Human gut-associated Bifidobacterium species salvage exogenous indole, a uremic toxin precursor, to synthesize indole-3-lactic acid via tryptophan.

Human gut-associated Bifidobacterium species salvage exogenous indole, a uremic toxin precursor, to synthesize indole-3-lactic acid via tryptophan.

Fuente:Gut Microbes

Extracto: Indole, which has been assumed to be an end-product of tryptophan metabolism, may thus act as a precursor for the synthesis of a host-interacting metabolite with possible beneficial activities in the complex gut microbial ecosystem.

Claves:Bifidobacterium, Indole, aldh, indole-3-lactic acid, trpB, tryptophan

Cita:Gut Microbes 2024 Jan-Dec; 16 (1) : 2347728.

Autor/es:Yong, Cheng Chung (a)
Sakurai, Takuma (b)

institución:(a) Innovative Research Institute, Morinaga Milk Industry Co Ltd, Zama, Kanagawa, Japan.
(b) Innovative Research Institute, Morinaga Milk Industry Co Ltd, Zama, Kanagawa, Japan.

Conflicto:B. longum BB536, B. breve MCC1274 and M-16 V, and B. infantis M-63 are commercialized strains. All authors except for AN, ToK, MS, TA, and TaK are employees of Morinaga Milk Industry Co., Ltd. Employment of MS at Kyoto University is in part supported by Morinaga Milk Industry Co., Ltd.

Formato:Informe impreso

Idioma:Inglés

País de fuente:EE.UU.

Sitio web:http://dx.doi.org/10.1080/19490976.2024.2347728

Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology.

Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology.

Fuente:Frontiers in Endocrinology

Extracto: Algorithms to guide the diagnostic approach and recommendations to manage patients with rare forms of hereditary rickets are proposed.

Claves:hereditary rickets, management, non-hereditary rickets, nutritional rickets, treatment

Cita:Front Endocrinol (Lausanne) 2024; 15 : 1383681.

Autor/es:Baroncelli, Giampiero I (a)
Comberiati, Pasquale (b)

institución:(a) Pediatric and Adolescent Endocrinology, Division of Pediatrics, Department of Obstetrics, Gynecology and Pediatrics, University Hospital, Pisa, Italy.
(b) Pediatric and Adolescent Endocrinology, Division of Pediatrics, Department of Obstetrics, Gynecology and Pediatrics, University Hospital, Pisa, Italy.

Conflicto:The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3389/fendo.2024.1383681

Transcriptional profiles associated with coronary artery disease in type 2 diabetes mellitus.

Fuente:Frontiers in Endocrinology

Extracto: The study findings indicate the involvement of innate immunity in the development of T2DM-CAD, and potential immunity markers can reflect the occurrence of this injury. Further studies can verify the mechanistic hypothesis and use of the markers.

Claves:coronary artery disease, differential gene expression, pathway analysis, transcriptomics, type 2 diabetes mellitus

Cita:Front Endocrinol (Lausanne) 2024; 15 : 1323168.

Autor/es:Nevado, Jose B Jr (a)
Cutiongco-de la Paz, Eva Maria C (b)

institución:(a) Institute of Human Genetics, National Institutes of Health-University of the Philippines Manila, Manila, Philippines.
(b) Institute of Human Genetics, National Institutes of Health-University of the Philippines Manila, Manila, Philippines.

Conflicto:The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3389/fendo.2024.1323168

Challenges in autoimmune polyendocrine syndrome type 2 with the full triad induced by anti-programmed cell death 1

Challenges in autoimmune polyendocrine syndrome type 2 with the full triad induced by anti-programmed cell death 1

Fuente:Frontiers in Immunology

Tipo de trabajo:Revisión

Extracto: Different components of APS-2 may appear at different time points after anti-PD1 administration, and can be acute and life-threatening. A good prognosis can be obtained by appropriate replacement with multiple hormones. INSIGHTS: With the clinical application of ICPis to APS-2, the complexity of its treatment should be paid enough attention.

Claves:adrenal crisis, adrenal insufficiency, anti-programmed cell death protein 1, autoimmune polyendocrine syndrome type 2, hypothyroidism, type 1 diabetes mellitus

Cita:Front Immunol 2024; 15 : 1366335.

Autor/es:Pan, Qin (a)
Li, Ping (b)

institución:(a) Department of Endocrinology, Chengdu Eighth People's Hospital (Geriatric Hospital of Chengdu Medical College), Chengdu, Sichuan, China.
(b) Department of Endocrinology, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China.

