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306 citation(s) found for "Pa, Deepak".

Three‐dimensional surface scanning of patients to extend computed tomography field of view and scan length for dose calculation and collision avoidance in radiotherapy treatment planning
Jackson, Amanda, Shrestha, Deepak K. , Johnson, Perry , Jackson, Amanda M

Journal of Applied Clinical Medical Physics | November 11, 2025 | Volume: 26 | Issue: 11 | Pages: No page available

10.1002/acm2.70333 | PMID 41215563 Get It

Abstract Background Radiotherapy treatment planning requires knowledge of a patient's anatomical surface for use in dose calculations, collision checks, or surface‐guided radiation therapy (SGRT). This information is usually obtained from a computed tomography (CT) scan which may encounter field‐of‐view (FOV) limitations or require additional radiation dose beyond the treatment area to capture the full patient habitus. Purpose This study demonstrates an affordable alternative solution to obtain a patient's surface information without CT or room mounted surface‐guidance imaging cameras for the purpose of detecting patient collisions and providing additional skin surface information needed for appropriate depth calculations of clipped FOV scans. Methods Three‐dimensional (3D) surface models of five patients were acquired immediately prior to CT simulation using an iPad Air 2 equipped with a Structure Sensor Pro and Monocle SS application. The 3D surfaces were manually registered to the CT images and nearest distances between CT surface and 3D surface were calculated. Nearest distance calculations were also performed with a 2 mm CT rind structure that excluded select regions not relevant to surface detection. To demonstrate the advantage of having additional scan length for clearance checks, a collision simulated plan was evaluated with a shortened CT scan length versus with additional 3D surface information. Results CT rind to 3D scan surface mean distances for each patient were 1.65 mm, 0.99 mm, −0.93 mm, −0.79 mm, and −1.53 mm with standard deviations of 6.51 mm, 6.71 mm, 3.38 mm, 2.84 mm, and 2.69 mm. Conclusion This study demonstrates the feasibility of an accessible low‐cost 3D surface scanning solution to supplement clipped field‐of‐view CT scans and reduce CT scan lengths by obtaining important patient surface data for improved calculation accuracy, treatment clearance checks, and SGRT.
TMET-54. Rewiring of cortical glucose metabolism fuels human brain cancer growth
O’Brien, Alexandra, Bailleul, Justine , Zhou, Weihua , Xu, Jie , Lin, Angelica , Wilder-Romans, Kari , Korimerla, Navyateja , Feng, Jiane, Zhang, Li , Andren, Anthony , Tarnal, Vijay , Redic, Kimberly, Qi, Nathan , Fischer, J, Suresh, Krithika , Venneti, Sriram , Vlashi, Erina , Wahl, Daniel , Scott, Andrew J. , Mittal, Anjali , Meghdadi, Baharan , Palavalasa, Sravya , Achreja, Abhinav , Liang, Ningning , Kothari, Ayesha U. , Edwards, Donna , Wu, Zhe , Sajjakulnukit, Peter , Park, Junyoung O. , Hoeve, Johanna ten , Fischer, Joshua, Yang, Ethan , Regan, Michael S. , Stopka, Sylwia A. , Baquer, Gerard , Sarkaria, Jann N. , Lawrence, Theodore S. , Agar, Nathalie Y.R. , Lyssiotis, Costas A. , Al‐Holou, Wajd N. , Nagrath, Deepak

Neuro-Oncology | November 11, 2025 | Volume: 27 | Issue: Supplement_5 | Pages: v440-v441

