Arterial spin labeling (ASL) je neinvazivní metoda MR využívaná k zobrazení mozkové perfuze. S rostoucími obavami týkajícími se používání kontrastních látek obsahujících gadolinium a zároveň významnými technickými pokroky v implementaci ASL se tato metoda stává středem zájmu různých diagnostických aplikací. V přehledovém článku se zaměřujeme na seznámení čtenářů se základy implementace sekvence ASL v neuroradiologii, diskutujeme optimální parametry skenování pro dosažení nejlepší kvality a přesnosti interpretace dat a poskytujeme přehled diagnostických aplikací v oblastech cerebrovaskulárních onemocnění, neuroonkologie, epilepsie a neurodegenerace. Kromě toho představujeme ukázkové radiologické případy a komentujeme potenciální budoucí vývoj neinvazivních ASL metod.
Arterial spin labeling (ASL) is a non-invasive MRI method used to image cerebral perfusion. Given increasing concerns regarding the use of gadolinium-based contrast agents and significant technical advancements in ASL implementation, the method is gaining attention in various diagnostic applications. This review article aims to familiarize readers with the fundamentals of ASL sequence implementation in neuroradiology, discuss optimal scanning parameters for achieving the highest quality and accuracy in data interpretation, and provide an overview of its diagnostic applications in the areas of cerebrovascular diseases, neuro-oncology, epilepsy, and neurodegeneration. Furthermore, we present illustrative radiological cases and explore the potential future developments of non-invasive ASL techniques.
OBJECTIVES: This study aims to assess the accuracy of generative pre-trained transformer 4o (GPT-4o) in answering multiple response questions from the European Diploma in Radiology (EDiR) examination, comparing its performance to that of human candidates. MATERIALS AND METHODS: Results from 42 EDiR candidates across Europe were compared to those from 26 fourth-year medical students who answered exclusively using the ChatGPT-4o in a prospective study (October 2024). The challenge consisted of 52 recall or understanding-based EDiR multiple-response questions, all without visual inputs. RESULTS: The GPT-4o achieved a mean score of 82.1 ± 3.0%, significantly outperforming the EDiR candidates with 49.4 ± 10.5% (p < 0.0001). In particular, chatGPT-4o demonstrated higher true positive rates while maintaining lower false positive rates compared to EDiR candidates, with a higher accuracy rate in all radiology subspecialties (p < 0.0001) except informatics (p = 0.20). There was near-perfect agreement between GPT-4 responses (κ = 0.872) and moderate agreement among EDiR participants (κ = 0.334). Exit surveys revealed that all participants used the copy-and-paste feature, and 73% submitted additional questions to clarify responses. CONCLUSIONS: GPT-4o significantly outperformed human candidates in low-order, text-based EDiR multiple-response questions, demonstrating higher accuracy and reliability. These results highlight GPT-4o's potential in answering text-based radiology questions. Further research is necessary to investigate its performance across different question formats and candidate populations to ensure broader applicability and reliability. CRITICAL RELEVANCE STATEMENT: GPT-4o significantly outperforms human candidates in factual radiology text-based questions in the EDiR, excelling especially in identifying correct responses, with a higher accuracy rate compared to radiologists. KEY POINTS: In EDiR text-based questions, ChatGPT-4o scored higher (82%) than EDiR participants (49%). Compared to radiologists, GPT-4o excelled in identifying correct responses. GPT-4o responses demonstrated higher agreement (κ = 0.87) compared to EDiR candidates (κ = 0.33).
- Publikační typ
- časopisecké články MeSH
Souhrn Úvod: Lumbální kýla v dětském věku je extrémně vzácná diagnóza a vyžaduje specifický diagnostický a léčebný přístup. Kazuistika prezentuje první popsaný případ v České republice. Popis případu: Dvacetidvouměsíční chlapec byl vyšetřen na chirurgické ambulanci pro měkkou, volně reponibilní rezistenci v pravé bederní oblasti, která byla dle matky přítomna od narození. Ultrazvukové vyšetření prokázalo defekt v oblasti odpovídající trigonum lumbale superius (Grynfeltti seu Lesshafti) velikosti 17 × 11 mm s herniací střevní kličky. Chlapec podstoupil RTG skeletu a ultrazvuk břicha k vyloučení přidružených vad a následně byl indikován k otevřené hernioplastice. Vzhledem k velikosti defektu byla zvolena primární plastika bez použití síťky. Pooperační průběh byl bez komplikací a při plánovaných kontrolách byl pacient bez známek recidivy kýly a bez vývojové asymetrie. Závěr: Lumbální kýla u dětí je vrozená a často se objevuje v souvislosti s dalšími přidruženými malformacemi, které je nutné vyloučit. Typ operace závisí na velikosti defektu a cílem je zajistit plastiku bez napětí.
