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Sample records for dehydrated hereditary stomatocytosis

  1. Hereditary stomatocytosis: First case report from Valley of Kashmir

    Directory of Open Access Journals (Sweden)

    Javid Rasool

    2015-01-01

    Full Text Available Stomatocytes are erythrocytes with a central slit or mouth-shaped (stoma area of central pallor when examined on dried smears. In wet preparations, they are uniconcave rather than biconcave, giving them a bowllike appearance. In vitro, stomatocytes are produced by drugs that intercalate into the inner half of the lipid bilayer, thereby expanding the inner lipid surface area relative to that of the outer half of the bilayer. Hereditary stomatocytosis (also known as hereditary hydrocytosis, or overhydrated stomatocytosis refers to a heterogeneous group of autosomal dominant hemolytic anemias caused by altered sodium permeability of the red cell membrane. We present the first case report of hereditary stomatocytosis in a 10-year-old male from the valley of Kashmir. Only eight families with this condition have been described worldwide.

  2. Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis.

    NARCIS (Netherlands)

    Darghouth, D.; Koehl, B.; Heilier, J.F.; Madalinski, G.; Bovee, P.H.; Bosman, G.J.C.G.M.; Delaunay, J.; Junot, C.; Romeo, P.H.

    2011-01-01

    Overhydrated hereditary stomatocytosis, clinically characterized by hemolytic anemia, is a rare disorder of the erythrocyte membrane permeability to monovalent cations, associated with mutations in the Rh-associated glycoprotein gene. We assessed the red blood cell metabolome of 4 patients with this

  3. Disease: H00232 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00232 Hereditary stomatocytosis (HSt); Dehydrated hereditary stomatocytosis (DHS);... Overhydrated hereditary stomatocytosis (OHS); Familial pseudohyperkalemia (FP) Hereditary stomatocytosis de...80] SLC4A1 [HSA:6521] [KO:K06573] STOM [HSA:2040] [KO:K17286] ICD-10: D58.8 OMIM: 603528 185000 PMID:19261491 Bruce LJ Hereditary...88641 Delaunay J, Stewart G, Iolascon A Hereditary dehydrated and overhydrated stomatocytosis: recent advances. Curr Opin Hematol 6:110-4 (1999) ...

  4. Hereditary red cell membrane disorders and laboratory diagnostic testing.

    Science.gov (United States)

    King, M-J; Zanella, A

    2013-06-01

    This overview describes two groups of nonimmune hereditary hemolytic anemias caused by defects in membrane proteins located in distinct layers of the red cell membrane. Hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary pyropoikilocytosis (HPP) represent disorders of the red cell cytoskeleton. Hereditary stomatocytoses represents disorders of cation permeability in the red cell membrane. The current laboratory screening tests for HS are the osmotic fragility test, acid glycerol lysis time test (AGLT), cryohemolysis test, and eosin-5'-maleimide (EMA)-binding test. For atypical HS, SDS-polyacrylamide gel electrophoresis of erythrocyte membrane proteins is carried out to confirm the diagnosis. The diagnosis of HE/HPP is based on abnormal red cell morphology and the detection of protein 4.1R deficiency or spectrin variants using gel electrophoresis. None of screening tests can detect all HS cases. Some testing centers (a survey of 25 laboratories) use a combination of tests (e.g., AGLT and EMA). No specific screening test for hereditary stomatocytoses is available. The preliminary diagnosis is based on presenting a compensated hemolytic anemia, macrocytosis, and a temperature or time dependent pseudohyperkalemia in some patients. Both the EMA-binding test and the osmotic fragility test may help in differential diagnosis of HS and hereditary stomatocytosis.

  5. Cocaine induces a reversible stomatocytosis of red blood cells and increases blood viscosity.

    Science.gov (United States)

    Cagienard, F; Schulzki, T; Furlong, P; Reinhart, W H

    2013-01-01

    Severe side effects of cocaine consumption are vasoocclusive events such as myocardial infarction and stroke. We have hypothesized that cocaine could affect red blood cells (RBCs) and alter the rheological behaviour of blood. Heparinized blood from healthy volunteers was incubated with a final hematocrit of 45% with increasing cocaine concentrations: 0, 10, 100, 1000, and 10'000 μmol/L plasma. Time dependence of the shape change was tested in phosphate buffered saline containing cocaine. RBCs were fixed in 1% glutaraldehyde for morphological analysis. Blood viscosity was measured with a Couette Viscometer (Contraves LS 30) at 37°C and a shear rate of 69.5 s⁻¹. RBC aggregation was assessed with a Myrenne aggregometer. Cocaine induced a dose-dependent stomatocytic shape transformation of RBCs, which was more pronounced in buffer than in plasma (plasma protein binding of the drug). Stomatocytosis occurs when a drug intercalates preferentially in the inner half of the membrane lipid bilayer. It was a time-dependent process with two components, an almost instant shape change occurring within 1 s, followed by a gradual further shape change during 10 min. Stomatocytosis was reversible by resuspension of the RBCs in cocaine-free buffer. This stomatocytic shape change increased whole blood viscosity at high shear rate from 5.69±0.31 mPa.s to 6.39±0.34 mPa.s for control and 10'000 μmol/L cocaine, respectively (p<0.01). RBC aggregation was not affected by the shape change. These effects occurred at a cocaine concentration, which is several-fold above those measured in vivo. Therefore, it is unlikely that hemorheological factors are involved in vascular events after cocaine consumption.

  6. Hereditary spherocytosis

    Energy Technology Data Exchange (ETDEWEB)

    Weed, R.I.

    1975-10-01

    Studies of the clinical features of hereditary spherocytosis since 1871 and laboratory investigation of the cellular abnormalities since 1940 have led to the characterization of hereditary spherocytosis as a prime example of a Mendelian dominant, genetically determined disorder of the erythrocyte membrane. This review of hereditary spherocytosis emphasizes the contributions of Dr. Lawrence Young and many others to our present understanding of the disease and discusses current studies of the protein abnormality in the membrane of hereditary spherocytes.

  7. [Hereditary hemocromatosis].

    Science.gov (United States)

    Franchini, Massimo; Veneri, Dino

    2004-10-01

    Hereditary hemochromatosis is a disorder of iron metabolism characterized by a progressive tissue iron overload which leads to an irreversible organ damage if it is not treated timely. The recent developments in the field of molecular medicine have radically changed the physiopathology and the diagnosis of this disease. However, transferrin saturation and serum ferritin are still the most reliable tests for the detection of subjects with hereditary hemochromatosis. Therapeutic phlebotomy is the mainstay of the treatment of hereditary hemochromatosis. If phlebotomy is started before the onset of irreversible organ damages, the life expectancy of these patients is similar to that of normal population.

  8. Hereditary pancreatitis

    Institute of Scientific and Technical Information of China (English)

    Richard M Charnley

    2003-01-01

    Hereditary pancreatitis is an autosomal dominant condition,which results in recurrent attacks of acute pancreatitis,progressing to chronic pancreatitis often at a young age.The majority of patients with hereditary pancreatitis expressone of two mutations (R122H or N29I) in the cationictrypsinogen gene (PRSS1 gene). It has been hypothesisedthat one of these mutations, the R122H mutation causespancreatitis by altering a trypsin recognition site sopreventing deactivation of trypsin within the pancreas andprolonging its action, resulting in autodigestion. Families withthese two mutations have been identified in many countriesand there are also other rarer mutations, which have alsobeen linked to hereditary pancreatitis.Patients with hereditary pancreatitis present in the sameway as those with sporadic pancreatitis but at an earlierage. It is common for patients to remain undiagnosed formany years, particularly ifthey present with non-specificsymptoms. Hereditary pancreatitis should always beconsidered in patients who present with recurrent pancreatitiswith a family history of pancreatic disease. If patients withthe 2 common mutations are compared, those with theR122H mutation are more likely to present at a younger ageand are more likely to require surgical intervention than thosewith N29I. Hereditary pancreatitis carries a 40 % lifetimerisk of pancreatic cancer with those patients aged between50 to 70 being most at risk in whom screening tests maybecome important.

  9. Hereditary Diffuse Gastric Cancer

    Science.gov (United States)

    ... Hereditary Diffuse Gastric Cancer Request Permissions Hereditary Diffuse Gastric Cancer Approved by the Cancer.Net Editorial Board , 11/2015 What is hereditary diffuse gastric cancer? Hereditary diffuse gastric cancer (HDGC) is an inherited ...

  10. Hereditary spherocytosis.

    Science.gov (United States)

    Iolascon, A; Avvisati, R A; Piscopo, C

    2010-09-01

    Hereditary spherocytosis is a common hemolytic disorder characterized by a defect or deficiency in one or more of the proteins composing red blood cell membrane. As a result, red blood cells have an abnormal shape, higher metabolic requirements, and are prematurely trapped and destroyed in the spleen. Hereditary spherocytosis, including the very mild or subclinical forms, is the most common cause of non-immune hemolytic anemia among people of Northern European ancestry, with a prevalence of approximately 1 in 2000. However very mild forms of the disease may be much more common. Hereditary spherocytosis is inherited in a dominant fashion in 75% of cases, whereas the remaining are truly recessive cases and de novo mutations. This review reports current concepts on red cell membrane structure and it will attempt to clarify molecular defects leading to spherocyte and their consequences.

  11. [Hereditary neuropathies].

    Science.gov (United States)

    Vallat, Jean-Michel; Calvo, Judith; Ghorab, Karima; Tazir, Meriem

    2008-11-15

    Although there are many human hereditary neuropathies, most of them with the exception of Charcot-Marie-Tooth disease or hereditary sensorimotor neuropathy, are rare. Irrespective of their type, the mode of transmission may be autosomal dominant or recessive, or X-linked. The most difficult to diagnose, however, are the sporadic forms. It is customary to distinguish the cases in which the neuropathy is the sole clinical expression from multisystemic diseases where neuropathy is one component of multi-organ involvement. The complexity and the multiplicity of genes involved and the lack of understanding of their exact functions hinder logical presentation of these hereditary neuropathies. For understandable technical reasons, the stage of specific treatment, namely the repair of the mutated gene, has yet to be attained.

  12. Hereditary angioedema

    DEFF Research Database (Denmark)

    Peterson, M P; Bygum, A

    2016-01-01

    We report a 64-year-old man who suffered from recurrent visible swelling attacks since the age of 20 as well as episodes with severe upper airway edema, resulting in 4 emergency tracheotomies. Eventually after 44 years he was diagnosed with hereditary angioedema (HAE) type II. The aims...

  13. Hereditary Angioedema

    DEFF Research Database (Denmark)

    Abdel-Karim, Omar; Dizdarevic, Adis; Bygum, Anette

    2014-01-01

    Hereditary angioedema is an inherited disease that causes periodic swelling attacks, which can be life threatening and have a major effect on a patient's life. Studies have shown that home therapy for angioedema reduces disease severity, leads to faster relief of symptoms, and improves quality...

  14. Hereditary hyperbilirubinemias

    Directory of Open Access Journals (Sweden)

    Radlović Nedeljko

    2014-01-01

    Full Text Available Inherited disorders of bilirubin metabolism involve four autosomal recessive syndromes: Gilbert, Crigler- Najjar, Dubin-Johnson and Rotor, among which the first two are characterized by unconjugated and the second two by conjugated hyperbilirubinemia. Gilbert syndrome occurs in 2%-10% of general population, while others are rare. Except for Crigler-Najjar syndrome, hereditary hyperbilirubinemias belong to benign disorders and thus no treatment is required.

  15. Hereditary spherocytosis

    Directory of Open Access Journals (Sweden)

    Meenakshi Kalyan

    2014-01-01

    Full Text Available Hereditary spherocytosis (HS is a familial hemolytic disorder with marked heterogeneity of clinical features, ranging from an asymptomatic condition to a fulminant hemolytic anemia. In severe cases, the disorder may present in early childhood, but in some cases it may go unnoticed until later in adult life. We present a 32-year-old male who presented with anemia, jaundice, splenomegaly, and gallstones. Seven of his family members had similar illness in the past. The Mother died of similar illness at the age of 40. The Blood film showed spherocytosis and reticulocytosis. There was increased osmotic fragility and a negative direct coomb′s test. He was given folic acid supplements and was advised for splenectomy and cholecystectomy. This case is reported due to its rarity in Indian population.

  16. Electrolyte Concentrates Treat Dehydration

    Science.gov (United States)

    2009-01-01

    Wellness Brands Inc. of Boulder, Colorado, exclusively licensed a unique electrolyte concentrate formula developed by Ames Research Center to treat and prevent dehydration in astronauts returning to Earth. Marketed as The Right Stuff, the company's NASA-derived formula is an ideal measure for athletes looking to combat dehydration and boost performance. Wellness Brands also plans to expand with products that make use of the formula's effective hydration properties to help treat conditions including heat stroke, altitude sickness, jet lag, and disease.

  17. Cognitive performance and dehydration.

    Science.gov (United States)

    Adan, Ana

    2012-04-01

    No matter how mild, dehydration is not a desirable condition because there is an imbalance in the homeostatic function of the internal environment. This can adversely affect cognitive performance, not only in groups more vulnerable to dehydration, such as children and the elderly, but also in young adults. However, few studies have examined the impact of mild or moderate dehydration on cognitive performance. This paper reviews the principal findings from studies published to date examining cognitive skills. Being dehydrated by just 2% impairs performance in tasks that require attention, psychomotor, and immediate memory skills, as well as assessment of the subjective state. In contrast, the performance of long-term and working memory tasks and executive functions is more preserved, especially if the cause of dehydration is moderate physical exercise. The lack of consistency in the evidence published to date is largely due to the different methodology applied, and an attempt should be made to standardize methods for future studies. These differences relate to the assessment of cognitive performance, the method used to cause dehydration, and the characteristics of the participants.

  18. Dehydration and cognitive performance.

    Science.gov (United States)

    Grandjean, Ann C; Grandjean, Nicole R

    2007-10-01

    Human neuropsychology investigates brain-behavior relationships, using objective tools (neurological tests) to tie the biological and behavior aspects together. The use of neuropsychological assessment tools in assessing potential effects of dehydration is a natural progression of the scientific pursuit to understand the physical and mental ramifications of dehydration. It has long been known that dehydration negatively affects physical performance. Examining the effects of hydration status on cognitive function is a relatively new area of research, resulting in part from our increased understanding of hydration's impact on physical performance and advances in the discipline of cognitive neuropsychology. The available research in this area, albeit sparse, indicates that decrements in physical, visuomotor, psychomotor, and cognitive performance can occur when 2% or more of body weight is lost due to water restriction, heat, and/or physical exertion. Additional research is needed, especially studies designed to reduce, if not remove, the limitations of studies conducted to date.

  19. [Diagnosis of hereditary angioedema].

    Science.gov (United States)

    Bouillet, Laurence

    2015-01-01

    Hereditary angioedema is a rare disease, potentially life-threatening. It requires a specific treatment. Angioedema without wheals associated with abdominal attacks are very specific of this disease. Antigenemy and functional C1Inhibitor assays are necessary for the diagnosis. The hereditary angioedema with normal C1Inh (type III) is a diagnostic challenge. Bradykinin, secondary to kallikrein-kinin system activation is the key mediator of hereditary angioedema. Female are more symptomatic. Attacks can be induced by menstruations, pregnancies or contraceptive pills.

  20. Genetics Home Reference: hereditary spherocytosis

    Science.gov (United States)

    ... Understand Genetics Home Health Conditions hereditary spherocytosis hereditary spherocytosis Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Hereditary spherocytosis is a condition that affects red blood cells. ...

  1. Dehydration of the stratosphere

    Directory of Open Access Journals (Sweden)

    M. Schoeberl

    2011-03-01

    Full Text Available Domain filling, forward trajectory calculations are used to examine the global dehydration processes that control stratospheric water vapor. As with most Lagrangian models of this type, water vapor is instantaneously removed from the parcel to keep the relative humidity with respect to ice from exceeding saturation or a specified super-saturation value. We also test a simple parameterization of stratospheric convective moistening through ice lofting and the effect of gravity waves as a mechanism that can augment dehydration. Comparing diabatic and kinematic trajectories, we find, in agreement with previous authors, that the additional transport due to the vertical velocity "noise" in the kinematic calculation creates too dry a stratosphere and a too diffuse a water-vapor tape recorder signal compared observations. The diabatic simulations, on the other hand, produce stratospheric water vapor mixing ratios very close to that observed by Aura's Microwave Limb Sounder. Convective moistening, which will increases stratospheric HDO, also increases stratospheric water vapor while gravity waves do the opposite. We find that while the Tropical West Pacific is the dominant dehydration location, dehydration over Tropical South America is also important. Antarctica also makes a contribution to the overall stratospheric water vapor budget by releasing very dry air into the Southern Hemisphere stratosphere following the break up of the winter vortex.

  2. Hereditary urea cycle abnormality

    Science.gov (United States)

    ... vitro so the specific genetic cause is known. Teamwork between parents, the affected child, and doctors can help prevent severe illness. Alternative Names Abnormality of the urea cycle - hereditary; Urea cycle - hereditary abnormality Images Male urinary system Urea cycle References Lichter-Konecki ...

  3. Fruits and vegetables dehydration

    Science.gov (United States)

    de Ita, A.; Flores, G.; Franco, F.

    2015-01-01

    Dehydration diagrams were determined by means of Differential Thermal Analysis, DTA, and Thermo Gravimetric Analysis, TGA, curves of several simultaneous fruits and vegetables, all under the same conditions. The greater mass loss is associated with water containing in the structure of the investigated materials at low temperature. In poblano chile water is lost in a single step. The banana shows a very sharply two stages, while jicama can be observed although with a little difficulty three stages. The major mass loss occurs in the poblano chile and the lower in banana. The velocity and temperature of dehydration vary within a small range for most materials investigated, except for banana and cactus how are very different.

  4. [Developments in hereditary neuropathies].

    Science.gov (United States)

    Dubourg, O

    2012-12-01

    Hereditary sensorimotor neuropathies, or Charcot-Marie-Tooth disease (CMT) comprise a group of diseases with heterogeneous clinical, electrophysiological and genetic expression. They are classified by the mode of inheritance (autosomal dominant, X-linked dominant, autosomal recessive) and their electrophysiological characteristics taking into account the speed of motor conduction of the median nerve (demyelinating, intermediary and axonal forms). Certain purely motor forms are called spinal CMT or hereditary distal motor neuropathy, or distal spinal amyotrophy. CMT involving an important sensorial component, trophic disorders, or signs of dysautonomia are included in the classification of hereditary sensory and autonomic neuropathies.

  5. [Hereditary optic neuropathies].

    Science.gov (United States)

    Milea, D; Verny, C

    2012-10-01

    Hereditary optic neuropathies are a group of heterogeneous conditions affecting both optic nerves, with an autosomal dominant, autosomal recessive, X-related or mitochondrial transmission. The two most common non-syndromic hereditary optic neuropathies (Leber's hereditary optic neuropathy and autosomal dominant optic atrophy) are very different in their clinical presentation and their genetic transmission, leading however to a common, non-specific optic nerve atrophy. Beyond the optic atrophy-related visual loss, which is the clinical hallmark of this group of diseases, other associated neurological signs are increasingly recognized.

  6. Is Pancreatic Cancer Hereditary?

    Science.gov (United States)

    ... gene testing for hereditary pancreatitis is now available. Ataxia telangiectasia The team at Johns Hopkins discovered that inherited ... are known to cause the clinical syndrome of "ataxia telangiectasia," and 2-3% of people with familial pancreatic ...

  7. Hereditary Gingival Fibromatosis

    Science.gov (United States)

    Nevin, N. C.

    1971-01-01

    Case studies of two siblings suffering from a gum disorder in which enlargement of the gingival mucosa is caused by a fibrosis. The disorder in the two children was felt to be an hereditary recessive trait. (CD)

  8. Learning about Hereditary Hemochromatosis

    Science.gov (United States)

    ... and Its Implications Meeting A 1997 ELSI Report Learning About Hereditary Hemochromatosis What do we know about ... and treatment information. Hosted by the Dolan DNA Learning Center at Cold Spring Harbor Laboratory. Iron Overload ...

  9. Onion dehydration: a review.

    Science.gov (United States)

    Mitra, Jayeeta; Shrivastava, S L; Rao, P S

    2012-06-01

    Onion (Allium cepa), a very commonly used vegetable, ranks third in the world production of major vegetables. Apart from imparting a delicious taste and flavour due to its pungency in many culinary preparations, it serves several medicinal purposes also. Processing and preservation of onion by suitable means is a major thrust area since a long time. The various kinds of treatments followed for dehydration of onion such as convective air drying, solar drying, fluidized bed drying, vacuum microwave drying, infrared drying and osmotic drying are reviewed here. These techniques are mainly used for preservation and value addition of onion. Several researchers have tried for decades to model the drying kinetics and quality parameters, which are also compiled here briefly.

  10. Genetics Home Reference: hereditary angioedema

    Science.gov (United States)

    ... InfoSearch: Hereditary angioedema MalaCards: c1 inhibitor deficiency Merck Manual Professional Version Orphanet: Hereditary angioedema Patient Support and Advocacy Resources (2 links) International Patient Organization for C1 Inhibitor Deficiencies National Organization for Rare ...

  11. Natural gas dehydration by desiccant materials

    Directory of Open Access Journals (Sweden)

    Hassan A.A. Farag

    2011-12-01

    Increasing water vapor concentration in inlet feed gas leads to a marked decrease in dehydration efficiency. As expected, a higher inlet flow rate of natural gas decrease dehydration efficiency. Increasing feed pressure leads to higher dehydration efficiency.

  12. Hereditary periodic fever syndromes

    NARCIS (Netherlands)

    McDermott, MF; Frenkel, J

    Hereditary periodic fever syndromes are defined by recurrent attacks of generalised inflammation for which no infectious or auto-immune cause can be identified. For most of these disorders, the molecular basis has recently been elucidated. This has opened the prospect of novel therapeutic

  13. Managing hereditary ovarian cancer

    NARCIS (Netherlands)

    Mourits, M. J.; de Bock, G. H.

    2009-01-01

    In this review we present an overview of recent developments in the management of hereditary ovarian cancer. Until recently, intensive screening of the ovaries was recommended to mutation carriers and their first-degree female relatives. However, since screening is not effective in detecting early-s

  14. Understanding Hereditary Angioedema

    Science.gov (United States)

    ... INH) in their blood or this C1-INH protein does not function appropriately. These forms of hereditary angioedema are different ... In addition to a physical examination and medical history, HAE is diagnosed by measuring the level and function of C1-INH in the blood. Living with ...

  15. Hereditary Angioedema in Childhood

    DEFF Research Database (Denmark)

    Kjaer, Line; Bygum, Anette

    2012-01-01

    Hereditary angioedema (HAE) is a rare inherited disease that is often difficult to diagnose. We report a case of a 9-year-old boy with a spontaneous mutation causing HAE, diagnosed after a life-threatening episode of angioedema of the head and upper respiratory tract after a 5-year history...

  16. Hereditary Hearing Loss.

    Science.gov (United States)

    Tran, LenhAnh P.; Grundfast, Kenneth M.

    1997-01-01

    This article discusses inheritance patterns in hearing loss, epidemiology, clues to genetic causes, locating genes that cause hereditary disorders, genes related to hearing loss disorders in individuals with Usher syndrome, Waardenburg syndrome, Treacher-Collins syndrome, Branchio-oto-renal and Pendred syndromes, and the significance of finding…

  17. Thermal dehydration kinetics of phosphogypsum

    National Research Council Canada - National Science Library

    López, F. A; Tayibi, H; García-Díaz, I; Alguacil, F. J

    2015-01-01

    Phsophogypsum is a by-product from the processing phosphate rock. Before the use of it in cement industry such as setting regulator is necessary a study of dehydration reaction of phosphogypsum to avoid the false setting during the milling...

  18. The Application of Scanning Electron Microscopy on Study of Hereditary Spherocytosis family%遗传性球形红细胞增多症家系外周血红细胞形态扫描电镜观察

    Institute of Scientific and Technical Information of China (English)

    李娟; 万将厚; 陆莉; 蒲育栋; 赵丽

    2009-01-01

    目的 探讨遗传性球形红细胞增多症异形红细胞的形态变化.方法 5例临床表现轻重不同的同一家系遗传性球形红细胞增多症患者及1例正常对照的静脉血置于扫描电镜下观察.结果 5例患者外周血红细胞在扫描电镜下均有不同程度的形态学变化.结论 扫描电镜下形态学的变化对于判断异形红细胞类型和诊断本病很有帮助.%Objective: In order to study the erythrocyte morphorlogical evolution of hereditary spherocytosis (HS). Methods: The blood samples of 5 cases of HS and 1 cases of control was observed under scanning electron microscope. Results: The RBCs morphological change of Hereditary spherocytosis under scanning electron microscope have been to observe. Conclusion: The erythrocytes change of HS was very useful to diagnose HS. The disease which needs to be differentiated is hereditary stomatocytosis.

  19. Human hereditary hepatic porphyrias.

    Science.gov (United States)

    Nordmann, Yves; Puy, Hervé

    2002-11-01

    The human hereditary hepatic porphyrias are diseases due to marked deficiencies of enzymes in the heme biosynthetic pathway. Porphyrias can be classified as either hepatic or erythroid, depending on the major production site of porphyrins or their precursors. The pathogenesis of inherited hepatic porphyrias has now been defined at the molecular level. Some gene carriers are vulnerable to a range of exogenous and endogenous factors, which may trigger neuropsychiatric and/or cutaneous symptoms. Early diagnosis is of prime importance since it makes way for counselling. In this article we present an overview of recent advances on hepatic porphyrias: 5-aminolevulinic acid dehydratase deficiency porphyria, acute intermittent porphyria (AIP), porphyria cutanea tarda (PCT), hereditary coproporphyria (HC), and variegate porphyria (VP).

  20. [Hereditary peripheral neuropathies].

    Science.gov (United States)

    Vallat, Jean-Michel; Tazir, Mériem; Calvo, Judith; Funalot, Benoît

    2009-09-01

    Currently more than 30 genes are known to be responsible for genetically determined neuropathies. Charcot-Marie-Tooth (CMT) disease is the most frequent of these hereditary neuropathies, with a prevalence of 4.7 to 36 per 100 000. In its demyelinating forms (CMT1), approximately 70% of cases are associated with a duplication of the PMP22gene. In its axonal forms (CMT2), 10-20% of the cases may be associated with a mutation of the MFN2gene. For North African patients with recessive transmission, a mutation of the LMNA gene must be sought. It is essential to stress the great variability of the phenotype--clinical, electrophysiological, and histologic--between and within families. A detailed analysis of these criteria, together with consideration of ethnic origin, may guide the search for the causal mutation. Whether the case involves certainly hereditary transmission or a sporadic form, it is desirable to be able to examine the maximum number of the patient's kin, both clinically and electrophysiologically. The forms with recessive transmission usually have a very early onset and are more serious than the dominant forms. The early- and very early-onset forms of CMT are increasingly better distinguished: congenital hypomyelination neuropathy (mutations of PMP22, MPZ or EGR2), or more axonal forms, including SMARD1 (Spinal muscle atrophy with respiratory distress; mutations of IGHMBP2) and EOHMSN (Early-onset hereditary motor and sensory neuropathy; mutations of MFN2). The prevention of cutaneous (ulcerations), bone, and amputation complications is very important in patients with hereditary sensory and autonomic neuropathies, because of the severity of the sensory disorders.

  1. Hereditary breast cancer

    DEFF Research Database (Denmark)

    Larsen, Martin J; Thomassen, Mads; Gerdes, Anne-Marie

    2014-01-01

    Pathogenic mutations in BRCA1 or BRCA2 are only detected in 25% of families with a strong history of breast cancer, though hereditary factors are expected to be involved in the remaining families with no recognized mutation. Molecular characterization is expected to provide new insight into the t......Pathogenic mutations in BRCA1 or BRCA2 are only detected in 25% of families with a strong history of breast cancer, though hereditary factors are expected to be involved in the remaining families with no recognized mutation. Molecular characterization is expected to provide new insight...... into the tumor biology to guide the search of new high-risk alleles and provide better classification of the growing number of BRCA1/2 variants of unknown significance (VUS). In this review, we provide an overview of hereditary breast cancer, its genetic background, and clinical implications, before focusing...... on the pathologically and molecular features associated with the disease. Recent transcriptome and genome profiling studies of tumor series from BRCA1/2 mutation carriers as well as familial non-BRCA1/2 will be discussed. Special attention is paid to its association with molecular breast cancer subtypes as well...

  2. Hereditary neuropathies: An update.

    Science.gov (United States)

    Stojkovic, T

    2016-12-01

    Hereditary neuropathies are the most common inherited neuromuscular diseases. Charcot-Marie-Tooth (CMT) disease represents the most common form with an average prevalence ranging from 1/2500 to 1/1200, depending on the studies. To date and with the advances of the latest generation sequencing, more than 80 genes have been identified. Although the common clinical phenotype comprises a progressive distal muscle weakness and sensory loss, foot deformities and decreased or absent tendon reflexes, clinical and electrophysiological phenotypes exhibit great variability. Moreover, atypical phenotypes are arising, overlapping with spastic paraplegia, hereditary sensory neuropathies or amyotrophic lateral sclerosis. The causative genes are involved in various biological processes such as myelin development and maintenance, biosynthesis and degradation of proteins, neuronal structural maintenance, axonal transport, endocytosis, membrane dynamics, ion-channel function and the mitochondrial network. An accurate genetic diagnosis is important for appropriate genetic counselling and treatment options. Therapeutic advances, particularly small interfering RNA therapy, are encouraging in hereditary transthyretin amyloid neuropathy. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  3. Hereditary erythrocytosis, thrombocytosis and neutrophilia.

    Science.gov (United States)

    Hong, Wan-Jen; Gotlib, Jason

    2014-06-01

    Hereditary erythrocytosis, thrombocytosis, and neutrophilia are rare inherited syndromes which exhibit Mendelian inheritance. Some patients with primary hereditary erythrocytosis exhibit a mutation in the erythropoietin receptor (EPOR) which is associated with low serum erythropoietin (EPO) levels. Secondary congenital erythrocytosis may be characterized by normal or high serum EPO levels, and is related to high oxygen affinity haemoglobin variants, mutation of the enzyme biphosphoglycerate mutase (BPGM), or defects in components of the oxygen-sensing pathway. Hereditary thrombocytosis was first linked to mutations in genes encoding thrombopoietin (THPO) or the thrombopoietin receptor, MPL. More recently, germline mutations in JAK2, distinct from JAK2 V617F, and mutation of the gelsolin gene, were uncovered in several pedigrees of hereditary thrombocytosis. Hereditary neutrophilia has been described in one family with an activating germline mutation in CSF3R. The mutational basis for most hereditary myeloproliferative disorders has yet to be identified. Copyright © 2014. Published by Elsevier Ltd.

  4. Genetics Home Reference: hereditary diffuse gastric cancer

    Science.gov (United States)

    ... Health Conditions hereditary diffuse gastric cancer hereditary diffuse gastric cancer Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly increases ...

  5. Physiologic basis for understanding quantitative dehydration assessment.

    Science.gov (United States)

    Cheuvront, Samuel N; Kenefick, Robert W; Charkoudian, Nisha; Sawka, Michael N

    2013-03-01

    Dehydration (body water deficit) is a physiologic state that can have profound implications for human health and performance. Unfortunately, dehydration can be difficult to assess, and there is no single, universal gold standard for decision making. In this article, we review the physiologic basis for understanding quantitative dehydration assessment. We highlight how phenomenologic interpretations of dehydration depend critically on the type (dehydration compared with volume depletion) and magnitude (moderate compared with severe) of dehydration, which in turn influence the osmotic (plasma osmolality) and blood volume-dependent compensatory thresholds for antidiuretic and thirst responses. In particular, we review new findings regarding the biological variation in osmotic responses to dehydration and discuss how this variation can help provide a quantitative and clinically relevant link between the physiology and phenomenology of dehydration. Practical measures with empirical thresholds are provided as a starting point for improving the practice of dehydration assessment.

  6. Hereditary angioedema in women

    Directory of Open Access Journals (Sweden)

    Bouillet Laurence

    2010-07-01

    Full Text Available Abstract Women with hereditary angioedema (HAE are more likely to be symptomatic that men. Hormonal factors (puberty, contraception, pregnancy,.... play a significant role in the precipitation or worsening of the condition in women. So, combined contraceptive pills are not indicated and progestogen pill must be preferred. During pregnancy, attack rate can increase (38-48% of women. C1Inhibitor concentrate and tranexamic acid can be used during pregnancy. Attenuated androgens for long term prophylaxis are effective but side effects appear more often in female patients. These side effects are dose dependant and can be attenuated by titrating the dose down the lowest effective level.

  7. HFE-associated hereditary hemochromatosis

    NARCIS (Netherlands)

    Eijkelkamp, EJ; Yapp, TR; Powell, LW

    2000-01-01

    Hereditary hemochromatosis is a common inherited disorder of the iron metabolism Screening studies indicate that it has a prevalence of one in 200 to 400, depending on the population studied, and a carrier rate of about one in seven to one in 10. Feder et al identified the hereditary hemochromatosis

  8. Dehydration: physiology, assessment, and performance effects.

    Science.gov (United States)

    Cheuvront, Samuel N; Kenefick, Robert W

    2014-01-01

    This article provides a comprehensive review of dehydration assessment and presents a unique evaluation of the dehydration and performance literature. The importance of osmolality and volume are emphasized when discussing the physiology, assessment, and performance effects of dehydration. The underappreciated physiologic distinction between a loss of hypo-osmotic body water (intracellular dehydration) and an iso-osmotic loss of body water (extracellular dehydration) is presented and argued as the single most essential aspect of dehydration assessment. The importance of diagnostic and biological variation analyses to dehydration assessment methods is reviewed and their use in gauging the true potential of any dehydration assessment method highlighted. The necessity for establishing proper baselines is discussed, as is the magnitude of dehydration required to elicit reliable and detectable osmotic or volume-mediated compensatory physiologic responses. The discussion of physiologic responses further helps inform and explain our analysis of the literature suggesting a ≥ 2% dehydration threshold for impaired endurance exercise performance mediated by volume loss. In contrast, no clear threshold or plausible mechanism(s) support the marginal, but potentially important, impairment in strength, and power observed with dehydration. Similarly, the potential for dehydration to impair cognition appears small and related primarily to distraction or discomfort. The impact of dehydration on any particular sport skill or task is therefore likely dependent upon the makeup of the task itself (e.g., endurance, strength, cognitive, and motor skill).

  9. In situ dehydration of yugawaralite

    DEFF Research Database (Denmark)

    Artioli, G.; Ståhl, Kenny; Cruciani, G.;

    2001-01-01

    The structural response of the natural zeolite yugawaralite (CaAl2Si6O16. 4H(2)O) upon thermally induced dehydration has been studied by Rietveld analysis of temperature-resolved powder diffraction data collected in situ in the temperature range 315-791 K using synchrotron radiation. The room-tem...

  10. Hypernatremic Dehydration in Breastfed Infants

    Directory of Open Access Journals (Sweden)

    Hacer Ergin

    2013-08-01

    Full Text Available Introduction: Since it can cause life-threatening complications in newborns, diagnosis and treatment of hypernatremic dehydration associated with inadequate breastfeeding is important.Materials and Methods: Records of exclusively-breastfed newborns (37-42 weeks with hypernatremic dehydration (serum Na ≥150mEq/L admitted between 2006 and 2012 were reviewed retrospectively.Results: The mean gestational age, birth weight, weight loss, maternal age, and age at diagnosis of 26 newborns with hypernatremic dehydration were 38.8±1.1 weeks, 3292±458 gr, 13.5±5.5%, 27.6±4.9 years, and 3.9±3.5 days, respectively. The percentages of female patients, caesarean delivery, and primipar mothers were 57.6%, 61.6%, and 57.6% respectively. Admission complaints were fever (30.7%, poor feeding and jaundice (26.9%, restlessness and hypoactivity (7.6%. Hypernatremic dehydration frequency within first five days, in summer season, during hospitalization were 84.6%, 73%, and 42.3%, respectively. The mean serum BUN, creatinine, Na levels were found 45.6±64.1 mg/dl, 1.5±2.3mg/dl, and 157±11.9 mEq/L, respectively. Of 26 mothers, 57.6% had received breastfeeding education and 84% had inadequate fluid intake. Among four patients with seizures, three had prerenal failure, one had renal failure requiring dialysis, and brain edema developed in one. Serum Na levels were higher in infants who were baby of primipar mother (p=0.002, born in another hospital (p=0.012, from young mothers (p=0.035, from mothers with no breastfeeding education (p=0.007, and with delayed hospital admission (p<0.01. Serum Na concentrations ≥160mEq/L were associated with complications (p<0.01. Serum Na levels were negatively correlated with maternal age (p=0.035 and positively correlated with (p=0.016 weight loss.Conclusions: Hypernatremic dehydration can be prevented in newborns by close monitoring of weight loss and by teaching successful breastfeeding techniques and signs of dehydration to

  11. Effect of leaf dehydration duration and dehydration degree on PSII photochemical activity of papaya leaves.

    Science.gov (United States)

    Liu, Meijun; Zhang, Zishan; Gao, Huiyuan; Yang, Cheng; Fan, Xingli; Cheng, Dandan

    2014-09-01

    Although the effect of dehydration on photosynthetic apparatus has been widely studied, the respective effect of dehydration duration and dehydration degree was neglected. This study showed that, when leaves dehydrated in air, the PSII activities of leaves decreased with the decline of leaf relative water content (RWC). Unexpectedly, when leaves dehydrated to same RWC, the decreases in Fv/Fm, Ψo and RC/CSm were lower in leaves dehydrating at 43 °C than those at 25 °C. However, to reach the same RWC, leaves dehydrating at 43 °C experienced 1/6 of the dehydration duration for leaves dehydrating at 25 °C. To distinguish the respective effect of dehydration degree and dehydration duration on photosynthetic apparatus, we studied the PSII activities of leaves treated with different concentration of PEG solutions. Increasing dehydration degree aggravated the decline of Fv/Fm, Ψo and RC/CSm in leaves with the same dehydration duration, while prolonging the dehydration duration also exacerbated the decline of Fv/Fm, Ψo and RC/CSm in leaves with identical dehydration degree. With the same dehydration degree and duration, high temperature enhanced the decrease of Fv/Fm, Ψo and RC/CSm in the leaves. When leaves dehydrated in air, the effect of high temperature was underestimated due to reduction of dehydration duration. The results demonstrated that, dehydration degree and duration both play important roles in damage to photosynthetic apparatus. We suggest that, under combined stresses, the effects of dehydration degree and duration on plants should be considered comprehensively, otherwise, partial or incorrect results may be obtained.

  12. Hereditary angioedema: Not an allergy

    Directory of Open Access Journals (Sweden)

    Sanjay Bhivgade

    2012-01-01

    Full Text Available Hereditary angioedema is a genetic disorder due to a deficiency or malfunction of C1 esterase inhibitor. We herein describe a case of 25-year-old male who presented with swelling over face since one day. There was history of similar episodes since two years with gradual subsidence of swelling without any treatment. Investigations revealed grossly reduced complement C4 and C1 esterase inhibitor level. Patient was diagnosed to have hereditary angioedema type 1 and started on stanozolol 2 mg three times a day with no recurrence in one year of follow-up. Hereditary angioedema resembles angioedema of an allergic reaction. However, the cause is different.

  13. Hereditary colorectal cancer diagnostics

    DEFF Research Database (Denmark)

    Klarskov, Louise; Holck, Susanne; Bernstein, Inge

    2012-01-01

    BackgroundThe hereditary non-polyposis colorectal cancer (HNPCC) subset of tumours can broadly be divided into tumours caused by an underlying mismatch-repair gene mutation, referred to as Lynch syndrome, and those that develop in families with similar patterns of heredity but without disease......-predisposing germline mismatch repair mutations, referred to as familial colorectal cancer type X (FCCTX). Recognition of HNPCC-associated colorectal cancers is central since surveillance programmes effectively reduce morbidity and mortality. The characteristic morphological features linked to Lynch syndrome can aid...... in the identification of this subset, whereas the possibility to use morphological features as an indicator of FCCTX is uncertain.Objective and methodsTo perform a detailed morphological evaluation of HNPCC-associated colorectal cancers and demonstrate significant differences between tumours associated with FCCTX...

  14. [Leber's hereditary optic neuropathy].

    Science.gov (United States)

    Leo-Kottler, B; Wissinger, B

    2011-12-01

    Leber's hereditary optic neuropathy (LHON) is a rare disease primarily affecting the retinal ganglion cells. In most cases patients with LHON develop permanent visual loss with a large central scotoma in the visual field of both eyes. The optic disc becomes partially or completely pale. At the onset of the disease many patients are considered to suffer from an optic neuritis and are treated under the diagnostic and therapeutic regimen of optic neuritis. LHON is mostly only considered when high dose cortisone therapy fails to be effective or the second eye is affected. Thereafter, molecular genetic analysis will prove LHON in these cases. Detailed anamnesis including pedigree analysis in combination with observance of the peripapillary microangiopathic alterations at the fundus will help to speed up the diagnosis of LHON, but even after exact clinical and molecular genetic diagnosis of LHON some aspects of the disease still remain a mystery today.

  15. Hereditary neuromuscular diseases

    Energy Technology Data Exchange (ETDEWEB)

    Oezsarlak, O. E-mail: ozkan.ozsarlak@uza.be; Schepens, E.; Parizel, P.M.; Goethem, J.W. van; Vanhoenacker, F.; Schepper, A.M. de; Martin, J.J

    2001-12-01

    This article presents the actual classification of neuromuscular diseases based on present expansion of our knowledge and understanding due to genetic developments. It summarizes the genetic and clinical presentations of each disorder together with CT findings, which we studied in a large group of patients with neuromuscular diseases. The muscular dystrophies as the largest and most common group of hereditary muscle diseases will be highlighted by giving detailed information about the role of CT and MRI in the differential diagnosis. The radiological features of neuromuscular diseases are atrophy, hypertrophy, pseudohypertrophy and fatty infiltration of muscles on a selective basis. Although the patterns and distribution of involvement are characteristic in some of the diseases, the definition of the type of disease based on CT scan only is not always possible.

  16. Hereditary Elliptocytosis with Pyropoikilocytosis

    Directory of Open Access Journals (Sweden)

    Turan Bayhan

    2016-03-01

    Full Text Available A 17-day-old boy was admitted because of jaundice and anemia. He was born weighing 2900 g subsequent to a term gestation as the fourth child of first-degree cousin parents. The previous history revealed the administration of phototherapy for 4 days starting from the first day of life. Complete blood count revealed hemoglobin (Hb of 6.9 g/dL, hematocrit of 19.8%, mean corpuscular volume (MCV of 87.5 fL, red cell distribution width (RDW of 37%, white blood cell count of 11.4x109/L, and platelet count of 263x109/L. Corrected reticulocyte count was 5.3%. Peripheral blood smear revealed polychromasia and pyropoikilocytosis. Direct antibody test was negative. Erythrocyte glucose-6-phosphate dehydrogenase, pyruvate kinase, and pyrimidine 5’ nucleotidase levels were normal. An erythrocyte transfusion was administered with a diagnosis of non-immune hemolytic anemia and the patient was discharged at the 26th day of life with initiation of folic acid. During his outpatient followup, he required erythrocyte transfusions 2 more times and the last transfusion was performed when he was 3 months old. At a visit 3 months after the last transfusion, his blood count was as follows: Hb of 9.5 g/dL, hematocrit of 28.2%, MCV of 68.2 fL, and RDW of 30.5%. Erythrocyte osmotic fragility was found to be normal and Hb electrophoresis revealed Hb F of 6.6% and Hb A2 of 1.7%. Upon physical examination he had mild jaundice and no splenomegaly. The parents’ blood counts were within normal ranges. Peripheral blood smear revealed prominent elliptocytes and occasional microcytic and fragmented erythrocytes with poikilocytosis (Figure 1. The clinical findings and laboratory results were diagnostic for the hereditary pyropoikilocytosis (HPP type of hereditary elliptocytosis (HE, but in vitro fragmentation testing was not performed

  17. [Hereditary phaeochromocytoma in twins].

    Science.gov (United States)

    Tóth, Géza; Patócs, Attila; Tóth, Miklós

    2016-08-01

    Phaeochromocytoma is a tumor of the catecholamine-producing cells of the adrenal gland. Extraadrenal phaeochromocytomas are frequently called paragangliomas. The majority of phaeochromocytomas are sporadic, however, about 25-30% are caused by genetic mutation. These tumor are frequently referred as hereditary phaeochromocytomas/paragangliomas. Their incidence increases continuously which can be attributed to availability of genetic examination and to the discovery of novel genes. The 47-year-old female patient underwent abdominal computed tomography which revealed bilateral adrenal gland enlargement. Abdominal magnetic resonance imaging, the 131-I- metaiodobenzylguanidine scintigraphy, urinary catecholamines and serum chomogranin A measurements confirmed the diagnosis of bilateral phaeochromocytomas. The genetically identical twin sister of the patient was also diagnosed with hormonally active bilateral phaechromocytoma, suggesting the genetic origin of phaeochromocytoma. Mutation screening confirmed a germline mutation of the transmembrane protein 127 tumorsupressor gene in both patients. Both patients underwent cortical-sparing adrenalectomy. The adrenal gland with the larger tumor was totally resected, while in the opposite side only the tumor was resected and a small part of the cortex was saved. After the operation urinary catecholamines and serum chromogranin A returned to normal in both patients. Adrenocortical deficiency was absent in the first patient, but her sister developed adrenal insufficiency requiring glucocorticoid replacement. To the best of the authors' knowledge phaeochromocytoma affecting twins has never been described earlier. Genetic examination performed in siblings confirmed the presence of the mutant gene through four generations. Orv. Hetil., 2016, 157(33), 1326-1330.

  18. [Advances in hereditary hemochromatosis].

    Science.gov (United States)

    Nardi, Graciela; Cadiz, Claudia; Lachman, J; Cornelio, Cecilia

    2003-01-01

    Hereditary hemocromatosis (HH) is a genetic disease with a recessive autosomic pattern, in which inadequate iron (Fe) absorption is made by the intestinal cell. As consequence of that process, takes place a progressive accumulation of metal in different organs, predominantly in the liver. This leads to an alteration of liver structure and function: cirrhosis and hepatocarcinoma (1). The gene implied in this pathology was identified (HFE) in 1996. This codes a similar molecule to the mayor histocompatibility complex type 1(MHC-T1 like) that can modulate the transport of PE binding the transferrin receptor. This progress allows a deep understanding of the molecular and cellular biology of the homeostasis of the Fe and its alterations in the NH. The diagnosis of disease by means of a genetic test let to carry out a familiar screening and to detect asymptomatic carriers. This makes possible to begin the appropriate treatment at early stages of the disease in order to avoid its consequences and offering a better quality of life to these patients.

  19. Adult hereditary fructose intolerance

    Institute of Scientific and Technical Information of China (English)

    Mohamed Ismail Yasawy; Ulrich Richard Folsch; Wolfgang Eckhard Schmidt; Michael Schwend

    2009-01-01

    Hereditary fructose intolerance (HFI) is an underrecognized,preventable life-threatening condition. It is an autosomal recessive disorder with subnormal activity of aldolase B in the liver, kidney and small bowel. Symptoms are present only after the ingestion of fructose, which leads to brisk hypoglycemia, and an individual with continued ingestion will exhibit vomiting,abdominal pain, failure to thrive, and renal and liver failure. A diagnosis of HFI was made in a 50-year-old woman on the basis of medical history, response to Ⅳ fructose intolerance test, demonstration of aldolase B activity reduction in duodenal biopsy, and molecular analysis of leukocyte DNA by PCR showed homozygosity for two doses of mutant gene. HFI may remain undiagnosed until adult life and may lead to disastrous complications following inadvertent fructose or sorbitol infusion. Several lethal episodes of HFI following sorbitol and fructose infusion have been reported. The diagnosis can only be suspected by taking a careful dietary history, and this can present serious complications.

  20. Adult hereditary fructose intolerance.

    Science.gov (United States)

    Yasawy, Mohamed Ismail; Folsch, Ulrich Richard; Schmidt, Wolfgang Eckhard; Schwend, Michael

    2009-05-21

    Hereditary fructose intolerance (HFI) is an under-recognized, preventable life-threatening condition. It is an autosomal recessive disorder with subnormal activity of aldolase B in the liver, kidney and small bowel. Symptoms are present only after the ingestion of fructose, which leads to brisk hypoglycemia, and an individual with continued ingestion will exhibit vomiting, abdominal pain, failure to thrive, and renal and liver failure. A diagnosis of HFI was made in a 50-year-old woman on the basis of medical history, response to IV fructose intolerance test, demonstration of aldolase B activity reduction in duodenal biopsy, and molecular analysis of leukocyte DNA by PCR showed homozygosity for two doses of mutant gene. HFI may remain undiagnosed until adult life and may lead to disastrous complications following inadvertent fructose or sorbitol infusion. Several lethal episodes of HFI following sorbitol and fructose infusion have been reported. The diagnosis can only be suspected by taking a careful dietary history, and this can present serious complications.

  1. Thermal dehydration kinetics of phosphogypsum

    Directory of Open Access Journals (Sweden)

    López, F. A.

    2015-09-01

    Full Text Available Phsophogypsum is a by-product from the processing phosphate rock. Before the use of it in cement industry such as setting regulator is necessary a study of dehydration reaction of phosphogypsum to avoid the false setting during the milling. The aim is to study the thermal behavior of two different phosphogypsum sources (Spain and Tunisia under non-isothermal conditions in argon atmosphere by using Thermo-Gravimetriy, Differential Thermal Analysis (TG-DTA and Differential Scanning Calorimetry (DSC. DSC experiments were carried out at temperatures ranging from ambient to 350 °C at different heating rates. The temperatures of conversion from gypsum to hemihydrate and anhydrite states and heat of dehydration were determined. Various methods were used to analyze the DSC data for reaction kinetics determination. The activation energy and frequency factor were calculated for dehydration of phosphogypsum. Activation energy values of the main dehydration reaction of phosphogypsum were calculated to be approximately 61–118 kJ/mol.El fosfoyeso es un subproducto procedente del procesado de la roca fosfato. Una de las posibles vías de reutilización y revalorización es su uso como regulador del fraguado en la industria cementera. Debido a los posibles problemas de falso fraguado asociado a los procesos de deshidratación que tienen lugar durante la molienda del cemento, esta investigación estudió el comportamiento térmico, bajo condiciones no-isotérmicas en atmósfera de argón, de dos fosfoyesos, mediante TG-DTA y DSC. Los ensayos de DSC se realizaron hasta los 350 °C a diferentes velocidades de calentamiento. La temperatura de conversión del yeso a las formas de hemihidrato y anhidrita y el calor de hidratación fueron determinados. Las cinéticas de reacción fueron obtenidas analizando los datos de DSC mediante varios métodos. Se calculó la energía de activación y el factor de frecuencia para las reacciones de deshidratación del

  2. Treatment of hereditary optic neuropathies.

    Science.gov (United States)

    Newman, Nancy J

    2012-10-01

    The hereditary optic neuropathies are inherited disorders in which optic nerve dysfunction is a prominent feature in the phenotypic expression of disease. Optic neuropathy may be primarily an isolated finding, such as in Leber hereditary optic neuropathy and dominant optic atrophy, or part of a multisystem disorder. The pathophysiological mechanisms underlying the hereditary optic neuropathies involve mitochondrial dysfunction owing to mutations in mitochondrial or nuclear DNA that encodes proteins essential to mitochondrial function. Effective treatments are limited, and current management includes therapies directed at enhancing mitochondrial function and preventing oxidative damage, as well as genetic counselling, and supportive and symptomatic measures. New therapies, including gene therapy, are emerging via animal models and human clinical trials. Leber hereditary optic neuropathy, in particular, provides a unique model for testing promising treatments owing to its characteristic sequential bilateral involvement and the accessibility of target tissue within the eye. Lessons learned from treatment of the hereditary optic neuropathies may have therapeutic implications for other disorders of presumed mitochondrial dysfunction. In this Review, the natural history of the common inherited optic neuropathies, the presumed pathogenesis of several of these disorders, and the literature to date regarding potential therapies are summarized.

  3. Hereditary pancreatitis: current perspectives

    Directory of Open Access Journals (Sweden)

    Raphael KL

    2016-07-01

    Full Text Available Kara L Raphael, Field F Willingham Division of Digestive Diseases, Department of Medicine, Emory University School of Medicine, Atlanta, GA, USA Abstract: Hereditary pancreatitis (HP is a rare cause of acute, recurrent acute, and chronic pancreatitis. It may present similarly to other causes of acute and chronic pancreatitis, and often there has been a protracted evaluation prior to the diagnosis of HP. Since it was first described in 1952, multiple genetic defects that affect the action of digestive enzymes in the pancreas have been implicated. The most common mutations involve the PRSS1, CFTR, SPINK1, and CTRC genes. New mutations in these genes and previously unrecognized mutations in other genes are being discovered due to the increasing use of next-generation genomic sequencing. While the inheritance pathways of these genetic mutations may be variable and complex, sometimes involving coinheritance of other mutations, the clinical presentation of patients tends to be similar. Interactions with environmental triggers often play a role. Patients tend to present at an early age (prior to the second decade of life and have a significantly increased risk for the development of pancreatic adenocarcinoma. Patients with HP may develop sequelae of chronic pancreatitis such as strictures and fluid collections as well as exocrine and endocrine insufficiency. Management of patients with HP involves avoidance of environmental triggers, surveillance for pancreatic adenocarcinoma, medical therapy for endocrine and exocrine insufficiency, pain management, and endoscopic or surgical treatment for complications. Care for affected patients should be individualized, with an emphasis on early diagnosis and multidisciplinary involvement to develop a comprehensive treatment strategy. Keywords: pancreatic cancer, chronic pancreatitis, idiopathic pancreatitis, pancreatitis, familial pancreatitis, genetic mutations

  4. Fruit-induced FPIES masquerading as hereditary fructose intolerance.

    Science.gov (United States)

    Fiocchi, Alessandro; Dionisi-Vici, Carlo; Cotugno, Giovanna; Koch, Pierluigi; Dahdah, Lamia

    2014-08-01

    Hereditary fructose intolerance (HFI) symptoms develop at first introduction of fruit during weaning. We report on an infant with suspected HFI who presented with repeated episodes of vomiting and hypotension after ingestion of fruit-containing meals. The first episode occurred at age 4 months. Despite negative genetic testing for HFI, strict avoidance of fruit ingestion resulted in lack of recurrence of symptoms. Oral-fructose-tolerance testing conducted with an apple mousse did not determine hypoglycemia or fructosuria but caused severe hypotension. Allergy evaluations were negative, and the history was diagnostic for fruit-induced food protein-induced enterocolitis syndrome. Because this non-immunoglobulin E-mediated gastrointestinal food hypersensitivity manifests as profuse, repetitive vomiting, often with diarrhea, leading to acute dehydration and lethargy, it may be misinterpreted as HFI. We advise pediatricians to consider food protein-induced enterocolitis syndrome in the differential diagnosis when there is a suspicion of HFI.

  5. An update on hereditary angioedema.

    Science.gov (United States)

    Verdi, Marylee; Shaker, Marcus

    2011-01-01

    Hereditary angioedema affects approximately 1 in 50,000 individuals without gender or ethnic preference. Hereditary angioedema is caused by a decreased level (type I) or function (type II) of C1 inhibitor. Patients experience repeated episodes of angioedema involving sites that include the face, extremities, gastrointestinal tract, and larynx. Treatment involves measures to increase functioning levels of active C1 inhibitor through stimulation of endogenous pathways or exogenous supplementation. Additional therapies targeted at inhibition of bradykinin can also be used to treat episodes of angioedema. Treatment may be indicated for both acute episodes of angioedema and prevention of future episodes.

  6. Exclusively Breastfeeding and Hypernatremic Dehydration

    Directory of Open Access Journals (Sweden)

    MK Çağlar

    2005-08-01

    Full Text Available There is no doubt that breast-feeding is the best and safest way of feeding infants. Physiological weight loss occurs in the first two or three days of life, and the achievement of birth weight is expected towards the end of the first week. Hypernatremic dehydration may occur in exclusively breast-fed infants if milk supply is low during these first few days. It is not because of the high sodium content in breast milk; it is because of insufficient lactation. That is, the main cause of hypernatremic dehydration is water deprivation. There are many causes for low milk intake. Since most causes are preventable or able to be improved, mothers, particularly first time mothers, should receive more reassurance and practical advice in the technique of breast-feeding. Before their discharge from the hospital, they should be educated about the associated features of unsuccessful breast-feeding, such as going to the breast infrequently or for short times, infrequent passage of urine and stool, jaundice, lethargy, irritability and fever. Late diagnosis may cause catastrophic outcomes, such as a variety of palsies, apnea, bradycardia, seizures, hypertension, disseminated intravascular coagulation, necrotising enterocolitis after establishing full oral feeds, amputation of an extremity secondary to arterial thrombus, multiple cerebral infarctions, intracranial hemorrhages, massive intra ventricular hemorrhage, multiple dural thromboses. If babies are weighed on the day of the Guthrie test, those in the early onset of a disease and those who could not achieve their birth weight can be easily identified. The latter should be closely followed.

  7. Histology of hereditary neuralgic amyotrophy.

    NARCIS (Netherlands)

    Alfen, N. van; Gabreëls-Festen, A.A.W.M.; Laak, H.J. ter; Arts, W.F.M.; Gabreëls, F.J.M.; Engelen, B.G.M. van

    2005-01-01

    We report the findings in five muscle and three sural nerve biopsies, and in one postmortem plexus specimen, from six patients with hereditary neuralgic amyotrophy (HNA). We found that the sensory nerves are definitely involved in HNA despite the mainly motor symptoms, and that lesions in nerves and

  8. [Hereditary fructose intolerance (author's transl)].

