prader willi syndrome from molecular testing and clinical study to diagnostic protocols

báo cáo hóa học: " Clinical implications of gait analysis in the rehabilitation of adult patients with "Prader-Willi" Syndrome: a cross-sectional comparative study ("Prader-Willi" Syndrome vs matched obese patients and healthy subjects)" docx

báo cáo hóa học: " Clinical implications of gait analysis in the rehabilitation of adult patients with "Prader-Willi" Syndrome: a cross-sectional comparative study ("Prader-Willi" Syndrome vs matched obese patients and healthy subjects)" docx

Ngày tải lên : 19/06/2014, 10:20
... Hortobagyi T: Obesity is not associated with increase knee joint torque and power during level walking J of Biomech 2003, 36:1355-1362 Butler M, Thompson T: Prader- Willi syndrome: clinical and ... Schoeller DA, Levitsky LL, Bandini LG, Dietz WW, Walczak A: Energy expenditure and body composition in Prader- Willi syndrome Metabolism 1988, 37:115-120 Cassidy SB: Prader- Willi syndrome Journal of Medical ... hormone therapy in the Prader- Willi syndrome Archives of Disease in Childhood 2003, 88:283-5 Hudgins LH, McKillop JA, Cassidy SB: Hand and foot lengths in Prader- Willi syndrome Am J Med Genet...
  • 7
  • 531
  • 0
Báo cáo hóa học: " Fractal dimension approach in postural control of subjects with Prader-Willi Syndrome" pot

Báo cáo hóa học: " Fractal dimension approach in postural control of subjects with Prader-Willi Syndrome" pot

Ngày tải lên : 19/06/2014, 08:20
... Crivellini M, Grugni G: Clinical implications of gait analysis in the rehabilitation of adult patients with Prader- Willi Syndrome: a cross-sectional comparative study ( "Prader- Willi Syndrome vs matched ... Whittington JE, Holland AJ, Webb T, Butler J, Clarke D, Boer H: Population prevalence and estimated birth incidence and mortality rate for people 25 26 27 28 29 30 31 32 33 with Prader- Willi syndrome ... Albertini G, Rigoldi C, Capodaglio P: The effects of muscle hypotonia and weakness on balance: A study on Prader- Willi and Ehlers-Danlos syndrome patients Research in Developmental Disabilities 2011,...
  • 6
  • 365
  • 0
Báo cáo y học: "HIV-associated adipose redistribution syndrome (HARS): definition, epidemiology and clinical impact" ppt

Báo cáo y học: "HIV-associated adipose redistribution syndrome (HARS): definition, epidemiology and clinical impact" ppt

Ngày tải lên : 10/08/2014, 05:20
... legs, and/ or buttocks Although the combination of visceral adiposity and metabolic disturbances is not unique to HIV, the pathogenesis and clinical presentation appear to differ from those of "standard" ... peripheral lipoatrophy from 22% to 38%, and any central fat accumulation from 18% to 45% The highest estimates in the ranges reported by Tien and Grunfeld, however, all came from one study, relying on ... accumulation and loss in HIVinfected patients, and offered prevalence estimates of 1% to 56% for fat accumulation, 1% to 24% for regional loss of fat, and 2% to 83% for the pooled lipodystrophy syndromes...
  • 10
  • 361
  • 0
Báo cáo y học: "Periodontal disease in a patient with Prader-Willi syndrome: a case report" pps

Báo cáo y học: "Periodontal disease in a patient with Prader-Willi syndrome: a case report" pps

Ngày tải lên : 10/08/2014, 23:22
... The Prader- Willi syndrome Arch Dis Child 1994, 70:58-63 Bittel DC, Butler MG: Prader- Willi syndrome: clinical genetics, cytogenetics and molecular biology Exp Rev Mol Med 2005, 7:1-20 Goldstone ... the teeth and difficulties with hand and wrist movements inhibited adequate plaque control After three visits to the clinic our patient had become accustomed to the dental treatment, and subgingival ... of the mandibular first molars were present Pocket depths ranged from mm to mm Mobility grade was present in the mandibular left second premolar We tried to measure the pocket depth and clinical...
  • 5
  • 365
  • 0
Báo cáo y học: " Identification of unique reciprocal and non reciprocal cross packaging relationships between HIV-1, HIV-2 and SIV reveals an efficient SIV/HIV-2 lentiviral vector system with highly favourable features for in vivo testing and clinical usa

Báo cáo y học: " Identification of unique reciprocal and non reciprocal cross packaging relationships between HIV-1, HIV-2 and SIV reveals an efficient SIV/HIV-2 lentiviral vector system with highly favourable features for in vivo testing and clinical usa

