The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease
- C. Hendriksz, M. Anheim, S. Kolb
- Medicine, PsychologyCurrent Medical Research and Opinion
- 2 March 2017
Several clinical niches have been identified that harbor patients at increased risk of Niemann-Pick disease type C, and new screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C.
Torque teno virus dynamics during the first year of life
- E. A. Tyschik, Anastasiya S. Rasskazova, A. Degtyareva, D. Rebrikov, G. Sukhikh
- MedicineVirology Journal
- 30 May 2018
This is the first study to suggest that viral load increases during the first year of life reaching a plateau after 6 months with strong proliferation for the first 60 days.
Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients
- A. Degtyareva, T. Proshlyakova, E. Zakharova
- Medicine, BiologyBMC Medical Genetics
- 11 July 2019
Combined analysis of ChT activity and C-triol levels is an effective method for identifying NP-C and three patients with mutations in JAG1 and ABCB11 genes were identified.
Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann–Pick disease type C in a Russian patient: a case report
- A. Degtyareva, S. Mikhailova, E. Zakharova, E. Tumanova, A. Puchkova
- MedicineJournal of Medical Case Reports
- 1 June 2016
The case of a Russian newborn with early-infantile onset Niemann–Pick disease type C who displayed prolonged neonatal jaundice and hepatosplenomegaly is reported and recommended examination of all newborns and children who display unexplained cholestasis or isolated splenome galy during the first months of life for other signs of possible Niem Mann–Pick Disease type C.
[Determination of glutamic acid in biological material by capillary electrophoresis].
- E. Narezhnaya, I. Krukier, V. Avrutskaya, A. Degtyareva, E. A. Igumnova
- ChemistryBiomeditsinskaia khimiia
- 1 September 2015
The results showed a decrease in thelevel of glutamic acid in cases of pregnancy complicated by placental insufficiency compared with the physiological, and this fact allows to consider the level ofglutamic acid as a possible marker of complicated pregnancy.
NEONATAL HYPERAMMONEMIA: TRANSIENT CONDITION OR MARKER OF INBORN ERRORS OF METABOLISM?
- A. Degtyareva
- 15 October 2018
Long-Term Effects of Kasai Portoenterostomy for Biliary Atresia Treatment in Russia
- A. Degtyareva, A. Razumovskiy, A. Puchkova
- 1 September 2020
The obtained results underscore the critical importance of surgical correction of biliary atresia by Kasai surgery in the first 60 days of life and subsequent dynamic follow-up of patients for the purpose of the early detection and timely correction of possible complications.
Why Children Are Less Affected by COVID-19 Than Adults: Potential Immunological Factors and the Renin-Angiotensin System Associated Mechanisms
- O. Krogh-Jensen, I. Nikitina, A. Donnikov, A. Lenyushkina, N. Degtyareva, A. Degtyareva
- Medicine, Biology
- 9 June 2020
It is concluded that children suffer from COVID-19 much less often than adults and tolerate the disease in a milder form, often appear to be asymptomatic.
The newborns Torque teno virus dynamics depending on the term, feeding type and maternal viral load.
- E. A. Lolomadze, A. Degtyareva, D. Rebrikov
- MedicineActa virologica
Whole blood TTV load does not show significant correlation with full-term/prematurity, maternal TTVLoad, or feeding type, and consistently with the previous findings of the lack of transplacental transmission of the virus.
Remote results of treatment of biliary atresia in children
- A. Razumovskiy, A. Degtyareva, M. Albegova
- MedicineRossiyskiy Vestnik Perinatologii i Pediatrii…
- 9 March 2019