    Science.gov (United States)

    Thanner, F

    1977-07-01

    Hereditary fructose intolerance (HFI) is the most important disturbance in human fructose metabolism. This paper deals with the present knowledge of biochemistry and pathophysiology of this inborn error of metabolism, which is often wrongly diagnosed and gives a detailed description of diagnostic and therapeutic procedures.

  9. Hereditary skin diseases of hemidesmosomes

    NARCIS (Netherlands)

    Jonkman, MF

    1999-01-01

    Studies of hereditary blistering skin diseases (epidermolysis bullosa) and targeted gene mutation experiments in knockout mice have greatly improved our understanding of hemidesmosomes and their associated structures in the cytoskeleton and basement membrane of the skin and mucous membranes. At leas

  10. Drug therapy for hereditary cancers

    Directory of Open Access Journals (Sweden)

    Imyanitov Evgeny N

    2011-08-01

    Full Text Available Abstract Tumors arising in patients with hereditary cancer syndromes may have distinct drug sensitivity as compared to their sporadic counterparts. Breast and ovarian neoplasms from BRCA1 or BRCA2 mutation carriers are characterized by deficient homologous recombination (HR of DNA, that makes them particularly sensitive to platinum compounds or inhibitors of poly (ADP-ribose polymerase (PARP. Outstandingly durable complete responses to high dose chemotherapy have been observed in several cases of BRCA-related metastatic breast cancer (BC. Multiple lines of evidence indicate that women with BRCA1-related BC may derive less benefit from taxane-based treatment than other categories of BC patients. There is virtually no reports directly assessing drug response in hereditary colorectal cancer (CRC patients; studies involving non-selected (i.e., both sporadic and hereditary CRC with high-level microsatellite instability (MSI-H suggest therapeutic advantage of irinotecan. Celecoxib has been approved for the treatment of familial adenomatous polyposis (FAP. Hereditary medullary thyroid cancers (MTC have been shown to be highly responsive to a multitargeted tyrosine kinase inhibitor vandetanib, which exerts specific activity towards mutated RET receptor. Given the rapidly improving accessibility of DNA analysis, it is foreseen that the potential predictive value of cancer-associated germ-line mutations will be increasingly considered in the future studies.

  11. Genetics of Hereditary Angioedema Revisited.

    Science.gov (United States)

    Germenis, Anastasios E; Speletas, Matthaios

    2016-10-01

    Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing data have also recently been published indicating that the clinical heterogeneity of hereditary angioedema due to C1 inhibitor deficiency (classified as C1-INH-HAE) could be attributed at least in part, either to the type of SERPING1 mutations or to mutations in genes encoding for enzymes involved in the metabolism and function of bradykinin. Alterations detected in at least one more gene (F12) are nowadays considered responsible for 25 % of cases of hereditary angioedema with normal C1-INH (type III hereditary angioedema (HAE), nlC1-INH-HAE). Interesting data derived from genetic approaches of non-hereditary angioedemas indicate that other immune pathways might be implicated in the pathogenesis of HAE. More than 125 years after the recognition of the hereditary nature of HAE by Osler, the heterogeneity of clinical expressions, the genetics of this disorder, and the genotype-phenotype relationships, still presents a challenge that will be discussed in this review. Large scale, in-depth genetic studies are expected not only to answer these emerging questions but also to further elucidate many of the unmet aspects of angioedema pathogenesis. Uncovering genetic biomarkers affecting the severity of the disease and/or the effectiveness of the various treatment modalities might lead to the prevention of attacks and the optimization of C1-INH-HAE management that is expected to provide a valuable benefit to the sufferers of angioedema.

  12. New treatments of hereditary blindness

    DEFF Research Database (Denmark)

    Bertelsen, Mette; Rosenberg, Thomas; Larsen, Michael

    2013-01-01

    Ongoing clinical trials are targeting several previously intractable hereditary causes of blindness of congenital, childhood or early adulthood onset, mainly in the optic nerve and retina. The intended stage of initiation of the new therapeutic approaches ranges from neonatal life and a structura......Ongoing clinical trials are targeting several previously intractable hereditary causes of blindness of congenital, childhood or early adulthood onset, mainly in the optic nerve and retina. The intended stage of initiation of the new therapeutic approaches ranges from neonatal life...... and a structurally intact retinal tissue to adult life with a complete loss of photoreceptors. It must be assumed that some of the trials will succeed in producing new therapies and action must be taken to refine and accelerate diagnostics and to preserve therapeutic potential in blind people....

  13. Physiologic Basis for Understanding Quantitative Dehydration Assessment

    Science.gov (United States)

    2012-01-01

    Quantitative Dehydration Sb. GRANT NUMBER Assessment Sc. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) Sd. PROJECT NUMBER Samuel Cheuvront; Robert Kenefick; Nisha...of the statistical prob- ability for dehydration. Semantic descriptors provide a scale that aligned with statistical probability to communicate the...cryoscopy. JAMA 1968;205:506–12. 30. Mange K, Matsuura D, Cizman B, Soto H, Ziyadeh FN, Goldfarb S, Neilson EG. Language guiding therapy: the case of

  14. Dehydration processes using membranes with hydrophobic coating

    Science.gov (United States)

    Huang, Yu; Baker, Richard W; Aldajani, Tiem; Ly, Jennifer

    2013-07-30

    Processes for removing water from organic compounds, especially polar compounds such as alcohols. The processes include a membrane-based dehydration step, using a membrane that has a dioxole-based polymer selective layer or the like and a hydrophilic selective layer, and can operate even when the stream to be treated has a high water content, such as 10 wt % or more. The processes are particularly useful for dehydrating ethanol.

  15. Rehydration with soft drink-like beverages exacerbates dehydration and worsens dehydration-associated renal injury.

    Science.gov (United States)

    García-Arroyo, Fernando E; Cristóbal, Magdalena; Arellano-Buendía, Abraham S; Osorio, Horacio; Tapia, Edilia; Soto, Virgilia; Madero, Magdalena; Lanaspa, Miguel A; Roncal-Jiménez, Carlos; Bankir, Lise; Johnson, Richard J; Sánchez-Lozada, Laura-Gabriela

    2016-07-01

    Recurrent dehydration, such as commonly occurs with manual labor in tropical environments, has been recently shown to result in chronic kidney injury, likely through the effects of hyperosmolarity to activate both vasopressin and aldose reductase-fructokinase pathways. The observation that the latter pathway can be directly engaged by simple sugars (glucose and fructose) leads to the hypothesis that soft drinks (which contain these sugars) might worsen rather than benefit dehydration associated kidney disease. Recurrent dehydration was induced in rats by exposure to heat (36°C) for 1 h/24 h followed by access for 2 h to plain water (W), a 11% fructose-glucose solution (FG, same composition as typical soft drinks), or water sweetened with noncaloric stevia (ST). After 4 wk plasma and urine samples were collected, and kidneys were examined for oxidative stress, inflammation, and injury. Recurrent heat-induced dehydration with ad libitum water repletion resulted in plasma and urinary hyperosmolarity with stimulation of the vasopressin (copeptin) levels and resulted in mild tubular injury and renal oxidative stress. Rehydration with 11% FG solution, despite larger total fluid intake, resulted in greater dehydration (higher osmolarity and copeptin levels) and worse renal injury, with activation of aldose reductase and fructokinase, whereas rehydration with stevia water had opposite effects. In animals that are dehydrated, rehydration acutely with soft drinks worsens dehydration and exacerbates dehydration associated renal damage. These studies emphasize the danger of drinking soft drink-like beverages as an attempt to rehydrate following dehydration.

  16. An overview of hereditary pancreatitis.

    Science.gov (United States)

    Rebours, Vinciane; Lévy, Philippe; Ruszniewski, Philippe

    2012-01-01

    Hereditary pancreatitis is a rare cause of chronic pancreatitis. The prevalence was evaluated to 0.3/100000 in Western Countries. Genetic disorders are due to mutations of the PRSS1 gene on the long arm of the chromosome 7, encoding for the cationic trypsinogen. The inheritance pattern is autosomal dominant with an incomplete penetrance (80%). Since 1996, more than 30 mutations were found. The three more common mutations are R122H, N29I and A16V. First symptoms begin since childhood, mainly before 10 years old. Main symptoms are pancreatic pain and acute pancreatitis (>70%). CP morphological changes as pancreatic calcifications are diagnosed at a median age of 22-25 years. Exocrine and endocrine pancreatic insufficiency occurred in 34% and 26% at a median age of 29 and 38 years. No clinical differences exist according to the mutation type. No excess of mortality in hereditary pancreatitis population compared to general population was found, despite a real risk of cancer. The cumulative risks of pancreatic cancer at 50, 60 and, 75 years are 10%, 18.7% and, 53.5%, respectively. The relative risk of cancer increases in smokers and is evaluated to 8.55. Hereditary pancreatitis diagnosis permits to propose an adapted management in expert centres.

  17. 21 CFR 73.40 - Dehydrated beets (beet powder).

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 1 2010-04-01 2010-04-01 false Dehydrated beets (beet powder). 73.40 Section 73... LISTING OF COLOR ADDITIVES EXEMPT FROM CERTIFICATION Foods § 73.40 Dehydrated beets (beet powder). (a) Identity. (1) The color additive dehydrated beets is a dark red powder prepared by dehydrating...

  18. Hereditary angioedema may not be the only cause of abdominal pain in patients with hereditary angioedema!

    OpenAIRE

    Ozgur Kartal; Sevket Arslan; Mustafa Gulec; Ahmet Zafer Caliskaner; Abdullah Baysan; Nail Ersoz; Ugur Musabak; Osman Sener

    2016-01-01

    Abdominal pain is one of the basic clinical presentations of the hereditary angioedema and danazol is a common medicine which has been used for long years in patients with hereditary angioedema. We present two hereditary angioedema patients with abdominal pain albeit under danazol treatment, whose final diagnoses was colon carcinoma. There are two consequences in this article which shall be insisted on: First; in patients with hereditary angioedema, the differential diagnosis of and ldquo;ab...

  19. Genetics Home Reference: hereditary antithrombin deficiency

    Science.gov (United States)

    ... Merck Manual Home Edition for Patients and Caregivers: Thrombophilia National Blood Clot Alliance: Antithrombin Deficiency Orphanet: Hereditary thrombophilia due to congenital antithrombin deficiency Patient Support and ...

  20. Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema

    DEFF Research Database (Denmark)

    Andersen, Michelle Fog; Bygum, Anette

    2015-01-01

    Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does...... however not always have to be caused by angioedema but can relate to other concomitant disorders. In this report we are focusing on misdiagnosis in a patient with known hereditary angioedema, whose bleeding episode caused by idiopathic thrombocytopenic purpura was mistaken for an acute attack...... of hereditary angioedema. The case illustrates how clinicians can have difficulties in handling patients with rare diseases, especially in the emergency care setting....

  1. Genetics Home Reference: hereditary fructose intolerance

    Science.gov (United States)

    ... Additional Information & Resources MedlinePlus (2 links) Encyclopedia: Hereditary Fructose Intolerance Health Topic: Carbohydrate Metabolism Disorders Genetic and Rare Diseases Information Center (1 ...

  2. Hereditary breast and ovarian cancer

    DEFF Research Database (Denmark)

    Nielsen, Finn Cilius; Hansen, Thomas van Overeem; Sørensen, Claus Storgaard

    2016-01-01

    Genetic abnormalities in the DNA repair genes BRCA1 and BRCA2 predispose to hereditary breast and ovarian cancer (HBOC). However, only approximately 25% of cases of HBOC can be ascribed to BRCA1 and BRCA2 mutations. Recently, exome sequencing has uncovered substantial locus heterogeneity among...... affected families without BRCA1 or BRCA2 mutations. The new pathogenic variants are rare, posing challenges to estimation of risk attribution through patient cohorts. In this Review article, we examine HBOC genes, focusing on their role in genome maintenance, the possibilities for functional testing...... of putative causal variants and the clinical application of new HBOC genes in cancer risk management and treatment decision-making....

  3. Two cases of hereditary fructose intolerance.

    Science.gov (United States)

    Ananth, N; Praveenkumar, G S; Rao, K Aravind; Vasanthi; Kakkilaya, Srinivas

    2003-07-01

    Hereditary fructose intolerance is a rare cause of hepatic cirrhosis in the young. The disorder has a reported frequency of 1 in 20000 live births and no case has been reported from India so far. We report two cases of hereditary fructose intolerance, both with bilateral cataracts and one with cirrhosis of the liver.

  4. Geothermal demonstration: Zunil food dehydration facility

    Energy Technology Data Exchange (ETDEWEB)

    Maldonado, O. (Consultecnia, Guatemala City (Guatemala)); Altseimer, J.; Thayer, G.R. (Los Alamos National Lab., NM (United States)); Cooper, L. (Energy Associates International, Albuquerque, NM (United States)); Caicedo, A. (Unidad de Desarrollo Geotermico, Guatemala City (Guatemala). Inst. Nacional de Electrificacion)

    1991-08-01

    A food dehydration facility was constructed near the town of Zunil, Guatemala, to demonstrate the use of geothermal energy for industrial applications. The facility, with some modifications to the design, was found to work quite satisfactorily. Tests using five different products were completed during the time geothermal energy was used in the plant. During the time the plant was not able to use geothermal energy, a temporary diesel-fueled boiler provided the energy to test dehydration on seven other crops available in this area. The system demonstrates that geothermal heat can be used successfully for dehydrating food products. Many other industrial applications of geothermal energy could be considered for Zunil since a considerable amount of moderate-temperature heat will become available when the planned geothermal electrical facility is constructed there. 6 refs., 15 figs., 7 tabs.

  5. Geothermal demonstration: Zunil food dehydration facility

    Energy Technology Data Exchange (ETDEWEB)

    Maldonado, O. (Consultecnia, Guatemala City (Guatemala)); Altseimer, J.; Thayer, G.R. (Los Alamos National Lab., NM (United States)); Cooper, L. (Energy Associates International, Albuquerque, NM (United States)); Caicedo, A. (Unidad de Desarrollo Geotermico, Guatemala City (Guatemala). Inst. Nacional de Electrificacion)

    1991-08-01

    A food dehydration facility was constructed near the town of Zunil, Guatemala, to demonstrate the use of geothermal energy for industrial applications. The facility, with some modifications to the design, was found to work quite satisfactorily. Tests using five different products were completed during the time geothermal energy was used in the plant. During the time the plant was not able to use geothermal energy, a temporary diesel-fueled boiler provided the energy to test dehydration on seven other crops available in this area. The system demonstrates that geothermal heat can be used successfully for dehydrating food products. Many other industrial applications of geothermal energy could be considered for Zunil since a considerable amount of moderate-temperature heat will become available when the planned geothermal electrical facility is constructed there. 6 refs., 15 figs., 7 tabs.

  6. Guidelines for glycol dehydrator design; Part 1

    Energy Technology Data Exchange (ETDEWEB)

    Manning, W.P. (Coastal Chemical Co., Inc., Houston, TX (United States)); Wood, H.S. (Maloney-Crawford, Tulsa, OK (United States))

    1993-01-01

    Better designs and instrumentation improve glycol dehydrator performance. This paper reports on these guidelines which emphasize efficient water removal from natural gas. Water, a common contaminant in natural gas, causes operational problems when it forms hydrates and deposits on solid surfaces. Result: plugged valves, meters, instruments and even pipelines. Simple rules resolve these problems and reduce downtime and maintenance costs.

  7. Pelagic sea snakes dehydrate at sea

    Science.gov (United States)

    Lillywhite, Harvey B.; Sheehy, Coleman M.; Brischoux, François; Grech, Alana

    2014-01-01

    Secondarily marine vertebrates are thought to live independently of fresh water. Here, we demonstrate a paradigm shift for the widely distributed pelagic sea snake, Hydrophis (Pelamis) platurus, which dehydrates at sea and spends a significant part of its life in a dehydrated state corresponding to seasonal drought. Snakes that are captured following prolonged periods without rainfall have lower body water content, lower body condition and increased tendencies to drink fresh water than do snakes that are captured following seasonal periods of high rainfall. These animals do not drink seawater and must rehydrate by drinking from a freshwater lens that forms on the ocean surface during heavy precipitation. The new data based on field studies indicate unequivocally that this marine vertebrate dehydrates at sea where individuals may live in a dehydrated state for possibly six to seven months at a time. This information provides new insights for understanding water requirements of sea snakes, reasons for recent declines and extinctions of sea snakes and more accurate prediction for how changing patterns of precipitation might affect these and other secondarily marine vertebrates living in tropical oceans. PMID:24648228

  8. Pelagic sea snakes dehydrate at sea.

    Science.gov (United States)

    Lillywhite, Harvey B; Sheehy, Coleman M; Brischoux, François; Grech, Alana

    2014-05-07

    Secondarily marine vertebrates are thought to live independently of fresh water. Here, we demonstrate a paradigm shift for the widely distributed pelagic sea snake, Hydrophis (Pelamis) platurus, which dehydrates at sea and spends a significant part of its life in a dehydrated state corresponding to seasonal drought. Snakes that are captured following prolonged periods without rainfall have lower body water content, lower body condition and increased tendencies to drink fresh water than do snakes that are captured following seasonal periods of high rainfall. These animals do not drink seawater and must rehydrate by drinking from a freshwater lens that forms on the ocean surface during heavy precipitation. The new data based on field studies indicate unequivocally that this marine vertebrate dehydrates at sea where individuals may live in a dehydrated state for possibly six to seven months at a time. This information provides new insights for understanding water requirements of sea snakes, reasons for recent declines and extinctions of sea snakes and more accurate prediction for how changing patterns of precipitation might affect these and other secondarily marine vertebrates living in tropical oceans.

  9. Dehydration transformation in Ca-montmorillonite

    Indian Academy of Sciences (India)

    P Bala; B K Samantaray; S K Srivastava

    2000-02-01

    The present work deals with the dehydration transformation of Ca-montmorillonite in the temperature range 30°–500°C. Thermal, infrared (IR), and X-ray diffraction (XRD) analyses were used to describe the thermal transformation. The microstructural and layer disorder parameters like crystallite size, r.m.s. strain ($\\langle e^2\\rangle^{1/2}$), variation of interlayer spacing (), and proportion of planes which were affected by the defect (), have all been calculated from the (001) basal reflection using the method of variance and Fourier line shape analysis. These investigations revealed that sample underwent transformation from hydrated phase to dehydrated phase at 200°C, and as a consequence, its basal spacing collapsed from 16.02 Å (30°C) to around 10 Å (200°C). This transformation occurred through a wide range of temperature, i.e. within the range 120°–200°C. The crystallite size was maximum at room temperature (30°C), however, the size decreased with increasing temperature in the hydrated phase, whereas the size increased with increasing temperature for the dehydrated phase. The , and $\\langle e^2\\rangle^{1/2}$ of the hydrated and the dehydrated phase increased and decreased, respectively with increase of heating temperature.

  10. DEHYDRATION AND DEOILING OF METAL CHIP

    Directory of Open Access Journals (Sweden)

    O. M. Djakonov

    2011-01-01

    Full Text Available Influence of technology factors on efficiency of processes of dehydration and deoiling of metal chips is investigated. The new universal simple method of definition of coefficients of filtration and free infiltration of liquid in porous medium is offered.

  11. DEHYDRATION IN CHILDREN WITH ACUTE DIARRHEA

    Directory of Open Access Journals (Sweden)

    S. V. Khaliullina

    2014-01-01

    Full Text Available The article is focused on the main issues of the regulation of water-electrolyte metabolism in children, possible variants of its disorder in acute diarrhoeal diseases. The clinical features of dehydration depending on the severity and qualitative component of losses are described, recommendations on laboratory diagnosis and treatment are provided. 

  12. Kinetics of dehydration of potato and development of baked product based on dehydrated potato

    OpenAIRE

    Sarker, A.; M.N. Islam; Shaheb, M.R.

    2012-01-01

    The aims of this study were to determine the kinetics of dehydration of high yielding potato variety (Diamont), to investigate the various process parameters influencing mechanical drying of potatoes and to develop baked product from the dehydrated potato. From the developed equation it was found that the diffusion co-efficient increased with the increase in temperature. The exponential relationship between diffusion co-efficient (De) versus inverse absolute temperature (Tabs-1), activation e...

  13. Hereditary sensory and autonomic neuropathies.

    Science.gov (United States)

    Auer-Grumbach, Michaela

    2013-01-01

    Hereditary sensory and autonomic neuropathies (HSN/HSAN) are clinically and genetically heterogeneous disorders of the peripheral nervous system that predominantly affect the sensory and autonomic neurons. Hallmark features comprise not only prominent sensory signs and symptoms and ulcerative mutilations but also variable autonomic and motor disturbances. Autosomal dominant and autosomal recessive inheritance has been reported. Molecular genetics studies have identified disease-causing mutations in 11 genes. Some of the affected proteins have nerve-specific roles but underlying mechanisms have also been shown to involve sphingolipid metabolism, vesicular transport, structural integrity, and transcription regulation. Genetic and functional studies have substantially improved the understanding of the pathogenesis of the HSN/HSAN and will help to find preventive and causative therapies in the future.

  14. The distal hereditary motor neuropathies.

    Science.gov (United States)

    Rossor, Alexander M; Kalmar, Bernadett; Greensmith, Linda; Reilly, Mary M

    2012-01-01

    The distal hereditary motor neuropathies (dHMN) comprise a heterogeneous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT2) and with juvenile forms of amyotrophic lateral sclerosis and hereditary spastic paraplegia. Eleven causative genes and four loci have been identified with autosomal dominant, recessive and X-linked patterns of inheritance. Despite advances in the identification of novel gene mutations, 80% of patients with dHMN have a mutation in an as-yet undiscovered gene. The causative genes have implicated proteins with diverse functions such as protein misfolding (HSPB1, HSPB8, BSCL2), RNA metabolism (IGHMBP2, SETX, GARS), axonal transport (HSPB1, DYNC1H1, DCTN1) and cation-channel dysfunction (ATP7A and TRPV4) in motor-nerve disease. This review will summarise the clinical features of the different subtypes of dHMN to help focus genetic testing for the practising clinician. It will also review the neuroscience that underpins our current understanding of how these mutations lead to a motor-specific neuropathy and highlight potential therapeutic strategies. An understanding of the functional consequences of gene mutations will become increasingly important with the advent of next-generation sequencing and the need to determine the pathogenicity of large amounts of individual genetic data.

  15. Genetics 101 --The Hereditary Material of Life

    Science.gov (United States)

    ... of this page please turn Javascript on. Feature: Genetics 101 Genetics 101 — The Hereditary Material of Life Past Issues / Summer 2013 Table of Contents Genetics is the study of heredity, the process in ...

  16. Hereditary angioedema: imaging manifestations and clinical management.

    Science.gov (United States)

    Gakhal, Mandip S; Marcotte, Gregory V

    2015-02-01

    Hereditary angioedema is a genetic disorder typically related to insufficient or dysfunctional C1-esterase inhibitor. Patients present with episodic swelling of various body parts, such as the face, neck, bowel, genitals, and extremities. Acute or severe symptoms can lead to patients presenting to the emergency room, particularly when the neck and abdominopelvic regions are affected, which is often accompanied by radiologic imaging evaluation. Patients with hereditary angioedema can pose a diagnostic challenge for emergency department physicians and radiologists at initial presentation, and the correct diagnosis may be missed or delayed, due to lack of clinical awareness of the disease or lack of its consideration in the radiologic differential diagnosis. Timely diagnosis of hereditary angioedema and rapid initiation of appropriate therapy can avoid potentially life-threatening complications. This article focuses on the spectrum of common and characteristic acute imaging manifestations of hereditary angioedema and provides an update on important recent developments in its clinical management and treatment.

  17. Idiopathic Thrombocytopenic Purpura Misdiagnosed as Hereditary Angioedema

    Directory of Open Access Journals (Sweden)

    Michelle Fog Andersen

    2015-01-01

    Full Text Available Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does however not always have to be caused by angioedema but can relate to other concomitant disorders. In this report we are focusing on misdiagnosis in a patient with known hereditary angioedema, whose bleeding episode caused by idiopathic thrombocytopenic purpura was mistaken for an acute attack of hereditary angioedema. The case illustrates how clinicians can have difficulties in handling patients with rare diseases, especially in the emergency care setting.

  18. Hereditary History Preserving Bisimilarity Is Undecidable

    DEFF Research Database (Denmark)

    Jurdzinski, Marcin; Nielsen, Mogens

    2000-01-01

    History preserving bisimilarity (hp-bisimilarity) and hereditary history preserving bisimilarity (hhp-bisimilarity) are behavioural equivalences taking into account causal relationships between events of concurrent systems. Their prominent feature is being preserved under action refinement...

  19. Splenic Involvement in Hereditary Hemorrhagic Telangiectasia

    Directory of Open Access Journals (Sweden)

    Susumu Takamatsu

    2016-01-01

    Full Text Available A 33-year-old man who presented with prolonged epigastric pain was referred to our hospital. He had experienced recurrent epistaxis and had a family history of hereditary hemorrhagic telangiectasia. Computed tomography and magnetic resonance imaging revealed splenomegaly and a 9 cm hypervascular mass in his spleen. Computed tomography also showed a pulmonary arteriovenous malformation and heterogeneous enhancement of the liver parenchyma, suggesting the presence of arteriosystemic shunts and telangiectases. Based on these findings, the patient was definitely diagnosed with hereditary hemorrhagic telangiectasia according to Curaçao criteria. He underwent splenectomy, and his symptoms disappeared after surgery. Pathological examination of the resected specimen revealed that the hypervascular lesion of the spleen was not a tumor but was composed of abnormal vessels associated with hereditary hemorrhagic telangiectasia. Symptomatic splenic involvement may be a rare manifestation of hereditary hemorrhagic telangiectasia but can be revealed by imaging modalities.

  20. Genetics Home Reference: hereditary cerebral amyloid angiopathy

    Science.gov (United States)

    ... Neubert TA, Lu Y, Rebeck GW, Frangione B, Greenberg SM, Ghiso J. Iowa variant of familial Alzheimer's ... ML, van Duinen SG, Roos RA, Frosch MP, Greenberg SM. The cerebral beta-amyloid angiopathies: hereditary and ...

  1. Hereditary History Preserving Bisimilarity Is Undecidable

    DEFF Research Database (Denmark)

    Jurdzinski, Marcin; Nielsen, Mogens

    2000-01-01

    History preserving bisimilarity (hp-bisimilarity) and hereditary history preserving bisimilarity (hhp-bisimilarity) are behavioural equivalences taking into account causal relationships between events of concurrent systems. Their prominent feature is being preserved under action refinement...

  2. A Review of Hereditary Fructose Intolerance

    Directory of Open Access Journals (Sweden)

    Mogoş Tiberius

    2016-03-01

    Full Text Available Fructose intolerance is a metabolic disorder with hereditary determinism, clinically manifested on terms of fructose intake. Untreated, hereditary fructose intolerance may result in renal and hepatic failure. Unfortunately, there are no formal diagnostic and surveillance guidelines for this disease. If identified and treated before the occurrence of permanent organ damage, patients can improve their symptoms and self-rated health. Implementation and adherence to a strict fructose free diet is often difficult, but not impossible.

  3. Fluid replacement following dehydration reduces oxidative stress during recovery.

    Science.gov (United States)

    Paik, Il-Young; Jeong, Myung-Hyun; Jin, Hwa-Eun; Kim, Young-Il; Suh, Ah-Ram; Cho, Su-Youn; Roh, Hee-Tae; Jin, Chan-Ho; Suh, Sang-Hoon

    2009-05-22

    To investigate the effects of hydration status on oxidative DNA damage and exercise performance, 10 subjects ran on a treadmill until exhaustion at 80% VO(2max) during four different trials [control (C), 3% dehydration (D), 3% dehydration+water (W) or 3% dehydration+sports drink (S)]. Dehydration significantly decreased exercise time to exhaustion (DDehydration significantly increased oxidative DNA damage during exercise, but fluid replacement with water or sports drink alleviated it equally. These results suggest that (1) dehydration impairs exercise performance and increases DNA damage during exercise to exhaustion; and (2) fluid replacement prolongs exercise endurance and attenuates DNA damage.

  4. Pulsed ultrasound assisted dehydration of waste oil.

    Science.gov (United States)

    Xie, Wei; Li, Rui; Lu, Xiaoping

    2015-09-01

    A method to aid the separation of the oil phase from waste oil emulsion of refineries had been developed by using a pulsed ultrasonic irradiation technology. Compared with conventional continuous ultrasonic irradiation, it is found that pulsed ultrasonic irradiation is much better to make water drop coalescence and hence dehydration of waste oil. The effects of ultrasonic irradiation parameters on waste oil dehydration are further discussed. The orthogonal experiment is also designed to investigate the degrees of influence of ultrasonic parameters and the optimal technological conditions. Under the optimal experimental conditions, the water content of waste oil is decreased from 65% to 8%, which thereby satisfies the requirements of refineries on the water content of waste oil after treatment (<10%). Copyright © 2015 Elsevier B.V. All rights reserved.

  5. Microglassification™: a Novel Technique for Protein Dehydration

    DEFF Research Database (Denmark)

    Aniket; Gaul, David; Rickard, Deborah

    2014-01-01

    he dehydration of biologics is commonly employed to achieve solid-dose formulation and enhanced stability during long-term preservation. We have developed a novel process, MicroglassificationTM, which can rapidly and controllably dehydrate protein solutions into solid amorphous microspheres at room...... temperature. Single bovine serum albumin (BSA) microdroplets were suspended in pentanol or decanol using a micropipette, and the dynamic changes in droplet dissolution were observed in real-time and correlated to protein's water of hydration, medium's water activity, and microsphere protein concentration....... MicroglassificationTM was also carried out at bulk scale, and changes in BSA secondary structure were analyzed by Fourier transform infrared spectroscopy and fluorescence spectroscopy; multimer formation was detected by native gel electrophoresis. BSA concentration in the microsphere increased with solvent exposure...

  6. "Dehydrated" chondrules from the Murchison (CM) chondrite

    OpenAIRE

    Inoue, Mutsuo; Nakamura,Noboru

    1996-01-01

    Two "dehydrated" chondrules (MC-5 and MC-27) were obtained from close to the fusion crust of the Murchison (CM) meteorite. They have a porphyritic texture with angular or rounded (relict) olivines containing abundant voids, recrystallized olivines, and numerous interstitial Fe oxide grains embedded in groundmass glass. This peculiar texture is similar to that of the fusion crust from the Orgueil (CI) chondrite, indicating that the texture formed during the reheating at the atmospheric entry o...

  7. Could Neonatal Hypernatremia Dehydration Influence Hearing Status?

    Directory of Open Access Journals (Sweden)

    Hassan Boskabadi

    2014-01-01

    Full Text Available Introduction: Neonatal hypernatremia dehydration (NHD is a dangerous condition in neonates, which is accompanied by acute complications (renal failure, cerebral edema, and cerebral hemorrhage and chronic complications (developmental delay. Children begin learning language from birth, and hearing impairment interferes with this process. We assessed the hearing status of infants with hypernatremia dehydration.   Materials and Methods: In a case-control study in 110 infants presenting at the Ghaem Hospital (Mashhad, Iran between 2007 and 2011, we examined the incidence of hearing impairment in infants suffering from hypernatremia dehydration (serum sodium >150 mEq/L in comparison with infants with normal sodium level (serum sodium ≤150 mEq/L.   Results: Three of 110 cases examined in the study group showed a transient hearing impairment. A mean serum sodium level of 173mg/dl was reported among hearing-impaired infants.   Conclusion:  Transient hearing impairment was higher in infants with hypernatremia; although this difference was not significant (P>0.05. Hearing impairment was observed in cases of severe hypernatremia.  

  8. Dehydration and endurance performance in competitive athletes.

    Science.gov (United States)

    Goulet, Eric D B

    2012-11-01

    The field of research examining the link between dehydration and endurance performance is at the dawn of a new era. This article reviews the latest findings describing the relationship between exercise-induced dehydration and endurance performance and provides the knowledge necessary for competitive, endurance-trained athletes to develop a winning hydration strategy. Acute, pre-exercise body weight loss at or above 3% may decrease subsequent endurance performance. Therefore, endurance athletes should strive to start exercise well hydrated, which can be achieved by keeping thirst sensation low and urine color pale and drinking approximately 5-10 mL/kg body weight of water 2 h before exercise. During exercise lasting 1 h or less, dehydration does not decrease endurance performance, but athletes are encouraged to mouth-rinse with sports drinks. During exercise lasting longer than 1 h, in which fluid is readily available, drinking according to the dictates of thirst maximizes endurance performance. In athletes whose thirst sensation is untrustworthy or when external factors such as psychological stress or repeated food intake may blunt thirst sensation, it is recommended to program fluid intake to maintain exercise-induced body weight loss around 2% to 3%.

  9. Influence of Dehydration on Intermittent Sprint Performance.

    Science.gov (United States)

    Davis, Jon-Kyle; Laurent, C Matt; Allen, Kimberly E; Green, J Matt; Stolworthy, Nicola I; Welch, Taylor R; Nevett, Michael E

    2015-09-01

    This study examined the effects of dehydration on intermittent sprint performance and perceptual responses. Eight male collegiate baseball players completed intermittent sprints either dehydrated (DEHY) by 3% body mass or euhydrated (EU). Body mass was reduced through exercise in the heat with controlled fluid restriction occurring 1 day before the trial. Participants completed twenty-four 30-m sprints divided into 3 bouts of 8 sprints with 45 seconds of rest between each sprint and 3 minutes between each bout. Perceived recovery status (PRS) scale was recorded before the start of each trial. Heart rate (HR), ratings of perceived exertion (RPE) (0-10 OMNI scale), and perceived readiness (PR) scale were recorded after every sprint, and session RPE (SRPE) was recorded 20 minutes after completing the entire session. A 2 (condition) × 3 (bout of sprints) repeated-measures ANOVA revealed a significant main effect of condition on mean sprint time (p = 0.03), HR (p Dehydration impaired sprint performance, negatively altered perception of recovery status before exercise, and increased RPE and HR response.

  10. Dehydration-induced drinking in humans

    Science.gov (United States)

    Greenleaf, J. E.

    1982-01-01

    The human tendency to experience a delay in rehydration (involuntary dehydration) after fluid loss is considered. The two primary factors contributing to involuntary dehydration are probably upright posture, and extracellular fluid and electrolyte loss by sweating from exercise and heat exposure. First, as the plasma sodium and osmotic concentrations remain virtually unchanged for supine to upright postural changes, the major stimuli for drinking appear to be associated with the hypovolemia and increase in the renin-angiotension system. Second, voluntary drinking during the heat experiments was 146% greater than in cool experiments; drinking increased by 109% with prior dehydration as opposed to normal hydration conditions; and drinking was increased by 41% after exercise as compared with the resting condition. Finally, it is concluded that the rate of sweating and the rate of voluntary fluid intake are highly correlated, and that the dispogenic factors of plasma volume, osmolality, and plasma renin activity are unrelated to sweat rate, but are likely to induce drinking in humans.

  11. Hereditary sensory neuropathy type I

    Directory of Open Access Journals (Sweden)

    Auer-Grumbach Michaela

    2008-03-01

    Full Text Available Abstract Hereditary sensory neuropathy type I (HSN I is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The exact prevalence is unknown, but is estimated as very low. Disease onset varies between the 2nd and 5th decade of life. The main clinical feature of HSN I is the reduction of sensation sense mainly distributed to the distal parts of the upper and lower limbs. Variable distal muscle weakness and wasting, and chronic skin ulcers are characteristic. Autonomic features (usually sweating disturbances are invariably observed. Serious and common complications are spontaneous fractures, osteomyelitis and necrosis, as well as neuropathic arthropathy which may even necessitate amputations. Some patients suffer from severe pain attacks. Hypacusis or deafness, or cough and gastrooesophageal reflux have been observed in rare cases. HSN I is a genetically heterogenous condition with three loci and mutations in two genes (SPTLC1 and RAB7 identified so far. Diagnosis is based on the clinical observation and is supported by a family history. Nerve conduction studies confirm a sensory and motor neuropathy predominantly affecting the lower limbs. Radiological studies, including magnetic resonance imaging, are useful when bone infections or necrosis are suspected. Definitive diagnosis is based on the detection of mutations by direct sequencing of the SPTLC1 and RAB7 genes. Correct clinical assessment and genetic confirmation of the diagnosis are important for appropriate genetic counselling and prognosis. Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN, especially HSAN II, as well as diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, amyloidosis, spinal cord diseases, tabes dorsalis, lepra

  12. Prevalence of autoantibodies in a group of hereditary angioedema patients.

    Science.gov (United States)

    Dortas Junior, Sergio Duarte; Valle, Solange Oliveira Rodrigues; Levy, Soloni Afra Pires; Tortora, Rosangela P; Abe, Augusto Tiaqui; Pires, Gisele Viana; Papi, José Angelo de Souza; França, Alfeu Tavares

    2012-01-01

    Hereditary Angioedema is a dominantly inherited disease. Routine screening of autoantibodies (AAB) is not recommended for individuals with Hereditary Angioedema; however, prevalence of these antibodies in Hereditary Angioedema patients is not well documented. We aim to determine the prevalence of AAB so that individuals at risk of developing autoimmune diseases can be identified. Fifteen patients with Hereditary Angioedema attended at Clementino Fraga Filho University Hospital accepted to participate in this study. Prevalence of AAB was 40%. Our data indicate high prevalence of AAB in patients with Hereditary Angioedema. Large-scale studies should be considered to determine the significance of these AAB in the follow-up care of patients with Hereditary Angioedema.

  13. Hereditary angioedema may not be the only cause of abdominal pain in patients with hereditary angioedema!

    Directory of Open Access Journals (Sweden)

    Ozgur Kartal

    2016-09-01

    Full Text Available Abdominal pain is one of the basic clinical presentations of the hereditary angioedema and danazol is a common medicine which has been used for long years in patients with hereditary angioedema. We present two hereditary angioedema patients with abdominal pain albeit under danazol treatment, whose final diagnoses was colon carcinoma. There are two consequences in this article which shall be insisted on: First; in patients with hereditary angioedema, the differential diagnosis of and ldquo;abdominal pain and rdquo; is always important even though hereditary angioedema diagnosis exists. And the second; It can be hardy speculated that long term danazol treatment may cause different malignancies. [Cukurova Med J 2016; 41(3.000: 567-569

  14. [Genetics of hereditary iron overload].

    Science.gov (United States)

    Le Gall, Jean-Yves; Jouanolle, Anne-Marie; Fergelot, Patricia; Mosser, Jean; David, Véronique

    2004-01-01

    The classification of hereditary abnormalities of iron metabolism was recently expanded and diversified. Genetic hemochromatosis now corresponds to six diseases, namely classical hemochromatosis HFE 1; juvenile hemochromatosis HFE 2 due to mutations in an unidentified gene on chromosome 1; hemochromatosis HFE 3 due to mutations in the transferrin receptor 2 (TfR2); hemochromatosis HFE 4 caused by a mutation in the H subunit of ferritin; and hemochromatosis HFE 6 whose gene is hepcidine (HAMP). Systemic iron overload is also associated with aceruloplasminemia, atransferrinemia and the "Gracile" syndrome caused by mutations in BCS1L. The genes responsible for neonatal and African forms of iron overload are unknown. Other genetic diseases are due to localized iron overload: Friedreich's ataxia results from the expansion of triple nucleotide repeats within the frataxin (FRDA) gene; two forms of X-linked sideroblastic anemia are due to mutations within the delta aminolevulinate synthetase (ALAS 2) or ABC-7 genes; Hallervorden-Spatz syndrome is caused by a pantothenate kinase 2 gene (PANK-2) defect; neuroferritinopathies; and hyperferritinemia--cataract syndrome due to a mutation within the L-ferritin gene. In addition to this wide range of genetic abnormalities, two other features characterize these iron disorders: 1) most are transmitted by an autosomal recessive mechanism, but some, including hemochromatosis type 4, have dominant transmission; and 2) most correspond to cytosolic iron accumulation while some, like Friedreich's ataxia, are disorders of mitochondrial metabolism.

  15. Downhole dehydration - status report and implementation study; Downhole Dehydration - Statusbericht und Umsetzungsstudie

    Energy Technology Data Exchange (ETDEWEB)

    Jacobs, D.; Schmidt, D. [BEB Erdgas und Erdoel GmbH, Hannover (Germany)

    1998-12-31

    Downhole dehydration, i.e. in-situ separation of water and oil, is an interesting new technology. The contribution describes the technology and the results of a field experiment. (orig.) [Deutsch] Die Tail-End Foerderphase in der deutschen Erdoelproduktion, welche durch hohe Wasserhebekosten gekennzeichnet ist, erfordert zur Aufrechterhaltung der Wirtschaftlichkeit neue Gedankenansaetze. Ein aus wirtschaftlicher und technischer Sicht reizvoller Optimierungsgedanke ist die untertaegige Wasser/Oel Separation, auch Downhole Dehydration genannt. Unter Downhole Dehydration (DHD) versteht man also die untertaegige (teilweise) Separation des Lagerstaettenwassers vom Nassoel, kurz nachdem das Gemisch untertaegig in das Bohrloch eingetreten ist. Dabei wird das abgetrennte Lagerstaettenwasser untertage in einen geeigneten Horizont unmittelbar wieder injiziert und das Oel (wie bei der konventionellen Foerderung) zutage gepumpt, mit dem Ziel der Nutzung der daraus resultierenden Kosten- und Investitionsersparnis. Ziel dieses Vortrages ist es, einen kurzen Einblick in die erstmalig in Europa angewandte Technik zu geben und von den Erfahrungen des praktizierten Feldversuches zu berichten. (orig.)

  16. Genetics Home Reference: hereditary sensory and autonomic neuropathy type V

    Science.gov (United States)

    ... Conditions HSAN5 hereditary sensory and autonomic neuropathy type V Enable Javascript to view the expand/collapse boxes. ... All Description Hereditary sensory and autonomic neuropathy type V ( HSAN5 ) is a condition that primarily affects the ...

  17. Endocrine dysfunction in hereditary hemochromatosis.

    Science.gov (United States)

    Pelusi, C; Gasparini, D I; Bianchi, N; Pasquali, R

    2016-08-01

    Hereditary hemochromatosis (HH) is a genetic disorder of iron overload and subsequent organ damage. Five types of HH are known, classified by age of onset, genetic cause, clinical manifestations and mode of inheritance. Except for the rare form of juvenile haemochromatosis, symptoms do not usually appear until after decades of progressive iron loading and may be triggered by environmental and lifestyle factors. Despite the last decades discovery of genetic and phenotype diversity of HH, early studies showed a frequent involvement of the endocrine glands where diabetes and hypogonadism are the most common encountered endocrinopathies. The pathogenesis of diabetes is still relatively unclear, but the main mechanisms include the loss of insulin secretory capacity and insulin resistance secondary to liver damage. The presence of obesity and/or genetic predisposition may represent addictive risk factor for the development of this metabolic disease. Although old cases of primary gonad involvement are described, hypogonadism is mainly secondary to selective deposition of iron on the gonadotropin-producing cells of the pituitary gland, leading to hormonal impaired secretion. Cases of hypopituitarism or selected tropin defects, and abnormalities of adrenal, thyroid and parathyroid glands, even if rare, are reported. The prevalence of individual gland dysfunction varies enormously within studies for several bias due to small numbers of and selected cases analyzed, mixed genotypes and missing data on medical history. Moreover, in the last few years early screening and awareness of the disease among physicians have allowed hemochromatosis to be diagnosed in most cases at early stages when patients have no symptoms. Therefore, the clinical presentation of this disease has changed significantly and the recognized common complications are encountered less frequently. This review summarizes the current knowledge on HH-associated endocrinopathies.

  18. Late onset hereditary episodic ataxia.

    Science.gov (United States)

    Damak, M; Riant, F; Boukobza, M; Tournier-Lasserve, E; Bousser, M-G; Vahedi, K

    2009-05-01

    Episodic ataxias (EA) are hereditary paroxysmal neurological diseases with considerable clinical and genetic heterogeneity. So far seven loci have been reported and four different genes have been identified. Analysis of additional sporadic or familial cases is needed to better delineate the clinical and genetic spectrum of EA. A two generation French family with late onset episodic ataxia was examined. All consenting family members had a brain MRI with volumetric analysis of the cerebellum. Haplotype analysis was performed for the EA2 locus (19p13), the EA5 locus (2q22), the EA6 locus (5p13) and the EA7 locus (19q13). Mutation screening was performed for all exons of CACNA1A (EA2), EAAT1 (EA6) and the coding sequence of KCNA1 (EA1). Four family members had episodic ataxia with onset between 48 and 56 years of age but with heterogeneity in the severity and duration of symptoms. The two most severely affected had daily attacks of EA with a slowly progressive and disabling permanent cerebellar ataxia and a poor response to acetazolamide. Brain MRI showed in three affected members a decrease in the ratio of cerebellar volume:total intracranial volume, indicating cerebellar atrophy. No deleterious mutation was found in CACNA1A, SCA6, EAAT1 or KCNA1. In addition, the EA5 locus was excluded. A new phenotype of episodic ataxia has been described, characterised clinically by a late onset and progressive permanent cerebellar signs, and genetically by exclusion of the genes so far identified in EA.

  19. Natural gas dehydration by desiccant materials

    OpenAIRE

    Farag, Hassan A.A.; Mustafa Mohamed Ezzat; Hoda Amer; Adel William Nashed

    2011-01-01

    Water vapor in a natural gas stream can result in line plugging due to hydrate formation, reduction of line capacity due to collection of free water in the line, and increased risk of damage to the pipeline due to the corrosive effects of water. Therefore, water vapor must be removed from natural gas to prevent hydrate formation and corrosion from condensed water. Gas dehydration is the process of removing water vapor from a gas stream to lower the temperature at which water will condense ...

  20. Computational Dehydration of Crystalline Hydrates Using Molecular Dynamics Simulations

    DEFF Research Database (Denmark)

    Larsen, Anders Støttrup; Rantanen, Jukka; Johansson, Kristoffer E

    2016-01-01

    . The structural changes could be followed in real time, and in addition, an intermediate amorphous phase was identified. The computationally identified dehydrated structure (anhydrate) was slightly different from the experimentally known anhydrate structure suggesting that the simulated computational structure...... to the dehydration of ampicillin trihydrate. The crystallographic unit cell of the trihydrate is used to construct the simulation cell containing 216 ampicillin and 648 water molecules. This system is dehydrated by removing water molecules during a 2200 ps simulation, and depending on the computational dehydration...... rate, different dehydrated structures were observed. Removing all water molecules immediately and removing water relatively fast (10 water molecules/10 ps) resulted in an amorphous system, whereas relatively slow computational dehydration (3 water molecules/10 ps) resulted in a crystalline anhydrate...

  1. Genetic profiles distinguish different types of hereditary ovarian cancer

    DEFF Research Database (Denmark)

    Domanska, Katarina; Malander, Susanne; Staaf, Johan

    2010-01-01

    Heredity represents the strongest risk factor for ovarian cancer with disease predisposing mutations identified in 15% of the tumors. With the aim to identify genetic classifiers for hereditary ovarian cancer, we profiled hereditary ovarian cancers linked to the hereditary breast and ovarian canc...... that HBOC and HNPCC associated ovarian cancer develop along distinct genetic pathways and genetic profiles can thus be applied to distinguish between different types of hereditary ovarian cancer....

  2. Pancreatic cancer risk in hereditary pancreatitis

    Directory of Open Access Journals (Sweden)

    Frank Ulrich Weiss

    2014-02-01

    Full Text Available Inflammation is part of the body’s immune response in order to remove harmful stimuli – like pathogens, irritants or damaged cells - and start the healing process. Recurrent or chronic inflammation on the other side seems a predisposing factor for carcinogenesis and has been found associated with cancer development. In chronic pancreatitis mutations of the cationic trypsinogen (PRSS1 gene have been identified as risk factors of the disease. Hereditary pancreatitis is a rare cause of chronic pancreatic inflammation with an early onset, mostly during childhood. Hereditary pancreatitis often starts with recurrent episodes of acute pancreatitis and the clinical phenotype is not very much different from other etiologies of the disease. The long-lasting inflammation however generates a tumor promoting environment and represents a major risk factor for tumor development This review will reflect our knowledge concerning the specific risk of hereditary pancreatitis patients to develop pancreatic cancer.

  3. Hereditary cerebral small vessel disease and stroke

    DEFF Research Database (Denmark)

    Søndergaard, Christian Baastrup; Nielsen, Jørgen Erik; Hansen, Christine Krarup

    2017-01-01

    of this systematic review is to provide a guide for determining when to consider molecular genetic testing in patients presenting with small vessel disease and stroke. CADASIL, CARASIL, collagen type IV mutations (including PADMAL), retinal vasculopathy with cerebral leukodystrophy, Fabry disease, hereditary...... cerebral hemorrhage with amyloidosis, and forkhead box C1 mutations are described in terms of genetics, pathology, clinical manifestation, imaging, and diagnosis. These monogenic disorders are often characterized by early-age stroke, but also by migraine, mood disturbances, vascular dementia and often gait......Cerebral small vessel disease is considered hereditary in about 5% of patients and is characterized by lacunar infarcts and white matter hyperintensities on MRI. Several monogenic hereditary diseases causing cerebral small vessel disease and stroke have been identified. The purpose...

  4. High liver glycogen in hereditary fructose intolerance.

    Science.gov (United States)

    Cain, A R; Ryman, B E

    1971-11-01

    A case of hereditary fructose intolerance is reported in a girl aged 2 years at the time of her death. She had apparently progressed normally until the age of 14 months. At 19 months she was admitted to hospital with failure to thrive, hepatomegaly, and superficial infections. Investigations revealed hypoglycaemia, persistent acidosis, aminoaciduria, and a high liver glycogen level which suggested that she had glycogen storage disease. There was also some evidence of malabsorption. At necropsy the liver enzyme estimations showed that fructose 1-phosphate aldolase activity was absent and that fructose 1,6-diphosphate aldolase activity was reduced. Hereditary fructose intolerance and glycogen storage disease have been confused in the past on clinical grounds, but a high liver glycogen level has not previously been reported in hereditary fructose intolerance.

  5. Hereditary Cerebellar Ataxias: A Korean Perspective

    Directory of Open Access Journals (Sweden)

    Ji Sun Kim

    2015-05-01

    Full Text Available Hereditary ataxia is a heterogeneous disorder characterized by progressive ataxia combined with/without peripheral neuropathy, extrapyramidal symptoms, pyramidal symptoms, seizure, and multiple systematic involvements. More than 35 autosomal dominant cerebellar ataxias have been designated as spinocerebellar ataxia, and there are 55 recessive ataxias that have not been named systematically. Conducting genetic sequencing to confirm a diagnosis is difficult due to the large amount of subtypes with phenotypic overlap. The prevalence of hereditary ataxia can vary among countries, and estimations of prevalence and subtype frequencies are necessary for planning a diagnostic strategy in a specific population. This review covers the various hereditary ataxias reported in the Korean population with a focus on the prevalence and subtype frequencies as the clinical characteristics of the various subtypes.

  6. Mild dehydration affects mood in healthy young women.

    Science.gov (United States)

    Armstrong, Lawrence E; Ganio, Matthew S; Casa, Douglas J; Lee, Elaine C; McDermott, Brendon P; Klau, Jennifer F; Jimenez, Liliana; Le Bellego, Laurent; Chevillotte, Emmanuel; Lieberman, Harris R

    2012-02-01

    Limited information is available regarding the effects of mild dehydration on cognitive function. Therefore, mild dehydration was produced by intermittent moderate exercise without hyperthermia and its effects on cognitive function of women were investigated. Twenty-five females (age 23.0 ± 0.6 y) participated in three 8-h, placebo-controlled experiments involving a different hydration state each day: exercise-induced dehydration with no diuretic (DN), exercise-induced dehydration plus diuretic (DD; furosemide, 40 mg), and euhydration (EU). Cognitive performance, mood, and symptoms of dehydration were assessed during each experiment, 3 times at rest and during each of 3 exercise sessions. The DN and DD trials in which a volunteer attained a ≥1% level of dehydration were pooled and compared to that volunteer's equivalent EU trials. Mean dehydration achieved during these DN and DD trials was -1.36 ± 0.16% of body mass. Significant adverse effects of dehydration were present at rest and during exercise for vigor-activity, fatigue-inertia, and total mood disturbance scores of the Profile of Mood States and for task difficulty, concentration, and headache as assessed by questionnaire. Most aspects of cognitive performance were not affected by dehydration. Serum osmolality, a marker of hydration, was greater in the mean of the dehydrated trials in which a ≥1% level of dehydration was achieved (P = 0.006) compared to EU. In conclusion, degraded mood, increased perception of task difficulty, lower concentration, and headache symptoms resulted from 1.36% dehydration in females. Increased emphasis on optimal hydration is warranted, especially during and after moderate exercise.

  7. [Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)].

    Science.gov (United States)

    Takashima, Hiroshi

    2014-01-01

    Inherited neuropathy is a genetically and clinically heterogeneous group of neuropathies, the main category becomes Charcot-Marie-Tooth neuropathy (CMT), also known as hereditary motor and sensory neuropathy (HMSN), distal hereditary motor neuropathy (dHMN), and hereditary sensory autonomic neuropathy (HSAN). At least 80 genes have been associated with CMT, HMN or HSAN, a precise molecular diagnosis is often needed to make a clinical diagnosis accurately, enable genetic counseling of the patient and understanding of their molecular mechanisms. To identify the mutation in each patient, using a high-throughput NGS, we established a diagnostic procedure involving screening of disease causing genes in CMT, HMN or HSAN.

  8. [Hereditary optic neuropathies: clinical and molecular genetic characteristics].

    Science.gov (United States)

    Khanakova, N A; Sheremet, N L; Loginova, A N; Chukhrova, A L; Poliakov, A V

    2013-01-01

    The article presents a review of literature on hereditary optic neuropathies: Leber mitochondrial hereditary optic neuropathy, autosomal dominant and autosomal recessive optic neuropathies, X-linked optic atrophy. Clinical and molecular genetic characteristics are covered. Isolated optic neuropathies, as well as hereditary optic disorders, being a part of a complex syndromic disease are described.

  9. Extramedullary paraspinal hematopoiesis in hereditary spherocytosis

    Directory of Open Access Journals (Sweden)

    Gogia P

    2008-01-01

    Full Text Available Hereditary spherocytosis (HS is a common inherited hemolytic anemia due to red cell membrane defects. Extramedullary hematopoiesis is a compensatory response to insufficient bone marrow blood cell production. The preferred sites of extramedullary hematopoietic involvement are the spleen, liver and lymph nodes; but in HS, the posterior paravertebral mediastinum is also commonly involved. We report a case of a 50-year-old male who presented to us in respiratory distress and with bilateral paravertebral posterior mediastinal masses, which on trucut biopsy were found to be extra-hematopoietic masses; and the patient was found to have hereditary spherocytosis.

  10. Disease expression in women with hereditary angioedema

    DEFF Research Database (Denmark)

    Bouillet, Laurence; Longhurst, Hilary; Boccon-Gibod, Isabelle

    2008-01-01

    project launched by the European Union, data on 150 postpubertal women with hereditary angioedema were collected in 8 countries, using a patient-based questionnaire. RESULTS: Puberty worsened the disease for 62%. Combined oral contraceptives worsened the disease for 79%, whereas progestogen-only pills......OBJECTIVE: Fluctuations in sex hormones can trigger angioedema attacks in women with hereditary angioedema. Combined oral contraceptive therapies, as well as pregnancy, can induce severe attacks. The course of angioedema may be very variable in different women. STUDY DESIGN: Within the PREHAEAT...

  11. Hereditary angioedema with normal C1 inhibitor.

    Science.gov (United States)

    Bork, Konrad

    2013-11-01

    Until recently it was assumed that hereditary angioedema was a disease that results exclusively from a genetic deficiency of the C1 inhibitor. In 2000, families with hereditary angioedema, normal C1 inhibitor activity, and protein in plasma were described. Since then, numerous patients and families with that condition have been reported. Most of the patients were women. In many of the affected women, oral contraceptives, hormone replacement therapy containing estrogens, and pregnancies triggered the clinical symptoms. In some families mutations in the coagulation factor XII (Hageman factor) gene were detected.

  12. Diagnosis and management of hereditary hemochromatosis.

    Science.gov (United States)

    Salgia, Reena J; Brown, Kimberly

    2015-02-01

    Hereditary hemochromatosis is a rare genetic disorder that can have significant clinical consequences. Hemochromatosis is associated with iron overload, and can initially be recognized through laboratory testing for serum ferritin and transferrin saturation. Genetic testing for the HFE mutation can be performed in patients with elevated iron indices and a suspicion for hemochromatosis or liver disease. The main pathway resulting in iron overload is through altered hepcidin levels. Treatment of patients with the clinical phenotype of hereditary hemochromatosis is commonly through phlebotomy for removal of excess iron stores. This article highlights the current information and data regarding the diagnosis and management of hemochromatosis.

  13. Albright hereditary osteodystrophy: A rare case report

    Directory of Open Access Journals (Sweden)

    Goswami M

    2009-09-01

    Full Text Available Albright hereditary osteodystrophy (AHO is a rare hereditary metabolic disorder that may be associated with or without resistant to parathyroid hormone (pseudohypoparathyroidism. It is commonly characterized by a constellation of physical features of short stature, round face, short neck, and small metacarpals and metatarsals, mild mental retardation, osteoporosis, subcutaneous calcification, and sometimes olfactory and hearing functional defect. Hypocalcaemia and hyperphosphatemia are the most important manifestations of the case. We report a clinical case of siblings with AHO with reduced Gs-alpha activity and we discuss their clinical features with oral manifestations, radiographic findings, laboratory tests along with treatment.

