninemia) was isolated after N-ethyl-N-nitrosourea (ENU) mutagenesis on the basis of delayed plasma clearance of an injected load of phenylalanine. Animals homozygous for the recessive hph2 mutation excrete elevated concentrations of many of the neutral amino acids in the urine, while plasma concentrations of these amino acids are normal. In contrast, mutant homozygotes excrete normal levels of glucose and phosphorus. These data suggest an amino acid transport defect in the mutant, confirmed in a small reduction in normalized values of 14C-labeled glutamine uptake by kidney cortex brush border membrane vesicles (BBMV). The hyperaminoaciduria pattern is very similar to that of Hartnup Disorder cases also show niacin deficiency symptoms, of Hartnup Disorder cases also show niacin deficiency symptoms, which are thought to be multifactorially determined. Similarly, the HPH2 mouse exhibits a niacin-reversible syndrome that is modified by diet and by genetic background. Thus, HPH2 provides a candidate mouse model for the study of Hartnup Disorder, an amino acid transport deficiency and a multifactorial disease in the human.

  8. Genetic Hemoglobin Disorders, Infection, and Deficiencies of Iron and Vitamin A Determine Anemia in Young Cambodian Children123

    Science.gov (United States)

    George, Joby; Yiannakis, Miriam; Main, Barbara; Devenish, Robyn; Anderson, Courtney; An, Ung Sam; Williams, Sheila M.; Gibson, Rosalind S.

    2012-01-01

    In Cambodia, many factors may complicate the detection of iron deficiency. In a cross-sectional survey, we assessed the role of genetic hemoglobin (Hb) disorders, iron deficiency, vitamin A deficiency, infections, and other factors on Hb in young Cambodian children. Data on sociodemographic status, morbidity, and growth were collected from children (n = 3124) aged 6 to 59 mo selected from 3 rural provinces and Phnom Penh municipality. Blood samples were collected (n = 2695) for complete blood count, Hb type (by DNA analysis), ferritin, soluble transferrin receptor (sTfR), retinol-binding protein (RBP), C-reactive protein, and α1-acid glycoprotein (AGP). Genetic Hb disorders, anemia, and vitamin A deficiency were more common in rural than in urban provinces (P 1.0 g/L (P iron deficiency. New low-cost methods for detecting genetic Hb disorders are urgently required. PMID:22378325

  9. Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders.

    Science.gov (United States)

    Palin, Eino J H; Paetau, Anders; Suomalainen, Anu

    2013-08-01

    Genetic evidence from recessively inherited Parkinson's disease has indicated a clear causative role for mitochondrial dysfunction in Parkinson's disease. This role has long been discussed based on findings that toxic inhibition of mitochondrial respiratory complex I caused parkinsonism and that tissues of patients with Parkinson's disease show complex I deficiency. Disorders of mitochondrial DNA maintenance are a common cause of inherited neurodegenerative disorders, and lead to mitochondrial DNA deletions or depletion and respiratory chain defect, including complex I deficiency. However, parkinsonism associates typically with defects of catalytic domain of mitochondrial DNA polymerase gamma. Surprisingly, however, not all mutations affecting DNA polymerase gamma manifest as parkinsonism, but, for example, spacer region mutations lead to spinocerebellar ataxia and/or severe epilepsy. Furthermore, defective Twinkle helicase, a close functional companion of DNA polymerase gamma in mitochondrial DNA replication, results in infantile-onset spinocerebellar ataxia, epilepsy or adult-onset mitochondrial myopathy, but not typically parkinsonism. Here we sought for clues for this specificity in the neurological manifestations of mitochondrial DNA maintenance disorders by studying mesencephalic neuropathology of patients with DNA polymerase gamma or Twinkle defects, with or without parkinsonism. We show here that all patients with mitochondrial DNA maintenance disorders had neuronopathy in substantia nigra, most severe in DNA polymerase gamma-associated parkinsonism. The oculomotor nucleus was also affected, but less severely. In substantia nigra, all patients had a considerable decrease of respiratory chain complex I, but other respiratory chain enzymes were not affected. Complex I deficiency did not correlate with parkinsonism, age, affected gene or inheritance. We conclude that the cell number in substantia nigra correlated well with parkinsonism in DNA polymerase gamma

  10. Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet.

    Science.gov (United States)

    Leen, Wilhelmina G; Mewasingh, Leena; Verbeek, Marcel M; Kamsteeg, Erik-Jan; van de Warrenburg, Bart P; Willemsen, Michel A

    2013-09-01

    Movement disorders are a prominent feature of glucose transporter-1 (GLUT1) deficiency syndrome (GLUT1DS). First-choice treatment is a ketogenic diet, but compliance is poor. We have investigated the effect of the modified Atkins diet as an alternative treatment for movement disorders in GLUT1DS. Four patients with GLUT1DS ages 15 to 30 years who had movement disorders as the most prominent feature were prospectively evaluated after initiation of the modified Atkins diet. Movement disorders included dystonia, ataxia, myoclonus, and spasticity, either continuous or paroxysmal, triggered by action or exercise. Duration of treatment ranged from 3 months to 16 months. All patients reached mild to moderate ketosis and experienced remarkable improvement in the frequency and severity of paroxysmal movement disorders. Cognitive function also improved subjectively. The modified Atkins diet is an effective and feasible alternative to the ketogenic diet for the treatment of GLUT1DS-related paroxysmal movement disorders in adolescence and adulthood. © 2013 International Parkinson and Movement Disorder Society.

  11. Mood disorder with mixed, psychotic features due to vitamin b12 deficiency in an adolescent: case report

    OpenAIRE

    2012-01-01

    Abstract Vitamin B12 is one of the essential vitamins affecting various systems of the body. Reports of psychiatric disorders due to its deficiency mostly focus on middle aged and elderly patients. Here we report a case of vitamin B 12 deficiency in a 16-year old, male adolescent who presented with mixed mood disorder symptoms with psychotic features. Chief complaints were “irritability, regressive behavior, apathy, crying and truancy” which lasted for a year. Premorbid personality was unrema...

  12. Hematological Disorders following Gastric Bypass Surgery: Emerging Concepts of the Interplay between Nutritional Deficiency and Inflammation

    Directory of Open Access Journals (Sweden)

    Mingyi Chen

    2013-01-01

    Full Text Available Obesity and the associated metabolic syndrome are among the most common and detrimental metabolic diseases of the modern era, affecting over 50% of the adult population in the United States. Surgeries designed to promote weight loss, known as bariatric surgery, typically involve a gastric bypass procedure and have shown high success rates for treating morbid obesity. However, following gastric bypass surgery, many patients develop chronic anemia, most commonly due to iron deficiency. Deficiencies of vitamins B1, B12, folate, A, K, D, and E and copper have also been reported after surgery. Copper deficiency can cause hematological abnormalities with or without neurological complications. Despite oral supplementation and normal serum concentrations of iron, copper, folate, and vitamin B12, some patients present with persistent anemia after surgery. The evaluation of hematologic disorders after gastric bypass surgery must take into account issues unique to the postsurgery setting that influence the development of anemia and other cytopenias. In this paper, the clinical characteristics and differential diagnosis of the hematological disorders associated with gastric bypass surgery are reviewed, and the underlying molecular mechanisms are discussed.

  13. Hospital admissions and morbidity in people with intellectual developmental disorders

    Directory of Open Access Journals (Sweden)

    Rubén José Bernal-Celestino

    2017-07-01

    Full Text Available Objective. People with intellectual developmental disorders (IDD have worse health statuses in comparison with general population. The objective of this paper is to compare access and hospital morbimortality in people with IDD and general population. Material and methods. We conducted aretrospective cross-sectional analytical study and analyzed data on admissions and discharges between IDD patients and the rest of them, in Ciudad Real, España. Results. Out of 51 325 hospital admissions, 441 (0.9% belonged to the group of persons with IDD. The IDD group had fewer programmed hospitalization than the general population and fewer surgical interventions. They presented more admissions for mental disorders and respiratory system diseases. Conclusions.The data presented confirm TDI population have different patterns of disease. Furthermore, this study reveal potential difficulties in access to health care in this population.

  14. SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.

    Science.gov (United States)

    Park, Julien H; Hogrebe, Max; Grüneberg, Marianne; DuChesne, Ingrid; von der Heiden, Ava L; Reunert, Janine; Schlingmann, Karl P; Boycott, Kym M; Beaulieu, Chandree L; Mhanni, Aziz A; Innes, A Micheil; Hörtnagel, Konstanze; Biskup, Saskia; Gleixner, Eva M; Kurlemann, Gerhard; Fiedler, Barbara; Omran, Heymut; Rutsch, Frank; Wada, Yoshinao; Tsiakas, Konstantinos; Santer, René; Nebert, Daniel W; Rust, Stephan; Marquardt, Thorsten

    2015-12-03

    SLC39A8 is a membrane transporter responsible for manganese uptake into the cell. Via whole-exome sequencing, we studied a child that presented with cranial asymmetry, severe infantile spasms with hypsarrhythmia, and dysproportionate dwarfism. Analysis of transferrin glycosylation revealed severe dysglycosylation corresponding to a type II congenital disorder of glycosylation (CDG) and the blood manganese levels were below the detection limit. The variants c.112G>C (p.Gly38Arg) and c.1019T>A (p.Ile340Asn) were identified in SLC39A8. A second individual with the variants c.97G>A (p.Val33Met) and c.1004G>C (p.Ser335Thr) on the paternal allele and c.610G>T (p.Gly204Cys) on the maternal allele was identified among a group of unresolved case subjects with CDG. These data demonstrate that variants in SLC39A8 impair the function of manganese-dependent enzymes, most notably β-1,4-galactosyltransferase, a Golgi enzyme essential for biosynthesis of the carbohydrate part of glycoproteins. Impaired galactosylation leads to a severe disorder with deformed skull, severe seizures, short limbs, profound psychomotor retardation, and hearing loss. Oral galactose supplementation is a treatment option and results in complete normalization of glycosylation. SLC39A8 deficiency links a trace element deficiency with inherited glycosylation disorders.

  15. 河南省叶县乡村医生防治碘缺乏病知识和行为情况调查%A survey of knowledge and practice on iodine deficiency disorders in rural doctors in Ye County, Henan Province

    Institute of Scientific and Technical Information of China (English)

    杨金; 郑合明; 朱琳; 崔亚红

    2014-01-01

    Objective To know the rural doctors' knowledge,belief and practice on iodine deficiency disorders(IDD),as well as their capability on health education communication in Ye County,Henan Province.Methods Semi-structured interviews were conducted among 50 rural doctors in Ye County,Henan Province.Topics covered include:sales of salt purchases,daily supervision and monitoring activities of salt,the health effects of salt,the situation of rural doctors trained,the situation of rural doctors participated in health education and related recommendations.Results ①Twenty-nine of the rural doctors knew exactly the advantage of salt iodization.②Thirty-nine of the rural doctors had taken part in the half quantitative detection of salt once or twice a year and 15 of them knew the supervision activities of salt industry department.③Forty-nine of the rural doctors believed salt iodization was beneficial to health and 48 of them were willing to participate in health education on IDD.④The major ways of their acquiring health knowledge were promotional materials [54.0% (27/50)],TV [50.0% (25/50)],and lecture/training [24.0% (12/50)].⑤Thirty-seven of the rural doctors had taken part in health education on IDD.They were used to use booklets [68.0% (34/50)],promotional slogan [36.0% (18/50)],broadcast [24.0% (12/50)],and doctor consultation [24.0% (12/50)].⑥Twenty-eight of the rural doctors thought the current health education on IDD was better.They hoped to reduce the price of salt,strengthen supervision,receive more training and health education on IDD.Conclusions The rural doctors remain relatively lack of knowledge on IDD.Rural doctors have the initiative and responsibility to conduct health education on IDD,but their pattern is still a one-way propagation.%目的 了解河南省盐产地叶县乡村医生对碘缺乏病防治的知信行情况以及其健康教育传播能力.方法 在河南省叶县选择50名乡村医生,作为调查对象,采用半结

  16. The KAP status of Iodine Deficiency Disorders in Linxia Hui Autonomous Prefecture of Gansu in 2010%2010年甘肃省临夏回族自治州碘缺乏病知行信现状调查

    Institute of Scientific and Technical Information of China (English)

    曹永琴; 王燕玲; 窦瑜贵; 李洪波; 郑菁; 孙玮; 朱小南; 王尹

    2012-01-01

    Objective To survey status on health education of Iodine Deficiency Disorders (IDD) in IDD serious endemic areas in Gansu Province. Methods The stratified sampling and questionnaire survey methods were selected in 8 counties. 1225 primary school students in Grade 5 and 797 childbearing women were enrolled. Results The percentage of the pupil awareness about the role of IDD resulting in goiter, the role of IDD playing in intelligence damage, the role of IDD playing in bom silly children were 88. 8% , 85. 6% , 68. 7% respectively (P < 0.05), and 86. 2% , 70. 0% , 46. 3% among women (P < 0. 05), those rates in women were lower than that in pupils (P < 0. 05). The pupil who knew iodated salt as the key measure to prevent IDD were 90. 0% , and 87. 3% among women. 87. 3% of pupils believed that IDD could be prevented by iodized salt, and 52. 9% of them told this information to parent The women who were buying and eating iodized salt consciously were 60. 2% and 69. 8%. Conclusion Through school health education model, level of integrated knowledge, attitude and practice (KAP) in Linxia Hui Autonomous Prefecture were higher than province lev-eL However KAP were obviously difference among counties, target population and health knowledge. It should be carried out process evaluation and religion based health education model to understand and solve these problems, and strengthen attitude and practice on health education intervention for sustaining development%目的 了解甘肃省碘缺乏病重点地区碘缺乏病健康教育现状.方法 采用随机抽样方法对临夏州8县(市)1225名五年级小学生和797名育龄妇女进行碘缺乏病问卷调查.结果 学生对缺碘造成甲状腺肿、智力低下和生傻孩子知晓率分别为88.8%、85.6%和68.7%,差异有统计学意义(P<0.05),碘盐是最好防治方法的知晓率为90.0%,向父母宣传的行为具有率为52.9%,认为碘缺乏病一定能预防的信念具有率为87.3%.育龄妇女

  17. 甘肃省临夏回族自治州碘缺乏病健康教育效果评价%Effect evaluation of health education on iodine deficiency disorders prevention in Linxia Hui autonomous prefecture of Gansu province

    Institute of Scientific and Technical Information of China (English)

    曹永琴; 王燕玲; 窦瑜贵; 李洪波; 郑菁; 孙玮; 朱小南

    2013-01-01

    良好模式,提高了健康教育的可行性和和可及性,其效果更加持久.%Objective To evaluate the effect of health education on the target population of iodine deficiency disorders (IDD) in Linxia Hui autonomous prefecture.Methods During 2006-2010,IDD health education was carried out in the target population of Linxia Hui autonomous prefecture,and IDD knowledge of 5th grade pupil and 20-50 years old child-bearing women were surveyed by stratified sampling and questionnaire survey methods to evaluate the effect of health education.Results After health education,IDD knowledge passing rate rose from 55.6% (548/986) and 18.0%(118/657) to 90.0%(1103/1225) and 86.2%(687/797) among pupils and women,respectively.The awareness rates of iodine deficiency in causing goiter,mental retardation and birth born silly children,and the key role of iodized salt in controling IDD were increased from 79.2% (781/986),76.5% (754/986),51.7% (510/986) and 82.3% (811/986) to 88.8% (1088/1225),85.6% (1049/1225),68.7% (842/1225) and 90.0% (1103/1225) among pupils,and from 48.6% (319/657),28.3% (186/657),15.4% (101/657) and 39.6% (260/657) to 86.2% (687/797),70.0% (558/797),46.3% (369/797) and 87.3% (696/797) among women,and all the difference were significant,respectively.Belief rate held by students that health education can prevent iodine deficiency disorders was 87.3% (1069/1225),and 52.9% (648/1225) of the students told their parents about IDD.The rate of consciously purchase of qualified iodized salt was 87.1% (694/797) after health education among women of childbearing age,and the consumption rate of iodized salt was 64.6%(515/797).More than 90% of the people in relevant departments knew iodine deficiency disorders related knowledge,in particular,had a clear understanding of intellectual hazards caused by iodine deficiency,and actively supported and participated in health education in the prevention and control of iodine

  18. Ethological Approach to Autism Spectrum Disorders

    OpenAIRE

    Luiz F.L. Pegoraro; Setz, Eleonore Z. F.; Paulo Dalgalarrondo

    2014-01-01

    The purpose of the study was to develop a new ethogram for the assessment of children and adolescents with autism spectrum disorders (ASD) and intellectual developmental disorder (IDD) and to test whether this instrument accurately distinguishes ASD participants (n = 61) from IDD participants (n = 61). An ethogram with 88 behavior elements was generated, including body postures, verbalizations, facial expressions, motor stereotypies, head postures, gaze behavior, gestures, and interpersonal d...

  19. 保山市2008-2011年家庭主妇碘缺乏病健康教育成效分析%Analysis on effects of health education on iodine deficiency disorders among housewives in Baoshan from 2008 to 2011

    Institute of Scientific and Technical Information of China (English)

    李艳萍; 郑维斌; 段凌翠; 刘洪光; 黄东升

    2013-01-01

    Objective To analyze the effects of health education on iodine deficiency disorders (IDD) among housewives in Baoshan from 2008 to 2011,so as to further provide scientific evidence for IDD prevention and control.Methods According to the task arrangements in the " Technical Scenario of Endemic Disease Control and Prevention Program",the health education on mass and interpersonal communication was performed in each county every year.The mass communication coved the whole project county,while the interpersonal communication was conducted only in 1 ~3 counties.Then 15 housewives whose houses were close to the township central primary school were randomly sampled before and after the intervention.Results From 2008 to 2011,the knowledge rate increased after intervention,and exceeded the national requirement level (80%).The knowledge rate of IDD increased from 87.8% in 2008 to 94.37% after intervention in 2011,and the change of pre-to-post was 6.57% ; At the same time,the knowledge rate during 2009 ~2011 after baseline survey and effect evaluation were higher than that of 2008,while the rate decreased in 2011,Conclusions Since the health education programs were launched in Baoshan,the rate knowledge of IDD have increased and exceeded the national standard.,which showed that the effects of health education intervention was remarkable%目的 分析保山市2008-2011年家庭主妇碘缺乏病健康教育成效,为进一步开展碘缺乏病防治工作提供参考.方法 按照年度《地方病防治项目技术方案》任务安排,每年在各县开展大众传播和人际传播健康教育活动.大众传播覆盖整个项目县,人际传播仅在每个项目县的1~3个乡镇开展,然后在所选乡镇中心小学附近分别于干预前和干预后随机抽取15名家庭主妇进行问卷调查.结果 2008-2011年间,每年开展健康教育活动后,家庭主妇碘缺乏病防治知识知晓率均较当年干预前有所提高,且超过国家标准(80

  20. Vitamin D Deficiency in HIV Infection: Not Only a Bone Disorder

    Directory of Open Access Journals (Sweden)

    Pasquale Mansueto

    2015-01-01

    Full Text Available Hypovitaminosis D is a worldwide disorder, with a high prevalence in the general population of both Western and developing countries. In HIV patients, several studies have linked vitamin D status with bone disease, neurocognitive impairment, depression, cardiovascular disease, high blood pressure, metabolic syndrome, type 2 diabetes mellitus, infections, autoimmune diseases like type 1 diabetes mellitus, and cancer. In this review, we focus on the most recent epidemiological and experimental data dealing with the relationship between vitamin D deficiency and HIV infection. We analysed the extent of the problem, pathogenic mechanisms, clinical implications, and potential benefits of vitamin D supplementation in HIV-infected subjects.

  1. 2009年甘肃省碘缺乏病调查结果分析%Analysis of an investigation results on iodine deficiency disorders in Gansu in 2009

    Institute of Scientific and Technical Information of China (English)

    王燕玲; 格鹏飞; 朱小南; 窦瑜贵; 郑菁; 曹永琴; 李洪波; 席进孝; 孙玮; 姚琳

    2011-01-01

    Objective To master the status in control of iodine deficiency disorders (IDD) in Gansu province and to provide the basis for development of control strategies. Methods One county which reached the national standardization of IDD elimination was selected randomly from each of 14 cities of Gansu province in 2009, then one town was selected respectively from five directions (east, south, west, north, and central) of the above selected counties. One village was chosen from every town which was selected for investigating household iodized salt and iodized salt sales network. At the same time the thyroid of children was examined, their urinary iodine (UI) was determined, the intelligence quotient(IQ) values of children were measured and health education was surveyed in one primary school which was chosen in each of the selected town. Results A total of 1420 edible salt samples were tested;the weighted iodized salt coverage rate and the weighted qualified iodized salt rate were 99.53% and 98.15 respectively. Urine samples were collected from 1761 children included in the study. The urinary iodine median was 225.87 μg/L. The urinary iodine medians were at optimal levels in five counties, over the optimal levels in seven counties and at excessive levels in two counties. A total of 3051 children aged 8 - 10 were randomly selected for thyroid examination. The weighted thyroid goiter rate(TGR) of children was 1.9%, and TGR was higher than 5% only in Hoaggu county. IQ of 2815 children was tested and the mean IQ was 105.3, except for the country of Zhuoni and Kangle, the mean IQ of other counties were over 100. The average score of health education was 3.2.Children of 57.08% (1229/2153) knew that iodine deficiency could lead to mental retardation, 71.76% (1544/2153) knew that iodine deficiency could cause thyroid goiter, 68.04%( 1465/2153 ) knew that eating iodized salt was the best method for IDD prevention and control and 61.82%(1331/2153) informed their families of the

  2. Vitamin D across growth hormone (GH) disorders: From GH deficiency to GH excess.

    Science.gov (United States)

    Ciresi, A; Giordano, C

    2017-04-01

    The interplay between vitamin D and the growth hormone (GH)/insulin-like growth factor (IGF)-I system is very complex and to date it is not fully understood. GH directly regulates renal 1 alpha-hydroxylase activity, although the action of GH in modulating vitamin D metabolism may also be IGF-I mediated. On the other hand, vitamin D increases circulating IGF-I and the vitamin D deficiency should be normalized before measurement of IGF-I concentrations to obtain reliable and unbiased IGF-I values. Indeed, linear growth after treatment of nutritional vitamin D deficiency seems to be mediated through activation of the GH/IGF-I axis and it suggests an important role of vitamin D as a link between the proliferating cartilage cells of the growth plate and GH/IGF-I secretion. Vitamin D levels are commonly lower in patients with GH deficiency (GHD) than in controls, with a variable prevalence of insufficiency or deficiency, and this condition may worsen the already known cardiovascular and metabolic risk of GHD, although this finding is not common to all studies. In addition, data on the impact of GH treatment on vitamin D levels in GHD patients are quite conflicting. Conversely, in active acromegaly, a condition characterized by a chronic GH excess, both increased and decreased vitamin D levels have been highlighted, and the interplay between vitamin D and the GH/IGF-I axis becomes even more complicated when we consider the acromegaly treatment, both medical and surgical. The current review summarizes the available data on vitamin D in the main disorders of the GH/IGF-I axis, providing an overview of the current state of the art.

  3. Analysis of district-level evaluation results after reaching the goal of eliminating iodine deficiency disorders in Xiamen city%厦门市消除碘缺乏病目标区级考评结果分析

    Institute of Scientific and Technical Information of China (English)

    伍啸青; 戴龙; 陈敏; 张亚平; 陈忠龙; 张燕峰; 洪清祺

    2011-01-01

    Objective To explore the change in the state of iodine deficiency disorders (IDD) after achieving the stage goal of eliminating IDD in Xiamen city and to evaluate the effect of prevention and treatment measures, provide scientific basis for the development of control strategies. Methods There were 6 districts in the city, and each district as a unit was to carry out the inspection for organization and leadership, iodine salt management, monitoring and control, health education (referred to as the four management indicators) according to "the county - level assessment and evaluation implementation detailed rules of realizing the goal to eliminate IDD in Fujian province". According to the east, west, south, north and middle position in each district, a village and a primary school were selected. If there were less than five towns in the district, all towns have been selected. Forty 8 to 10 years old children in each school were randomly selected to check thyroid and among them 20 children were collected urine samples to determine urinary iodine. According to national monitoring standard of IDD, the household salt in each district were collected to test salt iodine, checking the 8 to 10 years old children's goiter situation by palpation, determining the salt - iodine by direct titration, determining the urine - iodine by arsenic cerium catalytic spectrophotometry. Results The average scores of the four management indicators was 93.1 in Xiamen city. The adjusted goiter rate of children aged 8 to 10 years old was 1.7%. The urinary median iodine was 186.7 μg/L, the proportion of urine - iodine level 的要求,2009年对厦门市的6个区开展组织领导、碘盐管理、监测与防治、健康教育(简称4项管理指标)的检查;以区为单位,每个区按东、西、南、北、中5个方位抽取1个镇(镇数在5个以下的区则全部抽取),每个镇各抽查1所小学,每所小学抽取8~10岁学生40名以上进行甲状腺检查,其中抽取20名学

  4. Evaluation of the knowledge level of psychology students on Attention Deficiency and Hyperactivity Disorder

    Directory of Open Access Journals (Sweden)

    A. Şebnem Soysal

    2011-05-01

    Full Text Available Since ADHD is a matter of clinical diagnosis, occupational proficiency gains utmost importance on behalf of psychologists. The aim of this research is to determine the knowledge level of students on attention deficiency and hyperactivity disorder, who study in different classes of the Psychology Department in Uludağ University. The study is conducted on a total of 151 volunteering students from four different classes in the Psychology Department of Uludağ University. A questionnaire was administered to measure the knowledge level of these students on ADHD, who participated in the research. The points received from the questionnaire that was used to measure the participants’ level of knowledge on ADHD were compared in terms of sex, age and socio-demographic characteristics and no significant differences were found among the groups. The results of the study demonstrate that pschology students’ accumulation of knowledge on ADHD is unsatisfactory.

  5. Genetic deficiency of the mitochondrial protein PGAM5 causes a Parkinson's-like movement disorder.

    Science.gov (United States)

    Lu, Wei; Karuppagounder, Senthilkumar S; Springer, Danielle A; Allen, Michele D; Zheng, Lixin; Chao, Brittany; Zhang, Yan; Dawson, Valina L; Dawson, Ted M; Lenardo, Michael

    2014-09-15

    Mitophagy is a specialized form of autophagy that selectively disposes of dysfunctional mitochondria. Delineating the molecular regulation of mitophagy is of great importance because defects in this process lead to a variety of mitochondrial diseases. Here we report that mice deficient for the mitochondrial protein, phosphoglycerate mutase family member 5 (PGAM5), displayed a Parkinson's-like movement phenotype. We determined biochemically that PGAM5 is required for the stabilization of the mitophagy-inducing protein PINK1 on damaged mitochondria. Loss of PGAM5 disables PINK1-mediated mitophagy in vitro and leads to dopaminergic neurodegeneration and mild dopamine loss in vivo. Our data indicate that PGAM5 is a regulator of mitophagy essential for mitochondrial turnover and serves a cytoprotective function in dopaminergic neurons in vivo. Moreover, PGAM5 may provide a molecular link to study mitochondrial homeostasis and the pathogenesis of a movement disorder similar to Parkinson's disease.

  6. Genetic deficiency of the mitochondrial protein PGAM5 causes a Parkinson’s-like movement disorder

    Science.gov (United States)

    Lu, Wei; Karuppagounder, Senthilkumar S.; Springer, Danielle A.; Allen, Michele D.; Zheng, Lixin; Chao, Brittany; Zhang, Yan; Dawson, Valina L.; Dawson, Ted M.; Lenardo, Michael

    2015-01-01

    Mitophagy is a specialized form of autophagy that selectively disposes of dysfunctional mitochondria. Delineating the molecular regulation of mitophagy is of great importance because defects in this process lead to a variety of mitochondrial diseases. Here we report that mice deficient for the mitochondrial protein, phosphoglycerate mutase family member 5 (PGAM5), displayed a Parkinson’s-like movement phenotype. We determined biochemically that PGAM5 is required for the stabilization of the mitophagy-inducing protein PINK1 on damaged mitochondria. Loss of PGAM5 disables PINK1-mediated mitophagy in vitro and leads to dopaminergic neurodegeneration and mild dopamine loss in vivo. Our data indicate that PGAM5 is a regulator of mitophagy essential for mitochondrial turnover and serves a cytoprotective function in dopaminergic neurons in vivo. Moreover, PGAM5 may provide a molecular link to study mitochondrial homeostasis and the pathogenesis of a movement disorder similar to Parkinson’s disease. PMID:25222142

  7. NASA Docking System (NDS) Interface Definitions Document (IDD). Revision C, Nov. 2010

    Science.gov (United States)

    2010-01-01

    The NASA Docking System (NDS) mating system supports low approach velocity docking and provides a modular and reconfigurable standard interface, supporting crewed and autonomous vehicles during mating and assembly operations. The NDS is NASA's implementation for the emerging International Docking System Standard (IDSS) using low impact docking technology. All NDS configurations can mate with the configuration specified in the IDSS Interface Definition Document (IDD) released September 21, 2010. The NDS evolved from the Low Impact Docking System (LIDS). The acronym international Low Impact Docking System (iLIDS) is also used to describe this system. NDS and iLIDS may be used interchangeability. Some of the heritage documentation and implementations (e.g., software command names) used on NDS will continue to use the LIDS acronym. The NDS IDD defines the interface characteristics and performance capability of the NDS, including uses ranging from crewed to autonomous space vehicles and from low earth orbit to deep space exploration. The responsibility for developing space vehicles and for making them technically and operationally compatible with the NDS rests with the vehicle providers. Host vehicle examples include crewed/uncrewed spacecraft, space station modules, elements, etc. Within this document, any docking space vehicle will be referred to as the host vehicle. This document defines the NDS-to-NDS interfaces, as well as the NDS-to-host vehicle interfaces and performance capability.

  8. The dietary pattern of residents in iodine deficiency area and its influence on iodine deficiency disorders%缺碘区居民膳食结构及其对碘缺乏病的影响

    Institute of Scientific and Technical Information of China (English)

    焦永卓; 牟李红; 李革; 李继斌; 李心术

    2012-01-01

    OBJECTIVE To investigate the dietary pattern and cognition degree toward iodine deficiency, in order to provide the reference for control the influence of iodine deficiency. METHODS Carried out 24-hours dietary recall to research residents' dietary intake in two areas, and used questionnaire to know residents' awareness about iodine deficiency disease. RESULTS The average daily energy intake of residents in Yunyang and Bishan respectively was 2 066.47, 2 256.89 kcal, the daily intake of protein, vilaminBl. vitaminB2 and iodine respectively was 65.47g, 70.3g; 0.89mg, 1.21mg; 0.74mg, 1.32mg; 56.07μg, 70.30μg. The nutrition intake of residents in two counties bad significant differences. The ratio of energy of the three nutriments were reasonable; only 22.7% and 26.1% (χ2 = 23.76, P < 0.001) knew the correct answer of iodine deficiency harm in Yunyang and Bishang county. CONCLUSION Energy- protein malnutrition and some vitamin deficiency can affect energy and protein metabolism, and be against to prevention of IDD. For better IDD's prevention and treatment, it should strength the scientific meal guidance and nutrition health education to residents in two areas, meanwhile make related policy and measures of nutrition improvement%目的 了解重庆市缺碘区居民膳食结构和对碘缺乏病知识的掌握情况,以及膳食因素对碘缺乏病的影响,为制定该病综合防治措施及进行膳食指导、健康教育提供依据.方法 采用整群随机抽样方法,对当地居民进行24h膳食回顾法调查其膳食摄入情况,并采用问卷表了解居民对碘缺乏病相关知识的知晓情况.结果 云阳壁山两县居民能量摄入量分别为2066.47 kcal,2256.89 kcal; 蛋白质65.47 g,70.30 g;核黄素0.74 mg,1.32 mg;硫胺素0.89 mg,1.21 mg;碘56.07 μg,70.30μg,以上营养素摄入量两县的差异有统计学意义,三大营养素供能比适当,对人体缺碘主要危害的回答正确率云阳璧山分别为22.7%,26.1%(x2

  9. Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.

    NARCIS (Netherlands)

    Steinfeld, R.; Grapp, M.; Kraetzner, R.; Dreha-Kulaczewski, S.; Helms, G.; Dechent, P.; Wevers, R.A.; Grosso, S.; Gartner, J.

    2009-01-01

    Sufficient folate supplementation is essential for a multitude of biological processes and diverse organ systems. At least five distinct inherited disorders of folate transport and metabolism are presently known, all of which cause systemic folate deficiency. We identified an inherited brain-specifi

  10. Understanding deficient emotional self-regulation in adults with attention deficit hyperactivity disorder: a controlled study.

    Science.gov (United States)

    Surman, Craig B H; Biederman, Joseph; Spencer, Thomas; Miller, Carolyn A; McDermott, Katie M; Faraone, Stephen V

    2013-09-01

    While symptoms of deficient emotional self-regulation (DESR) such as low frustration tolerance, temper outbursts, emotional impulsivity, and mood lability are commonly associated with attention deficit hyperactivity disorder (ADHD), little is known about their nature. The main aim of this post hoc study was to examine the correlates of DESR in a large sample of adults with and without ADHD. Subjects were 206 adults with ADHD and 123 adults without ADHD from a family study of ADHD. Emotional impulsivity was operationalized using items from the Barkley Current Behavior Scale. Subjects were comprehensively assessed for psychiatric comorbidity using structured diagnostic interview methodology. We used the Quality of Life, Enjoyment, and Satisfaction Questionnaire-Short Form (QLES-Q-SF) and Social Adjustment Scale-Self-report (SAS-SR) to assess quality of life and psychosocial functioning. DESR was more common among ADHD compared with non-ADHD adults, and 55% of adults with ADHD reported extreme DESR of greater severity than 95% of control subjects. The association of ADHD and DESR was not entirely accounted for by either current or lifetime comorbid disorders. DESR was also associated with significant functional impairment as evaluated by the QLES-Q-SF and SAS-SR, and with reduced marital status, as well as higher risk for traffic accidents and arrests. DESR adversely impacts quality of life in adults with ADHD. More work is needed to further evaluate DESR in clinical and investigational studies of subjects with ADHD.

  11. Iron Deficiency Parameters in Children and Adolescents with Attention-Deficit/Hyperactivity Disorder.

    Science.gov (United States)

    Percinel, Ipek; Yazici, Kemal Utku; Ustundag, Bilal

    2016-04-01

    The aim of this study is to compare iron deficiency parameters in patients with stimulant-naive attention-deficit/hyperactivity disorder (ADHD) and healthy controls, to investigate whether there are differences among the ADHD presentations, and to evaluate the relationship between ADHD symptom severity and serum ferritin levels. In addition, ADHD-Predominantly Inattentive (ADHD-PI) patients with restrictive hyperactivity/impulsivity symptoms were evaluated as a separate group with "restrictive inattention presentation" (ADHD-Rest) and were compared with other groups. Patients with ADHD-Rest are typically defined as having six or more symptoms of inattention and fewer than three symptoms of hyperactivity/impulsivity. A total of 200 ADHD cases consisting of 100 ADHD-Combine (ADHD-C) and 100 ADHD-PI and a total of 100 healthy control cases were included in the study. The Schedule for Affective Disorders and Schizophrenia for School Age Children-Present and Lifetime Version was performed in a semi-structured interview during the diagnosis. The Turgay DSM-IV-Based Child and Adolescent Behavior Disorders Screening and Rating Scale, the Conners' Rating Scale-Revised: Long Form (Parent-Teacher) (CPRSR:L, CTRS-R:L) were used for clinical evaluation. Hemogram, serum iron, iron binding capacity and serum ferritin levels were assessed. There were no significant differences between the ADHD patients and the healthy control cases in terms of iron deficiency parameters. Further, there were no significant differences among the ADHD presentations in terms of the same parameters, nor were there any significant differences when the groups were examined after the identification of the ADHD-Rest. The CPRS-R:L Hyperactivity and the CTRS-R:L Hyperactivity scores were negatively correlated with serum ferritin level in the ADHD group. To our knowledge, our current study is the first to compare serum ferritin levels in ADHD-Rest with other presentations of ADHD, and included the largest

  12. Maternal hypothyroxinaemia during the first half of gestation in an iodine deficient area with endemic cretinism and related disorders.

    Science.gov (United States)

    Vermiglio, F; Lo Presti, V P; Scaffidi Argentina, G; Finocchiaro, M D; Gullo, D; Squatrito, S; Trimarchi, F

    1995-04-01

    Iodine deficiency is well known as the cause of several disorders such as endemic goitre and cretinism, along with a wide spectrum of psychoneurological development disorders including endemic mental deficiency and endemic cognitive deficiency, which are generally correlated to damage to the fetus. Such damage is, by inference, deemed a consequence either directly of iodine deficiency or of insufficient availability of thyroxine at the feto-placental unit level. Early pregnancy represents the crucial period for neurogenesis in the embryo. Several experimental studies have emphasized the direct role of maternal T4 in neurological embryogenesis, before the onset of fetal thyroid function and, therefore, its protective role in fetal thyroid failure. The objective of this study was to evaluate whether iodine deficiency may influence thyroid status of pregnant women throughout the first half of pregnancy. Thyroid function tests including total and free T4 and T3, TBG and TSH along with urinary iodine excretion were measured in the serum of pregnant women from an iodine deficient endemic goitre area in north-eastern Sicily, at 8, 13 and 20 weeks of gestation. The times of sampling were chosen to correspond approximately to a period prior to, coincident with and after the onset of fetal thyroid function, respectively. The longitudinal study was undertaken in 16 euthyroid pregnant women from the iodine deficient area in which major iodine deficiency disorders such as endemic cretinism and endemic cognitive deficiency in schoolchildren still persist (area A) and in 7 age matched volunteer pregnant women from a marginally iodine sufficient area (area B). Hormones and TBG were measured using commercial kits. Urinary iodine was measured by an automated method. The divergent changes in serum T4 and TBG with pregnancy progression induced a progressive TBG desaturation by T4 during the whole study period (from 22 to 17% in area A, ANOVA two-way F = 18.9, P pregnant women. FT4

  13. Reinforcement and Stimulant Medication Ameliorate Deficient Response Inhibition in Children with Attention-Deficit/Hyperactivity Disorder.

    Science.gov (United States)

    Rosch, Keri S; Fosco, Whitney D; Pelham, William E; Waxmonsky, James G; Bubnik, Michelle G; Hawk, Larry W

    2016-02-01

    This study examined the degree to which reinforcement, stimulant medication, and their combination impact response inhibition in children with Attention-Deficit/Hyperactivity Disorder (ADHD). Across three studies, participants with ADHD (n = 111, 25 girls) and typically-developing (TD) controls (n = 33, 6 girls) completed a standard version of the stop signal task (SST) and/or a reinforcement-manipulation SST with performance-contingent points. In two of these studies, these tasks were performed under placebo or 0.3 and 0.6 mg/kg methylphenidate (MPH) conditions. Cross-study comparisons were conducted to test hypotheses regarding the separate and combined effects of reinforcement and methylphenidate on response inhibition among children with ADHD relative to TD controls. Baseline response inhibition was worse among children with ADHD compared to controls. MPH produced dose-related improvements in response inhibition in children with ADHD; compared to non-medicated TD controls, 0.3 mg/kg MPH normalized deficient response inhibition, and 0.6 mg/kg MPH resulted in better inhibition in children with ADHD. Reinforcement improved response inhibition to a greater extent for children with ADHD than for TD children, normalizing response inhibition. The combination of MPH and reinforcement improved response inhibition among children with ADHD compared to reinforcement alone and MPH alone, also resulting in normalization of response inhibition despite repeated task exposure. Deficient response inhibition commonly observed in children with ADHD is significantly improved with MPH and/or reinforcement, normalizing inhibition relative to TD children tested under standard conditions.

  14. Application of DDES and IDDES with shear layer adapted subgrid length-scale to separated flows

    Science.gov (United States)

    Guseva, E. K.; Garbaruk, A. V.; Strelets, M. Kh

    2016-11-01

    A comparative study is conducted of the original versions of Delayed Detached- Eddy Simulation (DDES) and Improved DDES (IDDES) and these approaches combined with “shear-layer-adapted” (SLA) subgrid length-scale proposed recently for resolving the issue of delayed RANS-to-LES transition in separated shear layers in global hybrid RANS-LES approaches. Computations were carried out of two separated flows: a transonic flow past M 219 cavity and a subsonic flow over NASA wall mounted hump. Results of the computations suggest that the use of the SLA subgrid length-scale considerably accelerates transition to resolved three-dimensional turbulence in the separated shear layers and substantially improves agreement with the experimental data.

  15. Disaccharidase deficiency.

    Science.gov (United States)

    Bayless, T M; Christopher, N L

    1969-02-01

    This review of the literature and current knowledge concerning a nutritional disorder of disaccharidase deficiency discusses the following topics: 1) a description of disorders of disaccharide digestion; 2) some historical perspective on the laboratory and bedside advances in the past 10 years that have helped define a group of these digestive disorders; 3) a classification of conditions causing disaccharide intolerance; and 4) a discussion of some of the specific clinical syndromes emphasizing nutritional consequences of these syndromes. The syndromes described include congenital lactase deficiency, acquired lactase deficiency in teenagers and adults, acquired generalized disaccharidase deficiency secondary to diffuse mucosal damage, acquired lactose intolerance secondary to alterations in the intestinal transit, sucrase-isomaltase deficiencies, and other disease associations connected with lactase deficiency such as colitis.

  16. Parent Involvement in Meaningful Post-School Experiences for Young Adults with IDD and Pervasive Support Needs

    Science.gov (United States)

    Rossetti, Zachary; Lehr, Donna; Pelerin, Dana; Huang, Shuoxi; Lederer, Leslie

    2016-01-01

    Despite initiatives supporting young adults with intellectual and developmental disabilities (IDD) to engage in post-secondary education and integrated employment, those with more intensive support needs are not as easily involved in these post-school experiences. In an effort to learn from positive examples, we examined parent involvement in…

  17. The case for a national service for primary immune deficiency disorders in New Zealand.

    Science.gov (United States)

    Ameratunga, Rohan; Steele, Richard; Jordan, Anthony; Preece, Kahn; Barker, Russell; Brewerton, Maia; Lindsay, Karen; Sinclair, Jan; Storey, Peter; Woon, See-Tarn

    2016-06-10

    Primary immune deficiency disorders (PIDs) are rare conditions for which effective treatment is available. It is critical these patients are identified at an early stage to prevent unnecessary morbidity and mortality. Treatment of these disorders is expensive and expert evaluation and ongoing management by a clinical immunologist is essential. Until recently there has been a major shortage of clinical immunologists in New Zealand. While the numbers of trained immunologists have increased in recent years, most are located in Auckland. The majority of symptomatic PID patients require life-long immunoglobulin replacement. Currently there is a shortage of subcutaneous and intravenous immunoglobulin (SCIG/IVIG) in New Zealand. A recent audit by the New Zealand Blood Service (NZBS) showed that compliance with indications for SCIG/IVIG treatment was poor in District Health Boards (DHBs) without an immunology service. The NZBS audit has shown that approximately 20% of annual prescriptions for SCIG/IVIG, costing $6M, do not comply with UK or Australian guidelines. Inappropriate use may have contributed to the present shortage of SCIG/IVIG necessitating importation of the product. This is likely to have resulted in a major unnecessary financial burden to each DHB. Here we present the case for a national service responsible for the tertiary care of PID patients and oversight for immunoglobulin use for primary and non-haematological secondary immunodeficiencies. We propose that other PIDs, including hereditary angioedema, are integrated into a national PID service. Ancillary services, including the customised genetic testing service, and research are also an essential component of an integrated national PID service and are described in this review. As we show here, a hub-and-spoke model for a national service for PIDs would result in major cost savings, as well as improved patient care. It would also allow seamless transition from paediatric to adult services.

  18. Deficient prefrontal attentional control in late-life generalized anxiety disorder: an fMRI investigation.

    Science.gov (United States)

    Price, R B; Eldreth, D A; Mohlman, J

    2011-10-04

    Younger adults with anxiety disorders are known to show an attentional bias toward negative information. Little is known regarding the role of biased attention in anxious older adults, and even less is known about the neural substrates of any such bias. Functional magnetic resonance imaging (fMRI) was used to assess the mechanisms of attentional bias in late life by contrasting predictions of a top-down model emphasizing deficient prefrontal cortex (PFC) control and a bottom-up model emphasizing amygdalar hyperreactivity. In all, 16 older generalized anxiety disorder (GAD) patients (mean age=66 years) and 12 non-anxious controls (NACs; mean age=67 years) completed the emotional Stroop task to assess selective attention to negative words. Task-related fMRI data were concurrently acquired. Consistent with hypotheses, GAD participants were slower to identify the color of negative words relative to neutral, whereas NACs showed the opposite bias, responding more quickly to negative words. During negative words (in comparison with neutral), the NAC group showed PFC activations, coupled with deactivation of task-irrelevant emotional processing regions such as the amygdala and hippocampus. By contrast, GAD participants showed PFC decreases during negative words and no differences in amygdalar activity across word types. Across all participants, greater attentional bias toward negative words was correlated with decreased PFC recruitment. A significant positive correlation between attentional bias and amygdala activation was also present, but this relationship was mediated by PFC activity. These results are consistent with reduced prefrontal attentional control in late-life GAD. Strategies to enhance top-down attentional control may be particularly relevant in late-life GAD treatment.

  19. Phalloplasty: A panacea for 46,XY disorder of sex development conditions with penile deficiency?

    Science.gov (United States)

    Callens, Nina; Hoebeke, Piet

    2014-01-01

    In cases of severe penile inadequacy, such as in pathological conditions involving penile amputation (e.g. penile cancer), or in 46,XY disorders of sex development with severe undervirilization or maldevelopment of the penis (e.g. idiopathic micropenis, cloacal exstrophy), standard (surgical) penile lengthening techniques do not provide patients with a phallus suitable for sexual intercourse. Genital dissatisfaction can lead to low self-esteem and psychosexual dysfunction. Therefore, phalloplasty, the gold standard in transgender surgery, may provide a possibility to achieve a satisfactory genital appearance and sexual function. Small series have reported cosmetically acceptable and erogenous sensate neophalli with incorporation of a neourethra to allow voiding in a standing position and with enough bulk to allow penile prosthesis insertion for pleasurable intercourse. Although early results seem promising, further publication of series with large numbers and longer follow-up is needed to evaluate to what extent phalloplasty improves physical and sexual outcomes. Complications are of particular concern because of associated scarring and loss of sensitive tissue. Without full preoperative workups assessing patients' expectations and reasons for undergoing surgery, they may still struggle with self/penile image and with psychological barriers for engaging in sexual activity. Recommendations for the psychosocial management of boys and men with penile deficiency are suggested.

  20. 聚类分析法在碘缺乏病监测数据分析中的应用%Application of clustering analysis of data in iodine deficiency disorders surveillance

    Institute of Scientific and Technical Information of China (English)

    王涵; 陈晶; 李颖; 刘宁; 郭荣华; 王丹娜

    2008-01-01

    Objective To explore the application of clustering analysis in the study for iodine deficiency disorders(IDD)surveillance.Methods System cluster method of average linkage was applied to study the data obtained from national IDD surveilance in 2005 and a clustering analysis' tree chart was drawn.Such data as the rates of consuming qualified iodine salt,coverage rate of iodine salt,median of iodine salt,median urinary iodine,goiter rate detemined by palpation and B-uhrasonography,Child intelligence quotient were investigated.Results Thirty-one provinces or autonomous regions including the Xinjiang Production and Construction Coms had beed assorted into three types.Tibet was claasified into the type Ⅰ;Guangdong,Qinghai,Hainan,Sinkiang were assorted into the type Ⅱ,other areas were assorted into the typeⅢ.The rates of consuming qualified iodine salt,coverage rate of iodine salt and median urinary iodine in the type Ⅰ area were 21.00%,33.20%and 96.70 μg/L,while they were 71.95%,78.50%and 145.40μg/L,respectively,all being lower than that of type Ⅲ(93.20%.97.70%and 245.20μg/L)with statistical significance(P<0.05).11.50%of the children in the type Ⅰ area were detected by palpation to have goiter;the child intelligence quotient in three types of areas,was 77.00,95.95±4.46 and 104.59±6.77,the differences being statistical significant between any two types(P<0.05).Conclusion Multiple areas of IDD could be assorted by clustering analysis into distinct types with different epidemic value.More attentions of the government must be paid to the type Ⅱ areas,the prevention and cure work must be enhanced in the second-class areas while it is carried on in the typeⅢareas.The results are helpful for decision making for epidemic supervisors in the government.%目的 探索聚类分析在碘缺乏病监测数据分析中的应用.方法 采用聚类分析方法,对2005年全国碘缺乏病监测结果按合格碘盐食用率、碘盐覆盖率、盐碘中位数

  1. Pseudodementia in a twenty-one-year-old with bipolar disorder and vitamin B12 and folate deficiency.

    Science.gov (United States)

    Reid, S D

    2000-12-01

    A twenty-one-year-old female known to suffer from bipolar type I disorder developed features of a pseudodementia. Following prompt initial response to treatment with antidepressants, there was an early recurrence of cognitive impairment. Blood investigations confirmed a macrocytic anaemia and vitamin B12 and folate deficiencies. There was dramatic resolution of cognitive impairment after vitamin replacement. This suggested the occurrence of a reversible nutritional dementia and reinforced the need to rule out secondary organic causes of psychiatric symptoms even in patients previously diagnosed with a primary psychiatric disorder.

