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JOURNAL ARTICLE
Yiying Yang, Huali Zhang, Xiaoyu Xiao, Muyao Guo
Sjogren's syndrome (SS) is a complex systemic autoimmune disease. This study aims to elucidate a humanized NOD-Prkdcscid Il2rgem1 /Smoc (NSG) murine model to better clarify the pathogenesis of SS. NSG female mice were adoptively transferred with 10 million peripheral blood mononuclear cells (PBMCs) through the tail vein from healthy controls (HCs), primary Sjogren's syndrome (pSS), and systemic lupus erythematosus (SLE) patients on D0. The mice were subcutaneously injected with C57/B6j submandibular gland (SG) protein or phosphate-buffered saline on D3, D17 and D31, respectively...
April 18, 2024: DNA and Cell Biology
#2
JOURNAL ARTICLE
Bichen Wang, Deyang Shi, Shuang Yang, Yu Lian, Haoyuan Li, Mutian Cao, Yifei He, Lele Zhang, Chen Qiu, Tong Liu, Wei Wen, Yuanwu Ma, Lei Shi, Tao Cheng, Lihong Shi, Weiping Yuan, Yajing Chu, Jun Shi
Pseudouridine is the most prevalent RNA modification, and its aberrant function is implicated in various human diseases. However, the specific impact of pseudouridylation on hematopoiesis remains poorly understood. In this study, we investigated the role of tRNA pseudouridylation in erythropoiesis and its association with mitochondrial myopathy, lactic acidosis, and sideroblastic anemia syndrome (MLASA) pathogenesis. By utilizing patient-specific induced pluripotent stem cells (iPSCs) carrying a genetic PUS1 mutation and a corresponding mutant mouse model, we demonstrated impaired erythropoiesis in MLASA iPSCs and anemia in the MLASA mouse model...
April 18, 2024: Blood
#3
JOURNAL ARTICLE
Quentin Hennocq, Nicolas Garcelon, Thomas Bongibault, Thomas Bouygues, Sandrine Marlin, Jeanne Amiel, Lucile Boutaud, Maxime Douillet, Stanislas Lyonnet, Vèronique Pingault, Arnaud Picard, Marlèe Rio, Tania Attie-Bitach, Roman H Khonsari, Nathalie Roux
OBJECTIVE: Here we trained an automatic phenotype assessment tool to recognize syndromic ears in two syndromes in fetuses-=CHARGE and Mandibulo-Facial Dysostosis Guion Almeida type (MFDGA)-versus controls. METHOD: We trained an automatic model on all profile pictures of children diagnosed with genetically confirmed MFDGA and CHARGE syndromes, and a cohort of control patients, collected from 1981 to 2023 in Necker Hospital (Paris) with a visible external ear. The model consisted in extracting landmarks from photographs of external ears, in applying geometric morphometry methods, and in a classification step using machine learning...
April 18, 2024: Prenatal Diagnosis
#4
JOURNAL ARTICLE
Ghali Bennani, Soukaina Zahri, Mohamed Khaldi, Ghali Benouna, Abdenasser Drighil, Rachida Habbal
BACKGROUND: Kallmann-Morsier syndrome is a rare disease characterized by the association of congenital gonadotropic deficiency and anosmia or hyposmia. The cardiac manifestations associated with this syndrome are little known. Through this case, we will characterize the cardiac involvement of this disease in the light of what is already described in the literature. CASE PRESENTATION: We report the case of a young patient who presented with a picture of cardiac decompensation revealing restrictive heart disease...
April 18, 2024: Egyptian Heart Journal: EHJ
#5
REVIEW
F Cetani, E Dinoi, L Pierotti, E Pardi
BACKGROUND: Familial primary hyperparathyroidism (PHPT) includes syndromic and non-syndromic disorders. The former are characterized by the occurrence of PHPT in association with extra-parathyroid manifestations and includes multiple endocrine neoplasia (MEN) types 1, 2, and 4 syndromes, and hyperparathyroidism-jaw tumor (HPT-JT). The latter consists of familial hypocalciuric hypercalcemia (FHH) types 1, 2 and 3, neonatal severe primary hyperparathyroidism (NSHPT), and familial isolated primary hyperparathyroidism (FIHP)...
