Results 231 to 240 of about 214,416 (313)

Early Enzyme Replacement Therapy Does Not Prevent the Protein Losing Enteropathy Syndrome in Neurovisceral Gaucher Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello, Mara Cananzi, Annachiara Cavaliere, Christian Loro, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Alberto B. Burlina   +7 more
wiley   +1 more source

Post-operative management of children after lung transplantation. [PDF]

JHLT Open
Schwerk N, Carlens J, Köditz H, Ius F, Avdimiretz N, Hayes D, Solomon M.   +6 more
europepmc   +1 more source

OBLITERATIVE BRONCHIOLITIS FOLLOWING SINGLE-LUNG TRANSPLANTATION–DIAGNOSIS BY SPIROMETRY AND TRANSBRONCHIAL BIOPSY

, 1993
NULL AUTHOR_ID
openalex   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Exploring Factors Associated with Sleep Quality After Lung Transplantation. [PDF]

Prog Transplant
Moon SJE, Kazakoff M, Jones KB, Abdul H, Willey BM, Ren D, Vendetti ML, Dabbs AD, Imes CC.   +8 more
europepmc   +1 more source

circNR3C2 promotes chondrogenic differentiation and cartilage repair of human adipose‐derived stem cells via the hsa‐miR‐647/SOX9 pathway

Animal Models and Experimental Medicine, EarlyView.
The hypothesis diagram illustrates the function and mechanism of circNR3C2: circNR3C2 overexpression can up‐regulate COL2, Aggrecan and SOX9 expression, and regulate chondrogenic differentiation of hADSCs by targeting hsa‐miR‐647. Abstract Background Human adipose‐derived stem cells (hADSCs) are seed cells with application prospects in cartilage repair.
Dabiao Hou, Huajun Wang, Hao Guo, Dongbin Luo, Xiaofei Zheng, Simin Luo   +5 more
wiley   +1 more source

Unlocking the potential of uncontrolled DCD in lung transplantation: A review of 2 decades of experience. [PDF]

JHLT Open
Bello I, Palleschi A, Cypel M, Argudo E, Sandiumenge A.   +4 more
europepmc   +1 more source

Development of an efficient mice model of cancer‐associated cardiac cachexia

Animal Models and Experimental Medicine, EarlyView.
This work establishes a preclinical framework for targeting ubiquitin pathways to mitigate the morbidity of cancer‐related cardiopathy. Our integrated approach delineates a hierarchical progression from subcellular dysfunction to macroscopic cardiac deterioration. These findings mechanistically link tumor‐induced cachexia to cardiac dysfunction through
Shijie Xiong, Huiting Zheng, Teng Wu, Jing Tan, Tongsheng Huang, Conghui Shen, Yuanjun Ji, Mengying Liu, Junhong Wan, Weibin Cai   +9 more
wiley   +1 more source

Caregiver burden in lung transplantation: A review. [PDF]

JHLT Open
Sankar K, Johnson A, McRae K, Rampolla R, Kolaitis NA.   +4 more
europepmc   +1 more source