  2. Analysis of the county-level evaluation results after reaching the goal of eliminating iodine deficiency disorders in Longyan city, Fujian province in 2009%2009年福建省龙岩市实现消除碘缺乏病目标县级考评结果分析

    Institute of Scientific and Technical Information of China (English)

    陈建安; 蓝永贵; 陈惠琴; 阮雪玲; 周志鹏

    2011-01-01

    Objective To understand the current situation of iodine deficient disorder(IDD) 10 years after achieving the stage goal of eliminating IDD in Longyan city and to evaluate the effect of prevention and treatment measures, and to provide the basis for the development of control strategies. Methods There were 7 counties in the city, and each county(city, district) was as a unit to carry out the inspection for organization and leadership,iodine salt management, monitoring and control, health education (referred to as the four management indicators)according to "The County-Level Assessment and Evaluation Implementation Detailed Rules of Realizing the Goal to Eliminate IDD in Fujian Province". According to the east, west, south, north and middle positions in each county,a village and a primary school were selected. Forty 8 to 10 year-old students in each school were randomly selected to check thyroid and among them 20 students were collected urine samples to determine urinary iodine. Nine townships were selected in the 7 counties of the city and among which 4 administrative villages were selected in each township. Eight edible salt samples from each household in each administrative village were collected to test salt iodine. Goiter was examined by palpation, the level of urinary iodine was examined by arsenic and cerium spectrophotometry, salt iodine was detected by direct titration. Results The average score of the four management indicators was 94.1 in Longyan city. The adjusted goiter rate of children aged 8 - 10 years old was 1.9%. The median of urinary iodine was 278.6 μg/L, among which less than 100 μg/L accounted for 4.57%(32/700), 100 -< 200 μg/L accounted for 24.00%(168/700), 200 - < 300 μg/L accounted for 25.29%(177/700), and higher than 300 μg/L accounted for 46.14%(323/700). The using rate of qualified iodized salt was 98.86%. The coverage rate of iodized salt was 99.50%, the qualified rate of iodized salt was 99.35%, and the rate of non-iodized salt

  3. Intact reflexive but deficient voluntary social orienting in autism spectrum disorder

    Directory of Open Access Journals (Sweden)

    Megan Anne Kirchgessner

    2015-12-01

    Full Text Available Impairment in social interactions is a primary characteristic of people diagnosed with autism spectrum disorder (ASD. Although these individuals tend to orient less to naturalistic social cues than do typically developing (TD individuals, laboratory experiments testing social orienting in ASD have been inconclusive, possibly because of a failure to fully isolate reflexive (stimulus-driven and voluntary (goal-directed social orienting processes. The purpose of the present study was to separately examine potential reflexive and/or voluntary social orienting differences in individuals with ASD relative to TD controls. Subjects (ages 7-14 with high-functioning ASD and a matched control group completed three gaze cueing tasks on an iPad in which individuals briefly saw a face with averted gaze followed by a target after a variable delay. Two tasks were 100% predictive with either all congruent (target appears in gaze direction or all incongruent (target appears opposite from gaze direction trials, respectively. Another task was non-predictive with these same trials (half congruent and half incongruent intermixed randomly. Response times (RTs to the target were used to calculate reflexive (incongruent condition RT – congruent condition RT and voluntary (non-predictive condition RT – predictive condition RT gaze cueing effects. Subjects also completed two additional non-social orienting tasks (ProPoint and AntiPoint. Subjects with ASD demonstrate intact reflexive but deficient voluntary gaze following. Similar results were found in a separate test of non-social orienting. This suggests problems with using social cues, but only in a goal-directed fashion, in our sample of high-functioning individuals with ASD. Such findings may not only explain inconclusive previous findings but more importantly be critical for understanding social dysfunctions in ASD and for developing future interventions.

  4. Bacterial Wilt and Boron Deficiency Stress: A New Disorder in Eucalypt Plantations in South China

    Institute of Scientific and Technical Information of China (English)

    DELL Bernard; XU Daping

    2006-01-01

    This paper reports on a new disorder that first appeared in eucalypt plantations in south China in 2003. The plantations were destructively sampled near Leizhou, Yanxi, Kaiping and Gaoyao in September to December 2003. Whilst some 5% of 0.5 to 1.5 year-old Eucalyptus urophylla trees declined rapidly and exhibited symptoms of wilting, the majority of the affected trees declined slowly and exhibited two foliar symptoms. Young leaves initially developed an interveinal chlorosis extending from the leaf margin inwards to the midrib. Most leaves then developed pockets of necrotic tissue that became bleached but typically had brown margins. The former symptoms have been recognised as being caused by limited boron supply in soil, but the latter symptoms have not been previously observed in eucalypts in China. Inorganic analysis showed that the leaves with the latter symptoms had deficient B concentrations whereas the leaves from healthy trees had adequate B concentrations. Bacterial wilt, Ralstonia solanacearum, was present at all sites where foliar symptoms and tree death were present. The root system of all trees with foliar chlorosis and necrosis had signs of infection in some roots and attrition of lateral roots. The trunk and branches of the recently died trees and the trees with advanced leaf drop had discoloured xylem, which on cutting, oozed bacterial slime. Possible relationships between root damage caused by abiotic (e.g. typhoons, root damage from hand weeding) and biotic factors and reduced B uptake are discussed. Recommendations are made for reducing bacterial wilt disease and improving B management in fast-growing short-rotation eucalypt plantations.

  5. Eliminating Iodine Deficiency in China: Achievements, Challenges and Global Implications

    Science.gov (United States)

    Sun, Dianjun; Codling, Karen; Chang, Suying; Zhang, Shubin; Shen, Hongmei; Su, Xiaohui; Chen, Zupei; Scherpbier, Robert W.; Yan, Jun

    2017-01-01

    The prevention of iodine deficiency through salt iodization has been recognized as a global success story, and China stands at the forefront of this achievement with one of the most successful programs in the world. High level political commitment, national mandatory legislation, a state-managed edible salt industry and a complex and highly sophisticated surveillance system have facilitated the success of the program. Challenges have arisen however, including: (i) concern that adequate iodine status in pregnant women cannot be achieved without causing above adequate iodine intakes in children; (ii) declining iodine intake as a result of reductions in salt consumption and increased consumption of processed foods, which may not be made with iodized salt; (iii) the existence of areas with high iodine content in the water; and (iv) declines in household use of iodized salt due to concerns about excess iodine intake and thyroid disease. This article reviews the achievements and challenges of the Chinese Iodine Deficiency Disorders (IDD) Elimination Program and reflects on lessons learned and implications for other national salt iodization programs. PMID:28379180

  6. Pitx3 deficient mice as a genetic animal model of co-morbid depressive disorder and parkinsonism.

    Science.gov (United States)

    Kim, Kyoung-Shim; Kang, Young-Mi; Kang, Young; Park, Tae-Shin; Park, Hye-Yeon; Kim, Yoon-Jung; Han, Baek-Soo; Kim, Chun-Hyung; Lee, Chul-Ho; Ardayfio, Paul A; Han, Pyung-Lim; Jung, Bong-Hyun; Kim, Kwang-Soo

    2014-03-13

    Approximately 40-50% of all patients with Parkinson׳s disease (PD) show symptoms and signs of depressive disorders, for which neither pathogenic understanding nor rational treatment are available. Using Pit3x-deficient mice, a model for selective nigrostriatal dopaminergic neurodegeneration, we tested depression-related behaviors and acute stress responses to better understand how a nigrostriatal dopaminergic deficit increases the prevalence of depressive disorders in PD patients. Pitx3-deficient mice showed decreased sucrose consumption and preference in the two-bottle free-choice test of anhedonia. Acute restraint stress increased c-Fos (known as a neuronal activity marker) expression levels in various brain regions, including the prefrontal cortex, striatum, nucleus accumbens, and paraventricular nucleus of the hypothalamus (PVN), in both Pitx3+/+ and -/- mice. However, the stress-induced increases in c-Fos levels in the cortex, dorsal striatum, and PVN were significantly greater in Pitx3-/- than +/+ mice, suggesting that signs of depressive disorders in parkinsonism are related to altered stress vulnerability. Based on these results, we propose that Pitx3-/- mice may serve as a useful genetic animal model for co-morbid depressive disorder and parkinsonism.

  7. Prolidase deficiency

    Directory of Open Access Journals (Sweden)

    Masood Qazi

    2007-01-01

    Full Text Available Prolidase deficiency is a rare inborn disorder of collagen metabolism characterized by chronic recurrent skin ulceration. A seven-year-old girl and her younger sibling with clinical features and laboratory criteria fulfilling the diagnosis of prolidase deficiency are presented in view of rarity of the condition.

  8. Iodine Deficiency

    NARCIS (Netherlands)

    Zimmermann, M.B.

    2009-01-01

    Iodine deficiency has multiple adverse effects in humans, termed iodine deficiency disorders, due to inadequate thyroid hormone production. Globally, it is estimated that 2 billion individuals have an insufficient iodine intake, and South Asia and sub-Saharan Africa are particularly affected. Howeve

  9. Iodine Deficiency

    NARCIS (Netherlands)

    Zimmermann, M.B.

    2009-01-01

    Iodine deficiency has multiple adverse effects in humans, termed iodine deficiency disorders, due to inadequate thyroid hormone production. Globally, it is estimated that 2 billion individuals have an insufficient iodine intake, and South Asia and sub-Saharan Africa are particularly affected. Howeve

  10. Study and application about a modality preventing iodine deficiency disorders in coastal salt-produced areas%沿海产盐区碘缺乏病防治模式研究与应用

    Institute of Scientific and Technical Information of China (English)

    戴龙; 刘德发; 张亚平; 苏惠健; 张燕峰

    2008-01-01

    disorders (IDD)control in coastal salt.producing areas so as to shoot the problem of non-iodized salt causing IDD.Methods Accordinng to different areas,periods and crowds,eomplicatd measures and strategies were taken such as supply of iodized salt to peopie in special need while universalizaion of iodized salt,health promotion,private salt factory censu8 and close.iodized salt quality monitoring and promotion of technology of iodized salt producion in Xiamen, where the probiem of non-iodized salt Was serious since 1995.Results Iodized salt manufactured Was qualified in a increased rate from 89.50% in 1995 to 96.17% in 1997,stablized at 99.00%since 2000.Qualified iodized salt sold in the shops waft increased from 87.33%in 1996 to 96.33%in 1998.Popularization covered by iodized salt in urban areas increaased from 0.92%in 1 995 to 100.00%in 2000,and it Was increased from 0 to 99.00%in suburban area8 and increased from 0 to 89.00%in rural areas.Since 2001 iodized salt covered up 93.00%of the people.The rate of child goitre in urban,suburban and rural areas respectively Wag 16.44%(228/1387), 20.57%(266/1293) and 24.93%(651/2611).Moreover,beginning from 1996,it reduced tO below of 5.00%respectively in 1999,2001 and 2005.The median of urinary iodine of children in urban,suburban and rural areas respectively was 137.50, 102.12,94.66 μg/L in 1995,since 1997 it reached 100.00μg/L and kept at 120.00μg/L In 2007 the median of urinarv iedine of children respectively was 271.10,240.40,198.10μg/L in urban,suburban and rural areas.The pereentage of awareness of IDD knowledge was 74.00%(444/600)in students in 1997 and reached 95.00% since 2000.Conclusion The paRern of eliminating iodine deficiency dis ease in Xiamen has successful established,which works efficiently and sets an example for iodized salt supplement in non-iodized salt areas and continually eliminating the iodine deficiency disease.

  11. Iron, Magnesium, Vitamin D, and Zinc Deficiencies in Children Presenting with Symptoms of Attention-Deficit/Hyperactivity Disorder

    Directory of Open Access Journals (Sweden)

    Amelia Villagomez

    2014-09-01

    Full Text Available Attention-Deficit/Hyperactivity Disorder (ADHD is a neurodevelopmental disorder increasing in prevalence. Although there is limited evidence to support treating ADHD with mineral/vitamin supplements, research does exist showing that patients with ADHD may have reduced levels of vitamin D, zinc, ferritin, and magnesium. These nutrients have important roles in neurologic function, including involvement in neurotransmitter synthesis. The aim of this paper is to discuss the role of each of these nutrients in the brain, the possible altered levels of these nutrients in patients with ADHD, possible reasons for a differential level in children with ADHD, and safety and effect of supplementation. With this knowledge, clinicians may choose in certain patients at high risk of deficiency, to screen for possible deficiencies of magnesium, vitamin D, zinc, and iron by checking RBC-magnesium, 25-OH vitamin D, serum/plasma zinc, and ferritin. Although children with ADHD may be more likely to have lower levels of vitamin D, zinc, magnesium, and iron, it cannot be stated that these lower levels caused ADHD. However, supplementing areas of deficiency may be a safe and justified intervention.

  12. Elevated systemic glutamic acid level in the non-obese diabetic mouse is Idd linked and induces beta cell apoptosis.

    Science.gov (United States)

    Banday, Viqar Showkat; Lejon, Kristina

    2017-02-01

    Although type 1 diabetes (T1D) is a T-cell-mediated disease in the effector stage, the mechanism behind the initial beta cell assault is less understood. Metabolomic differences, including elevated levels of glutamic acid, have been observed in patients with T1D before disease onset, as well as in pre-diabetic non-obese diabetic (NOD) mice. Increased levels of glutamic acid damage both neurons and beta cells, implying that this could contribute to the initial events of T1D pathogenesis. We investigated the underlying genetic factors and consequences of the increased levels of glutamic acid in NOD mice. Serum glutamic acid levels from a (NOD×B6)F2 cohort (n = 182) were measured. By genome-wide and Idd region targeted microsatellite mapping, genetic association was detected for six regions including Idd2, Idd4 and Idd22. In silico analysis of potential enzymes and transporters located in and around the mapped regions that are involved in glutamic acid metabolism consisted of alanine aminotransferase, glutamic-oxaloacetic transaminase, aldehyde dehydrogenase 18 family, alutamyl-prolyl-tRNA synthetase, glutamic acid transporters GLAST and EAAC1. Increased EAAC1 protein expression was observed in lysates from livers of NOD mice compared with B6 mice. Functional consequence of the elevated glutamic acid level in NOD mice was tested by culturing NOD. Rag2(-/-) Langerhans' islets with glutamic acid. Induction of apoptosis of the islets was detected upon glutamic acid challenge using TUNEL assay. Our results support the notion that a dysregulated metabolome could contribute to the initiation of T1D. We suggest that targeting of the increased glutamic acid in pre-diabetic patients could be used as a potential therapy.

  13. Endemic goiter in School Children in Southwestern Ethiopia

    African Journals Online (AJOL)

    Abstract. Background: Iodine deficiency disorder (IDD) is a serious threat to the health and well being of people residing in ... come to regard their entire population as at risk of IDD. (3). ... are among the environmental and nutritional factors.

  14. Presumed competence reflected in the educational programs of students with IDD before and after the Beyond Access professional development intervention.

    Science.gov (United States)

    Jorgensen, Cheryl M; McSheehan, Michael; Sonnenmeier, Rae M

    2007-12-01

    Judgements about students' competence influence the goals of their individualised education programs (IEPs), the location of service delivery, and their placement in general education (GE) as opposed to special education (SE) classes. The purpose of this study was to describe how presumed competence to learn the GE curriculum was reflected in the IEPs of students with intellectual and developmental disabilities (IDD), and in the reported percentage of time that these students spent in GE classes prior to and following the Beyond Access professional development intervention. Five educational teams of students with IDD participated in a professional development intervention that emphasised students' presumed competence to learn grade-level GE curriculum. Students' pre- and post-intervention IEPs were qualitatively analysed and team member reports of percentage time spent in GE classes were averaged. Five categories of presumed competence were identified. Following intervention, emphasis on learning the GE curriculum, a shift in location of service delivery from outside to within the GE classroom, and increased time spent in GE classes were reported. The Beyond Access intervention shows promise for enhancing views of the competence of students with IDD to learn the GE curriculum and for increasing their inclusion in GE classrooms.

  15. Trim37-deficient mice recapitulate several features of the multi-organ disorder Mulibrey nanism

    Directory of Open Access Journals (Sweden)

    Kaisa M. Kettunen

    2016-05-01

    Full Text Available Mulibrey nanism (MUL is a rare autosomal recessive multi-organ disorder characterized by severe prenatal-onset growth failure, infertility, cardiopathy, risk for tumors, fatty liver, and type 2 diabetes. MUL is caused by loss-of-function mutations in TRIM37, which encodes an E3 ubiquitin ligase belonging to the tripartite motif (TRIM protein family and having both peroxisomal and nuclear localization. We describe a congenic Trim37 knock-out mouse (Trim37−/− model for MUL. Trim37−/− mice were viable and had normal weight development until approximately 12 months of age, after which they started to manifest increasing problems in wellbeing and weight loss. Assessment of skeletal parameters with computer tomography revealed significantly smaller skull size, but no difference in the lengths of long bones in Trim37−/− mice as compared with wild-type. Both male and female Trim37−/− mice were infertile, the gonads showing germ cell aplasia, hilus and Leydig cell hyperplasia and accumulation of lipids in and around Leydig cells. Male Trim37−/− mice had elevated levels of follicle-stimulating and luteinizing hormones, but maintained normal levels of testosterone. Six-month-old Trim37−/− mice had elevated fasting blood glucose and low fasting serum insulin levels. At 1.5 years Trim37−/− mice showed non-compaction cardiomyopathy, hepatomegaly, fatty liver and various tumors. The amount and morphology of liver peroxisomes seemed normal in Trim37−/− mice. The most consistently seen phenotypes in Trim37−/− mice were infertility and the associated hormonal findings, whereas there was more variability in the other phenotypes observed. Trim37−/− mice recapitulate several features of the human MUL disease and thus provide a good model to study disease pathogenesis related to TRIM37 deficiency, including infertility, non-alcoholic fatty liver disease, cardiomyopathy and tumorigenesis.

  16. Cobalamin deficiency resulting in a rare haematological disorder: a case report

    Directory of Open Access Journals (Sweden)

    Chapuis Thomas M

    2009-10-01

    Full Text Available Abstract Introduction We present the case of a patient with a cobalamin deficiency resulting in pancytopaenia, emphasizing the importance to define, diagnose and treat cobalamin deficiency. Case presentation A 52-year-old man from the Democratic Republic of Congo presented to the emergency department with shortness of breath and a sore tongue. Physical examination was unremarkable. His haemoglobin was low and the peripheral blood smear revealed pancytopaenia with a thrombotic microangiopathy. The findings were low cobalamin and folate levels, and high homocysteine and methylmalonate levels. Pernicious anaemia with chronic atrophic gastritis was confirmed by gastric biopsy and positive antiparietal cell and anti-intrinsic factor antibodies. Cobalamin with added folate was given. Six months later, the patient was asymptomatic. Conclusion Cobalamin deficiency should always be ruled out in a patient with pancytopaenia. Our case report highlights a life-threatening cobalamin deficiency completely reversible after treatment.

  17. First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

    NARCIS (Netherlands)

    M.M.C. Wamelink (Mirjam); R.J.J.F. Ramos (Ruben J. J. F.); A.P.M. van den Elzen (Annette P. M.); G.J.G. Ruijter (George); R. Bonte (Ramon); L. Diogo (Luisa); P. Garcia (Paula); N. Neves (Nelson); B. Nota (Benjamin); A. Haschemi (Arvand); I. Tavares de Almeida (Isabel); G.S. Salomons (Gajja)

    2015-01-01

    textabstractWe present the first two reported unrelated patients with an isolated sedoheptulokinase (SHPK) deficiency. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis multiplex, multiple contractures,

  18. Work of the Polish Council for Control of Iodine Deficiency Disorders, and the model of iodine prophylaxis in Poland.

    Science.gov (United States)

    Szybiński, Zbigniew

    2012-01-01

    The Polish Council for Control of Iodine Deficiency Disorders (PCCIDD) was established in 1991 in Krakow at the Chair and Dept. of Endocrinology, Jagiellonian University, Collegium Medicum, following the example of the International Council for Control of Iodine Deficiency Disorders (ICCIDD) in Charlottesville, USA. The PCCIDD co-operates with the European Co-ordinating Centre in Pisa, Italy. The PCCIDD comprises a group of experts in endocrinology, iodine prophylaxis, the technology of salt and food iodisation, and Polish representatives of several organisations: WHO, UNICEF, the Polish Consumers Federation, and the Spokesman for Children's Rights. The strategic goal of the Polish Council is to solve the problem of iodine deficiency in Poland realising the Programme for Elimination of Iodine Deficiency financed by the Ministry of Health. The Polish model of iodine prophylaxis contains obligatory iodisation of household salt (20-40 mg KI/1 kg) and neonates' formula (10 μg/100 mL of milk), and additional supplementation for pregnant and breastfeeding women with 150-200 μg of iodine as pharmacotherapy. The model is very effective: endemic goitre in schoolchildren has been eradicated, the prevalence of goitre in pregnant women has fallen from 80% to 19%, the frequency of transient hypothyroidism in neonates has dropped from 2.0% to 0.16%, and the observed increase of incidence rate of thyroid cancer in women over 40 years old has diminished markedly. In 2008, a WHO Collaborating Centre (WHOCC) for Nutrition was designated at the Department of Endocrinology, UJCM in Krakow. The main goal of the WHOCC is to sustain effective iodine prophylaxis in Poland in the light of the latest WHO recommendations on the necessary reduction of daily salt intake as a risk factor for hypertension and arteriosclerosis. Therefore, additional standardised carriers of iodine (milk, mineral water) have been introduced into the food market.

  19. N-acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication.

    Science.gov (United States)

    Schubiger, G; Bachmann, C; Barben, P; Colombo, J P; Tönz, O; Schüpbach, D

    1991-03-01

    We report the 9-year follow-up of a patient suffering from N-acetylglutamate synthetase deficiency, an urea cycle disorder leading to severe neonatal hyperammonaemia. Hitherto two patients from two families with this inborn error of metabolism had been observed. Our management consisted mainly of a protein-restricted diet and oral treatment with N-carbamylglutamate, an activator of carbamylphosphate synthetase, together with arginine or citrulline. The somatic development was normal whereas a moderate psychomotor retardation was diagnosed. The patient died after an episode of coma and prolonged generalized convulsions at the age of 9.5 years.

  20. Mood disorder with mixed, psychotic features due to vitamin b12 deficiency in an adolescent: case report

    Directory of Open Access Journals (Sweden)

    Tufan Ali

    2012-06-01

    Full Text Available Abstract Vitamin B12 is one of the essential vitamins affecting various systems of the body. Reports of psychiatric disorders due to its deficiency mostly focus on middle aged and elderly patients. Here we report a case of vitamin B 12 deficiency in a 16-year old, male adolescent who presented with mixed mood disorder symptoms with psychotic features. Chief complaints were “irritability, regressive behavior, apathy, crying and truancy” which lasted for a year. Premorbid personality was unremarkable with no substance use/exposure or infections. No stressors were present. The patient was not vegetarian. Past medical history and family history was normal. Neurological examination revealed glossitis, ataxia, rigidity in both shoulders, cog-wheel rigidity in the left elbow, bilateral problems of coordination in cerebellar examination, reduced swinging of the arms and masked face. Romberg’s sign was present. Laboratory evaluations were normal. Endoscopy and biopsy revealed atrophy of the gastric mucosa with Helicobacter Pylori colonization. Schilling test was suggestive of malabsorbtion. He was diagnosed with Mood disorder with Mixed, Psychotic Features due to Vitamin B12 Deficiency and risperidone 0.5 mg/day and intramuscular vitamin B12 500 mcg/day were started along with referral for treatment of Helicobacter pylori. A visit on the second week revealed no psychotic features. Romberg’s sign was negative and cerebellar tests were normal. Extrapyramidal symptoms were reduced while Vitamin B12 levels were elevated. Risperidone was stopped and parenteral Vitamin B12 treatment was continued with monthly injections for 3 months. Follow-up endoscopy and biopsy at the first month demonstrated eradication of H. pylori. He was followed monthly for another 6 months and psychiatric symptoms did not recur at the time of last evaluation. Despite limitations, this case may underline the observation that mood disorders with psychotic features

  1. Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder

    NARCIS (Netherlands)

    W.G. Leen (Wilhelmina); J. Klepper (Joerg); M.M. Verbeek (Marcel); M. Leferink (Maike); T. Hofste (Tom); B.G.M. van Engelen (Baziel); R.A. Wevers (Ron); T. Arthur (Todd); N. Bahi-Buisson (Nadia); D. Ballhausen (Diana); J. Bekhof (Jolita); P. van Bogaert (Patrick); I. Carrilho (Inês); B. Chabrol (Brigitte); M.P. Champion (Michael); J. Coldwell (James); P. Clayton (Peter); E. Donner (Elizabeth); A. Evangeliou (Athanasios); F. Ebinger (Friedrich); K. Farrell (Kevin); R.J. Forsyth (Rob); C.G.E.L. de Goede (Christian); S. Gross (Stephanie); S. Grünewald (Sonja); H. Holthausen (Hans); S. Jayawant (Sandeep); K. Lachlan (Katherine); V. Laugel (Vincent); K. Leppig (Kathy); M.J. Lim (Ming); G.M.S. Mancini (Grazia); A.D. Marina; L. Martorell (Loreto); J. McMenamin (Joe); M.E.C. Meuwissen (Marije); H. Mundy (Helen); N.O. Nilsson (Nils); A. Panzer (Axel); B.T. Poll-The; C. Rauscher (Christian); C.M.R. Rouselle (Christophe); I. Sandvig (Inger); T. Scheffner (Thomas); E. Sheridan (Eamonn); N. Simpson (Neil); P. Sykora (Parol); R. Tomlinson (Richard); J. Trounce (John); D.W.M. Webb (David); B. Weschke (Bernhard); H. Scheffer (Hans); M.A. Willemsen (Michél)

    2010-01-01

    textabstractGlucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing an

  2. Glucose transporter-1 deficiency syndrome : the expanding clinical and genetic spectrum of a treatable disorder

    NARCIS (Netherlands)

    Leen, Wilhelmina G.; Klepper, Joerg; Verbeek, Marcel M.; Leferink, Maike; Hofste, Tom; van Engelen, Baziel G.; Wevers, Ron A.; Arthur, Todd; Bahi-Buisson, Nadia; Ballhausen, Diana; Bekhof, Jolita; van Bogaert, Patrick; Carrilho, Ines; Chabrol, Brigitte; Champion, Michael P.; Coldwell, James; Clayton, Peter; Donner, Elizabeth; Evangeliou, Athanasios; Ebinger, Friedrich; Farrell, Kevin; Forsyth, Rob J.; de Goede, Christian G. E. L.; Gross, Stephanie; Grunewald, Stephanie; Holthausen, Hans; Jayawant, Sandeep; Lachlan, Katherine; Laugel, Vincent; Leppig, Kathy; Lim, Ming J.; Mancini, Grazia; Della Marina, Adela; Martorell, Loreto; McMenamin, Joe; Meuwissen, Marije E. C.; Mundy, Helen; Nilsson, Nils O.; Panzer, Axel; Poll-The, Bwee T.; Rauscher, Christian; Rouselle, Christophe M. R.; Sandvig, Inger; Scheffner, Thomas; Sheridan, Eamonn; Simpson, Neil; Sykora, Parol; Tomlinson, Richard; Trounce, John; Webb, David; Weschke, Bernhard; Scheffer, Hans; Willemsen, Michel A.

    2010-01-01

    Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex

  3. Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany.

    Science.gov (United States)

    Gramer, Gwendolyn; Abdoh, Ghassan; Ben-Omran, Tawfeg; Shahbeck, Noora; Ali, Rehab; Mahmoud, Laila; Fang-Hoffmann, Junmin; Hoffmann, Georg F; Al Rifai, Hilal; Okun, Jürgen G

    2017-04-01

    Newborn screening is a precondition for early diagnosis and successful treatment of remethylation disorders and classical homocystinuria (cystathionine-ß-synthase deficiency). Newborn screening for classical homocystinuria using total homocysteine measurement in dried blood spots has been very successfully performed for many years for newborns from Qatar. A new optimized newborn screening strategy for remethylation disorders and homocystinuria was developed and evaluated for newborns from Qatar using total homocysteine measurement as first-tier and methionine, methionine-phenylalanine-ratio and propionylcarnitine as second-tiers. Proposed cut-offs were also retrospectively evaluated in newborn screening samples of 12 patients with remethylation disorders and vitamin B12 deficiency from Qatar and Germany. Over a 12 months period, the proposed strategy led to a decrease in the recall rate in homocysteine screening for Qatar from 1.09% to 0.68%, while allowing for additional systematic inclusion of remethylation disorders and vitamin B12 deficiency into the screening panel for Qatar. In the evaluated period the applied strategy would have detected all patients with classical homocystinuria identified by the previous strategy and in addition 5 children with maternal nutritional vitamin B12 deficiency and one patient with an isolated remethylation disorder. Additional retrospective evaluation of newborn screening samples of 12 patients from Germany and Qatar with remethlyation disorders or vitamin B12 deficiency showed that all of these patients would have been detected by the cut-offs used in the proposed new strategy. In addition, an adapted strategy for Germany using methionine, methionine-phenylalanine-ratio and propionylcarnitine as first-tier, and homocysteine as a second-tier test was also positively evaluated retrospectively. The proposed strategy for samples from Qatar allows inclusion of remethylation disorders and vitamin B12 deficiency in the screening

  4. 2011年新疆生产建设兵团碘缺乏病防治效果评价%An evaluation of the effectiveness of control measures on iodine deficiency disorders in Xinjiang Production and Construction Corps in 2011

    Institute of Scientific and Technical Information of China (English)

    李雪琪; 马晓玲; 王立杰; 李凡卡

    2014-01-01

    Objective To evaluate the effectiveness of control and prevention of iodine deficiency disorders(IDD) in Xinjiang Production and Construction Corps. Methods According to the national requirement and the situation of Xinjiang Production and Construction Corps, thirty sampling units were selected by the“probability proportionate to size” method; one school was chosen in each sampling unit; forty children (half male half female) aged 8 - 10 years old were chosen in each school. Family salt samples were collected to detect salt iodine content, and the goiter was determined. Twelve children(half male half female) from the 40 children were selected; urine samples were collected to detect urinary iodine content. Twenty fifth-grade children in each school and five housewives around each school were selected, and the survey of health education knowledge was conducted. Salt iodine was measured using direct titration (GB/T 13025.7-1999);the volume of thyroid was detected by ultrasound ( WS 276-2007 ); urinary iodine was measured by arsenic Ce catalytic spectrophotometry method (WS/T 107-2006). Results A total of 1 195 household salt samples were tested. The mean of salt iodine was (30.91 ± 6.99)mg/kg;the coverage rate of iodized salt was 97.49%(1 165/ 1 195);the qualified rate of iodized salt was 98.54%(1 148/1 165); and the consumption rate of qualified iodized salt was 96.07%(1 148/1 195). Twelve hundred and twenty children aged 8-10 years old were examined;forty-two goiters were examined;and goiter rate was 3.44%. Four hundred and seven urine samples were tested, the median of urinary iodine was 235.31 μg/L;< 50 μg/L accounted for 1.47%(6/407); and 50 - < 100 μg/L accounted for 6.63%(27/407). The awareness rates of IDD health education knowledge of the fifth-grade students and housewives were 84.39%(1 519/1 800) and 84.44%(380/450), respectively. Conclusion The level of IDD control and prevention in Xinjiang Production and Construction Corps has been up to the

  5. The effects of health education on iodine deficiency disorders comprehensively evaluated with the TOPSIS method in 2009-2013%TOPSIS法综合评价陕西省2009-2013年碘缺乏病健康教育效果

    Institute of Scientific and Technical Information of China (English)

    陈平; 杨利婷; 段刚; 师智; 刘洁; 戴宏星; 冯清华; 杨培荣

    2016-01-01

    Objective TOPSIS was used to analyze and evaluate the effects of health education on iodine deficiency disorders from 2009 to 2013 in Shaanxi Province,and provide a basis to further improve the effects of health education on iodine deficiency disorders.Methods Data were collected from annual reports of Shaanxi Province health education on iodine deficiency disorders,TOPSIS was used to comprehensively evaluate and analyze the effects of health education on iodine deficiency disorders.There were totally 10 indicators:the number of primary school which had implemented the health education on iodine deficiency disorders,the difference of students'awareness rate,the number of village which had carried out housewife IDD health education,the difference of housewives' awareness rate,the number of radio,television broadcasting on popular science program and public service ads,the number of health education brochures,foldings and other promotional materials,the number of articles published on newspapers and periodicals,the number of posting banners,the number of propaganda columns,and the number of publicity and consultation activities.The evaluation was carried out in three aspects that were the number of schools (villages) that carried out the health education projects,the students' and housewives'iodine deficiency prevention knowledge and the awareness of health education measures.Excel 2010 was used for data collection and analysis.Results Iodine deficiency disorders health education projects were carried out yearly in 108 towns from 36 counties (districts) in 10 cities of Shaanxi Province from 2009 to 2013.Evaluated by TOPSIS,the relative proximity of the work quality and the optimal scheme of the iodine deficiency health education in Shaanxi Province from 2009 to 2013 was 0.038 2,0.249 7,0.908 5,0.437 9 and 0.856 4,respectively.The ideal quality of health education on iodine deficiency disorders was in 2011,and the lower quality was in 2009,which was consistent with

  6. Altered synaptic phospholipid signaling in PRG-1 deficient mice induces exploratory behavior and motor hyperactivity resembling psychiatric disorders.

    Science.gov (United States)

    Schneider, Patrick; Petzold, Sandra; Sommer, Angela; Nitsch, Robert; Schwegler, Herbert; Vogt, Johannes; Roskoden, Thomas

    2017-08-24

    Plasticity related gene 1 (PRG-1) is a neuron specific membrane protein located at the postsynaptic density of glutamatergic synapses. PRG-1 modulates signaling pathways of phosphorylated lipid substrates such as lysophosphatidic acid (LPA). Deletion of PRG-1 increases presynaptic glutamate release probability leading to neuronal over-excitation. However, due to its cortical expression, PRG-1 deficiency leading to increased glutamatergic transmission is supposed to also affect motor pathways. We therefore analyzed the effects of PRG-1 function on exploratory and motor behavior using homozygous PRG-1 knockout (PRG-1(-/-)) mice and PRG-1/LPA2-receptor double knockout (PRG-1(-/-)/LPA2(-/-)) mice in two open field settings of different size and assessing motor behavior in the Rota Rod test. PRG-1(-/-) mice displayed significantly longer path lengths and higher running speed in both open field conditions. In addition, PRG-1(-/-) mice spent significantly longer time in the larger open field and displayed rearing and self-grooming behavior. Furthermore PRG-1(-/-) mice displayed stereotypical behavior resembling phenotypes of psychiatric disorders in the smaller sized open field arena. Altogether, this behavior is similar to the stereotypical behavior observed in animal models for psychiatric disease of autistic spectrum disorders which reflects a disrupted balance between glutamatergic and GABAergic synapses. These differences indicate an altered excitation/inhibition balance in neuronal circuits in PRG-1(-/-) mice as recently shown in the somatosensory cortex [38]. In contrast, PRG-1(-/-)/LPA2(-/-) did not show significant changes in behavior in the open field suggesting that these specific alterations were abolished when the LPA2-receptor was lacking. Our findings indicate that PRG-1 deficiency led to over-excitability caused by an altered LPA/LPA2-R signaling inducing a behavioral phenotype typically observed in animal models for psychiatric disorders. Copyright

  7. External quality assessment of platelet disorder investigations: results of international surveys on diagnostic tests for dense granule deficiency and platelet aggregometry interpretation.

    Science.gov (United States)

    Hayward, Catherine P M; Moffat, Karen A; Plumhoff, Elizabeth; Timleck, Marnie; Hoffman, Suzanne; Spitzer, Ernie; Van Cott, Elizabeth M; Meijer, Piet

    2012-09-01

    The quality of platelet aggregation and dense granule deficiency testing is important for diagnosing platelet function disorders. After a successful pilot exercise on diagnosing platelet dense granule deficiency by electron microscopy (EM), the North American Specialized Coagulation Laboratory Association (NASCOLA) has launched regular external quality assurance (EQA) for dense granule EM, as well as for the interpretation of platelet aggregation findings. EQA records were analyzed to assess performance. For EM EQA, between 2009 and 2011, there was excellent performance in distinguishing normal from dense granule-deficient samples and good (>70%) agreement on classifying most electron dense structures in platelets. For aggregation EQA, some normal variants were misclassified and overall case interpretations were more acceptable for rare disorders than for common findings. NASCOLA experiences with these EQAs indicate that there is a need to improve the quality of platelet disorder evaluations. For aggregometry interpretations, deficits in performance could be addressed by translating guideline recommendations into practice.

  8. [The role of inositol deficiency in the etiology of polycystic ovary syndrome disorders].

    Science.gov (United States)

    Jakimiuk, Artur J; Szamatowicz, Jacek

    2014-01-01

    Inositol acts as a second messenger in insulin signaling pathway Literature data suggest inositol deficiency in insulin-resistant women with the polycystic ovary syndrome. Supplementation of myo-inisitol decreases insulin resistance as it works as an insulin sensitizing agent. The positive role of myo-inositol in the treatment of polycystic ovary syndrome has been of increased evidence recently The present review presents the effects of myo-inositol on the ovarian, hormonal and metabolic parameters in women with PCOS.

  9. Ferumoxytol versus placebo in iron deficiency anemia: efficacy, safety, and quality of life in patients with gastrointestinal disorders

    Science.gov (United States)

    Ford, David C; Dahl, Naomi V; Strauss, William E; Barish, Charles F; Hetzel, David J; Bernard, Kristine; Li, Zhu; Allen, Lee F

    2016-01-01

    Introduction Iron deficiency anemia (IDA) is common in patients with gastrointestinal (GI) disorders and can adversely affect quality of life. Oral iron is poorly tolerated in many patients with GI disorders. Ferumoxytol is approved for the intravenous treatment of IDA in patients with chronic kidney disease. This study aimed to evaluate the efficacy and safety of ferumoxytol in patients with IDA and concomitant GI disorders. Patients and methods This analysis included 231 patients with IDA and GI disorders from a Phase III, randomized, double-blind, placebo-controlled trial evaluating ferumoxytol (510 mg ×2) versus placebo in patients who had failed or were intolerant of oral iron therapy. The primary study end point was the proportion of patients achieving a ≥20 g/L increase in hemoglobin (Hgb) from baseline to Week 5. Other end points included mean change in Hgb, proportion of patients achieving Hgb ≥120 g/L, mean change in transferrin saturation, and patient-reported outcomes (PROs). Results Significantly more patients with IDA receiving ferumoxytol achieved a ≥20 g/L increase in Hgb versus placebo (82.1% vs 1.7%, respectively; P<0.001). Mean increase in Hgb (28.0 g/L vs −1.0 g/L, respectively; P<0.001) significantly favored ferumoxytol treatment. Ferumoxytol-treated patients demonstrated significantly greater improvements than placebo-treated patients relative to their very poor baseline PRO scores posttreatment, including improvements in the Functional Assessment of Chronic Illness Therapy–Fatigue questionnaire and various domains of the 36-Item Short-Form Health Survey. Ferumoxytol-treated patients had a low rate of adverse events. Conclusion In this study, ferumoxytol was shown to be an efficacious and generally well-tolerated treatment option for patients with IDA and underlying GI disorders who were unable to use or had a history of unsatisfactory oral iron therapy. PMID:27468245

  10. Genetic hemoglobin disorders rather than iron deficiency are a major predictor of hemoglobin concentration in women of reproductive age in rural prey Veng, Cambodia.

    Science.gov (United States)

    Karakochuk, Crystal D; Whitfield, Kyly C; Barr, Susan I; Lamers, Yvonne; Devlin, Angela M; Vercauteren, Suzanne M; Kroeun, Hou; Talukder, Aminuzzaman; McLean, Judy; Green, Timothy J

    2015-01-01

    Anemia is common in Cambodian women. Potential causes include micronutrient deficiencies, genetic hemoglobin disorders, inflammation, and disease. We aimed to investigate factors associated with anemia (low hemoglobin concentration) in rural Cambodian women (18-45 y) and to investigate the relations between hemoglobin disorders and other iron biomarkers. Blood samples were obtained from 450 women. A complete blood count was conducted, and serum and plasma were analyzed for ferritin, soluble transferrin receptor (sTfR), folate, vitamin B-12, retinol binding protein (RBP), C-reactive protein (CRP), and α1 acid glycoprotein (AGP). Hemoglobin electrophoresis and multiplex polymerase chain reaction were used to determine the prevalence and type of genetic hemoglobin disorders. Overall, 54% of women had a genetic hemoglobin disorder, which included 25 different genotypes (most commonly, hemoglobin E variants and α(3.7)-thalassemia). Of the 420 nonpregnant women, 29.5% had anemia (hemoglobin iron stores (ferritin iron deficiency (sTfR >8.3 mg/L), iron deficiency anemia (IDA) were 14.2% and 1.5% in those with and without hemoglobin disorders, respectively. There was no biochemical evidence of vitamin A deficiency (RBP 5 mg/L) and 26% (AGP >1 g/L) of nonpregnant women, respectively. By using an adjusted linear regression model, the strongest predictors of hemoglobin concentration were hemoglobin E homozygous disorder and pregnancy status. Other predictors were 2 other heterozygous traits (hemoglobin E and Constant Spring), parity, RBP, log ferritin, and vitamin B-12. Multiple biomarkers for anemia and iron deficiency were significantly influenced by the presence of hemoglobin disorders, hence reducing their diagnostic sensitivity. Further investigation of the unexpectedly low prevalence of IDA in Cambodian women is warranted. © 2015 American Society for Nutrition.

  11. rhIGF-1 Therapy for Growth Failure and IGF-1 Deficiency in Congenital Disorder of Glycosylation Ia (PMM2 Deficiency

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    Bradley S. Miller MD, PhD

    2013-09-01

    Full Text Available Background. Congenital disorders of glycosylation (CDG are a group of rare disorders in which glycosylation required for proper protein-protein interactions and protein stability is disrupted, manifesting clinically with multiple system involvement and growth failure. The insulin-like growth factor (IGF system plays an important role in childhood growth and has been shown to be dysfunctional with low IGF-1 levels in children with CDG type Ia (PMM2 deficiency. Case report. A 3-year-old Caucasian male with failure to thrive was diagnosed with PMM2-CDG at 5 months of age. Initially, his length and weight were less than −2 standard deviation score, IGF-1 <25 ng/mL (normal 55-327 ng/mL, IGFBP-3 1.0 µg/mL (normal 0.7-3.6 ng/mL, and acid-labile subunit 1.3 mg/L (normal 0.7-7.9 mg/L. Despite aggressive feeding, he continued to show poor linear growth and weight gain. At 17 months, he underwent an IGF-1 generation test with growth hormone (0.1 mg/kg/d for 7 days; baseline IGF-1of 27 ng/mL (normal 55-327 ng/mL stimulated to only 33 ng/mL. Recombinant human IGF-1 (rhIGF-1 therapy (up to 130 µg/kg/dose twice daily was initiated at 21 months of age resulting in an excellent linear growth response with height increasing from −2.73 to −1.39 standard deviation score over 22 months. IGF-1 and IGFBP-3 levels also increased. Conclusion. This is the first case report of rhIGF-1 therapy in a patient with PMM2-CDG. The child had an excellent linear growth response. These results provide additional in vivo evidence for IGF dysfunction in PMM2-CDG and suggest that rhIGF-1 may be a novel treatment for growth failure in PMM2-CDG.

  12. Color vision deficiency compensation for Visual Processing Disorder using Hardy-Rand-Rittler test and color transformation

    Science.gov (United States)

    Balbin, Jessie R.; Pinugu, Jasmine Nadja J.; Bautista, Joshua Ian C.; Nebres, Pauline D.; Rey Hipolito, Cipriano M.; Santella, Jose Anthony A.

    2017-06-01

    Visual processing skill is used to gather visual information from environment however, there are cases that Visual Processing Disorder (VPD) occurs. The so called visual figure-ground discrimination is a type of VPD where color is one of the factors that contributes on this type. In line with this, color plays a vital role in everyday living, but individuals that have limited and inaccurate color perception suffers from Color Vision Deficiency (CVD) and still not aware on their case. To resolve this case, this study focuses on the design of KULAY, a Head-Mounted Display (HMD) device that can assess whether a user has a CVD or not thru the standard Hardy-Rand-Rittler (HRR) test. This test uses pattern recognition in order to evaluate the user. In addition, color vision deficiency simulation and color correction thru color transformation is also a concern of this research. This will enable people with normal color vision to know how color vision deficient perceives and vice-versa. For the accuracy of the simulated HRR assessment, its results were validated thru an actual assessment done by a doctor. Moreover, for the preciseness of color transformation, Structural Similarity Index Method (SSIM) was used to compare the simulated CVD images and the color corrected images to other reference sources. The output of the simulated HRR assessment and color transformation shows very promising results indicating effectiveness and efficiency of the study. Thus, due to its form factor and portability, this device is beneficial in the field of medicine and technology.

  13. Low dimensional temporal organization of spontaneous eye blinks in adults with developmental disabilities and stereotyped movement disorder.

    Science.gov (United States)

    Lee, Mei-Hua; Bodfish, James W; Lewis, Mark H; Newell, Karl M

    2010-01-01

    This study investigated the mean rate and time-dependent sequential organization of spontaneous eye blinks in adults with intellectual and developmental disability (IDD) and individuals from this group who were additionally categorized with stereotypic movement disorder (IDD+SMD). The mean blink rate was lower in the IDD+SMD group than the IDD group and both of these groups had a lower blink rate than a contrast group of healthy adults. In the IDD group the n to n+1 sequential organization over time of the eye-blink durations showed a stronger compensatory organization than the contrast group suggesting decreased complexity/dimensionality of eye-blink behavior. Very low blink rate (and thus insufficient time series data) precluded analysis of time-dependent sequential properties in the IDD+SMD group. These findings support the hypothesis that both IDD and SMD are associated with a reduction in the dimension and adaptability of movement behavior and that this may serve as a risk factor for the expression of abnormal movements.

  14. A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation

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    Jaime Chu

    2013-01-01

    Individuals with congenital disorders of glycosylation (CDG have recessive mutations in genes required for protein N-glycosylation, resulting in multi-systemic disease. Despite the well-characterized biochemical consequences in these individuals, the underlying cellular defects that contribute to CDG are not well understood. Synthesis of the lipid-linked oligosaccharide (LLO, which serves as the sugar donor for the N-glycosylation of secretory proteins, requires conversion of fructose-6-phosphate to mannose-6-phosphate via the phosphomannose isomerase (MPI enzyme. Individuals who are deficient in MPI present with bleeding, diarrhea, edema, gastrointestinal bleeding and liver fibrosis. MPI-CDG patients can be treated with oral mannose supplements, which is converted to mannose-6-phosphate through a minor complementary metabolic pathway, restoring protein glycosylation and ameliorating most symptoms, although liver disease continues to progress. Because Mpi deletion in mice causes early embryonic lethality and thus is difficult to study, we used zebrafish to establish a model of MPI-CDG. We used a morpholino to block mpi mRNA translation and established a concentration that consistently yielded 13% residual Mpi enzyme activity at 4 days post-fertilization (dpf, which is within the range of MPI activity detected in fibroblasts from MPI-CDG patients. Fluorophore-assisted carbohydrate electrophoresis detected decreased LLO and N-glycans in mpi morphants. These deficiencies resulted in 50% embryonic lethality by 4 dpf. Multi-systemic abnormalities, including small eyes, dysmorphic jaws, pericardial edema, a small liver and curled tails, occurred in 82% of the surviving larvae. Importantly, these phenotypes could be rescued with mannose supplementation. Thus, parallel processes in fish and humans contribute to the phenotypes caused by Mpi depletion. Interestingly, mannose was only effective if provided prior to 24 hpf. These data provide insight into treatment efficacy

  15. The Neural Correlates of Deficient Error Awareness in Attention-Deficit Hyperactivity Disorder (ADHD)

    Science.gov (United States)

    O'Connell, Redmond G.; Bellgrove, Mark A.; Dockree, Paul M.; Lau, Adam; Hester, Robert; Garavan, Hugh; Fitzgerald, Michael; Foxe, John J.; Robertson, Ian H.

    2009-01-01

    The ability to detect and correct errors is critical to adaptive control of behaviour and represents a discrete neuropsychological function. A number of studies have highlighted that attention-deficit hyperactivity disorder (ADHD) is associated with abnormalities in behavioural and neural responsiveness to performance errors. One limitation of…

  16. Diagnostic Assessment of Movement Disorders and Psychomotor Deficiency in Residual Schizophrenia

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    Vera Ilanković

    2014-06-01

    We would like to stress that psychiatric patients in psychotic, (prepsychotic and postpsychotic states, besides being mentally ill, also suffer from serious movement disorders  (psychomotor disturbances and deficits which put them into the category of  disabled persons, who besides requiring psychiatric (neuropsychiatric treatment, also require systematic psychomotor and speech  rehabilitation.

  17. Prevalence of iodine deficiency among adult population residing in Rural Ballabgarh, district Faridabad, Haryana

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    Ayush Lohiya

    2015-01-01

    Full Text Available Community-based surveys are essential to monitor iodine deficiency disorders (IDD program at both the state and national levels. There is paucity of information on population iodine nutrition status in Haryana state using standard methods. A cross-sectional study was conducted in villages of Comprehensive Rural Health Services Project (CRHSP, Ballabgarh, Haryana, India. A total of 465 randomly selected individuals were assessed for urinary iodine concentration (UIC by microplate method and household salt iodine content using iodometric titration. Of the interviewed households, 73% were using adequately iodized salt (≥15 ppm. Iodine nutrition was deficient in 17% respondents (UIC <100 μg/L; 20.2% among males and 13.9% among females. Iodine intake of the study population as measured by UIC was adequate but nearly one-fourth of households in the study population were consuming inadequately iodized salt. The availability and access to adequately iodized salt in the study population should be improved by strengthening regulatory monitoring.

  18. Poliovirus excretion among persons with primary immune deficiency disorders: summary of a seven-country study series.

    Science.gov (United States)

    Li, Li; Ivanova, Olga; Driss, Nadia; Tiongco-Recto, Marysia; da Silva, Rajiva; Shahmahmoodi, Shohreh; Sazzad, Hossain M S; Mach, Ondrej; Kahn, Anna-Lea; Sutter, Roland W

    2014-11-01

    Persons with primary immune deficiency disorders (PID), especially those disorders affecting the B-cell system, are at substantially increased risk of paralytic poliomyelitis and can excrete poliovirus chronically. However, the risk of prolonged or chronic excretion is not well characterized in developing countries. We present a summary of a country study series on poliovirus excretion among PID cases. Cases with PID from participating institutions were enrolled during the first year and after obtaining informed consent were tested for polioviruses in stool samples. Those cases excreting poliovirus were followed on a monthly basis during the second year until 2 negative stool samples were obtained. A total of 562 cases were enrolled in Bangladesh, China, Iran, Philippines, Russia, Sri Lanka, and Tunisia during 2008-2013. Of these, 17 (3%) shed poliovirus, including 2 cases with immunodeficient vaccine-derived poliovirus. Poliovirus was detected in a single sample from 5/17 (29%) cases. One case excreted for more than 6 months. None of the cases developed paralysis during the study period. Chronic polioviruses excretion remains a rare event even among individuals with PID. Nevertheless, because these individuals were not paralyzed they would have been missed by current surveillance; therefore, surveillance for polioviruses among PID should be established. © The Author 2014. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  19. Extremely prolonged HIV seroconversion associated with an MHC haplotype carrying disease susceptibility genes for antibody deficiency disorders.