10.1093/neuonc/noaf201.1745 Get It

Abstract The brain avidly consumes glucose to fuel neurophysiology. Cancers of the brain, such as glioblastoma (GBM), relinquish physiological integrity and gain the ability to proliferate and invade healthy tissue. How brain cancers rewire glucose utilization to drive aggressive growth remains elusive. Here, we infused 13C-labeled glucose into patients and mice with brain cancer, coupled with quantitative metabolic flux analysis, to map the fates of glucose-derived carbon in tumor vs. cortex. Through the first direct and comprehensive measurements of carbon and nitrogen labeling in both cortex and glioma tissues, we uncover profound metabolic transformations. In human cortex, glucose carbons fuel essential physiologic processes including TCA cycle oxidation and neurotransmitter synthesis. Conversely, gliomas downregulate these processes and scavenge alternative carbon sources such as amino acids from the environment, repurposing glucose-derived carbons to generate molecules needed for proliferation and invasion. Targeting this metabolic rewiring in mice through dietary amino acid modulation selectively alters GBM metabolism, slows tumor growth, and augments the efficacy of standard-of-care treatments. These findings illuminate how aggressive brain tumors exploit glucose to suppress normal physiological activity in favor of malignant expansion and offer potential therapeutic strategies to enhance treatment outcomes.
Epicardial adipose tissue, functional status, and invasive exercise hemodynamics in heart failure with preserved ejection fraction: Insights from the REDUCE LAP-HF II trial
Crum, Yoran , Veldhuisen, Dirk J. van , Mylavarapu, Uma, Komtebedde, Jan , Solomon, S D, Collins, N., Emani, Sitaramesh , Bruch, Leonhard , Gupta, Deepak , Gorter, Thomas M. , Shah, Sanjiv J , Hu, Mo , Lobeek, Michelle , Litwin, Sheldon E. , Borlaug, Barry A.

European Heart Journal | November 8, 2025 | Volume: 46 | Issue: Supplement_1 | Pages: No page available

10.1093/eurheartj/ehaf784.1008 Get It

Abstract Background Obesity is strongly associated with the development of heart failure (HF) with preserved ejection fraction (HFpEF). Beyond increased body mass index (BMI), an abundance of epicardial adipose tissue (EAT) may play a role in its pathophysiology. Purpose To study the associations between increased EAT, functional status and invasive exercise hemodynamics in a large cohort of HFpEF patients. Methods This is a sub-analysis from a large randomized clinical trial that investigated an atrial shunt device in patients with HF with left ventricular ejection fraction ≥40% and exercise pulmonary capillary wedge pressure (PCWP) ≥25mmHg. At baseline, all patients underwent echocardiography, 6-minute walk distance (6-MWD) test, Kansas City Cardiomyopathy Questionnaire (KCCQ) and invasive hemodynamic assessment at rest and during supine ergometry. EAT thickness was measured on the free wall of the right ventricle on echocardiography, expressed in mm and patients were divided according to EAT tertiles. Results In total, 566 patients were examined. Their mean age was 72±8 years, 62% were women, mean BMI was 33±6 kg/m2 and mean EAT thickness was 6.0±2.4 mm, ranging from 1.7 to 17.2 mm. With increasing EAT thickness tertiles, 6-MWD and KCCQ overall summary score were significantly lower (320 vs. 315 vs. 287m, p=.01; 51 vs. 45 vs. 41, p=.003; respectively, Figure 1A-B). The association between increased EAT and lower KCCQ score was independent of BMI (p=.004, β: -2.6), whereas the association with lower 6-MWD was not independent of BMI (p=.1, β: -6.9). At rest, invasive hemodynamics were not different across EAT tertiles. At peak exercise, patients in the highest EAT thickness tertile had higher PCWP and PCWP to right atrial pressure gradient, as compared to patients in the first and second EAT thickness tertiles (36±8 vs. 34±8 mmHg, p=.009; 18±7 vs. 16±7 mmHg, p=.002, respectively, Figure 1C). Conclusion Excess EAT is common in patients with HFpEF and is associated with lower functional status and with higher left-sided filling pressures at peak exercise. These data suggest that EAT plays a significant role in functional status and exercise hemodynamics in HFpEF.Figure 1
Abstract 4367111: Successful Intracardiac Radiofrequency Ablation of Recurrent Subaortic Membrane Causing LVOT Obstruction
Franczak, Stephanie , Yoo, Jeanwoo , Pasupula, Deepak, Niekerk, Christoffel J. van , Howick V, James F , McLeod, Christopher J.

