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Novel Missense DNA Variants in the IL2RG Gene Identified in Slovak X-linked Severe Combined Immunodeficiency Disease Patients: A Case Report.
Cureus
December 2024
Laboratory of Genomic Medicine, GHC GENETICS SK, Comenius University Science Park, Bratislava, SVK.
X-linked severe combined immunodeficiency disease (X-SCID) is a form of inborn errors of immunity (IEI) associated with causal DNA variants of the gene. Patients with X-SCID are characterized by a combination of cellular and humoral immunodeficiencies associated with increased susceptibility to infections. The presented cases constituted two unrelated male patients from the Slovak population.
View Article and Find Full Text PDFOptimizing Propranolol Therapy for Infantile Hemangiomas: The Role of the Multidisciplinary Team.
Cureus
December 2024
Department of Pediatrics, Toranomon Hospital, Tokyo, JPN.
Background: Oral propranolol therapy is currently the first choice for infants with infantile hemangiomas (IHs) requiring systemic treatment. This study aims to evaluate the safety and effectiveness of oral propranolol therapy for IHs and to assess the role of a multidisciplinary medical team in supporting optimal treatment.
Materials And Methods: Clinical data were retrospectively reviewed from medical records in 150 Japanese infants with IH treated with propranolol orally at Toranomon Hospital.
Clinical Diagnoses and Characterization of Patients With Amyloid-Negative Amyloid-Beta, p-Tau, and Neurofilament Light Chain (ATN) Profiles.
Cureus
December 2024
Geriatric and Memory Center, Broadlawns Medical Center, Des Moines, USA.
The novel amyloid-beta, p-Tau, and neurofilament light chain (ATN) classification scheme has become a promising system for clinically detecting and diagnosing Alzheimer's disease (AD). In addition to its utility in Alzheimer's diagnosis and treatment, the ATN framework may also have clinical relevance in identifying non-Alzheimer's pathologies. In this study conducted at Broadlawns Geriatric and Memory Center, 92 amyloid-negative profiles out of 182 patients with an ATN framework were categorized into subjective cognitive impairment (SCI), non-amnestic mild cognitive impairment (non-amnestic MCI), amnestic MCI, Alzheimer's dementia, vascular dementia, mixed dementia, unspecified dementia, or other memory changes based on diagnoses written in the chart.
View Article and Find Full Text PDFNeural deterioration and compensation in visual short-term memory among individuals with amnestic mild cognitive impairment.
Alzheimers Dement
January 2025
Guangdong Provincial Key Laboratory of Brain Function and Disease, Center for Brain and Mental Well-Being, Department of Psychology, Sun Yat-sen University, Guangzhou, China.
Introduction: Visual short-term memory (VSTM) is a critical indicator of Alzheimer's disease (AD), but whether its neural substrates could adapt to early disease progression and contribute to cognitive resilience in amnestic mild cognitive impairment (aMCI) has been unclear.
Methods: Fifty-five aMCI patients and 68 normal controls (NC) performed a change-detection task and underwent multimodal neuroimaging scanning.
Results: Among the atrophic brain regions in aMCI, VSTM performance correlated with the volume of the right prefrontal cortex (PFC) but not the medial temporal lobe (MTL), and this correlation was mainly present in patients with greater MTL atrophy.
A Novel Method for Hemorrhage Control During Laparoscopic Distal Pancreatectomy with Splenic Vessel Preservation: Triple Occlusion.
Ann Surg Oncol
January 2025
Division of Pancreatic Surgery, Department of General Surgery, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
Introduction: Laparoscopic distal pancreatectomy (LDP) has the advantages of reduced blood loss, shorter hospital stays, and a better postoperative quality of life compared with open distal pancreatectomy (ODP). Meanwhile, spleen-preserving laparoscopic distal pancreatectomy is the preferred technique for low-grade malignant and benign tumors located in pancreatic body and tail, since it preserves the immune function of the spleen. The splenic-vessel-preserving (SVP) Kimura technique and splenic vessel resection Warshaw technique are the two primary procedures.
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