Mild form
Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome
... Our patient presented with a mild slow progressing my- opathy. Extraskeletal muscle manifestations pointed to- ward a syndromic myopathy rather than an isolated muscle disease. At the age of 69 years, he remains ...
5
Intracellular Evaluation of ER Targeting Elucidates a Mild Form of Inherited Coagulation Deficiency
... Missense mutations reduce protein levels through several molecular mechanisms. Among them, altered targeting to endo- plasmic reticulum (ER) and its relationship with clinical phenotypes in patients have been poorly ...
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A mild form of dermatomyositis as a prodromal sign of lung adenocarcinoma: a case report
... Our patient, however, was a woman who was a cigarette smoker which differs from the abovementioned data given from the literature. She had an unusual mani- festation of a lung adenocarcinoma with a mild dermato- ...
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A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature
... Case presentation: We present a Danish family with bilateral brain calcifications and mild clinical symptoms of primary familial brain calcification, segregating with a novel PDGFRB sequence variant: c.1834G > ...
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A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing
... ADSL deficiency is a rare autosomal recessive progressive disorder with central nervous system involvement. The disease manifests symptoms along a continuum ranging from a neonatal lethal condition to a milder slowing ...
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Gait kinematic analysis in patients with a mild form of central cord syndrome
... The results of our study reveal that not only do patients with CCS walk at a slower speed but also, that they display a series of kinematic alterations such as a smaller range of movemen[r] ...
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Lung Function and Organ Dysfunctions in 178 Patients Requiring Mechanical Ventilation During The 2009 Influenza A (H1N1) Pandemic
... a mild form of the disease was prevalent, it soon became evident that the 2009 influenza A (H1N1) virus could also pro- voke severe, acute respiratory failure requiring admis- sion to the intensive care ...
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Case Report Osteogenesis Imperfecta
... Osteogenesis Imperfecta (OI) also known as brittle bone disease or 'LOBSTEIN SYNDROME” is a genetic connective tissue disorder. It is characterized by fragile bones that fracture easily without a triggering event. The ...
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THE CRITICALLY ILL CHILD: ACUTE HEPATIC FAILURE
... response of the child in hepatic coma will depend on the severity of the liver disease and the presence of complications. In the. mild form agitation and confusion are[r] ...
8
Key words
... a mild form of the disease (< 5 points), 14 pa- tients, mean age ...moderate form (≥ 5 to < 9 points) and only 1 patient, during the period of study, with severe disease activity (≥ 9 ...the ...
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Wearing High Heel and Planter Fasciitis: MRI Evaluation
... other bony lesions as enthesopathy, spurs & tarsal tunnel syndrome, also of the 20 control cases one case showed mild edema denoting mild form of plantar fascitis. In the [r] ...
5
Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency
... (c.[902T>C]; p.[Leu301Pro]). However, 15 days later, a control sample revealed no signs of 5-oxoprolinuria and the clinical history discovered administration of acetaminophen in the 48 hours before hospitalization. ...
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MentalDisorders - Collins.ppt
... • Some people believe that schizotypal personality disorder is a mild form of schizophrenia... Avoidant personality disorder.[r] ...
98
Disorders of Cortical Formation: MR Imaging Features
... Periventricular (subependymal) heterotopias (PVH) are lo- cated in close proximity to the ventricular wall. They are com- monly seen in the region of the trigone and occipital horns of the lateral ventricles. PVH are ...
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On the Tamagawa Number Conjecture for motives attached to modular forms
... The subject of this thesis is the TNC in the case Beilinson studied, when X is associated to a modular form. Because the conjectures involve K-groups, which are not known to be finitely generated in any reasonable ...
80
Proteus Syndrome: Report of Two Cases With Pelvic Lipomatosis
... There was thickening and mild gyri- form convolutions of the skin over the dorsum and plan- tar aspects of the left foot, the distal right arm, and palmar aspect of the left hand.. Findi[r] ...
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The effect of solvent choice on the mechanical properties of carbon nanotube polymer composites
... Purified single-walled nanotubes (HiPCO) were purchased from Carbon Nanotechnologies, Inc., and used without further treatment (lot no. PO342). N-methyl-2-pyrrolidone (NMP) (Product number: 242799) was purchased from ...
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The Behaviour of Steels in Atmospheres Containing CO and H2 and the Effect of Pretreatment and Gaseous Additives EUR 4691
... It was found that in these conditions mild steels, steels with low Cr-content and ferritic steels tend to form carbon deposits whereas austenitic steels and Ni-based alloys undergo super[r] ...
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THERAPEUTIC POTENTIALS OF SUDHA VARGA DRAVYAS VIS -A-VIS CALCIUM COMPOUNDS: A REVIEW
... Kukkutanda twak bhasma is an excellent asthi mamsa dhatu poshaka and vardhaka as well as rasayana and vajikarana. Bhasma is prepared by heating the kukkutanda twak in the medium of changeri (Oxalis corniculata Linn.) / ...
5
Comparative Analysis of Pediatric and Adult Leptospirosis in Pleven Region, Bulgaria
... common mild, anicteric form is characterized by nonspecific symptoms such as fever, headache, chills, myalgia, nausea and abdominal ...fatal form (Weil’s disease) typically presenting as triad of ...
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