    Science.gov (United States)

    Padiglione, Alex; Aleksic, Eman; French, Martyn; Arnott, Alicia; Wilson, Kim M; Tippett, Emma; Kaye, Matthew; Gray, Lachlan; Ellett, Anne; Crane, Megan; Leslie, David E; Lewin, Sharon R; Breschkin, Alan; Birch, Chris; Gorry, Paul R; McPhee, Dale A; Crowe, Suzanne M

    2010-11-01

    Severe immunodeficiency during primary human immunodeficiency virus (HIV) infection is unusual. Here, we characterized viral and immunological parameters in a subject presenting with Pneumocystis jirovecii pneumonia in the setting of prolonged primary HIV illness and delayed seroconversion. HIV antibody was only detected by enzyme-linked immunosorbent assay 12 months after presentation, and Western blot profiles remain indeterminate. Isolated virus was of R5 phenotype, exhibited poor viral fitness, but was otherwise unremarkable. Analysis of HIV antibody isotypes showed failure to mount a detectable HIV IgG response over nearly 2 years of infection, in particular IgG(1)- and IgG(3)-specific responses, despite normal responses to common infections and vaccines. Genetic analysis demonstrated homozygosity for part of an MHC haplotype containing susceptibility genes for common variable immunodeficiency (CVID) syndrome and other antibody deficiency disorders. Thus, a primary disorder of specific antibody production may explain exceptionally slow antibody development in an otherwise severe seroconversion illness. This highlights the need for multiparameter testing, in particular use of a fourth generation HIV test, for confirming HIV infection and underscores the importance of host factors in HIV pathogenesis. Copyright © 2010 Elsevier Inc. All rights reserved.

  20. Alpha-CaMKII deficiency causes immature dentate gyrus, a novel candidate endophenotype of psychiatric disorders

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    Yamasaki Nobuyuki

    2008-09-01

    Full Text Available Abstract Elucidating the neural and genetic factors underlying psychiatric illness is hampered by current methods of clinical diagnosis. The identification and investigation of clinical endophenotypes may be one solution, but represents a considerable challenge in human subjects. Here we report that mice heterozygous for a null mutation of the alpha-isoform of calcium/calmodulin-dependent protein kinase II (alpha-CaMKII+/- have profoundly dysregulated behaviours and impaired neuronal development in the dentate gyrus (DG. The behavioral abnormalities include a severe working memory deficit and an exaggerated infradian rhythm, which are similar to symptoms seen in schizophrenia, bipolar mood disorder and other psychiatric disorders. Transcriptome analysis of the hippocampus of these mutants revealed that the expression levels of more than 2000 genes were significantly changed. Strikingly, among the 20 most downregulated genes, 5 had highly selective expression in the DG. Whereas BrdU incorporated cells in the mutant mouse DG was increased by more than 50 percent, the number of mature neurons in the DG was dramatically decreased. Morphological and physiological features of the DG neurons in the mutants were strikingly similar to those of immature DG neurons in normal rodents. Moreover, c-Fos expression in the DG after electric footshock was almost completely and selectively abolished in the mutants. Statistical clustering of human post-mortem brains using 10 genes differentially-expressed in the mutant mice were used to classify individuals into two clusters, one of which contained 16 of 18 schizophrenic patients. Nearly half of the differentially-expressed probes in the schizophrenia-enriched cluster encoded genes that are involved in neurogenesis or in neuronal migration/maturation, including calbindin, a marker for mature DG neurons. Based on these results, we propose that an "immature DG" in adulthood might induce alterations in behavior and

  1. Deficient cardiovascular stress reactivity predicts poor executive functions in adults with attention-deficit/hyperactivity disorder.

    Science.gov (United States)

    Hirvikoski, Tatja; Olsson, Erik M G; Nordenstrom, Anna; Lindholm, Torun; Nordstrom, Anna-Lena; Lajic, Svetlana

    2011-01-01

    Associations between cardiovascular stress markers, subjective stress reactivity, and executive functions were studied in 60 adults (30 with attention-deficit/hyperactivity disorder, ADHD, and 30 controls) using the Paced Auditory Serial Addition Test (PASAT, a test of executive functions) as a cognitive stressor. Despite higher self-perceived stress, the adults with ADHD showed lower or atypical cardiovascular stress reactivity, which was associated with poorer performance on PASAT. Using cardiovascular stress markers, subjective stress, and results on PASAT as predictors in a logistic regression, 83.3% of the ADHD group and 86.9% of the controls could be classified correctly.

  2. Vitamin B12 and folate deficiency: should we use a different cutoff value for hematologic disorders?

    Science.gov (United States)

    Toprak, B; Yalcın, H Z; Colak, A

    2014-08-01

    Anemia and macrocytosis are well-defined expected hematologic findings of vitamin B12 and folate deficiency; however, some previous studies did not show a significant association of subnormal B12 with anemia and macrocytosis. We retrospectively analyzed 17 713 laboratory patient records to evaluate vitamin B12 and folate levels in relation to anemia and macrocytosis. In an age- and sex-adjusted logistic regression model, low B12 status but not marginal B12 status was significantly associated with anemia [ORs respectively, 1.291 (95% CI, 1.182-1.410), 1.022 (95% CI, 0.943-1.108)] and macrocytosis [ORs, respectively, 3.853 (95% CI, 3.121-4.756), 1.031 (95% CI, 0.770-1.381)]. Also low folate status but not marginal folate status was significantly associated with anemia [adjusted ORs, respectively, 1.819 (95% CI, 1.372-2.411), 1.101 (95% CI, 0.931-1.301)] and macrocytosis [adjusted ORs, respectively, 2.945 (95% CI, 1.747-4.965), 1.228 (95% CI, 0.795-1.898)]. Our results show that increased anemia and macrocytosis are observed at values below commonly used B12 lower-reference thresholds. Determining a hematologic cutoff value may help physicians in clinical practice. © 2013 John Wiley & Sons Ltd.

  3. Deficiencies and excessive human complement system activation in disorders of multifarious etiology.

    Science.gov (United States)

    Tichaczek-Goska, Dorota

    2012-01-01

    Complement is an integral part of the immune system protecting the host organism against invasion and proliferation of various microorganisms. It is also involved in the removal of the body's own damaged and altered cells. Activation of the complement system is a very precise process and it is strictly controlled by regulatory proteins present in both plasma and at host cells' surfaces. C3 protein plays a major role in the complement activation and generation of immune responses. Deficiencies of the C3 and other complement components, so-called early and late complement proteins, contribute to the emergence of recurrent bacterial, viral and fungal infections. The low level of mannose-binding lectin is also important. This protein plays a protective role in the early stages of infection and in the control of inflammation. Its deficit is one of the most common reasons for human immunodeficiency, observed in microbial infections as well as in autoimmune diseases such as rheumatoid arthritis. On the other hand, the excessive activation of complement proteins is often discovered to be the reason for many diseases. These include e.g. autoimmune diseases, Alzheimer's syndrome, schizophrenia, atypical hemolytic-uremic syndrome, angioedema, macular degeneration, and Crohn's disease.

  4. Membrane Omega-3 Fatty Acid Deficiency as a Preventable Risk Factor for Comorbid Coronary Heart Disease in Major Depressive Disorder

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    Robert K. McNamara

    2009-01-01

    Full Text Available Major depression disorder (MDD significantly increases the risk for coronary heart disease (CHD which is a leading cause of mortality in patients with MDD. Moreover, depression is frequently observed in a subset of patients following acute coronary syndrome (ACS and increases risk for mortality. Here evidence implicating omega-3 (n-3 fatty acid deficiency in the pathoaetiology of CHD and MDD is reviewed, and the hypothesis that n-3 fatty acid deficiency is a preventable risk factor for CHD comorbidity in MDD patients is evaluated. This hypothesis is supported by cross-national and cross-sectional epidemiological surveys finding an inverse correlation between n-3 fatty acid status and prevalence rates of both CHD and MDD, prospective studies finding that lower dietary or membrane EPA+DHA levels increase risk for both MDD and CHD, case-control studies finding that the n-3 fatty acid status of MDD patients places them at high risk for emergent CHD morbidity and mortality, meta-analyses of controlled n-3 fatty acid intervention studies finding significant advantage over placebo for reducing depression symptom severity in MDD patients, and for secondary prevention of cardiac events in CHD patients, findings that n-3 fatty acid status is inversely correlated with other documented CHD risk factors, and patients diagnosed with MDD after ACS exhibit significantly lower n-3 fatty acid status compared with nondepressed ACS patients. This body of evidence provides strong support for future studies to evaluate the effects of increasing dietary n-3 fatty acid status on CHD comorbidity and mortality in MDD patients.

  5. Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.

    Science.gov (United States)

    Mochel, Fanny; Hainque, Elodie; Gras, Domitille; Adanyeguh, Isaac M; Caillet, Samantha; Héron, Bénédicte; Roubertie, Agathe; Kaphan, Elsa; Valabregue, Romain; Rinaldi, Daisy; Vuillaumier, Sandrine; Schiffmann, Raphael; Ottolenghi, Chris; Hogrel, Jean-Yves; Servais, Laurent; Roze, Emmanuel

    2016-05-01

    On the basis of our previous work with triheptanoin, which provides key substrates to the Krebs cycle in the brain, we wished to assess its therapeutic effect in patients with glucose transporter type 1 deficiency syndrome (GLUT1-DS) who objected to or did not tolerate ketogenic diets. We performed an open-label pilot study with three phases of 2 months each (baseline, treatment and withdrawal) in eight patients with GLUT1-DS (7-47 years old) with non-epileptic paroxysmal manifestations. We used a comprehensive patient diary to record motor and non-motor paroxysmal events. Functional (31)P-NMR spectroscopy was performed to quantify phosphocreatine (PCr) and inorganic phosphate (Pi) within the occipital cortex during (activation) and after (recovery) a visual stimulus. Patients with GLUT1-DS experienced a mean of 30.8 (± 27.7) paroxysmal manifestations (52% motor events) at baseline that dropped to 2.8 (± 2.9, 76% motor events) during the treatment phase (p = 0.028). After withdrawal, paroxysmal manifestations recurred with a mean of 24.2 (± 21.9, 52% motor events; p = 0.043). Furthermore, brain energy metabolism normalised with triheptanoin, that is, increased Pi/PCr ratio during brain activation compared to the recovery phase (p = 0.021), and deteriorated when triheptanoin was withdrawn. Treatment with triheptanoin resulted in a 90% clinical improvement in non-epileptic paroxysmal manifestations and a normalised brain bioenergetics profile in patients with GLUT1-DS. NCT02014883. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  6. Behavioral phenotyping of glutathione-deficient mice: relevance to schizophrenia and bipolar disorder.

    Science.gov (United States)

    Kulak, Anita; Cuenod, Michel; Do, Kim Q

    2012-01-15

    Redox-dysregulation represents a common pathogenic mechanism in schizophrenia (SZ) and bipolar disorder (BP). It may in part arise from a genetically compromised synthesis of glutathione (GSH), the major cellular antioxidant and redox-regulator. Allelic variants of the genes coding for the rate-limiting GSH synthesizing enzyme glutamate-cysteine-ligase modifier (GCLM) and/or catalytic (GCLC) subunit have been associated with SZ and BP. Using mice knockout (KO) for GCLM we have previously shown that impaired GSH synthesis is associated with morphological, functional and neurochemical anomalies similar to those in patients. Here we asked whether GSH deficit is also associated with SZ- and BP-relevant behavioral and cognitive anomalies. Accordingly, we subjected young adult GCLM-wildtype (WT), heterozygous and KO males to a battery of standard tests. Compared to WT, GCLM-KO mice displayed hyperlocomotion in the open field and forced swim test but normal activity in the home cage, suggesting that hyperlocomotion was selective to environmental novelty and mildly stressful situations. While spatial working memory and latent inhibition remained unaffected, KO mice showed a potentiated hyperlocomotor response to an acute amphetamine injection, impaired sensorymotor gating in the form of prepulse inhibition and altered social behavior compared to WT. These anomalies resemble important aspects of both SZ and the manic component of BP. As such our data support the notion that redox-dysregulation due to GSH deficit is implicated in both disorders. Moreover, our data propose the GCLM-KO mouse as a valuable model to study the behavioral and cognitive consequences of redox dysregulation in the context of psychiatric disease.

  7. Competency-Based Training and Worker Turnover in Community Supports for People with IDD: Results from a Group Randomized Controlled Study

    Science.gov (United States)

    Bogenschutz, Matthew; Nord, Derek; Hewitt, Amy

    2015-01-01

    Turnover among direct support professionals (DSPs) in community support settings for individuals with intellectual and developmental disabilities (IDD) has been regarded as a challenge since tracking of this workforce began in the 1980s. This study utilized a group randomized controlled design to test the effects of a competency-based training…

  8. Chapter 30: historical aspects of the major neurological vitamin deficiency disorders: the water-soluble B vitamins.

    Science.gov (United States)

    Lanska, Douglas J

    2010-01-01

    This historical review addresses major neurological disorders associated with deficiencies of water-soluble B vitamins: beriberi, Wernicke-Korsakoff syndrome, pellagra, neural tube defects, and subacute combined degeneration of the spinal cord. Beriberi: Beriberi was known for millennia in Asia, but was not described by a European until the 17th century when Brontius in the Dutch East Indies reported the progressive sensorimotor polyneuropathy. The prevalence of beriberi increased greatly in Asia with a change in the milling process for rice in the late 19th century. In the 1880s, Takaki demonstrated the benefits of dietary modification in sailors, and later instituted dietary reforms in the Japanese Navy, which largely eradicated beriberi from the Japanese Navy by 1887. In 1889 Eijkman in Java serendipitously identified dietary factors as a major contributor to "chicken polyneuritis," which he took to be an animal model for beriberi; the polyneuritis could be cured or prevented by feeding the chickens either unpolished rice or rice polishings. By 1901, Grijns, while continuing studies of beriberi in Java, suggested a dietary deficiency explanation for beriberi after systematically eliminating deficiencies of known dietary components and excluding a toxic effect. Wernicke-Korsakoff syndrome: In the late 1870s, Wernicke identified a clinicopathological condition with ophthalmoparesis, nystagmus, ataxia, and encephalopathy, associated with punctate hemorrhages symmetrically arranged in the grey matter around the third and fourth ventricles and the aqueduct of Sylvius. In the late 1880s, Korsakoff described a spectrum of cognitive disorders, including a confabulatory amnestic state following an agitated delirium, occurring in conjunction with peripheral polyneuropathy. Beginning around 1900, investigators recognized the close relationship between Korsakoff's psychosis, delirium tremens, and Wernicke's encephalopathy, but not until several decades later were Wernicke

  9. The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency.

    Science.gov (United States)

    Steinhagen-Thiessen, Elisabeth; Stroes, Erik; Soran, Handrean; Johnson, Colin; Moulin, Philippe; Iotti, Giorgio; Zibellini, Marco; Ossenkoppele, Bas; Dippel, Michaela; Averna, Maurizio R

    2016-08-21

    A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera(®)) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in 2014 as part of its Risk Management Plan. The aim of this publication is to introduce the GENIALL Registry within a structured literature review of registries in rare genetic lipid disorders. A total of 11 relevant initiatives/registries were identified (homozygous Familial Hypercholesterolemia (hoFH) [n = 5]; LPLD [n = 1]; Lysosomal Acid Lipase Deficiency [LALD, n = 1], detection of mutations in genetic lipid disorders [n = 4]). Besides one product registry in hoFH and the LALD registry, all other initiatives are local or country-specific. GENIALL is the first global prospective registry in LPLD that will collect physician and patient generated data on the natural course of LPLD, as well as long-term outcomes of gene therapy.

  10. RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM).

    Science.gov (United States)

    Schlegelberger, Brigitte; Heller, Paula G

    2017-04-01

    In this review, we discuss disease-causing alterations of RUNT-related transcription factor 1 (RUNX1), a master regulator of hematopoietic differentiation. Familial platelet disorder with predisposition to myeloid leukemia (FPDMM) typically presents with (1) mild to moderate thrombocytopenia with normal-sized platelets; (2) functional platelets defects leading to prolonged bleeding; and (3) an increased risk to develop myelodysplastic syndromes (MDS), acute myeloid leukemia (AML), or T-cell acute lymphoblastic leukemia (T-ALL). Hematological neoplasms in carriers of a germline RUNX1 mutation need additional secondary mutations or chromosome aberrations to develop. If a disease-causing mutation is known in the family, it is important to prevent hematopoietic stem cell transplantation from a sibling or other relative carrying the familial mutation. First experiments introducing a wild-type copy of RUNX1 into induce pluripotent stem cells (iPSC) lines from patients with FPDMM appear to demonstrate that by gene correction reversal of the phenotype may be possible. Copyright © 2017. Published by Elsevier Inc.

  11. Evaluation of endemic goiter prevalence in Bulgarian schoolchildren: results from national strategies for prevention and control of iodine-deficiency disorders.

    Science.gov (United States)

    Gatseva, Penka; Vladeva, Stefka; Argirova, Mariana

    2007-06-01

    Iodine deficiency is a major health problem worldwide. The environment of the Balkan countries, including Bulgaria, is distinguished for its low iodine content. In 1994, the strategies for the prevention and control of iodinedeficiency disorders were actualized in Bulgaria and universal salt iodization and supplementation for the risk population groups (schoolchildren, pregnant women) were introduced. The aim of this study was to assess the effectiveness of the iodine prophylaxis in schoolchildren, living in an endemic for goiter area after the introduction of salt iodization in Bulgaria. For this purpose, the goiter prevalence and iodine status in 483 schoolchildren (274 boys and 209 girls) aged between 8 and 15 yr, living in an endemic for goiter area in Bulgaria were evaluated. Despite the normalization of iodine supply, mild iodine deficiency on the basis of goiter prevalence (16.15%) and urinary iodine excretion was found. These data indicate the need for reevaluation of the national strategy for prevention of iodine deficiency.

  12. Outcome evaluation on health education about iodine deficiency disorders in Congjiang County, Gulzbou Province in 2007%2007年贵州省从江县碘缺乏病健康教育效果评价

    Institute of Scientific and Technical Information of China (English)

    王娟; 林来祥; 何平; 赵德运; 刘铭; 周德梅; 肖祖述; 越远; 陈祖培; 钱明

    2009-01-01

    Objective To evaluate the effect of health education in controlling the iodine deficiency diserders(IDD) in order to provide reference data for the further prevention and control. Methods Each village of 3 towns in Congjiang County was selected in 2007, where the health education lasting for 10 months had been implemented in the school students of 3-6 grade and the villagers. The school students of 3-6 grade and 30 housewives in the villagers were investigated for their IDD control knowledge, the salt consuming conditions as well as the sales of both rough and fine salt at a salt retail site in each village before and after the health education was implemented. Results The awareness rate of the knowledge of IDD control in the students and housewives was 91.4% (581/636) and 78.3% (282/360), respectively after intervention, which significantly increased (χ2= 532.044, 326.117, both P < 0.01) compared with the rate of 28.2% (184/652) and 11.4% (41/360) before intervention. The proportion of consuming fine salt was 91.8%(146/159) and 95.6%(86/90), significantly inereased(χ2= 236.623, 135.350, both P < 0.01) compared with 6.1%(10/163) and 7.8% (7/90) found before intervention. The selling proportion of fine salt at the salt retail site in the village was 60.0%(900/1500), significantly increased(χ2= 824.176, P < 0.01) compared with 10.0%(150/1500) before intervention. Conclusions Health education and promotion is solid foundation for effectively controlling IDD, through which the students and villagers are actively and voluntarily involved in the program and hence have formed good living and hygiene habits, thus expected effect has been obtained.%目的 评价健康教育干预防治碘缺乏病(IDD)效果,为防治工作提供参考依据.方法 2007年在贵州省从江县选择3个乡,每个乡选择1个村作为试点村,对每所村小学3~6年级全体学生和全体村民进行IDD知识的健康教育,时间为10个月.在健康教育

  13. Deficient visuospatial working memory functions and neural correlates of the default-mode network in adolescents with autism spectrum disorder.

    Science.gov (United States)

    Chien, Hsiang-Yun; Gau, Susan Shur-Fen; Isaac Tseng, Wen-Yih

    2016-10-01

    In addition to the essential features of autism spectrum disorder (ASD), namely social communication deficits and repetitive behaviors, individuals with ASD may suffer from working memory deficits and an altered default-mode network (DMN). We hypothesized that an altered DMN is related to working memory deficits in those with ASD. A total of 37 adolescents with ASD and 36 age- and IQ-matched typically developing (TD) controls were analyzed. Visuospatial working memory performance was assessed using pattern recognition memory (PRM), spatial recognition memory (SRM), and paired-associates learning (PAL) tasks. The intrinsic functional connectivity (iFC) of the DMN was indexed by the temporal correlations between the resting-state functional magnetic resonance imaging signals of pairs of DMN regions, including those between the posterior cingulate cortex (PCC) and medial prefrontal cortex (mPFC) and between the PCC and parahippocampi (PHG). The corresponding structural connectivity of the DMN was indexed by the generalized fractional anisotropy (GFA) of the dorsal and ventral cingulum bundles on the basis of diffusion spectrum imaging data. The results showed that ASD adolescents exhibited delayed correct responses in PRM and SRM tasks and committed more errors in the PAL task than the TD controls did. The delayed responses during the PRM and SRM tasks were negatively correlated with bilateral PCC-mPFC iFCs, and PAL performance was negatively correlated with right PCC-PHG iFC in ASD adolescents. Furthermore, ASD adolescents showed significant lower GFA in the right cingulum bundles than the TD group did; the GFA value was negatively correlated with SRM performance in ASD. Our results provide empirical evidence for deficient visuospatial working memory and corresponding neural correlates within the DMN in adolescents with ASD. Autism Res 2016, 9: 1058-1072. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

  14. Iodine deficiency and excess coexist in china and induce thyroid dysfunction and disease: a cross-sectional study.

    Directory of Open Access Journals (Sweden)

    Yang Du

    Full Text Available BACKGROUND: In spite of the salt iodization, iodine deficiency disorders (IDD have not been sustainably eliminated in China. There are coastal areas with low iodized salt coverage rates (iodine nutrition is inadequate and other areas with excessive amounts of iodine in the drinking water. OBJECTIVE: This study aimed to clarify the association of iodine deficiencies resulting from a low coverage rate of iodized salt, excess iodine intake from drinking water with thyroid function and disease in adults. DESIGN: A cross-sectional study was conducted in adults in different iodine nutrition areas in three provinces in China. RESULTS: The prevalence of thyroid nodules was 15.52%, 8.66% and 22.17% in the iodine excess, sufficient and deficient groups, respectively. The prevalence of subclinical hypothyroidism was 20.09%, 10.41%, and 2.25% in the excess, sufficient and deficient iodine groups, respectively. The prevalence of subclinical hyperthyroidism and overt hyperthyroidism in the iodine deficient group was higher than that in the iodine excess group ([Formula: see text] = 9.302, p = 0.002 and iodine sufficient group ([Formula: see text] = 7.553, p = 0.006. Thyroid-stimulating hormone (TSH was significantly correlated with excess iodine intake (β = 1.764,P = 0.001 and deficient iodine intake (β = -1.219, P = 0.028. CONCLUSIONS: Thyroid nodules are more likely to be present in the iodine excess and deficient areas than in the iodine sufficient areas. Subclinical hyperthyroidism and overt hyperthyroidism are more likely to be prevalent in the iodine deficient areas than in the iodine excess or sufficient areas. Subclinical hypothyroidism is more likely to be prevalent in the high iodine intake areas than in the iodine deficient or sufficient areas. Median TSH may be deemed as an alternative indicator for monitoring the iodine nutrition status of the adult population in iodine excess and deficient areas.

  15. Deafness induced by Connexin 26 (GJB2) deficiency is not determined by endocochlear potential (EP) reduction but is associated with cochlear developmental disorders.

    Science.gov (United States)

    Chen, Jin; Chen, Jing; Zhu, Yan; Liang, Chun; Zhao, Hong-Bo

    2014-05-23

    Connexin 26 (Cx26, GJB2) mutations are the major cause of hereditary deafness and are responsible for >50% of nonsyndromic hearing loss. Mouse models show that Cx26 deficiency can cause congenital deafness with cochlear developmental disorders, hair cell degeneration, and the reduction of endocochlear potential (EP) and active cochlear amplification. However, the underlying deafness mechanism still remains undetermined. Our previous studies revealed that hair cell degeneration is not a primary cause of hearing loss. In this study we investigated the role of EP reduction in Cx26 deficiency-induced deafness. We found that the EP reduction is not associated with congenital deafness in Cx26 knockout (KO) mice. The threshold of auditory brainstem response (ABR) in Cx26 KO mice was even greater than 110 dB SPL, demonstrating complete hearing loss. However, the EP in Cx26 KO mice varied and not completely abolished. In some cases, the EP could still remain at higher levels (>70 mV). We further found that the deafness in Cx26 KO mice is associated with cochlear developmental disorders. Deletion of Cx26 in the cochlea before postnatal day 5 (P5) could cause congenital deafness. The cochlea had developmental disorders and the cochlear tunnel was not open. However, no congenital deafness was found when Cx26 was deleted after P5. The cochlea also displayed normal development and the cochlear tunnel was open normally. These data suggest that congenital deafness induced by Cx26 deficiency is not determined by EP reduction and may result from cochlear developmental disorders.

  16. Genetics Home Reference: glutathione synthetase deficiency

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions glutathione synthetase deficiency glutathione synthetase deficiency Enable Javascript to view the expand/ ... boxes. Download PDF Open All Close All Description Glutathione synthetase deficiency is a disorder that prevents the ...

  17. Genetics Home Reference: GLUT1 deficiency syndrome

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions GLUT1 deficiency syndrome GLUT1 deficiency syndrome Enable Javascript to view the expand/ ... boxes. Download PDF Open All Close All Description GLUT1 deficiency syndrome is a disorder affecting the nervous ...

  18. The interictal dysphoric disorder of epilepsy: Legend or reality?

    Science.gov (United States)

    Mula, Marco

    2016-05-01

    For a long time, the relationships between epilepsy and mood disorders captured the attention of clinicians and neuroscientists. The existence of a peculiar clinical presentation for mood disorders in epilepsy has been a matter of debate since the early reports of Kraepelin and Bleuler. The interictal dysphoric disorder (IDD) represents the modern reinterpretation of such early observations. This paper reviews current research on this topic discussing clinical implications, phenomenological observations, and directions for future research.

  19. Glutamate carboxypeptidase II and folate deficiencies result in reciprocal protection against cognitive and social deficits in mice: implications for neurodevelopmental disorders.

    Science.gov (United States)

    Schaevitz, Laura R; Picker, Jonathan D; Rana, Jasmine; Kolodny, Nancy H; Shane, Barry; Berger-Sweeney, Joanne E; Coyle, Joseph T

    2012-06-01

    Interactions between genetic and environmental risk factors underlie a number of neuropsychiatric disorders, including schizophrenia (SZ) and autism (AD). Due to the complexity and multitude of the genetic and environmental factors attributed to these disorders, recent research strategies focus on elucidating the common molecular pathways through which these multiple risk factors may function. In this study, we examine the combined effects of a haplo-insufficiency of glutamate carboxypeptidase II (GCPII) and dietary folic acid deficiency. In addition to serving as a neuropeptidase, GCPII catalyzes the absorption of folate. GCPII and folate depletion interact within the one-carbon metabolic pathway and/or of modulate the glutamatergic system. Four groups of mice were tested: wild-type, GCPII hypomorphs, and wild-types and GCPII hypomorphs both fed a folate deficient diet. Due to sex differences in the prevalence of SZ and AD, both male and female mice were assessed on a number of behavioral tasks including locomotor activity, rotorod, social interaction, prepulse inhibition, and spatial memory. Wild-type mice of both sexes fed a folic acid deficient diet showed motor coordination impairments and cognitive deficits, while social interactions were decreased only in males. GCPII mutant mice of both sexes also exhibited reduced social propensities. In contrast, all folate-depleted GCPII hypomorphs performed similarly to untreated wild-type mice, suggesting that reduced GCPII expression and folate deficiency are mutually protective. Analyses of folate and neurometabolite levels associated with glutamatergic function suggest several potential mechanisms through which GCPII and folate may be interacting to create this protective effect.

  20. Potential role of novel hepatocellular carcinoma-associated gene IDD01 in promoting tumorigenesis of HepG2 cell line

    Institute of Scientific and Technical Information of China (English)

    CHEN Xiang-yu; LI Jian-sheng; MA Jun; DUAN Fang-ling; ZHONG Peng

    2006-01-01

    Background We have used suppression subtractive hybridization to construct a subtracted cDNA library of hepatocellular carcinoma (HCC) and isolated a panel of differential expression sequence tag (ESTs). By using bioinformatics and rapid amplification of cDNA ends (RACE), we found a novel HCC-associated gene IDD01.To further investigate its function, a recombinant eukaryotic vector pEGFP/ORF was constructed and transfected into the HepG2 cell line.Methods The open reading frame (ORF) of IDD01 was amplified by RT-PCR, digested with Bamh I and Hind Ⅲ, and subcloned into the pEGFP-C 1 vector. The ligation reaction was conducted with T4 DNA ligase, and the recombinant vector was named pEGFP/ORF. Untransfer control (control group), pEGFP-C 1 (HepG2/C 1 group)and pEGFP/ORF (HepG2/ORF group) transfer groups were designed. Gene transfer was conducted with lipofectamine. To obtain stable transfection in HepG2 cells, selection was initiated with 500μg/ml G418. Cellular IDD01 mRNA levels were assayed by semi-quantitative RT-PCR. The MTT colorimetric method and flow cytometry were used to determine the cell proliferation. The tumorigenic potential of transformed cells was determined from their ability to grow as anchorage-independent colonies on soft agar. Transient transfections were performed to observe subcellular location of GFP-IDD01 fusion protein.Results A 778 bp specific band of ORF was obtained by RT-PCR, and the positive clone of recombinant plasmid pEGFP/ORF (5.5 Kb) was identified by restriction endonuclease cleavage and sequence. The brighmess ratio of IDD01 mRNA was not obvious between control and pEGFP/C1 groups, whereas the ratio of pEGFP/ORF was higher than that in the other two groups. After culture for 24-72 hours, the A490 values in pEGFP/ORF were higher than those in the other two groups (P<0.01). On histograms of flow cytometry, the S phase ratio of HepG2/ORF cells was significantly higher than that of the control and HepG2/C1 groups. The HepG2/ORF

  1. Atypical Manifestation of LPS-Responsive beige- like anchor (LRBA Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency.

    Directory of Open Access Journals (Sweden)

    Shahrzad Bakhtiar

    2016-09-01

    Full Text Available Monogenic primary immunodeficiency syndromes can affect one or more endocrine organs by autoimmunity during childhood. Clinical manifestations include type1 diabetes mellitus, hypothyroidism, adrenal insufficiency and vitiligo. LPS-responsive beige-like anchor protein (LRBA deficiency was described in 2012 as a novel primary immunodeficiency, predominantly causing immune dysregulation and early onset enteropathy. We describe the heterogeneous clinical course of LRBA deficiency in two siblings, mimicking an autoimmune polyendocrine disorder in one of them in presence of the same underlying genetic mutation. The third child of consanguineous Egyptian parents (Patient 1 presented at six months of age with intractable enteropathy and failure to thrive. Later on he developed symptoms of adrenal insufficiency, autoimmune haemolytic anaemia, thrombocytopenia, and infectious complications due to immunosuppressive treatment. The severe enteropathy was non-responsive to the standard treatment and led to death at the age of 22 years. His younger sister (Patient 2 presented at the age of 12 to the endocrinology department with decompensated hypothyroidism, perioral vitiligo, delayed pubertal development, and growth failure without enteropathy and immunodeficiency.Using whole-exome sequencing (WES we identified a homozygous frameshift mutation (c.6862delT, p.Y2288MfsX29 in the LRBA gene in both siblings. To our knowledge our patient (patient 2 is the first case of LRBA deficiency described with predominant endocrine phenotype without immunodeficiency and enteropathy. LRBA deficiency should be considered as underlying disease in pediatric patients presenting with autoimmune endocrine symptoms. The same genetic mutation can manifest with a broad phenotypic spectrum without genotype-phenotype correlation. The awareness for disease symptoms among non-immunologists might be a key to early diagnosis. Further functional studies in LRBA deficiency are necessary to

  2. Sleep Deprivation and Deficiency

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Are Sleep Deprivation and Deficiency? Sleep deprivation (DEP-rih-VA- ... Rate This Content: NEXT >> Updated: June 7, 2017 Sleep Infographic Sleep Disorders & Insufficient Sleep: Improving Health through ...

  3. Supervisión del déficit de yodo en Salta Capital Surveillance of iodine deficiency in Salta Capital

    Directory of Open Access Journals (Sweden)

    V. Méndez

    2008-12-01

    Full Text Available El déficit de yodo (IDD es un problema de Salud Pública que afecta a millones de personas en todo el mundo causando alteraciones en la neuromaduración que pueden ser evitados si se realiza una yodoprofilaxis adecuada. Objetivo: Realizar un monitoreo de IDD en la localidad de Salta Capital, por su ubicación geográfica y hábitos alimentarios con posible consumo regional de sal no iodada. Material y métodos: En 442 escolares (221 mujeres de 5 a 14 años de edad, se evaluaron: peso, SDS talla y, SDS BMI. Se realizó la palpación tiroidea y el volumen glandular fue clasificado según los criterios de la OMS. En 97 niños se determinó la yoduria en muestras casuales de orina por el método de Sandell y Kolthof modificado. Se analizó la distribución de los niveles de TSH de la pesquisa neonatal (IFMA-DELFIA realizada en la región de los 18 meses previos al estudio Se aplicaron los criterios de suficiencia iodada establecidos por la OMS/ ICCDD Resultados: La prevalencia de bocio fue de 6.3 %. Los niveles de yoduria fueron: mediana de 127.5 ug/l con 20 % 5 uU/ml. Cuando se aplicaron los criterios de la OMS la prevalencia de bocio superaba levemente lo esperado para una zona suficiente y los niveles de ioduria correspondían con un aporte iodado adecuado pero marginal en su distribución. La distribución de TSH fue la esperada para una zona suficiente. Conclusión: Si bien el aumento de la prevalencia de bocio podría explicarse por factores ambientales la distribución marginal de la ioduria señala un aporte de yodo suficiente pero con necesidad de supervisión estrecha.The iodide deficit disorder (IDD is a worldwide Public Health problem that affects more than a million subjects causing neuromadurative disorders that could be avoided with adequate iodide supply. Objective: To monitor IDD in Salta Capital, due to its geographic location and possible utilization of non iodated salt. Population and methods:. SDSHeight , SDS BMI and weight

  4. Genetics Home Reference: transcobalamin deficiency

    Science.gov (United States)

    ... deficiency often develop a blood disorder called megaloblastic anemia . Megaloblastic anemia results in a shortage of red blood cells, ... and Prevention: Intellectual Disability (PDF) Children's Hospital Boston: Megaloblastic Pernicious Anemia Children's Hospital Boston: White Blood Cell Disorders CLIMB: ...

  5. Maternal iron deficiency worsens the associative learning deficits and hippocampal and cerebellar losses in a rat model of fetal alcohol spectrum disorders.

    Science.gov (United States)

    Huebner, Shane M; Tran, Tuan D; Rufer, Echoleah S; Crump, Peter M; Smith, Susan M

    2015-11-01

    Gestational alcohol exposure causes lifelong physical and neurocognitive deficits collectively referred to as fetal alcohol spectrum disorders (FASDs). Micronutrient deficiencies are common in pregnancies of alcohol-abusing women. Here we show the most common micronutrient deficiency of pregnancy-iron deficiency without anemia-significantly worsens neurocognitive outcomes following perinatal alcohol exposure. Pregnant rats were fed iron-deficient (ID) or iron-sufficient diets from gestational day 13 to postnatal day (P) 7. Pups received alcohol (0, 3.5, 5.0 g/kg) from P 4 to P 9, targeting the brain growth spurt. At P 32, learning was assessed using delay or trace eyeblink classical conditioning (ECC). Cerebellar interpositus nucleus (IPN) and hippocampal CA1 cellularity was quantified using unbiased stereology. Global analysis of variance revealed that ID and alcohol separately and significantly reduced ECC learning with respect to amplitude (ps ≤ 0.001) and conditioned response [CR] percentage (ps ≤ 0.001). Iron and alcohol interacted to reduce CR percentage in the trace ECC task (p = 0.013). Both ID and alcohol significantly reduced IPN (ps learning impairments persisted even though the offsprings' iron status had normalized. Supporting our previous work, gestational ID exacerbates the associative learning deficits in this rat model of FASD. This is strongly associated with cellular reductions within the ECC neurocircuitry. Significant learning impairments in FASD could be the consequence, in part, of pregnancies in which the mother was also iron inadequate. Copyright © 2015 by the Research Society on Alcoholism.

  6. High dose androgen therapy in male pseudohermaphroditism due to 5 alpha-reductase deficiency and disorders of the androgen receptor.

    OpenAIRE

    Price, P; Wass, J. A.; Griffin, J E; Leshin, M; Savage, M O; Large, D. M.; Bu'Lock, D E; Anderson, D. C.; Wilson, J. D.; Besser, G M

    1984-01-01

    We describe the clinical and biochemical features of six men with male pseudohermaphroditism due to androgen resistance. Each of the subjects had male-gender behavior but incomplete virilization. The underlying defects in androgen metabolism were defined by studies of the 5 alpha-reductase enzyme and the androgen receptor in fibroblasts cultured from biopsies of genital skin. Four of the six have 5 alpha-reductase deficiency, and two have defects of the androgen receptor (the Reifenstein synd...

  7. Motor Performance and Rhythmic Perception of Children with Intellectual and Developmental Disability and Developmental Coordination Disorder

    Science.gov (United States)

    Kartasidou, Lefkothea; Varsamis, Panagiotis; Sampsonidou, Anna

    2012-01-01

    Professionals who work with children presenting intellectual and developmental disability (IDD) and developmental coordination disorder (DCD) are concerned with their motor development and their rhythmic perception. The aim of this study is to investigate the correlation between a motor performance test and a music rhythmic test that measures…

  8. 维生素D缺乏与神经精神疾病的关系研究进展%Vitamin D Deficiency and Neuropyschiatric Disorders

    Institute of Scientific and Technical Information of China (English)

    熊小平; 庞海玲

    2016-01-01

    维生素D是一种类固醇激素,在机体钙磷代谢及骨成生中起重要作用。维生素D缺乏可引发佝偻病等疾病。近年来研究发现,维生素D缺乏与神经精神疾病关系密切,如痴呆、帕金森病、多发性硬化、癫痫及精神分裂症等。该文对维生素缺乏与上述几种疾病的关系进行了综述。%Vitamin D is a secosteroid hormones that is typically associated with phosphocalcic homeostasis and osteogenesis. Vitamin D is related to rickets and other diseases. Recently some studies demonstrated that vitamin D deficiency played important role in many neuropsychiatric disorders such as dementia, Parkinson's disease, multiple sclerosis, epilepsy, schiaophrenia, In this article, we will review the relationship of Vitamin D deficiency and the above diseases.

  9. Deficient Attention Is Hard to Find: Applying the Perceptual Load Model of Selective Attention to Attention Deficit Hyperactivity Disorder Subtypes

    Science.gov (United States)

    Huang-Pollock, Cynthia L.; Nigg, Joel T.; Carr, Thomas H.

    2005-01-01

    Background: Whether selective attention is a primary deficit in childhood Attention Deficit Hyperactivity Disorder (ADHD) remains in active debate. Methods: We used the "perceptual load" paradigm to examine both early and late selective attention in children with the Primarily Inattentive (ADHD-I) and Combined subtypes (ADHD-C) of ADHD. Results:…

  10. Fine motor deficiencies in children with developmental coordination disorder and learning disabilities: an underlying open-loop control deficit.

    NARCIS (Netherlands)

    Smits-Engelsman, B.C.M.; Wilson, P.H.; Westenberg, Y.; Duysens, J.E.J.

    2003-01-01

    Thirty-two children with Developmental Coordination Disorder (DCD) and learning disabilities (LD) and their age-matched controls attending normal primary schools were investigated using kinematic movement analysis of fine-motor performance. Three hypotheses about the nature of the motor deficits obs

  11. Fine motor deficiencies in children with developmental coordination disorder and learning disabilities: An underlying open-loop control deficit

    NARCIS (Netherlands)

    Smits-Engelsman, B.C.M.; Wilson, P.H.; Westenberg, Y.; Duysens, J.E.J.

    2003-01-01

    Thirty-two children with Developmental Coordination Disorder (DCD) and learning disabilities (LD) and their age-matched controls attending normal primary schools were investigated using kinematic movement analysis of fine-motor performance. Three hypotheses about the nature of the motor deficits obs

  12. Dietary component isorhamnetin is a PPARγ antagonist and ameliorates metabolic disorders induced by diet or leptin deficiency.

    Science.gov (United States)

    Zhang, Yu; Gu, Ming; Cai, Wujie; Yu, Lijing; Feng, Li; Zhang, Lu; Zang, Qingqing; Wang, Yahui; Wang, Dongshan; Chen, Hui; Tong, Qingchun; Ji, Guang; Huang, Cheng

    2016-01-18

    Studies on peroxisome proliferator-activated receptor (PPAR)-γ ligands have been focused on agonists. However, PPARγ activation may induce obesity and nonalcoholic fatty liver disease (NAFLD), one of the most challenging medical conditions. Here, we identified that isorhamnetin, a naturally occurring compound in fruits and vegetables and the metabolite of quercetin, is a novel antagonist of PPARγ. Isorhamnetin treatment inhibited the adipocyte differentiation induced by the PPARγ agonist rosiglitazone, reduced obesity development and ameliorated hepatic steatosis induced by both high-fat diet treatment and leptin deficiency. Our results suggest that dietary supplement of isorhamnetin may be beneficial to prevent obesity and steatosis and PPARγ antagonists may be useful to treat hepatic steatosis.

  13. Influence of testosterone replacement therapy on metabolic disorders in male patients with type 2 diabetes mellitus and androgen deficiency.

    Science.gov (United States)

    Janjgava, Shota; Zerekidze, Tamar; Uchava, Lasha; Giorgadze, Elene; Asatiani, Ketevan

    2014-10-23

    Multiple epidemiological studies have shown that low testosterone levels are associated with and predict the future development of type 2 diabetes mellitus and the metabolic syndrome. The aim of our study was to show the influence of testosterone replacement therapy on obesity, HbA1c level, hypertension and dyslipidemia in patients with diabetes mellitus and androgen deficiency. One hundred and twenty-five male patients with diabetes mellitus were screened; 85 subjects aged 41 to 65 years, with BMI from 27.0 to 48.0 kg/m(2), were randomized in a placebo-controlled study. They also underwent a routine physical examination and selected by free testosterone examination. We divided patients into two groups: 1) treatment group, where we used diet, physical activity, patient's antidiabetic therapy and testosterone replacement therapy; 2) placebo group, where we used diet, physical activity, patient's antidiabetic therapy and placebo. After 6 months of treatment we repeated the diagnostic assessments: lipid profile was improved in both groups but in first group it was clinically significant. Free testosterone level increased in all groups, but in group I was clinically significant. HbA1c decreased in both groups, but in group I we obtained the best result. Leptin level after treatment was approximately the same in both groups. Also, blood pressure was reduced in both groups but results were similar. Our study demonstrated that it is possible to break this metabolic vicious circle by raising testosterone levels in diabetic men with androgen deficiency. Re-instituting physiological levels of testosterone, as the study has shown, has an important role in reducing the prevalence of diabetic complications.

  14. Proximal Focal Femoral Deficiency

    OpenAIRE

    Vishal Kalia, Vibhuti

    2008-01-01

    Proximal focal femoral deficiency (PFFD) is a developmental disorder of the proximal segment of thefemur and of acetabulum resulting in shortening of the affected limb and impairment of the function. It isa spectrum of congenital osseous anomalies characterized by a deficiency in the structure of the proximalfemur. The diagnosis is often made by radiological evaluation which includes identification and descriptionof PFFD and evaluation of associated limb anomalies by plain radiographs. Contra...

  15. Protean manifestations of vitamin D deficiency, part 3: association with cardiovascular disease and disorders of the central and peripheral nervous systems.

    Science.gov (United States)

    Bell, David S H

    2011-05-01

    Vitamin D deficiency is associated with the risk factors of inflammation, insulin resistance and endothelial dysfunction, and left ventricular hypertrophy. As a result there is an increase in cardiovascular events (CVEs) associated with vitamin D deficiency. Vitamin D deficiency itself or secondary hyperparathyroidism or both may be responsible for the increase in CVEs. Correction of vitamin D deficiency may decrease the incidence of CVEs. Vitamin D deficiency is also associated with Alzheimer disease, schizophrenia, depression, and chronic pain and muscle weakness. Vitamin D deficiency is early treated with oral vitamin D supplements which may improve the manifestations of the diseases associated with vitamin D deficiency.

  16. Effect of l-Arginine in One Patient with Peroxisome Biogenesis Disorder due to PEX12 Deficiency.

    Science.gov (United States)

    Sorlin, Arthur; Briand, Gilbert; Cheillan, David; Wiedemann, Arnaud; Montaut-Verient, Bettina; Schmitt, Emmanuelle; Feillet, François

    2016-06-01

    Peroxisome biogenesis disorders (PBD) are a heterogeneous group of disorders due to PEX genes mutations, with a broad clinical spectrum comprising severe neonatal disease to mild presentation. Recently, Berendse et al reported an improvement of peroxisomal functions with l-arginine supplementation in fibroblasts with specific mutations of PEX1, PEX6, and PEX12. We report the first treatment by l-arginine in a patient homozygous for the specific PEX12 mutation shown to be l-arginine responsive in fibroblasts. We described the effect of l-arginine on biochemical (decrease of some plasma peroxisomal parameters) and neurophysiological (improvement of deafness) parameters. Some subjective clinical effects have also been observed (no more sialorrhea, behavior improvement). More studies are needed to assess the efficacy of l-arginine in some PBD patients with specific mutations.

  17. Structure–Biological Function Relationship Extended to Mitotic Arrest-Deficient 2-Like Protein Mad2 Native and Mutants-New Opportunity for Genetic Disorder Control

    Science.gov (United States)

    Avram, Speranta; Milac, Adina; Mernea, Maria; Mihailescu, Dan; Putz, Mihai V.; Buiu, Catalin

    2014-01-01

    Overexpression of mitotic arrest-deficient proteins Mad1 and Mad2, two components of spindle assembly checkpoint, is a risk factor for chromosomal instability (CIN) and a trigger of many genetic disorders. Mad2 transition from inactive open (O-Mad2) to active closed (C-Mad2) conformations or Mad2 binding to specific partners (cell-division cycle protein 20 (Cdc20) or Mad1) were targets of previous pharmacogenomics studies. Here, Mad2 binding to Cdc20 and the interconversion rate from open to closed Mad2 were predicted and the molecular features with a critical contribution to these processes were determined by extending the quantitative structure-activity relationship (QSAR) method to large-size proteins such as Mad2. QSAR models were built based on available published data on 23 Mad2 mutants inducing CIN-related functional changes. The most relevant descriptors identified for predicting Mad2 native and mutants action mechanism and their involvement in genetic disorders are the steric (van der Waals area and solvent accessible area and their subdivided) and energetic van der Waals energy descriptors. The reliability of our QSAR models is indicated by significant values of statistical coefficients: Cross-validated correlation q2 (0.53–0.65) and fitted correlation r2 (0.82–0.90). Moreover, based on established QSAR equations, we rationally design and analyze nine de novo Mad2 mutants as possible promoters of CIN. PMID:25411801

  18. Structure–Biological Function Relationship Extended to Mitotic Arrest-Deficient 2-Like Protein Mad2 Native and Mutants-New Opportunity for Genetic Disorder Control

    Directory of Open Access Journals (Sweden)

    Speranta Avram

    2014-11-01

    Full Text Available Overexpression of mitotic arrest-deficient proteins Mad1 and Mad2, two components of spindle assembly checkpoint, is a risk factor for chromosomal instability (CIN and a trigger of many genetic disorders. Mad2 transition from inactive open (O-Mad2 to active closed (C-Mad2 conformations or Mad2 binding to specific partners (cell-division cycle protein 20 (Cdc20 or Mad1 were targets of previous pharmacogenomics studies. Here, Mad2 binding to Cdc20 and the interconversion rate from open to closed Mad2 were predicted and the molecular features with a critical contribution to these processes were determined by extending the quantitative structure-activity relationship (QSAR method to large-size proteins such as Mad2. QSAR models were built based on available published data on 23 Mad2 mutants inducing CIN-related functional changes. The most relevant descriptors identified for predicting Mad2 native and mutants action mechanism and their involvement in genetic disorders are the steric (van der Waals area and solvent accessible area and their subdivided and energetic van der Waals energy descriptors. The reliability of our QSAR models is indicated by significant values of statistical coefficients: Cross-validated correlation q2 (0.53–0.65 and fitted correlation r2 (0.82–0.90. Moreover, based on established QSAR equations, we rationally design and analyze nine de novo Mad2 mutants as possible promoters of CIN.

  19. Genetics Home Reference: primary carnitine deficiency

    Science.gov (United States)

    ... Filippo CA, Pasquali M, Berry SA, Longo N. Expanded newborn screening identifies maternal primary carnitine deficiency. Mol ... deficiency disorders in children. Ann N Y Acad Sci. 2004 Nov;1033:42-51. Review. Citation on ...

  20. Genetics Home Reference: ataxia with vitamin E deficiency

    Science.gov (United States)

    ... Home Health Conditions ataxia with vitamin E deficiency ataxia with vitamin E deficiency Printable PDF Open All ... Javascript to view the expand/collapse boxes. Description Ataxia with vitamin E deficiency is a disorder that ...

  1. Genetics Home Reference: alpha-methylacyl-CoA racemase deficiency

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions AMACR deficiency alpha-methylacyl-CoA racemase deficiency Enable Javascript to view ... boxes. Download PDF Open All Close All Description Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder ...