Ngày tải lên : 13/08/2014, 09:21
... lentiviral vector production and measures to increase the packaging efficiency and to reduce self packaging of the Gag-Pol or other helper construct have contributed to increased vector titre and biosafety ... extends into the first coding exons of Tat and Rev thus both of these vectors will be defective for these regulatory proteins and they are closely comparable to the HIV-1 and SIV vectors used ... vector system (1/10) and the SIV Gag-pol + HIVGFP vector system (1/10, data not shown) The ability of HIV-2 Gag-Pol to cross package HIV-1 and SIV vector RNA is significantly reduced compared to...
  • 14
  • 437
  • 0
Báo cáo y học: "The Hoover''''s Sign of Pulmonary Disease: Molecular Basis and Clinical Relevance" docx

Báo cáo y học: "The Hoover''''s Sign of Pulmonary Disease: Molecular Basis and Clinical Relevance" docx

Ngày tải lên : 13/08/2014, 13:22
... other clinical parameters, blood gases or peak expiratory flow tests is likely to assist in patient triage and management in emergency settings We present a review of the clinical and molecular/ structural ... historically and numbers of prescribed drugs were independently associated with the sign [3] Page of (page number not for citation purposes) Clinical and Molecular Allergy 2008, 6:8 http://www.clinicalmolecularallergy.com/content/6/1/8 ... (page number not for citation purposes) Clinical and Molecular Allergy 2008, 6:8 http://www.clinicalmolecularallergy.com/content/6/1/8 With A Figure showing PA and B showing lateral views of the chest...
  • 5
  • 374
  • 0
Báo cáo y học: " Bench-to-bedside review: Molecular pharmacology and clinical use of inert gases in anesthesia and neuroprotection" ppt

Báo cáo y học: " Bench-to-bedside review: Molecular pharmacology and clinical use of inert gases in anesthesia and neuroprotection" ppt

Ngày tải lên : 13/08/2014, 20:22
... receptors, triggers biochemical cascades that ultimately lead to neuronal cell death This neurotoxicity due to overactivation of NMDA receptors was termed excitotoxicity by Olney [72], and is ... appear to be sensitive to xenon are neuronal nicotinic acetylcholine (nACh) receptors and 5-hydroxytryptamine type (5-HT3) receptors Neuronal nACh receptors, composed of α4β2 subunits, and homomeric ... Figures adapted from: (a) Fries and colleagues [78], (b) Homi and colleagues [5], (c) Ma and colleagues [75], and (d) Coburn and colleagues [77] the plasmalemmal KATP channel blocker tolbutamide...
  • 12
  • 287
  • 0
Tài liệu Báo cáo khoa học: "Bilingual Terminology Acquisition from Comparable Corpora and Phrasal Translation to Cross-Language Information Retrieval" pptx

Tài liệu Báo cáo khoa học: "Bilingual Terminology Acquisition from Comparable Corpora and Phrasal Translation to Cross-Language Information Retrieval" pptx

Ngày tải lên : 20/02/2014, 16:20
... phrases and will provide 1999) In the present study, the WWW is exploited an access to documents related to the phrase in order to re-score the set of translation candidates related to the source ... metric Next, context vectors related to source words are translated using a preliminary bilingual seed lexicon Similarity vectors SIMS→T and SIMT →S related to the first and second models respectively, ... vectors SIM S→T - Bilingual terminology acquisition from target language to source language to yield a second translation model, represented by similarity vectors SIMT →S - Merge the first and...
  • 4
  • 377
  • 0
Báo cáo Y học: Properties of group I allergens from grass pollen and their relation to cathepsin B, a member of the C1 family of cysteine proteinases pdf

Báo cáo Y học: Properties of group I allergens from grass pollen and their relation to cathepsin B, a member of the C1 family of cysteine proteinases pdf

Ngày tải lên : 08/03/2014, 22:20
... regions was 21%, and the combined identity and similarity amounted to 34% The identity between Hol l and CP2 was  22%, between Phl p and CP1 as well as CP3 19%, and between Phl p and CatB  15% ... dithiothreitol) and 0.3 mU N-glycosidase A were added to 10 lL expression supernatant (25 lg total protein) and incubated at 37 °C overnight Buffer alone served as the negative control Deglycosylated and ... Baculovirus expression of rPhl p and rPhl p 1*His104 Sequences coding for rPhl p as well as rPhl p 1*His were released from pBS or pGEM and ligated into the expression vector pAcSecG2T (Pharmingen,...
  • 10
  • 535
  • 0
Báo cáo lâm nghiệp: "Reconstructing crown shape from stem diameter and tree position to supply light models. I. Algorithms and comparison of light simulations" doc