Circulation | November 3, 2025 | Volume: 152 | Issue: Suppl_3 | Pages: No page available

10.1161/circ.152.suppl_3.4367111 Get It

Background: Subaortic membrane (SAM) is a fibromuscular ridge beneath the aortic valve that causes fixed left ventricular outflow tract (LVOT) obstruction. Surgical resection is the standard treatment for symptomatic patients or those with high gradients; however, recurrence occurs in up to 14% of adults within 5 years. While radiofrequency ablation (RFA) is well-established in arrhythmia management, its role in treating SAM has not been previously described. Case Information: 53-year-old man with HTN, BMI 51.7, and well-controlled OSA presented with worsening exertional dyspnea and fatigue in April 2024. He had prior surgical SAM resection in 2018, complicated by third-degree AV block requiring pacemaker implantation. Follow-up echocardiography revealed SAM recurrence with peak LVOT gradient of 52 mmHg. Given elevated surgical risk, a novel catheter-based RFA approach was pursued. In July 2024, the patient underwent catheter-based RFA under general anesthesia. A ThermoCool SmartTouch SF catheter was advanced retroaortically across the aortic valve toward the subaortic ridge, guided by CARTO 3 with CartoSound. A semi-circular lesion set was delivered to the septum inferior to the membrane. Two steam pops occurred during ablation in this area. Serial transthoracic echocardiograms at 3 and 8 months demonstrated sustained LVOT gradient reduction, from 52 mmHg pre-ablation to 49 mmHg and 38 mmHg, respectively. Left ventricular ejection fraction (EF) remained stable at 61%, with no new wall motion abnormalities or pericardial effusion. The patient reported marked improvement in symptoms and normalization of daily activity tolerance. No procedural complications or hospital readmissions occurred. Decision-Making: Given the patient’s high surgical risk and recurrent symptoms, the multidisciplinary team determined that repeat sternotomy carried elevated morbidity. RFA offered a targeted, minimally invasive solution that leveraged electrophysiology tools and preserved structural integrity while maximizing safety. Conclusions: This first-in-human case illustrates the feasibility of intracardiac RFA for recurrent SAM. The patient experienced sustained LVOT gradient reduction, preserved EF, and marked symptomatic improvement. This novel approach may offer a viable option for select patients with recurrent subaortic obstruction and prior sternotomy, warranting further investigation to define lesion durability, depth of tissue effect, and conduction system safety.
Endoscopic Ultrasound With Fine-Needle Biopsy for Rare Pancreatic Metastasis: A Case Series of Neuroendocrine Transformation From Primary Prostate Cancer
Ramirez, Oscar Ramirez , Ley, Dana , Vecchio, Eric , Agni, Rashmi , Matkowskyj, Kristina A. , Gopal, Deepak V, McNeel, Douglas G. , Lang, Joshua M. , Gopal, Deepak V.

ACG Case Reports Journal | October 30, 2025 | Volume: 12 | Issue: 11 | Pages: No page available