  14. Dehydration anorexia is attenuated in oxytocin-deficient mice.

    Science.gov (United States)

    Rinaman, Linda; Vollmer, Regis R; Karam, Joseph; Phillips, Donnesha; Li, Xia; Amico, Janet A

    2005-06-01

    Evidence in rats suggests that central oxytocin (OT) signaling pathways contribute to suppression of food intake during dehydration (i.e., dehydration anorexia). The present study examined water deprivation-induced dehydration anorexia in wild-type and OT -/- mice. Mice were deprived of food alone (fasted, euhydrated) or were deprived of both food and water (fasted, dehydrated) for 18 h overnight. Fasted wild-type mice consumed significantly less chow during a 60-min refeeding period when dehydrated compared with their intake when euhydrated. Conversely, fasting-induced food intake was slightly but not significantly suppressed by dehydration in OT -/- mice, evidence for attenuated dehydration anorexia. In a separate experiment, mice were deprived of water (but not food) overnight for 18 h; then they were anesthetized and perfused with fixative for immunocytochemical analysis of central Fos expression. Fos was elevated similarly in osmo- and volume-sensitive regions of the basal forebrain and hypothalamus in wild-type and OT -/- mice after water deprivation. OT-positive neurons expressed Fos in dehydrated wild-type mice, and vasopressin-positive neurons were activated to a similar extent in wild-type and OT -/- mice. Conversely, significantly fewer neurons within the hindbrain dorsal vagal complex were activated in OT -/- mice after water deprivation compared with activation in wild-type mice. These findings support the view that OT-containing projections from the hypothalamus to the hindbrain are necessary for the full expression of compensatory behavioral and physiological responses to dehydration.

  15. Dehydration and rehydration in competative sport.

    Science.gov (United States)

    Maughan, R J; Shirreffs, S M

    2010-10-01

    Dehydration, if sufficiently severe, impairs both physical and mental performance, and performance decrements are greater in hot environments and in long-lasting exercise. Athletes should begin exercise well hydrated and should drink during exercise to limit water and salt deficits. Many athletes are dehydrated to some degree when they begin exercise. During exercise, most drink less than their sweat losses, some drink too much and a few develop hyponatraemia. Athletes should learn to assess their hydration needs and develop a personalized hydration strategy that takes account of exercise, environment and individual needs. Pre-exercise hydration status can be assessed from urine frequency and volume, with additional information from urine color, specific gravity or osmolality. Changes in hydration status during exercise can be estimated from the change in body mass: sweat rate can be estimated if fluid intake and urinary losses are also measured. Sweat salt losses can be determined by collection and analysis of sweat samples. An appropriate, individualized drinking strategy will take account of pre-exercise hydration status and of fluid, electrolyte and substrate needs before, during and after a period of exercise.

  16. Dehydration-driven topotaxy in subduction zones

    Science.gov (United States)

    Padrón-Navarta, José Alberto; Tommasi, Andréa; Garrido, Carlos J.

    2014-05-01

    Mineral replacement reactions play a fundamental role in the chemistry and the strength of the lithosphere. When externally or internally derived fluids are present, interface-coupled dissolution-precipitation is the driving mechanism for such reactions [1]. One of the microstructural features of this process is a 3D arrangement of crystallographic axes across internal interfaces (topotaxy) between reactant and product phases. Dehydration reactions are a special case of mineral replacement reaction that generates a transient fluid-filled porosity. Among others, the dehydration serpentinite is of special relevance in subduction zones because of the amount of fluids involved (potentially up to 13 wt.%). Two topotatic relationships between olivine and antigorite (the serpentine mineral stable at high temperature and pressure) have been reported in partially hydrated mantle wedge xenoliths [2]. Therefore, if precursor antigorite serpentine has a strong crystallographic preferred orientation (CPO) its dehydration might result in prograde peridotite with a strong inherited CPO. However for predicting the importance of topotactic reactions for seismic anisotropy of subduction zones we also need to consider the crystallization orthopyroxene + chlorite in the prograde reaction and, more importantly, the fact that this dehydration reaction produces a transient porosity of ca. 20 % vol. that results in local fluctuations of strain during compaction and fluid migration. We address this issue by a microstructural comparison between the CPO developed in olivine, orthopyroxene and chlorite during high-pressure antigorite dehydration in piston cylinder experiments (at 750ºC and 20 kbar and 1000ºC and 30 kbar, 168 h) and that recorded in natural samples (Cerro del Almirez, Betic Cordillera, Spain). Experimentally developed CPOs are strong. Prograde minerals show a significant inheritance of the former antigorite foliation. Topotactic relations are dominated by (001)atg//(100)ol

  17. Autosomal recessive hereditary auditory neuropathy

    Institute of Scientific and Technical Information of China (English)

    王秋菊; 顾瑞; 曹菊阳

    2003-01-01

    evidence of peripheral neuropathy at the time of this writing. Conclusions: In this study, patients with feature of non- syndromic hereditary auditory neuropathy were identified in three Chinese families.Pedigree analysis indicates autosomal recessive inheritances in the pedigrees. The observed inheritance and clinical audiologic findings are different from those previously described for non-syndromic low-frequency sensorineural hearing loss. This information should facilitate future molecular candidate genes screening for understanding the mechanism of AN.

  18. Hereditary thrombophilia in cerebral venous thrombosis: a study from India.

    Science.gov (United States)

    Pai, Navin; Ghosh, Kanjaksha; Shetty, Shrimati

    2013-07-01

    A systematic study of thrombophilia markers in a large series of patients with cerebral venous thrombosis (CVT) from India is scarce. The present study was undertaken to know the prevalence of common hereditary thrombophilia in a large series of CVT patients from India. Six hundred and twelve (354 men, 219 women and 39 children) consecutive patients with CVT admitted to various hospitals in Mumbai between 2001 and 2010 were investigated for the common thrombophilia markers, that is, protein C (PC), protein S, antithrombin (AT), and factor V Leiden (FVL) mutation. The main presenting clinical manifestations included papilledema (62%), headache (62%), hemiparesis (48%), seizures (31%), and cranial nerve palsy (7%). All the patients were managed with heparin followed by warfarin during the succeeding 6 months. Superior sagittal sinus thrombosis was the commonest site (74%) followed by cortical venous thrombosis (15%). Associated clinical pathologies were dehydration, sepsis, pregnancy and puerperium, malaria, and tuberculosis; but in the majority of patients, there was no obvious cause. Eighteen percent of the patients had any of the thrombophilia markers studied; PC deficiency was the commonest thrombophilia marker followed by deficiency of protein S, FVL mutation and AT deficiency. The men below 45 years with PC deficiency (P=0.03) and women with protein S deficiency were significantly higher (P=0.04). In conclusion, CVT is not an uncommon cause of neurological deficit as was presented in earlier reports. Pregnancy and puerperium-related CVT was much less common. Thrombophilia markers accounted for approximately one-fifth of the patients. Death due to CVT has shown remarkable reduction (13%) because of early diagnosis and appropriate anticoagulation.

  19. [Hereditary sensory and motor neuropathy and hereditary sensory and autonomic neuropathies: recent advances].

    Science.gov (United States)

    Stojkovic, T

    2011-12-01

    This review summarizes the recent genetic advances in hereditary sensorimotor neuropathy also called Charcot-Marie-Tooth disease. The different new genes discovered in 2010 and their underlying phenotypes will be presented.

  20. Secondary chondrosarcoma: Malignant transformation of pre-existing hereditary and non-hereditary cartilaginous lesions

    Directory of Open Access Journals (Sweden)

    Susanna C.S. Vlok

    2014-12-01

    Full Text Available Secondary chondrosarcoma is a malignant hyaline cartilage tumour originating from a cartilaginous precursor, either osteochondroma or enchondroma. We contrast two different cases of biopsy-proven secondary chondrosarcomas resulting from benign, pre-existing cartilaginous lesions – our aim is to contrast and compare these two benign conditions consisting of multiple cartilaginous lesions – one hereditary and the other non-hereditary – and emphasise their potential for malignant transformation.

  1. Hereditary spherocytosis: Consequences of delayed diagnosis

    Directory of Open Access Journals (Sweden)

    Sarah C Steward

    2014-08-01

    Full Text Available Objective: To determine whether patients with undiagnosed hereditary spherocytosis hospitalized for transfusions might have avoided hospitalization via earlier diagnosis. Study design: Charts of all (N = 30 patients with hereditary spherocytosis seen in pediatric hematology at West Virginia University-Charleston were reviewed. Family and transfusion history and presence of neonatal jaundice were recorded. Complete blood count and reticulocyte values during infancy were available for 20 of 30 patients, while baseline steady-state values were available for all 30. Results: Transfusions were given to 22 patients; 12 of 14 with an aplastic crisis were undiagnosed. In 10 of 12, the severity of anemia led to hospitalization (3 to intensive care. All 10 had prior mean corpuscular hemoglobin concentration and/or red cell distribution width elevations and a history of neonatal jaundice; 7 of 10 had a positive family history. Conclusions: Undiagnosed hereditary spherocytosis may lead to inpatient transfusions for severe anemia. Earlier detection of hereditary spherocytosis is easily achievable and may reduce hospitalizations via closer monitoring.

  2. Gynecologic screening in hereditary nonpolyposis colorectal cancer

    NARCIS (Netherlands)

    Rijcken, FEM; Mourits, MJE; Kleibeuker, JH; Hollema, H; van der Zee, AGJ

    2003-01-01

    Objective. In hereditary nonpolyposis colorectal cancer (HNPCC), women with a mismatch repair (MMR) gene mutation have a cumulative lifetime risk of 25-50% for endometrial cancer and 8-12% for ovarian cancer. Therefore, female members of HNPCC families are offered an annual gynecologic and transvagi

  3. Hereditary periodic fever and reactive amyloidosis.

    NARCIS (Netherlands)

    Hilst, J.C.H. van der; Simon, A.; Drenth, J.P.H.

    2005-01-01

    Hereditary periodic fever syndromes (HPF) are a group of diseases characterised by recurrences of fever and inflammation separated by symptom-free intervals. Familial Mediterranean fever (FMF) is the most frequent entity within this group of disorders which further consists of

  4. Hereditary spherocytosis presenting as indolent leg ulcers

    Directory of Open Access Journals (Sweden)

    Muhammed K

    1997-01-01

    Full Text Available Indolent leg ulcertation, which is the rarest manifestation of hereditary spherocytosis, started at the age of 5 years affecting a 15-year-old boy and his mother is reported. Review of literature showed very few reports from India and abroad. The response to oral folic acid was excellent

  5. [Sudden blindness: consider Leber's hereditary optic neuropathy

    NARCIS (Netherlands)

    Schieving, J.H.; Vries, L.B.A. de; Hol, F.A.; Stroink, H.

    2008-01-01

    In 3 young male patients, aged 10, 19 and 21 years respectively, sequential, severe, painless bilateral visual loss occurred. Ophthalmological examination revealed no other abnormalities and this delayed the diagnosis Leber's hereditary optic neuropathy (LHON). LHON is a mitochondrial genetic diseas

  6. Demyelinating polyneuropathy in Leber hereditary optic neuropathy.

    NARCIS (Netherlands)

    Gilhuis, H.J.; Schelhaas, H.J.; Cruysberg, J.R.M.; Zwarts, M.J.

    2006-01-01

    We report a patient with Leber hereditary optic neuropathy (G11778A mtDNA) and a severe demyelinating neuropathy, for which no other cause except his mitochondrial disorder could be found. The involvement of the peripheral nervous system of patients with LHON, in particular with a 11778 mtDNA, is di

  7. Major and minor form of hereditary hyperekplexia

    NARCIS (Netherlands)

    Tijssen, MAJ; Vergouwe, MN; van Dijk, JG; Rees, M; Frants, RR; Brown, P

    2002-01-01

    Hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. Within the disorder two clinical forms can be distinguished. The major form is characterized by continuous generalized stiffness in the first year of life and an exaggerated startle reflex, accompanied

  8. Clinical management of hereditary colorectal cancer syndromes.

    Science.gov (United States)

    Vasen, Hans F A; Tomlinson, Ian; Castells, Antoni

    2015-02-01

    Hereditary factors are involved in the development of a substantial proportion of all cases of colorectal cancer. Inherited forms of colorectal cancer are usually subdivided into polyposis syndromes characterized by the development of multiple colorectal polyps and nonpolyposis syndromes characterized by the development of few or no polyps. Timely identification of hereditary colorectal cancer syndromes is vital because patient participation in early detection programmes prevents premature death due to cancer. Polyposis syndromes are fairly easy to recognize, but some patients might have characteristics that overlap with other clinically defined syndromes. Comprehensive analysis of the genes known to be associated with polyposis syndromes helps to establish the final diagnosis in these patients. Recognizing Lynch syndrome is more difficult than other polyposis syndromes owing to the absence of pathognomonic features. Most investigators therefore recommend performing systematic molecular analysis of all newly diagnosed colorectal cancer using immunohistochemical methods. The implementation in clinical practice of new high-throughput methods for molecular analysis might further increase the identification of individuals at risk of hereditary colorectal cancer. This Review describes the clinical management of the various hereditary colorectal cancer syndromes and demonstrates the advantage of using a classification based on the underlying gene defects.

  9. Epidemiology of Non-hereditary Angioedema

    DEFF Research Database (Denmark)

    Madsen, Flemming; Attermann, Jorn; Linneberg, Allan

    2012-01-01

    % in the abdominal area, 17% had diarrhoea, 11% had vomiting and 6% fainted during attacks. Non-hereditary angioedema has high lifetime prevalence and becomes chronic in approximately 50% of affected patients. Symptoms in the larynx and throat, as well as non-specific symptoms, such as dizziness and abdominal pain...

  10. Reprogramming development of experimental hereditary hypertension

    NARCIS (Netherlands)

    Koeners, M.P.M.

    2007-01-01

    The aim of the studies described in this thesis was to investigate the development of experimental hereditary hypertension and to persistently ameliorate the development of hypertension due brief interventions during early development (perinatal treatment). We used two different models of experiment

  11. Dehydration and drinking responses in a pelagic sea snake.

    Science.gov (United States)

    Lillywhite, Harvey B; Brischoux, François; Sheehy, Coleman M; Pfaller, Joseph B

    2012-08-01

    Recent investigations of water balance in sea snakes demonstrated that amphibious sea kraits (Laticauda spp.) dehydrate in seawater and require fresh water to restore deficits in body water. Here, we report similar findings for Pelamis platurus, a viviparous, pelagic, entirely marine species of hydrophiine ("true") sea snake. We sampled snakes at Golfo de Papagayo, Guanacaste, Costa Rica and demonstrated they do not drink seawater but fresh water at variable deficits of body water incurred by dehydration. The threshold dehydration at which snakes first drink fresh water is -18.3 ± 1.1 % (mean ± SE) loss of body mass, which is roughly twice the magnitude of mass deficit at which sea kraits drink fresh water. Compared to sea kraits, Pelamis drink relatively larger volumes of water and make up a larger percentage of the dehydration deficit. Some dehydrated Pelamis also were shown to drink brackish water up to 50% seawater, but most drank at lower brackish values and 20% of the snakes tested did not drink at all. Like sea kraits, Pelamis dehydrate when kept in seawater in the laboratory. Moreover, some individuals drank fresh water immediately following capture, providing preliminary evidence that Pelamis dehydrate at sea. Thus, this widely distributed pelagic species remains subject to dehydration in marine environments where it retains a capacity to sense and to drink fresh water. In comparison with sea kraits, however, Pelamis represents a more advanced stage in the evolutionary transition to a fully marine life and appears to be less dependent on fresh water.

  12. Impaired cognitive function and mental performance in mild dehydration.

    Science.gov (United States)

    Wilson, M-M G; Morley, J E

    2003-12-01

    Dehydration is a reliable predictor of impaired cognitive status. Objective data, using tests of cortical function, support the deterioration of mental performance in mildly dehydrated younger adults. Dehydration frequently results in delirium as a manifestation of cognitive dysfunction. Although, the occurrence of delirium suggests transient acute global cerebral dysfunction, cognitive impairment may not be completely reversible. Animal studies have identified neuronal mitochondrial damage and glutamate hypertransmission in dehydrated rats. Additional studies have identified an increase in cerebral nicotinamide adenine dinucleotide phosphate-diaphorase activity (nitric oxide synthase, NOS) with dehydration. Available evidence also implicates NOS as a neurotransmitter in long-term potentiation, rendering this a critical enzyme in facilitating learning and memory. With ageing, a reduction of NOS activity has been identified in the cortex and striatum of rats. The reduction of NOs synthase activity that occurs with ageing may blunt the rise that occurs with dehydration, and possibly interfere with memory processing and cognitive function. Dehydration has been shown to be a reliable predictor of increasing frailty, deteriorating mental performance and poor quality of life. Intervention models directed toward improving outcomes in dehydration must incorporate strategies to enhance prompt recognition of cognitive dysfunction.

  13. Phase transitions on dehydration of the natural zeolite thomsonite

    DEFF Research Database (Denmark)

    Ståhl, Kenny

    2001-01-01

    The dehydration of the natural zeolite thomsonite, Na4CasAl20Si20O80 24H(2)O, has been studied using a combination of conventional and synchrotron X-ray powder diffraction. A preliminary in situ dehydration study revealed two distinct unit cell changes at approximately 540 and 570 K, respectively...

  14. Two-stage dehydration of sugars

    Science.gov (United States)

    Holladay, Johnathan E.; Hu, Jianli; Wang, Yong; Werpy, Todd A.

    2009-11-10

    The invention includes methods for producing dianhydrosugar alcohol by providing an acid catalyst within a reactor and passing a starting material through the reactor at a first temperature. At least a portion of the staring material is converted to a monoanhydrosugar isomer during the passing through the column. The monoanhydrosugar is subjected to a second temperature which is greater than the first to produce a dianhydrosugar. The invention includes a method of producing isosorbide. An initial feed stream containing sorbitol is fed into a continuous reactor containing an acid catalyst at a temperature of less than 120.degree. C. The residence time for the reactor is less than or equal to about 30 minutes. Sorbitol converted to 1,4-sorbitan in the continuous reactor is subsequently provided to a second reactor and is dehydrated at a temperature of at least 120.degree. C. to produce isosorbide.

  15. Response of Chinese Wampee Axes and Maize Embryos to Dehydration at Different Rates

    Institute of Scientific and Technical Information of China (English)

    Hui Huang; Song-Quan Song; Xian-Jin Wu

    2009-01-01

    Survival of wampee (Clausena lansium Sksels) axes and maize (Zea mays L.) embryos decreased with rapid and slow dehydration. Damage of wampee axes by rapid dehydration was much less than by slow dehydration, and that was contrary to maize embryos. The malondialdehyde contents of wampee axes and maize embryos rapidly increased with dehydration, those of wampee axes were lower during rapid dehydration than during slow dehydration, and those of maize embryos were higher during rapid dehydration than during slow dehydration. Activities of superoxide dismutsse (SOD), ascorbate peroxidase (APX) and catalase (CAT) of wampee axes markedly increased during the sady phase of dehydration, and then rapidly decreased, and those of rapidly dehydrated axes were higher than those of slow dehydrated axes when they were dehydrated to low water contents. Activities of SOD and APX of maize embryos notable decreased with dehydration. There were higher SOD activities and lower APX activities of slowly dehydrated maize embryos compared with rapidly dehydrated maize embryos. CAT activities of maize embryos markedly increased during the eady phase of dehydration, and then decreased, and those of slowly dehydrated embryos were higher than those of rapidly dehydrated embryos during the late phase of dehydration.

  16. Influence of dehydration on locally mediated hindlimb vasodilation in baboons.

    Science.gov (United States)

    Thornton, R M; Proppe, D W

    1988-08-01

    Previous studies indicate that the heat stress-induced cutaneous vasodilation in baboons is attenuated during dehydration by mechanisms other than the well-known neurohumoral vasoconstrictor mechanisms. Therefore, this study sought to determine whether dehydration also attenuates locally mediated maximum hindlimb blood flow and vascular conductance in baboons. Five baboons were chronically instrumented to measure arterial blood pressure and mean external iliac artery blood flow (MIBF). Hindlimb vasodilation was induced by occlusions of the external iliac artery for 2.5, 5.0, 7.5, and 10.0 min and by close-arterial injections of acetylcholine (ACh) and sodium nitroprusside (NP) in graded doses. These vasodilatory stimuli were applied in euhydrated and dehydrated states, the latter being produced by water deprivation for 64-68 h. Maximum MIBF and iliac vascular conductance (IVC) after arterial occlusion were reduced by 67-70% during dehydration. Also, maximum MIBF and IVC produced by ACh in the dehydrated state were 46-52% lower than in the euhydrated state. A similar reduction in the responses to NP occurred during dehydration. It is concluded that the maximum hindlimb blood flow and vascular conductance produced by local, nonneurohumoral mechanisms are attenuated in the baboon during dehydration.

  17. Dehydration affects brain structure and function in healthy adolescents.

    Science.gov (United States)

    Kempton, Matthew J; Ettinger, Ulrich; Foster, Russell; Williams, Steven C R; Calvert, Gemma A; Hampshire, Adam; Zelaya, Fernando O; O'Gorman, Ruth L; McMorris, Terry; Owen, Adrian M; Smith, Marcus S

    2011-01-01

    It was recently observed that dehydration causes shrinkage of brain tissue and an associated increase in ventricular volume. Negative effects of dehydration on cognitive performance have been shown in some but not all studies, and it has also been reported that an increased perceived effort may be required following dehydration. However, the effects of dehydration on brain function are unknown. We investigated this question using functional magnetic resonance imaging (fMRI) in 10 healthy adolescents (mean age = 16.8, five females). Each subject completed a thermal exercise protocol and nonthermal exercise control condition in a cross-over repeated measures design. Subjects lost more weight via perspiration in the thermal exercise versus the control condition (P Dehydration following the thermal exercise protocol led to a significantly stronger increase in fronto-parietal blood-oxygen-level-dependent (BOLD) response during an executive function task (Tower of London) than the control condition, whereas cerebral perfusion during rest was not affected. The increase in BOLD response after dehydration was not paralleled by a change in cognitive performance, suggesting an inefficient use of brain metabolic activity following dehydration. This pattern indicates that participants exerted a higher level of neuronal activity in order to achieve the same performance level. Given the limited availability of brain metabolic resources, these findings suggest that prolonged states of reduced water intake may adversely impact executive functions such as planning and visuo-spatial processing.

  18. Cate's Story: Hereditary Diffuse Gastric Cancer.

    Science.gov (United States)

    Rogers, Megan

    2016-08-01

    Gastric cancer is a major cause of cancer-related mortality worldwide and is thought to be responsible for about 10% of cancer-related deaths across the globe. A small proportion of all gastric cancers arise because of a known hereditary syndrome, the most common of which is hereditary diffuse gastric cancer (HDGC). This is an autosomal dominant genetic disease characterized by an increased risk of developing diffuse gastric cancer at a young age. The gene responsible for HDGC is CDH1, also known as E-cadherin, a germline mutation conferring an 80% risk of developing gastric cancer during the lifetime of the carrier. Females with germline CDH1 mutations face an additional risk of developing lobular breast cancer, with a reported cumulative risk of 60% by the age of 80 years.
.

  19. Hereditary diffuse gastric cancer--An overview.

    Science.gov (United States)

    Gurzu, Simona; Jung, Ioan; Orlowska, Janina; Sugimura, Haruhiko; Kadar, Zoltan; Turdean, Sabin; Bara, Tivadar

    2015-09-01

    The incidence of gastric cancer varies by up to ten fold throughout the world, and the geographic distribution of hereditary cases is not well explored. Familial clustering is seen in 10% of cases, and approximately 3% of all gastric cancers develop due to hereditary diffuse gastric cancer (HDGC). In this review, the characteristics of HDGC are presented according to molecular particularities, geographic distribution, and other parameters. Based on our experience and the data from the literature, we discuss the possibility of applying a mutation signature (spectrum) study and adductomic approaches to a comparative carcinogenesis of HDGC. We also provide a comprehensive, up-to-date review of genetic counseling and criteria for screening and surveillance of eligible families.

  20. Hereditary angioedema type I: a case report.

    Science.gov (United States)

    Muñoz Peralta, Francisca; Buller Vigueira, Eva; Cabello Pulido, Juana

    2016-01-28

    Hereditary angioedema is a rare disease with great heterogeneity of symptoms such as edema of the skin, gastro-intestinal mucosa and larynx or pharynx. Even though there are three types, the most frequent is type I, which is a result from a deficiency of the complement C1 inhibitor. The severity of its symptoms along with the low prevalence of the disease and the need for appropriate specific treatment make the diagnosis and treatment of the pathology an outstanding subject for the family physician. The present is the case of a male teenager with alpha-1 antitrypsin deficiency since he was six months old, angioedema on arms and legs since 11 years old and diagnosed with hereditary angioedema type I one year after. The definitive diagnosis of the disease enabled an appropriate treatment which consists in preventing outbreaks that may compromise the patient's life and, if they occur, administration of complement C1 inhibitor.

  1. Hereditary spastic paraplegia with cerebellar ataxia

    DEFF Research Database (Denmark)

    Nielsen, J E; Johnsen, B; Koefoed, P

    2004-01-01

    Complex forms of hereditary spastic paraplegia (HSP) are rare and usually transmitted in an autosomal recessive pattern. A family of four generations with autosomal dominant hereditary spastic paraplegia (AD-HSP) and a complex phenotype with variably expressed co-existing ataxia, dysarthria...... in those individuals who were clinically affected by a complex phenotype consisting of HSP and cerebellar ataxia. Other features noted in this kindred including epilepsy, cognitive impairment, depression, and migraine did not segregate with the HSP phenotype or mutation, and therefore the significance...... relatively decreased regional cerebral blood flow in most of the cerebellum. We conclude that this kindred demonstrates a considerable overlap between cerebellar ataxia and spastic paraplegia, emphasizing the marked clinical heterogeneity of HSP associated with spastin mutations....

  2. The biochemical basis of hereditary fructose intolerance.

    Science.gov (United States)

    Bouteldja, Nadia; Timson, David J

    2010-04-01

    Hereditary fructose intolerance is a rare, but potentially lethal, inherited disorder of fructose metabolism, caused by mutation of the aldolase B gene. Treatment currently relies solely on dietary restriction of problematic sugars. Biochemical study of defective aldolase B enzymes is key to revealing the molecular basis of the disease and providing a stronger basis for improved treatment and diagnosis. Such studies have revealed changes in enzyme activity, stability and oligomerisation. However, linking these changes to disease phenotypes has not always been straightforward. This review gives a general overview of the features of hereditary fructose intolerance, then concentrates on the biochemistry of the AP variant (Ala149Pro variant of aldolase B) and molecular pathological consequences of mutation of the aldolase B gene.

  3. Distal renal tubular acidosis with hereditary spherocytosis.

    Science.gov (United States)

    Sinha, Rajiv; Agarwal, Indira; Bawazir, Waleed M; Bruce, Lesley J

    2013-07-01

    Hereditary spherocytosis (HS) and distal renal tubular acidosis (dRTA), although distinct entities, share the same protein i.e. the anion exchanger1 (AE1) protein. Despite this, their coexistence has been rarely reported. We hereby describe the largest family to date with co-existence of dRTA and HS and discuss the molecular basis for the co-inheritance of these conditions.

  4. Hereditary angioedema:44 years of diagnostic delay

    OpenAIRE

    Peterson, M.P.; Bygum, A

    2016-01-01

    We report a 64-year-old man who suffered from recurrent visible swelling attacks since the age of 20 as well as episodes with severe upper airway edema, resulting in 4 emergency tracheotomies. Eventually after 44 years he was diagnosed with hereditary angioedema (HAE) type II. The aims of this report is to emphasize the importance of awareness concerning HAE, which does not respond to traditional anti-allergic therapy, and remind physicians to test for functional C1-INH deficiency.

  5. Hereditary chin tremor in Parkinson's disease.

    Science.gov (United States)

    Erer, Sevda; Jankovic, Joseph

    2007-11-01

    Hereditary chin tremor (HCT) is characterized by rhythmical, involuntary movements of the chin muscles usually inherited in an autosomal dominant pattern. We describe a 74-year old man with familial, childhood-onset chin tremor, and a 3-year history of progressive hand tremor, gait difficulty, and other parkinsonian features. Since chin tremor often occurs in Parkinson's disease (PD), a coexistent HCT may not be recognized unless past and family history of tremor is carefully explored.

  6. Hereditary Transthyretin Amyloidosis in Eight Chinese Families

    Institute of Scientific and Technical Information of China (English)

    Ling-Chao Meng; He Lyu; Wei Zhang; Jing Liu; Zhao-Xia Wang; Yun Yuan

    2015-01-01

    Background:Mutations of transthyretin (TTR) cause the most common type of autosomal-dominant hereditary systemic amyloidosis,which occurs worldwide.To date,more and more mutations in the TTR gene have been reported.Some variations in the clinical presentation are often observed in patients with the same mutation or the patients in the same family.The purpose of this study was to find out the clinicopathologic and genetic features of Chinese patients with hereditary TTR amyloidosis.Methods:Clinical and necessary examination materials were collected from nine patients of eight families with hereditary TTR amyloidosis at Peking University First Hospital from January 2007 to November 2014.Sural nerve biopsies were taken for eight patients and skin biopsies were taken in the calf/upper arm for two patients,for light and electron microscopy examination.The TTR genes from the nine patients were analyzed.Results:The onset age varied from 23 to 68 years.The main manifestations were paresthesia,proximal and/or distal weakness,autonomic dysfunction,cardiomyopathy,vitreous opacity,hearing loss,and glossohypertrophia.Nerve biopsy demonstrated severe loss ofmyelinated fibers in seven cases and amyloid deposits in three.One patient had skin amyloid deposits which were revealed from electron microscopic examination.Genetic analysis showed six kinds of mutations of TTR gene,including Val30Met,Phe33Leu,Ala36Pro,Val30Ala,Phe33Val,and Glu42Gly in exon 2.Conclusions:Since the pathological examinations of sural nerve were negative for amyloid deposition in most patients,the screening for TTR mutations should be performed in all the adult patients,who are clinically suspected with hereditary TTR amyloidosis.

  7. Leber hereditary optic neuropathy mimicking neuromyelitis optica.

    Science.gov (United States)

    McClelland, Collin M; Van Stavern, Gregory P; Tselis, Alex C

    2011-09-01

    Leber hereditary optic neuropathy (LHON) is rarely associated with multiple sclerosis-like features. We present a case of a 65-year-old African American woman with LHON masquerading as neuromyelitis optica (NMO). We highlight the features of the clinical examination and MRI that were suggestive of an alternative diagnosis and review the literature regarding LHON and multiple sclerosis. The diagnosis of LHON should be considered in all cases of acute or subacute bilateral optic neuropathy, including presumed seronegative NMO.

  8. USE OF COPPER SULFATE FOR DEHYDRATION OF INDUSTRIAL ALCOHOL

    OpenAIRE

    Reyna Mariñas, Leoncio; Facultad de Química e lng. Química, Universidad Nacional Mayor de San Marcos, Lima Peru; Chuquilín Terán, Carlos; Facultad de Química e lng. Química, Universidad Nacional Mayor de San Marcos, Lima Peru

    2014-01-01

    The objective of the work is to obtain alcohol dehydrated from rectified alcohol industrialist of 96º G.L., using copper sulphate, second composed was selected to make the work by its easy separation and recovery. The time required for the total dehydration of the alcohol was 60 minutes. The purity of the dehydrated alcohol was verified by measurement of its refractive index and by comparison with a pattern MERCK and 100 G.L. to 24ºC. El objetivo del trabajo es mostrar el uso del sulfato d...

  9. Change in hydrogen bonding structures of a hydrogel with dehydration

    Science.gov (United States)

    Naohara, Ryo; Narita, Kentaro; Ikeda-Fukazawa, Tomoko

    2017-02-01

    To investigate the mechanisms of structural changes in polymer network and water during dehydration, X-ray diffraction of poly-N,N-dimethylacrylamide (PDMAA) hydrogels was measured. The variation process in the individual structures of water and PDMAA were analyzed by decomposition of the diffraction patterns to separate the respective contributions. The results show that the short-range structures of PDMAA expand during dehydration, whereas the network structure as a whole shrinks. The average length of the hydrogen bonds between water molecules increases with the process. The present results provide a direct evidence of the structural changes of water and polymer in the hydrogel during dehydration.

  10. Characteristics of a Supersonic Swirling Dehydration System of Natural Gas

    Institute of Scientific and Technical Information of China (English)

    刘恒伟; 刘中良; 冯永训; 顾克宇; 颜廷敏

    2005-01-01

    A new type of dehydration unit for natural gas was briefly described and its basic structure and working principles were presented. An indoor test rig for testing the unit performance was set up and the experimental results were given. The results showed that the unit could attain a maximum dew point depression of about 20~C without any need of external mechanical power and chemicals. The pressure loss ratio, shock wave and the flow rate had great influence on the dehydration characteristics. From the systematic analysis of the factors that affect the dehydration efficiency of the unit, the suggestions for improving the unit are put forward.

  11. Medical management of hereditary optic neuropathies

    Directory of Open Access Journals (Sweden)

    Chiara eLa Morgia

    2014-07-01

    Full Text Available Hereditary optic neuropathies are diseases of the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e. the maternally inherited Leber’s Hereditary Optic Neuropathy (LHON and Dominant Optic Atrophy (DOA. They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1 and 14484/ND6 for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone. Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising venue that still needs to be validated.

  12. Medical Management of Hereditary Optic Neuropathies

    Science.gov (United States)

    La Morgia, Chiara; Carbonelli, Michele; Barboni, Piero; Sadun, Alfredo Arrigo; Carelli, Valerio

    2014-01-01

    Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber’s hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA). They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is characterized by an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1, and 14484/ND6) for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are still limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone). Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising avenue that still needs to be validated. PMID:25132831

  13. Medical management of hereditary optic neuropathies.

    Science.gov (United States)

    La Morgia, Chiara; Carbonelli, Michele; Barboni, Piero; Sadun, Alfredo Arrigo; Carelli, Valerio

    2014-01-01

    Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA). They both share a mitochondrial pathogenesis that leads to the selective loss of retinal ganglion cells and axons, in particular of the papillo-macular bundle. Typically, LHON is characterized by an acute/subacute loss of central vision associated with impairment of color vision and swelling of retinal nerve fibers followed by optic atrophy. DOA, instead, is characterized by a childhood-onset and slowly progressive loss of central vision, worsening over the years, leading to optic atrophy. The diagnostic workup includes neuro-ophthalmologic evaluation and genetic testing of the three most common mitochondrial DNA mutations affecting complex I (11778/ND4, 3460/ND1, and 14484/ND6) for LHON and sequencing of the nuclear gene OPA1 for DOA. Therapeutic strategies are still limited including agents that bypass the complex I defect and exert an antioxidant effect (idebenone). Further strategies are aimed at stimulating compensatory mitochondrial biogenesis. Gene therapy is also a promising avenue that still needs to be validated.

  14. [The role of the immune system in hereditary demyelinating neuropathies].

    Science.gov (United States)

    Mäurer, M; Toyka, K V; Martini, R

    2005-06-01

    Hereditary neuropathies, e.g., Charcot-Marie-Tooth (CMT) disease, are inherited diseases of the peripheral nervous system causing chronic progressive motor and sensory dysfunction. Most neuropathies are due to mutations in myelin genes such as PMP22, P0, and the gap junction protein Cx32. Myelin mutant mice are regarded as suitable animal models for several forms of hereditary neuropathies and are important neurobiological tools for the evaluation of pathogenetic and therapeutic concepts in hereditary neuropathies. Using these animal models we could recently show that the immune system is involved in the pathogenesis of hereditary neuropathies. Due to the phenotypic similarities we also consider the immune system important for human inherited neuropathies, in particular since several case reports demonstrate a beneficial effect of immune therapies in patients with hereditary neuropathies. In this review we compare findings from animal models and human disease to elucidate the role of the immune system in hereditary neuropathies.

  15. DMSO Induces Dehydration near Lipid Membrane Surfaces

    Science.gov (United States)

    Cheng, Chi-Yuan; Song, Jinsuk; Pas, Jolien; Meijer, Lenny H.H.; Han, Songi

    2015-01-01

    Dimethyl sulfoxide (DMSO) has been broadly used in biology as a cosolvent, a cryoprotectant, and an enhancer of membrane permeability, leading to the general assumption that DMSO-induced structural changes in cell membranes and their hydration water play important functional roles. Although the effects of DMSO on the membrane structure and the headgroup dehydration have been extensively studied, the mechanism by which DMSO invokes its effect on lipid membranes and the direct role of water in this process are unresolved. By directly probing the translational water diffusivity near unconfined lipid vesicle surfaces, the lipid headgroup mobility, and the repeat distances in multilamellar vesicles, we found that DMSO exclusively weakens the surface water network near the lipid membrane at a bulk DMSO mole fraction (XDMSO) of DMSO was found to effectively destabilize the hydration water structure at the lipid membrane surface at XDMSO 0.1, DMSO enters the lipid interface and restricts the lipid headgroup motion. We postulate that DMSO acts as an efficient cryoprotectant even at low concentrations by exclusively disrupting the water network near the lipid membrane surface, weakening the cohesion between water and adhesion of water to the lipid headgroups, and so mitigating the stress induced by the volume change of water during freeze-thaw. PMID:26200868

  16. Brazilian guidelines for the diagnosis and treatment of hereditary angioedema

    OpenAIRE

    Pedro Giavina-Bianchi; Alfeu T. França; GRUMACH, Anete S.; Abílio A Motta; Fátima R Fernandes; Regis A. Campos; Solange O Valle; Rosário, Nelson A.; Dirceu Sole

    2011-01-01

    Hereditary angioedema is an autosomal dominant disease characterized by edema attacks with multiple organ involvement. It is caused by a quantitative or functional deficiency of the C1 inhibitor, which is a member of the serine protease inhibitor family. Hereditary angioedema is unknown to many health professionals and is therefore an underdiagnosed disease. The causes of death from hereditary angioedema include laryngeal edema with asphyxia. The estimated mortality rate in patients in whom t...

  17. Non responsive celiac disease due to coexisting hereditary fructose intolerance.

    Science.gov (United States)

    Bharadia, Lalit; Shivpuri, Deepak

    2012-04-01

    Celiac disease is associated with several genetic disorders, but its association with hereditary fructose intolerance is rare. Hereditary fructose intolerance is a rare autosomal recessive disease of fructose metabolism presenting as vomiting after intake of fructose. An association between these two distinct genetic gastrointestinal disorders is important as treatment failure of celiac disease calls for careful evaluation for hereditary fructose intolerance. We report a patient with an association of these two disorders.

  18. Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.

    Science.gov (United States)

    Lukacs, Viktor; Mathur, Jayanti; Mao, Rong; Bayrak-Toydemir, Pinar; Procter, Melinda; Cahalan, Stuart M; Kim, Helen J; Bandell, Michael; Longo, Nicola; Day, Ronald W; Stevenson, David A; Patapoutian, Ardem; Krock, Bryan L

    2015-09-21

    Piezo1 ion channels are mediators of mechanotransduction in several cell types including the vascular endothelium, renal tubular cells and erythrocytes. Gain-of-function mutations in PIEZO1 cause an autosomal dominant haemolytic anaemia in humans called dehydrated hereditary stomatocytosis. However, the phenotypic consequence of PIEZO1 loss of function in humans has not previously been documented. Here we discover a novel role of this channel in the lymphatic system. Through whole-exome sequencing, we identify biallelic mutations in PIEZO1 (a splicing variant leading to early truncation and a non-synonymous missense variant) in a pair of siblings affected with persistent lymphoedema caused by congenital lymphatic dysplasia. Analysis of patients' erythrocytes as well as studies in a heterologous system reveal greatly attenuated PIEZO1 function in affected alleles. Our results delineate a novel clinical category of PIEZO1-associated hereditary lymphoedema.

  19. Inhibiting Plasma Kallikrein for Hereditary Angioedema Prophylaxis.

    Science.gov (United States)

    Banerji, Aleena; Busse, Paula; Shennak, Mustafa; Lumry, William; Davis-Lorton, Mark; Wedner, Henry J; Jacobs, Joshua; Baker, James; Bernstein, Jonathan A; Lockey, Richard; Li, H Henry; Craig, Timothy; Cicardi, Marco; Riedl, Marc; Al-Ghazawi, Ahmad; Soo, Carolyn; Iarrobino, Ryan; Sexton, Daniel J; TenHoor, Christopher; Kenniston, Jon A; Faucette, Ryan; Still, J Gordon; Kushner, Harvey; Mensah, Robert; Stevens, Chris; Biedenkapp, Joseph C; Chyung, Yung; Adelman, Burt

    2017-02-23

    Background Hereditary angioedema with C1 inhibitor deficiency is characterized by recurrent, unpredictable swelling episodes caused by uncontrolled plasma kallikrein generation and excessive bradykinin release resulting from cleavage of high-molecular-weight kininogen. Lanadelumab (DX-2930) is a new kallikrein inhibitor with the potential for prophylactic treatment of hereditary angioedema with C1 inhibitor deficiency. Methods We conducted a phase 1b, multicenter, double-blind, placebo-controlled, multiple-ascending-dose trial. Patients with hereditary angioedema with C1 inhibitor deficiency were randomly assigned in a 2:1 ratio to receive either lanadelumab (24 patients) or placebo (13 patients), in two administrations 14 days apart. Patients assigned to lanadelumab were enrolled in sequential dose groups: total dose of 30 mg (4 patients), 100 mg (4 patients), 300 mg (5 patients), or 400 mg (11 patients). The pharmacodynamic profile of lanadelumab was assessed by measurement of plasma levels of cleaved high-molecular-weight kininogen, and efficacy was assessed by the rate of attacks of angioedema during a prespecified period (day 8 to day 50) in the 300-mg and 400-mg groups as compared with the placebo group. Results No discontinuations occurred because of adverse events, serious adverse events, or deaths in patients who received lanadelumab. The most common adverse events that emerged during treatment were attacks of angioedema, injection-site pain, and headache. Dose-proportional increases in serum concentrations of lanadelumab were observed; the mean elimination half-life was approximately 2 weeks. Lanadelumab at a dose of 300 mg or 400 mg reduced cleavage of high-molecular-weight kininogen in plasma from patients with hereditary angioedema with C1 inhibitor deficiency to levels approaching that from patients without the disorder. From day 8 to day 50, the 300-mg and 400-mg groups had 100% and 88% fewer attacks, respectively, than the placebo group. All

  20. Effects of dehydration on performance in man: Annotated bibliography

    Science.gov (United States)

    Greenleaf, J. E.

    1973-01-01

    A compilation of studies on the effect of dehydration on human performance and related physiological mechanisms. The annotations are listed in alphabetical order by first author and cover material through June 1973.

  1. Voluntary dehydration and cognitive performance in trained college athletes.

    Science.gov (United States)

    D'anci, Kristen E; Vibhakar, Arjun; Kanter, Jordan H; Mahoney, Caroline R; Taylor, Holly A

    2009-08-01

    Cognitive and mood decrements resulting from mild dehydration and glucose consumption were studied. Men and women (total N = 54; M age = 19.8 yr., SD = 1.2) were recruited from college athletic teams. Euhydration or dehydration was achieved by athletes completing team practices with or without water replacement. Dehydration was associated with higher thirst and negative mood ratings as well as better Digit Span performance. Participants showed better Vigilance Attention with euhydration. Hydration status and athlete's sex interacted with performance on Choice Reaction Time and Vigilance Attention. In a second study, half of the athletes received glucose prior to cognitive testing. Results for negative mood and thirst ratings were similar, but for cognitive performance the results were mixed. Effects of glucose on cognition were independent of dehydration.

  2. Pervaporation : membranes and models for the dehydration of ethanol

    NARCIS (Netherlands)

    Spitzen, Johannes Wilhelmus Franciscus

    1988-01-01

    In this thesis the dehydration of ethanol/water mixtures by pervaporation using homogeneous membranes is studied. Both the general transport mechanism as well as the development of highly selective membranes for ethanol/water separation are investigated.

  3. Active dehydration impairs upper and lower body anaerobic muscular power.

    Science.gov (United States)

    Jones, Leon C; Cleary, Michelle A; Lopez, Rebecca M; Zuri, Ron E; Lopez, Richard

    2008-03-01

    We examined the effects of active dehydration by exercise in a hot, humid environment on anaerobic muscular power using a test-retest (euhydrated and dehydrated) design. Seven subjects (age, 27.1 +/- 4.6 years; mass, 86.4 +/- 9.5 kg) performed upper and lower body Wingate anaerobic tests prior to and after a 1.5-hour recovery from a heat stress trial of treadmill exercise in a hot, humid environment (33.1 +/- 3.1C = 55.1 +/- 8.9% relative humidity) until a 3.1 +/- 0.3% body mass loss was achieved. Dehydration was confirmed by a significant body mass loss (P dehydrated compared to the euhydrated condition. Compared to the euhydrated condition, the dehydrated condition mean power was significantly (P = 0.014) decreased 7.17% in the upper body and 19.20% in the lower body. Compared to the euhydrated condition, the dehydrated condition peak power was significantly (P = 0.013) decreased 14.48% in the upper body and 18.36% in the lower body. No significant differences between the euhydrated and dehydrated conditions were found for decrease in power output (P = 0.219, power = 0.213). Our findings suggest that dehydration of 2.9% body mass decreases the ability to generate upper and lower body anaerobic power. Coaches and athletes must understand that sports performance requiring anaerobic strength and power can be impaired by inadequate hydration and may contribute to increased susceptibility to musculoskeletal injury.

  4. Cryopreservation of coffee zygotic embryos: dehydration and osmotic rehydration

    Directory of Open Access Journals (Sweden)

    Maísa de Siqueira Pinto

    Full Text Available ABSTRACT Conservation of plant genetic resources is important to prevent genetic erosion. Seed banks are the most common method of ex situ conservation; however, coffee seeds can not be stored by conventional methods. Cryopreservation is a viable alternative for long-term conservation of species that produce intermediate or recalcitrant seeds, as coffee. The aim of this work was to cryopreserve Coffea arabica L. cv Catuaí Vermelho IAC 144 zygotic embryos, and analyse the effects of dehydration prior cryopreservation and osmotic rehydration after thawing, in embryos germination and seedlings formation after cryopreservation. Prior to cryopreservation, different dehydration times (0, 15, 30, 60 and 120 min were tested. Dehydrated embryos were cryopreserved in liquid nitrogen for 1 hour, and after thawing were rehydrated by osmotic solutions. Dehydrated and non-cryopreserved embryos were also analysed. The test with 2,3,5 triphenyl tetrazolium chloride (TTC was used to evaluate the embryos viability. Non-dehydrated embryos did not survive after freezing. Embryos that were dehydrated until 20% of the moisture content did not germinate when osmotic rehydration was not performed. In contrast, cryopreserved embryos with the same moisture content presented 98% germination when they were rehydrated slowly in osmotic solution. According to tetrazolium tests, embryos presented maximum viability (75% after dehydration for 60 minutes (23% moisture content. Therefore, coffee zygotic embryos (Coffea arabica L. cv. Catuaí Vermelho can be successfully cryopreserved using physical dehydration in silica gel for 60 minutes (23% moisture content, followed by osmotic rehydration after thawing. This method allowed a germination of 98% of cryopreserved zygotic embryos.

  5. Traditional Male Circumcision: Ways to Prevent Deaths Due to Dehydration.

    Science.gov (United States)

    Douglas, Mbuyiselo; Maluleke, Thelmah Xavela

    2016-02-01

    Deaths of initiates occurring in the circumcision initiation schools are preventable. Current studies list dehydration as one of the underlying causes of deaths among traditional male circumcision initiates in the Eastern Cape, a province in South Africa, but ways to prevent dehydration in the initiation schools have not been adequately explored. The goals of this study were to (a) explore the underlying determinants of dehydration among initiates aged from 12 to 18 years in the traditional male circumcision initiation schools and (b) determine knowledge of participants on the actions to be taken to prevent dehydration. The study was conducted at Libode, a rural area falling under Nyandeni municipality. A simple random sampling was used to select three focus group discussions with 36 circumcised boys. A purposive sampling was used to select 10 key informants who were matured and experienced people with knowledge of traditional practices and responsible positions in the communities. The research findings indicate that the practice has been neglected to inexperienced, unskillful, and abusive traditional attendants. The overall themes collated included traditional reasons for water restriction, imbalanced food nutrients given to initiates, poor environmental conditions in the initiation hut, and actions that should be taken to prevent dehydration. This article concludes with discussion and recommendation of ways to prevent dehydration of initiates in the form of a comprehensive circumcision health promotion program.

  6. Whole transcriptome organisation in the dehydrated supraoptic nucleus

    Directory of Open Access Journals (Sweden)

    C.C.T. Hindmarch

    2013-12-01

    Full Text Available The supraoptic nucleus (SON is part of the central osmotic circuitry that synthesises the hormone vasopressin (Avp and transports it to terminals in the posterior lobe of the pituitary. Following osmotic stress such as dehydration, this tissue undergoes morphological, electrical and transcriptional changes to facilitate the appropriate regulation and release of Avp into the circulation where it conserves water at the level of the kidney. Here, the organisation of the whole transcriptome following dehydration is modelled to fit Zipf's law, a natural power law that holds true for all natural languages, that states if the frequency of word usage is plotted against its rank, then the log linear regression of this is -1. We have applied this model to our previously published euhydrated and dehydrated SON data to observe this trend and how it changes following dehydration. In accordance with other studies, our whole transcriptome data fit well with this model in the euhydrated SON microarrays, but interestingly, fit better in the dehydrated arrays. This trend was observed in a subset of differentially regulated genes and also following network reconstruction using a third-party database that mines public data. We make use of language as a metaphor that helps us philosophise about the role of the whole transcriptome in providing a suitable environment for the delivery of Avp following a survival threat like dehydration.

  7. THE FUNCTIONAL ARCHITECTURE OF DEHYDRATION-ANOREXIA

    Science.gov (United States)

    Watts, Alan G.; Boyle, Christina N.

    2010-01-01

    The anorexia that accompanies the drinking of hypertonic saline (DE-anorexia) is a critical adaptive behavioral mechanism that helps protect the integrity of fluid compartments during extended periods of cellular dehydration. Feeding is rapidly reinstated once drinking water is made available again. The relative simplicity and reproducibility of these behaviors makes DE-anorexia a very useful model for investigating how the various neural networks that control ingestive behaviors first suppress and then reinstate feeding. We show that DE-anorexia develops primarily because the mechanisms that terminate ongoing meals are upregulated in such a way as to significantly reduce meal size. At the same time however, signals generated by the ensuing negative energy balance appropriately activate neural mechanisms that can increase food intake. But as the output from these two competing processes is integrated, the net result is an increasing reduction of nocturnal food intake, despite the fact that spontaneous meals are initiated with the same frequency as in control animals. Furthermore, hypothalamic NPY injections also stimulate feeding in DE-anorexic animals with the same latency as controls, but again meals are prematurely terminated. Comparing Fos expression patterns across the brain following 2-deoxyglucose administration to control and DE-anorexic animals implicates neurons in the descending part of the parvicellular paraventricular nucleus of the hypothalamus and the lateral hypothalamic areas as key components of the networks that control DE-anorexia. Finally, DE-anorexia generates multiple inhibitory processes to suppress feeding. These are differentially disengaged once drinking water is reinstated. PMID:20399797

  8. Management of hereditary angioedema: 2010 Canadian approach

    Directory of Open Access Journals (Sweden)

    Bowen Tom

    2010-07-01

    Full Text Available Abstract C1-inhibitor (C1-INH deficiency is a rare blood disorder resulting in angioedema attacks that are debilitating and may be life-threatening. Prophylaxis and therapy of events has changed since our first Canadian Consensus Conference on the diagnosis, therapy and management of HAE. We have formed the Canadian Hereditary Angioedema Network (CHAEN/Réseau Canadien d'Angioédème Héréditaire (RCAH - http://www.haecanada.com to advance care of patients with this disorder in Canada. We here present a review of management of HAE in Canada.

  9. Skin deposits in hereditary cystatin C amyloidosis

    DEFF Research Database (Denmark)

    Benedikz, Eirikur; Blöndal, H; Gudmundsson, G

    1990-01-01

    Clinically normal skin from 47 individuals aged 9-70 years was investigated. Cystatin C amyloid deposits were found in various locations of the skin by light and/or electron microscopy, in all 12 patients with a clinical history of hereditary cystatin C amyloidosis (HCCA). Six asymptomatic...... individuals, who had the Alu 1 restriction fragment length polymorphism (RFLP) marker reported to cosegregate with the disease, also had cystatin C amyloid deposits in the skin. Three asymptomatic individuals (age 17-46) belonging to the HCCA families were without amyloid in the skin but had Alu 1 RFLP marker...

  10. The arthropathy of hereditary arthroophthalmopathy (Stickler syndrome).

    Science.gov (United States)

    Lewkonia, R M

    1992-08-01

    Hereditary arthroophthalmopathy (Stickler syndrome) is an autosomal dominant syndrome characterized by musculoskeletal, ophthalmic and dysmorphic facial features. A family is described illustrating diverse expressions of Stickler syndrome, including abnormalities not directly attributable to mutation of the type II procollagen gene. A review of the literature demonstrates a range of articular problems, several of which are not specific to Stickler syndrome, and might be encountered in either adult or pediatric rheumatology practice. Stickler syndrome may be underrecognized by rheumatologists, particularly if the significance of nonarticular clinical features or a positive family history are not appreciated.

  11. Platelet Function in Basset Hound Hereditary Thrombopathy.

    Science.gov (United States)

    1986-01-01

    Hematol, 17(4),242-258, 1980. 5. CHARO, I.F., FEINMAN , R.D., DETWILER, T.C. Interrelation of platelet aggregation and secretion. J. Clin. Invest...of dogs affected with Basset Hound Hereditary Thrombopathy. Thromb Au, 3, 61-71, 1985. 4. DETWILER, T.C., CHARO, I.F., AND FEINMAN , R.D. Evidence...glycoproteins. Surv Synth Path Res 1:274, 1983. Charo IF, Feinman RD, and Detwiler TC. Interrelation of platelet aggregation and secretion. J Clin Invest 60

  12. The humanistic burden of hereditary angioedema

    DEFF Research Database (Denmark)

    Caballero, Teresa; Aygören-Pürsün, Emel; Bygum, Anette

    2014-01-01

    and impact of HAE types I and II from the patient perspective. The HAE Burden of Illness Study in Europe was conducted in Spain, Germany, and Denmark to assess the real-world experience of HAE from the patient perspective via a one-time survey, which included items on clinical characteristics and physical......Hereditary angioedema (HAE) is a rare but potentially life-threatening disease marked by spontaneous, recurrent attacks of swelling. The broad range of consequences of HAE on patients? lives is not well understood. The study objective was to comprehensively characterize the burden of illness...

  13. Hereditary mucoepithelial dysplasia and severe respiratory distress

    Directory of Open Access Journals (Sweden)

    Mahmoud Halawa

    2015-01-01

    Full Text Available Hereditary mucoepithelial dysplasia (HMD is a rare autosomal dominant disorder characterized by mucoepithelial disruption of the skin, hair and mucous membranes. It results from defective gap junction formation and leads to non-scarring alopecia, mucosal erythema, perineal erythematous intertrigo, involvement of the conjunctival mucosa, and pulmonary disease. We present a case of severe respiratory distress in an initially healthy full term infant born to a mother with HMD. This infant later developed signs and symptoms of HMD. A high index of suspicion for pulmonary infection with atypical organism is essential in infants with a family history of HMD who present with respiratory distress.

  14. Multiple mechanisms for hereditary sideroblastic anemia.

    Science.gov (United States)

    Furuyama, Kazumichi; Sassa, Shigeru

    2002-02-01

    Hereditary sideroblastic anemia (HSA) is a heterogeneous group of inherited anemic disorders which is characterized by the presence of ringed sideroblasts in the bone marrow, microcytic hypochromic anemia and typically its X-linked inheritance in patients. It has been shown that a deficiency of the erythroid-specific delta-aminolevulinate synthase (ALAS-E) activity is responsible for pyridoxine-responsive HSA in many patients, however, the pathogenesis of other types of HSA remains still unknown. In this article, recent evidence suggesting multiple causes for HSA is summarized and discussed.

  15. Moyamoya Syndrome Associated With Hereditary Spherocytosis: An Emerging Clinical Entity.

    Science.gov (United States)

    Gait-Carr, Eleanor; Connolly, Daniel J A; King, David

    2017-04-01

    Moyamoya syndrome is an unusual cerebrovascular disorder, which has rarely been reported in association with hereditary spherocytosis. We present the case of a 6-year-old boy with hereditary spherocytosis who was diagnosed with Moyamoya syndrome following a stroke. We discuss why these conditions may coexist and briefly outline the management of such children.

  16. [DNA-based diagnosis of hereditary tumour predisposition

    NARCIS (Netherlands)

    Menko, F.H.; Ligtenberg, M.J.L.; Brouwer, T.; Hahn, D.E.; Ausems, M.G.E.M.

    2007-01-01

    Of all forms of cancer, approximately 5% are caused by factors leading to a strong genetic predisposition. DNA diagnosis is currently used in families with hereditary tumour syndromes, such as familial adenomatous polyposis, hereditary non-polyposis colorectal carcinoma (Lynch syndrome), and heredit

  17. [Hereditary haemochromatosis: novel genes, novel diseases and hepcidin

    NARCIS (Netherlands)

    Bergmans, J.P.; Kemna, E.H.J.M.; Janssen, M.C.; Jacobs, E.M.G.; Stalenhoef, A.F.H.; Marx, J.J.M.; Swinkels, D.W.

    2007-01-01

    Since the discovery of the HFE gene of hereditary haemochromatosis in 1996 several new genetic defects have been identified, enabling explanation of the cause and variety of this disease. To date, at least 5 major types of hereditary haemochromatosis have been recognised. All these genes encode for

  18. Cerebral abscesses among Danish patients with hereditary haemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Tørring, P M; Nissen, H;

    2013-01-01

    Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs), which due to paradoxical embolization may cause cerebral abscess.......Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by a wide variety of clinical manifestations, including pulmonary arteriovenous malformations (PAVMs), which due to paradoxical embolization may cause cerebral abscess....