Báo cáo lâm nghiệp: "Reconstructing crown shape from stem diameter and tree position to supply light models. I. Algorithms and comparison of light simulations" doc

Ngày tải lên : 08/08/2014, 00:22
... cancelled and it is removed from the allowed -to- expand radii list (2.d.ii) For each height level h, crown sectors at height h are computed and stored for the considered crown, according to the new ... allowed-toexpand), and they are removed from the allow -to- expand list Each intersection test is thus computed in a horizontal plane (at the considered height level) between two ellipse-sectors, one from ... buffer area brings the surface area of Plots and to 2.22 and 0.67 ha, respectively, and the second buffer area brings the surface area of Plots and to 3.58 and 1.44 ha, respectively 2.2 Light measurements...
  • 13
  • 353
  • 0
Báo cáo khoa học: " Verifying 4D gated radiotherapy using time-integrated electronic portal imaging: a phantom and clinical study" potx

Báo cáo khoa học: " Verifying 4D gated radiotherapy using time-integrated electronic portal imaging: a phantom and clinical study" potx

Ngày tải lên : 09/08/2014, 10:21
... phantom and performed with J.vSdK and J.C all the phantom measurements F.L analysed the study data and prepared the final manuscript, and B.S was involved in study design and drafting of the manuscript ... fiducials with systematic and random errors ranging from to mm [18] Improved imaging techniques are the subject of active research, and we plan to use our cone-beam CT in order to perform RPM-triggered ... would reveal time-related positional information for mobile objects Phantom study A standard respiratory motion phantom tool (GE Varian 4D solutions) was modified with an AC/DC device that allowed...
  • 9
  • 369
  • 0
Biofilms in water separation membrane processes  from community structure and ecological characteristics to monitoring and control

Biofilms in water separation membrane processes from community structure and ecological characteristics to monitoring and control

Ngày tải lên : 12/09/2015, 08:19
... comprehensive understanding into the biology of biofilms associated with water purification membranes (MF and RO), and to address the inadequacies of current biofilm monitoring and control strategies ... effluent from a bioreactor was investigated using a polyphasic approach combining molecular techniques and bacterial isolation The dominant biofilm populations were found to be related to members ... assumed to be similar to the biofouling layer as they are subjected to the same environmental and hydraulic conditions However, biofilm sampling from the Robbins device is potentially destructive and...
  • 252
  • 298
  • 0
Báo cáo hóa học: "Gait patterns in Prader-Willi and Down syndrome patients" potx

Báo cáo hóa học: "Gait patterns in Prader-Willi and Down syndrome patients" potx

Ngày tải lên : 19/06/2014, 08:20
... MG: Prader- Willi syndrome Clinical genetics, cytogenetics and molecular biology Expert Rev Mol Med 2005, 7:1-20 Theodoro MF, Talebizadeh Z, Butler MG: Body composition and fatness patterns in Prader- Willi ... 6:177-90 Proto C, Romualdi D, Cento RM, Romano C, Campagna G, Lanzone A: Free and total leptin serum levels and soluble leptin receptors levels in two models of genetic obesity: the Prader- Willi and ... the rehabilitation of adult patients with "Prader- Willi" Syndrome: a cross-sectional comparative study ( "Prader- Willi" Syndrome vs matched obese patients and healthy subjects) J Neuroeng Rehabil...
  • 8
  • 372
  • 0
Báo cáo khoa học: " Molecular fingerprinting of clinical isolates of Mycobacterium bovis and Mycobacterium tuberculosis from India by restriction fragment length polymorphism (RFLP)" pdf

Báo cáo khoa học: " Molecular fingerprinting of clinical isolates of Mycobacterium bovis and Mycobacterium tuberculosis from India by restriction fragment length polymorphism (RFLP)" pdf

Ngày tải lên : 07/08/2014, 18:20
... sputum Standard strain standard strain *All the strains used in the study were isolated and characterized at Mycobacteria Laboratory, IVRI, Izatnagar (India) and were derived from animals/human from ... [12,17,21] The present study, was carried out to characterize clinical isolates of M bovis and M tuberculosis isolated from animals and human in India by using IS 6110 and IS 1081 sequence polymorphism ... be transmitted from human to human [1], human to animal [9], animal to human [4] and animal to animal [12] In a tuberculosis outbreak of human or animal, it is often important to establish the...
  • 5
  • 225
  • 0
Báo cáo y học: "Molecular characterization of hepatitis A virus isolates from environmental and clinical samples in Greece" pptx

Báo cáo y học: "Molecular characterization of hepatitis A virus isolates from environmental and clinical samples in Greece" pptx