April 18, 2024: Journal of Endocrinological Investigation
#6
REVIEW
Jasper F Nies, Martin Krusche
Fever is a frequent and important symptom in patients with rheumatological diseases and can be an expression of activity of the underlying rheumatological disease. There is great variability in the incidence of fever as a symptom of the disease between individual diseases. The growing understanding of the molecular signatures of the diseases can help to explain these discrepancies: A genetic overactivation of potently pyrogenic cytokines is the reason why fever is nearly always present in autoinflammatory syndromes...
April 18, 2024: Zeitschrift Für Rheumatologie
#7
JOURNAL ARTICLE
Tingting Tang, Jinyu Gao, Xiangyang Pan, Qianqian Tang, Huijuan Long, Zhaohua Liu
Background: Oxidative stress has been implicated in the pathogenesis of polycystic ovarian syndrome (PCOS). To develop novel antioxidant drugs, it is necessary to explore the key regulatory molecules involved in oxidative stress in PCOS. Plasma YKL-40 levels are elevated in patients with PCOS; however, its role remains unclear. Methods: The follicular fluids of 20 women with PCOS and 12 control subjects with normal ovarian function were collected, and YKL-40 in follicular fluids was measured by enzyme-linked immunosorbent assay...
April 18, 2024: Genetic Testing and Molecular Biomarkers
#8
Polina Kostova, Guergana Petrova, Martin Shahid, Vera Papochieva, Dimitrinka Miteva, Ivelina Yordanova, Kossara Drenovska, Irena Bradinova, Camila K Janniger, Robert A Schwartz, Snejina Vassileva
KEY CLINICAL MESSAGE: High-dose intravenous immunoglobulin exhibits great potential in the treatment of Netherton syndrome. ABSTRACT: Netherton syndrome (NS) is a rare autosomal recessive genodermatosis (OMIM #256500) characterized by superficial scaling, atopic manifestations, and multisystemic complications. It is caused by loss-of-function mutations in the SPINK5 gene, which encode a key kallikrein protease inhibitor. There are two subtypes of the syndrome that differ in clinical presentation and immune profile: ichthyosiform erythroderma and ichthyosis linearis circumflexa...
April 2024: Clinical Case Reports
#9
Ekaterina Baron, Chih Ching Wu, Kanchan Gupta, Jessica A Wernberg, Michael T Sheehan, Rohit Sharma
Autosomal dominant hereditary paraganglioma-pheochromocytoma syndrome (HPPS) is a rare genetic disorder characterized by neuroendocrine tumor development associated with pathogenic variants in succinate dehydrogenase (SDH) enzyme complex genes. Particularly, HPPS linked to SDHB mutation poses a significant clinical challenge due to its association with aggressive tumor features and a high risk of malignancy. Our report underscores the diversity in the presentation of patients with SDHB-mutated paraganglioma and the feasibility of managing it with a minimally invasive surgical approach...
March 2024: Curēus
#10
Varsha Jagtap, Anurag Lila, Manjiri Karlekar, Vijaya Sarathi, Tushar Bandgar
Glucocorticoid resistance syndrome is a rare disorder with no genetically proven cases reported from India; in addition, there are no descriptions available regarding its management during pregnancy. A 27-year-old woman, hypertensive since the age of 17 years, presented with hypokalemic paresis. She reported regular menses and acne. On investigation, she had elevated serum cortisol that remained unsuppressed after a low-dose dexamethasone suppression test. Genetic analysis revealed a novel, homozygous missense variant in exon 5 of the NR3C1 gene confirming glucocorticoid resistance syndrome...
