Piga | Svensk Porr

Piga | Svensk Porr

Footer links

Contact Us

Website Policies

facebook
twitter
linkedin
youtube
rss

PIGA-congenital disorder of glycosylation (PIGA-CDG, also known as phosphatidylinositol-glycan class A protein deficiency or Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2). It belongs to a group of disorders called Glycosylphosphatidylinositol (GPI-) anchor defects.
PIGA-CDG is an extremely rare genetic disorder impacting children from birth. The symptoms of PIGA-CDG are wide-ranging in both scope and severity. Not all children with PIGA-CDG may exhibit all symptoms and some children will exhibit additional symptoms. Children with PIGA-CDG often have global developmental delays, seizures (e.g., infantile spasms, myoclonic), respiratory complications, muscle tone abnormalities (hypotonia, hypertonia, dystonia), cortical visual impairment (CVI), gastrointestinal issues (e.g., slow motility), sleep disorders, difficulty swallowing leading to aspiration, delayed myelination (which can be seen on MRIs). There are close to 100 individuals with PIGA-CDG published in the medical literature.
PIGA-CDG is usually diagnosed through genetic blood tests, either as part of an epilepsy panel or through whole exome sequencing. PIGA-CDG can also be identified by testing for the presence of GPI-anchored proteins on the surface of granulocytes (a subset of white blood cells). This can be tested by a method called flow cytometry in the patient’s blood.
Patients have been found all over the world, so the mutation does not appear to be concentrated in any given area or confined to certain ethnicities. However, only males have been found to show symptoms of the PIGA mutation because the mutation is X-linked (located on the X chromosome).
To date, there are no known specific treatment options for PIGA-CDG, though a PIGA-CDG gene therapy treatment is currently under investigation in early pre-clinical research studies. Most current treatments are aimed at symptom management. In some patients, seizures are treatable with antiepileptic medication, but in many, epilepsy is difficult to treat and some patients have severe neonatal onset epileptic encephalopathy. Moreover, many children with PIGA-CDG end up requiring a feeding tube to help reduce the chance of aspiration due to swallowing issues and muscle tone abnormalities. Those diagnosed with PIGA-CDG often have a lower life expectancy, with many patients passing away early in life due to respiratory complications brought on by the mutation.
The Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI). FCDGC is funded under grant number U54NS115198 as a collaboration between NCATS, the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the Office of Dietary Supplements (ODS). This website is hosted by the network’s Data Management and Coordinating Center at Cincinnati Children’s Hospital Medical Center, which is funded by NCATS and NINDS under grant number TR002818.

A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z

A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z

Afrikaans
Albanian
Amharic
Arabic
Armenian
Azerbaijani
Basque
Belarusian
Bengali
Bosnian
Bulgarian
Catalan
Cebuano
Chichewa
Chinese
Corsican
Croatian
Czech
Danish
Dutch
Esperanto
Estonian
Farsi
Filipino
Finnish
French
Frisian
Galician
Georgian
German
Greek
Gujarati
Haitian Creole
Hausa
Hebrew
Hindi
Hmong
Hungarian
Icelandic
Igbo
Indonesian
Irish
Italian
Japanese
Javanese
Kannada
Kazakh
Khmer
Korean
Kurdish
Kyrgyz
Lao
Latin
Latvian
Lithuanian
Luxembourgish
Macedonian
Malagasy
Malay
Malayalam
Maltese
Maori
Marathi
Mongolian
Burmese
Nepali
Norwegian
Polish
Portuguese
Punjabi
Romanian
Russian
Samoan
Scots Gaelic
Serbian
Sesotho
Shona
Sinhala
Slovak
Slovenian
Somali
Spanish
Sundanese
Swahili
Swedish
Tajik
Tamil
Telugu
Thai
Turkish
Ukrainian
Urdu
Uzbek
Vietnamese
Welsh
Xhosa
Yiddish
Yoruba
Zulu

All Words
2-Letter Words
3-Letter Words
4-Letter Words
5-Letter Words
6-Letter Words
7-Letter Words
8-Letter Words
9-Letter Words
10-Letter Words
11-Letter Words
12-Letter Words
13-Letter Words
14-Letter Words

Starting With
Ending With
Containing Exactly
Containing the Letters
Words With Friends
Scrabble
Crossword / Codeword

Use * for blank tiles (max 2)
Use * for blank spaces
Advanced Word Finder

Plural
Singular
Past Tense
Present Tense
Verb
Adjective
Adverb
Noun

Afrikaans
Albanian
Arabic
Bengali
Chinese
Croatian
Czech
Danish
Dutch
English
Finnish
French
German
Greek
Hindi
Hungarian
Icelandic
Indonesian
Italian
Japanese
Korean
Latin
Malay
Malayalam
Marathi
Nepali
Norwegian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Spanish
Swahili
Swedish
Tamil
Telugu
Thai
Turkish
Ukrainian
Uzbek
Vietnamese
Welsh

