Case report: Shingles-associated probable Bickerstaff brainstem encephalitis with IgM anti-sulfatide positivity
CONCLUSIONS: We emphasize the importance of a careful medical history and assessment of clinical symptoms, performing MRI, testing autoimmune antibodies for rapid diagnosis, and ruling out differential diagnoses. Further studies involving more patients with BBE with IgM anti-sulfatide autoantibodies will increase the understanding of the clinical characteristics and advance the diagnosis and treatment of this syndrome. Meanwhile, it is crucial for dermatologists to know about this severe neurological complication following shingles.PMID:38660303 | PMC:PMC11041370 | DOI:10.3389/fimmu.2024.1358886 (Source: Herpes)
Source: Herpes - April 25, 2024 Category: Infectious Diseases Authors: Xiaoxue Fu Qianli Zhan Linjie Zhang Xiaoyan Tian Source Type: research
Value of Spinal Infection Treatment Evaluation Score, Pola Classification, and Brighton Spondylodiscitis Score from Decision to Surgery in Patients with Spondylodiscitis: A Receiver-Operating Characteristic Curve Analysis
CONCLUSIONS: The findings suggest that the SITE score is a useful measure and helps clinicians make clinically sound decisions in patients with spondylodiscitis.PMID:38650093 | DOI:10.31616/asj.2023.0317 (Source: Asian Spine Journal)
Source: Asian Spine Journal - April 23, 2024 Category: Orthopaedics Authors: Majid Rezvani Ali Ahmadvand Taravat Yazdanian Parisa Azimi Navid Askariardehjani Source Type: research
Spontaneous isolated gastric intramural hematoma combined with spontaneous superior mesenteric artery intermural hematoma: a rare case
Gastric intramural hematoma is a rare disease. Here we report a case of spontaneous isolated gastric intramural hematoma combined with spontaneous superior mesenteric artery intermural hematoma. (Source: BMC Geriatrics)
Source: BMC Geriatrics - April 23, 2024 Category: Geriatrics Authors: Zhenxing Zhang, Shan Wang, Kelong Tao, Guolin Zhang, Danling Guo, Yu Zhang and Guangen Xu Tags: Case Report Source Type: research
Exploration of treatment in childhood Langerhans cell histiocytosis based on inflammatory and malignant symptoms: a pilot study
Multisystem childhood Langerhans cell histiocytosis (LCH) patients, especially those with risk organ (RO) involved, had not been satisfactorily treated under the international traditional schemes as high incid... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 23, 2024 Category: Internal Medicine Authors: Hui-ling Lin, Qing-qing Zheng, Ru-lin Huang, Rong Hu, Xiao-dan Liu and Jia-yi Wang Tags: Research Source Type: research
Exacerbated atherosclerosis in progeria is prevented by progerin elimination in vascular smooth muscle cells but not endothelial cells
Proc Natl Acad Sci U S A. 2024 Apr 30;121(18):e2400752121. doi: 10.1073/pnas.2400752121. Epub 2024 Apr 22.ABSTRACTHutchinson-Gilford progeria syndrome (HGPS) is a rare disease caused by the expression of progerin, a mutant protein that accelerates aging and precipitates death. Given that atherosclerosis complications are the main cause of death in progeria, here, we investigated whether progerin-induced atherosclerosis is prevented in HGPSrev-Cdh5-CreERT2 and HGPSrev-SM22α-Cre mice with progerin suppression in endothelial cells (ECs) and vascular smooth muscle cells (VSMCs), respectively. HGPSrev-Cdh5-CreERT2 mice were un...
Source: Atherosclerosis - April 22, 2024 Category: Cardiology Authors: Ignacio Benedicto Rosa M Carmona Ana Barettino Carla Espin ós-Estévez Pilar Gonzalo Rosa M Nevado Miguel de la Fuente-P érez Mar ía J Andrés-Manzano Cristina Gonz ález-Gómez Lo ïc Rolas Beatriz Dorado Sussan Nourshargh Magda R Hamczyk Vicente Andr Source Type: research
Pregnancy and acromegaly: clinical outcomes of retrospectively analysed data from the German acromegaly registry
CONCLUSION: Pregnancies in women with acromegaly are possible and the course of pregnancy is in general safe for mother and child both with and without specific treatment for acromegaly. The prevalence of concomitant metabolic diseases such as gestational diabetes is comparable to the prevalence in healthy pregnant women. Nevertheless, larger studies with more data in pregnant patients with acromegaly are needed to provide safe and effective care for pregnant women with this condition.PMID:38650041 | PMC:PMC11034139 | DOI:10.1186/s12958-024-01207-9 (Source: Reproductive Biology)
Source: Reproductive Biology - April 22, 2024 Category: Reproduction Medicine Authors: Anke T önjes Marleen W ürfel Marcus Quinkler Ulrich J Knappe J ürgen Honegger Nina Krause-Joppig Konrad Bacher Timo Deutschbein Sylv ère Störmann Jochen Schopohl Sebastian M Meyh öfer participants of the German Acromegaly Registry Source Type: research
Rare genetic cerebrotendinous xanthomatosis cases (CTX) without cholestanol elevation but with prominent cholesterol-rich tendon xanthomas.