Ngày tải lên : 12/08/2014, 01:21
... same protocol from all samples (environmental and clinical) by employing previously validated primer sets [9] Sequencing and analysis of viral genomes All positive samples (environmental and clinical) ... PAT76, PAT87), the sewage sample from Alexandroupoli (ALEef) and the clinical strains from the cities of Komotini (KOM94, KOM89, KOM64), Xanthi (XAN64, XAN65) and Alexandroupoli (ALE 05, ALE10), showed ... Komotini and Xanthi Methods Sewage samples A total of one hundred (100) sewage samples were collected from the biological treatment plants of two large Greek towns, Patras (SW Greece) and Alexandroupolis...
  • 5
  • 355
  • 0
Tài liệu Báo cáo khoa học: Molecular modeling and functional characterization of the monomeric primase–polymerase domain from the Sulfolobus solfataricus plasmid pIT3 doc

Tài liệu Báo cáo khoa học: Molecular modeling and functional characterization of the monomeric primase–polymerase domain from the Sulfolobus solfataricus plasmid pIT3 doc

Ngày tải lên : 18/02/2014, 18:20
... domain S Prato et al Zn-binding motif and the two disulfide bonds respectively connecting the a4-helix to the b4 strand and the b9 strand to the b10 strand at the bottom of the Zn-stem loop in the pRN1 ... motif is mutated to glutamate [22] Thanks to the modular architecture of the replication protein from the pIT3 plasmid, we were able to design Rep245 and Rep516 truncated proteins and to characterize ... synthesis and its elongation and, hence, the autonomy of the plasmid from the host replication apparatus This is particularly important for environmental plasmid survival and transfer into new hosts...
  • 14
  • 620
  • 0
Tài liệu Báo cáo khoa học: Preliminary molecular characterization and crystallization of mitochondrial respiratory complex II from porcine heart ppt

Tài liệu Báo cáo khoa học: Preliminary molecular characterization and crystallization of mitochondrial respiratory complex II from porcine heart ppt

Ngày tải lên : 19/02/2014, 02:20
... heme a3 and CuB by means of protons extracted from the matrix side of the mitochondrial inner membrane and electrons from the cytochrome c complex, in a reaction that is coupled with proton pumping ... small molecule to modulate the interaction between membrane protein and detergent Results and Discussion The mitochondrial respiratory complex II preparation was extracted and purified from porcine ... transport chain in mitochondria generates an electron-chemical proton potential gradient across the inner membrane, and this gradient is harnessed by ATP synthase to make ATP from ADP and Pi Complex...
  • 6
  • 469
  • 0
Báo cáo Y học: Molecular cloning and characterization of isomultiflorenol synthase, a new triterpene synthase from Luffa cylindrica, involved in biosynthesis of bryonolic acid ppt

Báo cáo Y học: Molecular cloning and characterization of isomultiflorenol synthase, a new triterpene synthase from Luffa cylindrica, involved in biosynthesis of bryonolic acid ppt

Ngày tải lên : 08/03/2014, 23:20
... underlined) and 50 -CCTCTAGAGTA AAAGTCTCCAATC-30 (Xba I site underlined) were used to modify the cDNA The PCR product was digested with Kpn I and Xba I, and ligated to the sites of pYES2 (Invitrogen), to ... Laboratory Ltd, Koriyama, Japan); column temperature, 200 – 300 8C (20 8C·min21); injector and detector temperature, 320 8C; carrier gas, He 3.5 mL·min21 The contents of bryonolic acid and total ... -GAAGCATA TCCACTATGAAGATGA-30 and 50 -TGAATACTCCCGTG ATTTCCTGTTG-30 , and DIG – dNTP mixture (Roche Diagnostics), according to the manufacturer’s manual The cDNA library prepared from cultured Luffa cells...
  • 7
  • 491
  • 1
PREDICTION OF CHEMICAL REACTIVITY PARAMETERS AND PHYSICAL PROPERTIES OF ORGANIC COMPOUNDS FROM MOLECULAR STRUCTURE USING SPARC pptx

PREDICTION OF CHEMICAL REACTIVITY PARAMETERS AND PHYSICAL PROPERTIES OF ORGANIC COMPOUNDS FROM MOLECULAR STRUCTURE USING SPARC pptx

Ngày tải lên : 22/03/2014, 14:20
... another substituent to C, and thus functions as a "conductor" for the second substituent The i and j denote anchor atoms in R for S and C, respectively For each reaction center and substituent, ... approaches such as ab initio [33, 34] and semiempirical [35, 36] methods The energy differences between the protonated and the unprotonated states are small compared to the total binding energies of the ... providing chemical and physical properties to Program Offices (e.g., Office of Water, Office of Solid Waste and Emergency Response, Office of Prevention, Pesticides and Toxic Substances) and Regional...
  • 158
  • 631
  • 0

Xem thêm