  19. Microcrystalline hexagonal tungsten bronze. 2. Dehydration dynamics.

    Science.gov (United States)

    Luca, Vittorio; Griffith, Christopher S; Hanna, John V

    2009-07-06

    Low-temperature (25-600 degrees C) thermal transformations have been studied for hydrothermally prepared, microcrystalline hexagonal tungsten bronze (HTB) phases A(x)WO(3+x/2).zH(2)O as a function of temperature, where A is an exchangeable cation (in this case Na(+) or Cs(+)) located in hexagonal structural tunnels. Thermal treatment of the as-prepared sodium- and cesium-exchanged phases in air were monitored using a conventional laboratory-based X-ray diffractometer, while thermal transformations in vacuum were studied using synchrotron X-ray and neutron diffraction. Concurrent thermogravimetric, diffuse reflectance infrared (DRIFT), and (23)Na and (133)Cs magic angle spinning (MAS) NMR spectroscopic studies have also been undertaken. For the cesium variant, cell volume contraction occurred from room temperature to about 350 degrees C, the regime in which water was "squeezed" out of tunnel sites. This was followed by a lattice expansion in the 350-600 degrees C temperature range. Over the entire temperature range, a net thermal contraction was observed, and this was the result of an anisotropic change in the cell dimensions which included a shortening of the A-O2 bond length. These changes explain why Cs(+) ions are locked into tunnel positions at temperatures as low as 400 degrees C, subsequently inducing a significant reduction in Cs(+) extractability under low pH (nitric acid) conditions. The changing Cs(+) speciation as detected by (133)Cs MAS NMR showed a condensation from multiple Cs sites, presumably associated with differing modes of Cs(+) hydration in the tunnels, to a single Cs(+) environment upon thermal transformation and water removal. While similar lattice contraction was observed for the as-prepared sodium variant, the smaller radius of Na(+) caused it to be relatively easily removed with acid in comparison to the Cs(+) variant. From (23)Na MAS NMR studies of the parent material, complex Na(+) speciation was observed with dehydrated and various

  20. Mild dehydration impairs cognitive performance and mood of men.

    Science.gov (United States)

    Ganio, Matthew S; Armstrong, Lawrence E; Casa, Douglas J; McDermott, Brendon P; Lee, Elaine C; Yamamoto, Linda M; Marzano, Stefania; Lopez, Rebecca M; Jimenez, Liliana; Le Bellego, Laurent; Chevillotte, Emmanuel; Lieberman, Harris R

    2011-11-01

    The present study assessed the effects of mild dehydration on cognitive performance and mood of young males. A total of twenty-six men (age 20·0 (sd 0·3) years) participated in three randomised, single-blind, repeated-measures trials: exercise-induced dehydration plus a diuretic (DD; 40 mg furosemide); exercise-induced dehydration plus placebo containing no diuretic (DN); exercise while maintaining euhydration plus placebo (EU; control condition). Each trial included three 40 min treadmill walks at 5·6 km/h, 5 % grade in a 27·7°C environment. A comprehensive computerised six-task cognitive test battery, the profile of mood states questionnaire and the symptom questionnaire (headache, concentration and task difficulty) were administered during each trial. Paired t tests compared the DD and DN trials resulting in >1 % body mass loss (mean 1·59 (sd 0·42) %) with the volunteer's EU trial (0·01 (sd 0·03) %). Dehydration degraded specific aspects of cognitive performance: errors increased on visual vigilance (P = 0·048) and visual working memory response latency slowed (P = 0·021). Fatigue and tension/anxiety increased due to dehydration at rest (P = 0·040 and 0·029) and fatigue during exercise (P = 0·026). Plasma osmolality increased due to dehydration (P dehydration without hyperthermia in men induced adverse changes in vigilance and working memory, and increased tension/anxiety and fatigue.

  1. BRCA1/2 associated hereditary breast cancer

    Institute of Scientific and Technical Information of China (English)

    Li-song TENG; Yi ZHENG; Hao-hao WANG

    2008-01-01

    Breast cancer is one of the leading causes of death in women today. Some of the patients are hereditary, with a large proportion characterized by mutation in BRCA1 and/or BRCA2 genes. In this review, we provide an overview of these two genes,focusing on their relationship with hereditary breast cancers. BRCA1/2 associated hereditary breast cancers have unique features that differ from the general breast cancers, including alterations in cellular molecules, pathological bases, biological behavior, and a different prevention strategy. But the outcome of BRCA1/2 associated hereditary breast cancers still remains controversial;further studies are needed to elucidate the nature of BRCA1/2 associated hereditary breast cancers.

  2. Leber hereditary optic neuropathy: current perspectives

    Directory of Open Access Journals (Sweden)

    Meyerson C

    2015-06-01

    Full Text Available Cherise Meyerson, Greg Van Stavern, Collin McClelland Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO, USA Abstract: Leber hereditary optic neuropathy (LHON is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction. The primary cell type that is lost in LHON is the retinal ganglion cell, which is highly susceptible to disrupted ATP production and oxidative stress. Inheritance of LHON follows that of mitochondrial genetics, and it has a highly variable clinical phenotype, as other genetic and environmental factors also play a role. Although LHON usually presents with isolated vision loss, some patients suffer other neurological sequelae. For ill-defined reasons, male LHON mutation carriers are more affected than females. Most LHON patients remain legally blind, but a small proportion can experience spontaneous partial recovery, often within the first year of symptom onset. Unfortunately, at this time there are no established curative interventions and treatment is largely supportive. Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol. Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells. Keywords: Leber hereditary optic neuropathy, mitochondria, neuro-ophthalmology, mitochondrial DNA

  3. Epidemiology of non-hereditary angioedema.

    Science.gov (United States)

    Madsen, Flemming; Attermann, Jørn; Linneberg, Allan

    2012-09-01

    The prevalence of non-hereditary angioedema was investigated in a general population sample (n = 7,931) and in a sample of Danish patients (n = 7,433) tested for deficiency of functional complement C(1) esterase inhibitor protein (functional C(1) INH). The general population sample (44% response rate) reported a lifetime prevalence of 7.4% for angioedema. In both groups symptoms were most frequent in the lips, head, neck, eyes and tongue. In the C(1) INH test normal group angioedema was still active at the time of the study in 53% of the patients, and 36% reported symptoms in the throat, 23% in the abdominal area, 17% had diarrhoea, 11% had vomiting and 6% fainted during attacks. Non-hereditary angioedema has high lifetime prevalence and becomes chronic in approximately 50% of affected patients. Symptoms in the larynx and throat, as well as non-specific symptoms, such as dizziness and abdominal pain, were more frequent than previously reported.

  4. Epidemiology of Non-hereditary Angioedema

    DEFF Research Database (Denmark)

    Madsen, Flemming; Attermann, Jørn; Linneberg, Allan

    2012-01-01

    The prevalence of non-hereditary angioedema was investigated in a general population sample (n¿=¿7,931) and in a sample of Danish patients (n¿=¿7,433) tested for deficiency of functional complement C1 esterase inhibitor protein (functional C1 INH). The general population sample (44% response rate......% in the abdominal area, 17% had diarrhoea, 11% had vomiting and 6% fainted during attacks. Non-hereditary angioedema has high lifetime prevalence and becomes chronic in approximately 50% of affected patients. Symptoms in the larynx and throat, as well as non-specific symptoms, such as dizziness and abdominal pain......) reported a lifetime prevalence of 7.4% for angioedema. In both groups symptoms were most frequent in the lips, head, neck, eyes and tongue. In the C1 INH test normal group angioedema was still active at the time of the study in 53% of the patients, and 36% reported symptoms in the throat, 23...

  5. Molecular genetics of distal hereditary motor neuropathies.

    Science.gov (United States)

    Irobi, Joy; De Jonghe, Peter; Timmerman, Vincent

    2004-10-01

    Inherited peripheral neuropathies comprise a wide variety of diseases primarily affecting the peripheral nervous system. The best-known peripheral neuropathy is Charcot-Marie-Tooth disease (CMT) described in 1886 by J.-M. Charcot, P. Marie and H.H. Tooth. In 1980, A.E. Harding and P.K. Thomas showed that in a large group of individuals with CMT, several only had motor abnormalities on clinical and electrophysiological examination, whereas sensory abnormalities were absent. This exclusively motor variant of CMT was designated as spinal CMT or hereditary distal spinal muscular atrophy, and included in the distal hereditary motor neuropathies (distal HMN). The distal HMN are clinically and genetically heterogeneous and are subdivided according to the mode of inheritance, age at onset and clinical evolution. Since the introduction of positional cloning, 12 chromosomal loci and seven disease-causing genes have been identified for autosomal dominant and recessive distal HMN. Most of the genes involved have housekeeping functions, as in RNA processing, translation synthesis, glycosylation, stress response, apoptosis, but also axonal trafficking and editing. Functional characterization of the mutations will help to unravel the cellular processes that underlie the specificity of motor neuropathies leading to neurogenic muscular atrophy of distal limb muscles. Here we review the recent progress of the molecular genetics of distal HMN and discuss the genes implicated.

  6. Molecular genetics of hereditary sensory neuropathies.

    Science.gov (United States)

    Auer-Grumbach, Michaela; Mauko, Barbara; Auer-Grumbach, Piet; Pieber, Thomas R

    2006-01-01

    Hereditary sensory neuropathies (HSN), also known as hereditary sensory and autonomic neuropathies (HSAN), are a clinically and genetically heterogeneous group of disorders. They are caused by neuronal atrophy and degeneration, predominantly affecting peripheral sensory and autonomic neurons. Both congenital and juvenile to adulthood onset is possible. Currently, the classification of the HSN depends on the mode of inheritance, age at onset, and clinical presentation. Hallmark features are progressive sensory loss, chronic skin ulcers, and other skin abnormalities. Spontaneous fractures and neuropathic arthropathy are frequent complications and often necessitate amputations. Autonomic features vary between different subgroups. Distal muscle weakness and wasting may be present and is sometimes so prominent that it becomes difficult to distinguish HSN from Charcot-Marie-Tooth syndrome. Recent major advances in molecular genetics have led to the identification of seven gene loci and six-disease causing genes for autosomal-dominant and autosomal-recessive HSN. These genes have been shown to play roles in lipid metabolism and the regulation of intracellular vesicular transport, but also a presumptive transcriptional regulator, a nerve growth factor receptor, and a nerve growth factor have been described among the causative genes in HSN. Nevertheless, it remains unclear how mutations in the known genes lead to the phenotype of HSN. In this review, we summarize the recent progress of the molecular genetics of the HSN and the implicated genes.

  7. HEREDITARY FRUCTOSE INTOLERANCE – CASE REPORT

    Directory of Open Access Journals (Sweden)

    Jernej Brecelj

    2002-03-01

    Full Text Available Background. Hereditary fructose intolerance is a rare inborn error of carbohydrate metabolism that presents with hypoglicemia, metabolic acidosis and liver decompensation when the patient is exposed to fructose. Diagnosis was established by fructose tolerance test in the past and nowadays mostly by determination of deficient enzyme fructose-1phosphate aldolase (aldolase B activity in hepatic tissue or by molecular genetic means if the mutation is known. Treatment involves elimination (in infants or reduction of fructose and sucrose from the diet and results in improvement in the patient’s clinical status and liver disease.Results. This article presents a patient with hereditary fructose intolerance who was diagnosed 18 years ago on the Department of Pediatric Gastroenterology, Ljubljana Children’s Hospital. At that time oral fructose tolerance test was used to diagnose the disorder. When she was 17 we performed liver biopsy. The enzyme determination showed the absence of aldolase B activity.Conclusions. Only cooperation of different experts enables recognition of rare metabolic disorders which must be prompt to prevent further damage.

  8. Urinary caffeine after coffee consumption and heat dehydration.

    Science.gov (United States)

    Chambaz, A; Meirim, I; Décombaz, J

    2001-07-01

    This study evaluated the effect of heat-induced dehydration on urinary caffeine excretion after the consumption of a strong coffee solution. Following ingestion of coffee (caffeine 4.9+/-0.1 [SE] mg/kg, 3-4 cups), ten healthy males were intermittently exposed to heat in a sauna until they had lost 2.9 % of lean mass. On a separate occasion, they consumed the same amount of coffee but remained quiet and euhydrated (control). Urine flow was reduced 7-fold in dehydration. At these low excretion rates (caffeine concentration was negatively correlated with flow. Peak urinary caffeine (Cmax) was 7.6 +/- 0.4 (SE) microg/ml in dehydration and 7.1 +/- 0.2 microg/ml in the control (p > 0.05). Compared with the control, dehydration delayed Cmax by 1 hour, maintained higher saliva caffeine concentration (6.1 vs 5.2 microg/ml, p caffeine ratio (p caffeine in urine was reduced (1.2 vs 2.8% of dose, p caffeine due to delayed metabolic clearance was partly opposed by a sizeable elimination in sweat. Therefore, heat dehydration did not lead to higher concentration of caffeine in urine after coffee ingestion.

  9. Using Dehydrated Vegetables in Some Brown Bread Types

    Directory of Open Access Journals (Sweden)

    Simona Man

    2013-11-01

    Full Text Available Normal 0 false false false MicrosoftInternetExplorer4 Expanding the range of bakery products in terms of producing supplemented or dietetic products has been an increasingly important trend in contemporary baking. Bakery products as basic and popular food, could be used in the prevention of nutritive deficiencies of many important nutrients, by supplementing the products with biologically valuable ingredients. Such ingredients are dehydrated vegetables in the form of powder. For establishing the bread quality, a special importance shows it’s chemical composition, because the substances that enter in it’s constitution serve to obtaining the energy necessary to the human body. Beside the chemical composition, the bread quality and alimentary use, respectively, depends a large measure on a series of signs: flavor and taste, external appearance, crumb porosity and texture, breads’ volume. This paper belongs to a more complex study, which aims are obtaining some bread assortments with high nutritional value, and improving their sensorial and rheological features, by adding dehydrated vegetables at different levels 4% potato flakes, 2% dehydrated onion, 0.5% dehydrated garlic and 2% dehydrated leek.

  10. Hot air convective dehydration characteristics of Daucus carota var. Nantes

    Directory of Open Access Journals (Sweden)

    Raees-ul Haq

    2015-12-01

    Full Text Available The present work focuses on experimental and theoretical study of air dehydration kinetics of Daucus carota var. Nantes in laboratory scale drying chamber. Steam blanching as a pretreatment was applied prior to dehydration of shreds and the results indicated a gradual decrease in drying time from 2.9 to 5.5% in temperature range of 50–70°C, for steam blanched samples in comparison to untreated carrots. Four different mathematical drying models (Newton, Page, Modified Page and Henderson and Pabis were evaluated for goodness of fit by comparing their respective R2, χ2, and RMSE parameters. Comparison of the statistical parameters led to conclusion that Page model showed a better quality of fit and presents dehydration characteristics in better way to obtain drying curves than any other model.

  11. Effects of dehydration and fluid ingestion on cognition.

    Science.gov (United States)

    Tomporowski, P D; Beasman, K; Ganio, M S; Cureton, K

    2007-10-01

    The effects of exercise-induced dehydration and fluid ingestion on men's cognitive performance were assessed. Eleven young men attended separate sessions in which each individual cycled in a controlled environment at 60 % of V.O (2max) for periods of 15, 60, or 120 min without fluid replacement or 120 min with fluid replacement. Immediately following the assigned submaximal exercise period, the participant completed a graded exercise test to voluntary exhaustion. An executive processing test and a short-term memory test were performed prior to and immediately following exercise. Choice-response times during the executive processing test decreased following exercise, regardless of the level of dehydration. Choice-response errors increased following exercise, but only on trials requiring set shifting. Short-term memory performance improved following exercise, regardless of the level of dehydration. Changes in cognitive performance following exercise are hypothesized to be related to metabolic arousal following strenuous physical activity.

  12. Functional and technological potential of dehydrated Phaseolus vulgaris L. flours.

    Science.gov (United States)

    Ramírez-Jiménez, A K; Reynoso-Camacho, R; Mendoza-Díaz, S; Loarca-Piña, G

    2014-10-15

    The effect of cooking followed by dehydration was evaluated on the bioactive composition, antioxidant activity and technological properties of two varieties (Negro 8025 and Bayo Madero) of common beans. Quercetin, rutin, and phenolic acids were the most abundant phenolics found. Cooking processes resulted in decreased values of some phenolic compounds and antioxidant capacity. A subsequent dehydration increased TEAC values, resistant starch content and decreased starch digestibility. Oligosaccharides and dietary fibre were preserved in both treatments. Variety had a strong impact on phytochemical profile, being Negro 8025 that exhibited the highest content of most of the compounds assessed. Water absorption index (WAI) and oil absorption capacity (OAC) were determined in order to measure technological suitability. Dehydration produced flours with stable WAI and low oil pick up. The results suggest that the flours of Negro 8025 beans have a good potential to be considered as functional ingredient for healthy food products. Copyright © 2014 Elsevier Ltd. All rights reserved.

  13. The independent influences of heat strain and dehydration upon cognition.

    Science.gov (United States)

    van den Heuvel, Anne M J; Haberley, Benjamin J; Hoyle, David J R; Taylor, Nigel A S; Croft, Rodney J

    2017-05-01

    Many researchers have addressed the potential effects of hyperthermia and dehydration on cognition, often revealing contradictory outcomes. A possible reason for this inconsistency is that experiments may have been inadequately designed for such effects. In this study, the impact of hyperthermia, dehydration and their combination on cognition were evaluated in eight young males, after accounting for a range of experimental limitations. Passive heating and thermal clamping at two mean body temperatures (36.5, 38.5 °C) were performed under three hydration states (euhydrated, 3 and 5% dehydrated) to assess their effects on difficulty-matched working memory and visual perception tasks, and on a difficulty manipulated perceptual task. Data were analysed according to signal detection theory to isolate changes in response sensitivity, bias and speed. Neither moderate hyperthermia (P = 0.141) nor dehydration (P > 0.604) modified response sensitivity, nor did they significantly interact (P > 0.698). Therefore, the ability to distinguish correct from incorrect responses was unaffected. Nevertheless, hyperthermia, but not dehydration (P = 0.301), reduced the response bias (-0.08 versus 2.2 [normothermia]; P = 0.010) and reaction time (mean reduction 49 ms; P liberal and faster responses (P = 0.010). Response bias was reduced for the memory relative to the perceptual task (P = 0.037), and this effect was enhanced during hyperthermia (P = 0.031). These observations imply that, once potentially confounding influences were controlled, moderate hyperthermia, significant dehydration and their combined effects had insufficient impact to impair cognition within the memory and perceptual domains tested. Nonetheless, moderate hyperthermia elicited more liberal and rapid responses.

  14. Brazilian guidelines for the diagnosis and treatment of hereditary angioedema.

    Science.gov (United States)

    Giavina-Bianchi, Pedro; França, Alfeu T; Grumach, Anete S; Motta, Abílio A; Fernandes, Fátima R; Campos, Regis A; Valle, Solange O; Rosário, Nelson A; Sole, Dirceu

    2011-01-01

    Hereditary angioedema is an autosomal dominant disease characterized by edema attacks with multiple organ involvement. It is caused by a quantitative or functional deficiency of the C1 inhibitor, which is a member of the serine protease inhibitor family. Hereditary angioedema is unknown to many health professionals and is therefore an underdiagnosed disease. The causes of death from hereditary angioedema include laryngeal edema with asphyxia. The estimated mortality rate in patients in whom the disease goes undetected and who are therefore incorrectly treated is 25-40%. In addition to edema of the glottis, hereditary angioedema often results in edema of the gastrointestinal tract, which can be incapacitating. Patients with hereditary angioedema may undergo unnecessary surgical interventions because the digestive tract can be the primary or only organ system involved, thus mimicking acute surgical abdomen. It is estimated that patients with hereditary angioedema experience some degree of disability 20-100 days per year. The Experts in Clinical Immunology and Allergy of the "Associação Brasileira de Alergia e Imunopatologia -ASBAI" developed these guidelines for the diagnosis, therapy, and management of hereditary angioedema.

  15. Brazilian guidelines for the diagnosis and treatment of hereditary angioedema

    Directory of Open Access Journals (Sweden)

    Pedro Giavina-Bianchi

    2011-01-01

    Full Text Available Hereditary angioedema is an autosomal dominant disease characterized by edema attacks with multiple organ involvement. It is caused by a quantitative or functional deficiency of the C1 inhibitor, which is a member of the serine protease inhibitor family. Hereditary angioedema is unknown to many health professionals and is therefore an underdiagnosed disease. The causes of death from hereditary angioedema include laryngeal edema with asphyxia. The estimated mortality rate in patients in whom the disease goes undetected and who are therefore incorrectly treated is 25-40%. In addition to edema of the glottis, hereditary angioedema often results in edema of the gastrointestinal tract, which can be incapacitating. Patients with hereditary angioedema may undergo unnecessary surgical interventions because the digestive tract can be the primary or only organ system involved, thus mimicking acute surgical abdomen. It is estimated that patients with hereditary angioedema experience some degree of disability 20-100 days per year. The Experts in Clinical Immunology and Allergy of the "Associação Brasileira de Alergia e Imunopatologia -ASBAI" developed these guidelines for the diagnosis, therapy, and management of hereditary angioedema.

  16. How reaction and permeability develop in dehydrating systems

    Science.gov (United States)

    Leclère, H. J.; Faulkner, D. R.; Wheeler, J.; Bedford, J. D.

    2016-12-01

    The triggering of earthquakes at intermediate-depth along subduction zones is often explained by dehydration reactions, releasing free-water and allowing pore-fluid pressure build-up. During dehydration reactions, pore-fluid pressure is increased when permeability is low enough to prevent fluid escape. Permeability is not constant during dehydration reactions but is rather changed by porosity changes (i.e. solid volume reduction or pore compaction). The evolution of permeability during dehydration reactions will thus dictate the pore-fluid pressure evolution that will affect rock strength and earthquake triggering. However, our understanding on the coupling between permeability, pore-fluid pressure, microstructures, deformation and reaction rate is incomplete. In some cases, the development of reactions is distributed uniformly and permeability increases steadily throughout the reaction progress. In other cases, reactions will not proceed uniformly and nature along with previous experiments indicate that "reaction fronts" develop. On the large scale, reaction rate and fluid pressure evolution depend on the movement of these fronts. Experimental results are presented on permeability and reaction front evolution during gypsum dehydration - an analogue for silicate dehydration. Triaxial experiments were conducted using polycrystalline gypsum cores with very low initial porosity. Pore-fluid pressure is controlled at one end of the sample and monitored at the other in order to measure permeability. Gypsum cores were dehydrated at a constant temperature of 115°C. Two parameter spaces were explored: the pore-fluid pressure (20, 40 or 60 MPa) that influences reaction rate, and effective confining pressure (60 or 110 MPa) that influences pore-compaction. The evolution of permeability, porosity, reaction rate and pore-fluid pressure are measured throughout the reaction. SEM observations of post-mortem samples collected at three key stages during the reaction shows how the

  17. EPR study on gamma-irradiated fruits dehydrated via osmosis

    Energy Technology Data Exchange (ETDEWEB)

    Yordanov, N.D. [Laboratory EPR, Institute of Catalysis, Bulgarian Academy of Sciences, 1113 Sofia (Bulgaria)]. E-mail: ndyepr@bas.bg; Aleksieva, K. [Laboratory EPR, Institute of Catalysis, Bulgarian Academy of Sciences, 1113 Sofia (Bulgaria)

    2007-06-15

    The shape and time stability of the electron paramagnetic resonance (EPR) spectra of non- and {gamma}-irradiated papaya, melon, cherry and fig samples dehydrated via osmosis are reported. It is shown that non-irradiated samples are generally EPR silent whereas {gamma}-irradiated exhibit 'sugar-like' EPR spectra. The recorded EPR spectra are monitored for a period of 7 months after irradiation (stored at low humidity and in the dark). The results suggest longer period of unambiguous identification of the radiation processing of osmose dehydrated fruits. Therefore, the Protocol EN 13708,2001 issued by CEN is fully applicable for the studied fruit samples.

  18. Alcohol dehydration: Mechanism of ether formation using an alumina catalyst

    Energy Technology Data Exchange (ETDEWEB)

    Shi, B.; Davis, B.H. [Univ. of Kentucky, Lexington, KY (United States)

    1995-12-01

    Ether formation during the dehydration of secondary alcohols, namely, 2-butanol, 3-pentanol, and 1-cyclopentylethanol, was investigated. Using the proper reaction conditions, the yield of di-2-butyl ether during the dehydration of 2-butanol on alumina can be as high as 40%. That ether is formed by adding an alcohol to the alkene is ruled out by the results from deuterium tracer studies. Results from experiments using S(+)- 2-butanol suggest that the formation of di-2-butyl ether occurs by a S{sub N}2-type mechanism. 33 refs., 5 figs., 3 tabs.

  19. Monoclonal gammopathy in hereditary spherocytosis: Possible pathogenetic relation

    Energy Technology Data Exchange (ETDEWEB)

    Schafer, A.I. (Univ. of Chicago); Miller, J.B.; Lester, E.P.; Bowers, T.K.; Jacob, H.S.

    1978-01-01

    Two cases of monoclonal gammopathy in patients with hereditary spherocytosis led us to consider the possible pathogenetic relation between these two disorders. Twelve adult patients with hereditary spherocytosis had significant hypergammaglobulinemia in comparison to normal subjects. Retrospective analysis of previous illness in 140 patients with multiple myeloma showed a significant association between IgA myeloma and previous gallbladder disease. We propose that the chronic reticuloendothelial stimulation due to extravascular hemolysis, possibly potentiated by the inflammation associated with cholelithiasis and cholecystitis, may foster neoplastic transformation of immunocytes in patients with hereditary spherocytosis, ultimately leading to the development of monoclonal gammopathy.

  20. Diagnosis and Management of Hereditary Renal Cell Cancer.

    Science.gov (United States)

    Menko, Fred H; Maher, Eamonn R

    2016-01-01

    Renal cell cancer (RCC) is the common denominator for a heterogeneous group of diseases. The subclassification of these tumours is based on histological type and molecular pathogenesis. Insight into molecular pathogenesis has led to the development of targeted systemic therapies. Genetic susceptibility is the principal cause of RCC in about 2-4% of cases. Hereditary RCC is the umbrella term for about a dozen different conditions, the most frequent of which is von Hippel-Lindau disease . Here, we describe the main hereditary RCC syndromes, consider criteria for referral of RCC patients for clinical genetic assessment and discuss management options for patients with hereditary RCC and their at-risk relatives.

  1. Hereditary optic neuropathies share a common mitochondrial coupling defect.

    Science.gov (United States)

    Chevrollier, Arnaud; Guillet, Virginie; Loiseau, Dominique; Gueguen, Naïg; de Crescenzo, Marie-Anne Pou; Verny, Christophe; Ferre, Marc; Dollfus, Hélène; Odent, Sylvie; Milea, Dan; Goizet, Cyril; Amati-Bonneau, Patrizia; Procaccio, Vincent; Bonneau, Dominique; Reynier, Pascal

    2008-06-01

    Hereditary optic neuropathies are heterogeneous diseases characterized by the degeneration of retinal ganglion cells leading to optic nerve atrophy and impairment of central vision. We found a common coupling defect of oxidative phosphorylation in fibroblasts of patients affected by autosomal dominant optic atrophy (mutations of OPA1), autosomal dominant optic atrophy associated with cataract (mutations of OPA3), and Leber's hereditary optic neuropathy, a disorder associated with point mutations of mitochondrial DNA complex I genes. Interestingly, the energetic defect was significantly more pronounced in Leber's hereditary optic neuropathy and autosomal dominant optic atrophy patients with a more complex phenotype, the so-called plus phenotype.

  2. Prevalence of pulmonary hypertension in hereditary spherocytosis.

    Science.gov (United States)

    Crary, Shelley E; Ramaciotti, Claudio; Buchanan, George R

    2011-12-01

    Vascular complications, including pulmonary hypertension (PH), have been reported to occur following splenectomy for various disorders,including hereditary spherocytosis (HS). We performed a prospective cross-sectional study of 36 adults with HS (78% with prior splenectomy)utilizing echocardiography to estimate tricuspid regurgitant jet velocity (TRV) as well as measurement of N-terminal pro-B-type natriuretic peptide (NT-proBNP) to screen for PH. No participant with HS hada significantly elevated TRV or NT-proBNP level, despite a median 25-year interval since splenectomy (95% confidence interval for point prevalence 0, 0.097). Although our study was limited by a small sample size, it appears that persons with HS, following splenectomy, appear unlikely to be at significantly increased risk of developing PH to the degree reported for thalassemia and sickle cell disease

  3. Hereditary gingival fibromatosis with distinctive facies.

    Science.gov (United States)

    Prasad, Sunkara Shree Ramalinga; Radharani, Chitturi; Sinha, Soumya; Kumar, Sv Kiran

    2012-11-01

    Hereditary gingival enlargement also known as gingivitis or familial elephantiasis is a rare type of gingival enlargement. It appears as an isolated autosomal dominant disorder or maybe associated with other conditions. Oral manifestations may vary from minimal involvement of only tuberosity area and the buccal gingiva around the lower molars to a generalized enlargement inhibiting eruption of the teeth. This paper discusses the case of a 13-year-old female patient with distinctive facial characteristics who presented to the department with a chief complaint of swollen gums since 1 year. She had severe diffuse gingival enlargement of the maxilla and mandible. Diagnosis was made based upon clinical examination and family history. Quadrant wise internal bevel gingivectomy procedure was done for the patient to restore her functional and esthetic needs.

  4. Hereditary palmoplantar keratodermas in South India.

    Science.gov (United States)

    Gulati, S; Thappa, D M; Garg, B R

    1997-12-01

    Thirty-one patients with inherited palmoplantar keratodermas (PPKs) were screened from 59,490 cases who visiting the OPD of JIPMER, Pondicherry. The prevalence rate was 5.2 per 10,000 population (1:2000 approx.). PPKs were more common in males (25 patients) than females (6 patients); the overall male to female ratio was 4.2:1. The incidence was highest in the group from 0-10 years of life (67.7% of cases). Unna-Thost syndrome topped the list with 38.7% of cases and its prevalence 1:6000 (approx.), followed by Greither's disease (22.9%) and others-Vohwinkel (3 cases), idiopathic punctate (2 cases), ichthyosis vulgaris associated PPK (2 cases) etc. This study has for the first time reported the prevalence and patterns of hereditary PPKs in South India.

  5. [Progress with management of hereditary angioedema].

    Science.gov (United States)

    Johnston, D T; Lode, H

    2013-03-21

    Hereditary angioedema (HAE) is a rare type of angioedema caused by a quantitative or functional deficit of C1 inhibitor (C1 INH) that leads to excess production of bradykinin, which can result in acute localized swelling attacks in the skin or mucous membranes of the mouth, head and neck, extremities, gastrointestinal (GI) tract, genitals, trunk, and larynx. Angioedema in the respiratorytract maycause airway obstruction; severe abdominal pain, vomiting, or diarrhea may occur in the GI tract. Patients with HAE may be diagnosed and managed by HAE specialists or by primary care physicians depending on individual circumstances. Proper treatment requires differentiation from other forms of angioedema. Patients with HAE who are managed appropriately with medications that treat and prevent atttacks may have a lower risk of death from laryngeal edema and a better quality of life. Less frequent attacks may allow them to attend work, school, and leisure activities more regularlyand be free of the pain and disfigurement of HAE attacks moreoften.

  6. Dementia in hereditary cystatin C amyloidosis

    DEFF Research Database (Denmark)

    Blöndal, H; Guomundsson, G; Benedikz, Eirikur

    1989-01-01

    Nineteen cases with verified Hereditary Cystatin C Amyloid Angiopathy are presented. All of the cases had one or more cerebrovascular insults starting at the age of 20-41 years and survived from 10 days to 23 years after the first insult. Progressive dementia was a prominent clinical feature...... in seventeen cases of whom two presented with dementia. At the last examination the majority had severe dementia and severely abnormal EEG. Anti-cystatin C positive amyloid vascular and perivascular infiltrates were found. The resulting damage to the microvasculature of the brain and secondary hemorrhages...... and infarctions were considered to be an adequate explanation for the dementia in these cases. Skin biopsies can now probably be used to demonstrate cystatin C positive amyloid deposits conclusively in the tissues of these patients....

  7. Occurrence of hereditary bullous epidermolyses in Croatia.

    Science.gov (United States)

    Pavicić, Z; Kmet-Vizintin, P; Kansky, A; Dobrić, I

    1990-06-01

    To determine the occurrence of hereditary bullous epidermolyses (EB) in Croatia, Yugoslavia, from 1960 to 1987, cases were gathered from the hospital files of dermatologic and pediatric clinics and departments throughout the area. The diagnosis of EB type was made on the basis of clinical features, patients' histories, and light microscopy and electron microscopy findings. Fifty families with 58 patients were registered; 44 patients were examined personally by one of the authors. The most frequent type of EB in Croatia was recessive dystrophic EB Hallopeau-Siemens, occurring in 35 of the 58 individuals. Regional accumulation of cases within the Varazdin area was noted (13 patients). Prevalence of EB in Croatia is 0.956 cases per 100,000 inhabitants. One case of recessive dystrophic EB Hallopeau-Siemens occurred in about every 52,000 live births.

  8. [Research progress of Leber hereditary optic neuropathy].

    Science.gov (United States)

    Zhang, A-Mei; Yao, Yong-Gang

    2013-02-01

    Leber hereditary optic neuropathy (LHON; MIM 535000) is one of the most common mitochondrial diseases, with a clinical manifestation of painless, acute or sub-acute bilateral visual loss in young adults leading to blindness and central scotoma. Over 95% of LHON patients were caused by one of three primary mtDNA mutations (m.11778G>A, m.3460G>A and m.14484T>C). Incomplete penetrance and gender bias are two riddles of this disease. Here we summarized recent research progress of LHON, with a focus on the molecular pathogenic mechanisms, clinical features, in vitro experiments and animal models, and prevention and treatment of LHON. In particular, we presented the main findings and challenges in our recent efforts to decipher genetic susceptibility and mechanism of LHON in Chinese patients.

  9. Idebenone for Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Gueven, N

    2016-03-01

    Idebenone is a rapidly absorbed, safe and well-tolerated drug and is currently the only clinically proven treatment option for Leber's hereditary optic neuropathy (LHON) patients. Idebenone (Raxone®) is approved by the European Medicines Agency for the treatment of LHON and has been available on the European market since 2015. Due to its molecular mode of action of bypassing the defective mitochondrial complex I, idebenone leads to improved energy supply and a functional recovery of retinal ganglion cells during the acute stage of the disease, thereby preventing further vision loss and promoting recovery of vision. Thus, commencing treatment shortly after the onset of symptoms is likely to have the best therapeutic effect, a hypothesis that is supported by the available clinical data.

  10. Skin deposits in hereditary cystatin C amyloidosis

    DEFF Research Database (Denmark)

    Benedikz, Eirikur; Blöndal, H; Gudmundsson, G

    1990-01-01

    Clinically normal skin from 47 individuals aged 9-70 years was investigated. Cystatin C amyloid deposits were found in various locations of the skin by light and/or electron microscopy, in all 12 patients with a clinical history of hereditary cystatin C amyloidosis (HCCA). Six asymptomatic...... individuals, who had the Alu 1 restriction fragment length polymorphism (RFLP) marker reported to cosegregate with the disease, also had cystatin C amyloid deposits in the skin. Three asymptomatic individuals (age 17-46) belonging to the HCCA families were without amyloid in the skin but had Alu 1 RFLP marker....... Skin from 12 individuals who served as controls and skin from 14 close relatives of the patients was negative for amyloid. Punch biopsy of the skin is a simple procedure which is of value for the diagnosis of HCCA, even before the appearance of clinical symptoms. This method might also be of use...

  11. Pulmonary hypertension in hereditary haemorrhagic telangiectasia

    Institute of Scientific and Technical Information of China (English)

    Veronique; MM; Vorselaars; Sebastiaan; Velthuis; Repke; J; Snijder; Jan; Albert; Vos; Johannes; J; Mager; Martijn; C; Post

    2015-01-01

    Hereditary haemorrhagic telangiectasia(HHT) is an autosomal dominant inherited disorder characterised by vascular malformations in predominantly the brain,liverand lungs.Pulmonary hypertension(PH) is increasingly recognised as a severe complication of HHT.PH may be categorised into two distinct types in patients with HHT.Post-capillary PH most often results from a high pulmonary blood flow that accompanies the high cardiac output state associated with liver arteriovenous malformations.Less frequently,the HHT-related gene mutations in ENG or ACVRL1 appear to predispose patients with HHT to develop pre-capillary pulmonary arterial hypertension.Differentiation between both forms of PH by right heart catheterisation is essential,since both entities are associated with severe morbidity and mortality with different treatment options.Therefore all HHT patients should be referred to an HHT centre.

  12. Dementia in hereditary cystatin C amyloidosis

    DEFF Research Database (Denmark)

    Blöndal, H; Guomundsson, G; Benedikz, Eirikur

    1989-01-01

    Nineteen cases with verified Hereditary Cystatin C Amyloid Angiopathy are presented. All of the cases had one or more cerebrovascular insults starting at the age of 20-41 years and survived from 10 days to 23 years after the first insult. Progressive dementia was a prominent clinical feature...... in seventeen cases of whom two presented with dementia. At the last examination the majority had severe dementia and severely abnormal EEG. Anti-cystatin C positive amyloid vascular and perivascular infiltrates were found. The resulting damage to the microvasculature of the brain and secondary hemorrhages...... and infarctions were considered to be an adequate explanation for the dementia in these cases. Skin biopsies can now probably be used to demonstrate cystatin C positive amyloid deposits conclusively in the tissues of these patients....

  13. [Hereditary spastic paraplegia: up to date].

    Science.gov (United States)

    Takiyama, Yoshihisa

    2014-01-01

    Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are clinically characterized by progressive spasticity and weakness of the lower limbs. HSP genetic loci are designated SPG1-72 in order of their discovery. In 206 Japanese families with autosomal dominant HSP, SPG4 was the most common form, accounting for 38%, followed by SPG3A (5%), SPG31 (5%), SPG10 (2%), and SPG8 (1%). We have identified novel mutations in the C12orf65 gene and the LYST gene in several Japanese families with autosomal recessive HSP. JASPAC will facilitate gene discovery and mechanistic understanding of HSP. The future challenge will be the establishment of treatment of HSP.

  14. Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.

    Science.gov (United States)

    Lupo, Vincenzo; Aguado, Carmen; Knecht, Erwin; Espinós, Carmen

    2016-01-01

    Distal hereditary motor neuropathies (dHMN) are a group of rare hereditary neuromuscular disorders characterized by an atrophy that affects peroneal muscles in the absence of sensory symptoms. To date, 23 genes are thought to be responsible for dHMN, four of which encode chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family; and HSPB1, HSPB3, and HSPB8, encoding three members of the small heat shock protein family. While around 30 different mutations in HSPB1 have been identified, the remaining three genes are altered in many fewer cases. Indeed, a mutation of HSPB3 has only been described in one case, whereas a few cases have been reported carrying mutations in DNAJB2 and HSPB8, most of them caused by a founder c.352+1G>A mutation in DNAJB2 and by mutations affecting the K141 residue in the HSPB8 chaperone. Hence, their rare occurrence makes it difficult to understand the pathological mechanisms driven by such mutations in this neuropathy. Chaperones can assemble into multi-chaperone complexes that form an integrated chaperone network within the cell. Such complexes fulfill relevant roles in a variety of processes, such as the correct folding of newly synthesized proteins, in which chaperones escort them to precise cellular locations, and as a response to protein misfolding, which includes the degradation of proteins that fail to refold properly. Despite this range of functions, mutations in some of these chaperones lead to diseases with a similar clinical profile, suggesting common pathways. This review provides an overview of the genetics of those dHMNs that share a common disease mechanism and that are caused by mutations in four genes encoding chaperones: DNAJB2, HSPB1, HSPB3, and HSPB8.

  15. The Pathology of Hereditary Breast Cancer

    Directory of Open Access Journals (Sweden)

    Honrado Emiliano

    2004-07-01

    Full Text Available Abstract Several studies have demonstrated that familial breast cancers associated with BRCA1 or BRCA2 germline mutations differ in their morphological and immunohistochemical characteristics. Cancers associated with BRCA1 are poorly differentiated infiltrating ductal carcinomas (IDCs with higher mitotic counts and pleomorphism and less tubule formation than sporadic tumours. In addition, more cases with the morphological features of typical or atypical medullary carcinoma are seen in these patients. Breast carcinomas from BRCA2 mutation carriers tend to be of higher grade than sporadic age-matched controls. Regarding immunophenotypic features. BRCA1 tumours have been found to be more frequently oestrogen receptor- (ER and progesterone receptor-(PR negative, and p53-positive than age-matched controls, whereas these differences are not usually found in BRCA2-associated tumours. A higher frequency and unusual location of p53 mutations have been described in BRCA1/2 carcinomas. Furthermore, BRCA1- and BRCA2-associated breast carcinomas show a low frequency of HER-2 expression. Recent studies have shown that most BRCA1 carcinomas belong to the basal cell phenotype, a subtype of high grade, highly proliferating ER/HER2-negative breast carcinoma characterized by the expression of basal or myoepithelial markers, such as basal keratins, P-cadherin, EGFR, etc. This phenotype occurs with a higher incidence in BRCA1 tumours than in sporadic carcinomas and is rarely found in BRCA2 carcinomas. Hereditary carcinomas not attributable to BRCA1/2 mutations have phenotypic similarities with BRCA2 tumours, but tend to be of lesser grade and lower proliferation index. The pathological features of hereditary breast cancer can drive specific treatment and influence the process of mutation screening.

  16. Chaperonopathies: spotlight on hereditary motor neuropathies

    Directory of Open Access Journals (Sweden)

    Vincenzo Lupo

    2016-12-01

    Full Text Available Distal hereditary motor neuropathies (dHMN comprise a group of rare hereditary neuromuscular disorders characterized by a peroneal muscular atrophy without sensory symptoms. To date twenty-three genes for dHMN have been reported and four of them encode for chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family, and HSPB1, HSPB3 and HSPB8, which encode three members of the family of small heat shock proteins. Except for HSPB1, with around thirty different mutations, the remaining three genes comprise a much low number of cases. Thus, only one case has been described caused by an HSPB3 mutation, whereas few DNAJB2 and HSPB8 cases are known, most of them caused by a founder c.352+1G>A mutation in DNAJB2 and by mutations affecting the hot spot K141 residue of the HSPB8 chaperone. This low number of cases makes it difficult to understand the pathomechanism underlying the neuropathy. Chaperones can assemble in multi-chaperone complexes forming an integrative chaperone network in the cell, which plays relevant cellular roles in a variety of processes such as the correct folding of newly synthesized proteins, their escort to their precise cellular locations to form functional proteins and complexes and the response to protein misfolding, including the degradation of proteins that fail to refold properly. Despite of this variety of functions, mutations in some of them lead to diseases with a similar clinical picture, suggesting common pathways. This review gives an overview of the genetics of dHMNs caused by mutations in four genes, DNAJB2, HSPB1, HSPB3 and HSPB8, which encode chaperones and show a common disease mechanism.

  17. Chaperonopathies: Spotlight on Hereditary Motor Neuropathies

    Science.gov (United States)

    Lupo, Vincenzo; Aguado, Carmen; Knecht, Erwin; Espinós, Carmen

    2016-01-01

    Distal hereditary motor neuropathies (dHMN) are a group of rare hereditary neuromuscular disorders characterized by an atrophy that affects peroneal muscles in the absence of sensory symptoms. To date, 23 genes are thought to be responsible for dHMN, four of which encode chaperones: DNAJB2, which encodes a member of the HSP40/DNAJ co-chaperone family; and HSPB1, HSPB3, and HSPB8, encoding three members of the small heat shock protein family. While around 30 different mutations in HSPB1 have been identified, the remaining three genes are altered in many fewer cases. Indeed, a mutation of HSPB3 has only been described in one case, whereas a few cases have been reported carrying mutations in DNAJB2 and HSPB8, most of them caused by a founder c.352+1G>A mutation in DNAJB2 and by mutations affecting the K141 residue in the HSPB8 chaperone. Hence, their rare occurrence makes it difficult to understand the pathological mechanisms driven by such mutations in this neuropathy. Chaperones can assemble into multi-chaperone complexes that form an integrated chaperone network within the cell. Such complexes fulfill relevant roles in a variety of processes, such as the correct folding of newly synthesized proteins, in which chaperones escort them to precise cellular locations, and as a response to protein misfolding, which includes the degradation of proteins that fail to refold properly. Despite this range of functions, mutations in some of these chaperones lead to diseases with a similar clinical profile, suggesting common pathways. This review provides an overview of the genetics of those dHMNs that share a common disease mechanism and that are caused by mutations in four genes encoding chaperones: DNAJB2, HSPB1, HSPB3, and HSPB8. PMID:28018906

  18. Accumulation of acid sites on natural clinoptilolite under recurring dehydration

    Science.gov (United States)

    Moroz, N. K.; Afanassyev, I. S.; Paukshtis, E. A.; Valueva, G. P.

    A new 1H NMR approach was applied to study the influence of recurring dehydration on the acidity of a natural Ca-rich zeolite clinoptilolite. It has been found that thermal cycling progressively increases the rate of the proton exchange between water molecules in the rehydrated state. The observed effect is interpreted as a result of the irreversible accumulation of specific structural defects represented by Brønsted acid sites: each dehydration at 720 K adds to the acid sites in an amount of the order of 10-3 per unit cell. The number of these defects, detected by NMR in hydrated mineral, is in reasonable agreement with their amount estimated for the dehydrated state with an IR-spectroscopy CO-probe method. A comparison of the results obtained for two distinct zeolite samples shows that the Ca2+ ions are of first importance in the dehydration-induced formation of the active acid sites. The barrier for the proton-transfer reaction between the acid sites and H2O molecules in hydrated clinoptilolite is found to be 46 kJ mol-1, which is not too different from the value of 54 kJ mol-1 reported recently for natural chabazite.

  19. Sorbitol dehydration into isosorbide in a molten salt hydrate medium

    NARCIS (Netherlands)

    Li, J.; Spina, A.; Moulijn, J.A.; Makkee, M.

    2013-01-01

    The sorbitol conversion in a molten salt hydrate medium (ZnCl2; 70 wt% in water) was studied. Dehydration is the main reaction, initially 1,4- and 3,6-anhydrosorbitol are the main products that are subsequently converted into isosorbide; two other anhydrohexitols, (1,5- and 2,5-), formed are in less

  20. Kinetics of xylose dehydration into furfural in acetic acid

    Institute of Scientific and Technical Information of China (English)

    Zhou Chen; Weijiang Zhang; Jiao Xu; Pingli Li

    2015-01-01

    In this paper kinetics of xylose dehydration into furfural using acetic acid as catalyst was studied comprehensively and systematical y. The reaction order of both furfural and xylose dehydration was determined and the reaction activation energy was obtalned by nonlinear regression. The effect of acetic acid concentration was also investi-gated. Reaction rate constants were galned. Reaction rate constant of xylose dehydration is k1 ¼ 4:189 . 1010 ½A.0:1676 exp −108:6.1000RT . ., reaction rate constant of furfural degradation is k2 ¼ 1:271 . 104½A.0:1375 exp−63:413.1000RT . and reaction rate constant of condensation reaction is k3 ¼ 3:4051 . 1010½A.0:1676 exp−104:99.1000RT .. Based on this, the kinetics equation of xylose dehydration into furfural in acetic acid was set up according to theory of Dunlop and Furfural generating rate equation is dd½F.t ¼ k1½X.0e−k1t−k2½F.−k3½X.0e−k1t½F.. © 2015 The Chemical Industry and Engineering Society of China, and Chemical Industry Press. Al rights reserved.

  1. Reference chart for relative weight change to detect hypernatraemic dehydration

    NARCIS (Netherlands)

    Dommelen, P. van; Wouwe, J.P. van; Breuning-Boers, J.M.; Buuren, S. van; Verkerk, P.H.

    2007-01-01

    Objective: The validity of the rule of thumb that infants may have a weight loss of 10% in the first days after birth is unknown. We assessed the validity of this and other rules to detect breast-fed infants with hypernatraemic dehydration. Design: A reference chart for relative weight change was co

  2. Microfluidic Droplet Dehydration for Concentrating Processes in Biomolecules

    Science.gov (United States)

    Anna, Shelley

    2014-03-01

    Droplets in microfluidic devices have proven useful as picoliter reactors for biochemical processing operations such as polymerase chain reaction, protein crystallization, and the study of enzyme kinetics. Although droplets are typically considered to be self-contained, constant volume reactors, there can be significant transport between the dispersed and continuous phases depending on solubility and other factors. In the present talk, we show that water droplets trapped within a microfluidic device for tens of hours slowly dehydrate, concentrating the contents encapsulated within. We use this slow dehydration along with control of the initial droplet composition to influence gellation, crystallization, and phase separation processes. By examining these concentrating processes in many trapped drops at once we gain insight into the stochastic nature of the events. In one example, we show that dehydration rate impacts the probability of forming a specific crystal habit in a crystallizing amino acid. In another example, we phase separate a common aqueous two-phase system within droplets and use the ensuing two phases to separate DNA from an initial mixture. We further influence wetting conditions between the two aqueous polymer phases and the continuous oil, promoting complete de-wetting and physical separation of the polymer phases. Thus, controlled dehydration of droplets allows for concentration, separation, and purification of important biomolecules on a chip.

  3. Cranial ultrasound and CT findings in infants with hypernatremic dehydration

    Energy Technology Data Exchange (ETDEWEB)

    Han, Bokyung K. [Department of Pediatric Radiology, Samsung Medical Centre, 50 Irwon-Dong, Kangnam-Ku, Seoul 135-230 (Korea, Republic of); Lee, Munhyang [Department of Pediatric Radiology, Samsung Medical Centre, 50 Irwon-Dong, Kangnam-Ku, Seoul 135-230 (Korea, Republic of); Yoon, Hye Kyung [Department of Pediatric Radiology, Samsung Medical Centre, 50 Irwon-Dong, Kangnam-Ku, Seoul 135-230 (Korea, Republic of)

    1997-09-01

    We present two newborn infants with hypernatremic dehydration with central nervous system (CNS) involvement. Both patients showed similar imaging findings, demonstrating generalized brain parenchymal abnormality and multifocal areas of hemorrhage or hemorrhagic infarction. These findings are compatible with previously described CNS pathologic findings in hypernatremia. (orig.). With 2 figs.

  4. Carbon-based building blocks for alcohol dehydration

    DEFF Research Database (Denmark)

    Boffa, Vittorio; Mallon, Peter E.; Magnacca, Giuliana

    A biopolymer (HAL), extracted from organic compost with yield ~20%, was used to fabricate composite HAL-graphene oxide (GO) membranes. Upon thermal stabilization, HAL brings high disorder in the membrane structure, thus increasing water permeability. This feature together with the good water/etha....../ethanol perm-selectivity make GO-HAL membranes promising devices for alcohol dehydration....

  5. Studying of Lactulose Hygroscopicity and Microstructure after Spray Dehydration

    Directory of Open Access Journals (Sweden)

    Andrei Lisitsyn

    2016-05-01

    Full Text Available Investigations in the present work were directed towards the study of the dehydration temperature influence on the mass fraction of moisture in lactulose. The moisture mass fraction index is the most important to estimate the quality of primary, semi-finished and finished products. Resulting from this, investigations have been directed onto the study of the dehydration temperature influence on the mass fraction of moisture in the solution. A technology of getting dry lactulose by way of spray dehydration has been developed. It has been proved that while the temperature of dehydrating a lactulose solution with the mass fraction of 50% rises, the moisture content in the product decreases. The lactulose powder quality was estimated by such factors as mass fraction of moisture, particle size, solubility index and hydroscopicity, as these factors produce the most influence upon consumer properties of the products. The data received show growth of the lactulose solubility index with the particle size increase. This is evidently connected with the fact that a big size of the particles makes interaction between molecules of water and lactulose more difficult as well as forming donor and acceptor (hydrogen bonds, and consequently the solution process.

  6. Science Study Aids 1: Dehydration for Food Preservation.

    Science.gov (United States)

    Boeschen, John; And Others

    This publication is the first of a series of seven supplementary investigative materials for use in secondary science classes providing up-to-date research-related investigations. This unit is structured for grades 9 through 12. It is concerned with the osmatic dehydration of fruits. The guide provides students with information about food…

  7. NONCHEMICAL DEHYDRATION OF FIXED TISSUE COMBINING MICROWAVES AND VACUUM

    NARCIS (Netherlands)

    KOK, LP; BOON, ME

    A novel histoprocessing method for paraffin and plastic sections is presented in which dehydration of fixed tissue blocks is achieved within 5 minutes by microwaving under vacuum. Exploiting the decrease in boiling temperature under vacuum, we succeed in evaporating liquid molecules in the tissues

  8. Presence and significance of Bacillus cereus in dehydrated potato products.

    Science.gov (United States)

    King, Nicola J; Whyte, Rosemary; Hudson, J Andrew

    2007-02-01

    Dehydrated potato contains Bacillus cereus at a prevalences of 10 to 40% and at numbers usually less than 10(3) CFU g(-1). B. cereus in dehydrated potato is likely to be present as spores that are able to survive drying of the raw vegetable and may represent a significant inoculum in the reconstituted (rehydrated) product where conditions favor germination of, and outgrowth from, spores. Holding rehydrated mashed potato alone, or as part of another product (e.g., potato-topped pie), at temperatures above 10 degrees C and below 60 degrees C may allow growth of vegetative B. cereus. Levels exceeding 10(4) CFU g(-1) are considered hazardous to human health and may be reached within a few hours if stored inappropriately between these temperatures. Foods incorporating mashed potato prepared from dehydrated potato flakes have been implicated in B. cereus foodborne illness. This review is a summary of the information available concerning the prevalence and numbers of B. cereus in dehydrated potato flakes and the rate at which growth might occur in the rehydrated product.

  9. Mass Transfer During Osmotic Dehydration Using Acoustic Cavitation

    Institute of Scientific and Technical Information of China (English)

    孙宝芝; 淮秀兰; 姜任秋; 刘登瀛

    2005-01-01

    An experimental study on intensifying osmotic dehydration was carried out in a state of nature and with acoustic cavitation of different cavitating intensity (0.5A, 0.TA and 0.9A) respectively, in which the material is apple slice of 5 mm thickness. The result showed that acoustic cavitation remarkably enhanced the osmotic dehydration, and the water loss was accelerated with the increase of cavitating intensity. The water diffusivity coefficients ranged from 1.8 × 10-10 m2.s-1 at 0.5A to 2.6 × 10-10 m2.s-1 at 0.9A, and solute diffusivity coefficients ranged from 3.5×10-11 m2.s-1 at 0.5A to 4.6×10-11 m2.s-1 at 0.9A. On the basis of experiments, a mathematical model was established about mass transfer during osmotic dehydration, and the numerical simulation was carried out. The calculated results agree well with experimental data, and represent the rule of mass transfer during osmotic dehydration intensified by acoustic cavitation.

  10. KNaY-zeolite catalyzed dehydration of methyl lactate

    Institute of Scientific and Technical Information of China (English)

    Hai Feng Shi; Yao Chi Hu; Yang Wang; He Huang

    2007-01-01

    A promising catalyst, KNaY was prepared by an ion exchange method with aqueous potassium chloride solution. Compared with NaY, KNaY was an effective catalyst for the dehydration of methyl lactate to methyl acrylate. Under the optimized conditions,an improved yield of 37.9 mol% was achieved.

  11. Dehydration kinetics of Portland cement paste at high temperature

    NARCIS (Netherlands)

    Zhang, Q.; Ye, G.

    2012-01-01

    Portland cement paste is a multiphase compound mainly consisting of calcium-silicate-hydrate (CSH) gel, calcium hydroxide (CH) crystal, and unhydrated cement core. When cement paste is exposed to high temperature, the dehydration of cement paste leads to not only the decline in strength, but also

  12. Dehydration kinetics of Portland cement paste at high temperature

    NARCIS (Netherlands)

    Zhang, Q.; Ye, G.

    2012-01-01

    Portland cement paste is a multiphase compound mainly consisting of calcium-silicate-hydrate (CSH) gel, calcium hydroxide (CH) crystal, and unhydrated cement core. When cement paste is exposed to high temperature, the dehydration of cement paste leads to not only the decline in strength, but also th

  13. Persistence of Salmonella enterica during dehydration and subsequent cold storage.

    Science.gov (United States)

    Gruzdev, Nadia; Pinto, Riky; Sela Saldinger, Shlomo

    2012-12-01

    Despite the fact that Salmonella enterica serotype Typhimurium SL 1344 has served as a model pathogen in many studies, information regarding its desiccation response is still scarce. In this study, we investigated environmental conditions that affect Salmonella survival following dehydration and subsequent cold storage, using a 96-well polystyrene plate model. The SL 1344 strain exhibited high survival compared with other Typhimurium isolates and S. enterica serotypes. Further characterization of desiccation tolerance in this strain revealed that temperature, stationary-phase of growth, solid medium, and the presence of increasing NaCl concentrations (0.5-5.0%) in the growth medium enhanced desiccation tolerance. Dehydration at basic pHs (8-10), or in trehalose, sucrose, but not in glycine-betaine, improved bacterial persistence. Dehydrated Salmonella survived over 100 weeks at 4 °C with a ∼5-log reduction in numbers. However, viability staining revealed only a ∼50% reduction in viable cells, suggesting bacterial transition into a viable-but-not-cultivable state (VBNC). Addition of chloramphenicol reduced bacterial survival implying that adaptation to desiccation stress requires de-novo protein synthesis. Consistent with this finding, shortening the dehydration time resulted in lower survival. This study emphasizes the impact of environmental conditions on the fate of dried Salmonella in the food chain and highlights the potential transition of the pathogen to the VBNC state. Copyright © 2012 Elsevier Ltd. All rights reserved.

  14. Creatine Use and Exercise Heat Tolerance in Dehydrated Men

    OpenAIRE

    Watson, Greig; Casa, Douglas J.; Fiala, Kelly A; Hile, Amy; Roti, Melissa W; Healey, Julie C; Armstrong, Lawrence E; Maresh, Carl M.

