Неалкогольная энцефалопатия Вернике у пациента с трансплантированной почкой

Background. Non-alcoholic Wernicke’s encephalopathy occurs in various somatic conditions with thiamine deficiency, excessive excretion of thiamine, or impaired thiamine metabolism. Very few cases of this pathology have been described in chronic kidney disease (CKD). We present a unique case of non-alcoholic Wernicke’s encephalopathy in a patient with a kidney transplant is presented.Past medical history. The patient underwent kidney transplantation in 2008. Outpatient follow-up by a nephrologist was irregular. Renal graft function remained relatively stable: blood creatinine 200–240 μmol/L, estimated glomerular filtration rate 40–30 mL/min, tacrolimus plasma concentrations tended to increase (5.7–7.6–8.4–10.4 ng/mL); repeated graft biopsy (in 2015 and in 2017) determined the chronic toxicity of calcineurin inhibitors. The patient’s condition worsened in late January 2020: body temperature increased to 38°C, nausea, vomiting, loose, watery stools for up to 5 times per day, 8 kg weight loss, decreased diuresis. A few days later, double vision, shaky gait and then immobility appeared. Biochemical examination results: potassium 3.8 mmol/L, sodium 139 mmol/L, alpha-amylase 159 units/L (norm 0–100 units/L), creatinine 242 mmol/L, urea 13.2 mmol/L; ultrasound signs of pancreatitis. Magnetic resonance imaging (MRI) of the brain: bilateral diffuse lesions of the midbrain, thalamus, and cerebellum. Based on the clinical picture and on brain MRI results, Wernicke’s encephalopathy was diagnosed. Parenteral administration of thiamine had a good effect.Conclusion. Possible mechanisms of the development of Wernicke’s encephalopathy in a patient were discussed. Vigilance is required regarding this disease when metabolic disorders occur in patients with CKD.Актуальность. Неалкогольная энцефалопатия Вернике встречается при различной соматической патологии, сопровождающейся недостаточным поступлением, избыточной экскрецией или нарушением метаболизма тиамина. Описано крайне мало случаев этой патологии при хронической болезни почек (ХБП). Представлен уникальный случай неалкогольной энцефалопатии Вернике у пациента с трансплантированной почкой.История болезни. Пациент перенес трансплантацию почки в 2008 г. Амбулаторное наблюдение у нефролога нерегулярное. Функция почечного трансплантата сохранялась относительно стабильной: креатинин крови 200–240 мкмоль/л, расчетная скорость клубочковой фильтрации 40–30 мл/мин, плазменная концентрация такролимуса имела тенденцию к повышению (5,7–7,6–8,4– 10,4 нг/мл), при повторной биопсии трансплантата (в 2015 г. и в 2017 г.) определялась хроническая токсичность ингибиторов кальциневрина. Ухудшение состояния в конце января 2020 г.: повышение температуры тела до 38 °С, тошнота, рвота, неоформленный, водянистый стул до 5 р/сут, потеря в весе до 8 кг, снижение диуреза. Через несколько дней появились двоение в глазах, шаткость походки, затем обездвиженность. Результаты биохимического обследования: калий 3,8 ммоль/л, натрий 139 ммоль/л, альфа-амилаза 159 ед/л (норма 0–100 ед/л), креатинин 242 мкмоль/л, мочевина 13,2 ммоль/л; ультразвуковые признаки панкреатита. Магнитно-резонансная томография (МРТ) головного мозга: двустороннее диффузное поражение среднего мозга, таламусов и мозжечка. На основании клинической картины и результата МРТ головного мозга диагностирована энцефалопатия Вернике. Проводилось парентеральное введение тиамина с хорошим эффектом.Заключение. Обсуждаются возможные механизмы развития энцефалопатии Вернике у пациента. Необходима настороженность в отношении данного заболевания при возникновении метаболических нарушений у пациентов с ХБП

Genome sequencing and population genomic analyses provide insights into the adaptive landscape of silver birch

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Genome sequencing and population genomic analyses provide insights into the adaptive landscape of silver birch

Silver birch (Betula pendula) is a pioneer boreal tree that can be induced to flower within 1 year. Its rapid life cycle, small (440-Mb) genome, and advanced germplasm resources make birch an attractive model for forest biotechnology. We assembled and chromosomally anchored the nuclear genome of an inbred B. pendula individual. Gene duplicates from the paleohexaploid event were enriched for transcriptional regulation, whereas tandem duplicates were overrepresented by environmental responses. Population resequencing of 80 individuals showed effective population size crashes at major points of climatic upheaval. Selective sweeps were enriched among polyploid duplicates encoding key developmental and physiological triggering functions, suggesting that local adaptation has tuned the timing of and cross-talk between fundamental plant processes. Variation around the tightly-linked light response genes PHYC and FRS10 correlated with latitude and longitude and temperature, and with precipitation for PHYC. Similar associations characterized the growth-promoting cytokinin response regulator ARR1, and the wood development genes KAK and MED5A.Peer reviewe

Genome sequencing and population genomic analyses provide insights into the adaptive landscape of silver birch.

Silver birch (Betula pendula) is a pioneer boreal tree that can be induced to flower within 1 year. Its rapid life cycle, small (440-Mb) genome, and advanced germplasm resources make birch an attractive model for forest biotechnology. We assembled and chromosomally anchored the nuclear genome of an inbred B. pendula individual. Gene duplicates from the paleohexaploid event were enriched for transcriptional regulation, whereas tandem duplicates were overrepresented by environmental responses. Population resequencing of 80 individuals showed effective population size crashes at major points of climatic upheaval. Selective sweeps were enriched among polyploid duplicates encoding key developmental and physiological triggering functions, suggesting that local adaptation has tuned the timing of and cross-talk between fundamental plant processes. Variation around the tightly-linked light response genes PHYC and FRS10 correlated with latitude and longitude and temperature, and with precipitation for PHYC. Similar associations characterized the growth-promoting cytokinin response regulator ARR1, and the wood development genes KAK and MED5A

Development of forest biotechnology in Russia

Биотехнология. Биотехнология древесных растени

Development of forest biotechnology in Russia

Биотехнология. Биотехнология древесных растени

Genome sequencing and population genomic analyses provide insights into the adaptive landscape of silver birch

Abstract Silver birch (Betula pendula) is a pioneer boreal tree that can be induced to flower within 1 year. Its rapid life cycle, small (440-Mb) genome, and advanced germplasm resources make birch an attractive model for forest biotechnology. We assembled and chromosomally anchored the nuclear genome of an inbred B. pendula individual. Gene duplicates from the paleohexaploid event were enriched for transcriptional regulation, whereas tandem duplicates were overrepresented by environmental responses. Population resequencing of 80 individuals showed effective population size crashes at major points of climatic upheaval. Selective sweeps were enriched among polyploid duplicates encoding key developmental and physiological triggering functions, suggesting that local adaptation has tuned the timing of and cross-talk between fundamental plant processes. Variation around the tightly-linked light response genes PHYC and FRS10 correlated with latitude and longitude and temperature, and with precipitation for PHYC. Similar associations characterized the growth-promoting cytokinin response regulator ARR1, and the wood development genes KAK and MED5A