April 2024: JCEM Case Rep
#11
JOURNAL ARTICLE
Marianna Nicoletta Rossi, Valentina Matteo, Francesca Diomedi-Camassei, Ester De Leo, Olivier Devuyst, Mohamed Lamkanfi, Ivan Caiello, Elena Loricchio, Francesco Bellomo, Anna Taranta, Francesco Emma, Fabrizio De Benedetti, Giusi Prencipe
Cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene that encodes cystinosin, a ubiquitous lysosomal cystine/H+ antiporter. The hallmark of the disease is progressive accumulation of cystine and cystine crystals in virtually all tissues. At the kidney level, human cystinosis is characterized by the development of renal Fanconi syndrome and progressive glomerular and interstitial damage leading to end-stage kidney disease in the second or third decade of life. The exact molecular mechanisms involved in the pathogenesis of renal disease in cystinosis are incompletely elucidated...
2024: Frontiers in Immunology
#12
George Mason, Rhian Aghajani, Brieanna Dance, Jad Othman, Linda Goodwin, William Stevenson, Naomi Mackinlay
Casitas B-cell lineage (CBL) syndrome is a rare RASopathy known to predispose to CBL-mutated juvenile myelomonocytic leukemia (JMML) in childhood. Adulthood acute myeloid leukemia arising out of a genetic aberrancies consistent with prior CBL-mutated JMML has been twice previously described, but chronic myeloproliferative neoplasia has not. We present a case of progressive myeloproliferative neoplasm in adulthood in the context of CBL syndrome alongside a novel CSF3R variant. We also review pathogenic splice-site mutations in CBL-mutated JMML...
April 2024: EJHaem
#13
JOURNAL ARTICLE
Qianqian Wang, Hong Xu, Wei Yu, Lingjie Sun, Hongguo Zhao, Xue Shi
BACKGROUND Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is an important treatment for severe aplastic anemia (SAA). It is known that SAA can evolve into malignant clonal diseases, such as acute myeloblastic leukemia (AML) or myelodysplastic syndrome. However, the transformation of SAA into AML after allo-HSCT is a rare phenomenon. Here, we report a case of SAA transformed into AML after patient received human leucocyte antigen (HLA)-matched sibling peripheral blood stem cell transplantation...
April 18, 2024: American Journal of Case Reports
#14
JOURNAL ARTICLE
Paige C Arneson-Wissink, Heike Mendez, Katherine Pelz, Jessica Dickie, Alexandra Q Bartlett, Beth L Worley, Stephanie M Krasnow, Robert Eil, Aaron J Grossberg
BACKGROUND: Patients with pancreatic ductal adenocarcinoma (PDAC) often suffer from cachexia, a wasting syndrome that significantly reduces both quality of life and survival. Although advanced cachexia is associated with inflammatory signalling and elevated muscle catabolism, the early events driving wasting are poorly defined. During periods of nutritional scarcity, the body relies on hepatic ketogenesis to generate ketone bodies, and lipid metabolism via ketogenesis is thought to protect muscle from catabolizing during nutritional scarcity...
April 17, 2024: Journal of Cachexia, Sarcopenia and Muscle
#15
Guilherme Diogo Silva, João Vitor Mahler, Sérgio Roberto Pereira da Silva Junior, Leonardo Oliveira Mendonça, Pedro Lucas Grangeiro de Sá Barreto Lima, Paulo Ribeiro Nóbrega, Fernando Kok, Fernando Freua
BACKGROUND: Monogenic autoinflammatory disorders result in a diverse range of neurological symptoms in adults, often leading to diagnostic delays. Despite the significance of early detection for effective treatment, the neurological manifestations of these disorders remain inadequately recognized. METHODS: We conducted a systematic review searching Pubmed, Embase and Scopus for case reports and case series related to neurological manifestations in adult-onset monogenic autoinflammatory diseases...
April 17, 2024: BMC Neurology
#16
JOURNAL ARTICLE
Michal Levy, Eyal Elron, Mordechai Shohat, Shira Lifshitz, Sarit Kahana, Hagit Shani, Anat Grossman, Shirly Amar, Ginat Narkis, Lena Sagi-Dain, Lina Basel-Salmon, Idit Maya
BACKGROUND: Distal Xq28 duplication, or int22h1/int22h2-mediated Xq28 duplication syndrome, leads to cognitive impairment, neurobehavioral issues, and facial dysmorphisms. Existing literature has limited information on clinical traits and penetrance. METHODS: We identified cases of distal Xq28 duplication (chrX: 154,126,575-154,709,680, GRCh37/hg19) through a review of clinical records and microarray reports from five centers, encompassing both postnatal and prenatal cases, with no prior family knowledge of the duplication...