Meaning of the name
Origin of the name
Names meaning
Names starting with
Names of origin

Another word for
Opposite of
Meaning of
Rhymes with
Sentences with

Find word forms

Translate from English
Translate to English

Words With Friends
Scrabble
Crossword / Codeword
Words starting with
Words ending with
Words containing exactly
Words containing letters

Pronounce

Find conjugations

Find names

From Afrikaans
From Albanian
From Amharic
From Arabic
From Armenian
From Azerbaijani
From Basque
From Belarusian
From Bengali
From Bosnian
From Bulgarian
From Catalan
From Cebuano
From Chichewa
From Chinese
From Corsican
From Croatian
From Czech
From Danish
From Dutch
From Esperanto
From Estonian
From Farsi
From Filipino
From Finnish
From French
From Frisian
From Galician
From Georgian
From German
From Greek
From Gujarati
From Haitian Creole
From Hausa
From Hebrew
From Hindi
From Hmong
From Hungarian
From Icelandic
From Igbo
From Indonesian
From Irish
From Italian
From Japanese
From Javanese
From Kannada
From Kazakh
From Khmer
From Korean
From Kurdish
From Kyrgyz
From Lao
From Latin
From Latvian
From Lithuanian
From Luxembourgish
From Macedonian
From Malagasy
From Malay
From Malayalam
From Maltese
From Maori
From Marathi
From Mongolian
From Burmese
From Nepali
From Norwegian
From Polish
From Portuguese
From Punjabi
From Romanian
From Russian
From Samoan
From Scots Gaelic
From Serbian
From Sesotho
From Shona
From Sinhala
From Slovak
From Slovenian
From Somali
From Spanish
From Sundanese
From Swahili
From Swedish
From Tajik
From Tamil
From Telugu
From Thai
From Turkish
From Ukrainian
From Urdu
From Uzbek
From Vietnamese
From Welsh
From Xhosa
From Yiddish
From Yoruba
From Zulu

To Afrikaans
To Albanian
To Amharic
To Arabic
To Armenian
To Azerbaijani
To Basque
To Belarusian
To Bengali
To Bosnian
To Bulgarian
To Catalan
To Cebuano
To Chichewa
To Chinese
To Corsican
To Croatian
To Czech
To Danish
To Dutch
To Esperanto
To Estonian
To Farsi
To Filipino
To Finnish
To French
To Frisian
To Galician
To Georgian
To German
To Greek
To Gujarati
To Haitian Creole
To Hausa
To Hebrew
To Hindi
To Hmong
To Hungarian
To Icelandic
To Igbo
To Indonesian
To Irish
To Italian
To Japanese
To Javanese
To Kannada
To Kazakh
To Khmer
To Korean
To Kurdish
To Kyrgyz
To Lao
To Latin
To Latvian
To Lithuanian
To Luxembourgish
To Macedonian
To Malagasy
To Malay
To Malayalam
To Maltese
To Maori
To Marathi
To Mongolian
To Burmese
To Nepali
To Norwegian
To Polish
To Portuguese
To Punjabi
To Romanian
To Russian
To Samoan
To Scots Gaelic
To Serbian
To Sesotho
To Shona
To Sinhala
To Slovak
To Slovenian
To Somali
To Spanish
To Sundanese
To Swahili
To Swedish
To Tajik
To Tamil
To Telugu
To Thai
To Turkish
To Ukrainian
To Urdu
To Uzbek
To Vietnamese
To Welsh
To Xhosa
To Yiddish
To Yoruba
To Zulu

Afrikaans Word
Albanian Word
Arabic Word
Bengali Word
Chinese Word
Croatian Word
Czech Word
Danish Word
Dutch Word
English Word
Finnish Word
French Word
German Word
Greek Word
Hindi Word
Hungarian Word
Icelandic Word
Indonesian Word
Italian Word
Japanese Word
Korean Word
Latin Word
Malay Word
Malayalam Word
Marathi Word
Nepali Word
Norwegian Word
Polish Word
Portuguese Word
Romanian Word
Russian Word
Serbian Word
Slovak Word
Spanish Word
Swahili Word
Swedish Word
Tamil Word
Telugu Word
Thai Word
Turkish Word
Ukrainian Word
Uzbek Word
Vietnamese Word
Welsh Word

All words
2-letter words
3-letter words
4-letter words
5-letter words
6-letter words
7-letter words
8-letter words
9-letter words
10-letter words
11-letter words
12-letter words
13-letter words
14-letter words

Plural of
Singular of
Past tense of
Present tense of
Verb for
Adjective for
Adverb for
Noun for

