Results 111 to 120 of about 42,616 (245)

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, Volume 7, Issue 2, Page 266-270, May 2026.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley   +1 more source

Serum Alpha-1 Antitrypsin Levels and the Clinical Course of Chronic Obstructive Pulmonary Disease

International Journal of COPD, 2019
Nozomu Takei,1,* Masaru Suzuki,1,* Hironi Makita,2 Satoshi Konno,1 Kaoruko Shimizu,1 Hiroki Kimura,1 Hirokazu Kimura,1 Masaharu Nishimura1,2 1Department of Respiratory Medicine, Faculty of Medicine and Graduate School of Medicine, Hokkaido University ...
Takei N, Suzuki M, Makita H, Konno S, Shimizu K, Kimura H, Kimura H, Nishimura M   +7 more
doaj  

Successful Outcome and Biliary Drainage in an Infant with Concurrent Alpha-1-Antitrypsin Deficiency and Biliary Atresia

Case Reports in Surgery, 2017
We describe the rare instance of concomitant biliary atresia and alpha-1-antitrypsin deficiency and the first documented successful portoenterostomy in this scenario.
Andrew W. Wang, Kimberly Newton, Karen Kling   +2 more
doaj   +1 more source

Feasibility of commercial space manufacturing, production of pharmaceuticals. Volume 1: Executive summary [PDF]

The feasibility of the commercial manufacturing of pharmaceuticals in space is examined. The method of obtaining pharmaceutical company involvement, laboratory results of the separation of serum proteins by the continuous flow electrophoresis process ...

core   +1 more source

When protein losing enteropathy persists: A case series of viral and lymphatic‐associated etiologies

JPGN Reports, Volume 7, Issue 2, Page 227-230, May 2026.
Abstract Protein‐losing enteropathy (PLE) is a rare condition that is characterized by loss of plasma protein in the intestines leading to hypoproteinemia with subsequent peripheral edema and possibly anasarca. The pathophysiology of PLE varies depending on the etiology and involves either intestinal mucosal injury or lymphatic system alterations ...
Natalie Jennings, Antonia C. Rovira, Pamela Castillo Rocha, Janelle Torres, Claudia M. Salgado, Miguel Reyes‐Múgica, Richard N. Arboleda, Fatima S. Hussain   +7 more
wiley   +1 more source

Protein glycosylation in lung cancer from a mass spectrometry perspective

Mass Spectrometry Reviews, Volume 45, Issue 3, Page 455-475, May/June 2026.
ABSTRACT Lung cancer is a severe disease for which better diagnostic and therapeutic approaches are urgently needed. Increasing evidence implies that aberrant protein glycosylation plays a crucial role in the pathogenesis and progression of lung cancer.
Mirjam Balbisi, Simon Sugár, Lilla Turiák   +2 more
wiley   +1 more source

Late Onset Telomere Biology Disorder Presenting With Pancytopenia, Immune Dysregulation, Interstitial Lung Disease and Alopecia

American Journal of Hematology, Volume 101, Issue 6, Page 1196-1200, June 2026.
Bo A. Wan, Hamish Nicolson, Heather A. Leitch, Ryan J. Stubbins, Luke Y. C. Chen, Timothy Murray, Amy Trottier, Anthony Gador   +7 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Reduction in Synaptic Vesicle Protein Abundance but Increased Amounts of Nsg2 and Lpcat1 in Cerebral Cortices Without the Endosomal SNARE Proteins Vti1a and Vti1b

PROTEOMICS, Volume 26, Issue 5, Page 86-97, May 2026.
ABSTRACT Absence of the endosomal SNAREs vti1a and vti1b results in perinatal death and severe neuronal phenotypes in mice, while lack of one of these proteins results in minor phenotypes. Proteomic differences were investigated to obtain a deeper insight into processes in which vti1a and vti1b are involved.
Julia Gottschalk, Katharina Kotschnew, Julia Hahn, Thomas Patschkowski, Gabriele von Fischer von Mollard   +4 more
wiley   +1 more source

Decellularized Aged Bruch's Membrane Confers Unique Biochemical Cues to Retinal Pigment Epithelium for In Vitro Modeling of Age‐Related Macular Degeneration

Aging Cell, Volume 25, Issue 5, May 2026.
A Bruchs membrane (BrM) mimic based on aged decellularized BrM was developed and differentially expressed proteins in aged dECM‐BrM that may provide specific biochemical cues fundamental to model AMD in vitro were identified. RPE culture on aged dECM‐BrM developed certain AMD‐like features including reduced TEER and expression of drusen components ...
Blanca Molins, Mercedes Soledad Nabaes Jodar, Eliandre de Oliveira, Josep Maria Estanyol, Esther Peña, Jaione Bezunartea, María Hernández, Marc Figueras‐Roca, Alfredo Adan   +8 more
wiley   +1 more source