10.14309/crj.0000000000001872 | PMID 41181620 Get It

ABSTRACT Metastatic cancer to the pancreas is uncommon, accounting for only 2%–4% of pancreatic malignancies. Prostate cancer spreading to the pancreas is exceptionally rare. We present 2 cases of metastatic castration-resistant prostate cancer with histologic transformation from adenocarcinoma to neuroendocrine prostate cancer. Both patients developed new pancreatic lesions, in which endoscopic ultrasound-guided fine-needle biopsy confirmed the diagnosis. These cases highlight therapy-emergent neuroendocrine prostate cancer with loss of prostate lineage markers (prostate-specific antigen, NKX3.1), positive neuroendocrine markers (synaptophysin, INSM1, chromogranin), very high proliferative indices, and serum marker discordance that can mimic primary pancreatic cancer. These scenarios present a diagnostic challenge with an aggressive and complex nature, requiring multidisciplinary management. With newer therapies and prolonged survival of patients with prostate cancer, clinicians will likely encounter more cases in the future. Gastroenterologists can play a key role in diagnosis and palliative treatment.
Standalone Endovascular Embolization versus Stereotactic Radiosurgery in the Treatment of Arteriovenous Malformations in Eloquent Brain
Musmar, Basel , Abdalrazeq, Hammam , Adeeb, Nimer , Salim, Hamza , Roy, Joanna M. , Aslan, Assala , Tjoumakaris, Stavropoula I., Ogilvy, Christopher S. , Başkaya, Mustafa K. , Kondziolka, Douglas, Sheehan, Jason P. , Riina, Howard A. , Abushehab, Abdallah, Naamani, Kareem El, Ironside, Natasha , Gummadi, Sanjeev, Ataoglu, Cagdas , Muram, Sandeep , Sconzo, Daniel , Rezai, Arwin, Alwakaa, Omar , Park, Min S. , Hanalıoğlu, Şahin , Erginoğlu, Ufuk , Sen, Rajeev , Burkhardt, Jan‐Karl , Starke, Robert M. , Sekhar, Laligam N., Altschul, David , Haranhalli, Neil , McAvoy, Malia , Zeineddine, Hussein A. , Atallah, Elias , Rosenwasser, Robert H. , Stapleton, Christopher J. , Koch, Matthew J. , Srinivasan, Visish M. , Bulsara, Ketan R., Kim, Louis J. , Pukenas, Bryan, Smith, Edward R. , Alaraj, Ali , Patel, Aman B. , Notarianni, Christina , Lawton, Michael, Guthikonda, Bharat , Salim, Hamza , Riina, Howard , Dmytriw, Adam A , Gummadi, Sanjeev , Ataoglu, Cagdas , Essibayi, Muhammed Amir , Keles, Abdullah , Muram, Sandeep , Alwakaa, Omar , Mantziaris, Georgios , Park, Min S , Hanalioglu, Sahin , Erginoglu, Ufuk , Pöppe, Johannes , Griessenauer, Christoph J , Starke, Robert M , Levitt, Michael R , Altschul, David J , Haranhalli, Neil , Zeineddine, Hussein A , Atallah, Elias , Stapleton, Christopher , Koch, Matthew J , Srinivasan, Visish M , Chen, Peng R , Blackburn, Spiros , Bulsara, Ketan , Choudhri, Omar , Pukenas, Bryan , Smith, Edward , Alaraj, Ali , Patel, Aman B , Notarianni, Christina , Jabbour, Pascal , Musmar, Basel , Ogilvy, Christopher S , Tjoumakaris, Stavropoula , Kandregula, Sandeep , Dmytriw, Adam A. , Naamani, Kareem El , Abdelsalam, Ahmed , Kumbhare, Deepak , Essibayi, Muhammed Amir , Keleş, Abdullah , Tos, Salem M , Mantziaris, Georgios , Sen, Rajeev D., Griessenauer, Christoph J. , Sekhar, Laligam N. , Levitt, Michael R. , Abla, Adib A. , Gooch, Michael Reid , Kim, Louis J. , Choudhri, Omar , Pukenas, Bryan , Mosimann, Pascal J , Aziz‐Sultan, Mohammad Ali , Savardekar, Amey Rajan , Cuellar, Hugo , Morcos, Jacques J. , Jabbour, Pascal