April 18, 2024: Journal of Human Genetics
#17
REVIEW
Tariq Kewan, Maximillian Stahl, Jan Philipp Bewersdorf, Amer M Zeidan
PURPOSE OF REVIEW: Myelodysplastic syndromes/neoplasms (MDS) represent a diverse group of pathologically distinct diseases with varying prognoses and risks of leukemia progression. This review aims to discuss current treatment options for elderly patients with MDS, focusing on patients ineligible for intensive chemotherapy or allogenic hematopoietic stem cell transplantation (HSCT). The challenges associated with treatment in this population and emerging therapeutic prospects are also explored...
April 18, 2024: Current Hematologic Malignancy Reports
#18
JOURNAL ARTICLE
Christina Karazisi, Mikael Dellborg, Karin Mellgren, Kok Wai Giang, Kristofer Skoglund, Peter Eriksson, Zacharias Mandalenakis
OBJECTIVE: Patients with congenital heart disease (CHD) have an increased cancer risk. The aim of this study was to determine cancer-related mortality in CHD patients compared with non-CHD controls, compare ages at cancer diagnosis and death, and explore the most fatal cancer diagnoses. DESIGN: Registry-based cohort study. SETTING AND PARTICIPANTS: CHD patients born between 1970 and 2017 were identified using Swedish Health Registers. Each was matched by birth year and sex with 10 non-CHD controls...
April 17, 2024: BMJ Open
#19
REVIEW
Jacob Pellinen, Emma C Foster, Jo M Wilmshurst, Sameer M Zuberi, Jacqueline French
Epilepsy diagnosis is often delayed or inaccurate, exposing people to ongoing seizures and their substantial consequences until effective treatment is initiated. Important factors contributing to this problem include delayed recognition of seizure symptoms by patients and eyewitnesses; cultural, geographical, and financial barriers to seeking health care; and missed or delayed diagnosis by health-care providers. Epilepsy diagnosis involves several steps. The first step is recognition of epileptic seizures; next is classification of epilepsy type and whether an epilepsy syndrome is present; finally, the underlying epilepsy-associated comorbidities and potential causes must be identified, which differ across the lifespan...
May 2024: Lancet Neurology
#20
JOURNAL ARTICLE
Julie K Wisch, Nicole S McKay, Anna H Boerwinkle, James Kennedy, Shaney Flores, Benjamin L Handen, Bradley T Christian, Elizabeth Head, Mark Mapstone, Michael S Rafii, Sid E O'Bryant, Julie C Price, Charles M Laymon, Sharon J Krinsky-McHale, Florence Lai, H Diana Rosas, Sigan L Hartley, Shahid Zaman, Ira T Lott, Dana Tudorascu, Matthew Zammit, Adam M Brickman, Joseph H Lee, Thomas D Bird, Annie Cohen, Patricio Chrem, Alisha Daniels, Jasmeer P Chhatwal, Carlos Cruchaga, Laura Ibanez, Mathias Jucker, Celeste M Karch, Gregory S Day, Jae-Hong Lee, Johannes Levin, Jorge Llibre-Guerra, Yan Li, Francisco Lopera, Jee Hoon Roh, John M Ringman, Charlene Supnet-Bell, Christopher H van Dyck, Chengjie Xiong, Guoqiao Wang, John C Morris, Eric McDade, Randall J Bateman, Tammie L S Benzinger, Brian A Gordon, Beau M Ances
BACKGROUND: In people with genetic forms of Alzheimer's disease, such as in Down syndrome and autosomal-dominant Alzheimer's disease, pathological changes specific to Alzheimer's disease (ie, accumulation of amyloid and tau) occur in the brain at a young age, when comorbidities related to ageing are not present. Studies including these cohorts could, therefore, improve our understanding of the early pathogenesis of Alzheimer's disease and be useful when designing preventive interventions targeted at disease pathology or when planning clinical trials...
May 2024: Lancet Neurology
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