  2. Autism as a disorder of deficiency of brain-derived neurotrophic factor and altered metabolism of polyunsaturated fatty acids.

    Science.gov (United States)

    Das, Undurti N

    2013-10-01

    Autism has a strong genetic and environmental basis in which inflammatory markers and factors concerned with synapse formation, nerve transmission, and information processing such as brain-derived neurotrophic factor (BDNF), polyunsaturated fatty acids (PUFAs): arachidonic (AA), eicosapentaenoic (EPA), and docosahexaenoic acids (DHA) and their products and neurotransmitters: dopamine, serotonin, acetylcholine, γ-aminobutyric acid, and catecholamines and cytokines are altered. Antioxidants, vitamins, minerals, and trace elements are needed for the normal metabolism of neurotrophic factors, eicosanoids, and neurotransmitters, supporting reports of their alterations in autism. But, the exact relationship among these factors and their interaction with genes and proteins concerned with brain development and growth is not clear. It is suggested that maternal infections and inflammation and adverse events during intrauterine growth of the fetus could lead to alterations in the gene expression profile and proteomics that results in dysfunction of the neuronal function and neurotransmitters, alteration(s) in the metabolism of PUFAs and their metabolites resulting in excess production of proinflammatory eicosanoids and cytokines and a deficiency of anti-inflammatory cytokines and bioactive lipids that ultimately results in the development of autism. Based on these evidences, it is proposed that selective delivery of BDNF and methods designed to augment the production of anti-inflammatory cytokines and eicosanoids and PUFAs may prevent, arrest, or reverse the autism disease process.

  3. EFFECT OF GROWTH HORMONE REPLACEMENT THERAPY ON THE QUALITY OF LIFE IN WOMEN WITH GROWTH HORMONE DEFICIENCY WHO HAVE A HISTORY OF ACROMEGALY VERSUS OTHER DISORDERS

    Science.gov (United States)

    Valassi, Elena; Brick, Danielle J.; Johnson, Jessica C.; Biller, Beverly M. K.; Klibanski, Anne; Miller, Karen K.

    2013-01-01

    Objective To compare the response in quality of life (QoL) to growth hormone (GH) replacement in women with GH deficiency (GHD) and a history of acromegaly with that in women with GHD of other causes. Methods Fifty-five women with GHD were studied: 17 with prior acromegaly and 38 with other causes of GHD. We compared two 6-month, randomized, placebo-controlled studies of GH therapy in women with hypopituitarism conducted with use of the same design—one in women with a history of acromegaly and one in women with no prior acromegaly. QoL was assessed with the following questionnaires: the QoL-Assessment of Growth Hormone deficiency in Adults (AGHDA), the Symptom Questionnaire, and the 36-Item Short-Form Health Survey (SF-36). Results The 2 groups had comparable mean pretreatment age, body mass index, and QoL scores and comparable mean GH dose at 6 months (0.61 ± 0.30 versus 0.67 ± 0.27 mg daily). After 6 months of GH replacement therapy, women with GHD and prior acromegaly demonstrated a greater improvement in AGHDA score, four SF-36 subscales (Role Limitations due to Physical Health, Energy or Fatigue, Emotional Well-Being, and Social Functioning), and the Somatic Symptoms subscale of the Symptom Questionnaire than did women with GHD of other causes. Poorer pretreatment QoL was associated with a greater improvement in QoL after administration of GH. Conclusion In this study, GH replacement therapy improved QoL in women with GHD and a history of acromegaly but not in women with GHD due to other hypothalamic and pituitary disorders. Further studies are needed to determine the long-term risks versus benefits of GH replacement in patients who develop GHD after definitive treatment for acromegaly. PMID:22440981

  4. 从虚瘀浊毒论治消渴痹证%Trea of Virtual Thirsting Disorder From Deficiency Blood Stasis Turbidity Toxin

    Institute of Scientific and Technical Information of China (English)

    王东军; 李永美; 王磊; 柴可夫

    2016-01-01

    [目的]研究消渴病痹证的重要病因病机虚、瘀、浊、毒。[方法]结合《黄帝内经》中关于消瘅和痹证的条文与《金匮要略》中的相关理论,探讨虚、瘀、浊、毒在消渴痹证发病中的相互作用。同时,以桂枝芍药知母汤的临床医案进一步说明祛浊化毒、扶正补虚、活血化瘀之法在消渴病合并痹证治疗中的应用。[结果]虚、瘀、浊、毒能很好地体现消渴痹证的病机,虚、瘀、浊、毒在消渴病痹证衍化过程中是联动的整体,桂枝芍药知母汤论治消渴痹证符合虚、瘀、浊、毒的的病机。[结论]消渴痹证的病机为虚瘀浊毒,全面认识四者在消渴痹证发病中的关系,有利于提高对该病的认识。%Objective]To study the deficiency, blood stasis and turbidity, drug abuse each other is the important cause of diabetic peripheral neuropathy. [Methods]Combination of Huangdi Neijing provisions about despair an illusion of elimination and poliomyelitis in the important theory and formula, and the synopsis discusses deficiency, blood stasis and turbidity, poison in collateral to incorporate the interaction in the onset of poliomyelitis, and connecting with the application of cassia twig peony rhizoma anemarrhenae decoction clinical basis to further remove soft poison, tonify centralizer deficiency, the method for activating blood circulation in root merger poliomyelitis treatment, the application of Guizhi Shaoao Zhimu Decoction according to clinical cases the method has its principle, counterevidence deficiency, blood stasis and turbidity, drug abuse each other are collateral material combination of poliomyelitis key factors of the disease. [Results] The deficiency, blood stasis, phlegm and toxin are metabolic disorder of qi-blood pathological product of four influence each other, each other cause and effect. Phlegm, blood stasis, turbidity, toxin are the key of pathological changes from the complications of

  5. The effect of leptin replacement on sleep-disordered breathing in the leptin-deficient ob/ob mouse.

    Science.gov (United States)

    Pho, H; Hernandez, A B; Arias, R S; Leitner, E B; Van Kooten, S; Kirkness, J P; Schneider, H; Smith, P L; Polotsky, V Y; Schwartz, A R

    2016-01-01

    Obese leptin-deficient (ob/ob) mice demonstrate defects in upper airway structural and neuromuscular control. We hypothesized that these defects predispose to upper airway obstruction during sleep, and improve with leptin administration. High-fidelity polysomnographic recordings were conducted to characterize sleep and breathing patterns in conscious, unrestrained ob/ob mice (23 wk, 67.2 ± 4.1 g, n = 13). In a parallel-arm crossover study, we compared responses to subcutaneous leptin (1 μg/h) vs. vehicle on respiratory parameters during NREM and REM sleep. Upper airway obstruction was defined by the presence of inspiratory airflow limitation (IFL), as characterized by an early inspiratory plateau in airflow at a maximum level (V̇Imax) with increasing effort. The severity of upper airway obstruction (V̇Imax) was assessed along with minute ventilation (V̇E), tidal volume (VT), respiratory rate (RR), inspiratory duty cycle, and mean inspiratory flow at each time point. IFL occurred more frequently in REM sleep (37.6 ± 0.2% vs. 1.1 ± 0.0% in NREM sleep, P leptin did not alter its frequency. V̇Imax (3.7 ± 1.1 vs. 2.7 ± 0.8 ml/s, P leptin vs. vehicle administration. The increase in V̇E was due to a significant increase in VT (0.20 ± 0.06 vs. 0.16 ± 0.05 ml, P leptin stabilized pharyngeal patency and increased drive to both the upper airway and diaphragm during sleep.

  6. Children with Developmental Coordination Disorder are deficient in a visuo-manual tracking task requiring predictive control.

    Science.gov (United States)

    Ferguson, G D; Duysens, J; Smits-Engelsman, B C M

    2015-02-12

    The aim of this study was to examine how feedback, or its absence, affects children with Developmental Coordination Disorder (DCD) during a visuo-manual tracking task. This cross-sectional study included 40 children with DCD and 40 typically developing (TD) children between 6 and 10 years old. Participants were required to track a target moving along a circular path presented on a monitor by moving an electronic pen on a digitizing tablet. The task was performed under two visibility conditions (target visible throughout the trajectory and target intermittently occluded) and at two different target velocities (30° and 60° per second). Variables reflecting tracking success and tracking behavior within the target were compared between groups. Results showed that children with DCD were less proficient in tracking a moving target than TD children. Their performance deteriorated even more when the target was occluded and when the target speed increased. The mean tracking speed of the DCD group exceeded the speed at which the target rotated which was attributed to accelerations and decelerations made during tracking. This suggests that children with DCD have significant difficulties in visuo-manual tracking especially when visual feedback is reduced. It appears that their impaired ability to predict together with impairments in fine-tuning arm movements may be responsible for poor performance in the intermittently occluded visuo-manual tracking task.

  7. THE DISORDERS OF THE LIPID METABOLISM IN THE EXPERIMENTAL ESTROGENIC DEFICIENCY AND THE EFFECT OF THE VEGETAL ANTIOXIDANTS DIET

    Directory of Open Access Journals (Sweden)

    Daniela Badoi

    2012-03-01

    Full Text Available In our days we have a great number of cardiovascular diseases with atherosclerotic etiopathogeny. That`s whythere is a important preocupation for identifying the atherogenic risk factors (lipid metabolism disorders. This studyfollows the effects of the ovarian hormones deficit in surgical menopause (experimental ovariectomy. The absence of theendogen estrogens disrupts the lipid metabolism and diminishes the antioxidant capacity. Another goal was to evaluatethe lipid profile improved by taking a flax seed diet rich in phytoestrogens. The experiment will be performed on whiterats, females, of the Wistar race. The supplementary diet with flax seeds will be administered to the ovariectomizedgroups as well as to the control groups. In the case of animals with a hormonal deficit (ovariectomy we found thepresence of dyslipidemia: hypercholesterolemia and/or hypertriglyceridemia. Supplementing the diet with flax seeds ledto the decreasing of the total seric cholesterol (p>0.05 and of the seric triglycerides (p0.05, after supplementing the diet with whole flax seeds, which suggests the protection of theendothelium, with the diminishing of the risk of triggering endothelial dysfunction. These results demonstrate thebeneficial effects of phytoestrogens from flax seed on lipid metabolism in experimental menopause.

  8. Newborn screening for MCAD deficiency

    DEFF Research Database (Denmark)

    Horvath, Gabriella A; Davidson, A G F; Stockler-Ipsiroglu, Sylvia G

    2008-01-01

    BACKGROUND: Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency is an autosomal recessive disorder of fatty acid oxidation, with potential fatal outcome. MCAD deficiency is diagnosed by acylcarnitine analysis on newborn screening blood spot cards by tandem mass spectrometry. Early diagnosis of ...

  9. 2005-2010年沈阳市碘缺乏病监测分析%Monitoring of iodine deficiency disorders in Shenyang City from 2005-2010

    Institute of Scientific and Technical Information of China (English)

    刘长晟; 徐守旗; 于美娜; 苏孟; 丁聪

    2012-01-01

    目的 掌握2005-2010年沈阳市居民碘营养情况,及时发现存在的问题,为政府制定碘缺乏病防治策略提供依据.方法 按照《全国碘缺乏病监测方案》要求,碘盐监测选取批发企业和居民用户为监测对象;病情监测选取8~10岁儿童和成人为监测对象.结果 沈阳市市级碘盐批发企业和各县区碘盐批发企业碘盐合格率和批质量合格率均为100%.居民用户碘盐合格率、碘盐覆盖率、合格碘盐食用率均在95%以上,非碘盐率小于3%.儿童甲状腺肿大率触诊检查从2005年开始均低于5%.儿童和成人尿碘中位数未见明显差别,均处于碘营养适宜水平,尿碘小于50μg/L的比例为0.8%.结论 从沈阳市历年碘盐监测结果来看,沈阳市居民碘营养水平已经持续稳定在国家消除碘缺乏病标准以内.%[Objective] To understand the iodine nutrition situation of residents in Shenyang City from 2005-2010, to identify the existing problem timely, and provide evidence for government to develop iodine deficiency disorders control strategies. [Methods]In accordance with the requirements of the" National Iodine Deficiency Disorders Surveillance Program", wholesale enterprises and residents were selected as iodized salt monitoring objects, children aged 8-10 years and adults were recruited as disease monitoring objects. [Results] Iodized salt passing rate and batches passing rate of Shenyang municipal and county level iodized salt wholesale enterprises were all 100%. Passing rale of iodized salt among residents, coverage rate of iodized salt and consumption rate of qualified iodized salt were all above 95% , non-iodized salt rate was less than 3%. Goiter rate of children by palpation was lower than 5% since 2005. The median of urinary iodine was not significantly different between children and adults, it was at the appropriate level of iodine nutrition, urinary iodine <50 μg / L accounted for 0 . 8%. [ Conclusion] The

  10. Does Periconceptional Fish Consumption by Parents Affect the Incidence of Autism Spectrum Disorder and Intelligence Deficiency? A Case-control Study in Tianjin, China

    Institute of Scientific and Technical Information of China (English)

    GAO Lei; CUI Shan Shan; HAN Yu; DAI Wei; SU Yuan Yuan; ZHANG Xin

    2016-01-01

    Objective This study aimed to explore the association between periconceptional fish consumption by parents and autism spectrum disorder (ASD) and intelligence deficiency (ID). Methods A case-control study was conducted through a questionnaire with 108 ASD cases, 79 ID cases, and 108 controls. The ASD and ID cases were students from special educational schools in Tianjin from 2012 to 2014. The age- and sex-matched controls were from a high school, three primary schools, and a kindergarten in Tianjin. Multivariate logistic regression was performed. Results Paternal habit of eating hairtail before fertilization, maternal preference for fruits during pregnancy, and maternal habit of eating grass carp during pregnancy were preventive factors for ASD. Paternal habit of drinking alcohol before fertilization was a risk factor for ID, whereas maternal preference for fruits during pregnancy and maternal habit of eating crucian carp during pregnancy were protective factors for ID. Conclusion Parental fish consumption is beneficial for the prevention of ASD and ID. Meanwhile, the protective effects of fish consumption on ASD and ID differ. More attention should be paid to the combined effect of other food when eating fish.

  11. 重庆市消除碘缺乏病阶段目标评估%SUMMARY OF EVALUATION OF THE PHASE TARGET OF ELIMINATION IDD OF CHINGQING

    Institute of Scientific and Technical Information of China (English)

    蒋诗国; 肖邦忠; 李心术; 陈静; 皮运科; 吴成果; 杜恒雁; 肖鹏

    2001-01-01

    Objective: In order to master the course of preventing work and provide scientific basis for setting down preventing strategy, the govemments and correlative departments of establishing continual mechanism of eliminating IDD were evaluated and examined. Methods: Use sampling qusetionair investigation. Every county evaluated itself and the municipality of Chingqing examined every counties on the base of it. Rusults: The mark of every county was more than 85. The salt-iodine quality rate of 2 factorise of iodine salt came up to more than 90%. The rate of wholesale corporations was more than 90% among 39 counties in 97.5%. The rate of dwellers was more than 90% among 35 counties in 87.5%. The median of urine iodine was above 100μg/L; the child goitre rate was less than 10% among 11 counties in 27.5%; the rate was 10%~19.9% among 27 counties in 67.5%; The rate was more than 20% among 2 counties in 5%. The municipality of Chingqing checked 20 counties. The mark was more than 85 among 19 counties; The saltiodine quality rate of the factory of iodine salt was more than 90%; The rate of 19 wholesale corporations was more than 90% among 18 corporations in 97.74%; The rate of retails was more than 90%; The rate of dwellers was more than 90% among 18 counties in 90%; The median of urine iodine was above 100μg/L; The child thyroid goitre rate of no county was less than 10%, The rate was 10%~19.9% among 19 counties. The rate was more than 20% among 1 county. Conclusions: According to the standard of eliminating IDD, there is no county of carrying out the phase target of eliminating IDD; There are 17 counties of basically carrying out the phase target of eliminating IDD; The are 23 counties of not carrying out the phase target of eliminating IDD.%目的:评估考核各级政府和相关部门是否建立了可持续消除碘缺乏病的工作机制,掌握防治工作进程,为制定防治策略提供科学依据。方法:采用抽样问卷调查,以区县

  12. Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency

    OpenAIRE

    Dowsett, Leah; Lulis, Lauren; Ficicioglu, Can; Cuddapah, Sanmati

    2017-01-01

    An 18-month-old male was evaluated after presenting with disproportionately elevated liver transaminases in the setting of acute gastroenteritis. He had marked hepatomegaly on physical exam that was later confirmed with an abdominal ultrasound. Given this clinical picture, suspicion for a fatty acid oxidation disorder was raised. Further investigation revealed that his initial newborn screen was positive for carnitine palmitoyltransferase 1A (CPT1A) deficiency?a rare autosomal recessive disor...

  13. Proximal Focal Femoral Deficiency

    Directory of Open Access Journals (Sweden)

    Vishal Kalia, Vibhuti

    2008-01-01

    Full Text Available Proximal focal femoral deficiency (PFFD is a developmental disorder of the proximal segment of thefemur and of acetabulum resulting in shortening of the affected limb and impairment of the function. It isa spectrum of congenital osseous anomalies characterized by a deficiency in the structure of the proximalfemur. The diagnosis is often made by radiological evaluation which includes identification and descriptionof PFFD and evaluation of associated limb anomalies by plain radiographs. Contrast arthrography orMagnetic Resonance Imaging is indicated when radiological features are questionable and to disclose thepresence and location of the femoral head and any cartilagenous anlage. The disorder is more commonlyunilateral and is apparent at birth. However, bilateral involvement is rarely seen. Therapy of the disorder isdirected towards satisfactory ambulation and specific treatment depending on the severity of dysplasia.

  14. Where Environment Meets Cognition: A Focus on Two Developmental Intellectual Disability Disorders

    Directory of Open Access Journals (Sweden)

    I. De Toma

    2016-01-01

    Full Text Available One of the most challenging questions in neuroscience is to dissect how learning and memory, the foundational pillars of cognition, are grounded in stable, yet plastic, gene expression states. All known epigenetic mechanisms such as DNA methylation and hydroxymethylation, histone modifications, chromatin remodelling, and noncoding RNAs regulate brain gene expression, both during neurodevelopment and in the adult brain in processes related to cognition. On the other hand, alterations in the various components of the epigenetic machinery have been linked to well-known causes of intellectual disability disorders (IDDs. Two examples are Down Syndrome (DS and Fragile X Syndrome (FXS, where global and local epigenetic alterations lead to impairments in synaptic plasticity, memory, and learning. Since epigenetic modifications are reversible, it is theoretically possible to use epigenetic drugs as cognitive enhancers for the treatment of IDDs. Epigenetic treatments act in a context specific manner, targeting different regions based on cell and state specific chromatin accessibility, facilitating the establishment of the lost balance. Here, we discuss epigenetic studies of IDDs, focusing on DS and FXS, and the use of epidrugs in combinatorial therapies for IDDs.

  15. Vitamin B12 deficiency.

    Science.gov (United States)

    Oh, Robert; Brown, David L

    2003-03-01

    Vitamin B12 (cobalamin) deficiency is a common cause of macrocytic anemia and has been implicated in a spectrum of neuropsychiatric disorders. The role of B12 deficiency in hyperhomocysteinemia and the promotion of atherosclerosis is only now being explored. Diagnosis of vitamin B12 deficiency is typically based on measurement of serum vitamin B12 levels; however, about 50 percent of patients with subclinical disease have normal B12 levels. A more sensitive method of screening for vitamin B12 deficiency is measurement of serum methylmalonic acid and homocysteine levels, which are increased early in vitamin B12 deficiency. Use of the Schilling test for detection of pernicious anemia has been supplanted for the most part by serologic testing for parietal cell and intrinsic factor antibodies. Contrary to prevailing medical practice, studies show that supplementation with oral vitamin B12 is a safe and effective treatment for the B12 deficiency state. Even when intrinsic factor is not present to aid in the absorption of vitamin B12 (pernicious anemia) or in other diseases that affect the usual absorption sites in the terminal ileum, oral therapy remains effective.

  16. Melatonina y deficiencia de hormona de crecimiento: contribucin a la evaluacin de los desrdenes neuroendocrinos Melatonin and growth hormone deficiency: a contribution to the evaluation of neuroendocrine disorders

    Directory of Open Access Journals (Sweden)

    G Fideleff

    2011-10-01

    . This led us to evaluate 6-SM concentrations in GH deficient children and adults on and off adequate replacement therapy. One of the major aspects of this study has been the evaluation of baseline 6-SM concentrations, with no physiological or pharmacological stimulation. Even if under the conditions of this study we found no differences in nocturnal excretion of 6-SM between untreated and treated GHD individuals in both groups, this does not rule out the potential existence of differences that might be detected by studying diurnal melatonin secretion and its difference with nocturnal secretion. Such studies may contribute to an understanding of potential chronobiological disorders involved in GH deficiency.

  17. The dilemma of the gender assignment in a Portuguese adolescent with disorder of sex development due to 17β-hydroxysteroid-dehydrogenase type 3 enzyme deficiency.

    Science.gov (United States)

    Costa, Carla; Castro-Correia, Cíntia; Mira-Coelho, Alda; Monteiro, Bessa; Monteiro, Joaquim; Hughes, Ieuan; Fontoura, Manuel

    2014-01-01

    The development of male internal and external genitalia in an XY fetus requires a complex interplay of many critical genes, enzymes, and cofactors. The enzyme 17β-hydroxysteroid-dehydrogenase type 3 (17βHSD3) is present almost exclusively in the testicles and converts Delta 4-androstenodione (Δ4) to testosterone. A deficiency in this enzyme is rare and is a frequently misdiagnosed autosomal recessive cause of 46,XY, disorder of sex development. The case report is of a 15-year-old adolescent, who was raised according to female gender. At puberty, the adolescent had a severe virilization and primary amenorrhea. The physical examination showed a male phenotype with micropenis and blind vagina. The Tanner stage was A3B1P4, nonpalpable gonads. The karyotype revealed 46,XY. The endocrinology study revealed: testosterone=2.38 ng/ml, Δ4>10.00 ng/ml, and low testosterone/Δ4 ratio=0.23. Magnetic resonance imaging of the abdominal-pelvic showed the presence of testicles in inguinal canal, seminal vesicle, prostate, micropenis, and absence of uterus and vagina. The genetic study confirmed the mutation p.Glu215Asp on HSD17B3 gene in homozygosity. The dilemma of sex reassignment was seriously considered when the diagnosis was made. During all procedures the patient was accompanied by a child psychiatrist/psychologist. The teenager desired to continue being a female, so gonadectomy was performed. Estrogen therapy and surgical procedure to change external genitalia was carried out. In this case, there was a severe virilization at puberty. It is speculated to be due to a partial activity of 17βHSD3 in the testicles and/or extratesticular ability to convert Δ4 to testosterone by 17βHSD5. Prenatal exposure of the brain to androgens has increasingly been put forward as a critical factor in gender identity development, but in this case the social factor was more important for the gender assignment. In this case, we highlight the late diagnosis, probably because the patient

  18. Orexin deficiency and narcolepsy

    OpenAIRE

    Sakurai, Takeshi

    2013-01-01

    Orexin deficiency results in the sleep disorder narcolepsy in many mammalian species, including mice, dogs, and humans, suggesting that the orexin system is particularly important for normal regulation of sleep/wakefulness states, and especially for maintenance of wakefulness. This review discusses animal models of narcolepsy; the contribution of each orexin receptor subtype to the narcoleptic phenotypes; and the etiology of orexin neuronal death. It also raises the possibility of novel thera...

  19. Results of monitoring of iodine deficiency disorder in Dongfang City in 2010%2010年东方市碘缺乏病监测分析

    Institute of Scientific and Technical Information of China (English)

    苏定志

    2011-01-01

    Objective To understand the status of iodine deficiency disorder and coverage in residents of Dongfang City in 2010. Methods The status of iodine dificiency disorder in 8 ~10 years old children in three townships with low iodine-containing salt coverage and the idoine concentrations in urine of child-bearing age women were monitored. In addition the idonie-containing salt consumption by the residents in the whole city was also surveyed. Results Totally 240 children aged 8 ~10 years were detected and the goitre rates detected by palpation were 3.75% and 0 by B ultrasomogaph. The median urine iodine in children was 134.4μg/L,the proportion of less than <50μg/L and <100μg/L were 6.7% and 29.6%. While the median urine iodine for women of child-bearing age were 157.8μg/,and the proportion of less than <50μg/L and <100μg/Lwere 4.2% and 18.3%. The IQ score for the children was 96.6±14.5 and the iodine-containing salt coverage was 95.83% an increase of 56.25% compared to 2007. The intake of qualified iosine-containing salt was95.14% an increase of 58.33% compared to 2007. Conclusion The converage of iodine-containing salt intake by the residents in Dongfang City has been continuously enhanced and the iodine nutrition in children and women of child-bearing age have been improved and the goitre rate in children dropped to normal.%目的 了解东方市居民碘盐普及情况及碘缺乏病病情现况.方法 在东方市3个碘盐覆盖率较低的乡镇开展8~10岁儿童碘缺乏病病情监测、育龄妇女尿碘监测,在全市开展居民碘盐食用情况监测.结果 检测8~10岁儿童240人,触诊法检测甲状腺肿大率为3.75%,B超法检测甲状腺肿大率为0.00%;儿童尿碘中位数为134.4μg/L,育龄妇女尿碘中位数为157.8μg/,儿童智商分值96.6±14.5;碘盐覆盖率95.83%,较2007年提高了56.25个百分点,合格碘盐食用率95.14%,较2007年提高了58.33个百分点.结论 东方市近几年来居民碘

  20. Immunological characterization and transcription profiling of peripheral blood (PB) monocytes in children with autism spectrum disorders (ASD) and specific polysaccharide antibody deficiency (SPAD): case study

    Science.gov (United States)

    2012-01-01

    Introduction There exists a small subset of children with autism spectrum disorders (ASD) characterized by fluctuating behavioral symptoms and cognitive skills following immune insults. Some of these children also exhibit specific polysaccharide antibody deficiency (SPAD), resulting in frequent infection caused by encapsulated organisms, and they often require supplemental intravenous immunoglobulin (IVIG) (ASD/SPAD). This study assessed whether these ASD/SPAD children have distinct immunological findings in comparison with ASD/non-SPAD or non-ASD/SPAD children. Case description We describe 8 ASD/SPAD children with worsening behavioral symptoms/cognitive skills that are triggered by immune insults. These ASD/SPAD children exhibited delayed type food allergy (5/8), treatment-resistant seizure disorders (4/8), and chronic gastrointestinal (GI) symptoms (5/8) at high frequencies. Control subjects included ASD children without SPAD (N = 39), normal controls (N = 37), and non-ASD children with SPAD (N = 12). Discussion and Evaluation We assessed their innate and adaptive immune responses, by measuring the production of pro-inflammatory and counter-regulatory cytokines by peripheral blood mononuclear cells (PBMCs) in responses to agonists of toll like receptors (TLR), stimuli of innate immunity, and T cell stimulants. Transcription profiling of PB monocytes was also assessed. ASD/SPAD PBMCs produced less proinflammatory cytokines with agonists of TLR7/8 (IL-6, IL-23), TLR2/6 (IL-6), TLR4 (IL-12p40), and without stimuli (IL-1ß, IL-6, and TNF-α) than normal controls. In addition, cytokine production of ASD/SPAD PBMCs in response to T cell mitogens (IFN-γ, IL-17, and IL-12p40) and candida antigen (Ag) (IL-10, IL-12p40) were less than normal controls. ASD/non-SPAD PBMDs revealed similar results as normal controls, while non-ASD/SPAD PBMCs revealed lower production of IL-6, IL-10 and IL-23 with a TLR4 agonist. Only common features observed between ASD/SPAD and non

  1. Immunological characterization and transcription profiling of peripheral blood (PB monocytes in children with autism spectrum disorders (ASD and specific polysaccharide antibody deficiency (SPAD: case study

    Directory of Open Access Journals (Sweden)

    Jyonouchi Harumi

    2012-01-01

    Full Text Available Abstract Introduction There exists a small subset of children with autism spectrum disorders (ASD characterized by fluctuating behavioral symptoms and cognitive skills following immune insults. Some of these children also exhibit specific polysaccharide antibody deficiency (SPAD, resulting in frequent infection caused by encapsulated organisms, and they often require supplemental intravenous immunoglobulin (IVIG (ASD/SPAD. This study assessed whether these ASD/SPAD children have distinct immunological findings in comparison with ASD/non-SPAD or non-ASD/SPAD children. Case description We describe 8 ASD/SPAD children with worsening behavioral symptoms/cognitive skills that are triggered by immune insults. These ASD/SPAD children exhibited delayed type food allergy (5/8, treatment-resistant seizure disorders (4/8, and chronic gastrointestinal (GI symptoms (5/8 at high frequencies. Control subjects included ASD children without SPAD (N = 39, normal controls (N = 37, and non-ASD children with SPAD (N = 12. Discussion and Evaluation We assessed their innate and adaptive immune responses, by measuring the production of pro-inflammatory and counter-regulatory cytokines by peripheral blood mononuclear cells (PBMCs in responses to agonists of toll like receptors (TLR, stimuli of innate immunity, and T cell stimulants. Transcription profiling of PB monocytes was also assessed. ASD/SPAD PBMCs produced less proinflammatory cytokines with agonists of TLR7/8 (IL-6, IL-23, TLR2/6 (IL-6, TLR4 (IL-12p40, and without stimuli (IL-1ß, IL-6, and TNF-α than normal controls. In addition, cytokine production of ASD/SPAD PBMCs in response to T cell mitogens (IFN-γ, IL-17, and IL-12p40 and candida antigen (Ag (IL-10, IL-12p40 were less than normal controls. ASD/non-SPAD PBMDs revealed similar results as normal controls, while non-ASD/SPAD PBMCs revealed lower production of IL-6, IL-10 and IL-23 with a TLR4 agonist. Only common features observed between ASD/SPAD and non

  2. Iodine Deficiency

    Science.gov (United States)

    ... 0 Iodine Daily Serving now recommended in Multivitamin/Mineral Supplements for Pregnant and Lactating Women By ATA | 2015 News Releases , Iodine Deficiency , News Releases , Thyroid Disease and Pregnancy | No Comments Falls Church, February 10, 2015 —The ...

  3. Iron deficiency.

    Science.gov (United States)

    Scrimshaw, N S

    1991-10-01

    The world's leading nutritional problem is iron deficiency. 66% of children and women aged 15-44 years in developing countries have it. Further, 10-20% of women of childbearing age in developed countries are anemic. Iron deficiency is identified with often irreversible impairment of a child's learning ability. It is also associated with low capacity for adults to work which reduces productivity. In addition, it impairs the immune system which reduces the body's ability to fight infection. Iron deficiency also lowers the metabolic rate and the body temperature when exposed to cold. Hemoglobin contains nearly 73% of the body's iron. This iron is always being recycled as more red blood cells are made. The rest of the needed iron does important tasks for the body, such as binds to molecules that are reservoirs of oxygen for muscle cells. This iron comes from our diet, especially meat. Even though some plants, such as spinach, are high in iron, the body can only absorb 1.4-7% of the iron in plants whereas it can absorb 20% of the iron in red meat. In many developing countries, the common vegetarian diets contribute to high rates of iron deficiency. Parasitic diseases and abnormal uterine bleeding also promote iron deficiency. Iron therapy in anemic children can often, but not always, improve behavior and cognitive performance. Iron deficiency during pregnancy often contributes to maternal and perinatal mortality. Yet treatment, if given to a child in time, can lead to normal growth and hinder infections. However, excess iron can be damaging. Too much supplemental iron in a malnourished child promotes fatal infections since the excess iron is available for the pathogens use. Many countries do not have an effective system for diagnosing, treating, and preventing iron deficiency. Therefore a concerted international effort is needed to eliminate iron deficiency in the world.

  4. Depression diagnoses following the identification of bipolar disorder: costly incongruent diagnoses

    Directory of Open Access Journals (Sweden)

    Schultz Jennifer F

    2010-06-01

    Full Text Available Abstract Background Previous research has documented that the symptoms of bipolar disorder are often mistaken for unipolar depression prior to a patient's first bipolar diagnosis. The assumption has been that once a patient receives a bipolar diagnosis they will no longer be given a misdiagnosis of depression. The objectives of this study were 1 to assess the rate of subsequent unipolar depression diagnosis in individuals with a history of bipolar disorder and 2 to assess the increased cost associated with this potential misdiagnosis. Methods This study utilized a retrospective cohort design using administrative claims data from 2002 and 2003. Patient inclusion criteria for the study were 1 at least 2 bipolar diagnoses in 2002, 2 continuous enrollment during 2002 and 2003, 3 a pharmacy benefit, and 4 age 18 to 64. Patients with at least 2 unipolar depression diagnoses in 2003 were categorized as having an incongruent diagnosis of unipolar depression. We used propensity scoring to control for selection bias. Utilization was evaluated using negative binomial models. We evaluated cost differences between patient cohorts using generalized linear models. Results Of the 7981 patients who met all inclusion criteria for the analysis, 17.5% (1400 had an incongruent depression diagnosis (IDD. After controlling for background differences, individuals who received an IDD had higher rates of inpatient and outpatient psychiatric utilization and cost, on average, an additional $1641 per year compared to individuals without an IDD. Conclusions A strikingly high proportion of bipolar patients are given the differential diagnosis of unipolar depression after being identified as having bipolar disorder. Individuals with an IDD had increased acute psychiatric care services, suggesting higher levels of relapses, and were at risk for inappropriate treatment, as antidepressant therapy without a concomitant mood-stabilizing medication is contraindicated in bipolar

  5. Nutritional deficiencies after bariatric surgery.

    Science.gov (United States)

    Bal, Bikram S; Finelli, Frederick C; Shope, Timothy R; Koch, Timothy R

    2012-09-01

    Lifestyle intervention programmes often produce insufficient weight loss and poor weight loss maintenance. As a result, an increasing number of patients with obesity and related comorbidities undergo bariatric surgery, which includes approaches such as the adjustable gastric band or the 'divided' Roux-en-Y gastric bypass (RYGB). This Review summarizes the current knowledge on nutrient deficiencies that can develop after bariatric surgery and highlights follow-up and treatment options for bariatric surgery patients who develop a micronutrient deficiency. The major macronutrient deficiency after bariatric surgery is protein malnutrition. Deficiencies in micronutrients, which include trace elements, essential minerals, and water-soluble and fat-soluble vitamins, are common before bariatric surgery and often persist postoperatively, despite universal recommendations on multivitamin and mineral supplements. Other disorders, including small intestinal bacterial overgrowth, can promote micronutrient deficiencies, especially in patients with diabetes mellitus. Recognition of the clinical presentations of micronutrient deficiencies is important, both to enable early intervention and to minimize long-term adverse effects. A major clinical concern is the relationship between vitamin D deficiency and the development of metabolic bone diseases, such as osteoporosis or osteomalacia; metabolic bone diseases may explain the increased risk of hip fracture in patients after RYGB. Further studies are required to determine the optimal levels of nutrient supplementation and whether postoperative laboratory monitoring effectively detects nutrient deficiencies. In the absence of such data, clinicians should inquire about and treat symptoms that suggest nutrient deficiencies.

  6. Inositol-deficient food augments a behavioral effect of long-term lithium treatment mediated by inositol monophosphatase inhibition: an animal model with relevance for bipolar disorder.

    Science.gov (United States)

    Shtein, Liza; Agam, Galila; Belmaker, R H; Bersudsky, Yuly

    2015-04-01

    Lithium treatment in rodents markedly enhances cholinergic agonists such as pilocarpine. This effect can be reversed in a stereospecific manner by administration of inositol, suggesting that the effect of lithium is caused by inositol monophosphatase inhibition and consequent inositol depletion. If so, inositol-deficient food would be expected to enhance lithium effects. Inositol-deficient food was prepared from inositol-free ingredients. Mice with a homozygote knockout of the inositol monophosphatase 1 gene unable to synthesize inositol endogenously and mimicking lithium-treated animals were fed this diet or a control diet. Lithium-treated wild-type animals were also treated with the inositol-deficient diet or control diet. Pilocarpine was administered after 1 week of treatment, and behavior including seizures was assessed using rating scale. Inositol-deficient food-treated animals, both lithium treated and with inositol monophosphatase 1 knockout, had significantly elevated cholinergic behavior rating and significantly increased or earlier seizures compared with the controls. The effect of inositol-deficient food supports the role of inositol depletion in the effects of lithium on pilocarpine-induced behavior. However, the relevance of this behavior to other more mood-related effects of lithium is not clear.

  7. Diospyros lotus L. fruit extract protects G6PD-deficient erythrocytes from hemolytic injury in vitro and in vivo: prevention of favism disorder.

    Science.gov (United States)

    Azadbakht, M; Hosseinimehr, S J; Shokrzadeh, M; Habibi, E; Ahmadi, A

    2011-11-01

    The aim of this study was to evaluate the protective effect of Diospyros lotus L. fruit extract against the hemolytic damage induced by Vicia faba beans extract in both G6PD enzyme-deficient human and rat erythrocyte in vitro and in vivo. In the former model, venous blood samples were obtained from five subjects with known G6PD deficiency and erythrocyte hemolysis induced by Vicia faba L. bean extract was asessed spectrophotometrically in the presence and absence of Diospyros lotus L. fruits extract. In the in vivo model, G6PD-deficient rats (induced by intraperitoneal injection of dehydroepiandrosterone for 35 days) pre-treated with different doses of Diospyros lotus L. (500, 750, 1000, and 1500 mg/kg, p.o for 7 days) were challenged with Vicia faba beans extract and the protective effect of the fruit extract against hemolysis was evaluated as above. The results have shown that Diospyros lotus L. fruits extract has antioxidant activity that may protect against hemolytic damage induced by Vicia faba bean extract in both G6PD-deficient human and rat erythrocytes. The study gives a scientific basis for the efficacy of the fruit extract as used in Iran. The fact that this was shown in human erythrocytes in vitro is significant and provides a rationale for further testing in vivo in G6PD-deficient human populations.

  8. A rare cause of congenital adrenal hyperplasia : Antley-Bixler syndrome due to POR deficiency

    NARCIS (Netherlands)

    Herkert, J. C.; Blaauwwiekel, E. E.; Hoek, A.; Veenstra-Knol, H. E.; Kema, I. P.; Arlt, W.; Kerstens, M. N.

    Cytochrome P(450) oxidoreductase (POR) deficiency is a recently discovered new variant of congenital adrenal hyperplasia. Distinctive features of POR deficiency are the presence of disorders of sexual development in both sexes, glucocorticoid deficiency and skeletal malformations similar to those

  9. Cobalamin deficiency.

    Science.gov (United States)

    Herrmann, Wolfgang; Obeid, Rima

    2012-01-01

    Cobalamin (Cbl, vitamin B12) consists of a corrinoid structure with cobalt in the centre of the molecule. Neither humans nor animals are able to synthesize this vitamin. Foods of animal source are the only natural source of cobalamin in human diet. There are only two enzymatic reactions in mammalian cells that require cobalamin as cofactor. Methylcobolamin is a cofactor for methionine synthase. The enzyme methylmalonyl-CoA-mutase requires adenosylcobalamin as a cofactor. Therefore, serum concentrations of homocysteine (tHcy) and methylmalonic acid (MMA) will increase in cobalamin deficiency. The cobalamin absorption from diet is a complex process that involves different proteins: haptocorrin, intrinsic factor and transcobalamin (TC). Cobalamin that is bound to TC is called holotranscobalamin (holoTC) which is the metabolically active vitamin B12 fraction. HoloTC consists 6 and 20% of total cobalamin whereas 80% of total serum cobalamin is bound to another binding protein, haptocorrin. Cobalamin deficiency is common worldwide. Cobalamin malabsorption is common in elderly subjects which might explain low vitamin status. Subjects who ingest low amount of cobalamin like vegetarians develop vitamin deficiency. No single parameter can be used to diagnose cobalamin deficiency. Total serum cobalamin is neither sensitive nor it is specific for cobalamin deficiency. This might explain why many deficient subjects would be overlooked by utilizing total cobalamin as status marker. Concentration of holotranscobalamin (holoTC) in serum is an earlier marker that becomes decreased before total serum cobalamin. Concentrations of MMA and tHcy increase in blood of cobalamin deficient subjects. Despite limitations of these markers in patients with renal dysfunction, concentrations of MMA and tHcy are useful functional markers of cobalamin status. The combined use of holoTC and MMA assays may better indicate cobalamin status than either of them. Because Cbl deficiency is a risk factor

  10. Ectopic expression of a maize calreticulin mitigates calcium deficiency-like disorders in "sCAX1"-expressing tobacco and tomato

    Science.gov (United States)

    Deregulated expression of an Arabidopsis H(+)/Ca(2+) antiporter (sCAX1) in agricultural crops increases total calcium (Ca(2+)) but may result in yield losses due to Ca(2+) deficiency-like symptoms. Here we demonstrate that co-expression of a maize calreticulin (CRT, a Ca(2+) binding protein located ...

  11. Selected disorders of malabsorption.

    Science.gov (United States)

    Siddiqui, Zafreen; Osayande, Amimi S

    2011-09-01

    Malabsorption syndrome encompasses numerous clinical entities that result in chronic diarrhea, abdominal distention, and failure to thrive. These disorders may be congenital or acquired and include cystic fibrosis and Shwachman-Diamond syndrome; the rare congenital lactase deficiency; glucose-galactose malabsorption; sucrase-isomaltase deficiency; adult-type hypolactasia leading to acquired lactose intolerance. The pathology may be due to impairment in absorption or digestion of nutrients resulting in Nutritional deficiency, gastrointestinal symptoms, and extra gastrointestinal symptoms. Treatment is aimed at correcting the deficiencies and symptoms to improve quality of life. Common disorders of malabsorption celiac disease, pernicious anemia, and lactase deficiency are discussed in this article.

  12. VLCAD deficiency

    DEFF Research Database (Denmark)

    Boneh, A; Andresen, B S; Gregersen, N

    2006-01-01

    We diagnosed six newborn babies with very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) through newborn screening in three years in Victoria (prevalence rate: 1:31,500). We identified seven known and two new mutations in our patients (2/6 homozygotes; 4/6 compound heterozygotes). Blood...

  13. [Selective immunoglobulin A deficiency].

    Science.gov (United States)

    Binek, Alicja; Jarosz-Chobot, Przemysława

    2012-01-01

    Immunoglobulin class A is the main protein of the mucosal immune system. Selective immunoglobulin A deficiency (sIgAD) is the most common primary immunodeficiency in Caucasians. sIGAD is strongly associated with the certain major histocompatibility complex region. Most individuals with sIgAD are asymptomatic and identified coincidentally. However, some patients may present with recurrent infections, allergic disorders and autoimmune manifestations. Several autoimmune diseases, such as systemic lupus erythematosus, diabetes mellitus type 1, Graves disease and celiac disease, are associated with an increased prevalence of sIgAD. Screening for sIgAD in coeliac disease is essential. Patients need treatment of associated diseases. It is also known that IgA deficiency may progress into a common variable immunodeficiency (CVID). Pathogenesis and molecular mechanism involved in sIgAD should be elucidated in the future.

  14. Immune Disorder HSCT Protocol

    Science.gov (United States)

    2016-11-01

    Immune Deficiency Disorders; Severe Combined Immunodeficiency; Chronic Granulomatous Disease; X-linked Agammaglobulinemia; Wiskott-Aldrich Syndrome; Hyper-IgM; DiGeorge Syndrome; Chediak-Higashi Syndrome; Common Variable Immune Deficiency; Immune Dysregulatory Disorders; Hemophagocytic Lymphohistiocytosis; IPEX; Autoimmune Lymphoproliferative Syndrome; X-linked Lymphoproliferative Syndrome

  15. Molecular Genetics of Lactase Deficiencies

    OpenAIRE

    Kuokkanen, Mikko

    2006-01-01

    Congenital lactase deficiency (CLD) (MIM 223000) is a rare autosomal recessive gastrointestinal disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. The CLD locus was previously assigned by linkage and linkage disequilibrium analyses on 2q21 in 19 Finnish families. In this study, the molecular background of this disorder is reported. The CLD locus was refined in 32 CLD patients in 24 families by using microsatellite and single nucleot...

  16. Iodine uptake and distribution in horticultural and fruit tree species

    OpenAIRE

    Alessandra Caffagni; Nicola Pecchioni; Pierluigi Meriggi; Valerio Bucci; Emidio Sabatini; Nazareno Acciarri; Tommaso Ciriaci; Laura Pulcini; Nazzareno Felicioni; Massimiliano Beretta; Justyna Milc

    2012-01-01

    Iodine is an essential microelement for humans and iodine deficiency disorder (IDD) is one of the most widespread nutrient-deficiency diseases in the world. Iodine biofortification of plants provides an attractive opportunity to increase iodine intake in humans and to prevent and control IDD. This study was conducted to investigate the iodine uptake and accumulation in edible portion of two fruit trees: plum and nectarine, and two horticultural crops: tomato and potato. Two type of iodine tre...

  17. PREVALENCE AND SEVERITY OF IODINE DEFICIENCY ...

    African Journals Online (AJOL)

    GB

    2012-11-03

    Nov 3, 2012 ... BACKGROUND: Iodine deficiency disorder is a major problem worldwide, .... method involves the titration of a solution of salt ..... blocks the thyroid peroxidase enzyme (29, 34). .... Modern Nutrition in Health and Disease, Lea.

  18. Genetics Home Reference: familial lipoprotein lipase deficiency

    Science.gov (United States)

    ... Rare Disorders (NORD) RareConnect GeneReviews (1 link) Familial Lipoprotein Lipase Deficiency ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles on PubMed (1 link) PubMed OMIM (1 link) ...

  19. Vitamin K deficiency bleeding of the newborn

    Science.gov (United States)

    Vitamin K deficiency bleeding of the newborn (VKDB) is a bleeding disorder in babies. It most often ... A lack of vitamin K may cause severe bleeding in newborn babies. Vitamin K plays an important role in blood clotting. Babies often ...

  20. Genetics Home Reference: glutamate formiminotransferase deficiency

    Science.gov (United States)

    ... glutamate formiminotransferase deficiency is also characterized by megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number ... named? Additional Information & Resources MedlinePlus (4 ... Encyclopedia: Megaloblastic Anemia (image) Health Topic: Amino Acid Metabolism Disorders Health ...

  1. Genetics Home Reference: dihydropyrimidine dehydrogenase deficiency

    Science.gov (United States)

    ... of the skin on the palms and soles (hand-foot syndrome); shortness of breath; and hair loss may also ... dehydrogenase deficiency , with its early-onset neurological symptoms, is a rare disorder. Its prevalence is ...

  2. Helicobacterpy loriinfection and micronutrient deficiencies

    Institute of Scientific and Technical Information of China (English)

    Javed Yakoob; Wasim Jafri; Shahab Abid

    2003-01-01

    It is known that deficiencies of micronutrients due to infections increase morbidity and mortality. This phenomenon depicts itself conspicuously in developing countries.Deficiencies of iron, vitamins A, E, C, B12, etc are widely prevalent among populations living in the third world countries. Helicobacterpylori (Hpylori) infection has a high prevalence throughout the world. Deficiencies of several micronutrients due to Hpylori infection may be concomitantly present and vary from subtle sub-clinical states to severe clinical disorders. These essential trace elementsl micronutrients are involved in host defense mechanisms,maintaining epithelial cell integrity, glycoprotein synthesis,transport mechanisms, myocardial contractility, brain development, cholesterol and glucose metabolism. In this paper Hpyloriinfection in associaed with various micronutrients deficiencies is briefly reviewed.

  3. Iron Deficiency Anemia in Pregnancy.

    Science.gov (United States)

    Breymann, Christian

    2015-10-01

    Anemia is a common problem in obstetrics and perinatal care. Any hemoglobin below 10.5 g/dL can be regarded as true anemia regardless of gestational age. Reasons for anemia in pregnancy are mainly nutritional deficiencies, parasitic and bacterial diseases, and inborn red blood cell disorders such as thalassemias. The main cause of anemia in obstetrics is iron deficiency, which has a worldwide prevalence between estimated 20%-80% and consists of a primarily female population. Stages of iron deficiency are depletion of iron stores, iron-deficient erythropoiesis without anemia, and iron deficiency anemia, the most pronounced form of iron deficiency. Pregnancy anemia can be aggravated by various conditions such as uterine or placental bleedings, gastrointestinal bleedings, and peripartum blood loss. In addition to the general consequences of anemia, there are specific risks during pregnancy for the mother and the fetus such as intrauterine growth retardation, prematurity, feto-placental miss ratio, and higher risk for peripartum blood transfusion. Besides the importance of prophylaxis of iron deficiency, the main therapy options for the treatment of pregnancy anemia are oral iron and intravenous iron preparations.

  4. Surface-disordered and oxygen-deficient LiTi2-xMnx(PO4-y)3 nanoparticles for enhanced lithium-ion storage

    Science.gov (United States)

    Jiang, Xiaolei; Xu, Huayun; Mao, Hongzhi; Yang, Jian; Qian, Yitai

    2016-07-01

    Disordered surface of anode materials accompanied by oxygen vacancies, has been developed as an efficient strategy to promote their charge-transfer kinetics and then improve their electrochemical properties. It is rarely explored for cathode materials before. Here, LiTi2-xMnx(PO4-y)3 nanoparticles with a disordered surface and oxygen vacancies, are synthesized by a hydrothermal method following with an annealing in Ar/H2. Their disordered surface and heteroatom doping by reduced Mn/Ti species, have been supported by HRTEM images, XPS and EDS spectra. After 120 cycles at 0.2 C, these nanoparticles still deliver a capacity of 127 mAh g-1, much higher than the product without any doping, and that without a disordered surface. Even after 500 cycles, the capacity is still at 101 mAh g-1 for 5 C or at 71 mAh g-1 for 20 C. These results could be attributed to the reduced charge-transfer resistance caused by disordered surface, and the enhanced lithium-diffusion induced by doping.