Radiology | October 21, 2025 | Volume: 317 | Issue: 1 | Pages: No page available

10.1148/radiol.250329 | PMID 41117652 Get It

Stereotactic radiosurgery was associated with a higher obliteration rate compared with embolization in patients with eloquent brain arteriovenous malformations, whereas there was no evidence of a difference in functional outcomes or complications after adjustment.
First-line atezolizumab/bevacizumab or durvalumab/tremelimumab in advanced hepatocellular carcinoma: a real world, multicenter retrospective study
Kournoutas, Ioannis , Marell, Paulina S. , Peersen, Anina, Shah, Priyanshi , VanDommelen, Kyle, Gupta, Garima , Akce, Mehmet , Yang, Ju Dong , Chen, Pin‐Jung , Naleid, Nikolas , Peterson, Nicole , Sahai, Vaibhav , Halfdanarson, Thorvardur, Kankeu, Lionel Fonkoua, Washburn, Leslie, Conboy, Caitlin B. , Goenka, Ajit H. , Thompson, Scott A. , Ahn, Daniel H. , Jatoi, Aminah , Marell, Paulina, Gile, Jennifer , Yang, Ju Dong , Sahai, Vaibhav , Jin, Zhaohui , Fonkoua, Lionel Aurelien A Kankeu , Washburn, Leslie A, Goenka, Ajit, Starlinger, Patrick , Roberts, Lewis, Jatoi, Aminah , Ou, Fang-Shu , Tran, Nguyen , Conboy, Caitlin B , Kamath, Suneel Deepak , Mahipal, Amit , Wee, Wen , Jin, Zhaohui , Fonkoua, Lionel Aurelien Kankeu , Torbenson, Michael , Thompson, Scott, Venkatesh, Sudhakar K. , Starlinger, Patrick , Roberts, Lewis R. , Gores, Gregory J. , Babiker, Hani M. , Borad, Mitesh J. , Bekaii‐Saab, Tanios , McWilliams, Robert R. , Ou, Fang‐Shu

The Oncologist | September 20, 2025 | Volume: 30 | Issue: 11 | Pages: No page available

10.1093/oncolo/oyaf286 | PMID 40973475 Get It

Abstract Background Unresectable hepatocellular carcinoma (uHCC) is a leading cause of cancer death. FDA-approved first-line systemic therapies include atezolizumab/bevacizumab (atezo/bev) and durvalumab/tremelimumab (durva/treme); however, there is a lack of comparative data. Methods We reviewed outcomes of patients with uHCC who initiated atezo/bev or durva/treme between 2017 and 2024, across six institutions. Overall survival (OS) and time to treatment discontinuation (TTD) were analyzed using the Kaplan–Meier and Cox models, adjusting for baseline characteristics. Results Four hundred fifty-two uHCC pts were included. Median age: 68 years; 77% male; 81% white. Most common etiologies were viral hepatitis (38.9%) and metabolic dysfunction-associated steatohepatitis (19.5%). Disease progression was the primary reason for treatment discontinuation, atezo/bev (56%) and durva/treme (42%). Outcomes were not statistically significant (median OS [month, m]: 14.0 vs 14.6 [P = .66]; median TTD [m]: 4.9 vs 3.9 [P = .42] for atezo/bev vs durva/treme). Outcomes were significantly different between Child-Pugh classes (CP: A, B7, B8/9, C) respectively, median OS(m): 19.0, 6.1, 5.1, 2.0 (P < .001); median TTD(m): 6.1, 2.3, 3.0, 1.3 (P < .001). Conclusions In this real-world study of uHCC, no significant difference in clinical outcomes was observed between atezo/bev and durva/treme in the first-line setting. CP scores were a key prognostic variable with both regimens.
Safety and efficacy of preoperative embolization in the treatment of brain arteriovenous malformations with perinidal aneurysms and single draining vein: a multicenter study with propensity score-weighting
Adeeb, Nimer , Abdalrazeq, Hammam , Salim, Hamza , Tjoumakaris, Stavropoula , Kandregula, Sandeep , Ogilvy, Christopher S. , Sheehan, Jason , Aslan, Assala , Patel, Pious D. , Lan, Matthews , Baldassari, Michael P. , Koduri, Sravanthi , Atallah, Elias , Zeineddine, Hussein A. , Pontarelli, Mary-Katharine , Naamani, Kareem El, Ironside, Natasha , Gummadi, Sanjeev, Başkaya, Mustafa K. , Ataoglu, Cagdas , Mccarthy, Finn, Sanchez‐Forteza, Anthony , Essibayi, Muhammed Amir , Muram, Sandeep , Sconzo, Daniel , Riina, Howard A. , Rezai, Arwin, Alwakaa, Omar , Erginoğlu, Ufuk , Sen, Rajeev , Devia, Diego A., Perez-Mendez, Wilfran, Puentes, Juan C. , Spiotta, Alejandro M , Puri, Ajit S , Singh, Jasmeet, Burkhardt, Jan Karl, Starke, Robert M., Sekhar, Laligam N., Haranhalli, Neil , McAvoy, Malia , Eltiti, Marah, Abushehab, Abdallah, Foreman, Paul M. , Zaidat, Osama O. , Ruppert-Gomez, Marcella , Stapleton, Christopher J. , Koch, Matthew J. , Srinivasan, Visish M, Alshahrani, Rabab, Gooch, M Reid, Rosenwasser, Robert H. , Bulsara, Ketan R., Kan, Peter , Kim, Louis J. , Pukenas, Bryan , Li, Yan-Lin , Alaraj, Ali , Fuschi, Maurizio , Patel, Aman B. , Notarianni, Christina , Cuellar, Hugo H, Lawton, Michael T., Guthikonda, Bharat , Jabbour, Pascal , Salim, Hamza , Tjoumakaris, Stavropoula , Kandregula, Sandeep , Ogilvy, Christopher S , Dmytriw, Adam A , Aslan, Assala , Essibayi, Muhammed Amir , Alwakaa, Omar , Griessenauer, Christoph J , Abo Kasem, Rahim , Spiotta, Alejandro M , Levitt, Michael R , Altschul, David J , Shakir, Hakeem J , Zaidat, Osama O , Stapleton, Christopher , Koch, Matthew J , Chen, Peng R , Kan, Peter , Choudhri, Omar , Alaraj, Ali , Guthikonda, Bharat , Jabbour, Pascal , Erginoglu, Ufuk , Li, Yan-Lin , Burkhardt, Jan‐Karl , Musmar, Basel , Roy, Joanna M. , Kondziolka, Douglas , Dmytriw, Adam A. , Abou‐Al‐Shaar, Hussam , Naamani, Kareem El, Abdelsalam, Ahmed , Kumbhare, Deepak , Mccarthy, Finn, Keleş, Abdullah , Tos, Salem M , Mantziaris, Georgios , Park, Min S, Hanalıoğlu, Şahin , Pöppe, Johannes , Sen, Rajeev D, Griessenauer, Christoph J. , Ocampo-Navia, María Isabel , Kasem, Rahim Abo , Kühn, Anna Luisa , Sekhar, Laligam N. , Levitt, Michael R. , Altschul, David , Almajali, Mohammad , See, Alfred P. , Abla, Adib A. , Patel, Aashay , Nguyen, Andrew , Srinivasan, Visish M. , Blackburn, Spiros , Gooch, Michael Reid , Kim, Louis J. , Choudhri, Omar , Simonato, Davide , Savardekar, Amey Rajan , Lawton, Michael T. , Morcos, Jacques J.