    2006-01-01

    Context: Creatine monohydrate (CrM) use is highly prevalent in team sports (eg, football, lacrosse, ice hockey) and by athletes at the high school, college, professional, and recreational levels. Concerns have been raised about whether creatine use is associated with increased cramping, muscle injury, heat intolerance, and risk of dehydration.

  15. Dehydrated melon containing antioxidants and calcium from grape juice

    Directory of Open Access Journals (Sweden)

    Hulda N. M. Chambi

    2016-11-01

    Full Text Available Background: Grape juice has a high antioxidant potential, capable of fighting oxidative processes in the body. The juice is mainly marketed in its concentrated form, which has a high content of glucose and fructose. The juice concentrate may then be used as an osmotic agent to dehydrated fruit with a relatively short shelf-life at room temperature, such as melon. The osmotic dehydration process can also be combined with conventional drying in order to further reduce the water activity (a w of the product. Finally, the antioxidant-rich melon meets the consumers’ demand for foods which contain ingredients that may impart health benefits. Results: Melon dehydrated by osmotic process at 200, 400 and 600 mbar, using grape juice concentrate (GJC, showed no significant differences in physical characteristics (a w , °Brix, and moisture content. Higher efficiency was observed when dehydration was performed at 200 mbar. After osmotic dehydration with GJC, both plasmolysis of the melon cells and an increase in intercellular spaces were observed by optical microscopy, with no negative impact on the mechanical properties (True stress, Hencky’s strain and deformability modulus. Calcium present in GJC was impregnated into the melon matrix, thus contributing with the mineral composition and mechanical properties of the final product. No significant differences were observed for the antioxidant capacity of melon dehydrated both with GJC and GJC followed by air-drying at 50 and 70°C. This demonstrates that it is possible to combine the two processes to obtain a product with intermediate moisture without decreasing its antioxidant capacity. The samples scored above the acceptable limit (>5 varying between like slightly to like moderately, resulting in a purchase intent with average scores between 3 (maybe/maybe not buy and 4 (probably would buy. Conclusions: A product with intermediate water activity, acidic, firm, high antioxidant capacity, rich in calcium

  16. Hereditary Lymphedema of the Leg – A Case Report

    Directory of Open Access Journals (Sweden)

    Birgit Heinig

    2017-07-01

    Full Text Available Primary of hereditary lymphedema is a rare but progressive disease. It is yet not curable. We present a 48-year-old male patient with hereditary lymphedema of his left leg, that was realised by minor trauma (able twist when he was seven years old. He had never been treated for lymphedema but experienced multiple erysipelas during his life. After diagnostic procedures to exclude other causes of leg swelling, the diagnosis of hereditary lymphedema of the leg, stage III was confirmed. We initialized complex decongestive therapy. During two weeks of intensive treatment, the circumference of the left leg could be reduced by 10 cm. This case illustrates the "natural course" hereditary lymphedema. But it raises the hope that even after decades of ignorance, the patients benefits from complex decongestive treatment. Therapeutic nihilism is unnecessary and poses lymphedema patients to risks of infection and secondary malignancies like Stewart-Trewes syndrome.

  17. Deranged Wnt signaling is frequent in hereditary nonpolyposis colorectal cancer

    DEFF Research Database (Denmark)

    Isinger-Ekstrand, Anna; Therkildsen, Christina; Bernstein, Inge

    2011-01-01

    The Wnt signaling pathway is frequently deranged in colorectal cancer and is a key target for future preventive and therapeutic approaches. Colorectal cancers associated with the hereditary nonpolyposis colorectal cancer (HNPCC) syndrome are characterized by wide-spread microsatellite instability...

  18. Spatiotemporal evolution of dehydration reactions in subduction zones (Invited)

    Science.gov (United States)

    Padron-Navarta, J.

    2013-12-01

    Large-scale deep water cycling takes place through subduction zones in the Earth, making our planet unique in the solar system. This idiosyncrasy is the result of a precise but unknown balance between in-gassing and out-gassing fluxes of volatiles. Water is incorporated into hydrous minerals during seafloor alteration of the oceanic lithosphere. The cycling of volatiles is triggered by dehydration of these minerals that release fluids from the subducting slab to the mantle wedge and eventually to the crust or to the deep mantle. Whereas the loci of such reactions are reasonably well established, the mechanisms of fluid migration during dehydration reactions are still barely known. One of the challenges is that dehydration reactions are dynamic features evolving in time and space. Experimental data on low-temperature dehydration reactions (i.e. gypsum) and numerical models applied to middle-crust conditions point to a complex spatiotemporal evolution of the dehydration process. The extrapolation of these inferences to subduction settings has not yet been explored but it is essential to understand the dynamism of these settings. Here I propose an alternative approach to tackle this problem through the textural study of high-pressure terrains that experienced dehydration reactions. Spatiotemporal evolution of dehydration reactions should be recorded during mineral nucleation and growth through variations in time and space of the reaction rate. Insights on the fluid migration mechanism could be inferred therefore by noting changes in the texture of prograde assemblages. The dehydration of antigorite in serpentinite is a perfect candidate to test this approach as it releases a significant amount of fluid and produces a concomitant porosity. Unusual alternation of equilibrium and disequilibrium textures observed in Cerro del Almirez (Betic Cordillera, S Spain)[1, 2] attest for a complex fluid migration pattern for one of the most relevant reactions in subduction zones

  19. [Hereditary spherocytosis: Review. Part I. History, demographics, pathogenesis, and diagnosis].

    Science.gov (United States)

    Donato, Hugo; Crisp, Renée Leonor; Rapetti, María Cristina; García, Eliana; Attie, Myriam

    2015-01-01

    Hereditary spherocytosis is the most frequent hereditary anemia excluding beta thalassemia in Argentina. Historical, demographic, genetic and pathogenic aspects of the disease are reviewed, and confirmatory laboratory tests are described. Special characteristics on the outcome of the disease in our population and prevalent protein deficiencies in our country are described. Emphasis is given on new available laboratory tests, which allow an earlier diagnosis using volume of blood samples significantly smaller than required for conventional tests.

  20. An adolescent with hereditary spherocytosis who presented with splenic infarction.

    Science.gov (United States)

    Jones, Lara; Refai, Zafer; Linney, Mike

    2015-07-02

    A 16-year-old male patient with known hereditary spherocytosis presented with a 4-day history of chest pain and lethargy. On admission, he had a low-grade fever and was grossly anaemic; examination revealed splenomegaly. An ultrasound scan confirmed splenomegaly with areas of splenic infarction. Subsequent tests suggested possible Epstein-Barr virus infection. The patient recovered well and had a functional spleen on discharge. This case report presents an unusual complication of isolated hereditary spherocytosis.

  1. Pyoderma Gangrenosum in a Patient with Hereditary Spherocytosis.

    Science.gov (United States)

    Kwon, Hyoung Il; Paek, Jun Oh; Kim, Jeoung Eun; Ro, Young Suck; Ko, Joo Yeon

    2016-03-01

    Pyoderma gangrenosum (PG) is a rare, relapsing cutaneous disease with 4 distinctive clinical manifestations: ulcerative, bullous, pustular, and vegetative lesions. It mainly occurs in adults and is frequently associated with systemic diseases, most commonly inflammatory bowel disease, rheumatologic disease, or hematological dyscrasias. However, there have been no previous reports of PG in a patient with hereditary spherocytosis, a common inherited hemolytic anemia. We report here a unique case of PG in a 15-year-old boy with underlying hereditary spherocytosis.

  2. Acute edema blisters in a hereditary angioedema cutaneous attack.

    Science.gov (United States)

    Fernández Romero, D; Di Marco, P; Malbrán, A

    2008-01-01

    Hereditary angioedema is a rare autosomal dominant disease characterized by recurrent episodes of acute edema affecting the skin and the respiratory and digestive tracts. Acute edema blisters or hydro-static bullae develop after rapid accumulation of interstitial fluid usually associated to cardiac insufficiency. Lesions contain sterile fluid and break up easily resolving without scars. Blisters disappear when fluid accumulation resolves. We describe a patient developing recurrent acute edema blisters as a consequence of cutaneous hereditary angioedema attacks.

  3. Systemic treatment for hereditary cancers: a 2012 update

    OpenAIRE

    Imyanitov, Evgeny N; Byrski, Tomasz

    2013-01-01

    The history of specific therapy for hereditary tumors dates back to mid 1980s and involves a number of reports demonstrating regression of familial colon polyps upon administration of sulindac. Virtually no clinical studies on other hereditary cancer types were available until the year 2009, when Byrski et al. presented the data on unprecedented sensitivity of BRCA1-associated breast malignancies to cisplatin. This breakthrough has revived interest to the treatment of cancer in germ-line muta...

  4. Hereditary sensory autonomic neuropathy and anaesthesia - a case report

    Directory of Open Access Journals (Sweden)

    Nandini Dave

    2007-01-01

    Full Text Available The hereditary sensory and autonomic neuropathies are a rare group of disorders characterized by progressive loss of function that predominantly affects the peripheral sensory nerves. Autonomic dysfunction is present to a variable degree and can have several implications for anaesthesia. We report the case of a patient with Hereditary sensory and autonomic neuropathy who was posted for a below knee amputation and discuss the anaesthesia management.

  5. Improving energy efficiency in the production processes of dehydration smoked and dried fish.

    Directory of Open Access Journals (Sweden)

    Mihail Ershov

    2013-04-01

    Full Text Available The technology of dehydration fish with cyclical periods of drying and relaxation facility dehydration. This technology is aimed at improving the energy efficiency of the processes of dehydration by drying and cold-smoked fish. Relaxation object dehydration is most effective in a period of falling drying rate. The use of the proposed technology can reduce energy costs in the production of dried and smoked products by 8-12% as compared to conventional technology.

  6. Hereditary opalescent dentin: a report of two cases.

    Science.gov (United States)

    Gupta, Siddharth; Bhowate, Rahul R; Bhati, Ashok

    2010-07-01

    The aim of this case report is to present the clinical and radiographic findings of hereditary opalescent dentin to facilitate an early diagnosis. Hereditary opalescent dentin (or dentinogenesis imperfecta) may manifest itself in three variations: i.e., Shields type I, Shields type II, and Shields type III. Dentinogenesis imperfecta occurs as an autosomal dominant trait with variable expressivity, either in presence with osteogenesis imperfecta or as a separate clinical entity in persons who have none of the features of osteogenesis imperfecta. A seven-year old boy and his mother were both diagnosed with hereditary opalescent dentin. A review of the family dental history revealed that this condition affected not only the child's mother but his maternal grandfather and great grandfather. Both the son and the mother exhibited the same clinical and radiologic features as those reported previously with no evidence of osteogenesis imperfecta. Being an autosomal disease, hereditary opalescent dentin runs in the family and can affect both the deciduous and permanent dentitions as a dominant trait. Once a patient is diagnosed with hereditary opalescent dentin, other family members should be evaluated given the condition is hereditary.

  7. Hereditary neuropathies: systematization and diagnostics (clinical case of hereditary motor and sensor neuropathy of the IA type

    Directory of Open Access Journals (Sweden)

    Kolokolova A.M.

    2016-09-01

    Full Text Available Aim: to study the value of routine methods (clinical symptoms, electrophysiological findings and results of DNA analysis in diagnostics of hereditary motor sensory neuropathy type IA in outpatient clinics. Material and Methods. The review of foreign literature is represented. The phenotypic polymorphism, genetic heterogeneity and the difficulties of diagnostics are identified. A family with hereditary motor sensory neuropathy of lAtype is presented, which was diagnosed on the base of available methods in outpatient practice (clinical symptoms, genealogical method, electro-physiological findings and DNA analysis results. Results. Routine algorithm (consistent valuation of clinical symptoms, neurophysiologic findings and the results of DNA analysis helped to verify the diagnosis of hereditary motor sensory neuropathy of lAtype in outpatient practice after more than 20 years of the onset of the disease. Conclusion. The neurologists of outpatient clinics and other specialists must be informed about the availability of diagnostics of hereditary diseases of nervous system.

  8. 40 CFR 407.50 - Applicability; description of the dehydrated potato products subcategory.

    Science.gov (United States)

    2010-07-01

    ... dehydrated potato products subcategory. 407.50 Section 407.50 Protection of Environment ENVIRONMENTAL... PROCESSING POINT SOURCE CATEGORY Dehydrated Potato Products Subcategory § 407.50 Applicability; description of the dehydrated potato products subcategory. The provisions of this subpart are applicable...

  9. Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis

    Directory of Open Access Journals (Sweden)

    Höblinger A

    2009-04-01

    Full Text Available Abstract Here we report a 33-years-old woman with hereditary spherocytosis and hemochromatosis due to homozygosity for the C282Y mutation of the HFE gene. The coinheritance of both conditions led to severe iron overload and liver cirrhosis at young age. The patient was treated by repeated phlebotomy, and reversibility of cirrhosis was documented by transient elastography. This report discusses the pathophysiology of iron accumulation in patients with hemolytic anemia combined with HFE C282Y homozygosity. The case indicates that patients with hematological disorders characterized by increased erythropoetic activity should be screened for HFE mutations.

  10. 儿童遗传性肾脏疾病%Hereditary kidney diseases in children

    Institute of Scientific and Technical Information of China (English)

    张琰琴; 丁洁; 王芳; 张宏文

    2013-01-01

    About 10 to 15 percent of kidney diseases are inherited or related to genetic factors. While, hereditary kidney diseases have no specific clinical manifestations and react poorly to the therapy, as a result, about 30 percent of hospitalized children with chronic renal failure is due to hereditary kidney diseases in our country. Hereditary kidney diseases are related to many genes. Molecular genetic analysis plays an important role in the diagnosis and prenatal diagnosis of hereditary kidney diseases. Our group have made a series of research in hereditary kidney diseases for nearly 30 years. Here we review the research work and the main results in hereditary kidney diseases of our group.

  11. Growth and development: hereditary and mechanical modulations.

    Science.gov (United States)

    Mao, Jeremy J; Nah, Hyun-Duck

    2004-06-01

    Growth and development is the net result of environmental modulation of genetic inheritance. Mesenchymal cells differentiate into chondrogenic, osteogenic, and fibrogenic cells: the first 2 are chiefly responsible for endochondral ossification, and the last 2 for sutural growth. Cells are influenced by genes and environmental cues to migrate, proliferate, differentiate, and synthesize extracellular matrix in specific directions and magnitudes, ultimately resulting in macroscopic shapes such as the nose and the chin. Mechanical forces, the most studied environmental cues, readily modulate bone and cartilage growth. Recent experimental evidence demonstrates that cyclic forces evoke greater anabolic responses of not only craniofacial sutures, but also cranial base cartilage. Mechanical forces are transmitted as tissue-borne and cell-borne mechanical strain that in turn regulates gene expression, cell proliferation, differentiation, maturation, and matrix synthesis, the totality of which is growth and development. Thus, hereditary and mechanical modulations of growth and development share a common pathway via genes. Combined approaches using genetics, bioengineering, and quantitative biology are expected to bring new insight into growth and development, and might lead to innovative therapies for craniofacial skeletal dysplasia including malocclusion, dentofacial deformities, and craniofacial anomalies such as cleft palate and craniosynostosis, as well as disorders associated with the temporomandibular joint.

  12. Advances in laboratory diagnosis of hereditary spherocytosis.

    Science.gov (United States)

    Farias, Mariela Granero

    2016-11-12

    Among the red cell membrane disorders, hereditary spherocytosis (HS) is one of the most common causes of inherited hemolytic anemia. HS results from the deficiency or dysfunction of red blood cell membrane proteins, such as α spectrin, β spectrin, ankyrin, anion channel protein (Band-3 protein), protein 4.1 and protein 4.2. Conventionally, HS diagnosis is established through a series of tests, which include spherocytes identification in peripheral smear, reticulocyte count, osmotic fragility, etc. Currently, different hematological analyzers provide erythrocyte indicators that estimate the presence of spherocytes and correlate that with HS, which can be useful for disease screening. The most traditional method is the osmotic fragility (OF) test, which is labor-intensive and time-consuming to perform and presents low sensitivity and specificity values. Thus, new methods have been developed for HS diagnosis, such as flow cytometry. Current guidelines recommend the use of flow cytometry as a screening test for HS diagnosis using the eosin-5'-maleimide (EMA) binding test. Thus, HS diagnosis is the result of a collaboration between clinicians and laboratories, who should take into account the family history and the exclusion of other causes of secondary spherocytosis.

  13. Automated reticulocyte parameters for hereditary spherocytosis screening.

    Science.gov (United States)

    Lazarova, Elena; Pradier, Olivier; Cotton, Frédéric; Gulbis, Béatrice

    2014-11-01

    The laboratory diagnosis of hereditary spherocytosis (HS) is based on several screening and confirmatory tests; our algorithm includes clinical features, red blood cell morphology analysis and cryohaemolysis test, and, in case of positive screening, sodium dodecyl sulphate polyacrylamide gel electrophoresis as a diagnostic test. Using the UniCel DxH800 (Beckman Coulter) haematology analyser, we investigated automated reticulocyte parameters as HS screening tool, i.e. mean reticulocyte volume (MRV), immature reticulocyte fraction (IRF) and mean sphered cell volume (MSCV). A total of 410 samples were screened. Gel electrophoresis was applied to 159 samples that were positive for the screening tests. A total of 48 patients were diagnosed as HS, and seven were diagnosed as acquired autoimmune haemolytic anaemia (AIHA). Some other 31 anaemic conditions were also studied. From the receiver operating characteristic (ROC) curve analysis, both delta (mean cell volume (MCV)-MSCV) and MRV presented an area under the curve (AUC) of 0.98. At the diagnostic cut-off of 100 % sensitivity, MRV showed the best specificity of 88 % and a positive likelihood ratio of 8.7. The parameters IRF, MRV and MSCV discriminated HS not only from controls and other tested pathologies but also from AIHA contrary to the cryohaemolysis test. In conclusion, automated reticulocyte parameters might be helpful for haemolytic anaemia diagnostic orientation even for general laboratories. In combination with cryohaemolysis, they ensure an effective and time-saving screening for HS for more specialised laboratories.

  14. Multimodal Imaging in Hereditary Retinal Diseases

    Directory of Open Access Journals (Sweden)

    Francesco Pichi

    2013-01-01

    Full Text Available Introduction. In this retrospective study we evaluated the multimodal visualization of retinal genetic diseases to better understand their natural course. Material and Methods. We reviewed the charts of 70 consecutive patients with different genetic retinal pathologies who had previously undergone multimodal imaging analyses. Genomic DNA was extracted from peripheral blood and genotyped at the known locus for the different diseases. Results. The medical records of 3 families of a 4-generation pedigree affected by North Carolina macular dystrophy were reviewed. A total of 8 patients with Stargardt disease were evaluated for their two main defining clinical characteristics, yellow subretinal flecks and central atrophy. Nine male patients with a previous diagnosis of choroideremia and eleven female carriers were evaluated. Fourteen patients with Best vitelliform macular dystrophy and 6 family members with autosomal recessive bestrophinopathy were included. Seven patients with enhanced s-cone syndrome were ascertained. Lastly, we included 3 unrelated patients with fundus albipunctatus. Conclusions. In hereditary retinal diseases, clinical examination is often not sufficient for evaluating the patient’s condition. Retinal imaging then becomes important in making the diagnosis, in monitoring the progression of disease, and as a surrogate outcome measure of the efficacy of an intervention.

  15. Episodic neurological dysfunction in hereditary peripheral neuropathy

    Directory of Open Access Journals (Sweden)

    Girish Baburao Kulkarni

    2015-01-01

    Full Text Available Episodic transient neurological symptoms are an important set of problems presenting to a neurologist in his routine practice. Occasionally, detailed clinical history including past and family history supplemented with focused examination can bring out a rare cause for such symptoms. We describe in this report in a young male presenting with episodic focal neurological dysfunction, with family history of similar episodes in mother and brother. Examination showed features of pes cavus and peripheral neuropathy for which patient was asymptomatic. Mother and brother were established cases of hereditary neuropathy. Imaging on multiple occasions showed reversible white matter abnormalities. Clinical suspicion of X-linked Charcot-Marie-Tooth disease type 1 (CMT1X was confirmed with detection of mutation in Gap Junction B1 (GJB1 gene, which codes for connexin 32 protein (c.425G>A; p.R142Q hemizygous mutation. Though this mutation has been already reported in CMTX patients, it has not been associated with transient neurological dysfunctions. This is probably the first reported case of CMTX patient with transient neurological dysfunction from India, whose family members had similar episodes.

  16. Leber hereditary optic neuropathy: current perspectives.

    Science.gov (United States)

    Meyerson, Cherise; Van Stavern, Greg; McClelland, Collin

    2015-01-01

    Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction. The primary cell type that is lost in LHON is the retinal ganglion cell, which is highly susceptible to disrupted ATP production and oxidative stress. Inheritance of LHON follows that of mitochondrial genetics, and it has a highly variable clinical phenotype, as other genetic and environmental factors also play a role. Although LHON usually presents with isolated vision loss, some patients suffer other neurological sequelae. For ill-defined reasons, male LHON mutation carriers are more affected than females. Most LHON patients remain legally blind, but a small proportion can experience spontaneous partial recovery, often within the first year of symptom onset. Unfortunately, at this time there are no established curative interventions and treatment is largely supportive. Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol. Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells.

  17. Pathogenesis of acidosis in hereditary fructose intolerance.

    Science.gov (United States)

    Richardson, R M; Little, J A; Patten, R L; Goldstein, M B; Halperin, M L

    1979-11-01

    An 18-yr-old man with a classical history of hereditary fructose intolerance (HFI) developed typical biochemical changes following an oral fructose load: fructosemia, hypoglycemia, hypophosphatemia, hyperuricemia, and metabolic acidosis. Hypokalemia (3.1 meq/liter) was also noted. Three aspects of this case expand the published literature on this syndrome: (1) Metabolic acidosis was found to be due to both lactic acidosis and proximal renal tubular acidosis (RTA). We could quantitate the relative contribution of each, and found that urinary bicarbonate loss due to proximal RTA accounted for less than 10% of the fall in serum bicarbonate. The major cause of the metabolic acidosis was lactic acidosis. (2) Hypokalemia was found to be due to movement of potassium out of the extracellular space rather than to urinary loss. Potassium may have entered cells with phosphate or may have been sequestered in the gastrointestinal tract. (3) The coexistence of proximal RTA and acidemia made it possible to study the effect of acidemia on the urine-blood partial pressure of carbon dioxide (PCO2) gradient in alkaline urine (U-B PCO2). The U-B PCO2 measured during acidemia was much higher at the same urine bicarbonate concentration than in normal controls during alkalemia, providing evidence in humans that acidemia stimulates distal nephron hydrogen-ion secretion.

  18. Leber hereditary optic neuropathy: current perspectives

    Science.gov (United States)

    Meyerson, Cherise; Van Stavern, Greg; McClelland, Collin

    2015-01-01

    Leber hereditary optic neuropathy (LHON) is one of the most common inherited optic neuropathies causing bilateral central vision loss. The disorder results from point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction. The primary cell type that is lost in LHON is the retinal ganglion cell, which is highly susceptible to disrupted ATP production and oxidative stress. Inheritance of LHON follows that of mitochondrial genetics, and it has a highly variable clinical phenotype, as other genetic and environmental factors also play a role. Although LHON usually presents with isolated vision loss, some patients suffer other neurological sequelae. For ill-defined reasons, male LHON mutation carriers are more affected than females. Most LHON patients remain legally blind, but a small proportion can experience spontaneous partial recovery, often within the first year of symptom onset. Unfortunately, at this time there are no established curative interventions and treatment is largely supportive. Patients should be offered low vision services and counseled on mitigating risk factors for additional vision loss, such as smoking and consuming alcohol. Encouraging treatments currently undergoing investigation includes ubiquinone analogs, such as idebenone, as well as gene therapy and stem cells to restore ATP synthesis and provide neuroprotection to surviving retinal ganglion cells. PMID:26170609

  19. [Designation criteria for Leber's hereditary optic neuropathy].

    Science.gov (United States)

    Nakamura, Makoto; Mimura, Osamu; Wakakura, Masato; Inatani, Masaru; Nakazawa, Toru; Shiraga, Fumio

    2015-05-01

    Designation criteria for Leber's hereditary optic neuropathy (LHON) have been established by a working group for retino-choroidal and optic atrophy funded by the Ministry of Health, Labor, and Welfare (MHLW) of Japan in collaboration with the Japanese Neuro-ophthalmology Society. The criteria are composed of three major symptoms and three ancillary test findings. According to the number and the combination of these symptoms and findings, subjects are classified into definite, probable, and possible LHON cases and asymptomatic carriers. The major symptoms include bilateral involvement with a time-lag, a papillomacular bundle atrophy, both characteristic optic disc findings at the acute phase. In the ancillary testings, mitochondrial DNA mutations specific for LHON are detailed with a table listing the mutation loci being attached. To enhance readers' understanding of description of the major symptoms and ancillary test findings, explanatory remarks on 11 parameters are supplemented. The establishment of the criteria facilitates epidemiological survey of LHON by MHLW and contributes to improvement of welfare for patients with LHON in Japan.

  20. [Hereditary sideroblastic anemia: a rare diagnosis].

    Science.gov (United States)

    Brahem-Jmili, N; Salem, N; Abdelkefi, S; Champ, B Grand; Bekri, S; Sboui, H; Mahjoub, T; Yacoub, S; Kortas, M

    2004-01-01

    Hereditary sideroblastic anemia is a very rare disease recessive and X-linked that affect heme biosynthesis by deficit or decreased of delta aminolevulinic acid synthase (ALAS) activity. We report a case of a six-month-old boy, admitted in the hospital for anemic syndrome. The hemogram showed anemia (hemoglobin: 4.5 g/dL), frankly hypochronic microcytic and a regenerated (mean corpuscular hemoglobin concentration: 26 g/dL, mean cell volume: 53 fl, reticulocytes: 10 x 10(9)/L) with red cells morphologic disorders in smears (anisopoikylocytosis) without attack of the other lineages; white blood cells: 11 x 10(9)/L (neutrophils: 64% and lymphocytes: 35%); platelets: 350 x 10(9)/L. Examination of bone marrow showed an important erythroid hyperplasia (about 69%) with dyserythropoiesis. Perls stain revealed intense siderosis with 90% of ringed sideroblasts and a large number of siderocytes. Exploration of ALAS2 and ABC7 genes on the DNA of the infant was not found abnormalities. Treatment with pyridoxine corrects moderately the anemia. By the way, we proposed to remind that iron deficiency, inflammatory syndrome and thalassemia are the common microcytic anemia. However, it's mandatory to explore other causes if diagnosis is not solved.

  1. Hypercoagulability in hereditary hemorrhagic telangiectasia with epilepsy

    Directory of Open Access Journals (Sweden)

    Josef Finsterer

    2015-01-01

    Full Text Available Recent data indicate that in patients with hereditary hemorrhagic teleangiectasia (HHT, low iron levels due to inadequate replacement after hemorrhagic iron losses are associated with elevated factor-VIII plasma levels and consecutively increased risk of venous thrombo-embolism. Here, we report a patient with HHT, low iron levels, elevated factor-VIII, and recurrent venous thrombo-embolism. A 64-year-old multimorbid Serbian gipsy was diagnosed with HHT at age 62 years. He had a history of recurrent epistaxis, teleangiectasias on the lips, renal and pulmonary arterio-venous malformations, and a family history positive for HHT. He had experienced recurrent venous thrombosis (mesenteric vein thrombosis, portal venous thrombosis, deep venous thrombosis, insufficiently treated with phenprocoumon during 16 months and gastro-intestinal bleeding. Blood tests revealed sideropenia and elevated plasma levels of coagulation factor-VIII. His history was positive for diabetes, arterial hypertension, hyperlipidemia, smoking, cerebral abscess, recurrent ischemic stroke, recurrent ileus, peripheral arterial occluding disease, polyneuropathy, mild renal insufficiency, and epilepsy. Following recent findings, hypercoagulability was attributed to the sideropenia-induced elevation of coagulation factor-VIII. In conclusion, HHT may be associated with hypercoagulability due to elevated factor-VIII associated with low serum iron levels from recurrent bleeding. Iron substitution may prevent HHT patients from hypercoagulability.

  2. Hereditary pancreatitis and secondary screening for early pancreatic cancer.

    Science.gov (United States)

    Vitone, L J; Greenhalf, W; Howes, N R; Neoptolemos, J P

    2005-01-01

    Hereditary pancreatitis is an autosomal dominant disease with incomplete penetrance (80%), accounting for approximately 1% of all cases of pancreatitis. It is characterized by the onset of recurrent attacks of acute pancreatitis in childhood and frequent progression to chronic pancreatitis. Whitcomb et al. identified the cationic trypsinogen gene (PRSS1) on chromosome 7q35 as the site of the mutation that causes hereditary pancreatitis. The European registry of hereditary pancreatitis and familial pancreatic cancer (EUROPAC) aims to identify and make provisions for those affected by hereditary pancreatitis and familial pancreatic cancer. The most common mutations in hereditary pancreatitis are R122H, N29I and A16V but many families have been described with clinically defined hereditary pancreatitis where there is no PRSS1 mutation. It is known that the cumulative lifetime risk (to age 70 years) of pancreatic cancer is 40% in individuals with hereditary pancreatitis. This subset of individuals form an ideal group for the development of a screening programme aimed at detecting pancreatic cancer at an early stage in an attempt to improve the presently poor long-term survival. Current screening strategies involve multimodality imaging (computed tomography, endoluminal ultrasound) and endoscopic retrograde cholangiopancreatography for pancreatic juice collection followed by molecular analysis of the DNA extracted from the juice. The potential benefit of screening (curative resection) must be balanced against the associated morbidity and mortality of surgery. Philosophically, the individual's best interest must be sought in light of the latest advances in medicine and science following discussions with a multidisciplinary team in specialist pancreatic centres.

  3. Methods for dehydration of sugars and sugar alcohols

    Energy Technology Data Exchange (ETDEWEB)

    Holladay, Johnathan E [Kennewick, WA; Hu, Jianli [Kennewick, WA; Zhang, Xinjie [Burlington, MA; Wang, Yong [Richland, WA

    2010-08-10

    The invention includes a method of dehydration of a sugar using a dehydration catalyst and a co-catalyst within a reactor. A sugar is introduced and H.sub.2 is flowed through the reactor at a pressure of less than or equal to about 300 psig to convert at least some of the sugar into an anhydrosugar product. The invention includes a process for producing isosorbide. A starting material comprising sorbitol is flowed into a reactor. H.sub.2 is counter flowed through the reactor. The starting material is exposed to a catalyst in the presence of a co-catalyst which comprises at least one metal. The exposing is conducted at a hydrogen pressure of less than or equal to 300 psig within the reactor and the hydrogen removes at least some of any water present during the exposing and inhibits formation of colored byproducts.

  4. Dehydration Process of Hofmann-Type Layered Solids

    Directory of Open Access Journals (Sweden)

    Edilso Reguera

    2013-04-01

    Full Text Available In the present work the dehydration process of layered solids with formula unit M(H2O2[Ni(CN4]·nH2O, M = Ni, Co, Mn; n = 1, 2, 4 is studied using modulated thermogravimetry. The results show that water molecules need to overcome an energetic barrier (activation energy between 63 and 500 kJ/mol in order to diffuse through the interlayer region. The related kinetic parameters show a dependence on the water partial pressure. On the other hand, X-ray diffraction results provide evidence that the dehydration process is accompanied by framework collapse, limiting the structural reversibility, except for heating below 80 °C where the ordered structure remains. Removal of water molecules from the interlayer region disrupts the long-range structural order of the solid.

  5. Metal organic framework MIL-101(Cr) for dehydration reactions

    Indian Academy of Sciences (India)

    M Suresh; B David Raju; K S Rama Rao; K Raveendranath Reddy; M Lakshmi Kantam; Pavuluri Srinivasu

    2014-03-01

    Porous chromium terephthalate MIL-101 (Cr-MIL-101) has been prepared by direct method under hydrothermal conditions and characterized using X-ray diffraction, N2 sorption, TGA and FT-IR. The nitrogen adsorption-desorption isotherm shows that the Cr-MIL-101 possesses BET specific surface area of 2563 m2/g. Catalytic performance of Cr-MIL-101 in the dehydration of 1,4-butanediol and 1-phenylethanol is assessed under vapour phase conditions in the temperature range of 513-533 K and time on stream (TOS) at 513 K. Cr-MIL-101 demonstrates superior catalytic activity with conversion of 95% of 1-phenylethanol. Moreover, high surface area and nanocages with coordinated unsaturated sites of Cr-MIL-101 have allowed us to attain higher dehydrated products selectivity than Cr-supported activated carbon (Cr/AC), amberlyst-15 and HZSM-5 catalysts.

  6. The hydration/dehydration behavior of aspartame revisited.

    Science.gov (United States)

    Guguta, C; Meekes, H; de Gelder, R

    2008-03-13

    Aspartame, l-aspartyl-l-phenylalanine methyl ester, has two hydrates (IA and IB), a hemi-hydrate (IIA) and an anhydrate (IIB). The hydration/dehydration behavior of aspartame was investigated using hot-humidity stage X-ray powder diffraction (XRPD) and molecular mechanics modeling in combination with differential scanning calorimetry (DSC) and thermogravimetric analysis (TGA). The results of this study are compared to earlier studies on aspartame as described in literature. It is shown that earlier transition studies were hampered by incomplete conversions and wrong assignment of the forms. The combination of the techniques applied in this study now shows consistent results for aspartame and yields a clear conversion scheme for the hydration/dehydration behavior of the four forms.

  7. Nocturnal lagophthalmos: never seen before in hypernatraemic dehydration.

    Science.gov (United States)

    Rai, Birendra; Moka, Sudha; Sharif, Farhana

    2014-04-11

    We present two cases in which a 10-month-old male infant and another 15-month-old female child presented with symptoms of sleeping with their eyes wide open (lagophthalmos) with features of gastroenteritis (GE) and dehydration. The first child had been seen and discharged the previous day from the paediatric emergency department (ED) with a diagnosis of GE. He presented the following day with sleeping discomfort with his eyes wide open and ongoing symptoms of GE. The second child presented to the ED with features of GE. She was found to be sleeping in the ED with her eyes wide open. Investigations of both children revealed hypernatraemic dehydration. Correction of the electrolyte imbalance in both cases over a period of 48 h led to the resolution of symptoms.

  8. Hereditary Spherocytosis and Hereditary Elliptocytosis: Aberrant Protein Sorting during Erythroblast Enucleation

    Energy Technology Data Exchange (ETDEWEB)

    Salomao, Marcela; Chen, Ke; Villalobos, Jonathan; Mohandas, Narla; An, Xiuli; Chasis, Joel Anne

    2010-02-08

    During erythroblast enucleation, membrane proteins distribute between extruded nuclei and reticulocytes. In hereditary spherocytosis (HS) and hereditary elliptocytosis (HE), deficiencies of membrane proteins, in addition to those encoded by the mutant gene, occur. Elliptocytes, resulting from protein 4.1R gene mutations, lack not only 4.1R but also glycophorin C, which links the cytoskeleton and bilayer. In HS resulting from ankyrin-1 mutations, band 3, Rh-associated antigen, and glycophorin A are deficient. The current study was undertaken to explore whether aberrant protein sorting, during enucleation, creates these membrane-spanning protein deficiencies. We found that although glycophorin C sorts to reticulocytes normally, it distributes to nuclei in 4.1R-deficient HE cells. Further, glycophorin A and Rh-associated antigen, which normally partition predominantly to reticulocytes, distribute to both nuclei and reticulocytes in an ankyrin-1-deficient murine model of HS. We conclude that aberrant protein sorting is one mechanistic basis for protein deficiencies in HE and HS.

  9. Mechanisms of Aerobic Performance Impairment With Heat Stress and Dehydration

    Science.gov (United States)

    2010-08-01

    uptake ( VO2max ), which leads to higher relative exercise intensity and an exponential decline in aerobic performance at any given exercise workload...reductions, which combine to accentuate cardiovascular strain and reduce VO2max . Importantly, the negative performance consequences of dehydration...environmental heat stress on aerobic exercise “performance” has been evaluated using time to exhaustion (TTE) tests (incremental or constant work rate) and

  10. Dehydration of Aromatic Heterocyclic Carboxamides to Aromatic Heterocyclic Carbonitriles

    Directory of Open Access Journals (Sweden)

    Werner Bonrath

    1997-11-01

    Full Text Available Phosphorus pentoxide is commonly used for the dehydration of heterocyclic carboxamides to the corresponding nitriles. In this report, the use of cyanuric chloride/N,N-disubstituted formamide for this reaction is described. The advantages of this procedure are mild reaction conditions and good yields. Depending on the reaction conditions and the structures of the amides, the nitriles are obtained in yields from 51% to 99%. Several of the oxazole carbonitriles synthesized by this procedure have not yet been described.

  11. Methanol dehydration on carbon-based acid catalysts

    OpenAIRE

    Valero-Romero, Mª José; Calvo-Muñoz, Elisa Mª; Ruiz-Rosas, Ramiro; Rodríguez-Mirasol, José; Cordero, Tomás

    2013-01-01

    Methanol dehydration to produce dimethyl ether (DME) is an interesting process for the chemical industry since DME is an important intermediate and a promising clean alternative fuel for diesel engines. Pure or modified γ-aluminas (γ-Al2O3) and zeolites are often used as catalysts for this reaction. However, these materials usually yield non desirable hydrocarbons and undergo fast deactivation. In this work, we study the catalytic conversion of methanol over an acid carbon catalyst obtaine...

  12. Modelling of mass transfer kinetic in osmotic dehydration of kiwifruit

    Science.gov (United States)

    Jabrayili, Sharokh; Farzaneh, Vahid; Zare, Zahra; Bakhshabadi, Hamid; Babazadeh, Zahra; Mokhtarian, Mohsen; Carvalho, Isabel S.

    2016-04-01

    Osmotic dehydration characteristics of kiwifruit were predicted by different activation functions of an artificial neural network. Osmotic solution concentration (y1), osmotic solution temperature (y2), and immersion time (y3) were considered as the input parameters and solid gain value (x1) and water loss value (x2) were selected as the outlet parameters of the network. The result showed that logarithm sigmoid activation function has greater performance than tangent hyperbolic activation function for the prediction of osmotic dehydration parameters of kiwifruit. The minimum mean relative error for the solid gain and water loss parameters with one hidden layer and 19 nods were 0.00574 and 0.0062% for logarithm sigmoid activation function, respectively, which introduced logarithm sigmoid function as a more appropriate tool in the prediction of the osmotic dehydration of kiwifruit slices. As a result, it is concluded that this network is capable in the prediction of solid gain and water loss parameters (responses) with the correlation coefficient values of 0.986 and 0.989, respectively.

  13. Structural characterisation and dehydration behaviour of siramesine hydrochloride.

    Science.gov (United States)

    Zimmermann, Anne; Tian, Fang; de Diego, Heidi Lopez; Frydenvang, Karla; Rantanen, Jukka; Elema, Michiel Ringkjøbing; Hovgaard, Lars

    2009-10-01

    In this study the crystal structures of siramesine hydrochloride anhydrate alpha-form and siramesine hydrochloride monohydrate were determined, and this structural information was used to explain the physicochemical properties of the two solid forms. In the crystal structure of the monohydrate, each water molecule is hydrogen bonded to two chloride ions, and thus the water is relatively strongly bound in the crystal. No apparent channels for dehydration were observed in the monohydrate structure, which could allow transmission of structural information during dehydration. Instead destructive dehydration occurred, where the elimination of water from the monohydrate resulted in the formation of an oily phase, which subsequently recrystallised into one or more crystalline forms. Solubility and intrinsic dissolution rate of the anhydrate alpha-form and the monohydrate in aqueous media were investigated and both were found to be lower for the monohydrate compared to the anhydrate alpha-form. Finally, the interactions between water molecules and chloride ions in the monohydrate as well as changes in packing induced by water incorporation could be detected by spectroscopic techniques.

  14. Dehydration Influences Mood and Cognition: A Plausible Hypothesis?

    Directory of Open Access Journals (Sweden)

    David Benton

    2011-05-01

    Full Text Available The hypothesis was considered that a low fluid intake disrupts cognition and mood. Most research has been carried out on young fit adults, who typically have exercised, often in heat. The results of these studies are inconsistent, preventing any conclusion. Even if the findings had been consistent, confounding variables such as fatigue and increased temperature make it unwise to extrapolate these findings. Thus in young adults there is little evidence that under normal living conditions dehydration disrupts cognition, although this may simply reflect a lack of relevant evidence. There remains the possibility that particular populations are at high risk of dehydration. It is known that renal function declines in many older individuals and thirst mechanisms become less effective. Although there are a few reports that more dehydrated older adults perform cognitive tasks less well, the body of information is limited and there have been little attempt to improve functioning by increasing hydration status. Although children are another potentially vulnerable group that have also been subject to little study, they are the group that has produced the only consistent findings in this area. Four intervention studies have found improved performance in children aged 7 to 9 years. In these studies children, eating and drinking as normal, have been tested on occasions when they have and not have consumed a drink. After a drink both memory and attention have been found to be improved.

  15. Dehydration influences mood and cognition: a plausible hypothesis?

    Science.gov (United States)

    Benton, David

    2011-05-01

    The hypothesis was considered that a low fluid intake disrupts cognition and mood. Most research has been carried out on young fit adults, who typically have exercised, often in heat. The results of these studies are inconsistent, preventing any conclusion. Even if the findings had been consistent, confounding variables such as fatigue and increased temperature make it unwise to extrapolate these findings. Thus in young adults there is little evidence that under normal living conditions dehydration disrupts cognition, although this may simply reflect a lack of relevant evidence. There remains the possibility that particular populations are at high risk of dehydration. It is known that renal function declines in many older individuals and thirst mechanisms become less effective. Although there are a few reports that more dehydrated older adults perform cognitive tasks less well, the body of information is limited and there have been little attempt to improve functioning by increasing hydration status. Although children are another potentially vulnerable group that have also been subject to little study, they are the group that has produced the only consistent findings in this area. Four intervention studies have found improved performance in children aged 7 to 9 years. In these studies children, eating and drinking as normal, have been tested on occasions when they have and not have consumed a drink. After a drink both memory and attention have been found to be improved.

  16. Phases transformation of nickel lateritic ore during dehydration

    Directory of Open Access Journals (Sweden)

    Huang Q.

    2011-01-01

    Full Text Available The high magnesium nickel laterite ore need first be dehydrated if it is treated by the pirometallurgical means. The nickel laterite ore was dehydrated in a laboratory scale sintering pot in this study. The dehydration mechanism was studied by using the thermo-gravimetric (TG tests, differential thermal analysis (DTA, and X-ray diffraction (XRD experiments. The measurements indicated that chlorite (Fe,Mg,Al6(Si,Al4O10(OH8 and serpentine Mg21Si12O28(OH34H2O are the primary phases, while FeO(OH and (Fe,Mg,3Si4O10(OH2 are the minor phases in the ore. The water in the ore can be divided as free water, crystal water, and hydroxyl group. During the heating process, the temperature range for the removal of the free water is 25~140˚C, for the crystal water it is 200~480 ˚C, and for the hydroxyl group it is 500~800˚C. The experiments with various coal dosages show that the temperatures of off-gas and burden increase with an increase in coal dosage. The sinter samples were analyzed using XRD. The results demonstrated that olivine (Mg,Fe2SiO4 and spinel MgFe2O4 are the main bonding phases.

  17. Iron overload in a teenager with xerocytosis: the importance of nuclear magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Assis, Reijâne Alves de; Kassab, Carolina; Seguro, Fernanda Salles [Hospital Israelita Albert Einstein, São Paulo, SP (Brazil); Costa, Fernando Ferreira [Universidade Estadual de Campinas, Campinas, SP (Brazil); Silveira, Paulo Augusto Achucarro [Hospital Israelita Albert Einstein, São Paulo, SP (Brazil); Wood, John [University of Southern California, California (United States); Hamerschlak, Nelson [Hospital Israelita Albert Einstein, São Paulo, SP (Brazil)

    2013-07-01

    To report a case of iron overload secondary to xerocytosis, a rare disease in a teenager, diagnosed, by T2* magnetic resonance imaging. We report the case of a symptomatic patient with xerocytosis, a ferritin level of 350ng/mL and a significant cardiac iron overload. She was diagnosed by T2* magnetic resonance imaging and received chelation therapy Ektacytometric analysis confirmed the diagnosis of hereditary xerocytosis. Subsequent T2* magnetic resonance imaging demonstrated complete resolution of the iron overload in various organs, as a new echocardiography revealed a complete resolution of previous cardiac alterations. The patient remains in chelation therapy. Xerocytosis is a rare autosomal dominant genetic disorder characterized by dehydrated stomatocytosis. The patient may present with intense fatigue and iron overload. We suggest the regular use of T2* magnetic resonance imaging for the diagnosis and control of the response to iron chelation in xerocytosis, and we believe it can be used also in other hemolytic anemia requiring transfusions.

  18. The structure of a conserved piezo channel domain reveals a topologically distinct β sandwich fold.

    Science.gov (United States)

    Kamajaya, Aron; Kaiser, Jens T; Lee, Jonas; Reid, Michelle; Rees, Douglas C

    2014-10-07

    Piezo has recently been identified as a family of eukaryotic mechanosensitive channels composed of subunits containing over 2,000 amino acids, without recognizable sequence similarity to other channels. Here, we present the crystal structure of a large, conserved extramembrane domain located just before the last predicted transmembrane helix of C. elegans PIEZO, which adopts a topologically distinct β sandwich fold. The structure was also determined of a point mutation located on a conserved surface at the position equivalent to the human PIEZO1 mutation found in dehydrated hereditary stomatocytosis patients (M2225R). While the point mutation does not change the overall domain structure, it does alter the surface electrostatic potential that may perturb interactions with a yet-to-be-identified ligand or protein. The lack of structural similarity between this domain and any previously characterized fold, including those of eukaryotic and bacterial channels, highlights the distinctive nature of the Piezo family of eukaryotic mechanosensitive channels.

  19. Analysis of Dehydration and Strength in Elite Badminton Players

    Science.gov (United States)

    Abián-Vicén, Javier; Del Coso, Juan; González-Millán, Cristina; Salinero, Juan José; Abián, Pablo

    2012-01-01

    Background The negative effects of dehydration on aerobic activities are well established. However, it is unknown how dehydration affects intermittent sports performance. The purpose of this study was to identify the level of dehydration in elite badminton players and its relation to muscle strength and power production. Methodology Seventy matches from the National Spanish badminton championship were analyzed (46 men’s singles and 24 women’s singles). Before and after each match, jump height and power production were determined during a countermovement jump on a force platform. Participants’ body weight and a urine sample were also obtained before and after each match. The amount of liquid that the players drank during the match was also calculated by weighing their individual drinking bottles. Results and Discussion Sweat rate during the game was 1.14±0.46 l/h in men and 1.02±0.64 l/h in women. The players rehydrated at a rate of 1.10±0.55 l/h and 1.01±0.44 l/h in the male and female groups respectively. Thus, the dehydration attained during the game was only 0.37±0.50% in men and 0.32±0.83% in women. No differences were found in any of the parameters analyzed during the vertical jump (men: from 31.82±5.29 to 32.90±4.49 W/kg; p>0.05, women: from 26.36±4.73 to 27.25±4.44 W/kg; p>0.05). Post-exercise urine samples revealed proteinuria (60.9% of cases in men and 66.7% in women), leukocyturia (men = 43.5% and women = 50.0%) and erythrocyturia (men = 50.0% and women = 21.7%). Conclusions Despite a moderate sweat rate, badminton players adequately hydrated during a game and thus the dehydration attained was low. The badminton match did not cause muscle fatigue but it significantly increased the prevalence of proteinuria, leukocyturia and erythrocyturia. PMID:22666396

  20. Analysis of dehydration and strength in elite badminton players.

    Directory of Open Access Journals (Sweden)

    Javier Abián-Vicén

    Full Text Available BACKGROUND: The negative effects of dehydration on aerobic activities are well established. However, it is unknown how dehydration affects intermittent sports performance. The purpose of this study was to identify the level of dehydration in elite badminton players and its relation to muscle strength and power production. METHODOLOGY: Seventy matches from the National Spanish badminton championship were analyzed (46 men's singles and 24 women's singles. Before and after each match, jump height and power production were determined during a countermovement jump on a force platform. Participants' body weight and a urine sample were also obtained before and after each match. The amount of liquid that the players drank during the match was also calculated by weighing their individual drinking bottles. RESULTS AND DISCUSSION: Sweat rate during the game was 1.14 ± 0.46 l/h in men and 1.02 ± 0.64 l/h in women. The players rehydrated at a rate of 1.10 ± 0.55 l/h and 1.01 ± 0.44 l/h in the male and female groups respectively. Thus, the dehydration attained during the game was only 0.37 ± 0.50% in men and 0.32 ± 0.83% in women. No differences were found in any of the parameters analyzed during the vertical jump (men: from 31.82 ± 5.29 to 32.90 ± 4.49 W/kg; p>0.05, women: from 26.36 ± 4.73 to 27.25 ± 4.44 W/kg; p>0.05. Post-exercise urine samples revealed proteinuria (60.9% of cases in men and 66.7% in women, leukocyturia (men = 43.5% and women = 50.0% and erythrocyturia (men = 50.0% and women = 21.7%. CONCLUSIONS: Despite a moderate sweat rate, badminton players adequately hydrated during a game and thus the dehydration attained was low. The badminton match did not cause muscle fatigue but it significantly increased the prevalence of proteinuria, leukocyturia and erythrocyturia.

  1. [Hereditary pathology of the enamel and dentin. A review of molecular genetic research].

    Science.gov (United States)

    Beliakov, Iu A; Elizarova, V M; Krotov, V A; Blinnikova, O E

    2000-01-01

    Mapped phenotype of imperfect amelogenesis, type II imperfect dentinogenesis, hereditary opalescent dentin, Capdepont's dysplasia, and type II dentin dysplasia is described for the first time in Russia. Classification of hereditary disorders in dentin development is presented.

  2. Chapter 22: Hereditary and acquired angioedema.

    Science.gov (United States)

    Georgy, Mary S; Pongracic, Jacqueline A

    2012-01-01

    Hereditary angioedema (HAE) is an autosomal dominant disorder defined by a deficiency of functional C1 esterase inhibitor (C1-INH). Acquired angioedema (AAE) is caused by either consumption (type 1) or inactivation (type 2) of CI-INH. Both HAE and AAE can be life-threatening. The screening test for both conditions is complement component C4, which is low to absent at times of angioedema or during quiescent periods. A useful test to differentiate HAE from AAE is C1q protein, which is normal in HAE and low in AAE. There are three types of HAE: type 1 HAE is most common, occurring in ∼85% of patients and characterized by decreased production of C1-INH, resulting in reduced functional activity to 5-30% of normal. In type 2, which occurs in 15% of cases, C1-INH is detectable in normal or elevated quantities but is dysfunctional. Finally, type 3, which is rare and almost exclusively occurs in women, is estrogen dependent and associated with normal CI-INH and C4 levels. One-third of these patients have a gain-of-function mutation in clotting factor XII leading to kallikrein-driven bradykinin production. Although the anabolic steroid, danazol, is useful in increasing the concentration of C4 and reducing the episodes of angioedema in HAE and AAE, it has expected adverse effects. Fortunately, disease-specific therapies are available and include C1-INH enzyme for i.v. infusion either acutely or empirically, ecallantide, an inhibitor of kallikrein, and icatibant, a bradykinin B2-receptor antagonist, both approved for acute angioedema and administered, subcutaneously.

  3. Use of ecallantide in pediatric hereditary angioedema.

    Science.gov (United States)

    MacGinnitie, Andrew J; Davis-Lorton, Mark; Stolz, Leslie E; Tachdjian, Raffi

    2013-08-01

    Hereditary angioedema (HAE) due to C1-inhibitor deficiency is a rare autosomal dominant disease that manifests as sudden unpredictable attacks of subcutaneous or submucosal edema affecting the skin, intestine, and upper airway. Ecallantide is a plasma kallikrein inhibitor indicated for treatment of HAE attacks in patients aged 16 years and older. This analysis examines safety and efficacy of ecallantide for treatment of HAE attacks in patients <18 years of age. Data for patients aged 9 to 17 years treated subcutaneously with 30 mg ecallantide or placebo were pooled from 4 clinical studies (2 double-blind, placebo-controlled and 2 open-label). Efficacy end points included 2 HAE-specific patient-reported outcome measures: mean symptom complex severity (MSCS) score and treatment outcome score (TOS). Times to initial improvement, sustained improvement, and complete or near-complete symptom resolution were calculated. Treatment-emergent adverse events were examined. Overall, 29 pediatric patients were included; 25 of them received ecallantide for 62 total HAE attacks, and 10 received placebo for 10 total attacks. Ecallantide-treated attacks revealed clinically relevant reduction in symptom severity at 4 hours postdosing based on mean change in MSCS score (-1.4 ± 0.9 ecallantide versus -0.9 ± 0.6 placebo) and TOS (73.9 ± 35.50 ecallantide versus 45.0 ± 43.78 placebo). Patients treated with ecallantide showed rapid improvement in symptoms (median time to complete or near-complete symptom resolution: 181 minutes). No serious adverse events related to treatment were observed. Ecallantide appears effective for HAE attacks in adolescents, with rapid symptom improvement. No unexpected safety issues were identified.

  4. Outcomes of Lensectomy in Hereditary Lens Subluxation

    Directory of Open Access Journals (Sweden)

    Mohammad-Hossein Dehghan

    2008-12-01

    Full Text Available

    PURPOSE: To evaluate the results of pars plana lensectomy in patients with hereditary lens subluxation. METHOD: Hospital records of patients with hereditary lens subluxation who had undergone pars plana lensectomy at Labbafinejad Medical Center, Tehran-Iran from 1996 to 2003 were reviewed. Patients with more than 6 months of follow up were included. Underlying disorders, best corrected visual acuity (BCVA before and after surgery, intraocular pressure (IOP, postoperative refraction and complications were evaluated. RESULTS: Overall, records of 87 eyes of 49 patients including 27 male and 22 female subjects were reviewed. Mean follow up duration was 20±18 months. Underlying disorders leading to lens subluxation included Marfan syndrome (79.5%, Weill-Marchesani syndrome (8.2%, simple ectopia lentis (8.2%, and homocystinuria (4.1%. The most common indication for surgery was non-correctable refractive error (92.1%. Mean BCVA was 1.13 LogMAR (20/250 preoperatively, which improved to 0.26 LogMAR (20/30-20/40 postoperatively (P < 0.001. BCVA better than 20/40 was achieved in 82.8% of cases after surgery. Angle-supported anterior chamber intraocular lens (ACIOL was implanted in

  5. Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders.

    Science.gov (United States)

    Da Costa, Lydie; Galimand, Julie; Fenneteau, Odile; Mohandas, Narla

    2013-07-01

    Hereditary spherocytosis and elliptocytosis are the two most common inherited red cell membrane disorders resulting from mutations in genes encoding various red cell membrane and skeletal proteins. Red cell membrane, a composite structure composed of lipid bilayer linked to spectrin-based membrane skeleton is responsible for the unique features of flexibility and mechanical stability of the cell. Defects in various proteins involved in linking the lipid bilayer to membrane skeleton result in loss in membrane cohesion leading to surface area loss and hereditary spherocytosis while defects in proteins involved in lateral interactions of the spectrin-based skeleton lead to decreased mechanical stability, membrane fragmentation and hereditary elliptocytosis. The disease severity is primarily dependent on the extent of membrane surface area loss. Both these diseases can be readily diagnosed by various laboratory approaches that include red blood cell cytology, flow cytometry, ektacytometry, electrophoresis of the red cell membrane proteins, and mutational analysis of gene encoding red cell membrane proteins.

  6. A Case of hereditary spherocytosis coexisting with Gilbert's syndrome.

    Science.gov (United States)

    Lee, Min Jae; Chang, Yoon Hwan; Kang, Seung Hwa; Mun, Se Kwon; Kim, Heyjin; Han, Chul Ju; Kim, Jin; Kang, Hye Jin

    2013-03-25

    We recently encountered a case of hereditary spherocytosis coexisting with Gilbert's syndrome. Patient was initially diagnosed with Gilbert's syndrome and observed, but other findings suggestive of concurrent hemolysis, such as splenomegaly and gallstones were noted during the follow-up period. Therefore, further evaluations, including a peripheral blood smear, osmotic fragility test, autohemolysis test, and red blood cell membrane protein test were performed, and coexisting hereditary spherocytosis was diagnosed. Genotyping of the conjugation enzyme uridine diphosphate-glucuronosyltransferase was used to confirm Gilbert's syndrome. Because of the high prevalence rates and similar symptoms of these 2 diseases, hereditary spherocytosis can be masked in patients with Gilbert's syndrome. In review of a case and other article, the possibility of the coexistence of these 2 diseases should be considered, especially in patients with unconjugated hyperbilirubinemia who also have splenomegaly and gallstones.

  7. Anaesthetic management of a patient with hereditary angioedema

    Directory of Open Access Journals (Sweden)

    Nergis Ataol

    2015-12-01

    Full Text Available Hereditary angioedema is a rare autosomal dominant disorder caused by reduced activity of the C1 esterase inhibitor. Patients with hereditary angioedema are clinically characterized by recurrent episodes of swelling of the extremities, face, trunk, airways and abdominal organs. Attacks may occur either spontaneously or following trauma, stress, surgery, infections and hormonal fluctuations. The most common cause of death is asphyxia related to laryngeal edema. Giving C1 esterase inhibitor is the most effective method of treatment. Also fresh frozen plasma, androgen steroids, quinine pathway inhibitors, antifibrinolytics and bradykinin receptor antagonists can be used as treatment. In this paper, the anesthetic management of a patient with hereditary angioedema undergoing inguinal hernia repair surgery is reported.