  5. Phenylalanine hydroxylase deficiency.

    Science.gov (United States)

    Mitchell, John J; Trakadis, Yannis J; Scriver, Charles R

    2011-08-01

    Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the essential amino acid phenylalanine. It occurs in approximately 1:15,000 individuals. Deficiency of this enzyme produces a spectrum of disorders including classic phenylketonuria, mild phenylketonuria, and mild hyperphenylalaninemia. Classic phenylketonuria is caused by a complete or near-complete deficiency of phenylalanine hydroxylase activity and without dietary restriction of phenylalanine most children will develop profound and irreversible intellectual disability. Mild phenylketonuria and mild hyperphenylalaninemia are associated with lower risk of impaired cognitive development in the absence of treatment. Phenylalanine hydroxylase deficiency can be diagnosed by newborn screening based on detection of the presence of hyperphenylalaninemia using the Guthrie microbial inhibition assay or other assays on a blood spot obtained from a heel prick. Since the introduction of newborn screening, the major neurologic consequences of hyperphenylalaninemia have been largely eradicated. Affected individuals can lead normal lives. However, recent data suggest that homeostasis is not fully restored with current therapy. Treated individuals have a higher incidence of neuropsychological problems. The mainstay of treatment for hyperphenylalaninemia involves a low-protein diet and use of a phenylalanine-free medical formula. This treatment must commence as soon as possible after birth and should continue for life. Regular monitoring of plasma phenylalanine and tyrosine concentrations is necessary. Targets of plasma phenylalanine of 120-360 μmol/L (2-6 mg/dL) in the first decade of life are essential for optimal outcome. Phenylalanine targets in adolescence and adulthood are less clear. A significant proportion of patients with phenylketonuria may benefit from adjuvant therapy with 6R-tetrahydrobiopterin stereoisomer. Special consideration must be

  6. Growth hormone deficiency and hyperthermia during exercise

    DEFF Research Database (Denmark)

    Juul, A; Hjortskov, N; Jepsen, Leif

    1995-01-01

    Sweat secretion is often disturbed in patients with GH secretory disorders. Hyperhidrosis is a classic feature of acromegaly, and it has recently been shown that GH-deficient patients exhibit decreased sweating capacity after pilocarpine stimulation of the skin. Thus, patients with GH-deficiency ......Sweat secretion is often disturbed in patients with GH secretory disorders. Hyperhidrosis is a classic feature of acromegaly, and it has recently been shown that GH-deficient patients exhibit decreased sweating capacity after pilocarpine stimulation of the skin. Thus, patients with GH...

  7. Growth hormone deficiency and hyperthermia during exercise

    DEFF Research Database (Denmark)

    Juul, A; Hjortskov, N; Jepsen, Leif

    1995-01-01

    Sweat secretion is often disturbed in patients with GH secretory disorders. Hyperhidrosis is a classic feature of acromegaly, and it has recently been shown that GH-deficient patients exhibit decreased sweating capacity after pilocarpine stimulation of the skin. Thus, patients with GH-deficiency ......Sweat secretion is often disturbed in patients with GH secretory disorders. Hyperhidrosis is a classic feature of acromegaly, and it has recently been shown that GH-deficient patients exhibit decreased sweating capacity after pilocarpine stimulation of the skin. Thus, patients with GH...

  8. Iron deficiency

    DEFF Research Database (Denmark)

    Schou, Morten; Bosselmann, Helle; Gaborit, Freja

    2015-01-01

    BACKGROUND: Both iron deficiency (ID) and cardiovascular biomarkers are associated with a poor outcome in heart failure (HF). The relationship between different cardiovascular biomarkers and ID is unknown, and the true prevalence of ID in an outpatient HF clinic is probably overlooked. OBJECTIVES.......043). CONCLUSION: ID is frequent in an outpatient HF clinic. ID is not associated with cardiovascular biomarkers after adjustment for traditional confounders. Inflammation, but not neurohormonal activation is associated with ID in systolic HF. Further studies are needed to understand iron metabolism in elderly HF...

  9. Post-production losses in iodine concentration of salt hamper the control of iodine deficiency disorders: a case study in northern Ethiopia.

    Science.gov (United States)

    Shawel, Dawit; Hagos, Seifu; Lachat, Carl K; Kimanya, Martin E; Kolsteren, Patrick

    2010-06-01

    Iodine is essential for good function of the thyroid, and its deficiency is of public-health importance in Ethiopia. Iodization of salt is an effective and sustainable strategy to prevent and control iodine deficiency in large populations. The effectiveness of salt-iodization programmes depends on the conservation of iodine concentration in salt at various stages of the supply-chain. The overall objective of the study was to assess the loss of iodine in salt from production to consumption and to estimate the proportion of adults, especially pregnant women, at risk of dietary iodine insufficiency. A cross-sectional study was conducted during February-April 2007 in northern Ethiopia. Iodine concentrations of salt samples from producers (n=41), retailers (n=7), and consumers (n=32) were determined using iodiometric titration. A risk assessment was conducted for dietary iodine insufficiency among adults, including pregnant women, using a semi-probabilistic approach. The concentration of iodine in the sampled salts decreased by 57% from the production site to the consumers. The assessment of exposure showed that adults in 63% (n=20) of the households, including 90% (n=29) with pregnant women, were at risk of insufficient iodine intake. A monitoring and evaluation system needs to be established to ensure adequate supply of iodine along the distribution chain. Special attention is needed for the retailers and consumers. At these levels, dissemination of information regarding proper storage and handling of iodized salt is necessary to address the reported loss of iodine from salt.

  10. Mannose Binding Lectin Deficiency and Clinical Features

    Directory of Open Access Journals (Sweden)

    Ertugrul Erken

    2013-08-01

    Full Text Available Innate immunity consists of macrophages, neutrophils, natural killer cells, mucosal immunuglobulins and the comlement system. Mannose binding lectin (MBL takes part in innate immunity through opsonisation and complement activation. MBL deficiency is associated with some infections and autoimmune disorders. However some studies indicate that MBL deficiency alone is not essential for immunity but it may intensify the clinic picture of an immune deficiency that already exists. This article refers to clincal studies related to MBL and brings up the clinical importance of MBL deficiency. [Archives Medical Review Journal 2013; 22(4.000: 565-574

  11. 2008年河南省三门峡市碘缺乏病调查结果分析%Analysis of a survey results of iodine deficiency disorders in Sanmenxia city of Henan province in 2008

    Institute of Scientific and Technical Information of China (English)

    卫祎丽; 卫成; 刘楠; 张海波

    2011-01-01

    目的 了解河南省三门峡市碘缺乏病发展动态及防治效果,制订有针对性的碘缺乏病防治对策.方法 2008年,在三门峡市所属的灵宝市、陕县、湖滨区、义马市、渑池县、卢氏县6个县(市、区),每个县(市、区)按东、西、南、北、中5个方位抽取5个乡(镇、办事处),每个乡(镇、办事处)抽取1所小学,每所小学抽取8~10岁学生50名检查甲状腺,并采集其尿样和家庭食用盐样测定尿碘及盐碘.每所小学抽取30名5年级学生进行碘缺乏病知识健康教育问卷调查,在小学所在村按东、西、南、北、中不同方位采集饮用水5份进行水碘检测,并对10名家庭主妇进行碘缺乏病知识健康教育问卷调查.甲状腺检查采用触诊法;尿碘测定采用过硫酸铵消化-砷铈催化分光光度法(WS/T 107-2006);盐碘测定采用直接滴定法(GB/T 13025-1999);水碘测定采用砷铈催化分光光度法(GB/T 5750.5-2006).结果 6个县(市、区)共检查8~10岁儿童1500名,甲状腺肿大率为3.30%(50/1500),尿碘中位数为273.15μg/L;共检测盐样1500份,碘盐覆盖率为99.93%(1499/1500),碘盐合格率为98.00%(1469/1499),合格碘盐食用率为97.93%(1469/1500),非碘盐率为0.07%(1/1500),盐碘中位数为28.9 mg/kg;共采集水样150份,水碘中位数为2.76μg/L;学生碘缺乏病知识健康教育问卷及格率为97.11%(874/900),家庭主妇碘缺乏病知识健康教育问卷及格率为98.67%(296/300).结论 三门峡市碘缺乏病防治工作取得了明显的效果,各项监测指标均达到了国家消除碘缺乏病标准.%Objective To investigate the current situation of iodine deficiency disorders and the effect of control measures in Sanmenxia city of Henan province, and to formulate targeted control measures for iodine deficiency disorders. Methods In 2008, five villages(offices) were selected according to the east, west, south,north and center position in each county in 6 counties

  12. Infrequent, but Not Frequent, Reinforcers Produce More Variable Responding and Deficient Sustained Attention in Young Children with Attention-Deficit/Hyperactivity Disorder (ADHD)

    Science.gov (United States)

    Aase, Heidi; Sagvolden, Terje

    2006-01-01

    Background: The underlying behavioral/psychological processes of attention-deficit/hyperactivity disorder are unclear. Motivational factors, related to dopamine dysfunction, may play an important role in the development of the behavioral symptoms. Particularly, infrequent, but not frequent, reinforcers have been suggested to be associated with…

  13. Asupan yodium dan asupan goitrogenik hubungannya dengan status gangguan akibat kekurangan yodium (GAKY pada anak sekolah dasar di Kabupaten Dairi Provinsi Sumatera Utara

    Directory of Open Access Journals (Sweden)

    Urbanus Sitohang

    2008-11-01

    Full Text Available Background: Iodine deficiency disorder (IDD is a health problem which affects the quality of human resources. IDD is caused by lack of iodine substance. The substance is needed for numerous syntheses and metabolism in the body, particularly thyroid glands. IDD may also be caused by high consumption goitrogenic substance. Objective: The study was meant to identify relationship between iodine and thiocyanate intake and IDD, and to identify differences in iodine and thiocyanate intake based on endemic level. Method: This was an observational study with cross sectional design. Method used were palpation of goiter glands to measure endemic level, food recall, and food frequency questionnaire (FFQ to measure iodine and thiocyanate intake, ammonium persulfate digestion to measure urine iodine excretion. Data analysis used chi-square, Pearson correlation and anova. Results: The result of chi-square analysis showed that there was no significant relationship between iodine intake and IDD (p > 0.05, CI 95%: 0,34–1,18, but there was significant relationship between iodine intake and urine iodine excretion (p 0.05, CI 95%: 0.48–1.97. The result of Pearson correlation test showed that there was no significant relationship between iodine and thiocyanate FFQ and IDD (p > 0.05; there was no significant relationship (but there was a tendency between thiocyanate FFQ and IDD (p > 0.05. There were significant differences in iodine intake, thiocyanate intake,  iodine FFQ and thiocyanate FFQ based on endemic level (p > 0.05. Conclusion: There was relationship between iodine intake and IDD/non-IDD, but there was relationship between urine iodine excretion and IDD. Children with IDD had higher consumption of thiocyanate than those who did not have IDD. There were differences in all measurements based on endemic level.

  14. Normal sex differences in prenatal growth and abnormal prenatal growth retardation associated with 46,XY disorders of sex development are absent in newborns with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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    Chalmers Laura J

    2011-05-01

    Full Text Available Abstract Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common presentation of a disorder of sex development (DSD in genetic females. A report of prenatal growth retardation in cases of 46,XY DSD, coupled with observations of below-optimal final height in both males and females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, prompted us to investigate prenatal growth in the latter group. Additionally, because girls with congenital adrenal hyperplasia are exposed to increased levels of androgens in the absence of a male sex-chromosome complement, the presence or absence of typical sex differences in growth of newborns would support or refute a hormonal explanation for these differences. Methods In total, 105 newborns with congenital adrenal hyperplasia were identified in our database. Gestational age (weeks, birth weight (kg, birth length (cm and parental heights (cm were obtained. Mid-parental height was considered in the analyses. Results Mean birth weight percentile for congenital adrenal hyperplasia was 49.26%, indicating no evidence of a difference in birth weight from the expected standard population median of 50th percentile (P > 0.05. The expected sex difference in favor of heavier males was not seen (P > 0.05. Of the 105 subjects, 44 (27%; 34 females, 10 males had birth length and gestational age recorded in their medical chart. Mean birth length for this subgroup was 50.90 cm (63rd percentile, which differed from the expected standard population median of 50th percentile (P = 0.0082. The expected sex difference in favor of longer males was also not seen (P > 0.05. Conclusion The prenatal growth retardation patterns reported in cases of 46,XY disorders of sex development do not generalize to people with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Sex differences in body weight and length typically seen in young infants were not seen in the subjects who

  15. Pathogenesis of peroxisomal deficiency disorders (Zellweger syndrome may be mediated by misregulation of the GABAergic system via the diazepam binding inhibitor

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    Breitling Rainer

    2004-03-01

    Full Text Available Abstract Background Zellweger syndrome (ZS is a fatal inherited disease caused by peroxisome biogenesis deficiency. Patients are characterized by multiple disturbances of lipid metabolism, profound hypotonia and neonatal seizures, and distinct craniofacial malformations. Median live expectancy of ZS patients is less than one year. While the molecular basis of peroxisome biogenesis and metabolism is known in considerable detail, it is unclear how peroxisome deficiency leads to the most severe neurological symptoms. Recent analysis of ZS mouse models has all but invalidated previous hypotheses. Hypothesis We suggest that a regulatory rather than a metabolic defect is responsible for the drastic impairment of brain function in ZS patients. Testing the hypothesis Using microarray analysis we identify diazepam binding inhibitor/acyl-CoA binding protein (DBI as a candidate protein that might be involved in the pathogenic mechanism of ZS. DBI has a dual role as a neuropeptide antagonist of GABA(A receptor signaling in the brain and as a regulator of lipid metabolism. Repression of DBI in ZS patients could result in an overactivation of GABAergic signaling, thus eventually leading to the characteristic hypotonia and seizures. The most important argument for a misregulation of GABA(A in ZS is, however, provided by the striking similarity between ZS and "benzodiazepine embryofetopathy", a malformation syndrome observed after the abuse of GABA(A agonists during pregnancy. Implications of the hypothesis We present a tentative mechanistic model of the effect of DBI misregulation on neuronal function that could explain some of the aspects of the pathology of Zellweger syndrome.

  16. Vitamin Deficiency Anemia

    Science.gov (United States)

    ... are unique to specific vitamin deficiencies. Folate-deficiency anemia risk factors include: Undergoing hemodialysis for kidney failure. ... the metabolism of folate. Vitamin B-12 deficiency anemia risk factors include: Lack of intrinsic factor. Most ...

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... at highest risk for iron-deficiency anemia. Outlook Doctors usually can successfully treat iron-deficiency anemia. Treatment ... poor skin tone, dizziness, and depression. After her doctor diagnosed her with iron-deficiency anemia, Susan got ...

  18. DNA repair deficiency in neurodegeneration

    DEFF Research Database (Denmark)

    Jeppesen, Dennis Kjølhede; Bohr, Vilhelm A; Stevnsner, Tinna V.

    2011-01-01

    : homologous recombination and non-homologous end-joining. Ataxia telangiectasia and related disorders with defects in these pathways illustrate that such defects can lead to early childhood neurodegeneration. Aging is a risk factor for neurodegeneration and accumulation of oxidative mitochondrial DNA damage......Deficiency in repair of nuclear and mitochondrial DNA damage has been linked to several neurodegenerative disorders. Many recent experimental results indicate that the post-mitotic neurons are particularly prone to accumulation of unrepaired DNA lesions potentially leading to progressive...... neurodegeneration. Nucleotide excision repair is the cellular pathway responsible for removing helix-distorting DNA damage and deficiency in such repair is found in a number of diseases with neurodegenerative phenotypes, including Xeroderma Pigmentosum and Cockayne syndrome. The main pathway for repairing oxidative...

  19. Dopamine beta-hydroxylase deficiency

    Directory of Open Access Journals (Sweden)

    Senard Jean-Michel

    2006-03-01

    Full Text Available Abstract Dopamine beta-hydroxylase (DβH deficiency is a very rare form of primary autonomic failure characterized by a complete absence of noradrenaline and adrenaline in plasma together with increased dopamine plasma levels. The prevalence of DβH deficiency is unknown. Only a limited number of cases with this disease have been reported. DβH deficiency is mainly characterized by cardiovascular disorders and severe orthostatic hypotension. First symptoms often start during a complicated perinatal period with hypotension, muscle hypotonia, hypothermia and hypoglycemia. Children with DβH deficiency exhibit reduced ability to exercise because of blood pressure inadaptation with exertion and syncope. Symptoms usually worsen progressively during late adolescence and early adulthood with severe orthostatic hypotension, eyelid ptosis, nasal stuffiness and sexual disorders. Limitation in standing tolerance, limited ability to exercise and traumatic morbidity related to falls and syncope may represent later evolution. The syndrome is caused by heterogeneous molecular alterations of the DBH gene and is inherited in an autosomal recessive manner. Restoration of plasma noradrenaline to the normal range can be achieved by therapy with the synthetic precursor of noradrenaline, L-threo-dihydroxyphenylserine (DOPS. Oral administration of 100 to 500 mg DOPS, twice or three times daily, increases blood pressure and reverses the orthostatic intolerance.

  20. Analysis on survey results of iodine deficiency disorders in Xinyang City in 2011%2011年信阳市碘缺乏病病情调查结果分析

    Institute of Scientific and Technical Information of China (English)

    黄河秋; 张丽; 张继; 胡骏

    2013-01-01

    目的 通过了解和掌握信阳市碘缺乏病现状,综合评价预防控制措施落实效果.方法 采用人口容量比例概率抽样方法(PPS)抽取30个县(区)的8~ 10岁儿童、五年级学生、孕妇和哺乳期妇女进行调查和检测.结果 通过触诊法和B超法检查120名8~10岁儿童,甲状腺肿大率为6.7%;监测8~10岁儿童尿样36份,尿碘中位数213.6 μg/L;检测居民户食用盐样120份,盐碘中位数为28.8 mg/kg;居民每日摄人盐碘量高于卫生部推荐的150μg/(人·d)的适宜量;监测孕妇和哺乳期妇女尿样90份,尿碘中位数292.8μg/L;121名8~ 10岁儿童智商为103.7 ±20.1,智力低下比例占5.0%;共采集水样12份,水碘中位数分别为6.3 μg/L;学生碘缺乏病知识健康教育问卷及格率为94.5%,家庭主妇碘缺乏病知识健康教育问卷及格率为73.3%.结论 信阳市人群碘营养状况不断得到改善和提高,防治碘缺乏病效果显著,成绩稳固.%[Objective] To investigate and explore the current status of iodine deficiency disorders in Xinyang City, evaluate the implementation effect of prevention and control measures. [ Methods ] By using sampling method with probability proportional to size ( PPS) , children aged 8-10 years old, students in Grade 5, pregnant women and lactating women were collected to carry out the investigation and detection. [Results] 120 children aged 8-10 years old were examined by palpation and B-ultrasound, and the incidence rate of goiter was 6.7% . 36 urine samples of children aged 8-10 years old were tested, and the median of urinary iodine was 213.6 μg/L. A total of 120 salt samples of residents were determined, and the median of salt iodine was 28. 8 mg/kg. The daily intake of salt iodine was higher than the sufficiens quantitas recommended by Ministry of Health (150 μg/person · day). 90 urine samples of pregnant women and lactating women were monitored, and the median of urinary iodine was 292.8

  1. Treatment of carnitine deficiency.

    Science.gov (United States)

    Winter, S C

    2003-01-01

    Carnitine deficiency is a secondary complication of many inborn errors of metabolism. Pharmacological treatment with carnitine not only corrects the deficiency, it facilitates removal of accumulating toxic acyl intermediates and the generation of mitochondrial free coenzyme A (CoA). The United States Food and Drug Administration (US FDA) approved the use of carnitine for the treatment of inborn errors of metabolism in 1992. This approval was based on retrospective chart analysis of 90 patients, with 18 in the untreated cohort and 72 in the treated cohort. Efficacy was evaluated on the basis of clinical and biochemical findings. Compelling data included increased excretion of disease-specific acylcarnitine derivatives in a dose-response relationship, decreased levels of metabolites in the blood, and improved clinical status with decreased hospitalization frequency, improved growth and significantly lower mortality rates as compared to historical controls. Complications of carnitine treatment were few, with gastrointestinal disturbances and odour being the most frequent. No laboratory or clinical safety issues were identified. Intravenous carnitine preparations were also approved for treatment of secondary carnitine deficiency. Since only 25% of enteral carnitine is absorbed and gastrointestinal tolerance of high doses is poor, parenteral carnitine treatment is an appealing alternative therapeutic approach. In 7 patients treated long term with high-dose weekly to daily venous boluses of parenteral carnitine through a subcutaneous venous port, benefits included decreased frequency of decompensations, improved growth, improved muscle strength and decreased reliance on medical foods with liberalization of protein intake. Port infections were the most troubling complication. Theoretical concerns continue to be voiced that carnitine might result in fatal arrhythmias in patients with long-chain fat metabolism defects. No published clinical studies substantiate these

  2. 天王补心汤治疗心阴不足型广泛性焦虑的疗效观察%Observation of Tianwang Buxin Decoction in the Treatment of Heart Yin Deficiency Type of Generalized Anxiety Disorder

    Institute of Scientific and Technical Information of China (English)

    张晗; 毛丽军

    2014-01-01

    [目的]观察天王补心汤治疗心阴不足型广泛性焦虑症(generalized anxiety disorder,GAD)的临床疗效。[方法]选取西苑医院神经内科门诊及住院部心阴不足型GAD患者63例,随机分为中药组、西药组、中西药组,每组21例,分别给予天王补心汤、帕罗西汀、天王补心汤和帕罗西汀治疗,疗程均为8周。治疗前后采用汉密尔顿焦虑量表(HAMA)进行焦虑评分,对比临床疗效。[结果]3组的总有效率没有明显差异(P>0.05),但中西药组治疗前后HAMA下降程度明显,且治疗后评分明显低于其他两组(P<0.05),其中中药组和中西药组的副作用低于西药组。[结论]天王补心汤治疗心阴不足型GAD能起到与帕罗西汀相同的疗效,且中西药结合治疗临床效果更显著。%Objective] To observe the clinical effects of Tianwang Buxin decoction in the treatment of heart Yin deficiency type of Generalized Anxiety Disorder. [Methods] 63 patients with Generalized Anxiety Disorder(heart Yin deficiency type) were randomly divided into three groups: Tianwang Buxin decoction group, paroxetine group, Tianwang Buxin decoction combined paroxetine group, course of treatment for 8weeks.Contrast the scores of three groups by HAMA before and after treatment. [Results] The clinical efficacy was almost the same among the three groups without significant difference, but the decrease of HAMA scores of Tianwang Buxin decoction combined paroxetine group was obviously lower than Tianwang Buxin decoction group and paroxetine group(P<0.05), among which, TCM group and combination group of TCM and WM had less side effect than WM group. [Conclusion]The clinical efficacy of Tianwang Buxin decoction group is almost the same with the paroxetine group without significant difference. The clinical efficacy of Tianwang Buxin decoction combined paroxetine group is more significant.

  3. Clinical manifestation of myeloperoxidase deficiency.

    Science.gov (United States)

    Lanza, F

    1998-09-01

    Myeloperoxidase (MPO), an iron-containing heme protein localized in the azurophilic granules of neutrophil granulocytes and in the lysosomes of monocytes, is involved in the killing of several micro-organisms and foreign cells, including bacteria, fungi, viruses, red cells, and malignant and nonmalignant nucleated cells. Despite the primary role of the oxygen-dependent MPO system in the destruction of certain phagocytosed microbes, subjects with total or partial MPO deficiency generally do not have an increased frequency of infections, probably because other MPO-independent mechanism(s) for microbicidal activity compensate for the lack of MPO. Infectious diseases, especially with species of Candida, have been observed predominantly in MPO-deficient patients who also have diabetes mellitus, but the frequency of such cases is very low, less than 5% of reported MPO-deficient subjects. Evidence from a number of investigators indicates that individuals with total MPO deficiency show a high incidence of malignant tumors. Since MPO-deficient PMNs exhibit in vitro a depressed lytic action against malignant human cells, it can be speculated that the neutrophil MPO system plays a central role in the tumor surveillance of the host. However, any definitive conclusion on the association between MPO deficiency and the occurrence of cancers needs to be confirmed in further clinical studies. Clinical manifestations of this disorder depend on the nature of the defect; an acquired abnormality associated with other hematological or nonhematological diseases has been occasionally described, but the primary deficiency is the form more commonly reported. Another area of interest pertinent to MPO expression is related to the use of anti-MPO monoclonal antibodies for the lineage assignment of acute leukemic cells, the definition of FAB MO acute myeloid leukemia, the identification of biphenotypic acute leukemias, and their distinction from acute leukemia with minimal phenotypic deviation

  4. Mental deficiency

    Institute of Scientific and Technical Information of China (English)

    1993-01-01

    930201 A study of the comparison betweenhysteric-like episode cansed by Chinese Qigong(deep meditation)and hysteria with psychoso-cial stress.SHAN Huaihai(单怀海),et al.Shanghai Ment Health Center,200030.Chin JNerv & Ment Dis 1992;18(3):156—158.Twenty-two cases of hysteric-like episodecaused by Chinese Qi Gong were analyzed andcompared with the control group(hysteia withpsychosocial stress).The results showed that inthe study group,BPRS was 47.909±6.934(mean±SD),specific delusional idea 72.6%and specific behavioral disorders 73.3%,andthe averaged age at onset was higher than thatin the control group.There were some giffer-ences on hysteric character,family history,

  5. Clinical features and sera anti-aquaporin 4 antibody positivity in patients with demyelinating disorders of the central nervous system from Tianjin, China.

    Science.gov (United States)

    Yang, Chun-Sheng; Zhang, Da-Qi; Wang, Jing-Hua; Jin, Wei-Na; Li, Min-Shu; Liu, Jie; Zhang, Cun-Jin; Li, Ting; Shi, Fu-Dong; Yang, Li

    2014-01-01

    To investigate the clinical characteristics and sera anti-aquaporin 4 (AQP4) antibody positivity in patients with inflammatory demyelinating disorders (IDDs) of the central nervous system (CNS) in Tianjin, China. We retrospectively evaluated 234 patients with IDDs including neuromyelitis optica (NMO), recurrent optic neuritis (rON), longitudinally extensive transverse myelitis (LETM), clinically isolated syndrome (CIS), and multiple sclerosis (MS) groups. Sera from 217 patients were determined for AQP4-Ab. The clinical characteristics and sera anti-AQP4 positivity were compared. The IDDS comprised 63 MS, 51 NMO, 56 LETM, 10 rON, and 54 CIS. Compared with MS, NMO had a higher frequency of occurrence in women, intractable hiccup and nausea (IHN), medullospinal lesion, longitudinally extensive spinal cord lesions (LESCL) and bilateral ON, disease onset at a later age, and worsening residual disability. AQP4-Ab-positive rates were 84.1% and 69% in NMO and NMO spectrum disorders (NMOSD), respectively, whereas it was undetectable in all of the MS sera samples. We comprehensively contrast the distinct clinical features of MS, NMO, and NMOSD in our center. A sensitive AQP4-Ab assay is necessary for the early diagnosis of NMOSD in our patients. Neither medullospinal lesion nor IHN is unique in NMO. © 2013 John Wiley & Sons Ltd.

  6. Molecular diagnosis of coenzyme Q10 deficiency.

    Science.gov (United States)

    Yubero, Delia; Montero, Raquel; Armstrong, Judith; Espinós, Carmen; Palau, Francesc; Santos-Ocaña, Carlos; Salviati, Leonardo; Navas, Placido; Artuch, Rafael

    2015-01-01

    Coenzyme Q10 (CoQ) deficiency syndromes comprise a growing number of neurological and extraneurological disorders. Primary-genetic but also secondary CoQ deficiencies have been reported. The biochemical determination of CoQ is a good tool for the rapid identification of CoQ deficiencies but does not allow the selection of candidate genes for molecular diagnosis. Moreover, the metabolic pathway for CoQ synthesis is an intricate and not well-understood process, where a large number of genes are implicated. Thus, only next-generation sequencing techniques (either genetic panels of whole-exome and -genome sequencing) are at present appropriate for a rapid and realistic molecular diagnosis of these syndromes. The potential treatability of CoQ deficiency strongly supports the necessity of a rapid molecular characterization of patients, since primary CoQ deficiencies may respond well to CoQ treatment.

  7. Trabalhador com deficiência física: fragilidades e agravos autorreferidos Trabajador con discapacidad física: debilidades y daños auto percibidos Worker with physical disability: weaknesses and disorders self referred

    Directory of Open Access Journals (Sweden)

    Débora Ribas Leal

    2013-02-01

    Full Text Available Este estudo teve como objetivo investigar fragilidades e agravos vivenciados por trabalhadores com deficiência física no seu ambiente de trabalho. Trata-se de um estudo de caso, de caráter descritivo, de abordagem qualitativa. Os dados foram coletados junto a oito trabalhadores com deficiência física e analisados mediante análise temática. A maioria dos sujeitos pesquisados refere ter encontrado dificuldades na busca do emprego e mencionam o preconceito e a acessibilidade como obstáculos. A maioria não identifica riscos para adoecimento no ambiente de trabalho. As pessoas com deficiência física devem ter conhecimentos acerca de seus direitos e sobre os riscos ocupacionais a que estão expostos, a fim de facilitar meios para a consolidação de uma sociedade cada vez mais inclusiva e promotora de ambiências saudáveis. Os profissionais de saúde devem fazer uma profunda reflexão a fim de que sejam colaboradores para a inclusão saudável de pessoas com deficiência em seus ambientes de trabalho.Este estudio tuvo como objetivo investigar las debilidades y trastornos sufridos por los trabajadores con discapacidad física en su entorno de trabajo. Se trata de un estudio de caso descriptivo, con enfoque cualitativo. Los datos fueron recolectados a partir de ocho trabajadores con discapacidad física y analizados mediante el análisis temático. La mayoría de las personas encuestadas declararon haber tenido dificultades para encontrar empleo y mencionaran los prejuicios y obstáculos a la accesibilidad. La mayoría no identificaran riesgos de enfermedad en el lugar de trabajo. Las personas con discapacidad física deben tener conocimiento sobre sus derechos y sobre los riesgos laborales a que están expuestos, con el fin de facilitar los medios para la consolidación de una sociedad cada vez más inclusiva y un ambiente de trabajo saludable. Profesionales de la salud deben refletar sobre el tema, a fin de que contribuyan a la inclusi

  8. Molecular genetics of human lactase deficiencies.

    Science.gov (United States)

    Järvelä, Irma; Torniainen, Suvi; Kolho, Kaija-Leena

    2009-01-01

    Lactase non-persistence (adult-type hypolactasia) is present in more than half of the human population and is caused by the down-regulation of lactase enzyme activity during childhood. Congenital lactase deficiency (CLD) is a rare severe gastrointestinal disorder of new-borns enriched in the Finnish population. Both lactase deficiencies are autosomal recessive traits and characterized by diminished expression of lactase activity in the intestine. Genetic variants underlying both forms have been identified. Here we review the current understanding of the molecular defects of human lactase deficiencies and their phenotype-genotype correlation, the implications on clinical practice, and the understanding of their function and role in human evolution.

  9. Nutrition and hair: deficiencies and supplements.

    Science.gov (United States)

    Finner, Andreas M

    2013-01-01

    Hair follicle cells have a high turnover. A caloric deprivation or deficiency of several components, such as proteins, minerals, essential fatty acids, and vitamins, caused by inborn errors or reduced uptake, can lead to structural abnormalities, pigmentation changes, or hair loss, although exact data are often lacking. The diagnosis is established through a careful history, clinical examination of hair loss activity, and hair quality and confirmed through targeted laboratory tests. Examples of genetic hair disorders caused by reduced nutritional components are zinc deficiency in acrodermatitis enteropathica and copper deficiency in Menkes kinky hair syndrome.

  10. Severe Vitamin D Deficiency Causing Kyphoscoliosis.

    Science.gov (United States)

    Singhai, Abhishek; Banzal, Subodh

    2013-01-01

    Vitamin D deficiency is common among Indian population. Women are especially at risk for severe vitamin D deficiency. The risk is higher for those who are multiparous and postmenopausal. Poor exposure to sunlight, higher latitude, winter season, inadequate diet, older age, obesity and malabsorption are also important risk factors. Symptoms of hypovitaminosis D, including diffuse or migratory pain affecting several sites (especially the shoulder, pelvis, ribcage and lower back) have also been misdiagnosed as musculoskeletal disorders, including fibromyalgia, polymyalgia rheumatica and ankylosing spondylitis. Here, we report two cases presented with kyphoscoliosis, diagnosed to have severe vitamin D deficiency.

  11. Carnitine Deficiency and Pregnancy

    OpenAIRE

    Anouk de Bruyn; Yves Jacquemyn; Kristof Kinget; François Eyskens

    2015-01-01

    We present two cases of carnitine deficiency in pregnancy. In our first case, systematic screening revealed L-carnitine deficiency in the first born of an asymptomatic mother. In the course of her second pregnancy, maternal carnitine levels showed a deficiency as well. In a second case, a mother known with carnitine deficiency under supplementation was followed throughout her pregnancy. Both pregnancies had an uneventful outcome. Because carnitine deficiency can have serious complications, su...

  12. Evaluation of a health education program on iodine deficiency disorders in Jiangsu Province%江苏省碘缺乏病健康教育效果评价

    Institute of Scientific and Technical Information of China (English)

    吴俊; 王培桦; 尚莉

    2013-01-01

    目的 评价健康教育干预在碘缺乏病防治中的作用.方法 于2011年1-6月,在江苏省苏州太仓市、南京溧水县、连云港灌云县、盐城响水县、淮安盱眙县、常州溧阳市、南通如东市、扬州高邮市、泰州靖江市共9个县(市)的目标人群开展碘缺乏病健康教育.在健康教育前(基线调查)和教育后(效果评价调查),分别在每个项目县(市)各抽取3个项目乡,每个项目乡各抽取1所中心小学校,每个小学校各抽取1个班级的5年级学生30名,在每所学校所在地各抽取15名育龄妇女.在健康教育前和教育后,对学生和育龄妇女进行碘缺乏病防治知识知晓率问卷调查,对调查结果进行分析,了解健康教育效果.健康教育内容包括通过电视在每个项目县播放有关地方病防治知识的科普片和公益广告,通过广播和报刊宣传报道防治地方病的知识;在乡政府、村委会所在地张贴或悬挂相关地方病防治知识的标语幅;在乡卫生院开设专题宣传栏;在村卫生所(室)张贴宣传画;对育龄妇女开展地方病防治知识培训.在小学校对4~6年级学生进行上好1节碘缺乏防治知识健康教育课,并把所学到的相关知识传递给家庭成员.结果 健康教育前和教育后共调查了2678人.其中5年级学生的碘缺乏病防治知识平均知晓率(正确答题率)由健康教育前的69.04%(1920/2781)上升为健康教育后的94.08%(2622/2787,x2=580.63,P<0.05);育龄妇女的碘缺乏病防治知识平均知晓率(正确答题率)由健康教育前的74.76%(924/1236)上升为健康教育后的92.60%(1139/1230,x2=143.59,P< 0.05).结论 健康教育干预有效促进了学生和育龄妇女对碘缺乏病知识的了解和掌握,在防治碘缺乏病中作用显著.%Objective To evaluate the effects of a health education project on prevention and control of iodine deficiency disorders.Methods From January to June 2011,an

  13. Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

    NARCIS (Netherlands)

    Krone, Nils; Reisch, Nicole; Idkowiak, Jan; Dhir, Vivek; Ivison, Hannah E.; Hughes, Beverly A.; Rose, Ian T.; O'Neil, Donna M.; Vijzelaar, Raymon; Smith, Matthew J.; MacDonald, Fiona; Cole, Trevor R.; Adolphs, Nicolai; Barton, John S.; Blair, Edward M.; Braddock, Stephen R.; Collins, Felicity; Cragun, Deborah L.; Dattani, Mehul T.; Day, Ruth; Dougan, Shelley; Feist, Miriam; Gottschalk, Michael E.; Gregory, John W.; Haim, Michaela; Harrison, Rachel; Olney, Ann Haskins; Hauffa, Berthold P.; Hindmarsh, Peter C.; Hopkin, Robert J.; Jira, Petr E.; Kempers, Marlies; Kerstens, Michiel N.; Khalifa, Mohamed M.; Koehler, Birgit; Maiter, Dominique; Nielsen, Shelly; O'Riordan, Stephen M.; Roth, Christian L.; Shane, Kate P.; Silink, Martin; Stikkelbroeck, Nike M. M. L.; Sweeney, Elizabeth; Szarras-Czapnik, Maria; Waterson, John R.; Williamson, Lori; Hartmann, Michaela F.; Taylor, Norman F.; Wudy, Stefan A.; Malunowicz, Ewa M.; Shackleton, Cedric H. L.; Arlt, Wiebke; Smith, M.J.

    2012-01-01

    Context: P450 oxidoreductase deficiency (PORD) is a unique congenital adrenal hyperplasia variant that manifests with glucocorticoid deficiency, disordered sex development (DSD), and skeletal malformations. No comprehensive data on genotype-phenotype correlations in Caucasian patients are available.

  14. Validation of Evidence-Based Fall Prevention Programs for Adults with Intellectual and/or Developmental Disorders (FallPAIDD: A Modified Otago Exercise Program

    Directory of Open Access Journals (Sweden)

    Mindy Renfro

    2016-12-01

    Full Text Available INTRODUCTION: Evidence-based fall prevention (EBFP programs significantly decrease fall risk, falls, and fall-related injuries in community-dwelling older adults. To date, EBFP programs are only validated for use among people with normal cognition and, therefore, are not evidence-based for adults with intellectual and/or developmental disorders (IDD such as Alzheimer’s disease and related dementias (ADRD, cerebral vascular accident (CVA, or traumatic brain injury (TBI. BACKGROUND: Adults with IDD experience not only a higher rate of falls than their community-dwelling, cognitively intact peers, but also higher rates and earlier onset of chronic diseases, also known to increase fall risk. Adults with IDD experience many barriers to healthcare and health promotion programs. As the lifespan for people with IDD continues to increase, issues of aging (including falls with associated injury are on the rise and require effective and efficient prevention. METHODS: A modified group-based version of the Otago Exercise Program (OEP was developed and implemented at a worksite employing adults with IDD in Montana. Participants were tested pre and post-intervention using the Center for Disease Control and Prevention’s (CDC STopping Elderly Accidents Deaths and Injuries (STEADI tool kit. Participants participated in progressive once weekly, one-hour group exercise classes and home programs over a 7-week period. Discharge planning with consumers and caregivers included home exercise, walking, and an optional home assessment. RESULTS: Despite the limited number of participants (n=15 and short length of participation, improvements were observed in the 30-Second Chair Stand Test, 4-Stage Balance Test, and 2-Minute Walk Test. Additionally, three individuals experienced an improvement in ambulation independence. Participants reported no falls during the study period. DISCUSSION: Promising results of this preliminary project underline the need for further study

  15. 韶关市消除碘缺乏病目标考核评估分析%Assessment on the objective of IDD elimination in Shaoguan

    Institute of Scientific and Technical Information of China (English)

    倪秀锋; 卢志坚; 邓俊兴; 苏少芳; 卢学会

    2012-01-01

    Objective Evaluate the effectiveness of elimination on iodine deficiency. Methods The assessment was conducted based on the . The urine iodine, rate of thyroid enlargement and utilization ration of qualified iodized salt were spot-checked for the 8-10 year old students. Data assessment was based on the , including consulting organization and leadership, iodized salt management, survey and prevention, and health education. Results The median of urine iodine of 8-10 year old students was 204.74 μg/L, the proportion of less than 50 μg/L was 4.70%, the revised thyroid enlargement rate was 3.4%, the iodine cover rate was 99.83%, the utilization ration of qualified iodized salt was 98.87%. Assessment on the condition of health education was done through questionnaire among 1 604 students of Grade 5, and the understanding rate was 92.16%. The overall score of management and technology index was 95.43. Conclusion The effectiveness of prevention and cure on iodine deficiency was consolidated in Shaoguan, and it had achieved the goal of elimination on iodine deficiency as scheduled.%目的 评价韶关市消除碘缺乏病目标防制措施效果.方法 依据《实现消除碘缺乏病目标县级考核评估方案》开展评估工作.现场考核抽查8~10岁学生尿碘中位数、甲状腺肿大率、居民合格碘盐食用率.资料考核根据《综合指标考评计分表》查阅组织领导、碘盐管理、监测防治和健康教育按百分制计算.结果 各县(市、区)8~10岁学生尿碘含量中位数为204.74 μg/L,<50 μg/L的比例为4.70%,校正的甲肿率为3.4%,碘盐覆盖率为99.83%,居民合格碘盐食用率为98.87%.1 604名5年级学生的健康教育知识知晓率为92.16%.管理指标与技术指标综合得分95.43分.结论 韶关市碘缺乏病防治效果巩固,如期实现了消除碘缺乏病目标.

  16. 2013年江苏省连云港市碘缺乏病病情调查报告%Report of a survey results of iodine deficiency disorders in Lianyungang, Jiangsu Province in 2013

    Institute of Scientific and Technical Information of China (English)

    毛艳敏; 周晓梅; 王金玲; 赵忠顺; 陈志梁

    2015-01-01

    Objective To investigate the current status of iodine deficiency disorders in Lianyungang,Jiangsu Province,and to evaluate the effectiveness of prevention and control measures.Methods Using population probability proportional to size sampling method (PPS),in Lianyungang City,30 townships (towns) were selected,one primary school was selected in each township (town),fifty 8-10 years old students (half male and half female,uniformly distributed in age groups) were selected in each school,and goiter was examined; one random urine sample was collected to survey the urinary iodine content; household salt sample was collected to survey the salt iodine content.At the same time,30 students from Grade 5 in each school were selected,and health education questionnaire survey was conducted.In the village where the primary school located,5 housewives were selected and a questionnaire survey was conducted; salt samples were collected and salt iodine level was tested by semi quantitative detection on site; 2-5 drinking water samples were collected and the water iodine level was determined in the village.One random urine sample from twenty pregnant women and 10 lactating women in the township (town)was selected and urinary iodine was determined.The goiter was examined by palpation; urinary iodine was detected by arsenic cerium catalytic spectrophotometry (WS/T 107-2006); salt iodine was detected by direct titration,Sichuan salt and other fortified edible salt were tested by arbitration law (GB/T 13025.7-2012); water iodine was detected by the method suitable for iodine deficiency and high iodine areas (recommended method of reference laboratory of national iodine deficiency disorders).Results One thousand and five hundred children aged 8-10 years old were examined by palpation,18 children had goiter,and the goiter rate was 1.20% (18/1 500).One thousand and five hundred urine samples of children aged 8-10 years old were tested,and the median of urinary iodine was 239.62

  17. 打孔塞入法治疗果树缺铁黄叶病%Therapy Study of Chlorotic Disorder of Fruit Trees Caused by Iron Deficiency through Punched Hole

    Institute of Scientific and Technical Information of China (English)

    王满平; 孙占育; 孙志强; 田芳银; 王小军

    2012-01-01

    Researches selected out eight kinds of iron-contained compounds and insert them to the holes dug on the trunks, in order to cure the fruit chlorosis reduced by iron deficiency economically, safely as well as efficiently,and overcome the poor effects of fertilizing iron on soil or tree leaves and the defects of injecting green-recovering potion from tree trunks, such as restriction by season, poor safety condition and complex operation. These compounds can be divided into four types including: (1) the soluble inorganic ferrous salt FeSO4 ·7H2O and FeCl2 ·4H2O; (2) the soluble inorganic ferric salt Fe2(SO4)3 and FeCl3 ·6H2O; (3) the hard dissolved iron compounds FeC2O4 and Fe2O3; (4) Iron complex ammonium ferrous sulphate Fe(NH4 )2 (SO4 )2 ·6H2O and ferrous citrate. The results showed that several iron-contained compounds can cure chlorotic disorder of fruit trees caused by iron-deficiency within 6~7 days,even the white leaves totally recover to green within 20 days. Fe(NH4 )2 (SO4)2 ·6H2O is the most economic, efficient and safest compound; FeSO4 ·7H2O is the second best. The research also paved a new way for treatment of other trace elements deficiency diseases.%为了经济、安全、高效地治疗果树因缺铁而引发的黄叶病,克服目前土壤和叶面施铁疗效差,树干注射复绿剂受季节限制、安全性差、操作复杂的缺陷,选用4类8种含Fe化合物(易溶性二价无机铁盐FeSO4·7H2O和FeCl2·4H2O,易溶性三价无机铁盐Fe2 (SO4)3和FeCl3·6H2O,难溶性Fe2O3和FeC2O4,铁络合物Fe( NH4)2(SO4)2·6H2O和FeC6O2H6),在树干上打孔后将其塞入.结果表明,多种含铁化合物都能使果树缺铁黄化病在第6至第7天开始复绿,20 d后使已经白化的叶片也能彻底恢复绿色,其中Fe(NH4)2(SO4)2·6H2O最为经济、安全、高效,FeSO4·7H2O次之.

  18. 哌甲酯治疗门诊注意缺陷多动障碍患儿的依从性研究%Investigation of the compliance of attention deficient hyperactivity disorder children on methylphenidate therapy

    Institute of Scientific and Technical Information of China (English)

    朱大倩; 高鸿云; 朱雍雍

    2011-01-01

    [目的]了解门诊注意缺陷多动障碍(attention deficient hyperactivity disorder,ADHD),患儿对哌甲酯治疗的依从性,及其可能的影响因素. [方法]对1999年1月-2007年1月间所有首次诊断为ADHD,并给予哌甲酯处方的患儿,根据自编的进行电话随访. [结果]共有病例325例,204例获得有效随访,84.31%(172例)的患儿接受哌甲酯治疗.用药达6个月以上患儿占用药人群的71.52%.依从性好者占总人群的28.4%.出现药物不良反应者占用药人群的29.7%,无严重不良反应事件发生.主要拒药或停药原因为:怕药物副作用.药物剂型和是否合并家长教育或小组治疗对依从性有影响作用. [结论]ADHD患儿家庭对药物治疗的依从性不高,长效制剂和父母小组干预有助于提高药物治疗依从性.%[Objective]To study the compliance of attention deficient hyperactivity disorder(ADHD) patients on methylphenidate(MPH) and its possible influencing factors.[Methods]All patients diagnosed as ADHD in psychological counseling clinic of Children's Hospital of Fudan University during Jan 1999 to Jan 2007 , and should be prescribed MPH at first time were enrolled.A self-designed questionnaire was administered by telephone.[Results]There were 325 ADHD patients in 8 years.204 patients were successfully followed, 84.31% patients accepted MPH therapy, 71.52 % in the MPH therapy group adhered to the medicine for more than 6 months.Only 28.4% of the whole studied population had good compliance.The main cause for families to refuse or stop MPH therapy was afraid of the side effects of medicine.The form of medicine and whether accompanied with parents education/group therapy had relation with MPH compliance.[Conclusion]The compliance of medicine therapy in ADHD families is low, and long-acting form and parents or group intervention will like to improve compliance.

  19. An Open-label Phase 2 Study of UX007 (Triheptanoin) in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)

    Science.gov (United States)

    2016-11-23

    Long-chain Fatty Acid Oxidation Disorders (LC-FAOD); Carnitine Palmitoyltransferase (CPT II) Deficiency; Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency; Longchain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency; Trifunctional Protein (TFP) Deficiency

  20. Familial lipoprotein lipase deficiency

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000408.htm Familial lipoprotein lipase deficiency To use the sharing features on this page, please enable JavaScript. Familial lipoprotein lipase deficiency is a group of rare genetic ...

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... This Content: NEXT >> Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video— ... treatment. For more information about living with and managing iron-deficiency anemia, go to the Health Topics ...

  2. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... or an inability to absorb enough iron from food. Overview Iron-deficiency anemia is a common type ... of the condition. Treatments may include dietary changes, medicines, and surgery. Severe iron-deficiency anemia may require ...

  3. Folate-deficiency anemia

    Science.gov (United States)

    ... medlineplus.gov/ency/article/000551.htm Folate-deficiency anemia To use the sharing features on this page, please enable JavaScript. Folate-deficiency anemia is a decrease in red blood cells (anemia) ...

  4. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... severity of the condition. Treatments may include dietary changes, medicines, and surgery. Severe iron-deficiency anemia may require treatment in a hospital, blood ... With and Managing Iron-Deficiency Anemia 05/18/2011 This video— ...

  5. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... or an inability to absorb enough iron from food. Overview Iron-deficiency anemia is a common type ... condition. Treatments may include dietary changes, medicines, and surgery. Severe iron-deficiency anemia may require treatment in ...

  6. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Deficiency Anemia What Is... CAUSES WHO IS AT RISK SIGNS & SYMPTOMS DIAGNOSIS TREATMENTS PREVENTION LIVING WITH CLINICAL ... and women are the two groups at highest risk for iron-deficiency anemia. Outlook Doctors usually can ...

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Deficiency Anemia Explore Iron-Deficiency Anemia What Is... CAUSES WHO IS AT RISK SIGNS & SYMPTOMS DIAGNOSIS TREATMENTS ... Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA NO FEAR ACT OIG CONTACT US National Institutes of Health ...

  8. Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients

    OpenAIRE

    Alangari, Abdullah; Al-Harbi, Abdullah; Al-Ghonaium, Abdulaziz; Santisteban, Ines; Hershfield, Michael

    2009-01-01

    Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive metabolic disorder that results in combined immunodeficiency, neurologic dysfunction and autoimmunity. PNP deficiency has never been reported from Saudi Arabia or in patients with an Arabic ethnic background. We report on two Saudi girls with PNP deficiency. Both showed severe lymphopenia and neurological involvement. Sequencing of the PNP gene of one girl revealed a novel missense mutation Pro146>Leu in exon 4 due...

  9. Skin morphological changes in growth hormone deficiency and acromegaly

    DEFF Research Database (Denmark)

    Lange, Merete Wolder; Thulesen, J; Feldt-Rasmussen, U

    2001-01-01

    To evaluate the histomorphology of skin and its appendages, especially eccrine sweat glands, in patients with GH disorders, because reduced sweating ability in patients with growth hormone deficiency (GHD) is associated with increased risk of hyperthermia under stressed conditions....

  10. Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency

    DEFF Research Database (Denmark)

    Sahebekhtiari, Navid; Thomsen, Michelle M.; Sloth, Jens Jørgen

    2016-01-01

    Deficiency of mitochondrial sulfur dioxygenase (ETHE1) causes the severe metabolic disorder ethylmalonic encephalopathy, which is characterized by early-onset encephalopathy and defective cytochrome C oxidase because of hydrogen sulfide accumulation. Although the severe systemic consequences...