Conflicto:The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3389/fimmu.2024.1366335

Antenatal oral glucose tolerance test abnormalities in the prediction of future risk of postpartum diabetes in women with gestational diabetes: Results from the LIVING study.

Antenatal oral glucose tolerance test abnormalities in the prediction of future risk of postpartum diabetes in women with gestational diabetes: Results from the LIVING study.

Fuente:Journal of Diabetes

Tipo de trabajo:Estudio aleatorizado y controlado

Extracto: Risk of diabetes varied significantly depending upon the type and number of abnormal values on antenatal OGTT. These data may inform future precision medicine approaches such as risk prediction models in identifying women at higher risk and may guide future targeted interventions.

Claves:South Asia, antenatal OGTT, gestational diabetes mellitus, postpartum, risk prediction, type 2 diabetes mellitus

Cita:J Diabetes 2024 May; 16 (5) : e13559.

Autor/es:Gupta, Yashdeep (a)
Kapoor, Deksha (b)

institución:(a) Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India.
(b) Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi, India.

Formato:Informe impreso

Idioma:Inglés

País de fuente:Australia

Sitio web:http://dx.doi.org/10.1111/1753-0407.13559

Active surveillance is a feasible and safe strategy in selected patients with papillary thyroid cancer and suspicious cervical lymph nodes detected after thyroidectomy.

Active surveillance is a feasible and safe strategy in selected patients with papillary thyroid cancer and suspicious cervical lymph nodes detected after thyroidectomy.

Fuente:Archives of Endocrinology and Metabolism

Extracto: In selected patients with PTC and suspicious cervical LNs diagnosed after initial treatment, AS is a feasible and safe strategy as it allows effective identification and treatment of the minority of patients who progress.

Claves:Papillary thyroid carcinoma, active surveillance, locoregional structural disease

Cita:Arch Endocrinol Metab 2024 May 6; 68 : e230146.

Autor/es:Solórzano, Marlín (a)
Lustig, Nicole (b)

institución:(a) Departamento de Endocrinología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
(b) Centro de estudios traslacionales de Endocrinología (Cetren) UC, Santiago, Chile.

Conflicto:Disclosure: Marlin Solorzano, Nicole Lustig, Lorena Mosso, Martín Espinoza, Roberto Santana, Pablo H. Montero, and Jose M. Domínguez have nothing to disclose. Hernan E. Gonzalez holds shares in GeneproDx.

Formato:Informe impreso

Idioma:Inglés

País de fuente:Brasil

Sitio web:http://dx.doi.org/10.20945/2359-4292-2023-0146

Gender-based heterogeneity of FAHFAs in trained runners.

Gender-based heterogeneity of FAHFAs in trained runners.

Fuente:Plos One

Extracto: Baseline circulating FAHFA concentrations could signal sub-clinical metabolic dysfunction in metabolically healthy obesity.

Cita:PLoS One 2024; 19 (5) : e0300037.

Autor/es:Nelson, Alisa B (a)
Chow, Lisa S (b)

institución:(a) Division of Molecular Medicine, Department of Medicine, University of Minnesota, Minneapolis, MN, United States of America.
(b) Division of Diabetes, Endocrinology and Metabolism, Department of Medicine, University of Minnesota, Minneapolis, MN, United States of America.

Conflicto:P.A.C. has served as an external consultant for Pfizer, Inc., Abbott Laboratories, Janssen Research & Development and Selah Therapeutics. I confirm that these competing interest do not alter our adherence to PLOS ONE policy on sharing data and material.

Formato:Informe virtual

Idioma:Inglés

País de fuente:EE.UU.

Sitio web:http://dx.doi.org/10.1371/journal.pone.0300037

Detection of clonal plasma cells in POEMS syndrome using multiparameter flow cytometry.

Detection of clonal plasma cells in POEMS syndrome using multiparameter flow cytometry.

Fuente:Scientific Reports

Extracto: POEMS-flow can enhance the identification rate of monoclonal PCs in POEMS syndrome and become a valuable tool for the diagnosis of POEMS syndrome.

Claves:EuroFlow, Immunophenotype, Multiparameter flow cytometry, POEMS syndrome

Cita:Sci Rep 2024 May 6; 14 (1) : 10362.

Autor/es:Ishii, Arata (a)
Tsukamoto, Shokichi (b)

institución:(a) Department of Hematology, Chiba University Hospital, Chiba, Japan.
(b) Department of Endocrinology, Hematology, and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan.

