четвърти – -Translation – Keybot Dictionary

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  Синдром на Di George - ...  
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По време на пренаталния период (между 2 и 8 седмица вкл.) няма развитие на трети и четвърти фарингеални джобове Тези джобове определят появата на следните структури: тимус, околощитовидни жлези, аортна дъга, част от устните и ушите.
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A new disease profile is added to our database – DiGeorge Syndrome. DiGeorge Syndrome is a rare primary immune disorder with congenital absence of the thymus and parathyroid glands, as a result of which the T lymphocytes providing cellular immune response, are absent. An underdevelopment of the third and fourth pharyngeal pouches during prenatal stage (between 2-8 weeks inclusive) is observed. These pouches give rise to the following structures: thymus, parathyroids, aortic arch, portions of the lips and ears. To receive more detailed information about the disease, please click here and send us a request. The profile was written by our consultant in microbiology and immunology – Assoc. Prof. Marianna Murdjeva, MD, PhD
  Синдром на Андерсон - И...  
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При секвенция на KCNJ2 се разкрива мутация на R218W в индекс-пациента и нейната шест годишна дъщеря, при която са налице дисморфични аномалии (микрогнатия, клинодактилия на четвърти и пети пръст, нисък ръст) и обструктивна сънна апнея.
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, from the Department of Neurology and Neurosurgery, Universidade Federal de Sao Paulo, Brazil (UNIFESP). Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. The authors report a case of a patient presenting AS who also had obesity, obstructive sleep apnea (OSA) and daytime sleepiness. Clinical and genetic evaluation of six family members demonstrated that four had dysmorphic abnormalities but none had PP or cardiac arrhythmia. Sequencing of KCNJ2 revealed the R218W mutation in the index patient and her 6-year-old daughter, who presented dysmorphic abnormalities (micrognathia, clinodactyly of fourth and fifth fingers, short stature) and OSA. OSA accompanied by dysmorphic features may be related to AS. To access the full abstract of the article, click here.