  11. Mitochondrial trifunctional protein deficiency in human cultured fibroblasts

    DEFF Research Database (Denmark)

    Djouadi, Fatima; Habarou, Florence; Le Bachelier, Carole

    2016-01-01

    Mitochondrial trifunctional protein (MTP) deficiency caused by HADHA or HADHB gene mutations exhibits substantial molecular, biochemical, and clinical heterogeneity and ranks among the more severe fatty acid oxidation (FAO) disorders, without pharmacological treatment. Since bezafibrate has been...

  12. Iodine Status and Prevalence of Goitre in School Going Children in Rural Area

    OpenAIRE

    P.V., Sridhar; C.S., Kamala

    2014-01-01

    Introduction: Iodine deficiency disorder (IDD) is one of the preventable major public health problems in India. It has been always thought that goitre was only found in the Himalayan goitre belt. Recent surveys outside the conventional goitre belt have identified foci of iodine deficiency in other parts of India.

  13. Iron-Deficiency Anemia

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Is Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, ... Content: NEXT >> Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented by ...

  14. Iron-Deficiency Anemia

    Science.gov (United States)

    ... the NHLBI on Twitter. What Is Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, easily ... Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented by the ...

  15. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... the NHLBI on Twitter. What Is Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, easily ... Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented by the ...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... the NHLBI on Twitter. What Is Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, easily ... Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented by the ...

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Deficiency Anemia? Español Iron-deficiency anemia is a common, easily treated condition that occurs if you don' ... from food. Overview Iron-deficiency anemia is a common type of anemia . The term "anemia" usually refers ...

  18. Sneddon syndrome associated with Protein S deficiency.

    Science.gov (United States)

    Sayin, Refah; Bilgili, Serap Gunes; Karadag, Ayse Serap; Tombul, Temel

    2012-01-01

    Sneddon syndrome (SS) is rare, arterio-occlusive disorder characterized by generalized livedo racemosa of the skin and various central nervous symptoms due to occlusion of medium-sized arteries of unknown. Seizure, cognitive impairment, hypertension, and history of repetitive miscarriages are the other symptoms seen in this disease. Livedo racemosa involves persisting irreversible skin lesions red or blue in color with irregular margins. Usually, SS occurs in women of childbearing age. Protein S deficiency is an inherited or acquired disorder associated with an increased risk of thrombosis. We present a 33-year-old woman with SS with diffuse livedo racemosa, recurrent cerebrovascular diseases, migraine-type headache, sinus vein thrombosis, and protein S deficiency. Protein S deficiency and with Sneddon syndrome rarely encountered in the literature.

  19. Sneddon syndrome associated with Protein S deficiency

    Directory of Open Access Journals (Sweden)

    Refah Sayin

    2012-01-01

    Full Text Available Sneddon syndrome (SS is rare, arterio-occlusive disorder characterized by generalized livedo racemosa of the skin and various central nervous symptoms due to occlusion of medium-sized arteries of unknown. Seizure, cognitive impairment, hypertension, and history of repetitive miscarriages are the other symptoms seen in this disease. Livedo racemosa involves persisting irreversible skin lesions red or blue in color with irregular margins. Usually, SS occurs in women of childbearing age. Protein S deficiency is an inherited or acquired disorder associated with an increased risk of thrombosis. We present a 33-year-old woman with SS with diffuse livedo racemosa, recurrent cerebrovascular diseases, migraine-type headache, sinus vein thrombosis, and protein S deficiency. Protein S deficiency and with Sneddon syndrome rarely encountered in the literature.

  20. Electron transfer flavoprotein deficiency: Functional and molecular aspects

    DEFF Research Database (Denmark)

    Schiff, M; Froissart, R; Olsen, Rikke Katrine Jentoft

    2006-01-01

    Multiple acyl-CoA dehydrogenase deficiency (MADD) is a recessively inherited metabolic disorder that can be due to a deficiency of electron transfer flavoprotein (ETF) or its dehydrogenase (ETF-ubiquinone oxidoreductase). ETF is a mitochondrial matrix protein consisting of alpha- (30kDa) and beta...

  1. Class switch recombination in selective IgA-deficient subjects

    DEFF Research Database (Denmark)

    Jensen, Lone Hummelshøj; Ryder, L P; Nielsen, L K;

    2006-01-01

    Selective IgA deficiency is a common immunodeficiency in Caucasians, but the molecular basis of the disorder remains elusive. To address this issue we examined the molecular events leading to IgA production. Naive IgD positive B cells were purified from four donors with IgA deficiency and four co...

  2. Iron and Folate-Deficiency Anaemias.

    Science.gov (United States)

    Hercberg, Serge

    1990-01-01

    Nutritional anemia is believed to be the most widespread nutritional disorder in the world. While it generally affects developing countries, developed countries are also affected to an extent sufficient to justify the implementation of preventive measures at a national level. This report focuses on iron and folate deficiencies, which are by far…

  3. Periodic fever and mevalonate kinase deficiency

    NARCIS (Netherlands)

    Frenkel, Joost

    2002-01-01

    Mevalonate kinase (MK) deficiency is an autosomal recessive disorder, caused by mutations in the MVK-gene on chromosome 12q24. The affected enzyme catalyzes an early step in isoprenoid biosynthesis, the pathway that produces cholesterol and several non-sterol isoprenoids. The clinical spectrum inclu

  4. Iron and Folate-Deficiency Anaemias.

    Science.gov (United States)

    Hercberg, Serge

    1990-01-01

    Nutritional anemia is believed to be the most widespread nutritional disorder in the world. While it generally affects developing countries, developed countries are also affected to an extent sufficient to justify the implementation of preventive measures at a national level. This report focuses on iron and folate deficiencies, which are by far…

  5. Vitamin D deficiency and heart disease

    NARCIS (Netherlands)

    Pilz, Stefan; Tomaschitz, Andreas; Drechsler, Christiane; de Boer, Rudolf A.

    2011-01-01

    Vitamin D deficiency is present in the vast majority of patients with chronic kidney disease (CKD), and correcting a poor vitamin D status is recommended as a treatment of CKD-mineral and bone disorders. In this review, we summarize the molecular and clinical data on the role of vitamin D status for

  6. New insights into iron deficiency and iron deficiency anemia.

    Science.gov (United States)

    Camaschella, Clara

    2017-02-13

    Recent advances in iron metabolism have stimulated new interest in iron deficiency (ID) and its anemia (IDA), common conditions worldwide. Absolute ID/IDA, i.e. the decrease of total body iron, is easily diagnosed based on decreased levels of serum ferritin and transferrin saturation. Relative lack of iron in specific organs/tissues, and IDA in the context of inflammatory disorders, are diagnosed based on arbitrary cut offs of ferritin and transferrin saturation and/or marker combination (as the soluble transferrin receptor/ferritin index) in an appropriate clinical context. Most ID patients are candidate to traditional treatment with oral iron salts, while high hepcidin levels block their absorption in inflammatory disorders. New iron preparations and new treatment modalities are available: high-dose intravenous iron compounds are becoming popular and indications to their use are increasing, although long-term side effects remain to be evaluated.

  7. Thyroid disorders in mild iodine deficiency

    DEFF Research Database (Denmark)

    Laurberg, P; Nøhr, S B; Pedersen, K M

    2000-01-01

    in elderly subjects, especially women, with risk of cardiac arrhythmias, osteoporosis, and muscle wasting. The hyperthyroidism is caused by autonomous nodular growth and function of the thyroid gland and it is accompanied by a high frequency of goiter. Pregnant women and small children are not immediately...

  8. Carnitine Deficiency and Pregnancy

    Directory of Open Access Journals (Sweden)

    Anouk de Bruyn

    2015-01-01

    Full Text Available We present two cases of carnitine deficiency in pregnancy. In our first case, systematic screening revealed L-carnitine deficiency in the first born of an asymptomatic mother. In the course of her second pregnancy, maternal carnitine levels showed a deficiency as well. In a second case, a mother known with carnitine deficiency under supplementation was followed throughout her pregnancy. Both pregnancies had an uneventful outcome. Because carnitine deficiency can have serious complications, supplementation with carnitine is advised. This supplementation should be continued throughout pregnancy according to plasma concentrations.

  9. Universal salt iodization is successful in Kashmiri population as iodine deficiency no longer exists in pregnant mothers and their neonates: Data from a tertiary care hospital in North India.

    Science.gov (United States)

    Charoo, Bashir Ahmed; Sofi, Riyaz Ahmed; Nisar, Sobia; Shah, Parvaiz A; Taing, Shenaz; Jeelani, Henaan; Ahmed, Fayaz; Parveen, Shameem; Shah, Zaffar Amin; Mudasir, Syed; Malik, Masood; Ganie, Mohd Ashraf

    2013-03-01

    Normal pregnancy results in a number of important physiological and hormonal changes that alter thyroid function. In pregnancy, the thyroid gland being subjected to physiological stress undergoes several adaptations to maintain sufficient output of thyroid hormones for both mother and fetus. Consequently, pregnant women have been found to be particularly vulnerable to iodine deficiency disorders (IDD), and compromised iodine status during pregnancy has been found to affect the thyroid function and cognition in the neonates. Two decades after successful universal salt iodization (USI) in the country, there is scarce data on the iodine status of the pregnant women and their neonates. This is more relevant in areas like Kashmir valley part of sub-Himalayan belt, an endemic region for IDD in the past. The objective was to estimate Urinary Iodine status in pregnant women, the most vulnerable population. We studied thyroid function [free T3 (FT3), T3, free T4 (FT4), T4, thyroid stimulating hormone (TSH)] and urinary iodine excretion (UIE) in the 1(st), 2(nd), and 3(rd) trimesters and at early neonatal period in neonates in 81 mother-infant pairs (hypothyroid women on replacement) and compared them with 51 control mother-infant pairs (euthyroid). Mean age of cases (29.42 + 3.56 years) was comparable to that of controls (29.87 + 3.37 years). The thyroid function evaluation done at baseline revealed the following: FT3 2.92 ± 0.76 versus 3.71 ± 0.54 pg/ml, T3 1.38 ± 0.37 versus 1.70 ± 0.35 ng/dl, FT4 1.22 ± 0.33 versus 1.52 ± 0.21 ng/dl, T4 9.54 ± 2.34 versus 13.55 ± 2.16 μg/dl, and TSH 7.92 ± 2.88 versus 4.14 ± 1.06 μIU/ml in cases versus controls (P > 0.01), respectively. The 2(nd) to 6(th) day thyroid function of neonates born to case and control mothers revealed T3 of 1.46 ± 0.44 versus 1.48 ± 0.36 ng/dl, T4 of 12.92 ± 2.57 versus 11.76 ± 1.78 μg/dl, and TSH of 3.64 ± 1.92 versus 3.82 ± 1.45 μIU/ml, respectively. UIE was similar (139.12 ± 20.75 vs

  10. Universal salt iodization is successful in Kashmiri population as iodine deficiency no longer exists in pregnant mothers and their neonates: Data from a tertiary care hospital in North India

    Directory of Open Access Journals (Sweden)

    Bashir Ahmed Charoo

    2013-01-01

    Full Text Available Introduction: Normal pregnancy results in a number of important physiological and hormonal changes that alter thyroid function. In pregnancy, the thyroid gland being subjected to physiological stress undergoes several adaptations to maintain sufficient output of thyroid hormones for both mother and fetus. Consequently, pregnant women have been found to be particularly vulnerable to iodine deficiency disorders (IDD, and compromised iodine status during pregnancy has been found to affect the thyroid function and cognition in the neonates. Objectives: Two decades after successful universal salt iodization (USI in the country, there is scarce data on the iodine status of the pregnant women and their neonates. This is more relevant in areas like Kashmir valley part of sub-Himalayan belt, an endemic region for IDD in the past.The objective was to estimate Urinary Iodine status in pregnant women, the most vulnerable population. Materials and Methods: We studied thyroid function [free T3 (FT3, T3, free T4 (FT4, T4, thyroid stimulating hormone (TSH] and urinary iodine excretion (UIE in the 1 st , 2 nd , and 3 rd trimesters and at early neonatal period in neonates in 81 mother-infant pairs (hypothyroid women on replacement and compared them with 51 control mother-infant pairs (euthyroid. Results: Mean age of cases (29.42 + 3.56 years was comparable to that of controls (29.87 + 3.37 years. The thyroid function evaluation done at baseline revealed the following: FT3 2.92 ± 0.76 versus 3.71 ± 0.54 pg/ml, T3 1.38 ± 0.37 versus 1.70 ± 0.35 ng/dl, FT4 1.22 ± 0.33 versus 1.52 ± 0.21 ng/dl, T4 9.54 ± 2.34 versus 13.55 ± 2.16 μg/dl, and TSH 7.92 ± 2.88 versus 4.14 ± 1.06 μIU/ml in cases versus controls ( P < 0.01, respectively. The 2 nd to 6 th day thyroid function of neonates born to case and control mothers revealed T3 of 1.46 ± 0.44 versus 1.48 ± 0.36 ng/dl, T4 of 12.92 ± 2.57 versus 11.76 ± 1.78 μg/dl, and TSH of 3.64 ± 1.92 versus 3.82 ± 1

  11. Iron-refractory iron deficiency anemia.

    Science.gov (United States)

    Yılmaz Keskin, Ebru; Yenicesu, İdil

    2015-03-05

    Iron is essential for life because it is indispensable for several biological reactions, such as oxygen transport, DNA synthesis, and cell proliferation. Over the past few years, our understanding of iron metabolism and its regulation has changed dramatically. New disorders of iron metabolism have emerged, and the role of iron as a cofactor in other disorders has begun to be recognized. The study of genetic conditions such as hemochromatosis and iron-refractory iron deficiency anemia (IRIDA) has provided crucial insights into the molecular mechanisms controlling iron homeostasis. In the future, these advances may be exploited to improve treatment of both genetic and acquired iron disorders. IRIDA is caused by mutations in TMPRSS6, the gene encoding matriptase-2, which downregulates hepcidin expression under conditions of iron deficiency. The typical features of this disorder are hypochromic, microcytic anemia with a very low mean corpuscular volume of erythrocytes, low transferrin saturation, no (or inadequate) response to oral iron, and only a partial response to parenteral iron. In contrast to classic iron deficiency anemia, serum ferritin levels are usually low-normal, and serum or urinary hepcidin levels are inappropriately high for the degree of anemia. Although the number of cases reported thus far in the literature does not exceed 100, this disorder is considered the most common of the "atypical" microcytic anemias. The aim of this review is to share the current knowledge on IRIDA and increase awareness in this field.

  12. Iron-Refractory Iron Deficiency Anemia

    Science.gov (United States)

    Yılmaz Keskin, Ebru; Yenicesu, İdil

    2015-01-01

    Iron is essential for life because it is indispensable for several biological reactions, such as oxygen transport, DNA synthesis, and cell proliferation. Over the past few years, our understanding of iron metabolism and its regulation has changed dramatically. New disorders of iron metabolism have emerged, and the role of iron as a cofactor in other disorders has begun to be recognized. The study of genetic conditions such as hemochromatosis and iron-refractory iron deficiency anemia (IRIDA) has provided crucial insights into the molecular mechanisms controlling iron homeostasis. In the future, these advances may be exploited to improve treatment of both genetic and acquired iron disorders. IRIDA is caused by mutations in TMPRSS6, the gene encoding matriptase-2, which downregulates hepcidin expression under conditions of iron deficiency. The typical features of this disorder are hypochromic, microcytic anemia with a very low mean corpuscular volume of erythrocytes, low transferrin saturation, no (or inadequate) response to oral iron, and only a partial response to parenteral iron. In contrast to classic iron deficiency anemia, serum ferritin levels are usually low-normal, and serum or urinary hepcidin levels are inappropriately high for the degree of anemia. Although the number of cases reported thus far in the literature does not exceed 100, this disorder is considered the most common of the “atypical” microcytic anemias. The aim of this review is to share the current knowledge on IRIDA and increase awareness in this field. PMID:25805669

  13. GPI Mount Scopus--a variant of glucosephosphate isomerase deficiency.

    Science.gov (United States)

    Shalev, O; Shalev, R S; Forman, L; Beutler, E

    1993-10-01

    Glucosephosphate isomerase (GPI) deficiency is an unusual cause of hereditary nonspherocytic hemolytic anemia. The disease, inherited as an autosomal recessive disorder, is most often manifested by symptoms and signs of chronic hemolysis, ameliorated by splenectomy. We recently diagnosed GPI deficiency in a 23-year-old Ashkenazi Jewish man who displayed the typical clinical course of this disorder. The biophysical characteristics of the GPI variant are slow electrophoretic mobility, presence of only one of the two bands normally present, and extreme thermolability. To the best of our knowledge, this is the first report of GPI deficiency in a patient of Jewish descent, and we propose to designate this enzyme variant "GPI Mount Scopus".

  14. Infections Revealing Complement Deficiency in Adults

    Science.gov (United States)

    Audemard-Verger, A.; Descloux, E.; Ponard, D.; Deroux, A.; Fantin, B.; Fieschi, C.; John, M.; Bouldouyre, A.; Karkowsi, L.; Moulis, G.; Auvinet, H.; Valla, F.; Lechiche, C.; Davido, B.; Martinot, M.; Biron, C.; Lucht, F.; Asseray, N.; Froissart, A.; Buzelé, R.; Perlat, A.; Boutboul, D.; Fremeaux-Bacchi, V.; Isnard, S.; Bienvenu, B.

    2016-01-01

    Abstract Complement system is a part of innate immunity, its main function is to protect human from bacterial infection. As genetic disorders, complement deficiencies are often diagnosed in pediatric population. However, complement deficiencies can also be revealed in adults but have been poorly investigated. Herein, we describe a case series of infections revealing complement deficiency in adults to study clinical spectrum and management of complement deficiencies. A nationwide retrospective study was conducted in French university and general hospitals in departments of internal medicine, infectious diseases enrolling patients older than 15 years old who had presented at least one infection leading to a complement deficiency diagnosis. Forty-one patients included between 2002 and 2015 in 19 different departments were enrolled in this study. The male-to-female ratio was 1.3 and the mean age at diagnosis was 28 ± 14 (15–67) years. The main clinical feature was Neisseria meningitidis meningitis 75% (n = 31/41) often involving rare serotype: Y (n = 9) and W 135 (n = 7). The main complement deficiency observed was the common final pathway deficiency 83% (n = 34/41). Half of the cohort displayed severe sepsis or septic shock at diagnosis (n = 22/41) but no patient died. No patient had family history of complement deficiency. The mean follow-up was 1.15 ± 1.95 (0.1–10) years. Half of the patients had already suffered from at least one infection before diagnosis of complement deficiency: meningitis (n = 13), pneumonia (n = 4), fulminans purpura (n = 1), or recurrent otitis (n = 1). Near one-third (n = 10/39) had received prophylactic antibiotics (cotrimoxazole or penicillin) after diagnosis of complement deficiency. The vaccination coverage rate, at the end of the follow-up, for N meningitidis, Streptococcus pneumonia, and Haemophilius influenzae were, respectively, 90% (n = 33/37), 47% (n = 17/36), and 35

  15. Choice of anesthesia in molybdenum cofactor deficiency: A case report

    Directory of Open Access Journals (Sweden)

    Metin Alkan

    2014-01-01

    Full Text Available Molybdenum cofactor (MC deficiency is defined as a progressive neurodegenerative and neurometabolic disease, characterized by convulsions, severe mental and motor retardation resistant to the treatment. Patients with MC deficiency usually need at least sedation for even minor interventions such as dental examination or treatment. Sedation or general anesthesia for these patients may be complicated due to accompanying disorders. However, we were unable to find any reports on anesthetic management of patients with MC deficiency in the literature. In this article, we intend to share our experience of a patient with MC deficiency, who had undergone dental treatment under deep sedation.

  16. Iodine supplementation during pregnancy and lactation. Position statement of the working group on disorders related to iodine deficiency and thyroid dysfunction of the Spanish Society of Endocrinology and Nutrition.

    Science.gov (United States)

    Donnay, Sergio; Arena, Jose; Lucas, Anna; Velasco, Inés; Ares, Susana

    2014-01-01

    Severe and mild iodine deficiency during pregnancy and lactation affects thyroid function of the mother and neonate as well as the infant's neuropsychological development. Studies performed in Spain confirm that most women are iodine deficient during pregnancy and lactation. Pregnant and breast feeding women and women planning to become pregnant should take iodine supplements. Copyright © 2013 SEEN. Published by Elsevier Espana. All rights reserved.

  17. A rare cause of congenital adrenal hyperplasia : Antley-Bixler syndrome due to POR deficiency

    NARCIS (Netherlands)

    Herkert, J. C.; Blaauwwiekel, E. E.; Hoek, A.; Veenstra-Knol, H. E.; Kema, I. P.; Arlt, W.; Kerstens, M. N.

    2011-01-01

    Cytochrome P(450) oxidoreductase (POR) deficiency is a recently discovered new variant of congenital adrenal hyperplasia. Distinctive features of POR deficiency are the presence of disorders of sexual development in both sexes, glucocorticoid deficiency and skeletal malformations similar to those ob

  18. Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency

    DEFF Research Database (Denmark)

    Sahebekhtiari, Navid; Thomsen, Michelle M.; Sloth, Jens Jørgen

    2016-01-01

    Deficiency of mitochondrial sulfur dioxygenase (ETHE1) causes the severe metabolic disorder ethylmalonic encephalopathy, which is characterized by early-onset encephalopathy and defective cytochrome C oxidase because of hydrogen sulfide accumulation. Although the severe systemic consequences...... of the disorder are becoming clear, the molecular effects are not well defined. Therefore, for further elucidating the effects of ETHE1-deficiency, we performed a large scale quantitative proteomics study on liver tissue from ETHE1-deficient mice. Our results demonstrated a clear link between ETHE1-deficiency...... and redox active proteins, as reflected by down-regulation of several proteins related to oxidation-reduction, such as different dehydrogenases and cytochrome P450 (CYP450) members. Furthermore, the protein data indicated impact of the ETHE1-deficiency on metabolic reprogramming through up...

  19. Acquired color vision deficiency.

    Science.gov (United States)

    Simunovic, Matthew P

    2016-01-01

    Acquired color vision deficiency occurs as the result of ocular, neurologic, or systemic disease. A wide array of conditions may affect color vision, ranging from diseases of the ocular media through to pathology of the visual cortex. Traditionally, acquired color vision deficiency is considered a separate entity from congenital color vision deficiency, although emerging clinical and molecular genetic data would suggest a degree of overlap. We review the pathophysiology of acquired color vision deficiency, the data on its prevalence, theories for the preponderance of acquired S-mechanism (or tritan) deficiency, and discuss tests of color vision. We also briefly review the types of color vision deficiencies encountered in ocular disease, with an emphasis placed on larger or more detailed clinical investigations.

  20. Maus-tratos em crianças e adolescentes com deficiência e/ou perturbações do desenvolvimento Abuse in children and adolescents with disabilities and/or developmental disorders

    Directory of Open Access Journals (Sweden)

    Vera Cruz

    2013-03-01

    Full Text Available A presente investigação tem como principal objetivo analisar as características da associação entre deficiência e/ou perturbações do desenvolvimento e maus-tratos na população infanto-juvenil portuguesa, e destacar as respectivas implicações no domínio da educação especial. A amostra é constituída por 198 crianças e adolescentes com deficiência e/ou perturbações do desenvolvimento, que foram vítimas de maus-tratos. A informação foi recolhida através de um questionário, elaborado para este fim, e respondido por psicólogos e assistentes sociais. Em termos dos resultados obtidos, verificou-se que o maltrato misto (associação entre duas ou mais formas de maltrato foi o mais comum, seguindo-se a negligência. Os agentes de maltrato mais frequentes foram os progenitores. A detecção dos maus-tratos foi efetuada, em regra, na etapa pré-escolar, sendo as suas principais fontes as instituições/serviços que já acompanhavam a família. Foi também detectada uma elevada percentagem de problemas de saúde física e mental, de dependências e de dificuldades de inserção social nos pais destas crianças/adolescentes. A quase generalidade das crianças e famílias beneficiou de alguma intervenção após a sinalização dos maus-tratos. No que respeita a conclusões, e uma vez que os maus-tratos tendem a ocorrer cedo e em famílias com múltiplos fatores de risco, apontam-se estratégias de intervenção familiar e sublinha-se a importância que os programas de intervenção precoce podem revestir. Também se indica o papel que os professores podem desempenhar na detecção dos maus-tratos e realça-se a relevância e a composição dos programas direcionados para o ensino de estratégias de proteção e autodefesa.This study analyses characteristics of the association between disability and/or developmental disorders and abuse among Portuguese children and youth. It also underscores the consequences of this association for

  1. 2010年江苏省城市社区碘缺乏病防治知识电话调查结果分析%Analysis of a random telephone survey result of knowledge in prevention and treatment of iodine deficiency disorders in urban communities of Jiangsu province in 2010

    Institute of Scientific and Technical Information of China (English)

    王培桦; 张庆兰; 周玮; 陈杰; 汪旸; 尚莉; 夏玉婷; 高原

    2011-01-01

    目的 调查江苏省城市社区居民自主选择碘盐或不加碘食盐的行为意愿及对碘缺乏病防治知识的认知情况,为决策调整提供依据.方法 2010年,采用电脑随机抽取固定电话号码的方式,在省会(南京)和沿海(南通)两个城市主城区(每个主城区选择2个街道)居民户开展碘缺乏病防治知识电话问卷调查.调查内容包括:在碘盐和不加碘食盐同时供应的情况下,居民选择哪种盐及原因;居民是否知道碘缺乏病的危害及其防治措施;居民的个人信息(仅包括职业类别和年龄段).抽取10%的有效问卷,对关键字段进行复核调查.结果 在南京市和南通市共拨打2021个固定电话号码,获得455份有效问卷.对10.1% (46/455)的问卷进行复核,总符合率为87.0%(40/46).两市共有73.2%(333/455)的应答者在碘盐和不加碘食盐同时供应的假设下选择购买碘盐;有69.0%(314/455)的应答者听说过碘缺乏病,其中79.6% (250/314)的应答者知道碘缺乏的危害是地方性甲状腺肿,10.8%(34/314)的应答者知道碘缺乏会导致不同程度的智力损伤;对碘缺乏病的预防方法,有69.4%(218/314)的应答者知道吃碘盐,有41.1%(129/314)的应答者知道吃紫菜、海带可以防治碘缺乏.结论 江苏省城市社区碘缺乏病防治健康教育、健康促进成效显著,但仍然存在部分群众防治意识模糊的现象.在现行盐业管理体制下,尚不宜过早放开碘盐和不加碘食盐市场并轨供应.%Objective To provide updated recommendations for further adjustment of iodine deficiency disorders control strategy by evaluating awareness of the dangers of iodine deficiency disorders and their prevention and control measures among local residents and the willingness of choosing iodized or non-iodized salt in urban communities of Jiangsu province.Methods Trained health service workers did questionnaire investigation on iodine deficiency disorders

  2. Iron deficiency anemia in celiac disease.

    Science.gov (United States)

    Freeman, Hugh James

    2015-08-21

    Iron is an important micronutrient that may be depleted in celiac disease. Iron deficiency and anemia may complicate well-established celiac disease, but may also be the presenting clinical feature in the absence of diarrhea or weight loss. If iron deficiency anemia occurs, it should be thoroughly evaluated, even if celiac disease has been defined since other superimposed causes of iron deficiency anemia may be present. Most often, impaired duodenal mucosal uptake of iron is evident since surface absorptive area in the duodenum is reduced, in large part, because celiac disease is an immune-mediated disorder largely focused in the proximal small intestinal mucosa. Some studies have also suggested that blood loss may occur in celiac disease, sometimes from superimposed small intestinal disorders, including ulceration or neoplastic diseases, particularly lymphoma. In addition, other associated gastric or colonic disorders may be responsible for blood loss. Rarely, an immune-mediated hemolytic disorder with increased urine iron loss may occur that may respond to a gluten-free diet. Reduced expression of different regulatory proteins critical in iron uptake has also been defined in the presence and absence of anemia. Finally, other rare causes of microcytic anemia may occur in celiac disease, including a sideroblastic form of anemia reported to have responded to a gluten-free diet.

  3. Iron deficiency anemia in celiac disease

    Science.gov (United States)

    Freeman, Hugh James

    2015-01-01

    Iron is an important micronutrient that may be depleted in celiac disease. Iron deficiency and anemia may complicate well-established celiac disease, but may also be the presenting clinical feature in the absence of diarrhea or weight loss. If iron deficiency anemia occurs, it should be thoroughly evaluated, even if celiac disease has been defined since other superimposed causes of iron deficiency anemia may be present. Most often, impaired duodenal mucosal uptake of iron is evident since surface absorptive area in the duodenum is reduced, in large part, because celiac disease is an immune-mediated disorder largely focused in the proximal small intestinal mucosa. Some studies have also suggested that blood loss may occur in celiac disease, sometimes from superimposed small intestinal disorders, including ulceration or neoplastic diseases, particularly lymphoma. In addition, other associated gastric or colonic disorders may be responsible for blood loss. Rarely, an immune-mediated hemolytic disorder with increased urine iron loss may occur that may respond to a gluten-free diet. Reduced expression of different regulatory proteins critical in iron uptake has also been defined in the presence and absence of anemia. Finally, other rare causes of microcytic anemia may occur in celiac disease, including a sideroblastic form of anemia reported to have responded to a gluten-free diet. PMID:26309349

  4. Nutritional iron deficiency

    NARCIS (Netherlands)

    Zimmermann, M.B.; Hurrell, R.F.

    2007-01-01

    Iron deficiency is one of the leading risk factors for disability and death worldwide, affecting an estimated 2 billion people. Nutritional iron deficiency arises when physiological requirements cannot be met by iron absorption from diet. Dietary iron bioavailability is low in populations consuming

  5. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Blood Tests Blood Transfusion Restless Legs Syndrome Send a link to NHLBI to someone by E-MAIL | ... Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, easily treated condition that occurs if you ...

  6. Iron deficiency anemia

    Science.gov (United States)

    Anemia - iron deficiency ... iron from old red blood cells. Iron deficiency anemia develops when your body's iron stores run low. ... You may have no symptoms if the anemia is mild. Most of the time, ... slowly. Symptoms may include: Feeling weak or tired more often ...

  7. Muscle phosphorylase kinase deficiency

    DEFF Research Database (Denmark)

    Preisler, N; Orngreen, M C; Echaniz-Laguna, A;

    2012-01-01

    To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD).......To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD)....

  8. Growth Hormone Deficiency

    Directory of Open Access Journals (Sweden)

    Ömer Tarım

    2010-05-01

    Full Text Available Growth hormone deficiency is the most promising entity in terms of response to therapy among the treatable causes of growth retardation. It may be due to genetic or acquired causes. It may be isolated or a part of multiple hormone deficiencies. Diagnostic criteria and therefore treatment indications are still disputed. (Journal of Current Pediatrics 2010; 8: 36-8

  9. Nutritional iron deficiency

    NARCIS (Netherlands)

    Zimmermann, M.B.; Hurrell, R.F.

    2007-01-01

    Iron deficiency is one of the leading risk factors for disability and death worldwide, affecting an estimated 2 billion people. Nutritional iron deficiency arises when physiological requirements cannot be met by iron absorption from diet. Dietary iron bioavailability is low in populations consuming

  10. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... periods. By following her treatment plan and making smart lifestyle choices, Susan continues to feel better and see the benefits of treatment. For more information about living with and managing iron-deficiency anemia, go to the Health Topics Iron-Deficiency Anemia article. Updated: March 26, ...

  11. Iron induced nickel deficiency

    Science.gov (United States)

    It is increasingly apparent that economic loss due to nickel (Ni) deficiency likely occurs in horticultural and agronomic crops. While most soils contain sufficient Ni to meet crop requirements, situations of Ni deficiency can arise due to antagonistic interactions with other metals. This study asse...

  12. Iron deficiency in childhood

    NARCIS (Netherlands)

    Uijterschout, L.

    2015-01-01

    Iron deficiency (ID) is the most common micronutrient deficiency in the world. Iron is involved in oxygen transport, energy metabolism, immune response, and plays an important role in brain development. In infancy, ID is associated with adverse effects on cognitive, motor, and behavioral development

  13. Deficiently Extremal Gorenstein Algebras

    Indian Academy of Sciences (India)

    Pavinder Singh

    2011-08-01

    The aim of this article is to study the homological properties of deficiently extremal Gorenstein algebras. We prove that if / is an odd deficiently extremal Gorenstein algebra with pure minimal free resolution, then the codimension of / must be odd. As an application, the structure of pure minimal free resolution of a nearly extremal Gorenstein algebra is obtained.

  14. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Blood Tests Blood Transfusion Restless Legs Syndrome Send a link to NHLBI to someone by E-MAIL | ... Iron-Deficiency Anemia? Español Iron-deficiency anemia is a common, easily treated condition that occurs if you ...

  15. Iron deficiency in childhood

    NARCIS (Netherlands)

    Uijterschout, L.

    2015-01-01

    Iron deficiency (ID) is the most common micronutrient deficiency in the world. Iron is involved in oxygen transport, energy metabolism, immune response, and plays an important role in brain development. In infancy, ID is associated with adverse effects on cognitive, motor, and behavioral development

  16. 网络成瘾患者冲动控制功能的事件相关电位研究%An event-related potential investigation of deficient inhibitory control in individuals with internet addiction disorder

    Institute of Scientific and Technical Information of China (English)

    周振和; 袁国桢; 姚建军; 李翠; 程灶火

    2010-01-01

    目的 通过对网络成瘾(IAD)个体执行视觉反应/不反应(Go/No-go)任务的事件相关电位特征检测,探讨IAD冲动控制功能缺陷的发生机制.方法 符合修订的Young网络成瘾诊断问卷(YDQ)IAD标准的26例患者作为研究组,与研究组匹配性别、年龄的26例健康人作为对照组.Go/No-go任务刺激由8个不同的双数字组成.刺激反应时间1000ms,刺激间隔1500ms.记录被试者执行任务时的脑电图.Barratt-11冲动性量表(BIS-11)评估被试者冲动性.应用BESA 5.2.0软件离线分析No-go刺激的N2波幅.结果 IAD组BIS-11总分、注意因子分、运动因子分[分别为(77.32±7.53)分,(32.04±2.34)分,(23.31±2.94)分]明显高于对照组[分别为(72.79±5.73)分,(30.27±1.85)分,(22.05±2.20)分](P<0.05),2组计划因子分差异无统计学意义(P>0.05);IAD组错误率(0.042±0.007)明显高于对照组(0.015±0.006),而正确率(0.902±0.003)明显低于对照组(0.914±0.003)(均P<0.05).重复测量的方差分析表明No-go刺激的ERP N2波幅在组间、前额电极位点以及组间×前额电极位点显示主效应(组间:F=3953,df=1,P=0.000;前额电极位点:F=541,df=9,P=0.000,组间×前额电极位点:F=306,df=9,P=0.000);组间、头皮中心电极位点以及组间×头皮中心电极位点显示主效应(组间:F=9074,df=1,P=0.000;前额电极位点:F=163,df=9,P=0.000,组间×前额电极位点:F=73,df=9,P=0.000);IAD N2波幅比对照组低.结论 IAD具有冲动控制障碍谱系的神经心理与ERP的特征,支持IAD是一种冲动控制障碍或与之相关疾病的假设.%Objective To investigate deficient inhibitory control in individuals with IAD using a visual go/no-go task by ERPs. Methods 26 individuals met YDQ criteria for IAD were enrolled as research group and marched sexual and age 26 healthy person enrolled as control group. BIS-11 was used for measures of impulsivity.A go/no-go task involved eight different two-digit numerical stimuli. The response

  17. IDD 2.0: Physiological Resilience

    Science.gov (United States)

    2013-04-15

    homeostatic need to prevent further increases. Furthermore, efforts to increase heat dissipation will be recruited incrementally as body temperature...acceptable homeostatic range, then no reallocation of resources is necessary and no conditioning will occur. Similarly, if the activity is never...deployment simulation Page 53 of 62 suggests that the new caloric imbalance was still sufficient to trigger a reduction in long-term homeostasis, and

  18. Paroxysmal Nonepileptic Events in Glut1 Deficiency.

    Science.gov (United States)

    Klepper, Joerg; Leiendecker, Baerbel; Eltze, Christin; Heussinger, Nicole

    2016-01-01

    View Supplementary Video Movement disorders are a major feature of Glut1 deficiency. As recently identified in adults with paroxysmal exercise-induced dystonia, similar events were reported in pediatric Glut1 deficiency. In a case series, parent videos of regular motor state and paroxysmal events were requested from children with Glut1 deficiency on clinical follow-up. A questionnaire was sent out to 60 families. Videos of nonparoxysmal/paroxysmal states in 3 children illustrated the ataxic-dystonic, choreatiform, and dyskinetic-dystonic nature of paroxysmal events. Fifty-six evaluated questionnaires confirmed this observation in 73% of patients. Events appeared to increase with age, were triggered by low ketosis, sleep deprivation, and physical exercise, and unrelated to sex, hypoglycorrhachia, SLC2A1 mutations, or type of ketogenic diet. We conclude that paroxysmal events are a major clinical feature in Glut1 deficieny, linking the pediatric disease to adult Glut1D-associated exercise-induced paroxysmal dyskinesias.

  19. Ornithine Transcarbamylase Deficiency in Iranian Children

    Directory of Open Access Journals (Sweden)

    HR Joshaghani

    2003-08-01

    Full Text Available Ammonia is a toxic material for mammalians. It is detoxificated and converted to urea in the urea cycle in liver. Each defect in the urea cycle cause increase in blood ammonia level. Ornithine transcarbamylase enzyme (OTC is the second enzyme in the urea cycle that exists in mitochondria. OTC deficiency is the most common hereditary disorder in the urea cycle. In this study, 45 hyper ammonia patients were selected (2-13 years old and assayed for serum OTC, serum aspartate aminotransferase (AST, serum alanine aminotransferase (ALT. Four patients (n=45, 8.9% suffered from OTC deficiency. One patient was male (n=29, 3.4% and the others were female (n=16, 18.8%. About half of children (53.3 with hyper ammonia have liver disease. Further studies on OTC deficiency and OTC gene mutations in Iran are recommended.

  20. Phenylalanine hydroxylase deficiency: diagnosis and management guideline.

    Science.gov (United States)

    Vockley, Jerry; Andersson, Hans C; Antshel, Kevin M; Braverman, Nancy E; Burton, Barbara K; Frazier, Dianne M; Mitchell, John; Smith, Wendy E; Thompson, Barry H; Berry, Susan A

    2014-02-01

    Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the accumulation of phenylalanine in the blood of affected individuals and was the first inborn error of metabolism to be identified through population screening. Early identification and treatment prevent the most dramatic clinical sequelae of the disorder, but new neurodevelopmental and psychological problems have emerged in individuals treated from birth. The additional unanticipated recognition of a toxic effect of elevated maternal phenylalanine on fetal development has added to a general call in the field for treatment for life. Two major conferences sponsored by the National Institutes of Health held >10 years apart reviewed the state of knowledge in the field of phenylalanine hydroxylase deficiency, but there are no generally accepted recommendations for therapy. The purpose of this guideline is to review the strength of the medical literature relative to the treatment of phenylalanine hydroxylase deficiency and to develop recommendations for diagnosis and therapy of this disorder. Evidence review from the original National Institutes of Health consensus conference and a recent update by the Agency for Healthcare Research and Quality was used to address key questions in the diagnosis and treatment of phenylalanine hydroxylase deficiency by a working group established by the American College of Medical Genetics and Genomics. The group met by phone and in person over the course of a year to review these reports, develop recommendations, and identify key gaps in our knowledge of this disorder. Above all, treatment of phenylalanine hydroxylase deficiency must be life long, with a goal of maintaining blood phenylalanine in the range of 120-360 µmol/l. Treatment has predominantly been dietary manipulation, and use of low protein and phenylalanine medical foods is likely to remain a major component of therapy for the immediate future. Pharmacotherapy for phenylalanine

  1. Disorders of heavy metals.

    Science.gov (United States)

    Woimant, France; Trocello, Jean-Marc

    2014-01-01

    Heavy metals and trace elements play an important role in relation to the physiology and pathology of the nervous system. Neurologic diseases related to disorders of metabolism of copper and iron are reviewed. Copper disorders are divided into two classes: ATP7A- or ATP7B-related inherited copper transport disorders (Menkes disease, occipital horn syndrome, ATP7A-related distal motor neuropathy, and Wilson disease) and acquired diseases associated with copper deficiency or copper excess. Iron brain disorders are divided into genetic neurodegeneration with brain iron accumulation (NBIA, neuroferritinopathy, and aceruloplasminemia), genetic systemic iron accumulation with neurologic features (hemochromatosis), and acquired diseases associated with iron excess (superficial siderosis) or iron deficiency (restless leg syndrome). The main features of cadmium, lead, aluminum, mercury, and manganese toxicity are summarized.

  2. Iron deficiency: new insights into diagnosis and treatment.

    Science.gov (United States)

    Camaschella, Clara

    2015-01-01

    Iron deficiency and iron deficiency anemia are common conditions worldwide affecting especially children and young women. In developing countries, iron deficiency is caused by poor iron intake and/or parasitic infection, whereas vegetarian dietary choices, poor iron absorption, and chronic blood loss are common causes in high-income countries. Erythropoiesis stimulating agents can result in functional iron deficiency for erythropoiesis even when stores are iron-replete. Diagnosis of iron deficiency is straightforward, except when it occurs in the context of inflammatory disorders. Oral iron salts correct absolute iron deficiency in most patients, because low hepcidin levels facilitate iron absorption. Unfortunately frequent side effects limit oral iron efficacy. Intravenous iron is increasingly utilized, because currently available preparations allow rapid normalization of total body iron even with a single infusion and are effective also in functional iron deficiency and in iron deficiency associated with inflammatory disorders. The evidence is accumulating that these preparations are safe and effective. However, long-term safety issues of high doses of iron need to be further explored.

  3. Behavioral impairments in animal models for zinc deficiency

    Directory of Open Access Journals (Sweden)

    Simone eHagmeyer

    2015-01-01

    Full Text Available Apart from teratogenic and pathological effects of zinc deficiency such as the occurrence of skin lesions, anorexia, growth retardation, depressed wound healing, altered immune function, impaired night vision, and alterations in taste and smell acuity, characteristic behavioral changes in animal models and human patients suffering from zinc deficiency have been observed. Given that it is estimated that about 17% of the worldwide population are at risk for zinc deficiency and that zinc deficiency is associated with a variety of brain disorders and disease states in humans, it is of major interest to investigate, how these behavioral changes will affect the individual and a putative course of a disease. Thus, here, we provide a state of the art overview about the behavioral phenotypes observed in various models of zinc deficiency, among them environmentally produced zinc deficient animals as well as animal models based on a genetic alteration of a particular zinc homeostasis gene. Finally, we compare the behavioral phenotypes to the human condition of mild to severe zinc deficiency and provide a model, how zinc deficiency that is associated with many neurodegenerative and neuropsychological disorders might modify the disease pathologies.

  4. Effects of feeding selenium deficient diets to rhesus monkeys (Macaca Mulatta)

    Energy Technology Data Exchange (ETDEWEB)

    Butler, J.A.; Whanger, P.D.; Patton, N.M.

    1988-02-01

    Pregnant rhesus monkeys (Macaca mulatta) were fed either selenium (Se) deficient or Se supplemented diets with adequate vitamin E. Except for some cardiac irregularities in the first babies born to these females, no physiological disorders due to Se deficiency were seen in a subsequent offspring. Plasma and erythrocyte glutathione peroxidase activities and blood Se levels increased in the Se supplemented monkeys but decreased in the deficient ones. The data indicated that hair Se levels reflect long term exposure to this element. In a very preliminary experiment, evidence was obtained to indicate that dietary protein deficiency along with Se deficiency will generate cardiomyopathic lesions characteristic of Se deficiency. It is hypothesized that, in addition to Se deficiency, another dietary deficiency (or abnormality) is necessary to produce Se deficiency lesions in higher primates. Higher glutathione transferase (or non-Se glutathione peroxidase) activity in tissues of rhesus monkeys may account for this resistance.

  5. Lipoprotein lipase deficiency with visceral xanthomas

    Energy Technology Data Exchange (ETDEWEB)

    Servaes, Sabah; Bellah, Richard [Department of Radiology, Philadelphia, PA (United States); Verma, Ritu [Department of Gastroenterology, Philadelphia, PA (United States); Pawel, Bruce [Department of Pathology, Philadelphia, PA (United States)

    2010-08-15

    Lipoprotein lipase deficiency (LLD) is a rare metabolic disorder that typically presents with skin xanthomas and pancreatitis in childhood. We report a case of LLD in an infant who presented with jaundice caused by a pancreatic head mass. Abdominal imaging also incidentally revealed hyperechoic renal masses caused by renal xanthomas. This appearance of the multiple abdominal masses makes this a unique infantile presentation of LLD. (orig.)

  6. Implementation of Double Fortified Salt in India is based on Low Scientific Evidence

    Directory of Open Access Journals (Sweden)

    Umesh Kapil

    2014-12-01

    Full Text Available Micronutrient malnutrition (MNM can affect all age groups, but young children and women of reproductive age are most at risk of developing micronutrient deficiencies. Iodine Deficiency Disorders (IDD and Iron Deficiency Anaemia (IDA are two important Public Health problems. Out of 342 districts surveyed, so far IDD is a major public health problem in 286 districts. No state in India is free from iodine deficiency (1. Iron Deficiency Anaemia is reported in about 70% of the population across all age groups (2. The magnitude of Vitamin B12 deficiency is documented to be about 73.5% in the adolescents (3 and Zinc deficiency is reported in about 49.4% amongst children (4. In addition, there are deficiencies of other micronutrients and minerals like Folic Acid, Vitamin D which are of public health concern. Fortification of food is one of three primary strategies to combat micronutrient deficiencies. Fortification is defined by the World Health Organization (WHO and Food and Agricultural Organization (FAO as "the practice of deliberately increasing the content of an essential micronutrient, i.e. Vitamins and minerals (including trace elements in a food irrespective of whether the nutrients were originally present in the food before processing or not, so as to improve the nutritional quality of the food supply and to provide a public health benefit with minimal risk to health”. Food fortification is one of the most cost effective ways to make up for the deficient vitamins and minerals in low quality diets. The edible salt is the most widely used food vehicle for fortification with micronutrients (5. Fortification of salt with iodine, to prevent IDD, under the National Iodine Deficiency Disorders Control Programme, is in operation since 1962 (1. This intervention has led to significant prevention and control of IDD (6. Recently, the technology has been developed for fortification of salt with iron and iodine commonly known as DFS, to simultaneously

  7. Vitamin D deficiency and stroke

    Directory of Open Access Journals (Sweden)

    2012-12-01

    Full Text Available Vitamin D comprises a group of fat-soluble pro-hormones, obtained from sun exposure, food, and supplements, and it must undergo two hydroxylation reactions to be activated in the body. Several studies have shown the role of vitamin D in mineral metabolism regulation, especially calcium, phosphorus, and bone metabolism. Some factors such as inadequate vitamin intake and liver or kidney disorders can lead to vitamin D deficiency. Furthermore, vitamin D malnutrition may also be linked to susceptibility to chronic diseases such as heart failure, peripheral artery disease, high blood pressure, cognitive impairment including foggy brain and memory loss, and autoimmune diseases including diabetes type I. Recent research has revealed that low levels of vitamin D increase the risk of cardiovascular-related morbidity (Sato et al., 2004 and mortality (Pilz et al., 2008. Also, hypertension contributes to a reduction in bone mineral density and increase in the incidence of stroke and death. This article reviews the function and physiology of vitamin D and examines the effects of vitamin D deficiency on susceptibility to stroke, as a cardiovascular event, and its morbidity and subsequent mortality.

  8. [Deficiency, disability, neurology and art].

    Science.gov (United States)

    Cano de la Cuerda, Roberto; Collado-Vazquez, Susana

    2010-07-16

    Disability is a complex phenomenon, and the ways it has been conceived, explained and treated have varied notably throughout history. As the years go by, human beings have evolved and, at the same time, so have medicine and art. And therein lies the extraordinary value, from the ontological point of view, of many works of art, which would never have been produced without the intervention of disease and the practice of the medical art. The aim of this work is to address the study of some deficiencies, disabilities and neurological pathologies that have been represented in paintings at different times in history. This article begins with the study of pictures that deal with dwarves and other misnamed freaks of nature that have been represented by painters from Velazquez to Titian or Rubens. The study looks at paintings of cripples, pictures containing the mentally disabled, with examples by Bruegel the Elder or Munch, as well as certain neurological disorders that have been portrayed in paintings, such as Escaping criticism by Pere Borrell or Sad inheritance by Sorolla. Likewise, we also reflect on the trite concept of disease and artistic creativity. The artistic representation of deficiency and disability has evolved in parallel to the feelings of men and women in each period of history and, at the same time, their social evolution. Nowadays, this concept continues to advance and some artists no longer represent the sick person, but instead the illness itself.

  9. Overview: recognizing the problem of magnesium deficiency

    Energy Technology Data Exchange (ETDEWEB)

    Seelig, M.S.

    1988-01-01

    The magnesium content of the usual American diet is less than the recommended dietary allowance. Excesses of some macro- and micro-nutrients interact with Mg, increasing its requirements. Marginal deficiency of Mg is not associated with hypomagnesemia, is not characterized by typical manifestations, as is thus difficult to diagnose. Serum or plasma Mg levels are held within narrow limits unless tissue levels are very low, or renal function is poor. Vulnerability to Mg deficiency increases during growth and development, pregnancy, when under physical or psychological stress, and during illness or its treatment that interferes with absorption or causes loss of Mg. Evidence of biochemical changes of early Mg deficiency is rarely sought, although the roles of Mg in many enzyme systems are recognized. The effects of Mg deficiency on metabolism, even in disorders caused by vitamin dependencies in which Mg is a co-factor, are largely unexplored. Deficiency of Mg is diagnosed confidently when the laboratory reports hypomagnesemia in patients with convulsions or arrhythmias. Without these signs, Mg levels are not often ordered, even in the presence of neuromuscular irritability such as respond to Mg repletion. Because Mg supplementation or Mg-sparing drugs protect against premature or ectopic heart beats and sudden death, to which diuretic-treated hypertensive patients are at risk, it is increasingly being advised that their Mg status be determined.

