Results 81 to 90 of about 2,817,125 (290)

Phenotypic and Genotypic Analysis of Two Rare Cases of ‐‐SEA/‐α4.3 HbH Disease

Journal of Clinical Laboratory Analysis, EarlyView.
We report two unrelated adult patients with rare deletional HbH disease (genotype ‐‐SEA/‐α4.3). This novel 4.3 kb deletion covering the HBA1 gene is accompanied by X‐Y‐Z segment recombination, which was identified by CycloneSEQ long‐read nanopore sequencing.
Weijia Yang, Xiaoyan Huang, Li Zhang, Xiaoqin Yang, Yaya Guo, Qingping Kang, Min Dou, Guijun Huang   +7 more
wiley   +1 more source

Genistein: a natural isoflavone with a potential for treatment of genetic diseases [PDF]

, 2010
Genistein [4 ,5,7-trihydroxyisoflavone or 5,7-dihydroxy-3-(4-hydroxyphenyl)-4H-1-benzopyran-4-one] is a natural isoflavone occurring in many plants known to possess various biological activities, ranging from phyto-oestrogenic to antioxidative actions.
Narajczyk, Magdalena, Kloska, Anna, Moskot, Marta, Piotrowska, Ewa, Węgrzyn, Grzegorz, Dziedzic, Dariusz, Węgrzyn, Alicja, Gabig-Cimińska, Magdalena, Gołębiewska, Izabela, Jakóbkiewicz-Banecka, Joanna, Malinowska, Marcelina   +10 more
core   +1 more source

Renal screening sonography—A comparative study in a Portuguese basic emergency service

Journal of Medical Radiation Sciences, Volume 72, Issue 1, Page 8-16, March 2025.
Renal sonography screening aids in clinical decision‐making for patients with suspected renal colic. This study intends to compare the accuracy and pertinence of sonographic findings obtained by a sonographer in a Basic Emergency Service (BES) with that of radiologists at Referral Hospital (RH) in Portugal. Renal sonography screening was able to detect
Sérgio Miravent, Carmen Jiménez, Narciso Barbancho, Manuel Duarte Lobo, Teresa Figueiredo, Carla Gomes, Ion Ratusneac, João Mário Gonçalves, Corina Hasnas, Rui de Almeida   +9 more
wiley   +1 more source

Congenital short bowel syndrome: Clinical aspects by systematic review

JPGN Reports, EarlyView.
Abstract Objectives Congenital short bowel syndrome (CSBS) is a rare intestinal disorder characterized by inborn shortening of the bowel with mainly mutations in Coxsackie and Adenovirus receptor‐like membrane protein (CLMP) and Filamin A (FLNA) genes.
Barblin Remund, Susanne Schibli, Christiane Sokollik   +2 more
wiley   +1 more source

Increased water intake reduces long-term renal and cardiovascular disease progression in experimental polycystic kidney disease.

PLoS ONE, 2019
Polycystic kidney disease (PKD) is the most common inherited cause of kidney failure and currently has limited treatment options. Increasing water intake reduces renal cyst growth in the pck rat (a genetic ortholog of autosomal recessive PKD) but it is ...
Priyanka S Sagar, Jennifer Zhang, Magda Luciuk, Carly Mannix, Annette T Y Wong, Gopala K Rangan   +5 more
doaj   +1 more source

Current status and prospects of diagnosis and treatment of genetic kidney diseases in Chinese children [PDF]

Zhenduanxue lilun yu shijian
Genetic kidney diseases refer to a broad category of renal disorders associated with genetic etiologies. They are the leading cause of end-stage kidney disease in children and adolescents，accounting for over 25% of pediatric patients requiring renal ...
SHEN Qian
doaj   +1 more source

The Brazilian Alagille syndrome study: New insights from a multicenter national cohort

JPGN Reports, EarlyView.
Abstract Objectives To elucidate the natural history of liver disease and identify the predictors of native liver survival (NLS) in a Brazilian cohort of children with Alagille syndrome (ALGS). Methods Multicenter retrospective cohort study of children with ALGS. Descriptive statistics summarized clinical data.
Elisa Carvalho, Gilda Porta, Irene Kazue Miura, Cristina Helena Targa Ferreira, Luciana Rodrigues Silva, Natascha Silva Sandy, Eleonora Druve Tavares Fagundes, Eliene Oliveira, Aline Falleiros Freitas, Adriana Maria Alves de Tommaso, Regina Sawamura, Melina Utz Melere, Sandra Maria Goncalves Vieira, Renata Belém Pessoa de Melo Seixas, Isadora de Carvalho Trevizoli, Alexandre Rodrigues Ferreira, Adriana Porta Miche Hirschfeld, Renata Pereira Sustovich Pugliese, Cibele Dantas Ferreira Marques, Maria Angela Bellomo Brandão, Raquel Borges Pinto, Leticia Helena Caldas Lopes, Jussara Melo de Cerqueira Maia, Ana Cristina Vieira de Melo, Carolina Sores Silva, Luiza Salgado Nader, Maria Tereza Guiotti, Roberta Vacari Alcântara, Leonardo Resende, Bruno Pereira Ribeiro Rocha, Nilza Maria Medeiros Perin, Adriana Teixeira Rodrigues, Vera Lúcia Baggio Danesi, Gabriel Hessel, Themis Reverbel Silveira   +34 more
wiley   +1 more source

Immunisation in the current management of cystic fibrosis patients. [PDF]

, 2005
Although no special recommendations exist, clearly patients with cystic fibrosis (CF) can benefit from immunisation. We reviewed the literature regarding vaccination in CF and other chronic diseases.
Ciofu, Oana, Dab, Isi, D\uf6ring, Gerd, Bush, Andrew, European Cystic Fibrosis Society (ECFS) Vaccination Group, Adam, Georgios, Lang, Alo\uefs B., Döring, Gerd, Malfroot, Anne, Lang, Aloïs B., Lang, Aloïs B, Knoop, Christiane, Van Damme, Pierre   +12 more
core   +1 more source

Optimized Coherence Masking Improves Ultrasound Imaging of Kidney Cysts

Journal of Ultrasound in Medicine, EarlyView.
Objectives Renal cystic lesions are exceedingly common and typically benign, though accurate diagnostic techniques are required to recognize the subset of malignant lesions that require timely intervention. Ultrasound (US) is the preferred first line test for renal cyst evaluation because it is safe, widely accessible, and low cost. US imaging, however,
Scott Schoen Jr, Theodore T. Pierce, Sai Dhanush Reddy Jeggari, Abder‐Rhaman Ali, Kai E. Thomenius, Michael Wang, Brian Lause, Rimon Tadross, Kathleen Pope, David Hunt, Mary K. Peters, Mike Washburn, Anthony E. Samir   +12 more
wiley   +1 more source

Lysine Methyltransferases SMYD2 and SMYD3: Emerging Targets in Kidney Diseases

Kidney Diseases
Background: The SET and MYND domain-containing (SMYD) protein family is a group of lysine methyltransferases with SET and MYND domains and plays a critical role in regulating gene expression through the methylation of histone and non-histone ...
Xinyu Du, Liyuan Yao, Shougang Zhuang
doaj   +1 more source