Summary Introduction: Lumbar hernia in the pediatric population is an extremely rare diagnosis and therefore requires specific diagnostic and therapeutic approaches. This case report describes the first published case of a pediatric lumbar hernia in the Czech Republic. Case description: A 22-month-old boy was examined at a pediatric surgical clinic due to a soft reducible mass in the right lumbar region, which, according to his mother, has been present from birth. An ultrasound scan confirmed a defect in the anatomical localization of the superior lumbar triangle (the triangle of Grynfeltt-Lesshaft) measuring 17 × 11 mm with a bowel loop herniation. The patient underwent a skeletal X-ray and an abdominal ultrasound in order to rule out associated malformations, following which he was scheduled for an open hernioplasty. Given the small size of the defect, a primary closure without mesh hernioplasty was performed. The postoperative course was uneventful and at clinical follow-ups the patient showed no signs of hernia recurrence or growth asymmetry. Conclusion: Lumbar hernia in children is congenital and frequently occurs with other associated malformations, which must be ruled out. The type of operation depends on the size of the defect and its purpose is to provide a tension-free closure.
- Klíčová slova
- lumbální kýla,
- MeSH
- hernie * diagnóza patologie MeSH
- kojenec MeSH
- lidé MeSH
- operace kýly metody MeSH
- vrozené vady MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Focal cortical dysplasia (FCD) represents the most common cause of drug-resistant epilepsy in adult and pediatric surgical series. However, genetic factors contributing to severe phenotypes of FCD remain unknown. We present a patient with an exceptionally rapid development of drug-resistant epilepsy evolving in super-refractory status epilepticus. We performed multiple clinical (serial EEG, MRI), biochemical (metabolic and immunological screening), genetic (WES from blood- and brain-derived DNA), and histopathological investigations. The patient presented 1 month after an uncomplicated varicella infection. MRI was negative, as well as other biochemical and immunological examinations. Whole-exome sequencing of blood-derived DNA detected a heterozygous paternally inherited variant NM_006267.4(RANBP2):c.5233A>G p.(Ile1745Val) (Chr2[GRCh37]:g.109382228A>G), a gene associated with a susceptibility to infection-induced acute necrotizing encephalopathy. No combination of anti-seizure medication led to a sustained seizure freedom and the patient warranted induction of propofol anesthesia with high-dose intravenous midazolam and continuous respiratory support that however failed to abort seizure activity. Brain biopsy revealed FCD type IIa; this finding led to the indication of an emergency right-sided hemispherotomy that rendered the patient temporarily seizure-free. Postsurgically, he remains on antiseizure medication and experiences rare nondisabling seizures. This report highlights a uniquely severe clinical course of FCD putatively modified by the RANBP2 variant. PLAIN LANGUAGE SUMMARY: We report a case summary of a patient who came to our attention for epilepsy that could not be controlled with medication. His clinical course progressed rapidly to life-threatening status epilepticus with other unusual neurological findings. Therefore, we decided to surgically remove a piece of brain tissue in order to clarify the diagnosis that showed features of a structural brain abnormality associated with severe epilepsy, the focal cortical dysplasia. Later, a genetic variant in a gene associated with another condition, was found, and we hypothesize that this genetic variant could have contributed to this severe clinical course of our patient.