  10. The epidemiology of global micronutrient deficiencies.

    Science.gov (United States)

    Bailey, Regan L; West, Keith P; Black, Robert E

    2015-01-01

    Micronutrients are essential to sustain life and for optimal physiological function. Widespread global micronutrient deficiencies (MNDs) exist, with pregnant women and their children under 5 years at the highest risk. Iron, iodine, folate, vitamin A, and zinc deficiencies are the most widespread MNDs, and all these MNDs are common contributors to poor growth, intellectual impairments, perinatal complications, and increased risk of morbidity and mortality. Iron deficiency is the most common MND worldwide and leads to microcytic anemia, decreased capacity for work, as well as impaired immune and endocrine function. Iodine deficiency disorder is also widespread and results in goiter, mental retardation, or reduced cognitive function. Adequate zinc is necessary for optimal immune function, and deficiency is associated with an increased incidence of diarrhea and acute respiratory infections, major causes of death in those diversification. It is widely accepted that intervention in the first 1,000 days is critical to break the cycle of malnutrition; however, a coordinated, sustainable commitment to scaling up nutrition at the global level is still needed. Understanding the epidemiology of MNDs is critical to understand what intervention strategies will work best under different conditions.

  11. Complement genetics, deficiencies, and disease associations.

    Science.gov (United States)

    Mayilyan, Karine R

    2012-07-01

    The complement system is a key component of innate immunity. More than 45 genes encoding the proteins of complement components or their isotypes and subunits, receptors, and regulators have been discovered. These genes are distributed throughout different chromosomes, with 19 genes comprising three significant complement gene clusters in the human genome. Genetic deficiency of any early component of the classical pathway (C1q, C1r/s, C2, C4, and C3) is associated with autoimmune diseases due to the failure of clearance of immune complexes (IC) and apoptotic materials, and the impairment of normal humoral response. Deficiencies of mannan-binding lectin (MBL) and the early components of the alternative (factor D, properdin) and terminal pathways (from C3 onward components: C5, C6, C7, C8, C9) increase susceptibility to infections and their recurrence. While the association of MBL deficiency with a number of autoimmune and infectious disorders has been well established, the effects of the deficiency of other lectin pathway components (ficolins, MASPs) have been less extensively investigated due to our incomplete knowledge of the genetic background of such deficiencies and the functional activity of those components. For complement regulators and receptors, the consequences of their genetic deficiency vary depending on their specific involvement in the regulatory or signalling steps within the complement cascade and beyond. This article reviews current knowledge and concepts about the genetic load of complement component deficiencies and their association with diseases. An integrative presentation of genetic data with the latest updates provides a background to further investigations of the disease association investigations of the complement system from the perspective of systems biology and systems genetics.

  12. The role of cytokine deficiencies and cytokine autoantibodies in clinical dermatology

    DEFF Research Database (Denmark)

    Liszewski, Walter; Gniadecki, Robert

    2016-01-01

    Cytokines are small, secreted proteins that are essential for promoting and maintaining a normal immune response. Upregulation of cytokines frequently occurs in autoimmune and inflammatory diseases. Conversely, several immunodeficiency, autoimmune and autoinflammatory disorders are known to occur...... review the role of cytokine deficiencies and cytokine autoantibodies in immunodeficiency syndromes, as well as in autoimmune disorders. Finally, we will examine autoinflammatory disorders due to cytokine deficiencies....

  13. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Events Spokespeople Email Alerts E-Newsletters About NHLBI Organization NHLBI Director Budget, Planning, & Legislative Advisory Committees Jobs ... severity of the condition. Treatments may include dietary changes, medicines, and surgery. Severe iron-deficiency anemia may ...

  14. Factor II deficiency

    Science.gov (United States)

    ... if one or more of these factors are missing or are not functioning like they should. Factor II is one such coagulation factor. Factor II deficiency runs in families (inherited) and is very rare. Both parents must ...

  15. Factor VII deficiency

    Science.gov (United States)

    ... if one or more of these factors are missing or are not functioning like they should. Factor VII is one such coagulation factor. Factor VII deficiency runs in families (inherited) and is very rare. Both parents must ...

  16. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... of Intramural Research Research Resources Research Meeting Summaries Technology Transfer Clinical Trials What Are Clinical Trials? Children & ... of the condition. Treatments may include dietary changes, medicines, and surgery. Severe iron-deficiency anemia may require ...

  17. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... iron-rich protein that carries oxygen from the lungs to the rest of the body. Iron-deficiency ... 2011 This video—presented by the National Heart, Lung, and Blood Institute, part of the National Institutes ...

  18. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... CAUSES WHO IS AT RISK SIGNS & SYMPTOMS DIAGNOSIS TREATMENTS PREVENTION LIVING WITH CLINICAL TRIALS LINKS Related Topics ... Doctors usually can successfully treat iron-deficiency anemia. Treatment will depend on the cause and severity of ...

  19. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... deficiency anemia may require treatment in a hospital, blood transfusions , iron injections, or intravenous iron therapy. Rate This ... video—presented by the National Heart, Lung, and Blood Institute, part of the National ...

  20. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... such as tiredness, poor skin tone, dizziness, and depression. After her doctor diagnosed her with iron-deficiency ... to stop her monthly periods. By following her treatment plan and making smart lifestyle choices, Susan continues ...

  1. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Digg. Share this page from the NHLBI on Facebook. Add this link to the NHLBI to my ... Deficiency Anemia article. Updated: March 26, 2014 Twitter Facebook YouTube Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA ...

  2. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... chest pain, and other symptoms. Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in children, and other complications. Infants and young children and ...

  3. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Events Spokespeople Email Alerts E-Newsletters About NHLBI Organization NHLBI Director Budget, Planning, & Legislative Advisory Committees Jobs ... food. Overview Iron-deficiency anemia is a common type of anemia . The term "anemia" usually refers to ...

  4. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Events Spokespeople Email Alerts E-Newsletters About NHLBI Organization NHLBI Director Budget, Planning, & Legislative Advisory Committees Jobs ... the body. Iron-deficiency anemia usually develops over time if your body doesn't have enough iron ...

  5. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... chest pain, and other symptoms. Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in children, and other complications. Infants and young children and ...

  6. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... CAUSES WHO IS AT RISK SIGNS & SYMPTOMS DIAGNOSIS TREATMENTS PREVENTION LIVING WITH CLINICAL TRIALS LINKS Related Topics ... Doctors usually can successfully treat iron-deficiency anemia. Treatment will depend on the cause and severity of ...

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... a waste product) from your body. Anemia also can occur if your red blood cells don't ... have less hemoglobin than normal. Iron-deficiency anemia can cause fatigue (tiredness), shortness of breath, chest pain, ...

  8. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Intramural Research Research Resources Research Meeting Summaries Technology Transfer Clinical Trials What Are Clinical Trials? Children & Clinical ... iron-deficiency anemia may require treatment in a hospital, blood transfusions , iron injections, or intravenous iron therapy. ...

  9. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... symptoms. Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in ... 18/2011 This video—presented by the National Heart, Lung, and Blood Institute, part of the National ...

  10. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... of breath, chest pain, and other symptoms. Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in children, and other complications. Infants and young children and ...

  11. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... Digg. Share this page from the NHLBI on Facebook. Add this link to the NHLBI to my ... Deficiency Anemia article. Updated: March 26, 2014 Twitter Facebook YouTube Google+ SITE INDEX ACCESSIBILITY PRIVACY STATEMENT FOIA ...

  12. Iron deficiency anemia

    OpenAIRE

    Naigamwalla, Dinaz Z.; Webb, Jinelle A.; Giger, Urs

    2012-01-01

    Iron is essential to virtually all living organisms and is integral to multiple metabolic functions. The most important function is oxygen transport in hemoglobin. Iron deficiency anemia in dogs and cats is usually caused by chronic blood loss and can be discovered incidentally as animals may have adapted to the anemia. Severe iron deficiency is characterized by a microcytic, hypochromic, potentially severe anemia with a variable regenerative response. Iron metabolism and homeostasis will be ...

  13. Glucose-6-phosphatase deficiency.

    OpenAIRE

    Labrune Philippe; Gajdos Vincent; Eberschweiler Pascale; Hubert-Buron Aurélie; Petit François; Vianey-Saban Christine; Boudjemline Alix; Piraud Monique; Froissart Roseline

    2011-01-01

    Abstract Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more frequent type, representing about 80% of GSDI patients. The disease commonly manifests, betw...

  14. Sleep Deficiency and Deprivation Leading to Cardiovascular Disease

    OpenAIRE

    Michelle Kohansieh; Amgad N. Makaryus

    2015-01-01

    Sleep plays a vital role in an individual’s mental, emotional, and physiological well-being. Not only does sleep deficiency lead to neurological and psychological disorders, but also the literature has explored the adverse effects of sleep deficiency on the cardiovascular system. Decreased quantity and quality of sleep have been linked to cardiovascular disease (CVD) risk factors, such as hypertension, obesity, diabetes, and dyslipidemia. We explore the literature correlating primary sleep de...

  15. Optic neuropathy in a patient with pyruvate dehydrogenase deficiency

    Energy Technology Data Exchange (ETDEWEB)

    Small, Juan E. [Massachusetts General Hospital and Harvard Medical School, Department of Radiology, Boston, MA (United States); Gonzalez, Guido E. [Massachusetts Eye and Ear Infirmary and Harvard Medical School, Department of Radiology, Boston, MA (United States); Clinica Alemana de Santiago, Departmento de Imagenes, Santiago (Chile); Nagao, Karina E.; Walton, David S. [Massachusetts Eye and Ear Infirmary and Harvard Medical School, Department of Ophthalmology, Boston, MA (United States); Caruso, Paul A. [Massachusetts Eye and Ear Infirmary and Harvard Medical School, Department of Radiology, Boston, MA (United States)

    2009-10-15

    Pyruvate dehydrogenase (PDH) deficiency is a genetic disorder of mitochondrial metabolism. The clinical manifestations range from severe neonatal lactic acidosis to chronic neurodegeneration. Optic neuropathy is an uncommon clinical sequela and the imaging findings of optic neuropathy in these patients have not previously been described. We present a patient with PDH deficiency with bilateral decreased vision in whom MRI demonstrated bilateral optic neuropathy and chiasmopathy. (orig.)

  16. Severe combined immunodeficiency due to adenosine deaminase deficiency.

    Science.gov (United States)

    Hussain, Waqar; Batool, Asma; Ahmed, Tahir Aziz; Bashir, Muhammad Mukarram

    2012-03-01

    Severe Combined Immunodeficiency is the term applied to a group of rare genetic disorders characterised by defective or absent T and B cell functions. Patients usually present in first 6 months of life with respiratory/gastrointestinal tract infections and failure to thrive. Among the various types of severe combined immunodeficiency, enzyme deficiencies are relatively less common. We report the case of a 6 years old girl having severe combined immunodeficiency due to adenosine deaminase deficiency.

  17. Mild maternal iron deficiency anemia during pregnancy and lactation in guinea pigs causes abnormal auditory function in the offspring.

    Science.gov (United States)

    Jougleux, Jean-Luc; Rioux, France M; Church, Michael W; Fiset, Sylvain; Surette, Marc E

    2011-07-01

    Iron deficiency (ID) anemia (IDA) adversely affects different aspects of the nervous system such as myelinogenesis, neurotransmitters synthesis, brain myelin composition, and brain fatty acid and eicosanoid metabolism. Infant neurophysiological outcome in response to maternal IDA is underexplored, especially mild to moderate maternal IDA. Furthermore, most human research has focused on childhood ID rather than prenatal or neonatal ID. Thus, our study evaluated the consequences of mild maternal IDA during pregnancy and lactation on the offsprings' auditory function using the auditory brainstem response (ABR). This technique provides objective measures of auditory acuity, neural transmission times along the peripheral and brainstem portions of the auditory pathway, and postnatal brain maturation. Female guinea pigs (n = 10/group) were fed an iron sufficient diet (ISD) or an iron deficient diet (IDD) (144 and 11.7 mg iron/kg) during their acclimation, gestation, and lactation periods. From postnatal d (PNd) 9 onward, the ISD was given to all weaned offspring. ABR were collected from the offspring on PNd24 using a broad range of stimulus intensities in response to 2, 4, 8, 16, and 32 kHz tone pips. IDA siblings (n = 4), [corrected] compared with the IS siblings (n = 5), had significantly elevated ABR thresholds (hearing loss) in response to all tone pips. These physiological disturbances were primarily due to a sensorineural hearing loss, as revealed by the ABR's latency-intensity curves. These results indicate that mild maternal IDA during gestation and lactation altered the hearing and nervous system development of the young offspring.

  18. The clinical consequences of sucrase-isomaltase deficiency.

    Science.gov (United States)

    Cohen, Stanley A

    2016-12-01

    Primary sucrase-isomaltase deficiency, originally thought to be a homozygous recessive disorder, has been found to have numerous genetic variants that alone or in combination (compound heterozygosity) express varying degrees of clinical illness, most commonly causing chronic diarrhea, abdominal pain, and bloating. These symptoms are also present with secondary sucrase-isomaltase deficiency. Recent investigations are providing evidence that sucrase-isomaltase deficiency is more prevalent and of greater clinical significance than previously suspected. Further research is required to correlate the specific genotypes and phenotypes with their clinical expressions and to determine the most appropriate treatment algorithm for these patients.

  19. Sleep Deficiency and Deprivation Leading to Cardiovascular Disease

    Directory of Open Access Journals (Sweden)

    Michelle Kohansieh

    2015-01-01

    Full Text Available Sleep plays a vital role in an individual’s mental, emotional, and physiological well-being. Not only does sleep deficiency lead to neurological and psychological disorders, but also the literature has explored the adverse effects of sleep deficiency on the cardiovascular system. Decreased quantity and quality of sleep have been linked to cardiovascular disease (CVD risk factors, such as hypertension, obesity, diabetes, and dyslipidemia. We explore the literature correlating primary sleep deficiency and deprivation as a cause for cardiovascular disease and cite endothelial dysfunction as a common underlying mechanism.

  20. Clinical Effect of Control-Released Methylphenidate Hydrochloride on Attention-Deficient Hyperactivity Disorder in Children%盐酸哌甲酯控释剂治疗儿童注意缺陷多动障碍的疗效

    Institute of Scientific and Technical Information of China (English)

    陈光福; 崔艳丽; 陈美清

    2011-01-01

    目的 观察中枢神经兴奋剂盐酸哌甲酯控释片对儿童注意缺陷多动障碍(ADHD)的临床疗效.方法 2005年6月-2008年12月在本科儿童多动症门诊就诊的ADHD患儿113例.男87例,女26例;年龄(8.1±2.7)岁,其中盐酸哌甲酯控释片治疗组(控释组) 86例,速释哌甲酯片治疗组(速释组) 27例.分别观察用药后2周及6个月患儿注意力和行为改善情况,以及用药的依从性.分别于治疗前、治疗1个月和6个月随访时对患儿进行视听连续整合测试(IVA-CPT)、Conner's儿童行为量表、韦氏智力量表进行疗效评价.结果 控释组和速释组用药2周内注意力和行为改善分别为91.9%、88.9%,6个月注意力和行为改善分别为96.5%、59.3%;控释组的依从性显著高于速释组.2组治疗1个月综合反应控制商数(FRCQ)、综合注意力商数(FAQ)较治疗前均明显改善(Pa<0.01),控释组6个月随访时FRCQ和FAQ仍保持较高水平.2组治疗1个月Conner's儿童行为量表6个因子得分较治疗前均明显降低(Pa<0.01),控释组治疗6个月6个因子得分均显著低于速释组(Pa<0.05).2组治疗6个月韦氏智力评定全量表IQ、言语量表IQ、操作量表IQ均明显上升(Pa<0.01).2组不良反应均较轻微.结论 哌甲酯控释治疗可有效改善ADHD核心症状,长期提高患儿的认知功能和注意力,依从性显著高于速释哌甲酯治疗,药物不良反应轻微.%Objective To observe the clinical effect of methylphenidate hydrochloride control - released tablets as central nervous system stimulant on attention - deficient hyperactivity disorder(ADHD) in children. Methods The 113 children with ADHD in our outpatients department,87 male and 26 female of the total,and the mean age (8.1 ±2.7) years old were divided into 2 groups:86 cases in control -released methylphenidate treatment group( control - released group) and 27 cases in immediate - released methylphenidate treatment group( immediate - released group

  1. Secondary Carnitine Deficiency in Dialysis Patients: Shall We Supplement It?

    Directory of Open Access Journals (Sweden)

    Ronald J.A. Wanders

    2016-07-01

    Full Text Available Carnitine, essential for fatty acid β-oxidation, is obtained from diet and through de novo biosynthesis. The organic cation/carnitine transporter 2 (OCTN2 facilitates carnitine cellular transport and kidney resorption. Carnitine depletion occurs in OCTN2-deficient patients, with serious clinical complications including cardiomyopathy, myopathy, and hypoketotic hypoglycaemia. Neonatal screening can detect OCTN2 deficiency. OCTN2-deficiency is also known as primary carnitine deficiency. Carnitine deficiency may result from fatty acid β-oxidation disorders, which are diagnosed via plasma acylcarnitine profiling, but also under other conditions including haemodialysis. Given the importance of the kidney in maintaining carnitine homeostasis, it is not unexpected that longterm haemodialysis treatment is associated with the development of secondary carnitine deficiency, characterised by low endogenous L-carnitine levels and accumulation of deleterious medium and long- chain acylcarnitines. These alterations in carnitine pool composition have been implicated in a number of dialysis-related disorders, including erythropoietin-resistant renal anaemia. The association between erythropoietin resistance and carnitine levels has been demonstrated, with the proportion of medium and long-chain acylcarnitines within the total plasma carnitine pool positively correlated with erythropoietin resistance. Recent research has demonstrated that carnitine supplementation results in a significant reduction in erythropoietin dose requirements in patients with erythropoietin-resistant anaemia. Few studies have been conducted assessing the treatment of carnitine deficiency and haemodialysisrelated cardiac complications, particularly in children. Thus, a study was recently conducted which showed that intravenous carnitine in children receiving haemodialysis significantly increased plasma carnitine.

  2. Iron deficiency anaemia.

    Science.gov (United States)

    Lopez, Anthony; Cacoub, Patrice; Macdougall, Iain C; Peyrin-Biroulet, Laurent

    2016-02-27

    Anaemia affects roughly a third of the world's population; half the cases are due to iron deficiency. It is a major and global public health problem that affects maternal and child mortality, physical performance, and referral to health-care professionals. Children aged 0-5 years, women of childbearing age, and pregnant women are particularly at risk. Several chronic diseases are frequently associated with iron deficiency anaemia--notably chronic kidney disease, chronic heart failure, cancer, and inflammatory bowel disease. Measurement of serum ferritin, transferrin saturation, serum soluble transferrin receptors, and the serum soluble transferrin receptors-ferritin index are more accurate than classic red cell indices in the diagnosis of iron deficiency anaemia. In addition to the search for and treatment of the cause of iron deficiency, treatment strategies encompass prevention, including food fortification and iron supplementation. Oral iron is usually recommended as first-line therapy, but the most recent intravenous iron formulations, which have been available for nearly a decade, seem to replenish iron stores safely and effectively. Hepcidin has a key role in iron homoeostasis and could be a future diagnostic and therapeutic target. In this Seminar, we discuss the clinical presentation, epidemiology, pathophysiology, diagnosis, and acute management of iron deficiency anaemia, and outstanding research questions for treatment.

  3. Lack of Iodine and Control%人群碘缺乏与控制

    Institute of Scientific and Technical Information of China (English)

    祖国栋; 孟宪森; 张传武

    2003-01-01

    @@ 碘缺乏病(iodine deficiency disorders,IDD)是目前全世界流行最广泛、危害最严重的地方性营养缺乏病.预防和控制IDD直接关系到人类和社会的发展,其意义非常重大.

  4. Nutrition and Goiter Status of Primary School Children in Ibadan ...

    African Journals Online (AJOL)

    Log in or Register to get access to full text downloads. ... Abstract. Iodine Deficiency Disorders (IDD) has continued to be of significant health problem in some communities despite universal salt iodization (USI). There is therefore a need to investigate several other factors beside iodine intake that could likely contribute to the ...

  5. [Control of iron deficiency in developing countries].

    Science.gov (United States)

    Berger, Jacques; Dillon, Jean-Claude

    2002-01-01

    Iron deficiency is the most prevalent nutritional disorder worldwide, especially in developing countries. It occurs when iron absorption cannot compensate iron requirements and losses. Requirements are especially high in pregnant women, infants, young children and adolescents who run a higher risk of being iron-deficient. In developing countries, the main cause of iron deficiency is the low iron bioavailability of the diet. The consequences of iron deficiency are many and serious, affecting not only individuals' health but also the development of societies and countries. The prevention and the control of iron deficiency and anemia in all groups of a population with different iron requirements imply to coordinate different interventions. Iron fortification of staple foods or condiments directed to the whole population is a sustainable and low cost-effective approach. However, at some periods of life, especially during pregnancy and in children from the age of 6 months, iron requirements are high. For pregnant women, the current approach favours the daily iron-folate supplementation during pregnancy but the results in terms of public health are disappointing. The preventive weekly iron-folate supplementation of women during their reproductive life, whose efficacy is recognized, offers a promising alternative; its impact in terms of public health is under current evaluation. For infants and young children, iron fortification of complementary food is effective but this food is generally imported and economically inaccessible to populations with limited resources. The production, by small private units from local products, of complementary foods of low viscosity, good nutritional quality, fortified with vitamins and minerals, and of low cost is at hand in several countries. When complementary foods are not available, the preventive iron supplementation from 6 to 18 months of age has to be advised. This approach should be strengthened by the advantages of the weekly

  6. RETROSPECTIVE ANALYSIS OF DYSHORMONGENETIC GOITRE

    Directory of Open Access Journals (Sweden)

    Chandrasekaran Maharajan

    2012-08-01

    Full Text Available Dyshormonogenetic goitre is a rare thyroid entity which occurs due to enzymatic deficiency in the physiological process of thyroxin synthesis resulting in goitre formation. This has to be differentiated from iodine deficiency goitres for their similarity in clinical presentation, hormonal profile and on scintigraphy studies. This differentiation is vital for the reason that Dyshormonogenetic goitre (DHGG needs to be treated with thyroxin while Iodine deficiency disorder (IDD requires simple dietary iodine supplementation.

  7. [Vitamin deficiencies and hypervitaminosis].

    Science.gov (United States)

    Mino, M

    1999-10-01

    There have recently been very few deficiencies with respect to fat soluble and water soluble vitamins in Japan All-trans-retinoic acid as induction or maintenance treatment improves disease free and overall survival against acute promyelocytic leukemia. In the isolated vitamin E deficiencies gene mutation has been cleared for alpha-tocopherol transferprotein. Recently, a relation of nutritional vitamin K intake and senile osteoporosis in women was epidemiologically demonstrated on a prospective study. Thiamin was yet noticed as development of deficiency in alcoholism, while the importance of supplemental folic acid during pregnancy has become especially clear in light of studies showing that folic acid supplements reduce the risk of neural tube defects in the fetus. With respect to hypervitaminosis, the Council for Responsible Nutrition (CRN), USA, has established safe intakes by identifying the NOAEL (No Observed Adverse Effect Level) and LOAEL (Lowest Observed Adverse Effect Level). Summaries of NOAEL and LOAEL for individual vitamins were shown.

  8. Antepartum Ornithine Transcarbamylase Deficiency

    Directory of Open Access Journals (Sweden)

    Hitoshi Nakajima

    2014-11-01

    Full Text Available Ornithine transcarbamylase deficiency (OTCD is the most common type urea cycle enzyme deficiencies. This syndrome results from a deficiency of the mitochondrial enzyme ornithine transcarbamylase, which catalyzes the conversion of ornithine and carbamoyl phosphate to citrullin. Our case was a 28-year-old female diagnosed with OTCD following neurocognitive deficit during her first pregnancy. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. Plasma amino acid and urine organic acid analysis revealed OTCD. After combined modality treatment with arginine, sodium benzoate and hemodialysis, the patient's plasma ammonia level stabilized and her mental status returned to normal. At last she recovered without any damage left.

  9. Mortality and GH deficiency

    DEFF Research Database (Denmark)

    Stochholm, Kirstine; Gravholt, Claus Højbjerg; Laursen, Torben;

    2007-01-01

    OBJECTIVE: To estimate the mortality in Denmark in patients suffering from GH deficiency (GHD). DESIGN: Mortality was analyzed in 1794 GHD patients and 8014 controls matched on age and gender. All records in GHD patients were studied and additional morbidity noted. Patients were divided into chil......OBJECTIVE: To estimate the mortality in Denmark in patients suffering from GH deficiency (GHD). DESIGN: Mortality was analyzed in 1794 GHD patients and 8014 controls matched on age and gender. All records in GHD patients were studied and additional morbidity noted. Patients were divided...

  10. Tongue Disorders

    Science.gov (United States)

    ... Fundamentals Heart and Blood Vessel Disorders Hormonal and Metabolic Disorders Immune Disorders Infections Injuries and Poisoning Kidney and ... Fundamentals Heart and Blood Vessel Disorders Hormonal and Metabolic Disorders Immune Disorders Infections Injuries and Poisoning Kidney and ...

  11. Mental Disorders

    Science.gov (United States)

    Mental disorders include a wide range of problems, including Anxiety disorders, including panic disorder, obsessive-compulsive disorder, post- ... disorders, including schizophrenia There are many causes of mental disorders. Your genes and family history may play a ...

  12. Intravenous alpha-1 antitrypsin augmentation therapy for treating patients with alpha-1 antitrypsin deficiency and lung disease

    DEFF Research Database (Denmark)

    Gøtzsche, Peter C; Johansen, Helle Krogh

    2010-01-01

    Alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung disease. People who smoke are more seriously affected and have a greater risk of dying from the disease.......Alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung disease. People who smoke are more seriously affected and have a greater risk of dying from the disease....

  13. [Glucose transporter type 1 (GLUT-1) deficiency].

    Science.gov (United States)

    Cano, A; Ticus, I; Chabrol, B

    2008-11-01

    Impaired glucose transport across the blood brain barrier results in glucose transporter type 1 (GLUT-1) deficiency syndrome, first described in 1991. It is characterized by infantile seizures refractory to anticonvulsive treatments, microcephaly, delays in mental and motor development, spasticity, ataxia, dysarthria and other paroxysmal neurologic phenomena, often occurring prior to meals. Affected infants are normal at birth following an uneventful pregnancy and delivery. Seizures usually begin between the age of one and four months and can be preceded by apneic episodes or abnormal eyes movements. Patients with atypical presentations such as mental retardation and intermittent ataxia without seizures, or movement disorders characterized by choreoathetosis and dystonia, have also been described. Glucose is the principal fuel source for the brain and GLUT-1 is the only vehicle by which glucose enters the brain. In case of GLUT-1 deficiency, the risk of clinical manifestations is increased in infancy and childhood, when the brain glucose demand is maximal. The hallmark of the disease is a low glucose concentration in the cerebrospinal fluid in a presence of normoglycemia (cerebrospinal fluid/blood glucose ratio less than 0.4). The GLUT-1 defect can be confirmed by molecular analysis of the SCL2A1 gene or in erythrocytes by glucose uptake studies and GLUT-1 immunoreactivity. Several heterozygous mutations, with a majority of de novo mutations, resulting in GLUT-1 haploinsufficiency, have been described. Cases with an autosomal dominant transmission have been established and adults can exhibit symptoms of this deficiency. Ketogenic diet is an effective treatment of epileptic manifestations as ketone bodies serve as an alternative fuel for the developing brain. However, this diet is not effective on cognitive impairment and other treatments are being evaluated. The physiopathology of this disorder is partially unclear and its understanding could explain the clinical

  14. MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis

    Science.gov (United States)

    2017-10-04

    Mucopolysaccharidosis Disorders; Hurler Syndrome; Hunter Syndrome; Maroteaux Lamy Syndrome; Sly Syndrome; Alpha-Mannosidosis; Fucosidosis; Aspartylglucosaminuria; Glycoprotein Metabolic Disorders; Sphingolipidoses; Recessive Leukodystrophies; Globoid Cell Leukodystrophy; Metachromatic Leukodystrophy; Niemann-Pick B; Niemann-Pick C Subtype 2; Sphingomyelin Deficiency; Peroxisomal Disorders; Adrenoleukodystrophy With Cerebral Involvement; Zellweger Syndrome; Neonatal Adrenoleukodystrophy; Infantile Refsum Disease; Acyl-CoA Oxidase Deficiency; D-Bifunctional Enzyme Deficiency; Multifunctional Enzyme Deficiency; Alpha-methylacyl-CoA Racmase Deficiency; Mitochondrial Neurogastrointestingal Encephalopathy; Severe Osteopetrosis; Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation); Inherited Metabolic Disorders

  15. Cobalamin Deficiency: Clinical Picture and Radiological Findings

    Directory of Open Access Journals (Sweden)

    Chiara Briani

    2013-11-01

    Full Text Available Vitamin B12 deficiency causes a wide range of hematological, gastrointestinal, psychiatric and neurological disorders. Hematological presentation of cobalamin deficiency ranges from the incidental increase of mean corpuscular volume and neutrophil hypersegmentation to symptoms due to severe anemia, such as angor, dyspnea on exertion, fatigue or symptoms related to congestive heart failure, such as ankle edema, orthopnea and nocturia. Neuropsychiatric symptoms may precede hematologic signs and are represented by myelopathy, neuropathy, dementia and, less often, optic nerve atrophy. The spinal cord manifestation, subacute combined degeneration (SCD, is characterized by symmetric dysesthesia, disturbance of position sense and spastic paraparesis or tetraparesis. The most consistent MRI finding is a symmetrical abnormally increased T2 signal intensity confined to posterior or posterior and lateral columns in the cervical and thoracic spinal cord. Isolated peripheral neuropathy is less frequent, but likely overlooked. Vitamin B12 deficiency has been correlated negatively with cognitive functioning in healthy elderly subjects. Symptoms include slow mentation, memory impairment, attention deficits and dementia. Optic neuropathy occurs occasionally in adult patient. It is characterized by symmetric, painless and progressive visual loss. Parenteral replacement therapy should be started soon after the vitamin deficiency has been established.

  16. Faktor-faktor yang berhubungan dengan kejadian GAKY pada anak sekolah dasar di pinggiran pantai Kota Palu Provinsi Sulawesi Tengah

    Directory of Open Access Journals (Sweden)

    Normawaty Patuti

    2010-07-01

    Full Text Available Background: Iodine deficiency disorder (IDD is one of serious health problems considering that it has great impact to survival and quality of human resources. The core problem of IDD is initially caused by lack of iodine in water and soil, then heightened by goitrogenic substances in the food consumed, more pollutants as side effects of industrial waste, the blocking agent which naturally exists in water and soil in the surrounding dwelling places. Objective: The study aimed to identify factors affecting the prevalence of IDD among elementary school children at coastal region. Method: The study was analytic observational with cross sectional design. Population and samples of the study were elementary school children of grade 4-6 proportionally chosen that fulfiled inclusion criteria. Variables observed were consumption pattern, environment (drinking water plumbum, and children’s hemoglobin. Data analysis used computer software at signifiance level p0.05, drinking water plumbum level to the prevalence of IDD (p>0.05. Conclusion: There was signifiant effect of consumption pattern of protein, iodine and hemoglobin level to the prevalence of IDD among elementary school children at coastal region of Palu Municipality. There was no effect of drinking water plumbum level to the prevalence of IDD among elementary school children at coastal region of Palu Municipality.

  17. Health profiles in people with intellectual developmental disorders

    Directory of Open Access Journals (Sweden)

    Anabel Folch-Mas

    2017-07-01

    Full Text Available Objective. To better understand the health profiles of people with intellectual disability (ID, focusing on the variables that are associated with a poorer health status. Materials and methods. Data were collected from the Survey on Disability, Personal Autonomy and Dependency (EDAD 2008 of the Spanish National Statistics Institute (INE. The health data of 2 840 subjects with IDD were analyzed in order to verify the impact of different variables on their health profiles. Results. People with severe and profound levels of IDD presented a higher number of medical diagnoses.At residence centers there was a larger proportion of individuals with a higher prevalence of chronic diseases and more severe conditions; age also was an important factor. Conclusion. The health profiles of individuals with IDD differ depending on the severity level of their IDD and their degree of institutionalization. Further research is needed to provide better health care for people with IDD.

  18. Deregulation of mitochondrial functions provoked by long-chain fatty acid accumulating in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial permeability transition deficiencies in rat heart--mitochondrial permeability transition pore opening as a potential contributing pathomechanism of cardiac alterations in these disorders.

    Science.gov (United States)

    Cecatto, Cristiane; Hickmann, Fernanda H; Rodrigues, Marília D N; Amaral, Alexandre U; Wajner, Moacir

    2015-12-01

    Mitochondrial trifunctional protein and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencies are fatty acid oxidation disorders biochemically characterized by tissue accumulation of long-chain fatty acids and derivatives, including the monocarboxylic long-chain 3-hydroxy fatty acids (LCHFAs) 3-hydroxytetradecanoic acid (3HTA) and 3-hydroxypalmitic acid (3HPA). Patients commonly present severe cardiomyopathy for which the pathogenesis is still poorly established. We investigated the effects of 3HTA and 3HPA, the major metabolites accumulating in these disorders, on important parameters of mitochondrial homeostasis in Ca(2+) -loaded heart mitochondria. 3HTA and 3HPA significantly decreased mitochondrial membrane potential, the matrix NAD(P)H pool and Ca(2+) retention capacity, and also induced mitochondrial swelling. These fatty acids also provoked a marked decrease of ATP production reflecting severe energy dysfunction. Furthermore, 3HTA-induced mitochondrial alterations were completely prevented by the classical mitochondrial permeability transition (mPT) inhibitors cyclosporin A and ADP, as well as by ruthenium red, a Ca(2+) uptake blocker, indicating that LCHFAs induced Ca(2+)-dependent mPT pore opening. Milder effects only achieved at higher doses of LCHFAs were observed in brain mitochondria, implying a higher vulnerability of heart to these fatty acids. By contrast, 3HTA and docosanoic acids did not change mitochondrial homeostasis, indicating selective effects for monocarboxylic LCHFAs. The present data indicate that the major LCHFAs accumulating in mitochondrial trifunctional protein and long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencies induce mPT pore opening, compromising Ca(2+) homeostasis and oxidative phosphorylation more intensely in the heart. It is proposed that these pathomechanisms may contribute at least in part to the severe cardiac alterations characteristic of patients affected by these diseases.

  19. Factor V deficiency

    Science.gov (United States)

    ... When certain blood clotting factors are low or missing, your blood does not clot properly. Factor V deficiency is rare. It may be caused by: A defective Factor V gene passed down through families (inherited) An antibody that interferes with normal Factor ...

  20. Alpha1-antitrypsin deficiency

    DEFF Research Database (Denmark)

    Stolk, Jan; Seersholm, Niels; Kalsheker, Noor

    2006-01-01

    biennially to exchange views and research findings. The fourth biennial meeting was held in Copenhagen, Denmark, on 2-3 June 2005. This review covers the wide range of AAT deficiency-related topics that were addressed encompassing advances in genetic characterization, risk factor identification, clinical...... epidemiology, inflammatory and signalling processes, therapeutic advances, and lung imaging techniques....

  1. MCAD deficiency in Denmark

    DEFF Research Database (Denmark)

    Andresen, Brage Storstein; Lund, Allan Meldgaard; Hougaard, David Michael

    2012-01-01

    Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common defect of fatty acid oxidation. Many countries have introduced newborn screening for MCADD, because characteristic acylcarnitines can easily be identified in filter paper blood spot samples by tandem mass spectrometry (MS...

  2. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... blood transfusions , iron injections, or intravenous iron therapy. Rate This Content: NEXT >> Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented by the National Heart, Lung, and Blood Institute, part of the National ...

  3. Vitamin B12 deficiency

    Science.gov (United States)

    Vitamin B12 (B12; also known as cobalamin) is a B vitamin that has an important role in cellular metabolism, especially in DNA synthesis, methylation and mitochondrial metabolism. Clinical B12 deficiency with classic haematological and neurological manifestations is relatively uncommon. However, sub...

  4. Morbidity and GH deficiency

    DEFF Research Database (Denmark)

    Stochholm, Kirstine; Laursen, Torben; Green, Anders;

    2008-01-01

    OBJECTIVE: To estimate morbidity in Denmark in all patients with GH deficiency (GHD). DESIGN: Morbidity was analyzed in 1794 GHD patients and 8014 controls matched on age and gender. All records in the GHD patients were studied and additional morbidity noted. Diagnoses and dates of admissions were...

  5. Diagnosing oceanic nutrient deficiency

    Science.gov (United States)

    Moore, C. Mark

    2016-11-01

    The supply of a range of nutrient elements to surface waters is an important driver of oceanic production and the subsequent linked cycling of the nutrients and carbon. Relative deficiencies of different nutrients with respect to biological requirements, within both surface and internal water masses, can be both a key indicator and driver of the potential for these nutrients to become limiting for the production of new organic material in the upper ocean. The availability of high-quality, full-depth and global-scale datasets on the concentrations of a wide range of both macro- and micro-nutrients produced through the international GEOTRACES programme provides the potential for estimation of multi-element deficiencies at unprecedented scales. Resultant coherent large-scale patterns in diagnosed deficiency can be linked to the interacting physical-chemical-biological processes which drive upper ocean nutrient biogeochemistry. Calculations of ranked deficiencies across multiple elements further highlight important remaining uncertainties in the stoichiometric plasticity of nutrient ratios within oceanic microbial systems and caveats with regards to linkages to upper ocean nutrient limitation. This article is part of the themed issue 'Biological and climatic impacts of ocean trace element chemistry'.

  6. Manganese deficiency in plants

    DEFF Research Database (Denmark)

    Schmidt, Sidsel Birkelund; Jensen, Poul Erik; Husted, Søren

    2016-01-01

    Manganese (Mn) is an essential plant micronutrient with an indispensable function as a catalyst in the oxygen-evolving complex (OEC) of photosystem II (PSII). Even so, Mn deficiency frequently occurs without visual leaf symptoms, thereby masking the distribution and dimension of the problem...

  7. Iron-Deficiency Anemia

    Medline Plus

    Full Text Available ... blood transfusions , iron injections, or intravenous iron therapy. Rate This Content: NEXT >> Featured Video Living With and Managing Iron-Deficiency Anemia 05/18/2011 This video—presented by the National Heart, Lung, and Blood Institute, part of the National ...

  8. A case of maternal vitamin K deficiency associated with hyperemesis gravidarum: its potential impact on fetal blood coagulability.

    Science.gov (United States)

    Shigemi, Daisuke; Nakanishi, Kazuho; Miyazaki, Miwa; Shibata, Yoshie; Suzuki, Shunji

    2015-01-01

    Vitamin K deficiency is associated with malnutrition in some complications, such as hyperemesis gravidarum, active gastrointestinal diseases, and psychological disorders. Maternal vitamin K deficiency can cause fetal bleeding, in particular, fetal intracranial hemorrhage. Although fetal hemorrhage is uncommon, severe damage to the fetus may be inevitable. We describe a pregnant woman with vitamin K deficiency possibly due to hyperemesis gravidarum. The patient was treated for the deficiency, and no fetal or neonatal hemorrhagic diseases were manifested.

  9. [Prevention of iron deficiency and iron deficiency anemia in tropical areas].

    Science.gov (United States)

    Dillon, J C

    2000-01-01

    Iron deficiency is the most widespread nutritional disease in the World. It is prevalent in tropical areas especially in pregnant women and children. The main cause in these areas is consumption of foods containing inhibitors of iron absorption resulting in insufficient bioavailability. In advanced stages of iron deficiency, low hemoglobin levels lead to anemia. Functional consequences of anemia depend on age including mental and physical retardation in children and work disability in adults. Although other disorders including parasitic, infectious, genetic, and nutritional diseases may be involved in anemia in tropical areas, iron deficiency is always a factor because of nutritional conditions. The WHO has proposed laboratory criteria for use in establishing the incidence of iron deficiency and related anemia in a given population. Based on several surveys, four preventive strategies have been developed, i.e., dietary diversification, iron supplementation, general public health measures, and food fortification. Each of these strategies has advantages and disadvantages. The prevailing consensus is that coordinated use of these approaches holds forth the only hope of impacting the incidence of iron-deficiency anemia in tropical regions.

  10. Atypical Manifestations in Glut1 Deficiency Syndrome.

    Science.gov (United States)

    De Giorgis, V; Varesio, C; Baldassari, C; Piazza, E; Olivotto, S; Macasaet, J; Balottin, U; Veggiotti, P

    2016-08-01

    Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that is caused by an insufficient transport of glucose into the brain. It is caused by a mutation in the SCL2A1 gene, which is so far the only known to be associated with this condition. Glucose transporter type 1 deficiency syndrome consists of a wide clinical spectrum that usually presents with cognitive impairment, epilepsy, paroxysmal exercise-induced dyskinesia, acquired microcephaly, hemolytic anemia, gait disturbance, and dyspraxia in different combinations. However, there are other clinical manifestations that we consider equally peculiar but that have so far been poorly described in literature. In this review, supported by a video contribution, we will accurately describe this type of clinical manifestation such as oculogyric crises, weakness, paroxysmal kinesigenic and nonkinesigenic dyskinesia in order to provide an additional instrument for a correct, rapid diagnosis. © The Author(s) 2016.

  11. Genetics Home Reference: carbonic anhydrase VA deficiency

    Science.gov (United States)

    ... hyperammonemia due to carbonic anhydrase VA deficiency hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency mitochondrial carbonic anhydrase va deficiency Related Information How are ...

  12. Combating iodine deficiency: lessons from China, Indonesia, and Madagascar.

    Science.gov (United States)

    Goh, Chor-ching

    2002-09-01

    This study investigated the factors contributing to a successful and sustainable elimination of iodine-deficiency disorders, drawing from salt fortification experiences in China, Indonesia, and Madagascar. Government officials, salt farmers, salt producers, and wholesalers were interviewed to collect data during field visits. Analyses used in the study include simple correlation, and wherever data permit, regression. The study found that measures crucial for combating iodine deficiency include raising public awareness of the disorders, ensuring easy access to iodated salt, promoting compliance in the salt industry, and monitoring and enforcement. Factors that ensure a reliable supply of iodated salt are equally important as those that create the demand for it. Governments must ensure that surveillance and enforcement mechanisms are functioning right from the time that salt iodation is made compulsory. For sustainability during later years, the adequacy of iodine in iodated salt must be monitored, and incentives must be modified as needed to increase compliance rates in the salt industry. Once national coverage of iodated salt reaches over 90%, the government can concentrate on fine-tuning and targeting resources at areas with a low consumption of iodated salt. Elimination of micronutrient deficiencies has a long-term impact on public health; moreover, poorer segments of the population, who are more vulnerable to such deficiencies, have more to gain from fortification programs. Thus, lessons from the successful elimination of iodine-deficiency disorders are valuable for future similar micronutrient activities.

  13. Augmented cell death with Bloom syndrome helicase deficiency.

    Science.gov (United States)

    Kaneko, Hideo; Fukao, Toshiyuki; Kasahara, Kimiko; Yamada, Taketo; Kondo, Naomi

    2011-01-01

    Bloom syndrome (BS) is a rare autosomal genetic disorder characterized by lupus-like erythematous telangi-ectasias of the face, sun sensitivity, infertility, stunted growth, upper respiratory infection, and gastrointestinal infections commonly associated with decreased immuno-globulin levels. The syndrome is associated with immuno-deficiency of a generalized type, ranging from mild and essentially asympto-matic to severe. Chromosomal abnormalities are hallmarks of the disorder, and high frequencies of sister chromatid exchanges and quadriradial configurations in lymphocytes and fibroblasts are diagnostic features. BS is caused by mutations in BLM, a member of the RecQ helicase family. We determined whether BLM deficiency has any effects on cell growth and death in BLM-deficient cells and mice. BLM-deficient EB-virus-transformed cell lines from BS patients and embryonic fibroblasts from BLM-/- mice showed slower growth than wild-type cells. BLM-deficient cells showed abnormal p53 protein expression after irradiation. In BLM-/- mice, small body size, reduced number of fetal liver cells and increased cell death were observed. BLM deficiency causes the up-regulation of p53, double-strand break and apoptosis, which are likely observed in irradiated control cells. Slow cell growth and increased cell death may be one of the causes of the small body size associated with BS patients.

  14. Glucose-6-phosphate dehydrogenase deficiency

    Science.gov (United States)

    ... medlineplus.gov/ency/article/000528.htm Glucose-6-phosphate dehydrogenase deficiency To use the sharing features on this page, please enable JavaScript. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a condition in which ...

  15. Cobalamin deficiency, hyperhomocysteinemia, and dementia

    National Research Council Canada - National Science Library

    Werder, Steven F

    2010-01-01

    ...) What is to be expected from treatment? (7) How is B12 deficiency treated? On January 31st, 2009, a Medline search was performed revealing 1,627 citations related to cobalamin deficiency, hyperhomocysteinemia, and dementia...

  16. The Comorbidity between Attention-Deficit/Hyperactivity Disorder (ADHD) in Children and Arabic Speech Sound Disorder

    Science.gov (United States)

    Hariri, Ruaa Osama

    2016-01-01

    Children with Attention-Deficiency/Hyperactive Disorder (ADHD) often have co-existing learning disabilities and developmental weaknesses or delays in some areas including speech (Rief, 2005). Seeing that phonological disorders include articulation errors and other forms of speech disorders, studies pertaining to children with ADHD symptoms who…

  17. Deficiência de ferro na adolescência Iron deficiency in adolescence

    Directory of Open Access Journals (Sweden)

    Marlene P. Garanito

    2010-06-01

    Full Text Available A deficiência de ferro é o distúrbio nutricional mais comum no mundo e constitui a maior causa de anemia associada às condições onde há erro alimentar, perda crônica de sangue ou quando ocorre o crescimento rápido, como na infância, na gravidez e na adolescência. Esta deficiência acarreta prejuízos no desenvolvimento neuropsicomotor, na capacidade de aprendizagem, no apetite, no crescimento e na resposta do sistema imunológico. Na adolescência, além de com frequência observarmos hábitos alimentares inadequados, estão presentes intensas mudanças fisiológicas e psicossociais que, em associação, podem comprometer o crescimento e aumentar o risco do desenvolvimento de deficiência de ferro e outras carências nutricionais, sobretudo na fase púbere. Desta forma, o diagnóstico de deficiência de ferro entre os adolescentes deve ser lembrado a fim de que medidas possam ser tomadas para diminuir a incidência de anemia, do comprometimento do rendimento escolar e do sistema imunológico, neste período da vida.Iron deficiency is the most common nutritional disorder in the world and is a major cause of anemia associated with situations involving chronic blood loss or rapid growth such as during infancy, pregnancy and adolescence. This deficiency leads to impairment in psychomotor development, learning ability, appetite, growth and immune response. In adolescence, inadequate dietary habits are often observed and intensive physiological and psychological changes are seen that when combined can impair growth and increase the risk of developing iron deficiency or other nutritional disorders, especially during puberty. Thus, the diagnosis of iron deficiency among adolescents should always be considered so that measures can be taken to reduce the incidence of anemia, impairment of the immune system and improve school performance.

  18. Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.

    LENUS (Irish Health Repository)

    Sahakitrungruang, Taninee

    2009-12-01

    P450 oxidoreductase (POR) deficiency causes disordered steroidogenesis; severe mutations cause genital ambiguity in both sexes plus the Antley-Bixler skeletal malformation syndrome, whereas mild mutations can cause adult infertility.

  19. Mitochondrial neurogastrointestinal encephalomyopathy caused by thymidine phosphorylase enzyme deficiency: From pathogenesis to emerging therapeutic options

    NARCIS (Netherlands)

    R. Yadak (Rana); P.S. Smitt; M.W. van Gisbergen; N.P. van Til (Niek); I.F.M. de Coo (René)

    2017-01-01

    textabstractMitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a progressive metabolic disorder caused by thymidine phosphorylase (TP) enzyme deficiency. The lack of TP results in systemic accumulation of deoxyribonucleosides thymidine (dThd) and deoxyuridine (dUrd). In these patients,

  20. Growth Hormone Deficiency in Children

    Science.gov (United States)

    Fact Sheet Growth Defici H e o n r c m y one in Children What is growth hormone deficiency? Growth hormone deficiency (GHD) is a rare condition in which the body does not make enough growth hormone (GH). GH is made by the pituitary ...

  1. Iron deficiency and cognitive functions

    Directory of Open Access Journals (Sweden)

    Jáuregui-Lobera I

    2014-11-01

    Full Text Available Ignacio Jáuregui-Lobera Department of Nutrition and Bromatology, Pablo de Olavide University, Seville, Spain Abstract: Micronutrient deficiencies, especially those related to iodine and iron, are linked to different cognitive impairments, as well as to potential long-term behavioral changes. Among the cognitive impairments caused by iron deficiency, those referring to attention span, intelligence, and sensory perception functions are mainly cited, as well as those associated with emotions and behavior, often directly related to the presence of iron deficiency anemia. In addition, iron deficiency without anemia may cause cognitive disturbances. At present, the prevalence of iron deficiency and iron deficiency anemia is 2%–6% among European children. Given the importance of iron deficiency relative to proper cognitive development and the alterations that can persist through adulthood as a result of this deficiency, the objective of this study was to review the current state of knowledge about this health problem. The relevance of iron deficiency and iron deficiency anemia, the distinction between the cognitive consequences of iron deficiency and those affecting specifically cognitive development, and the debate about the utility of iron supplements are the most relevant and controversial topics. Despite there being methodological differences among studies, there is some evidence that iron supplementation improves cognitive functions. Nevertheless, this must be confirmed by means of adequate follow-up studies among different groups. Keywords: iron deficiency, anemia, cognitive functions, supplementation

  2. Iron Deficiency's Long-Term Effects: An Interview with Pediatrician Betsy Lozoff

    Science.gov (United States)

    National Scientific Council on the Developing Child, 2006

    2006-01-01

    Betsy Lozoff is among the world's leading experts on iron deficiency and its effects on infant brain development and behavior. Iron deficiency is the most common single nutrient disorder in the world, affecting more than half of the world's infants and young children. Research by Lozoff and others has shown that there are long-lasting…

  3. Prevention of Iron-Deficiency Anemia in Infants and Children of Preschool Age.

    Science.gov (United States)

    Fomon, Samuel J.