Cerebrotendinous xanthomatosis (CTX) is a rare disease attributed to partial or complete loss of the enzyme sterol-27-hydroxylase leading to chenodeoxycholic acid and cholic acid production deficiency, and accumulation of sterol intermediates, mainly cholestanol, in plasma and in several other tissues. The clinical phenotype of CTX greatly varies among patients and includes tendon xanthomas, gallbladder stones, diarrhea, cataracts, and neurological abnormalities 1. The diagnostic identification typically is characterized by an elevated level of plasma cholestanol and identification of CYP27A1 gene variants. (Source: Journa...
Source: Journal of Clinical Lipidology - April 22, 2024 Category: Lipidology Authors: Renato Jorge Alves, Val éria Sutti Nunes, Ney Carter do Carmo Borges Junior, Edna Regina Nakandakare, Eder Carlos Rocha Quintão Tags: Case Study Source Type: research
Pregnancy and acromegaly: clinical outcomes of retrospectively analysed data from the German acromegaly registry
Acromegaly is a rare disease caused by excessive growth hormone (GH) secretion, mostly induced by pituitary adenomas. The care of pregnant women with acromegaly is challenging, in part due to existing clinical... (Source: Reproductive Biology and Endocrinology)
Source: Reproductive Biology and Endocrinology - April 22, 2024 Category: Endocrinology Authors: Anke T önjes, Marleen Würfel, Marcus Quinkler, Ulrich J. Knappe, Jürgen Honegger, Nina Krause-Joppig, Konrad Bacher, Timo Deutschbein, Sylvère Störmann, Jochen Schopohl and Sebastian M. Meyhöfer Tags: Research Source Type: research
The value of knowing: preferences for genetic testing to diagnose rare muscle diseases
Genetic testing can offer early diagnosis and subsequent treatment of rare neuromuscular diseases. Options for these tests could be improved by understanding the preferences of patients for the features of dif... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 22, 2024 Category: Internal Medicine Authors: Carol Mansfield, Marco Boeri, Josh Coulter, Eileen Baranowski, Susan Sparks, Kristina An Haack and Alaa Hamed Tags: Research Source Type: research
Genes, Vol. 15, Pages 516: Syndromic Retinitis Pigmentosa: A 15-Patient Study
This study reviewed the clinical data of 15 patients with syndromic retinitis pigmentosa from a Rare Disease Reference Center in Brazil and the results of their next-generation sequencing tests. Five males and ten females participated, with the mean ages for ocular disease onset, fundoscopic diagnosis, and molecular evaluation being 9, 19, and 29 years, respectively. Bardet–Biedl syndrome (n = 5) and Usher syndrome (n = 3) were the most frequent diagnoses, followed by other rare conditions. Among the patients, fourteen completed molecular studies, with three negative results and eleven revealing findings in k...
Source: Genes - April 20, 2024 Category: Genetics & Stem Cells Authors: Ianne Pessoa Holanda Priscila Hae Hyun Rim Rare Genomes Project Consortium Rare Genomes Project Consortium Mara Sanches Guaragna Vera L úcia Gil-da-Silva-Lopes Carlos Eduardo Steiner Tags: Case Report Source Type: research
A case of synovial chondromatosis of the knee with 87 free bodies and review of literature
CONCLUSIONS: The patient had several synovial chondromas, a rare disease. Synovial chondromatosis is a benign disorder; however, growing synovium can cause pyogenic cartilage nodules. Most loose bodies in joints can abrade and degenerate articular cartilage, causing long-term discomfort. Thus, an early-stage procedure to remove loose bodies and carefully excise synovial tissue is necessary to treat this condition.PMID:38639506 | DOI:10.26355/eurrev_202404_35895 (Source: Pharmacological Reviews)
Source: Pharmacological Reviews - April 19, 2024 Category: Drugs & Pharmacology Authors: P-P Qi Z-W Xu Source Type: research
A case of synovial chondromatosis of the knee with 87 free bodies and review of literature
CONCLUSIONS: The patient had several synovial chondromas, a rare disease. Synovial chondromatosis is a benign disorder; however, growing synovium can cause pyogenic cartilage nodules. Most loose bodies in joints can abrade and degenerate articular cartilage, causing long-term discomfort. Thus, an early-stage procedure to remove loose bodies and carefully excise synovial tissue is necessary to treat this condition.PMID:38639506 | DOI:10.26355/eurrev_202404_35895 (Source: European Review for Medical and Pharmacological Sciences)
Source: European Review for Medical and Pharmacological Sciences - April 19, 2024 Category: Drugs & Pharmacology Authors: P-P Qi Z-W Xu Source Type: research
Effect of Family Centered Pediatric Advance Care Planning for Children with Rare Diseases on Meaning/Peace (CO101B)
1. Know how advance care planning with families of children with rare diseases can improve family caregiver outcomes.2. Understand the impact of race and social determinants of health on family caregiver appraisal of their caregiving and the impact of poverty on family well-being, caregiver distre ss, and anxiety. (Source: Journal of Pain and Symptom Management)
Source: Journal of Pain and Symptom Management - April 19, 2024 Category: Palliative Care Authors: Maureen E. Lyon Source Type: research