  8. Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report

    Directory of Open Access Journals (Sweden)

    Luciano Mesquita Simão

    2012-08-01

    Full Text Available Neuromyelitis optica antibody (or aquaporin-4 antibody is a well stablished serum marker associated to high-risk neuromyelitis optica syndrome that presents as an inflammatory demyelinating disease characterized by the occurrence of bilateral and simultaneous optic neuritis without complete visual recovery or it occurs as an isolated episode of transverse myelitis accompanied by longitudinally extensive spinal cord lesions. On the other hand, Leber hereditary optic neuropathy is a primarily hereditary disorder that affects all tissues of the body and its clinical presentation is tissue-specific for the optic nerve and, eventually, it might reach the spinal cord. Overlapping clinical features of neuromyelitis optica and Leber hereditary optic neuropathy may suggest common target organ diseases. The case report described herein emphasizes the coexistence of serum markers of both diseases, and suggests that further investigation of this challenging clinical presentation is warranted to confirm or rule out this association.

  9. Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report.

    Science.gov (United States)

    Simão, Luciano Mesquita

    2012-01-01

    Neuromyelitis optica antibody (or aquaporin-4 antibody) is a well established serum marker associated to high-risk neuromyelitis optica syndrome that presents as an inflammatory demyelinating disease characterized by the occurrence of bilateral and simultaneous optic neuritis without complete visual recovery or it occurs as an isolated episode of transverse myelitis accompanied by longitudinally extensive spinal cord lesions. On the other hand, Leber hereditary optic neuropathy is a primarily hereditary disorder that affects all tissues of the body and its clinical presentation is tissue-specific for the optic nerve and, eventually, it might reach the spinal cord. Overlapping clinical features of neuromyelitis optica and Leber hereditary optic neuropathy may suggest common target organ diseases. The case report described herein emphasizes the coexistence of serum markers of both diseases, and suggests that further investigation of this challenging clinical presentation is warranted to confirm or rule out this association.

  10. Characteristic modules and tensor products over quasi-hereditary algebras

    Institute of Scientific and Technical Information of China (English)

    Yue-hui ZHANG; Shi-ying SHEN; Ping-kai YE

    2007-01-01

    Let A be a monomial quasi-hereditary algebra with a pure strong exact Borel subalgebra B. It is proved that the category of induced good modules over B is contained in the category of good modules over A; that the characteristic module of A is an induced module of that of B via the exact functor - (×)B A if and only if the induced A-module of an injective B-module remains injective as a B-module. Moreover, it is shown that an exact Borel subalgebra of a basic quasi-hereditary serial algebra is right serial and that the characteristic module of a basic quasi-hereditary serial algebra is exactly the induced module of that of its exact Borel subalgebra.

  11. Characteristic modules and tensor products over quasi-hereditary algebras

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Let A be a monomial quasi-hereditary algebra with a pure strong exact Borel subalgebra B.It is proved that the category of induced good modules over B is contained in the category of good modules over A;that the characteristic module of A is an induced module of that of B via the exact functor-(?)_B A if and only if the induced A-module of an injective B-module remains injective as a B-module.Moreover,it is shown that an exact Borel subalgebra of a basic quasi-hereditary serial algebra is right serial and that the characteristic module of a basic quasi-hereditary serial algebra is exactly the induced module of that of its exact Borel subalgebra.

  12. Principally Left Hereditary and Principally Left Strong Radicals

    Institute of Scientific and Technical Information of China (English)

    S. Tumurbat; R. Wiegandt

    2001-01-01

    A radical γ is normal if and only if γ is principally left hereditary and principally left strong (i.e., γ(L) = L e A and Lz ∈γ for all z ∈ L imply L γ(A)). Let a radical γ satisfy that A°∈γ and S° A° imply S°∈γ.Then γ is a hereditary normal radical if and only if γ is principally left strong and γ {A | (A, +,◇a) ∈γ a ∈ A}, where the multiplication ◇a is defined by x ◇a y = xay. The Behrens radical class B is the largest principally left hereditary subclass of the Brown-McCoy radical class G. Neither3 nor G is principally left strong.

  13. [The significance of Goodpasture antigen in hereditary nephritis].

    Science.gov (United States)

    Basta-Jovanović, Gordana; Radojević-Skodrić, Sanja; Jovanović, Milena; Bogdanović, Ljiljana; Bogdanović, Radovan; Lezaić, Visnja; Nesić, Vidosava; Dikman, Steven

    2008-12-01

    Two types of hereditary nephritis, nonprogressive and progressive, clinically present as asymptomatic haematuria, sometimes combined with proteinuria. At the onset, in both types, light microscopic changes are minimal, immunofluorescence findings are negative, and diagnosis can be made only upon electron microscopic findings that are considered to be specific. The aim of this study was to determine the significance of Goodpasture antigen detection in diagnosis of progressive and nonprogressive hereditary nephritis in its early phase. Analysis of renal biopsy specimens was done in patients with hereditary nephritis that were followed from 1990 to 2005. Progression of renal disease was examined in 14 patients with Alport's syndrome, 10 patients with thin basement membrane disease, and 6 patients with unclassified hereditary nephritis diagnosed. For all these cases, indirect immunofluorescence study with serum from a patient with high titer of Goodpasture autoantibodies that recognize the antigenic determinants in human glomerular and tubular basement membrane was performed. In 11 out of 14 cases diagnosed as Alport's syndrome, there was negative staining with Goodpasture serum, and in 3 additional cases with Alport's syndrome, expression of Goodpasture antigen in glomerular basement membrane and thin basement membrane was highly reduced. In all 10 patients with thin basement membrane disease, immunofluorescence showed intensive, bright linear staining with Goodpasture serum along glomerular and tubular basement membrane. In 2 out of 6 patients with unclassified hereditary nephritis, Goodpasture antigen expression was very strong, in one patient it was very reduced, and in 3 patients it was negative. The results of our study show that Goodpasture antigen detection plays a very important role in differential diagnosis of progressive and nonpregressive hereditary nephritis, particularly in early phases of the disease.

  14. Dehydration-induced vasopressin secretion in humans: involvement of the histaminergic system.

    Science.gov (United States)

    Kjaer, A; Knigge, U; Jørgensen, H; Warberg, J

    2000-12-01

    In rats, the hypothalamic neurotransmitter histamine participates in regulation of vasopressin secretion and seems to be of physiological importance, because blockade of the histaminergic system reduces dehydration-induced vasopressin secretion. We investigated whether histamine is also involved in regulation of vasopressin secretion during dehydration in humans. We found that 40 h of dehydration gradually increased plasma osmolality by 10 mosmol/kg and induced a fourfold increase in vasopressin levels. Pretreatment with the H(2)-receptor antagonists cimetidine or ranitidine significantly reduced the dehydration-induced increase in vasopressin levels approximately 40% after 34 and 37 h of dehydration, whereas this was not the case with the H(1)-receptor antagonist mepyramine. Dehydration reduced aldosterone secretion by approximately 50%. This effect of dehydration was reduced by both H(1)- and H(2)-receptor blockade after 16 and/or 34 h of dehydration. We conclude that vasopressin secretion in response to dehydration in humans is under the regulatory influence of histamine and that the effect seems to be mediated via H(2)-receptors. In addition, the regulation of aldosterone secretion during dehydration also seems to involve the histaminergic system via H(1) and H(2) receptors.

  15. Intragenic Duplication A Novel Mutational Mechanism in Hereditary Pancreatitis

    DEFF Research Database (Denmark)

    Joergensen, M. T.; Geisz, A.; Brusgaard, K.

    2011-01-01

    OBJECTIVES: In a hereditary pancreatitis family from Denmark, we identified a novel intragenic duplication of 9 nucleotides in exon-2 of the human cationic trypsinogen (PRSS1) gene (c.63_71dup) which at the amino-acid level resulted in the insertion of 3 amino acids within the activation peptide...... pancreatitis. The accelerated activation of p.K23_I24insIDK by cathepsin B is a unique biochemical property not found in any other pancreatitis-associated trypsinogen mutant. In contrast, the robust autoactivation of the novel mutant confirms the notion that increased autoactivation is a disease......-relevant mechanism in hereditary pancreatitis....

  16. Hereditary Gigantism-the biblical giant Goliath and his brothers.

    Science.gov (United States)

    Donnelly, Deirdre E; Morrison, Patrick J

    2014-05-01

    The biblical giant Goliath has an identifiable family tree suggestive of autosomal dominant inheritance. We suggest that he had a hereditary pituitary disorder possibly due to the AIP gene, causing early onset and familial acromegaly or gigantism. We comment on the evidence within the scriptures for his other relatives including a relative with six digits and speculate on possible causes of the six digits. Recognition of a hereditary pituitary disorder in the biblical Goliath and his family sheds additional information on his and other family members' battles with David and his relatives.

  17. Mutator gene and hereditary non-polyposis colorectal cancer

    Science.gov (United States)

    de la Chapelle, Albert; Vogelstein, Bert; Kinzler, Kenneth W.

    2008-02-05

    The human MSH2 gene, responsible for hereditary non-polyposis colorectal cancer, was identified by virtue of its homology to the MutS class of genes, which are involved in DNA mismatch repair. The sequence of cDNA clones of the human gene are provided, and the sequence of the gene can be used to demonstrate the existence of germ line mutations in hereditary non-polyposis colorectal cancer (HNPCC) kindreds, as well as in replication error.sup.+ (RER.sup.+) tumor cells.

  18. Diagnostic evaluation of hereditary hemochromatosis (HFE and non-HFE).

    Science.gov (United States)

    Bardou-Jacquet, Edouard; Brissot, Pierre

    2014-08-01

    The management and understanding of hereditary hemochromatosis have evolved with recent advances in iron biology and the associated discovery of numerous genes involved in iron metabolism. HFE-related (type 1) hemochromatosis remains the most frequent form, characterized by C282Y mutation homozygosity. Rare forms of hereditary hemochromatosis include type 2 (A and B, juvenile hemochromatosis caused by HJV and HAMP mutation), type 3 (related to TFR2 mutation), and type 4 (A and B, ferroportin disease). The diagnostic evaluation relies on comprehension of the involved pathophysiologic defect, and careful characterization of the phenotype, which gives clues to guide appropriate genetic testing.

  19. Hereditary benign telangiectasia without family history in China

    Institute of Scientific and Technical Information of China (English)

    CAI Lin; SUN Qing-miao; ZANG Dong-jie; ZHANG Jian-zhong

    2011-01-01

    A case of hereditary benign telangiectasia without family history was reported. A 39-year-old woman presented with small and tiny telangiectases on the face, neck, upper trunk and forearms at birth. The numbers and sizes of the lesions increased gradually and she had no hemorrhagic diathesis and systemic diseases. No similar patients were found in her family. Upon physical examination, telangiectases were found on the face, neck, upper trunk and forearms; and a telangiectatic erythema was found on the right forearm 25 mm ×40 mm in size. Histopathology examination showed a normal epidermis and dilation of the capillaries at upper dermis. Hereditary benign telangiectasia without family history was diagnosed.

  20. [Hereditary hemachromatosis: clinical case report and literature review].

    Science.gov (United States)

    Prochazka, Ricardo; Tagle, Martín

    2006-01-01

    Hemachromatosis is a hereditary condition, producing progressive iron overload as a result of the mutation in proteins that regulate intestinal iron absorption. It is a systemic disease with several manifestations including cirrhosis, diabetes mellitus, cardiomyopathy, joint disease and a proportion of asymptomatic patients. When it is diagnosed and treatment with phlebotomies is initiated before any organ damage is developed, the prognosis is very good, with normal survival free of manifestations. This condition is common in European populations. We report the case of a Peruvian patient of European ancestry who is asymptomatic, but has high levels of aminotransferases and elevated iron markers. Genetic testing confirmed the patient's diagnosis of hereditary hemachromatosis.

  1. The molecular basis of hereditary fructose intolerance in Italian children.

    Science.gov (United States)

    Santamaria, R; Scarano, M I; Esposito, G; Chiandetti, L; Izzo, P; Salvatore, F

    1993-10-01

    We investigated the molecular defects of the aldolase B gene in five unrelated patients affected by hereditary fructose intolerance. The techniques used were DNA amplification, direct sequencing and allele-specific oligonucleotide (ASO) hybridization. The most frequent substitutions found in the hereditary fructose intolerance alleles analysed were the A174D and the A149P mutations, which account for 50% and 30% of the alleles, respectively. In two unrelated families, we found a rare mutation, the MD delta 4 previously described only in one British family, which may be an important cause of the disease in Italy.

  2. The optic nerve head in hereditary optic neuropathies.

    Science.gov (United States)

    O'Neill, Evelyn C; Mackey, David A; Connell, Paul P; Hewitt, Alex W; Danesh-Meyer, Helen V; Crowston, Jonathan G

    2009-05-01

    Hereditary optic neuropathies are a prominent cause of blindness in both children and adults. The disorders in this group share many overlapping clinical characteristics, including morphological changes that occur at the optic nerve head. Accurate and prompt clinical diagnosis, supplemented with imaging when indicated, is essential for optimum management of the relevant optic neuropathy and appropriate counseling of the patient on its natural history. Patient history, visual field assessment, optic disc findings and imaging are the cornerstones of a correct diagnosis. This Review highlights the characteristic optic nerve head features that are common to the various hereditary optic neuropathies, and describes the features that enable the conditions to be differentiated.

  3. [Pathogenic Genes of A Hereditary Hemorrhagic Telangiectasia Pedigree].

    Science.gov (United States)

    Cheng, Xiao-Hui; Tu, Chuan-Qing; Sun, Shun-Chang; Li, Jan-Yun; Zhang, Xu-Yan; Wang, Dian-Wen; Huang, Can

    2015-08-01

    To identify the mutation of ENG and ALK1 genes in a hereditary hemorrhagic telangiectasia pedigree. 14 exons of ENG gene and 9 exons of ALK1 gene in 11 menbers of this pedigree 4 generation were amplified by reverse transcription-polymerase chain reaction (RT-PCR), the PCR products were screened by direct sequencing. A nonsense mutation c.447G > A was found in exon 4 of ENG gen of the pedigreee, resulting in change of Trp 149 into Stop, while no gene mutation was found in ALK1 gene. The hereditary hemorrhagic telangiectasia in this pedigree is caused by the nonsense mutation c.447G > A in ENG gene.

  4. The diagnosis of hereditary fructose intolerance.

    Science.gov (United States)

    Steinmann, B; Gitzelmann, R

    1981-09-01

    Hereditary fructose intolerance (HFI) is a potentially life-threatening disorder and can be suspected from a detailed nutritional history. The usefulness of 2 diagnostic procedures, fructose tolerance test (FTT) and aldolase assay on biopsied liver, was studied. A standardized intravenous FTT with 200 mg/kg b.w. was done on 11 children with HFI, 17 age-matched contrast children, 6 adults with HFI and 6 adult controls. Blood glucose, phosphorus, urate, magnesium and fructose were followed for 2 hours. By the FTT, each HFI individual was reliably distinguished from controls and contrasts and even from those with acute liver disease other than HFI. Both children with non-HFI hepatopathy examined by both procedures had a normal FTT in spite of reduced liver fructaldolase activity. HFI children responded to the FTT by earlier and more pronounced hypoglycemia than adults, and one girl converted to an adult type response between the ages 12 and 181/2 years. Responses of two HFI sibling pairs and of one set of monozygotic twins were typical for age, but resemblance was no greater than within the unrelated HFI probands. The intravenous FTT is judged a reliable diagnostic tool, simple and harmless if done in hospital. Essential fructosuria is readily diagnosed by the FTT, but fructose-1,6-diphosphatase deficiency and HFI are not differentiated with certainty. Liver biopsies were obtained from 35 children with HFI, 14 contrast persons and 10 controls (of which 9 organ donors) and examined enzymatically. Deficiency of fructaldolase was observed in all HFI children but also in some contrast children suffering from acute liver disease other than HFI. In these, HFI could only be excluded when the reduced activity of reference enzymes such as fructose-1,6-diphosphatase and glucose-6-phosphatase and liver histology were included in the evaluation. In one deceased HFI infant, fructaldolase was deficient in both, liver and kidney cortex. Extent of antibody activation and of heat

  5. Deformation-induced dehydration structures in the Nankai accretionary prism

    Science.gov (United States)

    Famin, V.; Byrne, T.; Lewis, J. C.; Kanagawa, K.; Behrmann, J.; Iodp 314/315/316 Scientists, E.

    2008-12-01

    This study investigates the chemical changes caused by deformation in the hanging wall of a major, probably seismogenic thrust fault in the Kumano forearc basin, Nankai Trough. In cores from IODP Expedition 315 (site C0001), the clay sediments display numerous deformation structures including tilted beddings, decimeter scale faults and shear zones with normal or thrust offsets, and clusters of parallel curviplanar veins interpreted as earthquake-induced dewatering structures. Curviplanar veins are often observed to merge into small oblique shear zones with millimeter offsets, or to branch on larger shear zones with a ~30° angle. This suggests that some shear zones may form by the coalescence of veins. Curviplanar veins and shear zones appear darker than the surrounding clay at the macroscopic observation scale, and brighter and therefore denser under CT-scan imaging. At the micro-scale, clay has a preferred crystallographic orientation in the deformation structures and no preferred orientation outside. Electron probe micro-analysis reveals that the dark material has a higher sum of major elements (65-80 wt%), i.e. a lower volatile content (assumed to be mostly water) than the host sediment (50-60 wt%). All the major elements are equally enriched in proportion to the volatile depletion. Mass balance calculation indicates that a 20-30 wt% water loss is required to account for chemical change in the deformation microstructures. The water loss may be due to clay dehydration or to pore collapse. Shear zones are equally dehydrated as the curviplanar veins from the mass balance standpoint. In 1 m3 of sediment, a deformed volume of 1 % should produce about 6.2 L of water. Given the low permeability of the sediment, dehydration may increase the pore pressure and enhance further deformation. Deformation localization would be self-sustained by fluid overpressure, suggesting that dewatering veins may evolve into larger deformation structures after an earthquake.

  6. Mechanisms of aerobic performance impairment with heat stress and dehydration.

    Science.gov (United States)

    Cheuvront, Samuel N; Kenefick, Robert W; Montain, Scott J; Sawka, Michael N

    2010-12-01

    Environmental heat stress can challenge the limits of human cardiovascular and temperature regulation, body fluid balance, and thus aerobic performance. This minireview proposes that the cardiovascular adjustments accompanying high skin temperatures (T(sk)), alone or in combination with high core body temperatures (T(c)), provide a primary explanation for impaired aerobic exercise performance in warm-hot environments. The independent (T(sk)) and combined (T(sk) + T(c)) effects of hyperthermia reduce maximal oxygen uptake (Vo(2max)), which leads to higher relative exercise intensity and an exponential decline in aerobic performance at any given exercise workload. Greater relative exercise intensity increases cardiovascular strain, which is a prominent mediator of rated perceived exertion. As a consequence, incremental or constant-rate exercise is more difficult to sustain (earlier fatigue) or requires a slowing of self-paced exercise to achieve a similar sensation of effort. It is proposed that high T(sk) and T(c) impair aerobic performance in tandem primarily through elevated cardiovascular strain, rather than a deterioration in central nervous system (CNS) function or skeletal muscle metabolism. Evaporative sweating is the principal means of heat loss in warm-hot environments where sweat losses frequently exceed fluid intakes. When dehydration exceeds 3% of total body water (2% of body mass) then aerobic performance is consistently impaired independent and additive to heat stress. Dehydration augments hyperthermia and plasma volume reductions, which combine to accentuate cardiovascular strain and reduce Vo(2max). Importantly, the negative performance consequences of dehydration worsen as T(sk) increases.

  7. Impact of dehydration on a full body resistance exercise protocol.

    Science.gov (United States)

    Kraft, Justin A; Green, James M; Bishop, Phillip A; Richardson, Mark T; Neggers, Yasmin H; Leeper, James D

    2010-05-01

    This study examined effects of dehydration on a full body resistance exercise workout. Ten males completed two trials: heat exposed (with 100% fluid replacement) (HE) and dehydration (approximately 3% body mass loss with no fluid replacement) (DEHY) achieved via hot water bath (approximately 39 degrees C). Following HE and DEHY, participants performed three sets to failure (using predetermined 12 repetition maximum) of bench press, lat pull down, overhead press, barbell curl, triceps press, and leg press with a 2-min recovery between each set and 2 min between exercises. A paired t test showed total repetitions (all sets combined) were significantly lower for DEHY: (144.1 +/- 26.6 repetitions) versus HE: (169.4 +/- 29.1 repetitions). ANOVAs showed significantly lower repetitions (approximately 1-2 repetitions on average) per exercise for DEHY versus HE (all exercises). Pre-set rate of perceived exertion (RPE) and pre-set heart rate (HR) were significantly higher [approximately 0.6-1.1 units on average in triceps press, leg press, and approached significance in lat pull down (P = 0.14) and approximately 6-13 b min(-1) on average in bench press, lat pull down, triceps press, and approached significance for overhead press (P = 0.10)] in DEHY versus HE. Session RPE difference approached significance (DEHY: 8.6 +/- 1.9, HE: 7.4 +/- 2.3) (P = 0.12). Recovery HR was significantly higher for DEHY (116 +/- 15 b min(-1)) versus HE (105 +/- 13 b min(-1)). Dehydration (approximately 3%) impaired resistance exercise performance, decreased repetitions, increased perceived exertion, and hindered HR recovery. Results highlight the importance of adequate hydration during full body resistance exercise sessions.

  8. Comparison of three methods for natural gas dehydration

    Institute of Scientific and Technical Information of China (English)

    Michal Netusil; Pavel Ditl

    2011-01-01

    This paper compares three methods for natural gas dehydration that are widely applied in industry:(1) absorption by triethylene glycol,(2)adsorption on solid desiccants and (3) condensation.A comparison is made according to their energy demand and suitability for use.The energy calculations are performed on a model where 105 Nm3/h water saturated natural gas is processed at 30 ℃.The pressure of the gas varies from 7 to 20 MPa.The required outlet concentration of water in natural gas is equivalent to the dew point temperature of - 10 ℃ at gas pressure of 4 MPa.

  9. Ultrasound-assisted osmotic dehydration and convective drying of apples: Process kinetics and quality issues

    OpenAIRE

    Mierzwa Dominik; Kowalski Stefan J.

    2016-01-01

    The aim of the present theme issue was to study the influence of ultrasound enhancement on the kinetics of osmotic dehydration and the effect of convective drying from the point of view of drying time and quality of dried products. Apple fruit was used as the experimental material. The kinetics of osmotic dehydration with (UAOD) and without (OD) ultrasound enhancement were examined for 40% fructose and sorbitol solutions. The effective dehydration time of osmotic process was determined. Preli...

  10. Costs of sludges dehydration; Costes derivados de la deshidratacion de fangos

    Energy Technology Data Exchange (ETDEWEB)

    Bermudez, S.; Lafuente, C. [Universidad de Antonio de Nebrija (Spain); Rodriguez, M. E. [Universidad Politecnica de Madrid (Spain)

    1999-11-01

    The objective of this work has been the determination of the system of dehydration more suitable from an economical and environmental point of view. In Spain the system of dehydration more utilized is the filter strip that represents the 61%, consecutive from the centrifugal that supposes the 19%, and as the Comunities of greater production of mire dehydrated are Madrid, Cataluna and Valencia; they have been those that have defined the frame object of study. (Author) 35 refs.

  11. Topological Structures and Membrane Nanostructures of Erythrocytes after Splenectomy in Hereditary Spherocytosis Patients via Atomic Force Microscopy

    OpenAIRE

    Li, Ying; Lu, Liyuan; Li, Juan

    2016-01-01

    Hereditary spherocytosis is an inherited red blood cell membrane disorder resulting from mutations of genes encoding erythrocyte membrane and cytoskeletal proteins. Few equipments can observe the structural characteristics of hereditary spherocytosis directly expect for atomic force microscopy In our study, we proved atomic force microscopy is a powerful and sensitive instrument to describe the characteristics of hereditary spherocytosis. Erythrocytes from hereditary spherocytosis patients we...

  12. Study of glycolytic intermediates in hereditary elliptocytosis with thalassemia

    Directory of Open Access Journals (Sweden)

    Pavri Roshan

    1977-01-01

    Full Text Available Glycolytic intermediates like ATP, DPG and GSH have been studied in a family with. hereditary elliptocytosis and thalassemia. Results indicate a fall in ATP with a concomitant rise in DPG in the Patient. Findings are discussed in relation to other data.

  13. Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy.

    NARCIS (Netherlands)

    Collie, A.M.; Landsverk, M.L.; Ruzzo, E.; Mefford, H.C.; Buysse, K.; Adkins, J.R.; Knutzen, D.M.; Barnett, K.; Brown Jr., R.H.; Parry, G.J.; Yum, S.W.; Simpson, D.A.; Olney, R.K.; Chinnery, P.F.; Eichler, E.E.; Chance, P.F.; Hannibal, M.C.

    2010-01-01

    BACKGROUND: Genomic copy number variants have been shown to be responsible for multiple genetic diseases. Recently, a duplication in septin 9 (SEPT9) was shown to be causal for hereditary neuralgic amyotrophy (HNA), an episodic peripheral neuropathy with autosomal dominant inheritance. This duplicat

  14. Hereditary spherocytosis diagnosed with the eosin-5'-maleimide binding test.

    Science.gov (United States)

    Watanabe, Toru; Ono, Hiroyuki; Tajima, Iwao; Ishigaki, Hidetoshi; Hakamata, Akio; Shirai, Masami; Endoh, Akira; Hongo, Teruaki

    2014-06-01

    We describe three cases of hereditary spherocytosis (HS) diagnosed using the eosin-5'-maleimide (EMA) binding test and discuss the relevance of the EMA binding test. In Japan, this test is not widely used because the prevalence of HS is low. This test is a valuable screening test for the diagnosis of HS.

  15. Mitochondrial processes are impaired in hereditary inclusion body myopathy.

    NARCIS (Netherlands)

    Eisenberg, I.; Novershtern, N.; Itzhaki, Z.; Becker-Cohen, M.; Sadeh, M.; Willems, P.H.G.M.; Friedman, N.; Koopman, W.J.H.; Mitrani-Rosenbaum, S.

    2008-01-01

    Hereditary inclusion body myopathy (HIBM) is an adult onset, slowly progressive distal and proximal myopathy. Although the causing gene, GNE, encodes for a key enzyme in the biosynthesis of sialic acid, its primary function in HIBM remains unknown. To elucidate the pathological mechanisms leading fr

  16. Leber's hereditary optic neuropathy and vitamin B12 deficiency

    NARCIS (Netherlands)

    Pott, Jan Willem R.; Wong, Kwok H.

    2006-01-01

    Background: Leber's hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy caused by mutations in mitochondrial DNA (mtDNA). It is also believed that several epigenetic factors have an influence on the development of LHON. Methods: A case series was observed. Results: Three pa

  17. Leber's hereditary optic neuropathy: case report and literature review

    Directory of Open Access Journals (Sweden)

    Hélio Afonso Ghizoni Teive

    Full Text Available CONTEXT: Leber's hereditary optic neuropathy is an important cause of progressive painless visual loss among young male patients. OBJECTIVE: To report on a case of a young patient with a clinical and neurophysiological condition suggestive of Leber's hereditary optic neuropathy, confirmed by genetic testing. CASE REPORT: We describe a 17-year-old male with progressive bilateral visual loss. Two maternal uncles had had similar patterns of visual loss. The patient had a history of smoking and alcohol abuse. Neuro-ophthalmological examination revealed visual acuity of 20/800 in both eyes, with decreased direct and consensual pupillary light reflexes. Fundus examination demonstrated pale optic discs. The visual evoked potential test showed signs of conduction disturbances in both optic nerves and campimetric study showed complete visual loss in all fields of both eyes. A diagnosis of bilateral optic neuropathy with a clinical suspicion of Leber's hereditary optic neuropathy was made. A blood sample was submitted to genetic analysis in relation to the principal mutations of this disorder, and homoplasmic mutation in 11778 was detected, thereby confirming the diagnosis of Leber's hereditary optic neuropathy.

  18. Gene-environment interactions in Leber hereditary optic neuropathy

    NARCIS (Netherlands)

    M.A. Kirkman; P. Yu-Wai-Man (Patrick); A. Korsten (Alex); M. Leonhardt (Miriam); K. Dimitriadis (Konstantin); I.F.M. de Coo (René); T. Klopstock (Thomas); P.F. Chinnery

    2009-01-01

    textabstractLeber hereditary optic neuropathy (LHON) is a genetic disorder primarily due to mutations of mitochondrial DNA (mtDNA). Environmental factors are thought to precipitate the visual failure and explain the marked incomplete penetrance of LHON, but previous small studies have failed to conf

  19. On the many faces of Leber hereditary optic neuropathy

    NARCIS (Netherlands)

    Oostra, RJ; Tijmes, NT; Cobben, JM; Bolhuis, PA; vanNesselrooij, BPM; Houtman, WA; deKokNazaruk, MM; BleekerWagemakers, EM

    1997-01-01

    Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder, associated with mutations in the mitochondrial DNA, which is notorious for its aspecific presentations. Two pedigrees are described with cases that are atypical for LHON with respect to sex, age of onset, interval between t

  20. Hereditary Angioedema Attacks : Local Swelling at Multiple Sites

    NARCIS (Netherlands)

    Hofman, Zonne L M; Relan, Anurag; Hack, C. Erik

    2016-01-01

    Hereditary angioedema (HAE) patients experience recurrent local swelling in various parts of the body including painful swelling of the intestine and life-threatening laryngeal oedema. Most HAE literature is about attacks located in one anatomical site, though it is mentioned that HAE attacks may al

  1. On the many faces of Leber hereditary optic neuropathy

    NARCIS (Netherlands)

    Oostra, RJ; Tijmes, NT; Cobben, JM; Bolhuis, PA; vanNesselrooij, BPM; Houtman, WA; deKokNazaruk, MM; BleekerWagemakers, EM

    Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder, associated with mutations in the mitochondrial DNA, which is notorious for its aspecific presentations. Two pedigrees are described with cases that are atypical for LHON with respect to sex, age of onset, interval between

  2. Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis

    DEFF Research Database (Denmark)

    Joergensen, Maiken T; Geisz, Andrea; Brusgaard, Klaus

    2011-01-01

    In a hereditary pancreatitis family from Denmark, we identified a novel intragenic duplication of 9 nucleotides in exon-2 of the human cationic trypsinogen (PRSS1) gene (c.63_71dup) which at the amino-acid level resulted in the insertion of 3 amino acids within the activation peptide of cationic...

  3. Sulindac treatment in hereditary non-pollyposis colorectal cancer

    NARCIS (Netherlands)

    Rijcken, Fleur E. M.; Hollema, Harry; van der Zee, Ate G. J.; van der Sluis, Tineke; Ek, Wytske Boersma-van; Kleibeuker, Jan H.

    2007-01-01

    Non-steroidal anti-inflammatory drugs, e.g. sulindac have been extensively studied for chemoprevention in familial adenomatous polyposis, but not in hereditary non-polyposis colorectal cancer (HNPCC). We evaluated these effects in HNPCC using surrogate end-points for cancer risk. In a randomised dou

  4. Allelic imbalance in hereditary and sporadic prostate cancer.

    NARCIS (Netherlands)

    Verhage, B.; Houwelingen, K.P. van; Ruijter, T.E.G.; Kiemeney, L.A.L.M.; Schalken, J.A.

    2003-01-01

    BACKGROUND: In this study, we evaluate the pattern of allelic imbalance (AI) in both sporadic prostate cancer (SPC) and hereditary prostate cancer (HPC) at loci that frequently show allelic imbalance in sporadic prostate cancer, or are believed to have a putative role in the disease. METHODS: DNA ob

  5. Longitudinal Cerebral Blood Flow Changes during Speech in Hereditary Ataxia

    Science.gov (United States)

    Sidtis, John J.; Strother, Stephen C.; Naoum, Ansam; Rottenberg, David A.; Gomez, Christopher

    2010-01-01

    The hereditary ataxias constitute a group of degenerative diseases that progress over years or decades. With principal pathology involving the cerebellum, dysarthria is an early feature of many of the ataxias. Positron emission tomography was used to study regional cerebral blood flow changes during speech production over a 21 month period in a…

  6. Keratinocytes modify fibroblast metabolism in hereditary gingival fibromatosis.

    NARCIS (Netherlands)

    Meng, L.; Ye, X.; Fan, M.; Xiong, X.; Hoff, J.W. Von den; Bian, Z.

    2008-01-01

    OBJECTIVES: Hereditary gingival fibromatosis (HGF) is a rare benign disorder characterized by progressive fibrous overgrowth of the gingiva. The proliferation and expression of growth factors of HGF keratinocytes are abnormal. However, the exact role of keratinocytes in HGF pathogenesis is still unk

  7. The Almost Split Sequences for Trivial Extensions of Hereditary Algebras

    Institute of Scientific and Technical Information of China (English)

    Zhang Yu-lin; Yao Hai-lou

    2014-01-01

    Let A be a basic hereditary artin algebra and R=AnQ be the trivial extension of A by its minimal injective cogenerator Q. We construct some right (left) almost split morphisms and irreducible morphisms in modR through the correspond-ing morphisms in modA. Furthermore, we can determine its almost split sequences in modR.

  8. Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'

    DEFF Research Database (Denmark)

    Svenstrup, Kirsten; Giraud, Geneviève; Boespflug-Tanguy, Odile

    2010-01-01

    BACKGROUND: Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders characterised by progressive spasticity and weakness in the lower limbs. Mutations in PLP1 on the X chromosome cause spastic paraplegia type 2 (SPG2) or the allelic...

  9. Prognostic Factors for Distress After Genetic Testing for Hereditary Cancer

    NARCIS (Netherlands)

    Voorwinden, Jan S; Jaspers, Jan P C

    2015-01-01

    The psychological impact of an unfavorable genetic test result for counselees at risk for hereditary cancer seems to be limited: only 10-20 % of counselees have psychological problems after testing positive for a known familial mutation. The objective of this study was to find prognostic factors tha

  10. Visual Rehabilitation of Persons with Leber's Hereditary Optic Neuropathy.

    Science.gov (United States)

    Rudanko, S.-L.

    1995-01-01

    This article presents results of a noncontrolled clinical study of 20 persons with Leber's hereditary optic neuropathy who were treated from 1976 to 1990 at the Low Vision Centre of the Finnish Federation of the Visually Handicapped. The importance of early functional visual rehabilitation is emphasized, as is the use of low vision aids to help…

  11. Hereditary fructose intolerance and alpha(1) antitrypsin deficiency.

    Science.gov (United States)

    Hillebrand, G; Schneppenheim, R; Oldigs, H D; Santer, R

    2000-07-01

    A patient with coexisting hereditary fructose intolerance (HFI) and alpha(1) antitrypsin deficiency (alpha(1)ATD) is described. Protease inhibitor typing was not conclusive, presumably because of impaired N-glycosylation secondary to HFI. The case underlines the diagnostic role of molecular genetic techniques in inborn errors of metabolism.

  12. Leber's hereditary optic neuropathy and vitamin B12 deficiency

    NARCIS (Netherlands)

    Pott, Jan Willem R.; Wong, Kwok H.

    2006-01-01

    Background: Leber's hereditary optic neuropathy (LHON) is a maternally inherited optic neuropathy caused by mutations in mitochondrial DNA (mtDNA). It is also believed that several epigenetic factors have an influence on the development of LHON. Methods: A case series was observed. Results: Three

  13. Hereditary orotic aciduria with epilepsy and without megaloblastic anemia.

    Science.gov (United States)

    Grohmann, Karina; Lauffer, Heinz; Lauenstein, Peter; Hoffmann, Georg F; Seidlitz, Günter

    2015-04-01

    Hereditary orotic aciduria is a rare metabolic disease that results from a defect of uridine-5-monophosphate synthase (UMPS). In affected patients, main clinical symptoms are a markedly increased urinary excretion of orotic acid combined with megaloblastic anemia. This report describes a new case of UMPS deficiency without megaloblastic anemia but with epilepsy. Georg Thieme Verlag KG Stuttgart · New York.

  14. Systemic treatment for hereditary cancers: a 2012 update.

    Science.gov (United States)

    Imyanitov, Evgeny N; Byrski, Tomasz

    2013-04-01

    The history of specific therapy for hereditary tumors dates back to mid 1980s and involves a number of reports demonstrating regression of familial colon polyps upon administration of sulindac. Virtually no clinical studies on other hereditary cancer types were available until the year 2009, when Byrski et al. presented the data on unprecedented sensitivity of BRCA1-associated breast malignancies to cisplatin. This breakthrough has revived interest to the treatment of cancer in germ-line mutation carriers. Recent trials and clinical observations have confirmed the efficacy of platinating agents and PARP inhibitors in BRCA1/2-driven breast, ovarian and pancreatic carcinomas. Pegylated liposomal doxorubicin may be considered as a promising treatment option for BRCA1/2-related ovarian cancer after the failure of platinum-containing therapy. Several novel drugs have been recently introduced in the management of rare familial tumor syndromes. Vandetanib, a low-molecular weight RET kinase inhibitor, demonstrated substantial efficacy in the treatment of hereditary and sporadic medullary thyroid cancer. Vismodegib, an inhibitor of SMO oncoprotein, caused regression of basal-cell carcinomas in patients with Gorlin syndrome. Down-regulation of mTOR kinase by everolimus has been successfully used for the therapy of subependymal giant-cell astrocytomas in patients with tuberous sclerosis. The achievements in the prevention, diagnostics and treatment of hereditary cancers may serve as an excellent example of triumph of translational medicine.

  15. Prognostic Factors for Distress After Genetic Testing for Hereditary Cancer

    NARCIS (Netherlands)

    Voorwinden, Jan S.; Jaspers, Jan P C

    2016-01-01

    The psychological impact of an unfavorable genetic test result for counselees at risk for hereditary cancer seems to be limited: only 10-20 % of counselees have psychological problems after testing positive for a known familial mutation. The objective of this study was to find prognostic factors tha

  16. Longitudinal Cerebral Blood Flow Changes during Speech in Hereditary Ataxia

    Science.gov (United States)

    Sidtis, John J.; Strother, Stephen C.; Naoum, Ansam; Rottenberg, David A.; Gomez, Christopher

    2010-01-01

    The hereditary ataxias constitute a group of degenerative diseases that progress over years or decades. With principal pathology involving the cerebellum, dysarthria is an early feature of many of the ataxias. Positron emission tomography was used to study regional cerebral blood flow changes during speech production over a 21 month period in a…

  17. Motor activation in SPG4-linked hereditary spastic paraplegia

    DEFF Research Database (Denmark)

    Scheuer, KH; Nielsen, JE; Krabbe, Katja

    2006-01-01

    OBJECTIVE: The aim of this study was to investigate the extent of motor cortical functional reorganisation in patients with SPG4-linked hereditary spastic paraplegia by exploring cortical motor activation related to movements of clinically affected (lower) and unaffected (upper) limbs. METHODS...

  18. Hereditary Ovarian Cancer: Not Only BRCA 1 and 2 Genes

    Directory of Open Access Journals (Sweden)

    Angela Toss

    2015-01-01

    Full Text Available More than one-fifth of ovarian tumors have hereditary susceptibility and, in about 65–85% of these cases, the genetic abnormality is a germline mutation in BRCA genes. Nevertheless, several other suppressor genes and oncogenes have been associated with hereditary ovarian cancers, including the mismatch repair (MMR genes in Lynch syndrome, the tumor suppressor gene, TP53, in the Li-Fraumeni syndrome, and several other genes involved in the double-strand breaks repair system, such as CHEK2, RAD51, BRIP1, and PALB2. The study of genetic discriminators and deregulated pathways involved in hereditary ovarian syndromes is relevant for the future development of molecular diagnostic strategies and targeted therapeutic approaches. The recent development and implementation of next-generation sequencing technologies have provided the opportunity to simultaneously analyze multiple cancer susceptibility genes, reduce the delay and costs, and optimize the molecular diagnosis of hereditary tumors. Particularly, the identification of mutations in ovarian cancer susceptibility genes in healthy women may result in a more personalized cancer risk management with tailored clinical and radiological surveillance, chemopreventive approaches, and/or prophylactic surgeries. On the other hand, for ovarian cancer patients, the identification of mutations may provide potential targets for biologic agents and guide treatment decision-making.

  19. Gastrointestinal bleeding in patients with hereditary hemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Kjeldsen, J

    2000-01-01

    Gastrointestinal bleeding occurs in a number of patients with hereditary hemorrhagic telangiectasia (HHT) and may lead to a high transfusion need. The aim of this study was to estimate the occurrence and severity of gastrointestinal bleeding in a geographically well defined HHT population....

  20. Treatment for dysphagia (swallowing difficulties) in hereditary ataxia.

    Science.gov (United States)

    Vogel, Adam P; Keage, Megan J; Johansson, Kerstin; Schalling, Ellika

    2015-11-13

    Hereditary ataxias are a heterogeneous group of disorders resulting in progressive inco-ordination. Swallowing impairment, also known as dysphagia, is a common and potentially life threatening sequel of disease progression. The incidence and nature of dysphagia in these conditions is largely unknown. The loss of an effective and safe swallow can dramatically affect the health and well-being of an individual. Remediation of difficulties of eating and drinking is an important goal in the clinical care of people with hereditary ataxia. To assess the effects of interventions for swallowing impairment (dysphagia) in people with hereditary ataxias. We searched the Cochrane Neuromuscular Disease Group Specialized Register, the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, EMBASE, CINAHL Plus, PsycINFO, and the Education Resources Information Center (ERIC) on 14 September 2015. We also searched Linguistics and Language Behavior Abstracts (LLBA), Dissertation Abstracts, and Trials Registries on 24 September 2015. We considered all randomised controlled trials (RCTs) and quasi-RCTs that compared treatments for hereditary ataxia with placebo or no treatment. We only included studies measuring dysphagia. Three review authors (ES, KJ, MK) independently screened all titles and abstracts. In the event of any disagreement or uncertainty over the inclusion of a particular paper, the review authors planned to meet and reach consensus. We identified no RCTs from the 519 titles and abstracts screened. We excluded papers primarily for not including participants with a hereditary ataxia (that is, being focused on other neurological conditions), being theoretical reviews rather than intervention studies, or being neither randomised nor quasi-randomised trials.We identified five papers of various design that described treatment for dysphagia, or improvement to swallow as a by-product of treatment, in people with hereditary ataxia. None of these studies were RCTs or

  1. Process for dehydration of oregano using propane gas as fuel

    Directory of Open Access Journals (Sweden)

    Carlos O. Velásquez-Santos

    2014-08-01

    Full Text Available The article describes two important issues, the first is the process to design, implement and validate a mechanical dryer of oregano, using propane gas as fuel, and the second is the cost of the process of dehydrated, taking into account the cost of electric energy consumption by the fan and the cost of propane gas consumption by the heat exchanger. To achieve this, it was necessary review the state of the art and the study of the raw material (oregano, were established as premises of design the necessary technical specifications and the variables involved in the process, using conceptual methods and simulation to ensure that it complies with the ISO standard 7925:1999, which defines the requirements for the marketing of dried oregano and processed. Emphasis was made on the percentage of moisture that is 10%, the moisture of the product was found by the azeotropic distillation method, subsequently was validated the functionality and efficiency, comparing the results from an experimental design, then it was obtained the drying curve of oregano with the prototype of drying and it was checked if it meets ISO 7925:1999 standard and the NTC 4423 standard in order to obtain a final product dehydrated with the percentage of humidity appropriate.

  2. Catalytic Ethanol Dehydration over Different Acid-activated Montmorillonite Clays.

    Science.gov (United States)

    Krutpijit, Chadaporn; Jongsomjit, Bunjerd

    2016-01-01

    In the present study, the catalytic dehydration of ethanol to obtain ethylene over montmorillonite clays (MMT) with mineral acid activation including H2SO4 (SA-MMT), HCl (HA-MMT) and HNO3 (NA-MMT) was investigated at temperature range of 200 to 400°C. It revealed that HA-MMT exhibited the highest catalytic activity. Ethanol conversion and ethylene selectivity were found to increase with increased reaction temperature. At 400°C, the HA-MMT yielded 82% of ethanol conversion having 78% of ethylene yield. At lower temperature (i.e. 200 to 300°C), diethyl ether (DEE) was a major product. The highest activity obtained from HA-MMT can be attributed to an increase of weak acid sites and acid density by the activation of MMT with HCl. It can be also proven by various characterization techniques that in most case, the main structure of MMT did not alter by acid activation (excepted for NA-MMT). Upon the stability test for 72 h during the reaction, the MMT and HA-MMT showed only slight deactivation due to carbon deposition. Hence, the acid activation of MMT by HCl is promising to enhance the catalytic dehydration of ethanol.

  3. Rationalization of Sucrose Solution Using During the Fruit Osmotic Dehydration

    Directory of Open Access Journals (Sweden)

    Mirko Babić

    2009-12-01

    Full Text Available The model of sustainable energy production of dried fruit conducted by using combined technology – the model that has been developed at the Faculty of Agriculture in Novi Sad – includes osmotic dehydration of fruit in sucrose solution. During the process of dehydration the moisture content of the solution is increased due to mass transfer of moisture from fruit. This article examines different models of recycling and concentrating of the solution. Thus, the model for concentrating of the solution has been chosen according to this analysis, and it has been applied within its own technology. Evaporators of the low temperature solution have been used and they are based on the solar energy source. Two types of devices have been made on the basis of the heating process of evaporating. One type is filled with the stainless steel shavings, while the other type is based on the fillings by plates. The paper presents the evaluation model of the benefits of this concentrating manner as well as the evaluation criterion of the evaporators’ fillings types. The energy support used here was an original solar air heater of semi-concentrated type.

  4. Structural and functional insights into asymmetric enzymatic dehydration of alkenols.

    Science.gov (United States)

    Nestl, Bettina M; Geinitz, Christopher; Popa, Stephanie; Rizek, Sari; Haselbeck, Robert J; Stephen, Rosary; Noble, Michael A; Fischer, Max-Philipp; Ralph, Erik C; Hau, Hoi Ting; Man, Henry; Omar, Muhiadin; Turkenburg, Johan P; van Dien, Stephen; Culler, Stephanie J; Grogan, Gideon; Hauer, Bernhard

    2017-03-01

    The asymmetric dehydration of alcohols is an important process for the direct synthesis of alkenes. We report the structure and substrate specificity of the bifunctional linalool dehydratase isomerase (LinD) from the bacterium Castellaniella defragrans that catalyzes in nature the hydration of β-myrcene to linalool and the subsequent isomerization to geraniol. Enzymatic kinetic resolutions of truncated and elongated aromatic and aliphatic tertiary alcohols (C5-C15) that contain a specific signature motif demonstrate the broad substrate specificity of LinD. The three-dimensional structure of LinD from Castellaniella defragrans revealed a pentamer with active sites at the protomer interfaces. Furthermore, the structure of LinD in complex with the product geraniol provides initial mechanistic insights into this bifunctional enzyme. Site-directed mutagenesis confirmed active site amino acid residues essential for its dehydration and isomerization activity. These structural and mechanistic insights facilitate the development of hydrating catalysts, enriching the toolbox for novel bond-forming biocatalysis.

  5. Twin formation in hematite during dehydration of goethite

    Science.gov (United States)

    Saito, Genki; Kunisada, Yuji; Nomura, Takahiro; Sakaguchi, Norihito; Akiyama, Tomohiro

    2016-11-01

    Twin formation in hematite during dehydration was investigated using X-ray diffraction, electron diffraction, and high-resolution transmission electron microscopy (TEM). When synthetic goethite was heated at different temperatures between 100 and 800 °C, a phase transformation occurred at temperatures above 250 °C. The electron diffraction patterns showed that the single-crystalline goethite with a growth direction of [001]G was transformed into hematite with a growth direction of [100]H. Two non-equivalent structures emerged in hematite after dehydration, with twin boundaries at the interface between the two variants. As the temperature was increased, crystal growth occurred. At 800 °C, the majority of the twin boundaries disappeared; however, some hematite particles remained in the twinned variant. The electron diffraction patterns and high-resolution TEM observations indicated that the twin boundaries consisted of crystallographically equivalent prismatic (100) (010), and (1bar{1}0) planes. According to the total energy calculations based on spin-polarized density functional theory, the twin boundary of prismatic (100) screw had small interfacial energy (0.24 J/m2). Owing to this low interfacial energy, the prismatic (100) screw interface remained after higher-temperature treatment at 800 °C.

  6. Process variables in the osmotic dehydration of sliced peaches

    Directory of Open Access Journals (Sweden)

    Sílvia Pimentel Marconi Germer

    2010-12-01

    Full Text Available This paper evaluated the influence of temperature and concentration of the sucrose syrup on the pre-osmotic dehydration of peaches. Physical (colour and texture and chemical variables (soluble solid content; total sugar, reducing and non-reducing sugar contents; and titratable acidity were investigated, as well as the osmotic dehydration parameters (loss of weight and water; solids incorporation. An experimental central composite design was employed varying the temperature (from 30 to 50 ºC and concentration (from 45 to 65 ºBrix and maintaining the syrup to fruit ratio (4:1, process time (4 hours, and format (slices. The degree of acceptance was used in the sensory analysis evaluating the following characteristics: appearance, taste, texture, colour, and overall quality using a hedonic scale. The results were modelled using the Statistica program (v. 6.0 and the Response Surface Methodology. The mathematical models of the following dimensionless variations yielded significant (p < 0.05 and predictive results: soluble solids content, total and non-reducing sugar contents, titratable acidity, colour parameter L*, and water loss. The models of the attributes colour and appearance yielded significant (p < 0.10 but not predictive results. Temperature was the prevalent effect in the models. The process conditions in the range from 50 to 54.1 ºC and from 45 to 65 ºBrix led to greater water losses and better sensory performances.

  7. Crystal structures of phosphoketolase: thiamine diphosphate-dependent dehydration mechanism.

    Science.gov (United States)

    Suzuki, Ryuichiro; Katayama, Takane; Kim, Byung-Jun; Wakagi, Takayoshi; Shoun, Hirofumi; Ashida, Hisashi; Yamamoto, Kenji; Fushinobu, Shinya

    2010-10-29

    Thiamine diphosphate (ThDP)-dependent enzymes are ubiquitously present in all organisms and catalyze essential reactions in various metabolic pathways. ThDP-dependent phosphoketolase plays key roles in the central metabolism of heterofermentative bacteria and in the pentose catabolism of various microbes. In particular, bifidobacteria, representatives of beneficial commensal bacteria, have an effective glycolytic pathway called bifid shunt in which 2.5 mol of ATP are produced per glucose. Phosphoketolase catalyzes two steps in the bifid shunt because of its dual-substrate specificity; they are phosphorolytic cleavage of fructose 6-phosphate or xylulose 5-phosphate to produce aldose phosphate, acetyl phosphate, and H(2)O. The phosphoketolase reaction is different from other well studied ThDP-dependent enzymes because it involves a dehydration step. Although phosphoketolase was discovered more than 50 years ago, its three-dimensional structure remains unclear. In this study we report the crystal structures of xylulose 5-phosphate/fructose 6-phosphate phosphoketolase from Bifidobacterium breve. The structures of the two intermediates before and after dehydration (α,β-dihydroxyethyl ThDP and 2-acetyl-ThDP) and complex with inorganic phosphate give an insight into the mechanism of each step of the enzymatic reaction.

  8. A process and assembly for desalinating and dehydrating crude oils

    Energy Technology Data Exchange (ETDEWEB)

    Popp, V.V.; Fotescu, L.; Mihalache, I.; Neagu, R.; Suditu, I.N.; Tirboiu, D.

    1981-08-05

    A process is patented for desalinating and dehydrating crude oils by washing them with hot water (the assembly contains a demulsifier) for several stages depending on the salt content and a free water separating stage, after which an optimum dose of demulsifier is injected into the oil; the oil is heated up and injected into a settling tank where a coalescent layer if formed (depending on the type of oil). Coalescence can be conducted in the heat exchanger which is located before the settling tank and from which the hot water recirculates for washing. The treated oil, which may contain water and volatile components, can be injected into the stripper in a heated or unheated state. In the stripper, the oil makes contact with heated gas in a counterflow, which extracts the steam and the volatile hydrocarbons. The dehydrated oil is removed from the bottom of the stripper; steam and hydrocarbons move to the top of the stripper where they condense. The hydrocarbons are passed on for further use. The corresponding device which operates in the described manner is also patented.

  9. Application of Geotextile Bag Dehydrated Soil to Dike Construction

    Institute of Scientific and Technical Information of China (English)

    朱平; 闫澍旺; 刘润

    2004-01-01

    Using geotextile bag dehydrated soil to construct dikes for land reclamation to substitute conventional straw bags is an urgent need in Tianjin New Harbor, China. This paper introduces the method to build a dike for hydraulic filling. The soil for filling the geotextile bags was tested in wave trench; the stress developed during construction was calculated by establishing a numerical model and compared with the tensile strength of the geotextile; the stability and settlement of the dike were estimated by performing centrifuge tests. Through this study, the following information was obtained: 1) The cohesionless silt with plasticity index less than 10 is suitable for filling the geotextile bags. The geotextile bag dehydrated soil consolidated very quickly even under the action of wave force. 2) A numerical model was devised to find the limit injection height and to calculate the tensile stress developed in the geotextile bags when they were piled up to form the dike. The calculated stress was compared with the strength of the geotextile, showing that the design is reasonably safe. 3) Centrifuge test results show that the designed dike will be stable and the settlement of dike will be less than the design requirement.

  10. Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Giordano, Carla; Montopoli, Monica; Perli, Elena; Orlandi, Maurizia; Fantin, Marianna; Ross-Cisneros, Fred N; Caparrotta, Laura; Martinuzzi, Andrea; Ragazzi, Eugenio; Ghelli, Anna; Sadun, Alfredo A; d'Amati, Giulia; Carelli, Valerio

    2011-01-01

    Leber's hereditary optic neuropathy, the most frequent mitochondrial disease due to mitochondrial DNA point mutations in complex I, is characterized by the selective degeneration of retinal ganglion cells, leading to optic atrophy and loss of central vision prevalently in young males. The current study investigated the reasons for the higher prevalence of Leber's hereditary optic neuropathy in males, exploring the potential compensatory effects of oestrogens on mutant cell metabolism. Control and Leber's hereditary optic neuropathy osteosarcoma-derived cybrids (11778/ND4, 3460/ND1 and 14484/ND6) were grown in glucose or glucose-free, galactose-supplemented medium. After having shown the nuclear and mitochondrial localization of oestrogen receptors in cybrids, experiments were carried out by adding 100 nM of 17β-oestradiol. In a set of experiments, cells were pre-incubated with the oestrogen receptor antagonist ICI 182780. Leber's hereditary optic neuropathy cybrids in galactose medium presented overproduction of reactive oxygen species, which led to decrease in mitochondrial membrane potential, increased apoptotic rate, loss of cell viability and hyper-fragmented mitochondrial morphology compared with control cybrids. Treatment with 17β-oestradiol significantly rescued these pathological features and led to the activation of the antioxidant enzyme superoxide dismutase 2. In addition, 17β-oestradiol induced a general activation of mitochondrial biogenesis and a small although significant improvement in energetic competence. All these effects were oestrogen receptor mediated. Finally, we showed that the oestrogen receptor β localizes to the mitochondrial network of human retinal ganglion cells. Our results strongly support a metabolic basis for the unexplained male prevalence in Leber's hereditary optic neuropathy and hold promises for a therapeutic use for oestrogen-like molecules.

  11. Red blood cell vesiculation in hereditary hemolytic anemia

    Science.gov (United States)

    Alaarg, Amr; Schiffelers, Raymond M.; van Solinge, Wouter W.; van Wijk, Richard

    2013-01-01

    Hereditary hemolytic anemia encompasses a heterogeneous group of anemias characterized by decreased red blood cell survival because of inherited membrane, enzyme, or hemoglobin disorders. Affected red blood cells are more fragile, less deformable, and more susceptible to shear stress and oxidative damage, and show increased vesiculation. Red blood cells, as essentially all cells, constitutively release phospholipid extracellular vesicles in vivo and in vitro in a process known as vesiculation. These extracellular vesicles comprise a heterogeneous group of vesicles of different sizes and intracellular origins. They are described in literature as exosomes if they originate from multi-vesicular bodies, or as microvesicles when formed by a one-step budding process directly from the plasma membrane. Extracellular vesicles contain a multitude of bioactive molecules that are implicated in intercellular communication and in different biological and pathophysiological processes. Mature red blood cells release in principle only microvesicles. In hereditary hemolytic anemias, the underlying molecular defect affects and determines red blood cell vesiculation, resulting in shedding microvesicles of different compositions and concentrations. Despite extensive research into red blood cell biochemistry and physiology, little is known about red cell deformability and vesiculation in hereditary hemolytic anemias, and the associated pathophysiological role is incompletely assessed. In this review, we discuss recent progress in understanding extracellular vesicles biology, with focus on red blood cell vesiculation. Also, we review recent scientific findings on the molecular defects of hereditary hemolytic anemias, and their correlation with red blood cell deformability and vesiculation. Integrating bio-analytical findings on abnormalities of red blood cells and their microvesicles will be critical for a better understanding of the pathophysiology of hereditary hemolytic anemias. PMID

  12. Red blood cell vesiculation in hereditary hemolytic anemia

    Directory of Open Access Journals (Sweden)

    Amr eAlaarg

    2013-12-01

    Full Text Available Hereditary hemolytic anemia encompasses a heterogeneous group of anemias characterised by decreased red blood cell survival because of inherited membrane, enzyme, or hemoglobin disorders. Affected red blood cells are more fragile, less deformable, and more susceptible to shear stress and oxidative damage, and show increased vesiculation. Red blood cells, as essentially all cells, constitutively release phospholipid extracellular vesicles in vivo and in vitro in a process known as vesiculation. These extracellular vesicles comprise a heterogeneous group of vesicles of different sizes and intracellular origins. They are described in literature as exosomes if they originate from multi-vesicular bodies, or as microvesicles when formed by a one-step budding process directly from the plasma membrane. Extracellular vesicles contain a multitude of bioactive molecules that are implicated in intercellular communication and in different biological and pathophysiological processes. Mature red blood cells release in principle only microvesicles. In hereditary hemolytic anemias, the underlying molecular defect affects and determines red blood cell vesiculation, resulting in shedding microvesicles of different compositions and concentrations. Despite extensive research into red blood cell biochemistry and physiology, little is known about red cell deformability and vesiculation in hereditary hemolytic anemias, and the associated pathophysiological role is incompletely asessed. In this review, we discuss recent progress in understanding extracellular vesicles biology, with focus on red blood cell vesiculation. Also, we review recent scientific findings on the molecular defects of hereditary hemolytic anemias, and their correlation with red blood cell deformability and vesiculation. Integrating bio-analytical findings on abnormalities of red blood cells and their microvesicles will be critical for a better understanding of the pathophysiology of hereditary

  13. Red blood cell vesiculation in hereditary hemolytic anemia.

    Science.gov (United States)

    Alaarg, Amr; Schiffelers, Raymond M; van Solinge, Wouter W; van Wijk, Richard

    2013-12-13

    Hereditary hemolytic anemia encompasses a heterogeneous group of anemias characterized by decreased red blood cell survival because of inherited membrane, enzyme, or hemoglobin disorders. Affected red blood cells are more fragile, less deformable, and more susceptible to shear stress and oxidative damage, and show increased vesiculation. Red blood cells, as essentially all cells, constitutively release phospholipid extracellular vesicles in vivo and in vitro in a process known as vesiculation. These extracellular vesicles comprise a heterogeneous group of vesicles of different sizes and intracellular origins. They are described in literature as exosomes if they originate from multi-vesicular bodies, or as microvesicles when formed by a one-step budding process directly from the plasma membrane. Extracellular vesicles contain a multitude of bioactive molecules that are implicated in intercellular communication and in different biological and pathophysiological processes. Mature red blood cells release in principle only microvesicles. In hereditary hemolytic anemias, the underlying molecular defect affects and determines red blood cell vesiculation, resulting in shedding microvesicles of different compositions and concentrations. Despite extensive research into red blood cell biochemistry and physiology, little is known about red cell deformability and vesiculation in hereditary hemolytic anemias, and the associated pathophysiological role is incompletely assessed. In this review, we discuss recent progress in understanding extracellular vesicles biology, with focus on red blood cell vesiculation. Also, we review recent scientific findings on the molecular defects of hereditary hemolytic anemias, and their correlation with red blood cell deformability and vesiculation. Integrating bio-analytical findings on abnormalities of red blood cells and their microvesicles will be critical for a better understanding of the pathophysiology of hereditary hemolytic anemias.