Conflicto:HT received research funding and consulting fees from SRL, Inc. The remaining authors declare no competing financial interests.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1038/s41598-024-61034-1

Summary of clinical investigation plan for The DIATEC trial

Summary of clinical investigation plan for The DIATEC trial

Fuente:Bmc Endocrine Disorders

Tipo de trabajo:Estudio aleatorizado y controlado

Extracto: TRIAL REGISTRATION: Prospectively registered at ClinicalTrials.gov with identification number NCT05803473 on March 27(th) 2023.

Claves:Continuous glucose monitoring, Diabetes, In-hospital, Inpatient, RCT

Cita:BMC Endocr Disord 2024 May 6; 24 (1) : 60.

Autor/es:Olsen, Mikkel Thor (a)
Klarskov, Carina Kirstine (b)

institución:(a) Department of Endocrinology and Nephrology, Copenhagen University Hospital - North Zealand, Hilleroed, Denmark. mikkel.thors@gmail.com.
(b) Department of Endocrinology and Nephrology, Copenhagen University Hospital - North Zealand, Hilleroed, Denmark.

Conflicto:MTO: None; CK: None; UPB: Has received speakers fee from Sanofi and Novo Nordisk and has served on advisory boards for Sanofi, Novo Nordisk, and Vertex; KBH: None; PLK: Has received speakers fee from Sanofi, Novo Nordisk, Boehringer Ingelheim, and AstraZeneca.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1186/s12902-024-01595-4

Diagnostic value of retinol-binding protein 4 in diabetic nephropathy

Diagnostic value of retinol-binding protein 4 in diabetic nephropathy

Fuente:Frontiers in Endocrinology

Tipo de trabajo:Revisión sistemática

Extracto: Our findings suggest that RBP4 has a promising diagnostic value with good sensitivity and specificity for patients with T2DM with DN.

Claves:biomarkers, diabetic nephropathy, diagnosis, meta-analysis, retinol-binding protein 4

Cita:Front Endocrinol (Lausanne) 2024; 15 : 1356131.

Autor/es:Cao, Xiaodan (a)
Zhong, Guanghui (b)

institución:(a) Department of Clinical Laboratory, Ningbo Municipal Hospital of Traditional Chinese Medicine, Affiliated to Zhejiang Chinese Medical University, Ningbo, China.
(b) Department of Nephrology, Ningbo Municipal Hospital of Traditional Chinese Medicine, Affiliated to Zhejiang Chinese Medical University, Ningbo, China.

Conflicto:The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3389/fendo.2024.1356131

Association between a metabolic score for insulin resistance and hypertension: results from National Health and Nutrition Examination Survey 2007-2016 analyses.

Fuente:Frontiers in Endocrinology

Extracto: The findings of this study revealed a significant positive association between METS-IR and hypertension among US adults, suggesting METS-IR as a potential tool for assessing hypertension risk.

Claves:NHANES, hypertension, insulin resistance, metabolic score for insulin resistance (METS-IR), metabolic syndrome

Cita:Front Endocrinol (Lausanne) 2024; 15 : 1369600.

Autor/es:Zeng, Jing (a)
Zhang, Tingting (b)

institución:(a) Department of Endocrinology, Fifth Medical Center of Chinese PLA General Hospital, Beijing, China.
(b) Department of Endocrinology, Fifth Medical Center of Chinese PLA General Hospital, Beijing, China.

Conflicto:The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3389/fendo.2024.1369600

Osteoporosis in Parkinson's disease and the role of lean body mass: a cross-sectional study in a Brazilian tertiary center.

Fuente:Frontiers in Endocrinology

Tipo de trabajo:Guía

Extracto: Our findings provide additional evidence for the protective role of lean mass against osteoporosis in patients with PD.

Claves:Parkinson’s disease, falls, osteopenia, osteoporosis, sarcopenia

Cita:Front Endocrinol (Lausanne) 2024; 15 : 1326212.

Autor/es:Lima, Danielle Pessoa (a)
Chagas-Neto, Francisco Abaeté das (b)

institución:(a) Division of Geriatrics, Department of Clinical Medicine, Universidade Federal do Ceará, Fortaleza, Ceará, Brazil.
(b) Department of Health Sciences, Medical School of Universidade de Fortaleza, Fortaleza, Ceará, Brazil.