Journal of NeuroInterventional Surgery | August 22, 2025 | Volume: 18 | Issue: 8 | Pages: 1765-1772

10.1136/jnis-2025-023873 | PMID 40846482 Get It

Background and objectives Arteriovenous malformations (AVMs) with perinidal aneurysms and single draining vein are associated with an elevated risk of rupture and increased procedural complexity. The role of preoperative embolization in this high-risk anatomical subset remains unclear. This study aimed to evaluate the safety and efficacy of microsurgery with preoperative embolization, compared with microsurgery alone in patients with such AVMs. Methods We conducted a multicenter retrospective analysis of an AVM registry from the MISTA (Multicenter International Study for Treatment of Brain AVMs) consortium and included AVMs with perinidal aneurysms and a single draining vein. Baseline characteristics, angiographic outcomes, functional outcomes, and complication rates were compared. Propensity score weighting (PSW) using the covariate balancing method was applied to adjust for baseline differences. Results Out of a total of 1919 patients, 65 met the inclusion criteria; 45 patients underwent preoperative embolization followed by microsurgery, and 20 underwent microsurgery alone. After adjustment, complete obliteration rates were similar between groups (OR 0.87, 95% CI 0.04 to 16.33, P=0.92), as were rates of functional independence at discharge and follow-up. Overall complication, symptomatic complication, and mortality rates did not differ significantly between groups. However, permanent complications were significantly lower in patients with preoperative embolization (OR 0.06, 95% CI 0.004 to 0.84, P=0.03). Discussion In patients with AVMs featuring perinidal aneurysms and single draining vein, preoperative embolization followed by microsurgery was associated with fewer permanent complications and no increase in adverse outcomes compared with microsurgery alone. However, given the small number of events, this finding should be interpreted cautiously.
Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report
Wilke, Matheus Vernet Machado Bressan , Verheijen, Johannes M., Umeshita, Saori, Thurman, Sarah Allen, Darr, Kahlen , Klee, Eric W. , Schimmenti, Lisa A. , Panwar, Deepak , Klee, Eric, Schimmenti, Lisa A , Vairo, Filippo , Wilke, Matheus V M B , Panwar, Deepak, Verheijen, Johannes M., Thurman, Sarah , Nickels, Katherine , Murakami, Yoshiko , Vairo, Filippo Pinto e