  14. Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.

    Science.gov (United States)

    Chance, Phillip F

    2006-01-01

    Hereditary neuropathy with liability to pressure palsies (HNPP; also called tomaculous neuropathy) is an autosomal-dominant disorder that produces a painless episodic, recurrent, focal demyelinating neuropathy. HNPP generally develops during adolescence, and may cause attacks of numbness, muscular weakness, and atrophy. Peroneal palsies, carpal tunnel syndrome, and other entrapment neuropathies may be frequent manifestations of HNPP. Motor and sensory nerve conduction velocities may be reduced in clinically affected patients, as well as in asymptomatic gene carriers. The histopathological changes observed in peripheral nerves of HNPP patients include segmental demyelination and tomaculous or "sausage-like" formations. Mild overlap of clinical features with Charcot-Marie-Tooth (CMT) disease type 1 (CMT1) may lead patients with HNPP to be misdiagnosed as having CMT1. HNPP and CMT1 are both demyelinating neuropathies, however, their clinical, pathological, and electrophysiological features are quite distinct. HNPP is most frequently associated with a 1.4-Mb pair deletion on chromosome 17p12. A duplication of the identical region leads to CMT1A. Both HNPP and CMT1A result from a dosage effect of the PMP22 gene, which is contained within the deleted/duplicated region. This is reflected in reduced mRNA and protein levels in sural nerve biopsy samples from HNPP patients. Treatment for HNPP consists of preventative and symptom-easing measures. Hereditary neuralgic amyotrophy (HNA; also called familial brachial plexus neuropathy) is an autosomal-dominant disorder causing episodes of paralysis and muscle weakness initiated by severe pain. Individuals with HNA may suffer repeated episodes of intense pain, paralysis, and sensory disturbances in an affected limb. The onset of HNA is at birth or later in childhood with prognosis for recovery usually favorable; however, persons with HNA may have permanent residual neurological dysfunction following attack(s). Episodes are often

  15. Intraocular pressure following 18 hours of systemic dehydration in ocular normotensive healthy subjects

    Directory of Open Access Journals (Sweden)

    Faustina K. Idu

    2015-03-01

    Full Text Available Aim: To investigate the effect of dehydration on intraocular pressure (IOP. Subjects: The study population comprised 50 subjects (27 men and 23 women with a mean age of 42.84 ± 2.64 years.Method: The subjects dehydrated for 18 hours. IOP was assessed in both eyes using the Perkins handheld applanation tonometer. Baseline measurement of IOP was taken before the subjects dehydrated for 18 hours and repeated after dehydration. Blood samples were taken before and after dehydration for the determination of plasma osmolality and plasma antidiuretic hormone (ADH concentrations.Results: A statistically significant (p < 0.001 reduction in the mean weight of subjects occurred after dehydration. There was a significant reduction in IOP from 16.68 mmHg ± 0.32 mmHg to 13.08 mmHg ± 0.31 mmHg after dehydration (p < 0.001. Mean plasma osmolality showed a statistically significant increase (p < 0.05 from baseline of 290.02 mOsmol/kg ± 1.25 mOsmol/kg to 294.96 mOsmol/kg ± 1.33 mOsmol/kg after dehydration. There was also a significant increase (p < 0.05 in mean plasma ADH concentration from 5.36 pg/mL ± 0.21 pg/mL to 6.40 pg/mL ± 0.20 pg/mL after dehydration. There were no significant differences in both systolic and diastolic blood pressures before and after dehydration.Conclusion: Dehydration decreases IOP in healthy humans; this decrease probably results from an increase in plasma osmolality and plasma ADH concentrations.

  16. Role of detection of microsatellite instability in Chinese with hereditary nonpolyposis colorectal cancer or ordinary hereditary colorectal cancer

    Institute of Scientific and Technical Information of China (English)

    Wen-Zhi Liu; Feng Jin; Zhen-Hai Zhang; Shu-Bao Wang

    2006-01-01

    AIM: To detect microsatellite instability (MSI) in patients with hereditary nonpolyposis colorectal cancer or ordinary hereditary colorectal cancer and to provide criteria for screening the kindreds with hereditary nonpolyposis colorectal cancer at molecular level.METHODS: MSI was detected in the specimens from 20 cases with HNPCC, 20 cases with ordinary hereditary colorectal cancer and 20 cases with sporadic colorectal cancer by means of polymerase chain reaction-single strand conformation polymorphism.RESULTS: The positive rate of MSI was 85% (17/20) in HNPCC group, 40% (8/20) in ordinary hereditary colorectal cancer group and 10% (2/20) in the sporadic colorectal cancer group respectively. The differences were significant. The mean ages of the three groups were 43.6, 52.2, and 61.8 years respectively, which increased gradually. The incidence of right hemicolon cancer was 64.7%, 37.5%, and 0% respectively, which decreased gradually and had significant difference. The expression ratio of BAT26 and BAT25 was 94.1% respectively, which was highest in the 5 gene sites studied. The incidence of poorly differentiated adenocarcinoma was 70.6% in HNPCC group among high frequency microsatellite instability (MSI-H), which was higher than the other two groups, which had 50% and 50% respectively.CONCLUSION: The incidence of MSI-H is higher in HNPCC group. The detection of MSI is simple and economical and has high correlation with the clinicopathologic feature of HNPCC and can be used as a screening method to detect the germ line mutation of the mismatch repair gene.

  17. New treatments addressing the pathophysiology of hereditary angioedema

    Directory of Open Access Journals (Sweden)

    Davis Alvin E

    2008-04-01

    Full Text Available Abstract Hereditary angioedema is a serious medical condition caused by a deficiency of C1-inhibitor. The condition is the result of a defect in the gene controlling the synthesis of C1-inhibitor, which regulates the activity of a number of plasma cascade systems. Although the prevalence of hereditary angioedema is low – between 1:10,000 to 1:50,000 – the condition can result in considerable pain, debilitation, reduced quality of life, and even death in those afflicted. Hereditary angioedema presents clinically as cutaneous swelling of the extremities, face, genitals, and trunk, or painful swelling of the gastrointestinal mucosa. Angioedema of the upper airways is extremely serious and has resulted in death by asphyxiation. Subnormal levels of C1-inhibitor are associated with the inappropriate activation of a number of pathways – including, in particular, the complement and contact systems, and to some extent, the fibrinolysis and coagulation systems. Current findings indicate bradykinin, a product of contact system activation, as the primary mediator of angioedema in patients with C1-inhibitor deficiency. However, other systems may play a role in bradykinin's rapid and excessive generation by depleting available levels of C1-inhibitor. There are currently no effective therapies in the United States to treat acute attacks of hereditary angioedema, and currently available agents used to treat hereditary angioedema prophylactically are suboptimal. Five new agents are, however, in Phase III development. Three of these agents replace C1-inhibitor, directly addressing the underlying cause of hereditary angioedema and re-establishing regulatory control of all pathways and proteases involved in its pathogenesis. These agents include a nano-filtered C1-inhibitor replacement therapy, a pasteurized C1-inhibitor, and a recombinant C1-inhibitor isolated from the milk of transgenic rabbits. All C1-inhibitors are being investigated for acute angioedema

  18. Preventing and treating dehydration in the elderly during periods of illness and warm weather.

    NARCIS (Netherlands)

    Schols, J.M.; Groot, C.P.G.M. de; Cammen, T.J.M. van der; Olde Rikkert, M.G.M.

    2009-01-01

    OBJECTIVE: Translate the available knowledge on ageing and dehydration into main messages for clinical practice. MAIN POINTS: Older people are more susceptible to dehydration than younger people. This is partly due to lack of thirst sensation and changes in the water and sodium balance that

  19. Preventing and treating dehydration in the elderly during periods of illness and warm weather

    NARCIS (Netherlands)

    Schols, J.M.G.A.; Groot, de C.P.G.M.; Cammen, van der T.J.M.; Olde Rikkert, M.G.M.

    2009-01-01

    Objective: Translate the available knowledge on ageing and dehydration into main messages for clinical practice. Main points: Older people are more susceptible to dehydration than younger people. This is partly due to lack of thirst sensation and changes in the water and sodium balance that

  20. Simultaneous Infrared Dry-Blanching and Dehydration of apple slices Controlled by Intermittent Heating Mode

    Science.gov (United States)

    Infrared heating controlled by intermittent heating mode was found to be able to achieve simultaneous dry-blanching and dehydration of apple slices with a desirable quality. In order to better understand the performance of intermittent heating for simultaneous dry-blanching and dehydration (SIDBD),...

  1. Neonatal dehydrering (tørstefeber) hos nyfødte børn

    DEFF Research Database (Denmark)

    Zachariassen, Gitte; Juvonen, Pekka

    2002-01-01

    The aim was to identify characteristics in infants suffering from dehydration caused by breast-feeding malnutrition over a period of 21 months in South Denmark.......The aim was to identify characteristics in infants suffering from dehydration caused by breast-feeding malnutrition over a period of 21 months in South Denmark....

  2. Quality of frozen fruit bars manufactured through infrared pre-dehydration

    Science.gov (United States)

    In this study, frozen restructured whole apple and strawberry bars were manufactured by partial dehydration, using infrared (IR) heating, followed by restructuring and freezing. The objective of this investigation was to determine the effect of IR partial dehydration on the quality of restructured f...

  3. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia

    NARCIS (Netherlands)

    DeVries, DD; Went, LN; Bruyn, GW; Scholte, HR; Hofstra, RMW; Bolhuis, PA; vanOost, BA

    1996-01-01

    A rare form of Leber hereditary optic neuropathy (LHON) that is associated with hereditary spastic dystonia has been studied in a large Dutch family. Neuropathy and ophthalmological lesions were present together in some family members, whereas only one type of abnormality was found in others. mtDNA

  4. Process simulation for revamping of a dehydration gas plant

    Directory of Open Access Journals (Sweden)

    H.A. El Mawgoud

    2015-12-01

    This paper focuses on modeling and simulation for revamping a dehydration gas plant named “Akik” existing in Egypt and owned by Khalda Petroleum Company. The plant was almost depreciated, and the company administration decided to revamp it and at the same time perform the necessary modifications in order to cut down the equipment cost and reduce energy consumption. To achieve this target the existing plant configuration was simulated using Aspen HYSIS program. The model has been built according to the actual process flow diagram. The results of this model could be considered as a basis on which a new heat and material balance will be developed for the plant. Three different alternatives were investigated and evaluated to choose the optimum one with respect to the minimum equipment cost, provided keeping the same specifications and quantity of the produced gas.

  5. Rehydration of a reattached fractured tooth fragment after prolonged dehydration.

    Science.gov (United States)

    Arhun, Neslihan; Onay, Emel Olga; Ungor, Mete

    2012-01-01

    Crown fractures of the anterior teeth are one of the most common outcomes of trauma to the orofacial region. The reattachment of dental fragments is a conservative treatment and should be considered a primary treatment choice in the restoration of anterior tooth fractures. This article presents a clinical technique for the restoration of a fractured maxillary lateral incisor by reattaching the tooth fragment that was kept in dry conditions for five days with the aid of adhesive dentistry. The esthetic compromise of white color (due to excessive dehydration of the segment) was reconciled after one month of service in the mouth by regaining the natural color by rehydration. The one-year clinical evaluation revealed a successful outcome for this technique, and the patient was pleased with the esthetic results of the conservative treatment modality.

  6. [Incidence of Bacillus cereus in powdered dehydrated food].

    Science.gov (United States)

    Iacona, V A; Simonetta, A; Basílico, J C

    1987-01-01

    Bacillus cereus incidence on dehydrated powdered foods on sale in supermarkets of Santa Fe city was studied. Two hundred and fifty samples of five different foods: desserts, soups, mousses, pre-cooked "polenta" and mashed potatoes, were examined. Toxinogenic activity of strains confirmed as B. cereus by means of the test of lethality in rats, was analyzed. The ratio between contaminated samples and total analyzed samples was always greater than 6% (Table 1). Besides, none of the analyzed foods exceeded acceptability maximum limit (10(5) UFC/g), established by I.C.M.S.F. (Table 2). It was checked in all cases that no simple lineal correlation existed between B. cereus and total aerobic bacteria enumerations. On the other hand, the percentage of strains with lethal effects was in all cases greater than 42.8% (Table 3).

  7. Dehydration improves cryopreservation of coconut (Cocos nucifera L.).

    Science.gov (United States)

    Sisunandar; Sopade, Peter A; Samosir, Yohannes M S; Rival, Alain; Adkins, Steve W

    2010-12-01

    Cryopreservation of coconut can be used as a strategy to back up the establishment of living collections which are expensive to maintain and are under constant threat from biotic and abiotic factors. Unfortunately, cryopreservation protocols still need to be developed that are capable of producing a sizeable number of field-grown plants. Therefore, we report on the development of an improved cryopreservation protocol which can be used on a wide range of coconut cultivars. The cryopreservation of zygotic embryos and their recovery to soil-growing plants was achieved through the application of four optimised steps viz.: (i) rapid dehydration; (ii) rapid cooling; (iii) rapid warming and recovery in vitro and (iv) acclimatization and soil-supported growth. The thermal properties of water within the embryos were monitored using differential scanning calorimetry (DSC) in order to ensure that the freezable component was kept to a minimum. The feasibility of the protocol was assessed using the Malayan Yellow Dwarf (MYD) cultivar in Australia and then tested on a range of cultivars which were freshly harvested and studied in Indonesia. The most efficient protocol was one based on an 8-h rapid dehydration step followed by rapid cooling step. Best recovery percentages were obtained when a rapid warming step and an optimised in vitro culture step were used. Following this protocol, 20% (when cryopreserved 12 days after harvesting) and 40% (when cryopreserved at the time of harvest) of all MYD embryos cryopreserved could be returned to normal seedlings growing in soil. DSC showed that this protocol induced a drop in embryo fresh weight to 19% and significantly reduced the amount of water remaining that could produce ice crystals (0.1%). Of the 20 cultivars tested, 16 were found to produce between 10% and 40% normal seedlings while four cultivars generated between 0% and 10% normal seedlings after cryopreservation. This new protocol is applicable to a wide range of coconut

  8. Dehydration of isobutanol to isobutene in a slurry reactor

    Energy Technology Data Exchange (ETDEWEB)

    Latshaw, B.E.

    1994-02-01

    The April 1990 Alternative Fuels Proposal to the Department of Energy involved the development of new technology, based on the liquid phase process, for conversion of coal-derived synthesis gas to oxygenated hydrocarbon fuels, fuel additives, and fuel intermediates. The objective of this work was to develop a slurry reactor based process for the dehydration of isobutanol to isobutene. The isobutene can serve as a feedstock for the high octane oxygenated fuel additive methyl tertiary-butyl either (MTBE). Alumina catalysts were investigated because of their wide use as a dehydration catalyst. Four commercially available alumina catalysts (Catapal B, Versal B, Versal GH, and Al-3996R) were evaluated for both activity and selectivity to the branched olefin. All four catalysts demonstrated conversions greater than 80% at 290 C, while conversions of near 100% could be obtained at 330 C. The reaction favors low pressures and moderate to low space velocities. A yield of 0.90 mole isobutene per mole reacted isobutanol or better was obtained at conversions of 60--70% and higher. From 75 to 98% conversion, the four catalysts all provide isobutene yields ranging from 0.92 to 0.94 with the maximum occurring around 90% conversion. At low conversions, the concentration of diisobutyl ether becomes significant while the concentration of linear butenes is essentially a linear function of isobutanol conversion. Doping the catalyst with up to 0.8 wt % potassium showed a modest increase in isobutene selectivity; however, this increase was more than offset by a reduction in activity. Investigations using a mixed alcohols feed (consistent with isobutanol synthesis from syngas) demonstrated a small increase in the C4 iso-olefin selectivity over that observed for a pure isobutanol feed. 55 refs.

  9. Osmo-convective dehydration kinetics of jackfruit (Artocarpus heterophyllus

    Directory of Open Access Journals (Sweden)

    Pragati Kaushal

    2016-06-01

    Full Text Available Osmotic dehydration is a process in which partial water is removed by immersion of water containing cellular solid in a concentrated aqueous solution of high osmotic media for a specific time and temperature. Preliminary trials were planned for finalizing the concentration of osmolyte (salt solution: 5%, 10%, 15% and 20%. The osmotically pre-treated samples were dried at 50 °C which were examined using sensory parameters. On the basis of sensory parameters, 15% salt solution concentration was considered best. The osmotically pre-treated jackfruit samples of 15% salt solution were convectively dehydrated in a tray dryer at air temperatures of 50, 60 and 70 °C at constant velocity of 1.5 m/s air flow in perforated trays. Results indicated that drying took place in falling rate period. The sample dried at 60 °C was found better in color as compared to samples at 50 and 70 °C. Mathematical models were fitted to the experimental data and the performance of these models was evaluated by comparing the coefficient of determination (R2, Root mean square error (RMSE, reduced chi-square (χ2, percent mean relative deviation modulus (E% between observed and predicted moisture ratio. The best model was chosen as one with the highest coefficient of correlation (R2; and the least χ2, RMSE and mean relative deviation modulus (E. Wang and Singh model, having χ2 and RMSE value (at 60 °C of 0.00027 and 0.01655 respectively gave the best results for describing the drying behavior of jackfruit samples.

  10. Methods to increase the rate of mass transfer during osmotic dehydration of foods

    Directory of Open Access Journals (Sweden)

    Anna Chwastek

    2014-12-01

    Full Text Available Traditional methods of food preservation such as freezing, freeze drying (lyophilization, vacuum drying, convection drying are often supplemented by new technologies that enable obtaining of high quality products. Osmotic dehydration is more and more often used during processing of fruits and vegetables. This method allows maintaining good organoleptic and functional properties in the finished product. Obtaining the desired degree of dehydration or saturation of the material with an osmoactive substance often requires  elongation of time or use of high temperatures. In recent years much attention was devoted to techniques aimed at increasing the mass transfer between the dehydrated material and the hypertonic solution. The work reviews the literature focused on methods of streamlining the process of osmotic dehydration which include the use of: ultrasound, high hydrostatic pressure, vacuum osmotic dehydration and pulsed electric field.

  11. Cost- and energy-efficient dehydration of unconventional oil using disc-stack centrifuges

    Energy Technology Data Exchange (ETDEWEB)

    Agrell, J. [Alfa Laval Tumba AB, Stockholm (Sweden)

    2008-07-01

    Centrifuge dehydration methods for heavy oils were discussed. The high viscosity of heavy oils can mean that emulsions are often stabilized by surface-active compounds that occur naturally in the oil during dehydration processes. Disc-stack centrifuges are used to dehydrate crude oils without the excessive need for chemical treatments and wash water. The lower separation temperatures mean that dehydration can be accomplished with reduced energy inputs and lower carbon dioxide (CO{sub 2}) emissions. The main challenges to efficient crude oil dehydration were identified as the small density difference between oil and water; high oil viscosity; higher solids content; and the tight emulsions formed through oil processing. It was concluded that separation at higher viscosities leads to reduced heating requirements and increased energy savings. Continuous solids discharge make it possible for large amounts of solids to be processed. 3 refs.

  12. ENHANCING OSMOTIC DEHYDRATION WITH ACOUSTIC CAVITATION%声空化强化渗透脱水

    Institute of Scientific and Technical Information of China (English)

    孙宝芝; 姜任秋; 淮秀兰; 李斌; 刘登瀛

    2004-01-01

    An experimental study was carried out to enhance osmotic dehydration of fruits--apples using acoustic cavitation. The variation in water losses and dry matter gain rates of materials with solute concentration, cavitation intensity, the thickness of materials and treating time segment during osmotic dehydration was discussed, at the same time, the influence of different materials on mass transfer during osmotic dehydration using acoustic cavitation was investigated. The results showed that water losses rates of materials were remarkably increased during osmotic dehydration using acoustic cavitation, but dry matter gain rates increased very little. Meanwhile the physical mechanism of enhanced mass transfer during osmotic dehydration with acoustic cavitation was clarified on the basis of analyzing the experimental results.

  13. Hereditary Angioedema - Consequences of a New Treatment Paradigm in Denmark

    DEFF Research Database (Denmark)

    Bygum, Anette

    2014-01-01

    impact on their lives and restricted their physical activities. By December 2012, a total of 39 patients (49%) were practicing home treatment of acute attacks. Home therapy reduced the mean number of acute hospital visits by 84% and significantly improved burden of illness items. In conclusion, home......Experiences from a Danish patient cohort with hereditary angioedema are reported with focus on home therapy and burden of illness. Eighty patients have been prospectively followed over 11 years, having experienced a total of 7,809 attacks over 469 patient years. More than half of the patients...... stopped long-term prophylaxis with danazol or tranexamic acid and changed treatment regimen to on-demand treatment with C1 inhibitor concentrate or icatibant. At least 10% of the attacks remained un-treated. More than half of the patients felt that hereditary angioedema had a significant psychological...

  14. Spinal Exostosis in a Boy with Multiple Hereditary Exostoses

    Directory of Open Access Journals (Sweden)

    Ali Al Kaissi

    2013-01-01

    Full Text Available We report on a 13-year-old boy who presented with multiple hereditary exostosis and had development of back pain, associated with neurological deficits, and was found to have exostoses in the spinal canal. Spine radiograph showed a cauliflower-like abnormality of multiple exostoses of the posterior arch (pedicle of the thoracic vertebrae (T3–5. Reformatted CT scanning revealed the simultaneous development of intra- and extraspinal osteochondromatosis of T3–5. The spinal cord was compressed by the intraspinal exostosis. Our patient was surgically treated for intraspinal exostoses and showed cessation of neurological deficits. We report what might be a rare association of spinal cord compression in a patient with multiple hereditary exostoses.

  15. [Band 3 deficiency as a cause of hereditary spherocytosis].

    Science.gov (United States)

    Wada, Hideho; Suemori, Shin-Ichiro; Nakanishi, Hidekazu; Sugihara, Takashi

    2015-07-01

    Band 3 protein accounts for the largest percentage of whole erythrocyte membrane proteins. Abnormalities in this protein are closely associated with pathologies including hereditary spherocytosis (HS), Southeast Asian ovalocytosis and distant renal tubular acidosis. Currently, EMA binding capacity measurement in erythrocytes is the most useful screening test for diagnosing HS. We have also demonstrated reduced EMA binding capacity in patients with HS who have deficiencies of membrane proteins such as ankyrin not directly binding to EMA and who have as yet undetectable abnormalities of membrane proteins. However, even patients with hereditary elliptocytosis, who have a partial spectrin deficiency, were found to show reduced EMA binding capacity. Six of 7 had spherocytic elliptocytosis. Therefore, it is necessary to meticulously diagnose HS by ruling out all other possibilities.

  16. Benefits and risks of danazol in hereditary angioedema

    DEFF Research Database (Denmark)

    Bork, Konrad; Bygum, Anette; Hardt, Jochen

    2008-01-01

    . In the other patients, hereditary angioedema ran a mild course. The frequency of acute attacks during danazol treatment was reduced to 16.2%, and the attacks were considerably milder than before treatment. Laryngeal edema was reduced to 4.8%. Adverse effects (weight gain, virilization, menstrual irregularities......BACKGROUND: Hereditary angioedema (HAE) due to C1 inhibitor deficiency is clinically characterized by relapsing skin swellings, abdominal pain attacks, and life-threatening upper airway obstruction. Treatment with androgens prevents attacks for those with this condition. OBJECTIVE: To examine...... the benefits and risks of long-term treatment with danazol. METHODS: Data were generated retrospectively from 118 German and Danish patients who had HAE due to C1 inhibitor deficiency and were treated with danazol from 2 months to 30 years. The frequency and severity of acute attacks were registered before...

  17. The potential of disease management for neuromuscular hereditary disorders.

    Science.gov (United States)

    Chouinard, Maud-Christine; Gagnon, Cynthia; Laberge, Luc; Tremblay, Carmen; Côté, Charlotte; Leclerc, Nadine; Mathieu, Jean

    2009-01-01

    Neuromuscular hereditary disorders require long-term multidisciplinary rehabilitation management. Although the need for coordinated healthcare management has long been recognized, most neuromuscular disorders are still lacking clinical guidelines about their long-term management and structured evaluation plan with associated services. One of the most prevalent adult-onset neuromuscular disorders, myotonic dystrophy type 1, generally presents several comorbidities and a variable clinical picture, making management a constant challenge. This article presents a healthcare follow-up plan and proposes a nursing case management within a disease management program as an innovative and promising approach. This disease management program and model consists of eight components including population identification processes, evidence-based practice guidelines, collaborative practice, patient self-management education, and process outcomes evaluation (Disease Management Association of America, 2004). It is believed to have the potential to significantly improve healthcare management for neuromuscular hereditary disorders and will prove useful to nurses delivering and organizing services for this population.

  18. The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis

    Directory of Open Access Journals (Sweden)

    Poulami Majumder

    2013-01-01

    Full Text Available Hereditary gingival fibromatosis (HGF is a rare condition which is marked by enlargement of gingival tissue that covers teeth to various extents leading to aesthetic disfigurement. This study presents a case of a 28-year-old female patient and 18-year-old male who belong to the same family suffering from HGF with chief complaint of overgrowing swelling gingiva. The presence of enlarged gingiva with the same eruption was found in their other family members with no concomitant drug or medical history, and the occurrence of HGF has been found in one generation of this family which may indicate the autosomal recessive inheritance pattern of HGF. Hereditary gingival fibromatosis is an idiopathic condition as its etiology is unknown and it was found to recur in some cases even after surgical treatment. Both patients underwent thorough oral prophylaxis and later surgical therapy to correct the deformity.

  19. Leber's hereditary optic neuropathy associated with multiple sclerosis: Harding's syndrome.

    Science.gov (United States)

    Parry-Jones, A R; Mitchell, J D; Gunarwardena, W J; Shaunak, S

    2008-04-01

    We describe a 32-year-old woman with sequential, severe, painless visual loss in one eye and then the other, and three temporally distinct episodes of neurological disturbance suggestive of demyelination in the spinal cord. She was positive for the T14484C mutation in the mitochondrial genome, one of three common mutations causing Leber's hereditary optic neuropathy. In addition, MRI identified areas of demyelination within the periventricular white matter of the brain and within the spinal cord. The coexistence of multiple sclerosis and Leber's hereditary optic neuropathy (Harding's syndrome) is known to occur more often than would be expected by chance; therefore, screening for the Leber's mutations in multiple sclerosis patients with severe visual loss should be considered because this has important prognostic and genetic implications.

  20. Glaucoma progression associated with Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Nucci, Carlo; Martucci, Alessio; Mancino, Raffaele; Cerulli, Luciano

    2013-02-01

    The purpose of this article is to describe a case of open-angle glaucoma progression associated with Leber's hereditary optic neuropathy. Single case analysis method is used. A 53-year-old woman with a previous diagnosis of glaucoma presented with progressive visual field loss. Complete ophthalmological examination and blood tests were negative for other concomitant diseases. Genetic counseling revealed mitochondrial DNA mutation compatible with the diagnosis of Leber's hereditary optic neuropathy. In conclusion, the case describes the concomitant occurrence of open-angle glaucoma and Leber's optic neuropathy. We hypothesize that the two diseases may have a cumulative effect on oxidative stress and retinal ganglion cell death with the consequent rapid progression of visual impairment. Screening for mitochondrial DNA mutations may be requested in patients with glaucoma who, despite pharmacologically controlled intraocular pressure, show rapid progression of the disease.

  1. Could Ossification of the Achilles Tendon Have a Hereditary Component?

    Directory of Open Access Journals (Sweden)

    Chawki Cortbaoui

    2013-01-01

    Full Text Available Ossification of the Achilles tendon (OTA is an unusual clinical condition. It is characterized by the presence of an ossified mass within the fibrocartilaginous substance of the Achilles tendon. The etiology of the ossification of the Achilles tendon is unknown. Review of the literature suggests that its etiology is multifactorial. The major contributing factors are trauma and surgery with other minor causes such as systemic diseases, metabolic conditions, and infections. To our knowledge, no previous reports suggest any genetic/hereditary predisposition in OAT. We report 3 siblings who have OAT with no history of any of the aforementioned predisposing factors. Could OAT have a hereditary component as one of its etiologies?

  2. Proteolipid protein 1 gene sequencing of hereditary spastic paraplegia

    Institute of Scientific and Technical Information of China (English)

    Yu Gao; Lumei Chi; Yinshi Jin; Guangxian Nan

    2012-01-01

    PCR amplification and sequencing of whole blood DNA from an individual with hereditary spastic paraplegia, as well as family members, revealed a fragment of proteolipid protein 1 (PLP1) gene exon 1, which excluded the possibility of isomer 1 expression for this family. The fragment sequence of exon 3 and exon 5 was consistent with the proteolipid protein 1 sequence at NCBI. In the proband samples, a PLP1 point mutation in exon 4 was detected at the basic group of position 844, T→C, phenylalanine→leucine. In proband samples from a male cousin, the basic group at position 844 was C, but gene sequencing signals revealed mixed signals of T and C, indicating possible mutation at this locus. Results demonstrated that changes in PLP1 exon 4 amino acids were associated with onset of hereditary spastic paraplegia.

  3. Hereditary Hemochromatosis Restores the Virulence of Plague Vaccine Strains

    Science.gov (United States)

    Quenee, Lauriane E.; Hermanas, Timothy M.; Ciletti, Nancy; Louvel, Helene; Miller, Nathan C.; Elli, Derek; Blaylock, Bill; Mitchell, Anthony; Schroeder, Jay; Krausz, Thomas; Kanabrocki, Joseph; Schneewind, Olaf

    2012-01-01

    Nonpigmented Yersinia pestis (pgm) strains are defective in scavenging host iron and have been used in live-attenuated vaccines to combat plague epidemics. Recently, a Y. pestis pgm strain was isolated from a researcher with hereditary hemochromatosis who died from laboratory-acquired plague. We used hemojuvelin-knockout (Hjv−/−) mice to examine whether iron-storage disease restores the virulence defects of nonpigmented Y. pestis. Unlike wild-type mice, Hjv−/− mice developed lethal plague when challenged with Y. pestis pgm strains. Immunization of Hjv−/− mice with a subunit vaccine that blocks Y. pestis type III secretion generated protection against plague. Thus, individuals with hereditary hemochromatosis may be protected with subunit vaccines but should not be exposed to live-attenuated plague vaccines. PMID:22896664

  4. Hereditary hearing loss: from human mutation to mechanism.

    Science.gov (United States)

    Lenz, Danielle R; Avraham, Karen B

    2011-11-01

    The genetic heterogeneity of hereditary hearing loss is thus far represented by hundreds of genes encoding a large variety of proteins. Mutations in these genes have been discovered for patients with different modes of inheritance and types of hearing loss, ranging from syndromic to non-syndromic and mild to profound. In many cases, the mechanisms whereby the mutations lead to hearing loss have been partly elucidated using cell culture systems and mouse and other animal models. The discovery of the genes has completely changed the practice of genetic counseling in this area, providing potential diagnosis in many cases that can be coupled with clinical phenotypes and offer predictive information for families. In this review we provide three examples of gene discovery in families with hereditary hearing loss, all associated with elucidation of some of the mechanisms leading to hair cell degeneration and pathology of deafness.

  5. [Clinical and molecular genetic analysis of hereditary optic neuropathies].

    Science.gov (United States)

    Avetisov, S É; Sheremet, N L; Vorob'eva, O K; Eliseeva, É G; Chukhrova, A L; Loginova, A N; Khanakova, N A; Poliakov, A V

    2013-01-01

    DNA samples of 50 patients with optic neuropathy (ON) associated with congenital cataract were studied to find 3 major mt-DNA mutations (m.11778G>A, m.3460G>A, m.14484T>C), mutations in "hot" regions of OPA 1 gene (exons 8, 14, 15, 16, 18, 27, 28) and in the entire coding sequence of OPA3 gene for molecular genetic confirmation of diagnosis of hereditary Leber and autosomal dominant ON. Primary mutations of mtDNA responsible for hereditary Leber ON were found in 16 patients (32%). Pathogenic mutations of OPAl gene (c.869G>A and c. 2850delT) were identified in 2 patients (4%), these mutations were not found in the literature. OPA3 gene mutations were not revealed.

  6. Disease mechanisms in hereditary sensory and autonomic neuropathies.

    Science.gov (United States)

    Verpoorten, Nathalie; De Jonghe, Peter; Timmerman, Vincent

    2006-02-01

    Inherited peripheral neuropathies are common monogenically inherited diseases of the peripheral nervous system. In the most common variant, i.e., the hereditary motor and sensory neuropathies, both motor and sensory nerves are affected. In contrast, sensory abnormalities predominate or are exclusively present in hereditary sensory and autonomic neuropathies (HSAN). HSAN are clinically and genetically heterogeneous and are subdivided according to mode of inheritance, age of onset and clinical evolution. In recent years, 6 disease-causing genes have been identified for autosomal dominant and recessive HSAN. However, vesicular transport and axonal trafficking seem important common pathways leading to degeneration of sensory and autonomic neurons. This review discusses the HSAN-related genes and their biological role in the disease mechanisms leading to HSAN.

  7. [Hereditary ataxias, spastic parapareses and neuropathies in Eastern Canada].

    Science.gov (United States)

    Dupré, N; Chrestian, N; Thiffault, I; Brais, B; Rouleau, G A; Bouchard, J-P

    2008-01-01

    It has been demonstrated, for many inherited diseases, that historical events have shaped the various regional gene pools of Eastern Canada. In so doing, it has given rise to the increased prevalence of some rare diseases due, to founder effects. The following neurogenetic disorders were first identified in patients from Eastern Canada: AOA-2, Arsacs, HSN-2, Arca-1, HMSN/ACC and Arsal. The population of Eastern Canada, we are convinced, will still allow the identification of new rare forms of hereditary ataxias, spastic parapareses and neuropathies as well as contribute to the uncovering of their mutated genes. We have summarized our current knowledge of the various hereditary ataxias, spastic parapareses and neuropathies in Eastern Canada. The study of the more common and homogenous features of these diseases has been largely completed.

  8. Hereditary peripheral neuropathies of childhood: an overview for clinicians.

    Science.gov (United States)

    Wilmshurst, Jo M; Ouvrier, Robert

    2011-11-01

    This review focuses on the "pure" hereditary peripheral neuropathies where peripheral nerve disease is the main manifestation and does not address neurodegenerative disorders associated with but not dominated by peripheral neuropathy. Aetiologies of childhood-onset peripheral neuropathies differ from those of adult-onset, with more inherited conditions, especially autosomal recessive. Charcot-Marie-Tooth disease is the commonest neuromuscular disorder. The genetic labels of CMT (Charcot-Marie-Tooth) disease types 1-4 are the preferred sub-type terms. Clinical presentations and molecular genetic heterogeneity of hereditary peripheral neuropathies are diverse. For most patients worldwide, diagnostic studies are limited to clinical assessment. Such markers which could be used to identify specific sub-types include presentation in early childhood, scoliosis, marked sensory involvement, respiratory compromise, upper limb involvement, visual or hearing impairment, pyramidal signs and mental retardation. These key markers may assist targeted genetic testing and aid in diagnosing children where DNA testing is not possible.

  9. A Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma

    Directory of Open Access Journals (Sweden)

    Sarah Mehrtens

    2016-01-01

    Full Text Available A 49-year-old lady presented with multiple recurring painful lesions over her thighs, arms, and back. Past medical history included a left sided nephrectomy for renal cell carcinoma and a hysterectomy for multiple uterine fibroids (leiomyomas. Histopathological examination revealed changes consistent with pilar leiomyomas. Gene mutation analysis confirmed a diagnosis of hereditary leiomyomatosis and renal cell carcinoma. Hereditary leiomyomatosis and renal cell carcinoma is an uncommon autosomal dominant condition characterised by the concurrent presentation of cutaneous and uterine leiomyomas. Renal cell carcinoma associated with this condition is more aggressive and a significant cause of mortality. Due to this association with potentially fatal renal cell carcinoma we felt that it was important to highlight this case with an update on pathophysiology and management.

  10. The Molecular Basis of Hereditary Enamel Defects in Humans

    Science.gov (United States)

    Carrion, I.A.; Morris, C.

    2015-01-01

    The formation of human enamel is highly regulated at the molecular level and involves thousands of genes. Requisites for development of this highly mineralized tissue include cell differentiation; production of a unique extracellular matrix; processing of the extracellular matrix; altering of cell function during different stages of enamel formation; cell movement and attachment; regulation of ion and protein movement; and regulation of hydration, pH, and other conditions of the microenvironment, to name just a few. Not surprising, there is a plethora of hereditary conditions with an enamel phenotype. The objective of this review was to identify the hereditary conditions listed on Online Mendelian Inheritance in Man (OMIM) that have an associated enamel phenotype and whether a causative gene has been identified. The OMIM database was searched with the terms amelogenesis, enamel, dental, and tooth, and all results were screened by 2 individuals to determine if an enamel phenotype was identified. Gene and gene product function was reviewed on OMIM and from publications identified in PubMed. The search strategy revealed 91 conditions listed in OMIM as having an enamel phenotype, and of those, 71 have a known molecular etiology or linked genetic loci. The purported protein function of those conditions with a known genetic basis included enzymes, regulatory proteins, extracellular matrix proteins, transcription factors, and transmembrane proteins. The most common enamel phenotype was a deficient amount of enamel, or enamel hypoplasia, with hypomineralization defects being reported less frequently. Knowing these molecular defects allows an initial cataloging of molecular pathways that lead to hereditary enamel defects in humans. This knowledge provides insight into the diverse molecular pathways involved in enamel formation and can be useful when searching for the genetic etiology of hereditary conditions that involve enamel. PMID:25389004

  11. Hereditary Nonsyndromic Gingival Fibromatosis: Report of Family Case Series

    Directory of Open Access Journals (Sweden)

    Syed Wali Peeran

    2013-01-01

    Full Text Available Hereditary gingival fibromatosis (HGF is a rare, benign disorder with slowly progressive enlargement of maxillary and mandibular gingiva. Herewith, we report the first case series of HGF presenting among mother and all of her 3 children. Their complaints included unaesthetic appearance due to gingival growth, malocclusion, and difficulty in mastication. Conventional gingivectomy with oral hygiene measures and regular followup is the treatment of choice for such presentation.

  12. A Rare Cause of Abdominal Pain in Children: Hereditary Angioedema

    Directory of Open Access Journals (Sweden)

    Deniz Özçeker

    2015-03-01

    Full Text Available Hereditary angioedema (HA is a rare, autosomal-dominant genetic disorder presenting with recurrent attacks of angioedema. The most commonly involved organs include the extremites, face, neck, upper respiratory tract, genital region and the gastrointestinal tract. Edema of the intestinal mucosa can cause temporary obstruction and severe abdominal pain that can be confused with acute abdomen. Pediatricians and emergency physicians should keep in mind this rare disease in the differential diagnosis of severe abdominal pain.

  13. Hereditary angioedema: quality of life in Brazilian patients

    Directory of Open Access Journals (Sweden)

    Maria Abadia Consuelo M. S. Gomide

    2013-01-01

    Full Text Available OBJECTIVE: Hereditary angioedema is a serious medical condition caused by a rare autosomal dominant genetic disorder and it is associated with deficient production or dysfunction of the C1 esterase inhibitor. In most cases, affected patients experience unexpected and recurrent crises of subcutaneous, gastrointestinal and laryngeal edema. The unpredictability, intensity and other factors associated with the disease impact the quality of life of hereditary angioedema patients. We evaluated the quality of life in Brazilian hereditary angioedema patients. METHODS: Patients older than 15 years with any severity of hereditary angioedema and laboratory confirmation of C1 inhibitor deficiency were included. Two questionnaires were used: a clinical questionnaire and the SF-36 (a generic questionnaire. This protocol was approved by the Ethics Committee of Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. RESULTS: The SF-36 showed that 90.4% (mean of all the patients had a score below 70 and 9.6% had scores equal to or higher than 70. The scores of the eight dimensions ranged from 51.03 to 75.95; vitality and social aspects were more affected than other arenas. The internal consistency of the evaluation was demonstrated by a Cronbach's alpha value above 0.7 in seven of the eight domains. CONCLUSIONS: In this study, Brazilian patients demonstrated an impaired quality of life, as measured by the SF-36. The most affected domains were those related to vitality and social characteristics. The generic SF-36 questionnaire was relevant to the evaluation of quality of life; however, there is a need for more specific instruments for better evaluation.

  14. HEREDITARY INTRAVENTRICULAR CONDUCTION DISORDERS IN THE FAMILY FROM KRASNOYARSK

    Directory of Open Access Journals (Sweden)

    A. A. Chernova

    2011-01-01

    Full Text Available Pedigree of the family from Krasnoyarsk city with hereditary disorders of intracardiac conduction was studied. The diagnosis of each family member was verified by electrocardiography (ECG, echocardiography , bicycle ergometry , ECG Holter monitoring. The family 10-year follow-up showed familial aggregation of intracardiac conduction disorders in grandson, niece, son of the proband niece, ie, in the III-degree relatives. Family history of III-degree relatives with intracardiac conduction disorders and discordant pathology is identified.

  15. Hereditary sensory and autonomic neuropathies: types II, III, and IV

    OpenAIRE

    Axelrod Felicia B; Gold-von Simson Gabrielle

    2007-01-01

    Abstract The hereditary sensory and autonomic neuropathies (HSAN) encompass a number of inherited disorders that are associated with sensory dysfunction (depressed reflexes, altered pain and temperature perception) and varying degrees of autonomic dysfunction (gastroesophageal reflux, postural hypotention, excessive sweating). Subsequent to the numerical classification of four distinct forms of HSAN that was proposed by Dyck and Ohta, additional entities continue to be described, so that iden...

  16. The molecular basis of hereditary enamel defects in humans.

    Science.gov (United States)

    Wright, J T; Carrion, I A; Morris, C

    2015-01-01

    The formation of human enamel is highly regulated at the molecular level and involves thousands of genes. Requisites for development of this highly mineralized tissue include cell differentiation; production of a unique extracellular matrix; processing of the extracellular matrix; altering of cell function during different stages of enamel formation; cell movement and attachment; regulation of ion and protein movement; and regulation of hydration, pH, and other conditions of the microenvironment, to name just a few. Not surprising, there is a plethora of hereditary conditions with an enamel phenotype. The objective of this review was to identify the hereditary conditions listed on Online Mendelian Inheritance in Man (OMIM) that have an associated enamel phenotype and whether a causative gene has been identified. The OMIM database was searched with the terms amelogenesis, enamel, dental, and tooth, and all results were screened by 2 individuals to determine if an enamel phenotype was identified. Gene and gene product function was reviewed on OMIM and from publications identified in PubMed. The search strategy revealed 91 conditions listed in OMIM as having an enamel phenotype, and of those, 71 have a known molecular etiology or linked genetic loci. The purported protein function of those conditions with a known genetic basis included enzymes, regulatory proteins, extracellular matrix proteins, transcription factors, and transmembrane proteins. The most common enamel phenotype was a deficient amount of enamel, or enamel hypoplasia, with hypomineralization defects being reported less frequently. Knowing these molecular defects allows an initial cataloging of molecular pathways that lead to hereditary enamel defects in humans. This knowledge provides insight into the diverse molecular pathways involved in enamel formation and can be useful when searching for the genetic etiology of hereditary conditions that involve enamel.

  17. Hereditary vitamin D rickets: a case series in a family.

    Science.gov (United States)

    Surender, Kumar; Kochar, I P S; Ahmad, Ayesha; Kapoor, Meenal

    2014-11-01

    Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by end-organ resistance to 1α,25-dihydroxyvitamin D3 (1,25D3). Clinically, the syndrome is recognized by severe early onset rickets with bowing of the lower extremities, short stature, and often alopecia. Here, we report a case series on three siblings who had HVDRR with varied clinical findings.

  18. Renal fructose-metabolizing enzymes: significance in hereditary fructose intolerance.

    Science.gov (United States)

    Kranhold, J F; Loh, D; Morris, R C

    1969-07-25

    In patients with hereditary fructose intolerance, which is characterized by deficient aldolase activity toward fructose-1-phosphate, fructose induces a renal tubular dysfunction that implicates only the proximal convoluted tubule. Because normal metabolism of fructose by way of fructose-1-phosphate requires fructokinase, aldolase "B," and triokinase, the exclusively cortical location of these enzymes indicates that the medulla is not involved in the metabolic abnormality presumably causal of the renal dysfunction.

  19. A possible case of transient hereditary fructose intolerance.

    Science.gov (United States)

    Catto-Smith, A G; Adams, A

    1993-01-01

    A patient is described who presented with the signs and symptoms of hereditary fructose intolerance a few hours after her first fructose challenge. The diagnosis was confirmed by the demonstration of reduced activity of hepatic aldolase B towards fructose-1-phosphate. A second liver biopsy 10 months later had normal aldolase B activity towards fructose-1-phosphate and a fructose tolerance test was also normal. A possible explanation for these findings is proposed.

  20. One novel transcript of human hereditary multipleexostoses 2 (EXT2)

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    The encoding sequence of human hereditary multiple exostoses gene EXT2.1 is 30 bp longer than EXT2, and they differ in a sequence of 90 base pairs. In order to clarify EXT2.1 structure, this 90 bp sequence was analyzed with the Human Sequence Draft, a database provided by Celera Genomics. The result shows that EXT2.1 is a novel transcript of EXT2 gene, suggesting a rare event of alternative splicing.

  1. Hereditary spastic paraplegia with a thin corpus callosum

    Energy Technology Data Exchange (ETDEWEB)

    Somasundaram, Sivaraman; Kesavadas, Chandrasekharan [Sree Chitra Tirunal Institute for Medical Sciences and Technology, Department of Imaging Sciences and Interventional Radiology, Trivandrum (India); Raghavendra, Seetharam; Singh, Atampreet; Nair, Muraleedharan [Sree Chitra Tirunal Institute for Medical Sciences and Technology, Department of Neurology, Trivandrum (India)

    2007-05-15

    We report a 15-year-old boy with autosomal recessive complicated hereditary spastic paraplegia with a thin corpus callosum (HSP-TCC). The involvement of the corpus callosum was characteristic with the genu and body predominantly affected with relative sparing of the splenium. HSP-TCC is being increasingly recognized over a wider geographical area than earlier believed. We now report a case of HSP-TCC from the Indian subcontinent. (orig.)

  2. An overview of novel therapies for acute hereditary angioedema.

    Science.gov (United States)

    Firszt, Rafael; Frank, Michael M

    2010-12-01

    Hereditary angioedema is an episodic swelling disorder with autosomal dominant inheritance. Attacks are characterized by nonpitting edema of external or mucosal body surfaces. Patients often present with swelling of the extremities, abdominal pain, and swelling of the mouth and throat, which can at times lead to asphyxiation. The disease is caused by a mutation in the gene encoding the complement C1-inhibitor protein, which leads to unregulated production of bradykinin. Long-term therapy has depended on the use of attenuated androgens or plasmin inhibitors but in the US there was, until recently, no specific therapy for acute attacks. As well, many patients with hereditary angioedema in the US were either not adequately controlled on previously available therapies or required doses of medications that exposed them to the risk of serious adverse effects. Five companies have completed or are currently conducting phase III clinical trials in the development of specific therapies to terminate acute attacks or to be used as prophylaxis. These products are based on either replacement therapy with purified plasma-derived or recombinant C1-inhibitor, or inhibition of the kinin-generating pathways with a recombinant plasma kallikrein inhibitor or bradykinin type 2 receptor antagonist. Published studies thus far suggest that all of these products are likely to be effective. These new therapies will likely lead to a totally new approach in treating hereditary angioedema.

  3. Small Heat Shock Proteins and Distal Hereditary Neuropathies.

    Science.gov (United States)

    Nefedova, V V; Muranova, L K; Sudnitsyna, M V; Ryzhavskaya, A S; Gusev, N B

    2015-12-01

    Classification of small heat shock proteins (sHsp) is presented and processes regulated by sHsp are described. Symptoms of hereditary distal neuropathy are described and the genes whose mutations are associated with development of this congenital disease are listed. The literature data and our own results concerning physicochemical properties of HspB1 mutants associated with Charcot-Marie-Tooth disease are analyzed. Mutations of HspB1, associated with hereditary motor neuron disease, can be accompanied by change of the size of HspB1 oligomers, by decreased stability under unfavorable conditions, by changes in the interaction with protein partners, and as a rule by decrease of chaperone-like activity. The largest part of these mutations is accompanied by change of oligomer stability (that can be either increased or decreased) or by change of intermonomer interaction inside an oligomer. Data on point mutation of HspB3 associated with axonal neuropathy are presented. Data concerning point mutations of Lys141 of HspB8 and those associated with hereditary neuropathy and different forms of Charcot-Marie-Tooth disease are analyzed. It is supposed that point mutations of sHsp associated with distal neuropathies lead either to loss of function (for instance, decrease of chaperone-like activity) or to gain of harmful functions (for instance, increase of interaction with certain protein partners).

  4. [Diagnosis of the peripheral hereditary neuropathies and its molecular genetics].

    Science.gov (United States)

    Hernández-Zamora, Edgar; Arenas-Sordo, María de la Luz

    2008-01-01

    Peripheral neuropathies include a wide range of pathological disorders characterized by damage of peripheral nerves. Among them, peripheral hereditary neuropathies are a group of frequent illnesses and early evolution. They have been named hereditary motor and sensory neuropathy (HMSN) or peripheral hereditary neuropathies type Charcot-Marie-Tooth (CMT). The most frequent types are CMT1, CMT2 and CMTX. Approximately 70% of the cases correspond to subtype CMT1A, associated with tandem duplication of a 1.5 Mb DNA fragment on chromosome 17p11.2-p12 that codifies the peripheral myelin protein PMP22. So far, there five different types of CMT (1,2,3,4,X) with approximately 32 subtypes, associated with more than 30 genes. Have been reported genetic heterogeneity and expression variability of the illness makes it necessary to carry on diagnostic strategies that integrate clinical study for determining genetic clinical history, family history, complete physical exploration, muscular strength, physical deformities, reflexes and sensitivity, and molecular studies allow detection of different types of mutations and help establish a correct diagnosis and an adequate genetic counseling.

  5. Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.

    Science.gov (United States)

    Beheshtian, Maryam; Babanejad, Mojgan; Azaiez, Hela; Bazazzadegan, Niloofar; Kolbe, Diana; Sloan-Heggen, Christina; Arzhangi, Sanaz; Booth, Kevin; Mohseni, Marzieh; Frees, Kathy; Azizi, Mohammad Hossein; Daneshi, Ahmad; Farhadi, Mohammad; Kahrizi, Kimia; Smith, Richard Jh; Najmabadi, Hossein

    2016-10-01

    A significant contribution to the causes of hereditary hearing impairment comes from genetic factors. More than 120 genes and 160 loci have been identified to be involved in hearing impairment. Given that consanguine populations are more vulnerable to most inherited diseases, such as hereditary hearing loss (HHL), the genetic picture of HHL among the Iranian population, which consists of at least eight ethnic subgroups with a high rate of intermarriage, is expected to be highly heterogeneous. Using an electronic literature review through various databases such as PubMed, MEDLINE, and Scopus, we review the current picture of HHL in Iran. In this review, we present more than 39 deafness genes reported to cause non-syndromic HHL in Iran, of which the most prevalent causative genes include GJB2, SLC26A4, MYO15A, and MYO7A. In addition, we highlight some of the more common genetic causes of syndromic HHL in Iran. These results are of importance for further investigation and elucidation of the molecular basis of HHL in Iran and also for developing a national diagnostic tool tailored to the Iranian context enabling early and efficient diagnosis of hereditary hearing impairment.

  6. Management of hereditary angioedema in pregnant women: a review

    Directory of Open Access Journals (Sweden)

    Caballero T

    2014-09-01

    Full Text Available Teresa Caballero,1,2 Julio Canabal,1 Daniela Rivero-Paparoni,1 Rosario Cabañas1 1Hospital La Paz Institute for Health Research, (IdiPaz 2Biomedical Research Network on Rare Diseases-U754 (CIBERER, Madrid, Spain Abstract: Three types of hereditary angioedema (HAE have been described: two are due to C1 inhibitor (C1-INH deficiency (C1-INH-HAE types I and II and one is characterized by normal C1-INH (nC1-INH-HAE. The management of pregnancy in patients with HAE is often a clinical challenge owing to potential worsening of the disease in relation to the physiological increase in estrogens and the limited treatment options. This review addresses the potential influence of pregnancy on the clinical severity of hereditary angioedema and the management of this disease during pregnancy with currently available treatments. Keywords: hereditary angioedema, pregnancy, female, treatment, C1 inhibitor concentrate, tranexamic acid

  7. 2010 International consensus algorithm for the diagnosis, therapy and management of hereditary angioedema

    DEFF Research Database (Denmark)

    Bowen, Tom; Cicardi, Marco; Farkas, Henriette

    2010-01-01

    ABSTRACT: BACKGROUND: We published the Canadian 2003 International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema (HAE; C1 inhibitor [C1-INH] deficiency) and updated this as Hereditary angioedema: a current state-of-the-art review: Canadian Hungarian 2007...... International Consensus Algorithm for the Diagnosis, Therapy, and Management of Hereditary Angioedema. OBJECTIVE: To update the International Consensus Algorithm for the Diagnosis, Therapy and Management of Hereditary Angioedema (circa 2010). METHODS: The Canadian Hereditary Angioedema Network (CHAEN...... approach. The Consensus document was reviewed at the meeting and then circulated for review. RESULTS: This manuscript is the 2010 International Consensus Algorithm for the Diagnosis, Therapy and Management of Hereditary Angioedema that resulted from that conference. CONCLUSIONS: Consensus approach is only...

  8. Hereditary Spherocytosis in a Middle-aged Man Complicated with Common Bile Duct Stones.

    Science.gov (United States)

    Sawahara, Hiroaki; Iwamuro, Masaya; Harada, Ryo; Yoshioka, Masao; Niguma, Takefumi; Mimura, Tetsushige; Yamamoto, Kazuhide

    2015-01-01

    Hereditary spherocytosis is the most common form of hemolytic anemia and is characterized by spherical, osmotically fragile erythrocytes that are selectively trapped by the spleen. Hereditary spherocytosis is typically diagnosed in childhood. We herein experienced a rare case of hereditary spherocytosis diagnosed in middle age. The patient presented with cholelithiasis and hyperbilirubinemia. He had no anemia and was asymptomatic with mild splenomegaly. In the differential diagnosis of these symptoms, the possibility of hereditary spherocytosis should be considered, even in patients who are middle-aged and lack anemia.

  9. Dispersion of compound muscle action potential in hereditary neuropathies and chronic inflammatory demyelinating polyneuropathy.

    Science.gov (United States)

    Stanton, Michael; Pannoni, Valerie; Lewis, Richard A; Logigian, Eric L; Naguib, Demian; Shy, Michael E; Cleland, James; Herrmann, David N

    2006-10-01

    Distal compound muscle action potential (DCMAP) dispersion, defined as a DCMAP duration > or = 9 ms, and proximal-distal (P-D) CMAP dispersion are considered useful in the electrodiagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP). Distal and P-D CMAP dispersion have not been fully studied in hereditary neuropathies, and it is not known whether these measures distinguish hereditary from acquired demyelination. We compared DCMAP duration and P-D CMAP dispersion in 91 genetically characterized hereditary neuropathies and 33 subjects with CIDP. DCMAP dispersion was more frequent in nerves affected by CIDP (41.5%) than in Charcot-Marie-Tooth disease (CMT)1A (24.4%), CMT1B (7.4%), hereditary neuropathy with liability to pressure palsies (HNPP) (10.5%), or CMTX (9.8%). P-D CMAP dispersion was more frequent in CIDP (27.7% of nerves) than in hereditary neuropathies (16.3%) when applying American Academy of Neurology (AAN) criteria; however, its frequency was similar in CIDP and the hereditary neuropathies using the more restrictive criteria of the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM). Although dispersion is more common in CIDP than in the hereditary neuropathies, DCMAP and P-D dispersion occur in at least one motor nerve in a significant proportion of hereditary neuropathies, and cannot be used in isolation to distinguish acquired from hereditary demyelination.

