KATE
My friends need help with the translation С недавнего времени здоровый, как нам казалось, ребенок стал угасать на глазах. После комплексного обследования в том числе и генетического нам поставили диагноз Leigh syndrome (MILS). Результаты проведенного обследования: Молекулярно - генетическая диагностика Leigh syndrome (MILS) ребенка - выявлено гомозиготное носительство мутации 845delCT гена SURF1 генотип (845delCT/845delCT) Молекулярно - генетическая диагностика Leigh syndrome (MILS) родителей - гетерозиготное носительство мутации 845delCT гена SURF1 ( генотип 845delCT/N) Диагноз: Leigh syndrome (MILS) (подострая некротизирующая энцеломиелопатия). Клинический симптомокомплекс: регресс психомоторного развития, мышечная гипотония, можечковые и экстрапирамидные расстройства, лактат - ацидоз, характерные изменения на МРТ головного мозга. Течение заболевания прогрессирующее. Тип наследования - аутосомно - рецессивный. В нашей стране существует только симптомотическое лечение. Существует ли в вашем институте методы излечения данной болезни путем трансплантации здоровых ДНК или иные методы исцеления? Благодарю, за Ваше внимание!
Mar 29, 2015 6:13 PM
Corrections · 2
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I have tried my very best to translate the Russian into English.  However, I am not a physician, and many of the medical terms were totally unfamiliar to me.  In fact, I had to attempt to learn them while doing the translation.  Because this is such a serious and important matter, your friends may wish to consider having a translation done by a professional translator with a background in medical translations. //   I wish the child and his or her parents all the best.

 


Recently, it has appeared to us that our child’s health has visibly deteriorated. After comprehensive examinations, including genetic testing, we were given the diagnosis of Leigh Syndrome (MILS).


The results of the examinations are as follows:

 

Molecular: Genetic diagnostic of Leigh Syndrome (MILS) in the child revealed a homozygous mutation carrier 845delCT gene SURF1 genotype.

 

Molecular: Genetic diagnostic of Leigh Syndrome (MILS) in the parents revealed a heterozygous mutation carrier 845delCT gene SURF1 (genotype 845delCT/N).

 

Diagnosis: Leigh Syndrome (MILS) (subacute necrotizing encephalopathy).

 

Clinical symptom complex: A regression in psychomotor development, muscular hypotonia, cerebellar and extrapyramidal disorders, lactic acidosis, and characteristic changes on MRI of the brain.

 

The condition is progressive.

 

Autosomal recessive inheritance.

 

In our country it is only possible to treat the patient symptomatically.

 

Is your institution able to treat the disease by means of a transplant of healthy DNA, or by means of some other treatment?

 

I am grateful for your attention to this matter.

March 29, 2015
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