ACHONDROPLASIA SÖZCÜĞÜ İNGILIZCE DİLİNDE NE ANLAMA GELİR?
Achondroplasia
Achondroplasia / eɪˌkɒndrɵpleɪziə / cücenin ortak bir nedeni. Olguların yaklaşık% 80'inde sporadik bir mutasyon olarak ortaya çıkar veya otozomal dominant genetik bir bozukluk olarak kalıtım yoluyla kalabilir. Akondroplazisi olanların boyları kısadır, erkeklerde ortalama 131 santimetre, dişiler için 123 santimetredir. Akondroplastik yetişkinlerin 62,8 cm kadar kısa olduğu bilinmektedir. Bozukluğun kendisi, fibroblast büyüme faktörü reseptörü 3 için, kıkırdak oluşumunda bir anormallik oluşturan bir değişikliğin nedenidir. Eğer bir çocuğun her iki ebeveyni akondroplazisi varsa ve her iki ebeveyn mutant geni geçtiyse, homozigot çocuğun hayatının birkaç ayını geçiremeyecek kadar olasıdır. Prevalans 25.000'de yaklaşık 1'dir.
İngilizce sözlükte achondroplasia sözcüğünün tanımı
Sözlükte akondroplazinin tanımı, kıkırdağın kemiğe dönüşmesinin başarısız olması, cenin ömrü boyunca başlayan ve cücelikle sonuçlanan bir iskelet bozukluğudur.
«ACHONDROPLASIA» İLE İLİŞKİLİ İNGILIZCE KİTAPLAR
achondroplasia sözcüğünün kullanımını aşağıdaki kaynakça seçkisinde keşfedin.
achondroplasia ile ilişkili kitaplar ve İngilizce edebiyattaki kullanımı ile ilgili bağlam sağlaması için küçük metinler.
1
Ultrasound of Fetal Syndromes
In seven cases of heterozygous achondroplasia reported by Kurtz et al., the
gestational age at the time of sonographic diagnosis varied between 21 and 27
weeks. Facial features of heterozygous achondroplasia are visible
sonographically ...
Beryl R. Benacerraf,
2008
2
NORD Guide to Rare Disorders
DEFINITION: The achondroplasia family of skeletal dys- plasias includes four
related but distinct entities: achondroplasia, hypochondroplasia, thanatophoric
dysplasia, and SADDAN dysplasia (severe achondroplasia, developmental delay
, ...
National Organization for Rare Disorders,
2003
3
Hereditary Hearing Loss and Its Syndromes
The frequency of achondroplasia has been estimated as ranging between 1/
16,000 and 1/35,000 live births (41). More than 80% of recorded cases of
achondroplasia are sporadic, representing new mutations. Increased paternal
age at time of ...
Helga V. Toriello, Shelley D. Smith,
2013
4
Lovell and Winter's Pediatric Orthopaedics
Achondroplasia Achondroplasia is the most common form of short-limb dwarfism.
It is inherited as an autosomal dominant trait with complete penetrance.
Approximately 87% of cases are caused by new mutations. There is a
considerable ...
Wood W. Lovell, Robert B. Winter, Raymond T. Morrissy,
2006
5
For the Love of Dachshunds
We look first at the species contrast between achondroplasia as a singular
syndrome in human beings and as a manifold of separable traits in dogs. In 1994
, several research groups reported the unique cause of human achondroplasia to
be a ...
6
Turek's Orthopaedics: Principles and Their Application
Radiograph of the pelvis with severe proximal femoral and acetahular deformities
. achondroplasia, the deformity is present solely in the tibia; however, in
pseudoachondroplasia the deformity is often present in both the femur and the
tibia, ...
Stuart L. Weinstein, Joseph A. Buckwalter,
2005
7
Limb Lengthening and Reconstruction Surgery
Children with achondroplasia typically present for orthopedic evaluation after
already having been diagnosed by a geneticist. Achondroplasia accounts for
about 75% of all dwarfism. However, it is nonetheless a rare condition, affecting ...