  10. Effect of acute mild dehydration on cognitive-motor performance in golf.

    Science.gov (United States)

    Smith, Mark F; Newell, Alex J; Baker, Mistrelle R

    2012-11-01

    Whether mild dehydration (-1 to 3% body mass change [ΔBM]) impairs neurophysiological function during sport-specific cognitive-motor performance has yet to be fully elucidated. To investigate this within a golfing context, 7 low-handicap players (age: 21 ± 1.1 years; mass: 76.1 ± 11.8 kg; stature: 1.77 ± 0.07 m; handicap: 3.0 ± 1.2) completed a golf-specific motor and cognitive performance task in a euhydrated condition (EC) and dehydrated condition (DC) (randomized counterbalanced design; 7-day interval). Dehydration was controlled using a previously effective 12-hour fluid restriction, monitored through ΔBM and urine color assessment (UCOL). Mild dehydration reduced the mean BM by 1.5 ± 0.5% (p = 0.01), with UCOL increasing from 2 (EC) to 4 (DC) (p = 0.02). Mild dehydration significantly impaired motor performance, expressed as shot distance (114.6 vs. 128.6 m; p performance, expressed as the mean error in distance judgment to target increased from 4.1 ± 3.0 m (EC) to 8.8 ± 4.7 m (DC) (p dehydration (-1 to 2% ΔBM) significantly impairs cognitive-motor task performance. This study is the first to show that mild dehydration can impair distance, accuracy, and distance judgment during golf performance.

  11. Mathematical modeling of dehydration of 'Fuji' and 'Gala' apples slices using infrared

    Directory of Open Access Journals (Sweden)

    Emílio de Souza Santos

    2011-09-01

    Full Text Available The objective of this work was to determine and model the infrared dehydration curves of apple slices - Fuji and Gala varieties. The slices were dehydrated until constant mass, in a prototype dryer with infrared heating source. The applied temperatures ranged from 50 to 100 °C. Due to the physical characteristics of the product, the dehydration curve was divided in two periods, constant and falling, separated by the critical moisture content. A linear model was used to describe the constant dehydration period. Empirical models traditionally used to model the drying behavior of agricultural products were fitted to the experimental data of the falling dehydration period. Critical moisture contents of 2.811 and 3.103 kgw kgs-1 were observed for the Fuji and Gala varieties, respectively. Based on the results, it was concluded that the constant dehydration rates presented a direct relationship with the temperature; thus, it was possible to fit a model that describes the moisture content variation in function of time and temperature. Among the tested models, which describe the falling dehydration period, the model proposed by Midilli presented the best fit for all studied conditions.

  12. Structural and Functional Trends in Dehydrating Bimodules from trans -Acyltransferase Polyketide Synthases

    Energy Technology Data Exchange (ETDEWEB)

    Wagner, Drew T.; Zeng, Jia; Bailey, Constance B.; Gay, Darren C.; Yuan, Fang; Manion, Hannah R.; Keatinge-Clay, Adrian T. (Texas)

    2017-07-01

    In an effort to uncover the structural motifs and biosynthetic logic of the relatively uncharacterized trans-acyltransferase polyketide synthases, we have begun the dissection of the enigmatic dehydrating bimodules common in these enzymatic assembly lines. We report the 1.98 Å resolution structure of a ketoreductase (KR) from the first half of a type A dehydrating bimodule and the 2.22 Å resolution structure of a dehydratase (DH) from the second half of a type B dehydrating bimodule. The KR, from the third module of the bacillaene synthase, and the DH, from the tenth module of the difficidin synthase, possess features not observed in structurally characterized homologs. The DH architecture provides clues for how it catalyzes a unique double dehydration. Correlations between the chemistries proposed for dehydrating bimodules and bioinformatic analysis indicate that type A dehydrating bimodules generally produce an α/β-cis alkene moiety, while type B dehydrating bimodules generally produce an α/β-trans, γ/δ-cis diene moiety.

  13. Influence of environmental conditions on the kinetics and mechanism of dehydration of carbamazepine dihydrate.

    Science.gov (United States)

    Han, J; Suryanarayanan, R

    1998-11-01

    The object of this project was to study the influence of temperature and water vapor pressure on the kinetics and mechanism of dehydration of carbamazepine dihydrate and to establish the relationship between the dehydration mechanism and the solid-state of the anhydrous phase formed. Three experimental techniques were utilized to study the kinetics of dehydration of carbamazepine dihydrate (C15H12N2O.2H2O)-thermogravimetric analysis (TGA), differential scanning calorimetry (DSC) and variable temperature powder X-ray diffractometry (VTXRD). These techniques respectively provide information about the changes in weight, heat flow and solid-state (phase) during the dehydration process. The instrumental setup was modified so that simultaneous control of both the temperature and the water vapor pressure was possible. The experiments were carried out at different temperatures, ranging from 26 to 64 degrees C. In the absence of water vapor, the dehydration followed the 2-dimensional phase boundary controlled model at all the temperatures studied. In the next stage, the water vapor pressure was altered while the studies were carried out at a single temperature of 44 degrees C. The dehydration was 2-dimensional phase boundary controlled at water vapor pressures or = 12.0 torr. In the former case, the anhydrous phase formed was X-ray amorphous while it was the crystalline anhydrous gamma-carbamazepine in the latter. Thus a relationship between the mechanism of dehydration and the solid-state of the product phase was evident. The dehydration conditions influence not only the mechanism but also the solid-state of the anhydrous phase formed. While the techniques of TGA and DSC have found extensive use in studying dehydration reactions, VTXRD proved to be an excellent complement in characterizing the solid-states of the reactant and product phases.

  14. Exercise-induced dehydration with and without environmental heat stress results in increased oxidative stress.

    Science.gov (United States)

    Hillman, Angela R; Vince, Rebecca V; Taylor, Lee; McNaughton, Lars; Mitchell, Nigel; Siegler, Jason

    2011-10-01

    While in vitro work has revealed that dehydration and hyperthermia can elicit increased cellular and oxidative stress, in vivo research linking dehydration, hyperthermia, and oxidative stress is limited. The purpose of this study was to investigate the effects of exercise-induced dehydration with and without hyperthermia on oxidative stress. Seven healthy male, trained cyclists (power output (W) at lactate threshold (LT): 199 ± 19 W) completed 90 min of cycling exercise at 95% LT followed by a 5-km time trial (TT) in 4 trials: (i) euhydration in a warm environment (EU-W, control), (ii) dehydration in a warm environment (DE-W), (iii) euhydration in a thermoneutral environment (EU-T), and (iv) dehydration in a thermoneutral environment (DE-T) (W: 33.9 ± 0.9 °C; T: 23.0 ± 1.0 °C). Oxidized glutathione (GSSG) increased significantly postexercise in dehydration trials only (DE-W: p dehydration trials (p = 0.08 for both). Monocyte heat shock protein 72 (HSP72) concentration was increased (p = 0.01) while lymphocyte HSP32 concentration was decreased for all trials (p = 0.02). Exercise-induced dehydration led to an increase in GSSG concentration while maintenance of euhydration attenuated these increases regardless of environmental condition. Additionally, we found evidence of increased cellular stress (measured via HSP) during all trials independent of hydration status and environment. Finally, both 90-min and 5-km TT performances were reduced during only the DE-W trial, likely a result of combined cellular stress, hyperthermia, and dehydration. These findings highlight the importance of fluid consumption during exercise to attenuate thermal and oxidative stress during prolonged exercise in the heat.

  15. Molecular and structural preservation of dehydrated bio-tissue for THz spectroscopy

    Science.gov (United States)

    Png, Gretel M.; Choi, Jin Wook; Guest, Ian; Ng, Brian W.-H.; Mickan, Samuel P.; Abbott, Derek; Zhang, Xi-Cheng

    2007-12-01

    Terahertz transmission through freshly excised biological tissue is limited by the tissue's high water content. Tissue fixation methods that remove water, such as fixation in Formalin, destroy the structural information of proteins hence are not suitable for THz applications. Dehydration is one possible method for revealing the tissue's underlying molecular structure and components. In this study, we measured the THz responses over time of dehydrating fresh, necrotic and lyophilized rat tissue. Our results show that as expected, THz absorption increases dramatically with drying and tissue freshness can be maintained through lyophilization. Dehydrated biological tissue with retained molecular structure can be useful for future laser-based THz wave molecular analysis.

  16. Use of Different Kinds of Solutes Alternative to Sucrose in Osmotic Dehydration of Yacon

    Directory of Open Access Journals (Sweden)

    Bethania Brochier

    2015-02-01

    Full Text Available The present work aimed to evaluate glycerol, maltodextrin, polydextrose and sorbitol for the osmotic dehydration of yacon for diabetics, keeping its properties as prebiotic. Osmotic dehydration was carried out using a yacon to 33% concentrated syrup weight ratio of 1:12, with magnetic stirring at 23ºC and atmospheric pressure. The best results were achieved for glycerol and sorbitol with 80 ± 4% and 81± 1% of water removal and increase of 3.73 ± 0.11 and 4.30 ± 0.16 times in total soluble solids respectively. Maltodextrin did not promote dehydration.

  17. Iron-Catalyzed Dehydration of Aldoximes to Nitriles Requiring Neither Other Reagents Nor Nitrile Media.

    Science.gov (United States)

    Hyodo, Kengo; Kitagawa, Saki; Yamazaki, Masayuki; Uchida, Kingo

    2016-05-06

    The dehydration of aldoximes is an environmentally benign reaction affording the desired nitrile and water as a by-product. However, most of the reported catalytic dehydration reactions of aldoximes require a solvent containing nitrile to synthesize the corresponding nitrile compounds. Inspired by recent reports on the enzymatic synthesis under nitrile-free conditions, we here describe that a simple iron salt catalyzes the dehydration of aldoximes requiring neither other reagents nor nitrile media. Our method can be applied to the one-pot synthesis of nitiriles from aldehydes. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  18. Effects of Ultrasonic on the Dehydration Function of Sludge and Discussion on Internal Mechanism

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    [Objective] The aim was to study the effects of ultrasonic on the dehydration function of sludge and internal mechanism.[Method] Taking the residual sludge from a municipal domestic sewage treatment plant as an object,the effects of ultrasonic time and sound energy density on the dehydration function of sludge were studied firstly,then the internal mechanism of improvement of sludge dehydration function by ultrasonic was discussed.[Result] As the increase of ultrasonic time,sludge particles became smaller,a...

  19. Quality Comparison of Vegetables Dehydrated in Solar Drier and Electrical Oven

    Directory of Open Access Journals (Sweden)

    H. C. Joshi

    1991-01-01

    Full Text Available Ascorbic acid, sugars, dehydration ratio and moisture were determined in the vegetables dehydrated separately in solar drier and in electrical oven under similar conditions by standard methods. Vegetables examined were cabbage, cauliflower, tomato, radish, turnip, lahi, methi and palak. It was revealed that in each case, contents of ascorbic acid were higher in solar-dried vegetables in comparison to oven-dried stuffs. This finding indicated superiority of solar driers over electrical ovens, both in reference to quality of the dehydrated vegetables and its overall cost of operation.

  20. Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy--a new distal hereditary motor neuropathy phenotype.

    Science.gov (United States)

    Haberlová, J; Claeys, K G; De Jonghe, P; Seeman, P

    2009-06-01

    Distal hereditary motor neuropathy is a heterogeneous group of disorders characterised by a pure motor axonal neuropathy. It is occasionally associated with additional signs such as facial weakness, vocal cord paralysis, weakness of the diaphragm, and pyramidal signs. Although predominantly the inheritance is autosomal dominant, all types of inheritance have been described. Here we report a Czech family with cranial nerves palsy as an initial feature of a non progressive infantile onset dominant distal hereditary motor neuropathy. This family may represent a new subtype of distal hereditary motor neuropathy.

  1. TEMPERATURE INFLUENCE ON THE AGARICUS BISPORUS MUSHROOMS DEHYDRATION PROCESS

    Directory of Open Access Journals (Sweden)

    LILIANA I. MIHALCEA

    2016-12-01

    Full Text Available Edible mushrooms are foods with high nutritional value, delicious and therapeutic products. The main objective of this research was to investigate the influence of different temperatures of the dehydration process on the microstructure and color of Agaricus bisporus mushrooms. Tray drying conditions were: constant air velocity, 50, 60 and 70 °C suited to relative humidity (RH values of 12.17, 4.8 and 2.26 % respectively. Mathematical modeling of drying process, effective moisture diffusivity and activation energy calculations were presented. The effective moisture diffusivity was between (1.09665 – 2.11723·10-10 m2∙s-1 for white and (0.99522 – 1.69885·10-10 m2∙s-1 for brown mushrooms. The activation energy values indicate a higher energy input for the white mushrooms drying. SEM micrographs revealed the overall integrity of the tissue and some hyphae from the stipes of brown and white mushroom appeared intact and similar. At 70 °C, the presence of these crystals is more emphasis due to calcium.

  2. Experimental investigation of bioethanol liquid phase dehydration using natural clinoptilolite.

    Science.gov (United States)

    Karimi, Samira; Ghobadian, Barat; Omidkhah, Mohammad-Reza; Towfighi, Jafar; Tavakkoli Yaraki, Mohammad

    2016-05-01

    An experimental study of bioethanol adsorption on natural Iranian clinoptilolite was carried out. Dynamic breakthrough curves were used to investigate the best adsorption conditions in bioethanol liquid phase. A laboratory setup was designed and fabricated for this purpose. In order to find the best operating conditions, the effect of liquid pressure, temperature and flow rate on breakthrough curves and consequently, maximum ethanol uptake by adsorbent were studied. The effects of different variables on final bioethanol concentration were investigated using Response Surface Methodology (RSM). The results showed that by working at optimum condition, feed with 96% (v/v) initial ethanol concentration could be purified up to 99.9% (v/v). In addition, the process was modeled using Box-Behnken model and optimum operational conditions to reach 99.9% for final ethanol concentration were found equal to 10.7 °C, 4.9 bar and 8 mL/min for liquid temperature, pressure and flow rate, respectively. Therefore, the selected natural Iranian clinoptilolite was found to be a promising adsorbent material for bioethanol dehydration process.

  3. Alabaster and Selenite Gypsum:I-Dehydration-Rehydration Comparison Studies

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    Two types of gypsum raw materials, selenite and alabaster, were used to prepare dental stone (α-hemihydrate).Gypsum lumps (0.8~2.5 cm) were hydrothermally treated at 135, 160 and 180°C for 6, 2 and 1 h respectively.The physicochemical properties and composition characteristics of the α-hemihydrates prepared from selenite and alabaster raw gypsum were determined. The results indicated that both the selenite and alabaster raw gypsum show the same chemical and mineralogical composition of calcium sulphate dihydrate. They differs only in their microstructure, selenite raw gypsum exhibits perfect regular crystals while alabaster gypsum, on the other hand,exhibits irregular, large size and interlocked crystals. Selenite is more accessible to dehydration than alabaster raw gypsum. The α-hemihydrate samples prepared from alabaster raw gypsum showed a very short setting time and a lower compressive strength values in relation to that prepared from selenite gypsum. The compressive strength values of the all prepared samples were higher than that specified by A.D.A specification for dental use. To optimize the setting time of both products further studies are needed.

  4. Dehydration of ethanol by facile synthesized glucose-based silica.

    Science.gov (United States)

    Tang, Baokun; Bi, Wentao; Row, Kyung Ho

    2013-02-01

    Bioethanol is considered a potential liquid fuel that can be produced from biomass by fermentation and distillation. Although most of the water is removed by distillation, the purity of ethanol is limited to 95-96 % due to the formation of a low-boiling point, water-ethanol azeotrope. To improve the use of ethanol as a fuel, many methods, such as dehydration, have been proposed to avoid distillation and improve the energy efficiency of extraction. Glucose-based silica, as an adsorbent, was prepared using a simple method, and was proposed for the adsorption of water from water-ethanol mixtures. After adsorption using 0.4 g of adsorbent for 3 h, the initial water concentration of 20 % (water, v/v) was decreased to 10 % (water, v/v). For water concentrations less than 5 % (water, v/v), the adsorbent could concentrate ethanol to 99 % (ethanol, v/v). The Langmuir isotherms used to describe the adsorption of water on an adsorbent showed a correlation coefficient of 0.94. The separation factor of the adsorbent also decreased with decreasing concentration of water in solution.

  5. Heat--sweat--dehydration--rehydration: a praxis oriented approach.

    Science.gov (United States)

    Brouns, F

    1991-01-01

    In any situation where heat production as a result of physical exercise exceeds heat elimination from the body by radiation and convection, the body will depend on sweat secretion and evaporation for its thermoregulation. Sweat secretion will reach maximal levels at high energy expenditures in the heat but will be limited when exercising in the cold climate. Athletes and their coaches should understand some of the principles of thermoregulation in order to make an adequate decision about optimal fluid and carbohydrate replacement in a specific situation. In general it is advised that the carbohydrate content of rehydration drinks should be low (max 80 g l-1) when sweat loss is maximal, may be intermediate when both carbohydrate availability and moderate dehydration influence performance (up to 110 g l-1), and may be maximal (up to 160 g l-1) when the sweat loss is minimized and carbohydrate is the major determinant of the rate of fatigue development. Sodium should be added to rehydration drinks in order to maximize fluid and carbohydrate absorption. A range of electrolyte values for replacement of sweat induced losses, based on whole body wash down procedure is presented.

  6. Detection of lard in a complex dehydrated stock

    Directory of Open Access Journals (Sweden)

    Balsells, M.

    1993-12-01

    Full Text Available The detection of lard in food products is of special interest for reasons of quality, dietetics or religious belief. Works carried out to date have mainly concerned fatty mixtures with others food components. This work studies a complex food products (dehydrated stock model containing hydrogenated palm and beef fat. An appraisal is carried out regarding the detection sensitivity to the addition of 0.2% lard, using data on sterols and fatty acids in the β position. This last model only appears reliable for the goal proposed.

    La detección de grasa de cerdo en un producto alimentario presenta un gran interés por motivos de calidad, dietéticos o de creencias religiosas. Los trabajos realizados hasta el presente han incidido fundamentalmente en mezclas de grasas. En el presente trabajo se estudia un alimento complejo (modelo de caldo deshidratado que contiene grasa de palma hidrogenada y grasa de buey. Se valora la sensibilidad de detección frente a la adición de un 0,2% de grasa de cerdo utilizando datos de esteroles y de los ácidos grasos en posición β. Sólo este último método aparece fiable para el objetivo propuesto.

  7. Cryopreservation of Dendrobium heterocarpum Lindl. via encapsulation-dehydration method

    Directory of Open Access Journals (Sweden)

    Witaya Pimda

    2010-07-01

    Full Text Available The species Dendrobium heterocarpum Lindl., a wild orchid native to north and northeastThailand, creates an aura of mystique and grandeur with their intricate flower appearance which enthralsmany collectors within the country. An increase in collection for trade or any orther purposes may lead toa dramatic decrase in the population of this species, thus becoming rare or endangered species in thenear future. Cryopreservation is an alternative means for conservation of plant genetic resourceswhich can be applied to this species. This study, therefore, was aimed to optimize the conditions forencapsulation-dehydration method in D. heterocarpum. The protocorms were successfully cryopreservedas the following protocol. The protocorms were encapsulated with Ca-alginate, precultured on solid NDmedium supplemented with 0.25 M sucrose for 1 week in the dark at 0°C and subsequently preculturedin liquid ND medium supplemented with 0.25 M sucrose for 2 days in the dark at 0°C. Then, they weredehydrated by air-drying for 12 hours and plunged into LN for 1 day. Recovery percentage was 8.33%after 2 weeks of regrowth. However, preculture with ABA was found to insufficiently enhance freezingand thawing tolerance. TTC staining was negative and further regrowth on solid ND medium confirmedno survival of the cryopreserved protocorms.

  8. Ethylene Formation by Catalytic Dehydration of Ethanol with Industrial Considerations

    Directory of Open Access Journals (Sweden)

    Ho-Shing Wu

    2012-12-01

    Full Text Available Ethylene is the primary component in most plastics, making it economically valuable. It is produced primarily by steam-cracking of hydrocarbons, but can alternatively be produced by the dehydration of ethanol, which can be produced from fermentation processes using renewable substrates such as glucose, starch and others. Due to rising oil prices, researchers now look at alternative reactions to produce green ethylene, but the process is far from being as economically competitive as using fossil fuels. Many studies have investigated catalysts and new reaction engineering technologies to increase ethylene yield and to lower reaction temperature, in an effort to make the reaction applicable in industry and most cost-efficient. This paper presents various lab synthesized catalysts, reaction conditions, and reactor technologies that achieved high ethylene yield at reasonable reaction temperatures, and evaluates their practicality in industrial application in comparison with steam-cracking plants. The most promising were found to be a nanoscale catalyst HZSM-5 with 99.7% ethylene selectivity at 240 °C and 630 h lifespan, using a microreactor technology with mechanical vapor recompression, and algae-produced ethanol to make ethylene.

  9. Sporadic diffuse segmental interstitial cell of Cajal hyperplasia harbouring two gastric gastrointestinal stromal tumours (GIST mimicking hereditary GIST syndromes

    Directory of Open Access Journals (Sweden)

    Mafalda Costa Neves

    2015-01-01

    Conclusion: We describe a diffuse form of sporadic ICC hyperplasia harbouring multifocal GISTs, mimicking diffuse ICC hyperplasia in hereditary GIST syndromes. Detection of somatic c-KIT exon 11 mutation ruled out a hereditary disorder.

  10. Energy efficient recovery and dehydration of ethanol from fermentation broths by Membrane Assisted Vapor Stripping technology

    Science.gov (United States)

    Distillation combined with molecular sieve dehydration is the current state of the art for fuel grade ethanol production from fermentation broths. To improve the sustainability of bioethanol production, energy efficient separation alternatives are needed, particularly for lower ...

  11. Membrane-based recovery and dehydration of alcohols from fermentation broths - of materials and modules

    Science.gov (United States)

    Distillation combined with molecular sieve dehydration is the current state of the art for fuel grade ethanol production from fermentation broths. As the liquid biofuels industry transitions to lignocellulosic feedstocks, expands the end product portfolio to include other alcoho...

  12. Ethanol-Water Near-Azeotropic Mixture Dehydration by Compound Starch-Based Adsorbent

    Institute of Scientific and Technical Information of China (English)

    孙津生; 师明; 王文平

    2015-01-01

    Ethanol-water near-azeotropic mixture dehydration was investigated by formulated compound starch-based adsorbent(CSA), which consists of corn, sweet potato and foaming agent. The net retention time and separa-tion factor of water over ethanol were measured by inverse gas chromatography(IGC). Results indicated that water has a longer net retention time than ethanol and that low temperature is beneficial to this dehydration process. Or-thogonal test was conducted under different vapor feed flow rates, bed temperatures and bed heights, to obtain op-timal fixed-bed dehydration condition. Dynamic saturated adsorbance was also studied. It was found that CSA has the same water adsorption capacity(0.15 g/g)as some commercial molecular sieves. Besides, this biosorptive dehy-dration process was found to be the most energy-efficient compared with other ethanol purification processes.

  13. Mixed Matrix Silicone and Fluorosilicone/Zeolite 4A Membranes for Ethanol Dehydration by Pervaporation

    Science.gov (United States)

    The ability of homogeneous and mixed matrix membranes prepared using standard silicone rubber, poly(dimethylsiloxane) (PDMS), and fluorosilicone rubber, poly(trifluoropropylmethylsiloxane) (PTFPMS), to dehydrate ethanol by pervaporation was evaluated. Although PDMS is generally c...

  14. Energy efficient recovery and dehydration of ethanol from fermentation broths by Membrane Assisted Vapor Stripping technology

    Science.gov (United States)

    Distillation combined with molecular sieve dehydration is the current state of the art for fuel grade ethanol production from fermentation broths. To improve the sustainability of bioethanol production, energy efficient separation alternatives are needed, particularly for lower ...

  15. Energy Efficient Hybrid Vapor Stripping-Vapor Permeation Process for Ethanol Recovery ad Dehydration

    Science.gov (United States)

    Distillation combined with molecular sieve dehydration is the current state of the art for fuel grade ethanol production from fermentation broths. To improve the sustainability of bioethanol production, energy efficient separation alternatives are needed, particularly for lower f...

  16. Effect of simultaneous infrared dry-blanching and dehydration on quality characteristics of carrot slices

    Science.gov (United States)

    This study investigated the effects of various processing parameters on carrot slices exposed to infrared (IR) radiation heating for achieving simultaneous infrared dry-blanching and dehydration (SIRDBD). The investigated parameters were product surface temperature, slice thickness and processing ti...

  17. Thermal Dehydration Kinetics of Gypsum and Borogypsum under Non-isothermal Conditions

    Institute of Scientific and Technical Information of China (English)

    I.Y.Elbeyli; S.Piskin

    2004-01-01

    Thermal dehydration of gypsum and borogypsum was investigated under nonisothermal conditions in air by using simultaneous thermogravimetric-differential thermal analyzer. Nonisothermal experiments were carried out at various linear heating rates. Kinetics of dehydration in the temperature range of 373-503 K were evaluated from the DTA (differential thermal analysis)-TGA (thermogravimetric analysis) data by means of Coats-Redfern,Kissinger and Doyle Equations. Values of the activation energy and the pre-exponential factor of the dehydration were calculated. The results of thermal experiments and kinetic parameters indicated that borogypsum is similar to gypsum from dehydration mechanism point of view although it consists of boron and small amount of alkali metal oxides.

  18. Energy Efficient Hybrid Vapor Stripping-Vapor Permeation Process for Ethanol Recovery ad Dehydration

    Science.gov (United States)

    Distillation combined with molecular sieve dehydration is the current state of the art for fuel grade ethanol production from fermentation broths. To improve the sustainability of bioethanol production, energy efficient separation alternatives are needed, particularly for lower f...

  19. Comparison of bioavailability and pharmacokinetics of diclofenac sodium and diclofenac potassium in normal and dehydrated rabbits

    Institute of Scientific and Technical Information of China (English)

    Mahmood AHMAD; Muhammad IQBAL; Ghulam MURTAZA

    2009-01-01

    Two different salts of diclofenac, diclofenac sodium and dielofenae potassium, in tablet dosage form were tested for their bioavailability and disposition kinetics in a group of eighteen rabbits in normal and experimentally induced dehydrated conditions with a wash out period of 7 days between both stages of study. Biochemical and physiological parameters were also measured in both normal and dehydrated states. Diclofenac levels in plasma were determined using a validated reversed phase HPLC method. Primary kinetic parameters i.e. AUC0-∞, Cmax, Tmax and other disposition kinetics were obtained with non-compartmental procedure. Biochemical parameters i.e. packed cell volume, plasma glucose and total lipid concentration in dehydrated rabbits increased significantly. Plasma concentration of diclofenac sodium and diclofenac potassium decreased significantly in water deprived rabbits. In comparison, diclofenac potassium in normal and dehydrated state of the same group of rabbits showed a significantly increased plasma concentration when compared with diclofenac sodium.

  20. A NOVEL HYDROPHILIC POLYMER MEMBRANE FOR THE DEHYDRATION OF ORGANIC SOLVENTS

    Science.gov (United States)

    Novel hydrophilic polymer membranes based on polyallylamine ydrochloride- polyvinylalcohol are developed. The high selectivity and flux characteristics of these membranes for the dehydration of organic solvents are evaluated using pervaporation technology and are found to be ver...

  1. Ultrasound-assisted osmotic dehydration and convective drying of apples: Process kinetics and quality issues

    Directory of Open Access Journals (Sweden)

    Mierzwa Dominik

    2016-09-01

    Full Text Available The aim of the present theme issue was to study the influence of ultrasound enhancement on the kinetics of osmotic dehydration and the effect of convective drying from the point of view of drying time and quality of dried products. Apple fruit was used as the experimental material. The kinetics of osmotic dehydration with (UAOD and without (OD ultrasound enhancement were examined for 40% fructose and sorbitol solutions. The effective dehydration time of osmotic process was determined. Preliminary dehydrated samples with OD and UAOD were next dried convectively with (CVUS and without (CV ultrasound assistance. The influence of OD and UAOD on the kinetics of CV and CVUS drying was analysed. The parameters of water activity and colour change were measured for the assessment of product quality after drying process.

  2. Dehydration rate determines the degree of membrane damage and desiccation tolerance in bryophytes.

    Science.gov (United States)

    Cruz de Carvalho, Ricardo; Catalá, Myriam; Branquinho, Cristina; Marques da Silva, Jorge; Barreno, Eva

    2017-03-01

    Desiccation tolerant (DT) organisms are able to withstand an extended loss of body water and rapidly resume metabolism upon rehydration. This ability, however, is strongly dependent on a slow dehydration rate. Fast dehydration affects membrane integrity leading to intracellular solute leakage upon rehydration and thereby impairs metabolism recovery. We test the hypothesis that the increased cell membrane damage and membrane permeability observed under fast dehydration, compared with slow dehydration, is related to an increase in lipid peroxidation. Our results reject this hypothesis because following rehydration lipid peroxidation remains unaltered, a fact that could be due to the high increase of NO upon rehydration. However, in fast-dried samples we found a strong signal of red autofluorescence upon rehydration, which correlates with an increase in ROS production and with membrane leakage, particularly the case of phenolics. This could be used as a bioindicator of oxidative stress and membrane damage.

  3. Gait Patterns in Patients with Hereditary Spastic Paraparesis

    Science.gov (United States)

    Ranavolo, Alberto; Lacquaniti, Francesco; Martino, Giovanni; Leonardi, Luca; Conte, Carmela; Varrecchia, Tiwana; Draicchio, Francesco; Coppola, Gianluca; Casali, Carlo; Pierelli, Francesco

    2016-01-01

    Background Spastic gait is a key feature in patients with hereditary spastic paraparesis, but the gait characterization and the relationship between the gait impairment and clinical characteristics have not been investigated. Objectives To describe the gait patterns in hereditary spastic paraparesis and to identify subgroups of patients according to specific kinematic features of walking. Methods We evaluated fifty patients by computerized gait analysis and compared them to healthy participants. We computed time-distance parameters of walking and the range of angular motion at hip, knee, and ankle joints, and at the trunk and pelvis. Lower limb joint moments and muscle co-activation values were also evaluated. Results We identified three distinct subgroups of patients based on the range of motion values. Subgroup one was characterized by reduced hip, knee, and ankle joint range of motion. These patients were the most severely affected from a clinical standpoint, had the highest spasticity, and walked at the slowest speed. Subgroup three was characterized by an increased hip joint range of motion, but knee and ankle joint range of motion values close to control values. These patients were the most mildly affected and had the highest walking speed. Finally, subgroup two showed reduced knee and ankle joint range of motion, and hip range of motion values close to control values. Disease severity and gait speed in subgroup two were between those of subgroups one and three. Conclusions We identified three distinctive gait patterns in patients with hereditary spastic paraparesis that correlated robustly with clinical data. Distinguishing specific features in the gait patterns of these patients may help tailor pharmacological and rehabilitative treatments and may help evaluate therapeutic effects over time. PMID:27732632

  4. Hereditary gingival fibromatosis with distinct dental, skeletal and developmental abnormalities.

    Science.gov (United States)

    Katz, Joseph; Guelmann, Marcio; Barak, Shlomo

    2002-01-01

    A case of a 9-year-old child with hereditary gingival fibromatosis, supernumerary tooth, chest deformities, auricular cartilage deformation, joint laxity and undescended testes is described. The exact mode of inheritance is unclear; a new mutation pattern is possible. These features resemble but differ from the previously reported Laband syndrome. The dental treatment consisted of surgical removal of the fibrous tissue and conservative restorative treatment under general anesthesia. The dental practitioner should be alert for developmental abnormalities such as supernumerary teeth and delayed tooth eruption. A comprehensive medical history and physical systemic evaluation is essential to rule out other systemic abnormalities. Genetic consultation is mandatory for future family planing.

  5. Moyamoya disease in a patient with hereditary spherocytosis

    Energy Technology Data Exchange (ETDEWEB)

    Holz, A.; Woldenberg, R.; Miller, D.; Kalina, P.; Black, K.; Lane, E. [Department of Radiology, North Shore University Hospital, New York University School of Medicine, 300 Community Drive, Manhasset, NY 11030 (United States)

    1998-02-01

    Moyamoya disease (MMD) is a rare cerebral vasculopathy characterized by occlusion of the supraclinoid portion of the internal carotid artery and proximal portions of the anterior and middle cerebral arteries. Patients develop an extensive collateral network of parenchymal, transdural and leptomeningeal vessels to supply the compromised brain. These collateral channels, also known as ``moyamoya vessels,`` may be seen in a number of disorders which lead to intracranial vascular occlusion. We report a case of MMD in a child with hereditary spherocytosis. (orig.) With 4 figs., 5 refs.

  6. Leber’s hereditary optic neuropathy - case report

    Directory of Open Access Journals (Sweden)

    Mirjana A. Janicijevic Petrovic

    2012-09-01

    Full Text Available Leber’s hereditary optic neuropathy is a neuro-ophthalmological entity characterized by acute or subacute bilateral, not simultaneous visual loss with centro cekal scotoma and occasional further visual improvement. This rare ophthalmological disease can be accompanied with dyschromatopsia. It is associated with a matrilineal inheritance pattern. Its diagnosis used to be solely clini¬cal, aided by imaging and neuro-physiological studies, until the advent of descriptions of mitochondrial biochemical abnormalities and genetic testing. We describe a case of 24 year old male with progressive painless deterioration of visual acuity and positive family history.

  7. Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy

    Science.gov (United States)

    Wallace, Douglas C.; Singh, Gurparkash; Lott, Marie T.; Hodge, Judy A.; Schurr, Theodore G.; Lezza, Angela M. S.; Elsas, Louis J.; Nikoskelainen, Eeva K.

    1988-12-01

    Leber's hereditary optic neuropathy is a maternally inherited disease resulting in optic nerve degeneration and cardiac dysrhythmia. A mitochondrial DNA replacement mutation was identified that correlated with this disease in multiple families. This mutation converted a highly conserved arginine to a histidine at codon 340 in the NADH dehydrogenase subunit 4 gene and eliminated an Sfa NI site, thus providing a simple diagnostic test. This finding demonstrated that a nucleotide change in a mitochondrial DNA energy production gene can result in a neurological disease.

  8. Current concepts in the treatment of hereditary ataxias

    Directory of Open Access Journals (Sweden)

    Pedro Braga Neto

    2016-03-01

    Full Text Available ABSTRACT Hereditary ataxias (HA represents an extensive group of clinically and genetically heterogeneous neurodegenerative diseases, characterized by progressive ataxia combined with extra-cerebellar and multi-systemic involvements, including peripheral neuropathy, pyramidal signs, movement disorders, seizures, and cognitive dysfunction. There is no effective treatment for HA, and management remains supportive and symptomatic. In this review, we will focus on the symptomatic treatment of the main autosomal recessive ataxias, autosomal dominant ataxias, X-linked cerebellar ataxias and mitochondrial ataxias. We describe management for different clinical symptoms, mechanism-based approaches, rehabilitation therapy, disease modifying therapy, future clinical trials and perspectives, genetic counseling and preimplantation genetic diagnosis.

  9. CDH1 germline mutations and hereditary lobular breast cancer.

    Science.gov (United States)

    Corso, Giovanni; Intra, Mattia; Trentin, Chiara; Veronesi, Paolo; Galimberti, Viviana

    2016-04-01

    Hereditary diffuse gastric cancer is an autosomal dominant inherited disease associated of CDH1 germline mutations (that encodes for the E-cadherin protein), and lobular breast cancer is the second most frequent type of neoplasia. Recently, novel E-cadherin constitutional alterations have been identified in pedigree clustering only for lobular breast carcinoma without evidence of diffuse gastric tumors and in absence of BRCA1/2 mutations. This first evidence opens novel questions about the inherited correlation between diffuse gastric and lobular breast cancers. In this brief review we revise the literature data about the CDH1 mutation frequency affecting exclusively lobular breast cancer, providing clinical recommendation for asymptomatic mutation carriers.

  10. Hereditary vitamin D-resistant rickets presenting as alopecia.

    Science.gov (United States)

    Casey, Genevieve; McPherson, Tess; Kini, Usha; Ryan, Fiona; Taibjee, Saleem M; Moss, Celia; Burge, Susan

    2014-01-01

    Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene. We report the case of an infant presenting with alopecia, growth failure, and gross motor developmental delay. Serum biochemistry and skeletal survey were consistent with rickets. After a poor response to standard treatment, genetic testing confirmed a c.147-2A>T novel mutation in the VDR gene consistent with HVDRR. It is important for dermatologists and pediatricians to recognize alopecia as a presenting sign of HVDRR because appropriate treatment leads to better growth and development of the child.

  11. A case of hereditary sensory autonomic neuropathy type IV

    Directory of Open Access Journals (Sweden)

    G P Prashanth

    2012-01-01

    Full Text Available Hereditary sensory autonomic neuropathy type IV (HSAN -IV, also known as congenital insensitivity to pain with anhidrosis, is a very rare condition that presents in infancy with anhidrosis, absence of pain sensation and self -mutilation. Developmental delay and mental retardation are usually present. Ultrastructural study of the peripheral nerves demonstrates loss of the unmyelinated and small myelinated fibers. We here report a 8 year -old boy with HSAN IV with typical clinical features where the diagnosis was supported by nerve biopsy findings. However, our case was unusual since mental development was normal.

  12. Postangioedema attack skin blisters: an unusual presentation of hereditary angioedema.

    Science.gov (United States)

    Wiesen, Jonathan; Gonzalez-Estrada, Alexei; Auron, Moises

    2014-04-10

    Hereditary angioedema (HAE) is an autosomal dominant disorder characterised by attacks of self-limited swelling affecting extremities, face and intra-abdominal organs, most often caused by mutations in the C1-inhibitor gene with secondary Bradykinin-mediated increased vascular permeability. We describe a 36-year-old man with a history of HAE who presented with painful interdigital bullae secondary to an acute oedema exacerbation. Biopsy and cultures of the lesions were negative and they resolved spontaneously. It is important to highlight and recognise the development of oedema blisters after resolution of a flare of HAE (only 1 previous case report), and hence avoid unnecessary dermatological diagnostic workup and treatment.

  13. Atypical Leber Hereditary Optic Neuropathy: 18 Year Interval Between Eyes.

    Science.gov (United States)

    Ohden, Kaitlyn L; Tang, Peter H; Lilley, Chrystia C; Lee, Michael S

    2016-09-01

    A 5-year-old boy developed profound loss of vision in his right eye and was found to have a 11778 mitochondrial point mutation consistent with Leber hereditary optic neuropathy (LHON). He maintained 20/20 vision in the left eye for 18 years until age 23, when he experienced loss of vision in that eye. This 18 year interval between eye involvement in LHON is the longest reported to date and reinforces the variability in presentation and progression seen in this disease.

  14. Late-onset Leber hereditary optic neuropathy mimicking Susac's syndrome.

    Science.gov (United States)

    Zoccolella, Stefano; Petruzzella, Vittoria; Prascina, Francesco; Artuso, Lucia; Pacillo, Francesca; Dell'Aglio, Rosa; Avolio, Carlo; Delle Noci, Nicola; Attimonelli, Marcella; Specchio, Luigi Maria

    2010-12-01

    Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by bilateral painless optic atrophy and blindness. It usually occurs in young men in association with three major mutations in the mitochondrial genome (mtDNA). We report a patient with a history of alcohol abuse who developed at age 63 years visual impairment, sensorineural hearing loss, and memory dysfunction, suggestive of Susac's syndrome. The patient carried the heteroplasmic mt. 11778G>A mutation on the T2e mtDNA haplogroup. It remains unclear if chronic alcohol abuse combined with the mitochondrial genetic background prompted an aged-related neurodegeneration or deferred the onset of the LHON disease.

  15. Leber Hereditary Optic Neuropathy: Bringing the Lab to the Clinic.

    Science.gov (United States)

    Rasool, Nailyn; Lessell, Simmons; Cestari, Dean M

    2016-01-01

    Leber hereditary optic neuropathy (LHON) was the first clinically characterized mitochondrial disorder. Since its first description in 1871, much has been discovered regarding the genetics and pathophysiology of the disease. This has enabled the development of in vitro cell and animal models that can be used to try to determine not only the effects of the genetic mutation upon the clinical phenotype but to also test potential novel therapies. Treatments for LHON have ranged from vitamins and minerals to immunosuppressants and, more recently, targeted gene therapy. This article reviews the pathophysiology and clinical features of LHON with a focus on translational research.

  16. Mutation analysis in Turkish patients with hereditary fructose intolerance.

    Science.gov (United States)

    Dursun, A; Kalkanoğlu, H S; Coşkun, T; Tokatli, A; Bittner, R; Koçak, N; Yüce, A; Ozalp, I; Boehme, H J

    2001-10-01

    Thirteen Turkish patients with hereditary fructose intolerance (HFI) were screened for the three common mutations, A149P, A174D and N334K, in the aldolase B gene that have been detected frequently in European population. We found that nine of the patients carry the A149P mutation in both alleles, which corresponds to a frequency of about 55%. Single-strand conformation analysis of all coding exons of the gene was also performed to detect unknown mutations in four patients not carrying the three common mutations. No aberrant migration patterns were observed in these patients.

  17. Leber Hereditary Optic Neuropathy Associated with Bilateral Macular Holes

    Science.gov (United States)

    Shimada, Yoshiaki; Horiguchi, Masayuki

    2016-01-01

    ABSTRACT Leber hereditary optic neuropathy (LHON) causes visual loss, predominantly in healthy young men. We recently examined a patient who previously had bilateral macular holes and subsequently developed LHON at 74 years of age. Although his central scotomas were initially attributed to the macular holes, his visual acuity declined following an initial improvement after operative closure of the macular holes; thus, other diagnoses, including LHON, were considered. Furthermore, macular optical coherence tomography (OCT) images remained unchanged in this time. A mitochondrial genetic analysis identified a 11778G→A mutation. From this case, we propose that LHON remains in the differential diagnosis even in older patients, as has previously been reported. PMID:27335507

  18. [Organization of therapeutic aid to patients with hereditary neuromuscular diseases].

    Science.gov (United States)

    Kalinin, V A; Temin, P A; Arkhipov, B A; Zavadenko, N N

    1989-01-01

    The paper summarizes experience gained for many years by the All-Union Research Methodological Center for Study of Hereditary Neuromuscular Diseases. The specialists of the Center render counselling and therapeutic assistance to patients afflicted with neuromuscular diseases. The counselling and diagnostic services are characterized by the fact that it is based on the activity of a large hospital intended for the treatment of various diseases. The problems which are being solved by the out- and inpatient services of the Center are considered in detail. The advantages of the setting up of the common in- and outpatient complex on the basis of the hospital intended for the treatment of various diseases are described.

  19. Cannabis potentially reduces recurrent episodes of hereditary angioedema

    Directory of Open Access Journals (Sweden)

    Phumpattra Chariyawong

    2017-01-01

    Full Text Available Hereditary angioedema (HAE is a rare disease affecting an estimated 1 in 50,000 individuals in the United States.The clinical presentation involves recurrent episodes of angioedema, without urticaria or pruritus, in mucosal tissues of various organ systems. We present a case of HAE type II with concomitant use of cannabis that possibly decreased the frequency of his episodes of angioedema. Recent studies indicate that cannabis has an important role in regulating innate immunity and inflammatory responses through the inhibition of pro-inflammatory cytokines and upregulation of anti-inflammatory cytokines. These effects might reduce episodes of angioedema, but more research is needed.

  20. [Hereditary angioedema. Control and treatment in 7 cases].

    Science.gov (United States)

    Marqués, L; Dordal, T; Baltasar, M; Guspi, R; Nogueiras, C; Cadahia, A

    1992-03-14

    Hereditary angioedema (HAE) is due to a deficit of the C1 inhibitor (C1 INH) of a dominant autosomic inheritance. Seven patients are presented from a family with HAE, four of whom with poor prognosis due to the frequency and site of the angioedema. Prophylaxis was obtained with long-term danazol since antifibrinolytic drugs are not efficient in the prevention of outbreaks of angioedema. In three cases a concentrate of C1 INH was administered and in another as short term prophylaxis prior to surgery. C1 INH was more efficient under these indications than fresh plasma or antifibrinolytic drugs.

  1. Hereditary properties of Amenability modulo an ideal of Banach algebras

    Directory of Open Access Journals (Sweden)

    Hamidreza Rahimi

    2014-10-01

    Full Text Available In this paper we investigate some hereditary properties of amenability modulo an ideal of Banach algebras. We show thatif $(e_{\\alpha}_{\\alpha}$ is a bounded approximate identity modulo $I$ of a Banach algebra $A$ and $X$ is a neo-unital modulo $I$, then $(e_{\\alpha}_{\\alpha}$ is a bounded approximate identity for $X$. Moreover we show that amenability modulo an ideal of a Banach algebra $A$ can be only considered by the neo-unital modulo $I$ Banach algebra over $A$

  2. Congenital optic nerve anomalies and hereditary optic neuropathies.

    Science.gov (United States)

    Heidary, Gena

    2014-12-01

    Congenital and hereditary optic nerve anomalies represent a significant cause of visual dysfunction. While some optic nerve abnormalities affect the visual system alone, others may be associated with neurologic and systemic findings. Correct identification of the optic nerve disease therefore is crucial both for developing a treatment plan with respect to visual rehabilitation, but also for initiating the appropriate multidisciplinary evaluation. The purpose of this review is to highlight common examples of congenital and inherited optic nerve abnormalities in an effort to familiarize the clinician with salient clinical features of these diseases and to review important systemic testing when relevant.

  3. Did Robert Louis Stevenson have hereditary hemorrhagic telangiectasia?

    Science.gov (United States)

    Guttmacher, A E; Callahan, J R

    2000-03-06

    Chronic illness played a major role in the life and literary success of Robert Louis Stevenson. However, the exact nature of his chronic illness remains unclear. It is possible that Stevenson had hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber Syndrome). This would explain his chronic respiratory complaints, recurrent episodes of pulmonary hemorrhage, and his death, at age 44 years, of probable cerebral hemorrhage. It would also explain his mother's hitherto unreported but apparent stroke, at age 38 years. Further support for this hypothesis might come from new details about the health of Stevenson and his relatives or from molecular analysis of tissue specimens remaining from him.

  4. Hereditary spastic paraplegia: clinical principles and genetic advances.

    Science.gov (United States)

    Fink, John K

    2014-07-01

    Hereditary spastic paraplegia (HSP) refers to inherited disorders in which spastic gait is either the only feature or is a major syndrome feature. There are more than 70 genetic types of HSP. Neuropathological studies, albeit limited to only a few genetic types of HSP, have identified axon degeneration involving the distal ends of the corticospinal tracts and fasciculus gracilis fibers. In this review, the author highlights the clinical and genetic features of HSP. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  5. Sex differences and plasticity in dehydration tolerance: insight from a tropical liverwort

    OpenAIRE

    Marks, Rose A.; Burton, James F.; McLetchie, D. Nicholas

    2016-01-01

    Background and Aims Adaptations allowing plants to cope with drying are particularly relevant in the light of predicted climate change. Dehydration tolerance (DhT, also dehydration-tolerant) is one such adaptation enabling tissue to survive substantial drying. A great deal of work has been conducted on highly DhT species. However, bryophytes showing less intense and variable DhT are understudied, despite the potential for these species to provide an informative link between highly tolerant an...

  6. Development and quality evaluation of dehydrated chicken meat rings using spent hen meat and different extenders

    OpenAIRE

    MISHRA, BIDYUT PRAVA; CHAUHAN, GEETA; Mendiratta, S. K.; B. D. Sharma; Desai, B. A.; Rath, P. K.

    2013-01-01

    It is recommended that for effective utilization of spent hen meat, it should be converted into value added or shelf stable meat products. Since we are lacking in cold chain facilities, therefore there is imperative need to develop shelf stable meat products. The present study was envisaged with the objective to develop dehydrated chicken meat rings utilizing spent hen meat with different extenders. A basic formulation and processing conditions were standardized for dehydrated chicken meat ri...

  7. Formation of Linear Polyenes in Thermal Dehydration of Polyvinyl Alcohol, Catalyzed by Phosphotungstic Acid

    Science.gov (United States)

    Tretinnikov, O. N.; Sushko, N. I.

    2015-01-01

    In order to obtain linear polyenes in polyvinyl alcohol films via acid-catalyzed thermal dehydration of the polyvinyl alcohol, we used phosphotungstic acid as the catalyst: a safe and heat-stable solid chemical compound. We established that phosphotungstic acid, introduced as solid nanoparticles into polyvinyl alcohol films, is a more effective dehydration catalyst than hydrochloric acid, since in contrast to HCl it does not evaporate from the film during heat treatment.

  8. Methanol dehydration reaction to produce clean diesel alternative dimethylether over mesoporous aluminosilicate-based catalysts

    OpenAIRE

    ÇİFTÇİ, Ay&#; VARIŞLI, Dilek; TOKAY, Kenan Cem

    2009-01-01

    Due to its good burning characteristics and high cetane number, dimethylether (DME) is considered as a highly attractive and clean alternative to diesel fuel. This ether can be produced by methanol dehydration reaction over solid acid catalysts. In the present study, activities of mesoporous aluminosilicate catalysts prepared by the hydrothermal synthesis route and containing Al/Si atomic ratios ranging between 0.03 and 0.18 were tested in methanol dehydration. The optimum Al/Si ...

  9. Role of dehydration catalyst acid properties on one-step DME synthesis over physical mixtures

    OpenAIRE

    Fraga, Marco André; Appel, Lúcia Gorenstin; Farias, Andréa Maria Duarte de; Ramos,F.S.; Borges, Luiz Eduardo Pizarro; Monteiro, José L. F.; Souza-Aguiar, E. F.

    2005-01-01

    The direct synthesis of dimethyl ether (DME) was studied in a continuous high-pressure unit composed basically of a Berty reactor and online gas chromatograph. A commercial methanol synthesis catalyst and some solid-acid catalysts (alumina. HZSM-S. tungsten-zirconia and sulfated-zirconia) were used as physical mixtures. The dehydration catalysts were characterised by pyridine adsorption followed by IR spectroscopy and tested in the methanol dehydration reaction itself. All samples were active...

  10. Methanol dehydration reaction to produce clean diesel alternative dimethylether over mesoporous aluminosilicate-based catalysts

    OpenAIRE

    ÇİFTÇİ, Ay& VARIŞLI, Dilek; TOKAY, Kenan Cem

    2014-01-01

    Due to its good burning characteristics and high cetane number, dimethylether (DME) is considered as a highly attractive and clean alternative to diesel fuel. This ether can be produced by methanol dehydration reaction over solid acid catalysts. In the present study, activities of mesoporous aluminosilicate catalysts prepared by the hydrothermal synthesis route and containing Al/Si atomic ratios ranging between 0.03 and 0.18 were tested in methanol dehydration. The optimum Al/Si ...

  11. Dehydration, rehydration, and overhydration alter patterns of gene expression in the Antarctic midge, Belgica antarctica.

    Science.gov (United States)

    Lopez-Martinez, Giancarlo; Benoit, Joshua B; Rinehart, Joseph P; Elnitsky, Michael A; Lee, Richard E; Denlinger, David L

    2009-05-01

    We investigated molecular responses elicited by three types of dehydration (fast, slow and cryoprotective), rehydration and overhydration in larvae of the Antarctic midge, Belgica antarctica. The larvae spend most the year encased in ice but during the austral summer are vulnerable to summer storms, osmotic stress from ocean spray and drying conditions due to wind and intense sunlight. Using suppressive subtractive hybridization (SSH), we obtained clones that were potentially responsive to dehydration and then used northern blots to evaluate the gene's responsiveness to different dehydration rates and hydration states. Among the genes most responsive to changes in the hydration state were those encoding heat shock proteins (smHsp, Hsp70, Hsp90), antioxidants (superoxide dismutase, catalase), detoxification (metallothionein, cytochrome p450), genes involved in altering cell membranes (fatty acid desaturase, phospholipase A2 activating protein, fatty acyl CoA desaturase) and the cytoskeleton (actin, muscle-specific actin), and several additional genes including a zinc-finger protein, pacifastin and VATPase. Among the three types of dehydration evaluated, fast dehydration elicited the strongest response (more genes, higher expression), followed by cryoprotective dehydration and slow dehydration. During rehydration most, but not all, genes that were expressed during dehydration continued to be expressed; fatty acid desaturase was the only gene to be uniquely upregulated in response to rehydration. All genes examined, except VATPase, were upregulated in response to overhydration. The midge larvae are thus responding quickly to water loss and gain by expressing genes that encode proteins contributing to maintenance of proper protein function, protection and overall cell homeostasis during times of osmotic flux, a challenge that is particularly acute in this Antarctic environment.

  12. A new type of dehydration unit of natural gas and its design considerations

    Institute of Scientific and Technical Information of China (English)

    LIU Hengwei; LIU Zhongliang; ZHANG Jian; GU Keyu; YAN Tingmin

    2005-01-01

    A new type of dehydration unit for natural gas is described and its basic structure and working principles are presented.The key factors affecting the performance and dehydration efficiency of the unit such as nucleation rate, droplet growth rate, the strength of the swirl, and the position at which the shock wave occurs are discussed. And accordingly the design considerations of each component of the unit are provided. Experimental investigations on the working performance of the unit justified the design considerations.

  13. Unchanged binding of /sup 99/Molybdenum to red cell membrane proteins in hereditary spherocytosis

    Energy Technology Data Exchange (ETDEWEB)

    Marik, T.; Kselikova, M.; Bibr, B.; Brabec, V.; Lener, J. (Ceskoslovenska Akademie Ved, Prague. Ustav Nuklearni Biologie a Radiochemie; Institut Hygieny a Epidemiologie, Prague (Czechoslovakia))

    1983-01-01

    The interaction of /sup 99/Mo with red cell membrane proteins was found specific for spectrin both in normal red cells and those of hereditary spherocytosis. In addition, no significant quantitative differences were observed in labelling patterns between these two types of red cells, thus indicating no major alterations in the spectrin molecules of hereditary spherocytosis.

  14. A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

    NARCIS (Netherlands)

    Spruijt, L.; Smeets, H.J.M.; Hendrickx, A.; Bettink-Remeijer, M.W.; Maat-Kievit, A.; Schoonderwoerd, K.C.; Sluiter, W.; Coo, I.F.M. de; Hintzen, R.Q.

    2007-01-01

    OBJECTIVE: To report a novel mutation that is associated with Leber hereditary optic neuropathy (LHON) within the same family affected by spastic dystonia. DESIGN: Leber hereditary optic neuropathy is a mitochondrial disorder characterized by isolated central visual loss. Of patients with LHON, 95%

  15. Estimation of EuroQol 5-Dimensions health status utility values in hereditary angioedema

    DEFF Research Database (Denmark)

    Aygören-Pürsün, Emel; Bygum, Anette; Beusterien, Kathleen;

    2016-01-01

    OBJECTIVE: To estimate health status utility (preference) weights for hereditary angioedema (HAE) during an attack and between attacks using data from the Hereditary Angioedema Burden of Illness Study in Europe (HAE-BOIS-Europe) survey. Utility measures quantitatively describe the net impact of a...

  16. Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract

    DEFF Research Database (Denmark)

    Hansen, Lars; Mikkelsen, Annemette; Nürnberg, Peter

    2009-01-01

    PURPOSE: Identification of the causal mutations in 28 unrelated families and individuals with hereditary congenital cataract identified from a national Danish register of hereditary eye diseases. Seven families have been published previously, and the data of the remaining 21 families are presente...

  17. An effect from anticipation also in hereditary nonpolyposis colorectal cancer families without identified mutations

    DEFF Research Database (Denmark)

    Timshel, Susanne; Therkildsen, Christina; Bendahl, Pär-Ola

    2009-01-01

    Optimal prevention of hereditary cancer is central and requires initiation of surveillance programmes and/or prophylactic measures at a safe age. Anticipation, expressed as an earlier age at onset in successive generations, has been demonstrated in hereditary nonpolyposis colorectal cancer (HNPCC...

  18. A family with hereditary ankyloglossia complicated by heterochromia irides and a congenital clasped thumb.

    Science.gov (United States)

    Sato, T; Iida, M; Yamaguchi, Y

    1983-10-01

    We experienced a family with hereditary ankyloglossia complicated by heterochromia irides and a congenital clasped thumb. This is considered to be a rare case because, to our knowledge, there have been no published reports on such cases of hereditary complications to date.

  19. Surveillance for hereditary nonpolyposis colorectal cancer - A long-term study on 114 families

    NARCIS (Netherlands)

    Cappel, WHDTN; Nagengast, FM; Griffioen, G; Menko, FH; Taal, BG; Kleibeuker, JH; Vasen, HF

    2002-01-01

    PURPOSE: Hereditary nonpolyposis colorectal cancer is caused by germline mutations in DNA mismatch repair genes. Mutation carriers have a 60 to 85 percent risk of developing colorectal cancer. In the Netherlands hereditary nonpolyposis colorectal cancer families are monitored in an intensive

  20. A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

    NARCIS (Netherlands)

    Spruijt, L.; Smeets, H.J.M.; Hendrickx, A.; Bettink-Remeijer, M.W.; Maat-Kievit, A.; Schoonderwoerd, K.C.; Sluiter, W.; Coo, I.F.M. de; Hintzen, R.Q.

    2007-01-01

    OBJECTIVE: To report a novel mutation that is associated with Leber hereditary optic neuropathy (LHON) within the same family affected by spastic dystonia. DESIGN: Leber hereditary optic neuropathy is a mitochondrial disorder characterized by isolated central visual loss. Of patients with LHON, 95%