Results 91 to 100 of about 400,898 (240)

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1

Clinical Genetics, EarlyView.
Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do, Thi Thanh Thuy Le, Marjolaine Gauthier, Charlotte Dubucs, Jeremie Mortreux, Pauline Monin, Nicolas Chatron, Françoise Devillard, Charles Coutton, Véronique Satre, Radu Harbuz, William Dufour, Louis Januel, Tristan Celse, Clara Paris, Auragen Consortium, Le Tuyet Mai Tran, Huu Tung Trinh, Pierre‐Simon Jouk, Ba Luu Truong, Thi Kim Nhi Nguyen, Julien Thevenon   +23 more
wiley   +1 more source

Clinical significance of neutrophil chemokines in intestinal tissue and related receptor expression in peripheral blood in neonatal necrotizing enterocolitis

中国当代儿科杂志
ObjectiveTo analyze changes in neutrophil infiltration and chemokines in intestinal tissue from neonates with necrotizing enterocolitis (NEC), and to assess the expression of related receptors in peripheral blood, in order to explore their significance ...
QIN Fan-Yue, DONG Hui-Fang, LIU Ya-Xuan, YAN Qing, HE Li-Na, FU Zhe, WANG Hui-Juan, XU Fa-Lin   +7 more
doaj   +1 more source

Liver Organoids: From Disease Modelling to Regenerative Medicine

Cell Proliferation, EarlyView.
Liver organoids provide a versatile platform for disease modelling and drug discovery, leveraging stem cells and engineering techniques. They bridge research and clinical applications, offering significant potential for advancing precision medicine and regenerative therapies for liver diseases.
Tiepeng Wang, Xiaotian Qu, Jinhong Si, Junkang Meng, Ting Zhang, Shuliang Niu   +5 more
wiley   +1 more source

3D transparent technology displays the developmental patterns of ductus arteriosus morphology in chicken embryos before and after birth

Journal of Anatomy, EarlyView.
At the eighth week of human embryonic development, 3D transparent imaging enables clear visualization of the outflow tract's morphological features, revealing its anatomical components in detail. Abstract The ductus arteriosus (DA) is a critical fetal vascular structure that shunts blood from the pulmonary artery to the aorta, bypassing the non ...
Conghong Xu, Lidi Li, Xiu Wu, Yanli Zhang, Chuanye Wu, Juan Chen, Haihua Gao, Zhenglai Ma   +7 more
wiley   +1 more source

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source

Clinical and operative approach of intestinal atresia calves

, 2015
Dünyanın birçok bölgesinde, ruminantlarda kongenital anomalilerle karşılaşıldığı çeşitli araştırıcılar tarafından bildirilmiştir. 2005-2014 yılları arasında kliniğimize kabul edilen 43 buzağıda intestinal atresia’lar gözlenmiş ve çalışmaya dahil edilen ...
Göksel, Berk Alp
core   +1 more source

Hypermanganesemia in Children With Liver and Portosystemic Circulation Disorders: A Systematic Review

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim Children with chronic liver disease and portosystemic circulation disorders may have long‐term neurocognitive problems. Hypermanganesemia, reported in this group, could be a contributor. This systematic review aimed to characterise liver and portosystemic circulation disorders associated with hypermanganesemia and reported neurocognitive ...
Helena J. Kim, Susan M. Siew, Ji Hyun Moon, Tracey A. Williams, S. Murthy Chennapragada, Gordon Thomas, Shekeeb S. Mohammad   +6 more
wiley   +1 more source

Jejunal atresia associated with idiopathic ileal perforation

Journal of Indian Association of Pediatric Surgeons, 2008
Jejunoileal atresia is one of the common causes of neonatal intestinal obstruction. Intestinal perforation with meconium peritonitis in the neonatal period, which carries a high mortality rate, is also common.
Das P, Rai Rakesh, Lobo Grover
doaj  

Whirl Pattern Complex Gastroschisis [PDF]

Iranian Journal of Neonatology
Background: Complex gastroschisis is a rare variant characterized by intrauterine closure of the abdominal defect, which can be accompanied by atresia, necrosis, and, in most cases, lead to short bowel syndrome.
Andrés Felipe Rubio Duarte, Mónica Beltrán-Avendaño, Daniella Chacón-Valenzuela   +2 more
doaj   +1 more source

Clinical Significance of Organ Preservation Fluid Cultures in Pediatric Abdominal Solid Organ Transplantation

Transplant Infectious Disease, EarlyView.
In this pediatric abdominal solid organ transplant cohort, preservation fluid‐related infections were rare but occurred in infant liver transplant recipients whose preservation fluid cultures grew pathogenic organisms. These findings suggest that routine bacterial preservation fluid cultures may be most useful for identifying clinically significant ...
Hassan A. Jamal, Yong K. Kwon, Pamela L. Valentino, Jodi M. Smith, Patrick J. Healey, Zheyi Teoh   +5 more
wiley   +1 more source