American Journal of Medical Genetics Part A | August 13, 2025 | Volume: 200 | Issue: 1 | Pages: 171-177

10.1002/ajmg.a.64220 | PMID 40799153 Get It

ABSTRACT Post‐translational modifications, such as glycosylation and phosphorylation, play a critical role in protein trafficking, interactions, and stability. Disruptions in these pathways can lead to glycosylphosphatidylinositol (GPI) deficiencies, which present with a spectrum of clinical features, including congenital anomalies, dysmorphic features, developmental delay, hypotonia, and epilepsy. Biallelic variants in PIGV , a key mannosyltransferase in GPI biosynthesis, cause Hyperphosphatasia with Impaired Intellectual Development Syndrome 1 (HPMRS1), a rare disorder characterized by hyperphosphatasia, seizures, developmental delay, hypotonia, abnormal MRI findings, and distinct facial dysmorphisms. Fewer than 30 cases have been reported to date. We conducted a case study and literature review; with clinical data obtained from medical records. A 2‐year‐old female presented with developmental delay, myoclonic epilepsy, hypotonia, and mild facial dysmorphism. Laboratory results showed elevated alkaline phosphatase (899 U/L) and low pyridoxal 5′‐phosphate levels in cerebrospinal fluid (CSF). Brain MRI revealed diffuse cerebral volume loss and ventriculomegaly. Trio genome sequencing identified two PIGV variants: c.1415T>C‐p.(Leu472Pro) and c.524T>C‐p.(Leu175Pro). Functional studies using PIGV ‐knockout HEK293 cells transfected with wild‐type or mutant PIGV constructs demonstrated reduced GPI‐anchored protein (GPI‐AP) expression under weaker promoters, indicating impaired enzymatic activity. We report two novel PIGV variants associated with HPMRS1, emphasizing the value of functional assays in variant interpretation. Our findings also highlight the diagnostic relevance of alkaline phosphatase measurement in patients with refractory seizures.
SAR Consensus Recommendations for Defining Small Bowel Crohn Disease Strictures at CT and MR Enterography
Dillman, Jonathan R. , Fidler, Jeff L. , Anupindi, Sudha A. , Fulmer, Clifton G. , Gordon, Ilyssa O. , Bruining, David H. , Deepak, Parakkal , Abualruz, Abdul Rahman , Al-Hawary, Mahmoud M. , Altinmakas, Emre , Guglielmo, Flavius F. , Jaffe, Tracy A. , Rieder, Florian , Baker, Mark E. , Dane, Bari , Dillman, Jonathan R , Fidler, Jeff L. , Anupindi, Sudha A , Fulmer, Clifton , Gordon, Ilyssa O , Bruining, David Henry , Deepak, Parakkal , Abualruz, Abdul-Rahman , Al-Hawary, Mahmoud , Guglielmo, Flavius F , Jaffe, Tracy , Bettenworth, Dominik , Rieder, Florian , Fletcher, Joel G , Baker, Mark E , Rimola, Jordi , Fletcher, Joel G.

Radiology | July 15, 2025 | Volume: 316 | Issue: 1 | Pages: No page available

10.1148/radiol.243123 | PMID 40662968 Get It

This consensus by the Society of Abdominal Radiology Inflammatory Bowel Disease Disease Focused Panel provides an updated imaging-based definition of small bowel Crohn disease stricture for CT and MR enterography.