- MeSH
- dítě MeSH
- DNA MeSH
- epilepsie * komplikace MeSH
- fokální kortikální dysplazie * MeSH
- komplex proteinů jaderného póru * MeSH
- lidé MeSH
- midazolam MeSH
- molekulární chaperony * MeSH
- nemoci mozku * MeSH
- předškolní dítě MeSH
- progrese nemoci MeSH
- refrakterní epilepsie * genetika chirurgie MeSH
- status epilepticus * genetika chirurgie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
BACKGROUND: In recent decades, magnetic resonance imaging (MRI) has gained prominence as a standard diagnostic method for preoperative assessment in patients with anorectal malformations and a colostomy, with the potential to replace the classic fluoroscopic distal pressure colostogram (FDPC). Three MRI techniques are available: MRI-distal pressure colostogram with gadolinium (MRI-DPCG) or saline (MRI-DPCS) instillation into the colostomy and native MRI without colostomy instillation. OBJECTIVE: To evaluate and compare the diagnostic accuracy of MRI (native MRI, MRI-DPCG and MRI-DPCS) in the preoperative workup of boys with an anorectal malformation and a colostomy and to compare it to FDPC. MATERIALS AND METHODS: Sixty-two boys with preoperative MRI using one of the three approaches and 43 with FDPC met the inclusion criteria for this retrospective study. The presence and localization of rectal fistulas according to the Krickenbeck classification were evaluated and compared with intraoperative findings. RESULTS: The accuracy of fistula detection for MRI in general (regardless of the technique), MRI-DPCS, MRI-DPCG, native MRI and FDPC was 95% (59/62, P<0.001), 100% (12/12, P=0.03), 100% (30/30, P<0.001), 85% (17/20, P=0.41) and 72% (31/43, P=0.82), respectively. The accuracy of describing fistula type in patients with a correctly detected fistula using these methods was 96% (45/47, P<0.001), 100% (9/9, P<0.001), 100% (23/23, P<0.001), 87% (13/15, P<0.001) and 67% (13/21, P=0.002), respectively. CONCLUSION: MRI is a reliable method for detecting and classifying fistulas in boys with an anorectal malformation and a colostomy and can be considered the modality of first choice for preoperative workup.
- MeSH
- anorektální malformace * diagnostické zobrazování chirurgie MeSH
- kolostomie MeSH
- lidé MeSH
- magnetická rezonanční spektroskopie MeSH
- magnetická rezonanční tomografie metody MeSH
- rektální píštěl * chirurgie MeSH
- rektum diagnostické zobrazování chirurgie abnormality MeSH
- retrospektivní studie MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- MeSH
- granulom etiologie diagnóza MeSH
- lidé MeSH
- syndrom Nijmegen breakage * genetika MeSH
- těžká kombinovaná imunodeficience * terapie komplikace diagnóza MeSH
- transplantace hematopoetických kmenových buněk * škodlivé účinky MeSH
- výsledek terapie MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- dopisy MeSH
- kazuistiky MeSH
The case report of a young myope (born in 1997) who was diagnosed with bilateral concentric narrowing of the visual field to 15-20 degrees in 2021 is presented. On eye fundus, the findings were normal with central excavation c/d=0.5 and 0.4, respectively. OCT showed loss of retinal nerve fiber layer - in both vertical quadrants, including a reduction in the ganglion cell complex. Electrophysiological examination (PERG) showed normal retinal responses. Visual evoked responses (PVEP) after stimulation squared a 1 degree decrease in amplitudes, with no prolongation of P100 latency. When stimulated with 15-minute squares, responses were normal (see Supplementary Figure). Magnetic resonance imaging of the brain showed a narrowing of the chiasm. In conclusion, optic chiasm hypoplasia may not always have distinct morphological and functional manifestations. In addition to imaging methods, electrophysiological examination of the visual analyser was of great help for its verification.
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- MeSH
- anencefalie diagnóza epidemiologie etiologie MeSH
- Dandyův-Walkerův syndrom diagnostické zobrazování etiologie patologie MeSH
- lidé MeSH
- malformace nervového systému * diagnostické zobrazování epidemiologie etiologie klasifikace MeSH
- mozek * abnormality MeSH
- novorozenec MeSH
- Check Tag
- lidé MeSH
- novorozenec MeSH
- Publikační typ
- přehledy MeSH
- MeSH
- lidé MeSH
- malformace nervového systému * diagnostické zobrazování patologie terapie MeSH
- nádory mozku * diagnostické zobrazování terapie vrozené MeSH
- novorozenec MeSH
- Check Tag
- lidé MeSH
- novorozenec MeSH
- Publikační typ
- přehledy MeSH