    Iron-deficiency anemia is almost certainly the most prevalent nutritional disorder among infants and young children in the United States. Anemia is frequently seen among children of low socioeconomic status but is probably also the most frequent nutritional deficiency disease seen among children cared for by private doctors. Possible reasons for…

  4. Situation of Iron Deficiency and Its Management Prioritizing Dietary Intervention in Nepal

    DEFF Research Database (Denmark)

    Adhikari, BK; Koirala, U; Lama, STA

    2012-01-01

    Background Control of iron deficiency disorders is prioritized in the nutrition policies of Nepal. The situation is still threatening the public health in both rural and urban areas. Objective There are limited reviews on the iron deficiency situation in Nepal. This study was undertaken to find o...

  5. Hepcidin in obese children as a potential mediator of the association between obesity and iron deficiency.

    NARCIS (Netherlands)

    Giudice, E. Del; Santoro, N.; Amato, A.; Brienza, C.; Calabro, P.; Wiegerinck, E.T.G.; Cirillo, G.; Tartaglione, N.; Grandone, A.; Swinkels, D.W.; Perrone, L.

    2009-01-01

    CONTEXT: Obesity and iron deficiency are two of the most common nutritional disorders worldwide. Several studies found higher rates of iron deficiency in obese than in normal-weight children. Hepcidin represents the main inhibitor of intestinal iron absorption, and its expression is increased in adi

  6. Gynaecological and obstetrical bleeding in women with factor XI deficiency - a systematic review

    NARCIS (Netherlands)

    Wiewel-Verschueren, S.; Arendz, I. J.; Knol, H. M.; Meijer, Karina

    Menstrual bleeding, pregnancy and delivery present an intrinsic haemostatic challenge to women with bleeding disorders such as factor XI (FXI) deficiency. Aim: To provide a systematic overview of studies on gynaecological and obstetrical bleeding problems in women with FXI deficiency. Methods: We

  7. Hepcidin in obese children as a potential mediator of the association between obesity and iron deficiency.

    NARCIS (Netherlands)

    Giudice, E. Del; Santoro, N.; Amato, A.; Brienza, C.; Calabro, P.; Wiegerinck, E.T.G.; Cirillo, G.; Tartaglione, N.; Grandone, A.; Swinkels, D.W.; Perrone, L.

    2009-01-01

    CONTEXT: Obesity and iron deficiency are two of the most common nutritional disorders worldwide. Several studies found higher rates of iron deficiency in obese than in normal-weight children. Hepcidin represents the main inhibitor of intestinal iron absorption, and its expression is increased in

  8. Medium-chain acyl-CoA dehydrogenase deficiency

    DEFF Research Database (Denmark)

    Waddell, Leigh; Wiley, Veronica; Carpenter, Kevin

    2006-01-01

    The fatty acid oxidation disorder most commonly identified by tandem mass spectrometry newborn screening is the potentially fatal medium-chain acyl-CoA dehydrogenase deficiency (MCAD). In clinically presenting cases, 80% are homozygous for the common mutation, c.985A > G and 18% heterozygous. We ...

  9. Iron deficiency in plants: An insight from proteomic approaches

    Science.gov (United States)

    Iron (Fe) deficiency chlorosis is a major nutritional disorder for crops growing in calcareous soils, and causes decreases in vegetative growth as well as marked yield and quality losses. With the advances in mass spectrometry techniques, a substantial body of knowledge has arisen on the changes in ...

  10. PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.

    NARCIS (Netherlands)

    Khayat, M.; Korman, S.H.; Frankel, P.; Weintraub, Z.; Hershckowitz, S.; Sheffer, V.F.; Elisha, M. Ben; Wevers, R.A.; Falik-Zaccai, T.C.

    2008-01-01

    The rare autosomal recessive disorder pyridoxine 5'-phosphate oxidase (PNPO) deficiency is a recently described cause of neonatal and infantile seizures. Clinical evaluation, and biochemical and genetic testing, were performed on a neonate with intractable seizures who did not respond to anticonvuls

  11. GLUT-1 deficiency without epilepsy - an exceptional case

    NARCIS (Netherlands)

    Overweg-Plandsoen, WCG; Groener, JEM; Onkenhout, W; Brouwer, OF; Bakker, HD; De Vivo, DC

    2003-01-01

    The GLUT-1 deficiency is a metabolic disorder caused by a defect in glucose transport across the blood-brain barrier as a result of a defect in the glucose-transport protein. Patients present with epileptic seizures, delayed development, ataxia and hypotonia, and in many cases acquired microcephaly.

  12. Immune Gamma Globulin Therapeutic Indications in Immune Deficiency and Autoimmunity.

    Science.gov (United States)

    Yang, Luanna; Wu, Eveline Y; Tarrant, Teresa K

    2016-07-01

    Immune gamma globulin (IgG) has a long history in the treatment of both primary immune deficiency and autoimmune disorders. Disease indications continue to expand and new-generation products increase the versatility of delivery. This review encompasses a historical perspective as well as current and future implications of human immune globulin for the treatment of immune-mediated illness.

  13. PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.

    NARCIS (Netherlands)

    Khayat, M.; Korman, S.H.; Frankel, P.; Weintraub, Z.; Hershckowitz, S.; Sheffer, V.F.; Elisha, M. Ben; Wevers, R.A.; Falik-Zaccai, T.C.

    2008-01-01

    The rare autosomal recessive disorder pyridoxine 5'-phosphate oxidase (PNPO) deficiency is a recently described cause of neonatal and infantile seizures. Clinical evaluation, and biochemical and genetic testing, were performed on a neonate with intractable seizures who did not respond to

  14. GLUT-1 deficiency without epilepsy - an exceptional case

    NARCIS (Netherlands)

    Overweg-Plandsoen, WCG; Groener, JEM; Onkenhout, W; Brouwer, OF; Bakker, HD; De Vivo, DC

    2003-01-01

    The GLUT-1 deficiency is a metabolic disorder caused by a defect in glucose transport across the blood-brain barrier as a result of a defect in the glucose-transport protein. Patients present with epileptic seizures, delayed development, ataxia and hypotonia, and in many cases acquired microcephaly.

  15. Iodine deficiency and functional performance of schoolchildren in Benin

    NARCIS (Netherlands)

    Briel-van Ingen, van den T.

    2001-01-01

    The notion that iodine deficiency may lead not only to goiter and cretinism, but to a much wider range of disorders, from stillbirth and abortions, to hearing problems and mental and physical underdevelopment began to be accepted beyond the research community since the early 1980's. In 1990 it was e

  16. Sepiapterin reductase deficiency : A Treatable Mimic of Cerebral Palsy

    NARCIS (Netherlands)

    Friedman, Jennifer; Roze, Emmanuel; Abdenur, Jose E.; Chang, Richard; Gasperini, Serena; Saletti, Veronica; Wali, Gurusidheshwar M.; Eiroa, Hernan; Neville, Brian; Felice, Alex; Parascandalo, Ray; Zafeiriou, Dimitrios I.; Arrabal-Fernandez, Luisa; Dill, Patricia; Eichler, Florian S.; Echenne, Bernard; Gutierrez-Solana, Luis G.; Hoffmann, Georg F.; Hyland, Keith; Kusmierska, Katarzyna; Tijssen, Marina A. J.; Lutz, Thomas; Mazzuca, Michel; Penzien, Johann; Bwee Tien Poll-The, [No Value; Sykut-Cegielska, Jolanta; Szymanska, Krystyna; Thoeny, Beat; Blau, Nenad

    2012-01-01

    Objective: Sepiapterin reductase deficiency (SRD) is an under-recognized levodopa-responsive disorder. We describe clinical, biochemical, and molecular findings in a cohort of patients with this treatable condition. We aim to improve awareness of the phenotype and available diagnostic and therapeuti

  17. Iodine deficiency and functional performance of schoolchildren in Benin

    NARCIS (Netherlands)

    Briel-van Ingen, van den T.

    2001-01-01

    The notion that iodine deficiency may lead not only to goiter and cretinism, but to a much wider range of disorders, from stillbirth and abortions, to hearing problems and mental and physical underdevelopment began to be accepted beyond the research community since the early 1980's. In 1990 it was e

  18. Generalized verrucosis in a patient with GATA2 deficiency.

    Science.gov (United States)

    West, E S; Kingsbery, M Y; Mintz, E M; Hsu, A P; Holland, S M; Rady, P L; Tyring, S K; Grossman, M E

    2014-05-01

    Generalized verrucosis is a characteristic of several genetic and immunodeficiency disorders including epidermodysplasia verruciformis; warts, hypogammaglobulinaemia, infections and myelokathexis (WHIM) syndrome; warts, immunodeficiency, lymphoedema and anogenital dysplasia (WILD) syndrome; severe combined immune deficiency and HIV, among others. In recent years, it has been consistently recognized in patients with GATA2 deficiency, a novel immunodeficiency syndrome characterized by monocytopenia, B-cell and natural killer-cell lymphopenia, and a tendency to develop myeloid leukaemias and disseminated mycobacterial, human papillomavirus (HPV) and opportunistic fungal infections. Mutations in GATA2 cause haploinsufficiency and track in families as an autosomal dominant immunodeficiency. GATA2 is a transcription factor involved in early haematopoietic differentiation and lymphatic and vascular development. We describe a case of generalized verrucosis with HPV type 57 presenting in a young man with GATA2 deficiency. GATA2 deficiency is a novel dominant immunodeficiency that is often recognized later in life and should be considered in the differential diagnosis of patients with generalized verrucosis.

  19. Transcobalamin II Deficiency in Four Cases with Novel Mutations

    Directory of Open Access Journals (Sweden)

    Sule Unal

    2015-12-01

    Full Text Available INTRODUCTION: Transcobalamin II deficiency is one of the rare causes of inherited vitamin B12 disorders in which the patients have characteristically normal or high vitamin B12 levels related to the transport defect of vitamin B12 into the cell, ending up with intracellular cobalamin depletion and high homocysteine and methylmalonic acid levels. METHODS: Herein, we describe the findings at presentation of four patients who were diagnosed to have transcobalamin II deficiency with novel mutations. RESULTS: These patients with transcobalamin II deficiency were found to have novel mutations, of whom 2 had the same large deletion (homozygous c.1106+1516-1222+1231del. DISCUSSION AND CONCLUSION: Transcobalamin II deficiency should be considered in differential diagnosis of any infant with pancytopenia, failure to thrive, diarrhea, and vomiting.

  20. Isolated sulfite oxidase deficiency.

    Science.gov (United States)

    Relinque, B; Bardallo, L; Granero, M; Jiménez, P J; Luna, S

    2015-03-10

    Sulfite oxidase deficiency is an uncommon metabolic disease. Only few cases of its isolated form have been reported in the literature. We report a case of severe neonatal onset. A newborn baby of 41 weeks gestational age, weighted at birth of 3240 grams and had an Apgar score of 6-10-10. Fifty-three hours after being born, the baby started with seizures that were refractory to antiepileptic treatment. Brain function was monitored using a-EEG. Laboratory and imaging tests were performed. All of them were consistent with sulfite oxidase deficiency. The diagnosis was confirmed by genetic testing. We highlight the importance of this disease as part of the differential diagnosis of seizures during the neonatal period, as well as the importance of the therapeutic support based on dietary restrictions. It's also remarkable the possibility of prenatal diagnosis by quantifying enzyme activity and it's also possible carrying out DNA mutational analysis.

  1. Micronutrient deficiency in children.

    Science.gov (United States)

    Bhan, M K; Sommerfelt, H; Strand, T

    2001-05-01

    Malnutrition increases morbidity and mortality and affects physical growth and development, some of these effects resulting from specific micronutrient deficiencies. While public health efforts must be targeted to improve dietary intakes in children through breast feeding and appropriate complementary feeding, there is a need for additional measures to increase the intake of certain micronutrients. Food-based approaches are regarded as the long-term strategy for improving nutrition, but for certain micronutrients, supplementation, be it to the general population or to high risk groups or as an adjunct to treatment must also be considered. Our understanding of the prevalence and consequences of iron, vitamin A and iodine deficiency in children and pregnant women has advanced considerably while there is still a need to generate more knowledge pertaining to many other micronutrients, including zinc, selenium and many of the B-vitamins. For iron and vitamin A, the challenge is to improve the delivery to target populations. For disease prevention and growth promotion, the need to deliver safe but effective amounts of micronutrients such as zinc to children and women of fertile age can be determined only after data on deficiency prevalence becomes available and the studies on mortality reduction following supplementation are completed. Individual or multiple micronutrients must be used as an adjunct to treatment of common infectious diseases and malnutrition only if the gains are substantial and the safety window sufficiently wide. The available data for zinc are promising with regard to the prevention of diarrhea and pneumonia. It should be emphasized that there must be no displacement of important treatment such as ORS in acute diarrhea by adjunct therapy such as zinc. Credible policy making requires description of not only the clinical effects but also the underlying biological mechanisms. As findings of experimental studies are not always feasible to extrapolate to

  2. The evaluation of iron deficiency and anemia in male blood donors with other related factors

    Directory of Open Access Journals (Sweden)

    Yousefinejad Vahid

    2010-01-01

    Full Text Available Aims and Background: Iron deficiency is one of the most common nutritional disorders worldwide and blood donation may cause iron depletion. Limited studies with large sample size have been done on male donors. The aim of this study is to determine the prevalence of iron deficiency and iron deficiency anemia among male donors in the Kurdistan Organization of Blood Transfusion in Iran. Materials and Methods: This was a cross-sectional study. Sample size was 1184 blood donors selected by systematic random sampling. Hemoglobin, serum iron, serum ferritin, total iron banding capacity (TIBC and transferin saturation were measured in donors. Iron depletion, lack of iron stores, iron deficiency, iron deficiency anemia and anemia were evaluated among them. Data was analyzed with SPSS software and X΂, one-way ANOVA, and LSD test. Results: Iron deficiency, anemia, iron deficiency anemia, iron depletion and lack of iron resources were seen in 2.3, 4.08, 2.14, 22.76 and 4.66 percent respectively. There was a significant relationship of iron deficiency and iron deficiency anemia with instances of donation and interval from last donation (P < 0.05. A significant relationship was seen between iron deficiency and iron deficiency anemia among blood donors with more than ten times blood donation (P < 0.05. Conclusions: This study showed regular male donors require especial attention. Therefore, serum ferritin is recommended as a more adequate index to use for iron deficiency screening and planning purposes for iron supplementation among them.

  3. [Iron deficiency, thrombocytosis and thromboembolism].

    Science.gov (United States)

    Evstatiev, Rayko

    2016-10-01

    Iron deficiency, the most common nutritional deficiency worldwide, is often associated with reactive thrombocytosis. Although secondary thrombocytosis is commonly considered to be harmless, there is accumulating evidence that elevated platelet counts, especially in the setting of iron deficiency, can lead to an increased thromboembolic risk in both arterial and venous systems. Here we present the mechanisms of iron deficiency-induced thrombocytosis and summarize its clinical consequences especially in patients with inflammatory bowel diseases, chronic kidney disease or cancer. We hypothesize that iron deficiency is an underestimated thromboembolic risk factor, and that iron replacement therapy can become an effective preventive strategy in a variety of clinical settings.

  4. Iron-Deficiency Anemia (For Parents)

    Science.gov (United States)

    ... TV, Video Games, and the Internet Iron-Deficiency Anemia KidsHealth > For Parents > Iron-Deficiency Anemia Print A ... common nutritional deficiency in children. About Iron-Deficiency Anemia Every red blood cell in the body contains ...

  5. How Is Iron-Deficiency Anemia Treated?

    Science.gov (United States)

    ... the NHLBI on Twitter. How Is Iron-Deficiency Anemia Treated? Treatment for iron-deficiency anemia will depend ... may be advised. Treatments for Severe Iron-Deficiency Anemia Blood Transfusion If your iron-deficiency anemia is ...

  6. Iron-Deficiency Anemia (For Parents)

    Science.gov (United States)

    ... Your 1- to 2-Year-Old Iron-Deficiency Anemia KidsHealth > For Parents > Iron-Deficiency Anemia A A ... common nutritional deficiency in children. About Iron-Deficiency Anemia Every red blood cell in the body contains ...

  7. [Copper metabolism and genetic disorders].

    Science.gov (United States)

    Shimizu, Norikazu

    2016-07-01

    Copper is one of essential trace elements. Copper deficiency lead to growth and developmental failure and/or neurological dysfunction. However, excess copper is also problems for human life. There are two disorders of inborn error of copper metabolism, Menkes disease and Wilson disease. Menkes disease is an X linked recessive disorder with copper deficiency and Wilson disease is an autosomal recessive disorder with copper accumulation. These both disorders result from the defective functioning of copper transport P-type ATPase, ATP7A of Menkes disease and ATP7B of Wilson disease. In this paper, the author describes about copper metabolism of human, and clinical feature, diagnosis and treatment of Menkes disease and Wilson disease.

  8. Iatrogenic nutritional deficiencies.

    Science.gov (United States)

    Young, R C; Blass, J P

    1982-01-01

    This article catalogs the nutritional deficiencies inadvertently introduced by certain treatment regimens. Specifically, the iatrogenic effects on nutrition of surgery, hemodialysis, irradiation, and drugs are reviewed. Nutritional problems are particularly frequent consequences of surgery on the gastrointestinal tract. Gastric surgery can lead to deficiencies of vitamin B12, folate, iron, and thiamine, as well as to metabolic bone disease. The benefits of small bowel bypass are limited by the potentially severe nutritional consequences of this procedure. Following bypass surgery, patients should be monitored for signs of possible nutritional probems such as weight loss, neuropathy, cardiac arrhythmias, loss of stamina, or changes in mental status. Minimal laboratory tests should include hematologic evaluation, B12, folate, iron, albumin, calcium, phosphorus, alkaline phosphatase, transaminases, sodium, potassium, chloride, and carbon dioxide levels. Roentgenologic examination of the bone should also be obtained. Loss of bone substance is a major consequence of many forms of treatment, and dietary supplementation with calcium is warranted. Patients undergoing hemodialysis have shown carnitine and choline deficiencies, potassium depletion, and hypovitaminosis, as well as osteomalacia. Chronic drug use may alter intake, synthesis, absorption, transport, storage, metabolism, or excretion of nutrients. Patients vary markedly in the metabolic effects of drugs, and recommendations for nutrition must be related to age, sex, reproductive status, and genetic endowment. Moreover, the illness being treated can itself alter nutritional requirements and the effect of the treatment on nutrient status. The changes in nutritional levels induced by use of estrogen-containing oral contraceptives (OCs) are obscure; however, the effects on folate matabolism appear to be of less clinical import than previously suggested. Reduction in pyridoxine and serum vitamin B12 levels has been

  9. Vitamin D/dietary calcium deficiency rickets and pseudo-vitamin D deficiency rickets.

    Science.gov (United States)

    Glorieux, Francis H; Pettifor, John M

    2014-01-01

    This review describes the pathogenesis, clinical presentation and biochemical perturbations found in privational (nutritional) rickets and pseudo-vitamin D deficiency rickets (PDDR), an autosomal recessive condition with loss of function mutations in CYP27B1. It may seem strange to combine a discussion on privational rickets and PDDR as a single topic, but privational rickets and PDDR present with similar clinical signs and symptoms and with similar perturbations in bone and mineral metabolism. Of interest is the characteristic lack of features of rickets at birth in infants with PDDR, a finding which has also been reported in infants born to vitamin D-deficient mothers. This highlights the independence of the fetus and neonate from the need for vitamin D to maintain calcium homeostasis during this period. The variable roles of vitamin D deficiency and dietary calcium deficiency in the pathogenesis of privational rickets are discussed and the associated alterations in vitamin D metabolism highlighted. Although PDDR is a rare autosomal recessive disorder, results of long-term follow-up are now available on the effect of treatment with calcitriol, and these are discussed. Areas of uncertainty, such as should affected mothers breastfeed their infants, are emphasized.

  10. 江阴市居民膳食中碘摄入量和碘缺乏病调查结果分析%Investigation and analysis on iodine intake in dietary and iodine deficiency disorder among the residents in Jiangyin

    Institute of Scientific and Technical Information of China (English)

    缪国忠; 周菊静; 苏国平

    2011-01-01

    Objective To analyze the iodine intake status in dietary of residents in Jiangyin city, and provide basis for iodine deficiency disorder prevention and control. Method Analyzed the monitoring data of iodine, children urine iodine, children goiter during 1995 to 2011, and calculation the iodine intake in dietary by residents dietary pattern. Results The iodine in dietary mainly came from inodized salt, it accounted for 79. 38%. Children and adults iodine intake in dietary were 174. 67μg/d and 353.69μg/d, respectively. Both of them were in the range of China residents dietary nutrients reference intake. The standard - reaching rate of children urine iodine increased from 77.1% in 1995 to 91.7% in 2008 (X2 = 10.94, P < 0.005) . Children goiter rate ( by palpation) at 1995 was 13.06% and reduced to 1.56% at 2008 (x2 - 54.08, P< 0.005) . Conclusions Jiangyin residents'iodine nutritional status improved obviously after adding iodine in salt, and all the index accord with the eliminate standards of iodine deficiency disorder. At last, we suggested to keep on implement the strategy of adding iodine in salt and enhanced the monitoring of iodine deficiency disorder.%目的 分析江阴市居民膳食中碘摄人情况,为碘缺乏病防治提供依据.方法 对1995-2011年期间全市相关的盐碘、儿童尿碘含量、儿童甲状腺肿等监测资料进行分析,并利用居民膳食结构计算膳食中碘的摄入量.结果 江阴市膳食中的碘主要来源于加碘盐,贡献率达79.38%;儿童和成人膳食中碘摄入量分别为174.67μg/d和353.69 μg/d,二者均在中国居民膳食营养素参考摄入量的范围之内;儿童尿碘达标率由1995年的77.1%升至2008年的91.7% (x2= 10.94,P<0.005);儿童甲状腺肿大率(触诊法)由1995年的13.06%降至2008年的1.56%(x2=54.08,P<0.005).结论 江阴市居民食用加碘盐后人群碘营养状况明显改善,各项指标均符合碘缺乏病消除标准,建议我市继续实施

  11. Bipolar disorder

    Science.gov (United States)

    Manic depression; Bipolar affective disorder; Mood disorder - bipolar; Manic depressive disorder ... Fatigue or lack of energy Feelings of worthlessness, hopelessness, or guilt Loss of pleasure in activities once ...

  12. Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.

    Science.gov (United States)

    Waisbren, Susan E; Gropman, Andrea L; Batshaw, Mark L

    2016-07-01

    The Urea Cycle Disorders Consortium (UCDC) has conducted, beginning in 2006, a longitudinal study (LS) of eight enzyme deficiencies/transporter defects associated with the urea cycle. These include N-acetylglutamate synthase deficiency (NAGSD); Carbamyl phosphate synthetase 1 deficiency (CPS1D); Ornithine transcarbamylase deficiency (OTCD); Argininosuccinate synthetase deficiency (ASSD) (Citrullinemia); Argininosuccinate lyase deficiency (ASLD) (Argininosuccinic aciduria); Arginase deficiency (ARGD, Argininemia); Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome (or mitochondrial ornithine transporter 1 deficiency [ORNT1D]); and Citrullinemia type II (mitochondrial aspartate/glutamate carrier deficiency [CITRIN]). There were 678 UCD patients enrolled in 14 sites in the U.S., Canada, and Europe at the writing of this paper. This review summarizes findings of the consortium related to outcome, focusing primarily on neuroimaging findings and neurocognitive function. Neuroimaging studies in late onset OTCD offered evidence that brain injury caused by biochemical dysregulation may impact functional neuroanatomy serving working memory processes, an important component of executive function and regulation. Additionally, there were alteration in white mater microstructure and functional connectivity at rest. Intellectual deficits in OTCD and other urea cycle disorders (UCD) vary. However, when neuropsychological deficits occur, they tend to be more prominent in motor/performance areas on both intelligence tests and other measures. In some disorders, adults performed significantly less well than younger patients. Further longitudinal follow-up will reveal whether this is due to declines throughout life or to improvements in diagnostics (especially newborn screening) and treatments in the younger generation of patients.

  13. Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis

    Directory of Open Access Journals (Sweden)

    F. Habarou

    2015-03-01

    Full Text Available Pyruvate carboxylase (PC is a biotin-containing mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, thereby being involved in gluconeogenesis and in energy production through replenishment of the tricarboxylic acid (TCA cycle with oxaloacetate. PC deficiency is a very rare metabolic disorder. We report on a new patient affected by the moderate form (the American type A. Diagnosis was nearly fortuitous, resulting from the revision of an initial diagnosis of mitochondrial complex IV (C IV defect. The patient presented with severe lactic acidosis and pronounced ketonuria, associated with lethargy at age 23 months. Intellectual disability was noted at this time. Amino acids in plasma and organic acids in urine did not show patterns of interest for the diagnostic work-up. In skin fibroblasts PC showed no detectable activity whereas biotinidase activity was normal. We had previously reported another patient with the severe form of PC deficiency and we show that she also had secondary C IV deficiency in fibroblasts. Different anaplerotic treatments in vivo and in vitro were tested using fibroblasts of both patients with 2 different types of PC deficiency, type A (patient 1 and type B (patient 2. Neither clinical nor biological effects in vivo and in vitro were observed using citrate, aspartate, oxoglutarate and bezafibrate. In conclusion, this case report suggests that the moderate form of PC deficiency may be underdiagnosed and illustrates the challenges raised by energetic disorders in terms of diagnostic work-up and therapeutical strategy even in a moderate form.

  14. Developmental window of sensorineural deafness in biotinidase-deficient mice.

    Science.gov (United States)

    Maheras, Kathleen June; Pindolia, Kirit; Wolf, Barry; Gow, Alexander

    2017-05-17

    Biotinidase deficiency is an autosomal recessively inherited disorder that results in the inability to recycle the vitamin, biotin. If untreated, the disorder can result in a range of neurological and cutaneous symptoms, including sensorineural deficits and deafness. To understand early mechanistic abnormalities that may precede more generalized and nonspecific effects of metabolic deficits such as weight loss and acidosis, we have analyzed auditory brainstem responses (ABRs) in biotinidase-deficient knockout (Btd (-/-) ) mice in the periweaning period with or without dietary biotin supplementation. We find significant increases in the latency of wave V of the ABR elicited by pure tone stimuli at one octave intervals, which precede substantial increases in ABR thresholds. Finer interpeak latency analyses of these changes indicate they are confined to the latter ABR waves associated with the CNS and likely reflect slowed brainstem transmission time. In contrast, peripheral nervous system conduction velocity appears normal. Further, we find that biotin-supplementation after the onset of symptoms reverses the latency shifts, which has significant relevance for early treatment in patients. Finally, ABR latencies in Btd (-/-) mice fed a biotin-supplemented diet for the first month of life appear refractory to transmission time slowing during a subsequent bout of biotin deficiency. These data suggest a transient vulnerability window for biotin deficiency in the auditory brainstem. Finally, we also observe a developmental vulnerability window involving follicular melanosome production or melanocyte survival. Sensorineural deafness precedes peripheral hearing loss in developmental biotinidase deficiency and is transient if rescued by dietary biotin within a short developmental window.

  15. Neuroendocrine and Cardiovascular Risk Factors in Adults with Pituitary Growth Hormone Deficiency (Literature Review

    Directory of Open Access Journals (Sweden)

    S.I. Ismailov

    2013-06-01

    Full Text Available In this article authors discussed the results of literature review, which has been dedicated to study of different complications of growth hormone deficiency in adults, referring to the literature of the last 10–15 years. Based on this analysis, the authors concluded that in adults with growth hormone deficiency there is an adverse profile of cardiovascular risk. Patients with growth hormone deficiency have an adverse lipid profile, elevated body mass index, increased waist circumference and a high risk of hypertension. These disorders are likely to explain the increased cardiovascular mortality observed in patients with hypopituitarism, regardless of the etiology of growth hormone deficiency in adults.

  16. The first report of Japanese patients with asparagine synthetase deficiency.

    Science.gov (United States)

    Yamamoto, Takahiro; Endo, Wakaba; Ohnishi, Hidenori; Kubota, Kazuo; Kawamoto, Norio; Inui, Takehiko; Imamura, Atsushi; Takanashi, Jun-Ichi; Shiina, Masaaki; Saitsu, Hirotomo; Ogata, Kazuhiro; Matsumoto, Naomichi; Haginoya, Kazuhiro; Fukao, Toshiyuki

    2017-03-01

    Asparagine synthetase (ASNS) deficiency was recently discovered as a metabolic disorder of non-essential amino acids, and presents as severe progressive microcephaly, intellectual disorder, dyskinetic quadriplegia, and intractable seizures. Two Japanese children with progressive microcephaly born to unrelated patients were analyzed by whole exome sequencing and novel ASNS mutations were identified. The effects of the ASNS mutations were analyzed by structural evaluation and in silico predictions. We describe the first known Japanese patients with ASNS deficiency. Their clinical manifestations were very similar to reported cases of ASNS deficiency. Progressive microcephaly was noted during the prenatal period in patient 1 but only after birth in patient 2. Both patients had novel ASNS mutations: patient 1 had p.L145S transmitted from his mother and p.L247W which was absent from his mother, while patient 2 carried p.V489D and p.W541Cfs*5, which were transmitted from his mother and father, respectively. Three of the four mutations were predicted to affect protein folding, and in silico analyses suggested that they would be pathogenic. We report the first two Japanese patients with ASNS deficiency. Disease severity appears to vary among patients, as is the case for other non-essential amino acid metabolic disorders. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  17. Phosphorus Deficiency in Ducklins

    Institute of Scientific and Technical Information of China (English)

    CuiHengmin; LuoLingping

    1995-01-01

    20 one-day-old Tianfu ducklings were fed on a natural diet deficient in phosphorus(Ca 0.80%,P 0.366%)for three weeks and examined for signs and lesions.Signs began to appear at the age of one week,and became serous at two weeks.13 ducklings died during the experiment.Morbidity was 100% and mortality was 65%.The affected ducklings mainly showed leg weakness,severe lamencess,deprssion,lack of appetite and stunted growth,The serum alkaline phosphatase activities increased markedly.The serum phosphorus concentration,tibial ash,ash calcium and phosphorus content decreased obviously.At necropsy,maxillae and ribe were soft,and the latter was crooked.Long ones were soft and broke easily.The hypertrophic zone of the growth-plate in the epiphysis of long ones was lengthened and osteoid tissue increased in the metaphyseal spongiosa histopathologically.The above mentioned symptoms and lesions could be prevented by adding phosphorus to the natural deficient diet(up to 0.65%),The relationship between lesions and signs,pathomorphological characterisation and pathogensis were also discussed in this paper.

  18. Glucose-6-phosphatase deficiency

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    Labrune Philippe

    2011-05-01

    Full Text Available Abstract Glucose-6-phosphatase deficiency (G6P deficiency, or glycogen storage disease type I (GSDI, is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more frequent type, representing about 80% of GSDI patients. The disease commonly manifests, between the ages of 3 to 4 months by symptoms of hypoglycemia (tremors, seizures, cyanosis, apnea. Patients have poor tolerance to fasting, marked hepatomegaly, growth retardation (small stature and delayed puberty, generally improved by an appropriate diet, osteopenia and sometimes osteoporosis, full-cheeked round face, enlarged kydneys and platelet dysfunctions leading to frequent epistaxis. In addition, in GSDIb, neutropenia and neutrophil dysfunction are responsible for tendency towards infections, relapsing aphtous gingivostomatitis, and inflammatory bowel disease. Late complications are hepatic (adenomas with rare but possible transformation into hepatocarcinoma and renal (glomerular hyperfiltration leading to proteinuria and sometimes to renal insufficiency. GSDI is caused by a dysfunction in the G6P system, a key step in the regulation of glycemia. The deficit concerns the catalytic subunit G6P-alpha (type Ia which is restricted to expression in the liver, kidney and intestine, or the ubiquitously expressed G6P transporter (type Ib. Mutations in the genes G6PC (17q21 and SLC37A4 (11q23 respectively cause GSDIa and Ib. Many mutations have been identified in both genes,. Transmission is autosomal recessive. Diagnosis is based on clinical presentation, on abnormal basal values and absence of hyperglycemic response to glucagon. It can be confirmed by demonstrating a deficient activity of a G6P system component in a liver biopsy. To date, the diagnosis is most

  19. Glucose-6-phosphatase deficiency.

    Science.gov (United States)

    Froissart, Roseline; Piraud, Monique; Boudjemline, Alix Mollet; Vianey-Saban, Christine; Petit, François; Hubert-Buron, Aurélie; Eberschweiler, Pascale Trioche; Gajdos, Vincent; Labrune, Philippe

    2011-05-20

    Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more frequent type, representing about 80% of GSDI patients. The disease commonly manifests, between the ages of 3 to 4 months by symptoms of hypoglycemia (tremors, seizures, cyanosis, apnea). Patients have poor tolerance to fasting, marked hepatomegaly, growth retardation (small stature and delayed puberty), generally improved by an appropriate diet, osteopenia and sometimes osteoporosis, full-cheeked round face, enlarged kydneys and platelet dysfunctions leading to frequent epistaxis. In addition, in GSDIb, neutropenia and neutrophil dysfunction are responsible for tendency towards infections, relapsing aphtous gingivostomatitis, and inflammatory bowel disease. Late complications are hepatic (adenomas with rare but possible transformation into hepatocarcinoma) and renal (glomerular hyperfiltration leading to proteinuria and sometimes to renal insufficiency). GSDI is caused by a dysfunction in the G6P system, a key step in the regulation of glycemia. The deficit concerns the catalytic subunit G6P-alpha (type Ia) which is restricted to expression in the liver, kidney and intestine, or the ubiquitously expressed G6P transporter (type Ib). Mutations in the genes G6PC (17q21) and SLC37A4 (11q23) respectively cause GSDIa and Ib. Many mutations have been identified in both genes,. Transmission is autosomal recessive. Diagnosis is based on clinical presentation, on abnormal basal values and absence of hyperglycemic response to glucagon. It can be confirmed by demonstrating a deficient activity of a G6P system component in a liver biopsy. To date, the diagnosis is most commonly confirmed

  20. First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children

    Directory of Open Access Journals (Sweden)

    Danika Nadeen Senanayake

    2015-03-01

    Full Text Available We report three symptomatic children with profound biotinidase deficiency from Sri Lanka. All three children presented with typical clinical features of the disorder. The first is homozygous for a missense mutation in the BTD gene (c.98_104 del7insTCC; p.Cys33PhefsX36 that is commonly seen in the western countries, the second is homozygous for a novel missense mutation (p.Ala439Asp, and the third is the first reported instance of a contiguous gene deletion causing the enzyme deficiency. In addition, this latter finding exemplifies the importance of considering a deletion within the BTD gene for reconciling enzymatic activity with genotype, which can occur in asymptomatic children who are identified by newborn screening.

  1. Management of Iron Deficiency Anemia

    OpenAIRE

    Jimenez, Kristine; Kulnigg-Dabsch, Stefanie; Gasche, Christoph

    2015-01-01

    Anemia affects one-fourth of the world’s population, and iron deficiency is the predominant cause. Anemia is associated with chronic fatigue, impaired cognitive function, and diminished well-being. Patients with iron deficiency anemia of unknown etiology are frequently referred to a gastroenterologist because in the majority of cases the condition has a gastrointestinal origin. Proper management improves quality of life, alleviates the symptoms of iron deficiency, and reduces the need for blo...

  2. Anterior Segment Findings in Vitamin A Deficiency: A Case Series

    Science.gov (United States)

    Rubino, Pierangela; Mora, Paolo; Ungaro, Nicola; Gandolfi, Stefano A.; Orsoni, Jelka G.

    2015-01-01

    Vitamin A deficiency is a rare but vision threatening disorder in the developed world, which can lead to blindness for severe keratomalacia with cornea scarring and perforation or night blindness due to impaired dark adaptation. Conversely, the disease is quite common in developing countries, as a consequence of chronic malnutrition. The correct diagnosis and therapy with prompt vitamin A supplementation avoid blindness. We report a series of 3 local cases with different age and causes for vitamin A deficiency. The diagnostic workup, therapy, and prognosis are discussed. PMID:26509090

  3. Influence of obesity and androgen deficiency on prostatic blood circulation

    Directory of Open Access Journals (Sweden)

    I. A. Tyuzikov

    2012-01-01

    Full Text Available In Study at 120 Diabetes Mellitus II type men the high frequency Obesity (71,7% and Androgen Deficiency (52,8—64,5% of the patients depending on a degree of the indemnification and them pathogenic authentic communications were shown. The blood level of total testosterone was represented by the critical factor of Prostatic arterial Blood Circulation. Obesity and Androgen Deficiency are seem as independent risk factors to development of ischemic prostatopathy, such as Prostatic blood circulation Disorders can develop earlier than other variants of the diabetic microangiophaty.

  4. Psychomotor retardation in a girl with complete growth hormone deficiency.

    Science.gov (United States)

    Dayal, Devi; Malhi, Prabhjot; Kumar Bhalla, Anil; Sachdeva, Naresh; Kumar, Rakesh

    2013-01-01

    Infants with complete growth hormone deficiency may suffer from psychomotor retardation in addition to severe growth failure. Without replacement therapy, they may have a compromised intellectual potential manifesting as learning disabilities and attention-deficit disorders in later life. In this communication, we discuss an infant who showed improvement in physical growth after growth hormone therapy but her psychomotor skills did not improve probably due to late start of treatment. There is a need to start growth hormone therapy as early as possible in infants with complete growth hormone deficiency to avoid adverse effects on psychomotor and brain development.

  5. Evaluation of factor IX deficiency by interdigitated electrode (IDE)

    Science.gov (United States)

    Gopinath, Subash C. B.; Hashim, Uda; Uda, M. N. A.

    2017-03-01

    Factor IX deficiency is the main cause of hemophilia A and B. This a severe excessive bleeding disorder that can even kill the patient if not treated with the right prescription of Factor IX hormone to stop the bleeding. The bleeding can be caused by an injury or even a sudden bleeding in some very rare cases. To find the Factor IX effectiveness and to understand the deficiency more carefully for the future of medicine, experiments are conducted to test the Factor IX using the Interdigitated Electrode (IDE) and gold Nanoparticle with the help of Nanoelectrical technology.

  6. Conversion Disorder

    Science.gov (United States)

    ... Recent significant stress or emotional trauma Being female — women are much more likely to develop conversion disorder Having a mental health condition, such as mood or anxiety disorders, dissociative disorder or certain personality disorders Having ...

  7. Conduct disorder

    Science.gov (United States)

    ... Conduct disorder is often linked to attention-deficit disorder . Conduct disorder also can be an early sign of ... child or teen has a history of conduct disorder behaviors. A physical examination and blood tests can help ...

  8. Psychotic Disorders

    Science.gov (United States)

    Psychotic disorders are severe mental disorders that cause abnormal thinking and perceptions. People with psychoses lose touch ... is not there. Schizophrenia is one type of psychotic disorder. People with bipolar disorder may also have ...

  9. Neuroimaging of Lipid Storage Disorders

    Science.gov (United States)

    Rieger, Deborah; Auerbach, Sarah; Robinson, Paul; Gropman, Andrea

    2013-01-01

    Lipid storage diseases, also known as the lipidoses, are a group of inherited metabolic disorders in which there is lipid accumulation in various cell types, including the central nervous system, because of the deficiency of a variety of enzymes. Over time, excessive storage can cause permanent cellular and tissue damage. The brain is particularly…

  10. Analysis of assessment results of eliminating iodine deficiency disorders in Yunnan Province by the year 2009 to 2010%云南省2009~2010年实现消除碘缺乏病规划目标考评结果分析

    Institute of Scientific and Technical Information of China (English)

    叶枫; 赵溯; 张浩伟; 王跃兵; 马琳; 马永康; 董兴齐; 黄文丽; 李加国; 吴鹤松; 郭玉熹; 张海涛; 王安伟; 杨林; 李兆祥

    2012-01-01

    Objective In order to know the condition about 95% counties reached the standard of eliminating IDD in Yunnan Province. Analysis and summary the evaluation results, evaluate the preventive effect, to provide the basis for making IDD prevention strategies. Methods The notice will be used in accordance with the content and requirement of the evaluating programme of realizing the stage goal of elimilating IDD at the county level issued by state' s three ministries. In the province, county self - examination, provincial selective examination. Listen to the reports, look into materials, spot check and selective examination, develop examination on leadership, iodized salt management, monitoring and control, health education (hereinafter referred to as the four management index), residents iodized salt popularization, 8-10 years old children iodine nutritional status and health education, etc. Results The results of the county self - examination and provincial assessment respectively were: the province respectively have gained 91.79 and 93.52 scores on average in the four management index, the consumption rate of qualified edible salt in residents were 95.28% and 98.46% respectively, the coverage of iodized salt were 97.79% and 99.58% respectively, the qualified rate of iodized salt were 97. 39% and 98.87% respectively, the urinary median iodine were 262.57 μg/L and 289.04 μg/L respectively, the goiter rate of children accounted for 1.31 % and 0.85 % respectively, the awareness rate of health education in grade five students were 88.0% and 96.6% respectively. The stage goal of elimilating JDD in Yunnan Province has come true except Daguan county which qualified rate of iodized salt were 89.9% and the goiter rate of children was 19%. Conclusions Production - demand - sales integration, production quality assurance and abundant supply for iodized salt. The stage goal of elimilating IDD has come true in the 99.2% of county in Yunnan Province.%目的 了解云南省实现95

  11. Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome

    NARCIS (Netherlands)

    Willemsen, M.A.A.P.; Vissers, L.E.L.M.; Verbeek, M.M.; Bon, B.W.M. van; Geuer, S.; Gilissen, C.F.; Klepper, J.; Kwint, M.P.; Leen, W.G.; Pennings, M.; Wevers, R.A.; Veltman, J.A.; Kamsteeg, E.J.

    2017-01-01

    Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder with a complex phenotypic spectrum but simple biomarkers in cerebrospinal fluid. The disorder is caused by impaired glucose transport into the brain resulting from variants in SCL2A1. In 10% of GLUT1DS patients, a

  12. GLUT1 deficiency syndrome into adulthood: a follow-up study

    NARCIS (Netherlands)

    Leen, W.G.; Taher, M.; Verbeek, M.M.; Kamsteeg, E.J.; Warrenburg, B.P.C. van de; Willemsen, M.A.

    2014-01-01

    GLUT1 deficiency syndrome (GLUT1DS) is a treatable neurometabolic disorder in which glucose transport into the brain is disturbed. Besides the classic phenotype of intellectual disability, epilepsy, and movement disorders, other phenotypes are increasingly recognized. These include, for example, idi

  13. Medical deficiencies and traffic accidents : a review of the literature and a programme for research (summary).

    NARCIS (Netherlands)

    Griep, D.J.

    1965-01-01

    In 1964 a working part was established by the Dutch Government (Public Health Department) to study "Medical Deficiencies in the Prevention of Traffic Accidents. Study of the literature was directed at temporary and permanent medico-psychological disorders, and medical disorders in road users that

  14. Food fortification for addressing iron deficiency in Filipino children: benefits and cost-effectiveness.

    Science.gov (United States)

    Detzel, Patrick; Wieser, Simon

    2015-01-01

    Iron deficiency is one of the most widespread nutritional disorders in both developing and industrialized countries, making it a global public health concern. Anemia, mainly due to iron deficiency, affects one third of the world's population and is concentrated in women and children below 5 years of age. Iron deficiency anemia has a profound impact on human health and productivity, and the effects of iron deficiency are especially pronounced in the first 1,000 days of life. This critical window of time sets the stage for an individual's future physiological and cognitive health, underscoring the importance of addressing iron deficiency in infants and young children. This review focuses on the use of fortified foods as a cost-effective tool for addressing iron deficiency in infants and young children in the Philippines.

  15. Iron deficiency and iron deficiency anemia in women.

    Science.gov (United States)

    Coad, Jane; Pedley, Kevin

    2014-01-01

    Iron deficiency is one of the most common nutritional problems in the world and disproportionately affects women and children. Stages of iron deficiency can be characterized as mild deficiency where iron stores become depleted, marginal deficiency where the production of many iron-dependent proteins is compromised but hemoglobin levels are normal and iron deficiency anemia where synthesis of hemoglobin is decreased and oxygen transport to the tissues is reduced. Iron deficiency anemia is usually assessed by measuring hemoglobin levels but this approach lacks both specificity and sensitivity. Failure to identify and treat earlier stages of iron deficiency is concerning given the neurocognitive implications of iron deficiency without anemia. Most of the daily iron requirement is derived from recycling of senescent erythrocytes by macrophages; only 5-10 % comes from the diet. Iron absorption is affected by inhibitors and enhancers of iron absorption and by the physiological state. Inflammatory conditions, including obesity, can result in iron being retained in the enterocytes and macrophages causing hypoferremia as a strategic defense mechanism to restrict iron availability to pathogens. Premenopausal women usually have low iron status because of iron loss in menstrual blood. Conditions which further increase iron loss, compromise absorption or increase demand, such as frequent blood donation, gastrointestinal lesions, athletic activity and pregnancy, can exceed the capacity of the gastrointestinal tract to upregulate iron absorption. Women of reproductive age are at particularly high risk of iron deficiency and its consequences however there is a controversial argument that evolutionary pressures have resulted in an iron deficient phenotype which protects against infection.

  16. Detection of enteroviruses in cases of neurological disorders in the State of Pará, Brazil Pesquisa de enterovírus em casos de meningite assética e síndrome de deficiência motora em Belém, Pará, Brasil

    Directory of Open Access Journals (Sweden)

    Maria de Lourdes Contente GOMES

    2001-12-01

    Full Text Available Eighty-one cerebrospinal fluid (CSF samples mainly from cases of aseptic meningitis and motor deficiency syndrome were sent to the Virology Section of Evandro Chagas Institute, Belém Pará, in the period of January 1995 to January 1996 in order to isolate viruses. All samples were inoculated onto HEp-2 cell culture and newborn mice, with negative results. The probability of isolating viruses by these methods is reduced because of the low concentration of viral particles in these specimens. In order to obtain more information about the etiology of these cases, a group of 23 samples were selected to be tested by a more sensitive technique than the virus isolation - the reverse transcription polymerase chain reaction (RT-PCR. Specific primers directed to conserved regions in the enterovirus genome were used, considering that this group of viruses is frequently associated with these neurological disorder. The age of the patients ranged from 1 to 55 years and nearly all of them lived in Belém, State of Pará, North of Brazil. Of 15 samples analyzed by RT PCR nine (60% were positive; of these, 6 (66.6% had motor deficiency and 3 (33.3% developed aseptic meningitis. These results show that it is important to investigate enterovirus as cause of these syndromes.Amostras de líquido céfalo raquidiano colhidas de 81casos (principalmente meningite asséptica e deficiência motora foram recebidas na Seção de Virologia do Instituto Evandro Chagas em Belém, Pará no período de janeiro de 1995 a janeiro de 1996, para investigação etiológica. Todas as amostras foram inoculadas em células HEp-2 e em camundongos recém nascidos, com resultados negativos. A probabilidade de se isolar vírus por esse método é reduzida devido à baixa concentração de partículas virais nesses espécimes. Com o objetivo de se obter mais informações sobre a etiologia desses casos, um grupo de 15 amostras, foram testadas usando a reação em cadeia de polimerase com

  17. Etiology of growth hormone deficiency in children and adolescents

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    Mitrović Katarina

    2013-01-01

    Full Text Available Introduction. Growth hormone deficiency (GHD can be isolated or associated with deficiency of other pituitary gland hormones. According to age at diagnosis, causes of GHD are divided into congenital or acquired, and according to etiology into recognized and unknown. Objective. We analyzed etiology and prevalence of GHD, demographic data at birth, age, body height (BH and bone age at diagnosis as well as the frequency of other pituitary hormone deficiencies. Methods. The study involved 164 patients (109 male. The main criterion for the diagnosis of GHD was inadequate response of GH after two stimulation tests. The patients were classified into three groups: idiopathic, congenital and acquired GHD. Results. Idiopathic GHD was confirmed in 57.9% of patients, congenital in 11.6% and acquired in 30.5%. The mean age at diagnosis of GHD was 10.1±4.5 years. The patients with congenital GHD had most severe growth retardation (-3.4±1.4 SDS, while the patients with idiopathic GHD showed most prominent bone delay (-3.6±2.3 SDS. The prevalence of multiple pituitary hormone deficiency was 56.1%, in the group with congenital GHD 73.7%, acquired GHD 54.0% and idiopathic GHD 53.7%. The frequency of thyrotropin deficiency ranged from 88.2-100%, of adrenocorticotrophin 57.1-68.8% and of gonadotrophins deficiency 57.1- 63.0%, while deficiency of antidiuretic hormone was 2.0-25.0%. Conclusion. Although regular BH measurements enable early recognition of growth retardation, patients’ mean age and degree of growth retardation indicate that GHD is still diagnosed relatively late. A high incidence of other pituitary hormone deficiencies requires a detailed investigation of the etiology of disorders and evaluation of all pituitary functions in each child with confirmed GHD.

  18. Iron deficiency anemia in children

    OpenAIRE

    Pochinok, T. V.

    2016-01-01

    In the article the role of iron in the human body is highlighted. The mechanism of development of iron deficiency states, their consequences and the basic principles of diagnosis and correction of children of different ages are shown.Key words: children, iron deficiency anemia, treatment.

  19. Iron deficiency and cardiovascular disease

    NARCIS (Netherlands)

    von Haehling, Stephan; Jankowska, Ewa A.; van Veldhuisen, Dirk J.; Ponikowski, Piotr; Anker, Stefan D.

    2015-01-01

    Iron deficiency affects up to one-third of the world's population, and is particularly common in elderly individuals and those with certain chronic diseases. Iron excess can be detrimental in cardiovascular illness, and research has now also brought anaemia and iron deficiency into the focus of card

  20. Iron deficiency anemia in children.

    Science.gov (United States)

    Subramaniam, Girish; Girish, Meenakshi

    2015-06-01

    Iron deficiency is not just anemia; it can be responsible for a long list of other manifestations. This topic is of great importance, especially in infancy and early childhood, for a variety of reasons. Firstly, iron need is maximum in this period. Secondly, diet in infancy is usually deficient in iron. Thirdly and most importantly, iron deficiency at this age can result in neurodevelopmental and cognitive deficits, which may not be reversible. Hypochromia and microcytosis in a complete blood count (CBC) makes iron deficiency anemia (IDA) most likely diagnosis. Absence of response to iron should make us look for other differential diagnosis like β thalassemia trait and anemia of chronic disease. Celiac disease is the most important cause of true IDA not responding to oral iron therapy. While oral ferrous sulphate is the cheapest and most effective therapy for IDA, simple nonpharmacological and pharmacological measures can go a long way in prevention of iron deficiency.