Meaning of name
Origin of name
Names meaning
Names starting with
Names of origin

Use * for blank tiles (max 2)
Advanced Search
Advanced Search

Use * for blank spaces
Advanced Search

If you’ve come here by way of the fundraising campaign (https://secure.givelively.org/donate/cdg-care/help-us-fund-a-cure-for-piga-cdg), thank you and welcome! This campaign was born from a lot of different things…
In addition to the fundraising campaign, we’re so excited to announce the launch of Emmett’s Legacy Fund, an annual fund designed to provide funding for
Featured on CDG Care’s website: CDG Care has awarded approximately $60,000 to the Abigail Wexner Research Institute (AWRI) at Nationwide Children’s Hospital in Columbus, Ohio
Check out our new whiteboard video (sponsored by us and created by Youreka Science) overviewing PIGA-CDG.
Featured in CDG Care’s November 2018 Newsletter (Volume 6): CDG CARE and researchers from Osaka University in Japan are furthering their partnership to find effective
The Chow Lab (in the Department of Human Genetics at the University of Utah School of Medicine) is working on modeling PIGA mutations using fly
PIGA-CDG.org was created to help parents, caregivers and medical professionals learn more about this rare genetic mutation, and as a place to share different experiences and challenges when dealing with this disorder.
Questions? Comments? Want to say hello? Leave us a message here . We’d love to hear from you.

From Wikipedia, the free encyclopedia
Pendulous Integrating Gyroscopic Accelerometer, an inertial guidance instrument
Welcome to a sneak preview of the new design for Wikipedia!
We would love your feedback on our changes
A PIGA ( Pendulous Integrating Gyroscopic Accelerometer ) is a type of accelerometer that can measure acceleration and simultaneously integrates this acceleration against time to produce a speed measure as well. The PIGA's main use is in Inertial Navigation Systems (INS) for guidance of aircraft and most particularly for ballistic missile guidance. It is valued for its extremely high sensitivity and accuracy in conjunction with operation over a wide acceleration range. The PIGA is still considered the premier instrument for strategic grade missile guidance, though systems based on MEMS technology are attractive for lower performance requirements.

The sensing element of a PIGA is a pendulous mass, free to pivot by being mounted on a bearing. A spinning gyroscope is attached such that it would restrain the pendulum against "falling" in the direction of acceleration. The pendulous mass and its attached gyroscope are themselves mounted on a pedestal that can be rotated by an electric torque motor. The rotational axis of this pedestal is mutually orthogonal to the spin axis of the gyroscope as well as the axis that the pendulum is free to move in. The axis of rotation of this pedestal is also in the direction of the measured acceleration.

The position of the pendulum is sensed by precision electrical contacts or by optical or electromagnetic means. Should acceleration displace the pendulum arm from its null position the sensing mechanism will operate the torque motor and rotate the pedestal such that the property of gyroscopic precession restores the pendulum to its null position. The rate of rotation of the pedestal gives the acceleration while the total number of rotations of the shaft gives the speed, hence the term "integrating" in the PIGA acronym. A further level of integration of shaft rotations by either electronic means or by mechanical means, such as a Ball-and-disk integrator , can record the displacement or distance traveled, this latter mechanical method being used by early guidance systems prior to the availability of suitable digital computers.

In most implementations of the PIGA the gyroscope itself is cantilevered on the end of the pendulum arm to act as the pendulous mass itself. Up to three such instruments may be required for each dimension of an INS with the three accelerometers mounted orthogonally generally on a platform stabilized gyroscopically within a system of gimbals.

A critical requirement for accuracy is low static friction ( stiction ) in the bearings of the pendulum; this is achieved by various means ranging from double ball bearing with a superimposed oscillatory motion to dither the bearing above its threshold or through the use of gaseous or fluid bearings or by the alternative method of floating the gyroscope in a fluid and restraining the residual mass by jewel bearings or electromagnetic means. Although this later method still has the viscous friction of the fluid this is linear and has no threshold and has the advantage of having minimal static friction. Another aspect is the accurate control of the gyroscope's rotational rate.

The PIGA was based on an accelerometer developed by Dr. Fritz Mueller , then of the Kreiselgeraete Company, for the LEV-3 and experimental SG-66 guidance system of the Nazi era German V2 (EMW A4) ballistic missile and was known among the German rocket scientists as the MMIA "Mueller Mechanical Integrating Accelerometer". This system used precision electrical contacts to actuate the torque motor and achieved an accuracy of 1 part in 1000 to 1 part per 10000 known in technical parlance as a scale error of 1000 to 100. This was equivalent to about 600 m of accuracy over the V2 1500 m/s speed and 320 km flight. Since the number of shaft rotations represented speed, a Cam Switch was used to initiate missile
Den Rosa Håriga Unga Tjejen Och Den Jätte Dildo | Svensk Porr
Porrstjärnor - Alexis Brill | Svensk Porr
Den Bystiga Tonåringen Onanerar Sig Bra | Svensk Porr

Piga | Svensk Porr

Report Page