Publications by authors named "P Nevalainen"
Successful Pedal Bypass in a Patient With Pseudoxanthoma Elasticum.
Vasc Endovascular Surg
October 2024
Article Synopsis
- Pseudoxanthoma elasticum (PXE) is a rare condition that leads to deep calcification in arteries, often resulting in peripheral artery disease (PAD), which poses challenges in surgical treatments.
- A case report details a successful treatment of a 57-year-old female with PXE who suffered from critical limb ischemia (CLI), using a pedal bypass with the great saphenous vein after unsuccessful angioplasty.
- The patient showed significant improvement at the one-month follow-up, with almost healed ulcerations and uncomplicated results in subsequent ultrasounds, emphasizing the importance of timely surgery and a collaborative medical approach for managing PAD in PXE patients.
Article Synopsis
- - Pseudoxanthoma elasticum (PXE) is a rare genetic disorder that leads to issues like retinal problems, skin changes, and hardened arteries, primarily due to calcification beneath the retina, which can cause macular degeneration.
- - Researchers created and studied two specific induced pluripotent stem cell (hiPSC) lines from a PXE patient, focusing on retinal pigment epithelial (RPE) cells to compare their features with those of healthy cells.
- - Initial findings showed that PXE-specific RPE cells have increased pigmentation and poorer barrier and phagocytic functions compared to healthy controls, suggesting factors that contribute to macular degeneration in PXE patients, with further validation needed in more patients.
Article Synopsis
- APECED is a serious genetic autoimmune disorder linked to variants in the autoimmune regulator (AIRE) gene, with 16% of evaluated patients lacking known harmful variants, most of whom are of Puerto Rican descent.
- Researchers discovered a deep intronic variant (c.1504-818 G>A) in these patients that causes a cryptic splice site leading to a dysfunctional protein through pseudoexon inclusion.
- They developed an antisense oligonucleotide (ASO) that corrected this genetic issue, demonstrating the potential for targeted treatments in APECED patients.
The proportion of patients becoming seizure-free after epilepsy surgery has stagnated. Large multi-center stereo-electroencephalography (SEEG) datasets can allow comparing new patients to past similar cases and making clinical decisions with the knowledge of how cases were treated in the past. However, the complexity of these evaluations makes the manual search for similar patients impractical.
View Article and Find Full Text PDFObjective: This study was undertaken to investigate the potential of interictal electroencephalographic (EEG) findings and electrically stimulated seizures during stereo-EEG (SEEG) as surrogate markers for the spontaneous seizure onset zone (spSOZ). We hypothesized that combining the localizing information of these markers would allow clinically meaningful estimation of the spSOZ.
Methods: We included all patients (n = 63) who underwent SEEG between January 2013 and March 2020 at Helsinki University Hospital and had spontaneous seizures during the recording.