Conflicto:The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3389/fendo.2024.1326212

Association of plasma trans fatty acid concentrations with blood pressure and hypertension in U.S. adults.

Fuente:Frontiers in Endocrinology

Extracto: Our findings provide preliminary evidence that plasma TFA concentrations are associated with increased blood pressure and the risk of hypertension in US adults. This study also suggests that linolelaidic acid might exhibit more deleterious effects on hypertension than other TFAs. Further studies should be conducted to validate these results.

Claves:Bayesian Kernel Machine Regression, NHANES, United States, blood pressure, hypertension, trans fatty acids

Cita:Front Endocrinol (Lausanne) 2024; 15 : 1373095.

Autor/es:Luan, Min (a)
Tian, Youping (b)

institución:(a) Clinical Research Center, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
(b) National Management Office of Neonatal Screening Project for Congenital Heart Disease (CHD), Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.

Conflicto:The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3389/fendo.2024.1373095

Evaluating the correlation of sclerostin levels with obesity and type 2 diabetes in a multiethnic population living in Kuwait.

Fuente:Frontiers in Endocrinology

Extracto: The observed correlations of SOST with various clinical parameters suggest its significant role in the diabetic milieu, particularly pronounced in the South Asian population compared to other ethnic groups.

Claves:SOST, T2DM, bone metabolism, ethnicity, gender, obesity

Cita:Front Endocrinol (Lausanne) 2024; 15 : 1392675.

Autor/es:Alramah, Tahani (a)
Cherian, Preethi (b)

institución:(a) Department of Biochemistry and Molecular Biology, Dasman Diabetes Institute, Dasman, Kuwait.
(b) Department of Biochemistry and Molecular Biology, Dasman Diabetes Institute, Dasman, Kuwait.

Conflicto:The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3389/fendo.2024.1392675

Effectiveness of an Artificial Intelligence-Assisted App for Improving Eating Behaviors: Mixed Methods Evaluation.

Effectiveness of an Artificial Intelligence-Assisted App for Improving Eating Behaviors: Mixed Methods Evaluation.

Fuente:Journal of Medical Internet Research

Extracto: eTRIP is a feasible and effective weight management program to be tested in a larger population for its effectiveness and sustainability as a personalized weight management program for people with overweight and obesity. TRIAL REGISTRATION: ClinicalTrials.gov NCT04833803; https://classic.clinicaltrials.gov/ct2/show/NCT04833803.

Claves:anxiety, app, applications, apps, artificial intelligence, chatbot, chatbots, consideration of future consequences, conversational agent, conversational agents, depression, diet, dietary, eating, eating behavior, food, food consumption, healthy eating, mHealth, mental health, mobile health, obese, obesity, overweight, self-monitoring, self-regulation, weight, weight loss

Cita:J Med Internet Res 2024 May 7; 26 : e46036.

Autor/es:Chew, Han Shi Jocelyn (a)
Chew, Nicholas Ws (b)

institución:(a) Alice Lee Centre for Nursing Studies, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.
(b) Department of Cardiology, National University Hospital, Singapore, Singapore.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Canadá

Sitio web:http://dx.doi.org/10.2196/46036

Determinants of mosaic chromosomal alteration fitness.

Determinants of mosaic chromosomal alteration fitness.

Fuente:Nature Communications

Extracto: In a cross-sectional analysis, genome-wide association study of estimates of mCA expansion rate identified a TCL1A locus variant associated with mCA clonal expansion rate, with suggestive variants in NRIP1 and TERT.

Cita:Nat Commun 2024 May 7; 15 (1) : 3800.

Autor/es:Pershad, Yash (a)
Mack, Taralynn (b)

institución:(a) Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.
(b) Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.

Conflicto:A.G.B. and S.J. are cofounders, equity holders, and on the scientific advisory board of TenSixteen Bio. M.H.C. has received grant support from Bayer. B.M.P. serves on the Steering Committee of the Yale Open Data Access Project funded by Johnson & Johnson. Stanford University has filed a patent application for the use of PACER to identify therapeutic targets on which S.J.,... A.G.B. and J.S.W. are inventors (US patent 63/141,333). The patent has been licensed to TenSixteen Bio. L.M.R. is a consultant for the NHLBI TOPMed Administrative Coordinating Center (through Westat). S.S. Rich is a consultant to Westat for NHLBI TOPMed. In the past three years, E.K.S. received grant support from Bayer and Northpond Laboratories. All other authors declare that they have no competing interests.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1038/s41467-024-48190-8

Partial hypopituitarism with ACTH deficiency as the main manifestation as a complication of hemorrhagic fever with renal syndrome.

