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$DNM1L-Associated Rapidly Progressive Encephalopathy with Superrefractory Status Epilepticus🔬 DNM1L mutations affect the ...$

23/09/2025

DNM1L-Associated Rapidly Progressive Encephalopathy with Superrefractory Status Epilepticus

🔬 DNM1L mutations affect the protein involved in mitochondrial division and dynamics, which is crucial for normal brain function. When mutated, this can lead to severe neurological problems, including rapidly progressive encephalopathy.

⚡ In cases linked to DNM1L, patients may experience superrefractory status epilepticus — a life-threatening form of prolonged seizures that continue despite aggressive treatment.

🧠 This condition progresses quickly, causing widespread brain dysfunction, and requires urgent, multidisciplinary care. Early recognition and genetic testing are essential for diagnosis.

💡 Understanding DNM1L’s role opens pathways for research into targeted therapies, but currently, management focuses on seizure control and supportive care.

26/05/2025

Continuum: Spinal Cord Disorders

download: https://t.me/radiology24ru/354?comment=598

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22/05/2025

MRI examples in the different myelopathy diagnostic categories. A, Cervical spine MRI
from a patient with idiopathic inflammatory myelopathy reveals a short-segment lesion
in T2-weighted (T2W) images and T1-weighted gadolinium-enhanced (T1W + Gad) images in
the posterolateral region of the cervical cord. B, Cervical spine MRI from a patient with
spinal cord infarction shows a longitudinally extensive, anterior lesion in T2W images in both
sagittal and axial views, which appears unenhanced in T1W + Gad images. C, Thoracic MRI
in a patient with a dural arteriovenous fistula seen as a longitudinally extensive myelopathy
and diffuse intraaxial enhancement in the central cord; there are enlarged vessels in the
dorsal surface of the cord (arrow). D, Cervical spine MRI in a patient with spondylotic
myelopathy shows posterior disk protrusion with mass effect on the spinal cord and
intraaxial signal abnormality in T2W images and focal enhancement in T1W + Gad images in
the central cervical cord

#МРТ #Диагностика #МышцыБедра #МедицинскиеИсследования #РанняяДиагностика #МониторингЗаболеваний #Здоровье #Медицина #Наука

20/05/2025

Применение Т2 мульти-эхо последовательности как метод динамической оценки жировой мышц бедра при нервно-мышечных заболеваниях. ссылка: #МРТ #НервноМышечныеЗаболевания #Т2МультиЭхо #ЖироваяИнфильтрация #Диагностика #МышцыБедра #МедицинскиеИсследования #РанняяДиагностика #МониторингЗаболеванийследования подтверждают значительный потенциал применения Т2 мульти-эхо последовательностей в оценке жировой инфильтрации мышц бедра у пациентов с
такими заболеваНервноМышечныеЗаболевания #Т2МультиЭхо #ЖироваяИнфильтрация #Диагностика #МышцыБедра #МедицинскиеИсследования #РанняяДиагностикаологий.
ссылка: https://radiology24.ru/t2-multi-echo-gradient-echo/

#МРТ #НервноМышечныеЗаболевания #Т2МультиЭхо #ЖироваяИнфильтрация #Диагностика #МышцыБедра #МедицинскиеИсследования #РанняяДиагностика #МониторингЗаболеваний #Здоровье #Медицина #Наука

14/05/2025

Т2 и R² карты мышц бедра на МРТ позволяют оценить состояние тканей, выявить воспаления и изменения структуры мышц для ранней диагностики и мониторинга лечения.

#мрт #мртмышц #т2карта #диагностика #здоровьемышц #радиология #медицинскиетехнологии #магнитнорезонанснаятомография

04/05/2025

Axial HASTE T2-WI at the basal ganglia level showing diffuse homogeneous hyperintense signal in the subcortical white matter with sparing of claustrum and grey matter.

MRS with a single-voxel technique in the parietal lobe showing a prominent doublet peak around 3.7 ppm representing galactitol (arrow).

CLINICAL HISTORY
A 5-week-old male infant of unrelated parents and normal birth presented with progressive enlargement of the head circumference, hypotonia, feeding difficulties with poor weight gain and congenital lamellar cataracts. Later he developed nephrotic syndrome and hypertransaminasemia.

This case proved to be type I galactosemia or “classic” galactosemia phenotype due to nondetectable galactose-1-phosphate uridyltransferase (GALT) caused by mutation of the GALT gene on chromosome 9p13.3 resulting in galactose-1-phosphate and ulterior galactitol accumulation.
Galactosemia is an autosomal recessive inborn error of metabolism with three different types depending on the gene mutation. Symptoms vary depending on the degree of enzyme deficiency/heterogeneity, but children often present with milk-feeding problems with poor weight gain, hypotonia, lethargy, and liver and kidney dysfunction. Accumulation of galactitol in the brain causes cerebral oedema with macrocephaly, while accumulation in the lenses causes cataracts .

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03/12/2023

Optic pathway glioma

Post: https://radiology24.ru/optic-pathway-glioma/

30/11/2023

LAMA2 Muscular Dystrophy

Post: https://radiology24.ru/merosin-deficient-congenital-muscular-dystrophy/

04/10/2022

Syringomyelia refers to a cystic collection, or syrinx, that occurs within the spinal cord around the central canal. Although syringomyelia is distinct from hydromyelia, in which there is simply dilatation of the central canal, it is very difficult to distinguish the two on imaging. Hence, the collective terms hydrosyringomyelia or syringohydromyelia can also be used to describe this fluid collection within the cord.

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25/08/2022

Rathke cleft cysts, also known as pars intermedia cysts, are non-neoplastic, sellar or suprasellar epithelium-lined cysts arising from the embryologic remnants of Rathke pouch in the pituitary gland. They are common lesions and usually incidentally identified.

19/08/2022

Rett syndrome is a rare neurodegenerative disease seen in young girls in the 2nd to 4th months of life. The majority of cases result from a mutation in the MECP2 gene; a more severe subset of the disease arises from a CDKL5 mutation

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19/07/2022

plexiform neurofibroma

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