S. Robert Rozbruch, Svetlana Ilizarov,
2006
8
Avery's Diseases of the Newborn
In the achondroplastic infant who dies suddenly, the head circumference is
usually not larger than average for achondroplasia, the neurologic state is not
abnormal, and development is average. Radiologic imaging of the skull and
brain is ...
H. William Taeusch, Roberta A. Ballard, Christine A. Gleason,
2005
9
Dwarfism: Medical and Psychosocial Aspects of Profound Short ...
A. Ganel and H. Horoszowski, “Limb Lengthening in Children with
Achondroplasia. Difference Based on Gender,” Clinical Orthopaedics and
Related Research 332 (1996): 179-83. 165. R. Aldegheri and C. Dall'Oca, “Limb
Lengthening in ...
10
Surgery of the Pediatric Spine
... of cord compression in achondroplasia. J Pediatr 1984;104:398–401 27.
Krakenes J, Kaale BR, Rorvik J, Gilhus NE. MRI assessment of normal
ligamentous structures in the craniovertebral junction. Neuroradiology2001;43:
1089-1097 28.
Daniel H. Kim, Randal R. Betz,
2011
«ACHONDROPLASIA» TERİMİNİ İÇEREN HABERLER
Ulusal ve uluslararası basında konuşulanları ve
achondroplasia teriminin aşağıdaki haberlerde hangi bağlamda kullanıldığını keşfedin.
Dwarfism treatment triggers mixed emotions
Parents like Chelley Martinka, whose daughter has the condition, achondroplasia, say they have no intention of giving their children injections ... «HeraldNet, Tem 15»
4-foot-4 Rico Abreu wins 1st NASCAR race
The 4-foot-4 Abreu was born with achondroplasia, a genetic disorder that is the most common cause of dwarfism. As such, the 23-year-old must ... «SB Nation, Tem 15»
Experimental drug to treat dwarfism raises questions
The average man with achondroplasia grows to a height of 4 feet 4 inches while the average woman with the condition reaches 4 feet 1 inch. «Boston Globe, Tem 15»
Columbus Motor Speedway driver pursues Spring Cup dream
He was born with achondroplasia, which MarchofDimes.org calls a birth defect that affects a baby's bone growth. His siblings, Matteo, 18, and ... «Columbus Dispatch, Haz 15»
BioMarin Announces FDA Accepts Drisapersen NDA for Treatment …
... BMN 111), a modified C-natriuretic peptide, which is currently in Phase 2 clinical development for the treatment of achondroplasia, BMN 044, ... «Nasdaq, Haz 15»
Little Women LA news: as Traci leaves due to pregnancy, Jasmine …
They already have a 3-month-old daughter named Penelope. Reportedly, the daughter inherited Terra's condition of achondroplasia. «Vine Report, Haz 15»
Little Women LA news: Terra Jole and Joe Gnoffo married
Penelope inherited the same type of dwarfism that Jole has—achondroplasia. Gnoffo, a drummer and actor, carries a different type of dwarfism, ... «ChristianToday, Haz 15»
BioMarin Announces EMA Validates MAA for Drisapersen for …
... BMN 111, a modified C-natriuretic peptide, which is currently in Phase 2 clinical development for the treatment of achondroplasia, BMN 044, ... «MarketWatch, Haz 15»
Biotech Stocks to bet on -BioMarin Pharmaceutical Inc. (NASDAQ …
Achondroplasia is the most common form of human dwarfism. Vosoritide has Orphan designation in both the United States and Europe. «Wall Street Observer, Haz 15»
Three Biotech Stocks Are Tumbling - BioMarin Pharmaceutical …
Achondroplasia is the most common form of human dwarfism. Vosoritide has Orphan designation in both the United States and Europe. «Wall Street Observer, Haz 15»