Partial hypopituitarism with ACTH deficiency as the main manifestation as a complication of hemorrhagic fever with renal syndrome.

Fuente:Bmc Endocrine Disorders

Extracto: Here, we firstly describe a patient with partial hypopituitarism with ACTH deficiency as the main manifestation as a complication of hemorrhagic fever with renal syndrome.

Claves:ACTH deficiency, Fatigue, Hemorrhagic fever with renal syndrome (HFRS), Hypopituitarism

Cita:BMC Endocr Disord 2024 May 7; 24 (1) : 61.

Autor/es:Shi, Shaomin (a)
Zhang, Aoni (b)

institución:(a) Department of Endocrinology, Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, 139 JingzhouStreet, Xiangyang, Hubei, 441000, China.
(b) Department of Endocrinology, Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, 139 JingzhouStreet, Xiangyang, Hubei, 441000, China.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1186/s12902-024-01587-4

A proposed simplified definition of metabolic syndrome in children and adolescents: a global perspective.

A proposed simplified definition of metabolic syndrome in children and adolescents: a global perspective.

Fuente:Bmc Medicine

Extracto: The ROC curve analyses showed a good agreement between the simplified definition and two existing definitions: the total area under the curve (95% confidence interval) of the proposed simplified definition for identifying MetS risk achieved 0.91 (0.89-0.92) and 0.79 (0.78-0.81) when using the IDF or NCEP definition as the gold standard, respectively.The proposed simplified definition may be useful for pediatricians to quickly identify MetS risk and cardiometabolic risk factors (CMRFs) clustering in clinical practice, and allow direct comparison of pediatric MetS prevalence across different populations, facilitating consistent pediatric MetS risk monitoring and the development of evidence-based pediatric MetS prevention strategies globally.

Claves:Adolescent, Cardiovascular risk factors, Central obesity, Child, Hypertension, Metabolic syndrome, Waist-to-height ratio

Cita:BMC Med 2024 May 7; 22 (1) : 190.

Autor/es:Zong, Xin'nan (a)
Kelishadi, Roya (b)

institución:(a) Department of Growth and Development, Capital Institute of Pediatrics, Beijing, China.
(b) Department of Epidemiology, School of Public Health, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, China.

Conflicto:Bo Xi is the member of the BMC Medicine editorial board. None of the authors, including Bo Xi, had a role in the peer review or handling of this manuscript. The other authors declare that they have no competing interests.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1186/s12916-024-03406-y

Causal association between low vitamin D and polycystic ovary syndrome: a bidirectional mendelian randomization study.

Causal association between low vitamin D and polycystic ovary syndrome: a bidirectional mendelian randomization study.

Fuente:Journal of Ovarian Research

Extracto: Our findings suggest that genetically predicted lower serum VD level may cause a higher risk of developing PCOS, which may be mediated by increased testosterone production.

Claves:Mendelian randomization, Polycystic ovary syndrome, Testosterone, Vitamin D

Cita:J Ovarian Res 2024 May 7; 17 (1) : 95.

Autor/es:Gao, Bingrui (a)
Zhang, Chenxi (b)

institución:(a) Department of Endocrinology and Metabolism, The Institute of Endocrinology, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Affiliated Hospital of China Medical University, Shenyang, Liaoning, 110000, P.R. China.
(b) Department of Endocrinology and Metabolism, The Institute of Endocrinology, NHC Key Laboratory of Diagnosis and Treatment of Thyroid Diseases, The First Affiliated Hospital of China Medical University, Shenyang, Liaoning, 110000, P.R. China.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1186/s13048-024-01420-5

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.

Fuente:Clinical Epigenetics

Extracto: We describe a girl with clinical presentation suggestive of Temple syndrome resulting from a small paternal 14q32 deletion that led to DLK1 whole-gene deletion, as well as hypermethylation of the maternally methylated DLK1-DMR.

Claves:DLK1, DMR, Deletion, Methylation, Temple syndrome (TS14)

Cita:Clin Epigenetics 2024 May 7; 16 (1) : 62.

Autor/es:Baena, Neus (a)
Monk, David (b)

institución:(a) Genetics Laboratory, Centre de Medicina Genòmica, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain. nbaena@tauli.cat.
(b) Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona, Spain.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Alemania

Sitio web:http://dx.doi.org/10.1186/s13148-024-01652-8