ERBB3 deficiency causes a multisystemic syndrome in human patient and zebrafish
Clin Genet. 2023 Nov 27. doi: 10.1111/cge.14462. Online ahead of print.ABSTRACTThe Erb-B2 receptor tyrosine kinase 3 (ERBB3) gene was first identified as a cause of lethal congenital contracture syndrome (OMIM 607598), while a recent study reported six additional patients carrying ERBB3 variants which exhibited distinct clinical features with evident intestinal dysmotility (OMIM 243180). The potential connection between these phenotypes remains unknown, and the ERBB3-related phenotype spectrum needs to be better characterized. Here, we described a patient presenting with a multisystemic syndrome including skip segment Hirs...
Source: Clinical Genetics - November 27, 2023 Category: Genetics & Stem Cells Authors: Keqiang Liu Ru Chen Minzhong Zhang Yiming Gong Yong Wang Wei Cai Source Type: research
ERBB3 deficiency causes a multisystemic syndrome in human patient and zebrafish
Clin Genet. 2023 Nov 27. doi: 10.1111/cge.14462. Online ahead of print.ABSTRACTThe Erb-B2 receptor tyrosine kinase 3 (ERBB3) gene was first identified as a cause of lethal congenital contracture syndrome (OMIM 607598), while a recent study reported six additional patients carrying ERBB3 variants which exhibited distinct clinical features with evident intestinal dysmotility (OMIM 243180). The potential connection between these phenotypes remains unknown, and the ERBB3-related phenotype spectrum needs to be better characterized. Here, we described a patient presenting with a multisystemic syndrome including skip segment Hirs...
Source: Clinical Genetics - November 27, 2023 Category: Genetics & Stem Cells Authors: Keqiang Liu Ru Chen Minzhong Zhang Yiming Gong Yong Wang Wei Cai Source Type: research
Impedance planimetry during per-oral endoscopic myotomy is associated with decreased inadvertent capnoperitoneum
ConclusionsThe routine use of EndoFLIP during POEM was associated with decreased incidence of clinically significant capnoperitoneum, potentially due to improved myotomy tailoring and decreased duration of insufflation with shorter procedure times.Graphical abstract (Source: Surgical Endoscopy)
Source: Surgical Endoscopy - November 21, 2023 Category: Surgery Source Type: research
Esophageal motility in systemic sclerosis before and after autologous hematopoietic cell transplantation
ConclusionsHCT appears to have no beneficial effect on motility in patients with unmeasurable peristalsis. In patients with measurable peristalsis, HCT appears to stabilize and in some normalize motility, unless relapse occurs.Key Points•In patients with systemic sclerosis, esophageal dysmotility is a significant contributor to morbidity and so far, there has been no data describing the effects of hematopoietic cell transplantation on esophageal motility.•Our work demonstrated that in patients with systemic sclerosis and unmeasurable esophageal peristalsis prehematopoietic cell transplantation, there was no measurable ...
Source: Clinical Rheumatology - November 15, 2023 Category: Rheumatology Source Type: research
The importance of providing dietary fiber in medical and surgical critical care
Nutr Clin Pract. 2023 Nov 10. doi: 10.1002/ncp.11092. Online ahead of print.ABSTRACTThe early provision of soluble/insoluble fiber to the patient who is critically ill has been controversial in the past. Especially in the setting of hemodynamic instability, dysmotility, or impaired gastrointestinal transit, fear of inspissation of formula with precipitation of nonocclusive mesenteric ischemia (NOMI)/nonocclusive bowel necrosis (NOBN) limited its utilization by medical and surgical intensivists. The incidence of NOMI/NOBN has been estimated at 0.2%-0.3% for all intensive care unit (ICU) patients receiving enteral nutrition ...
Source: Nutrition in Clinical Practice - November 10, 2023 Category: Nutrition Authors: Stephen A McClave Endashaw Omer Mohamed Eisa Abby Klosterbauer Cynthia C Lowen Robert G Martindale Source Type: research
The importance of providing dietary fiber in medical and surgical critical care
Nutr Clin Pract. 2023 Nov 10. doi: 10.1002/ncp.11092. Online ahead of print.ABSTRACTThe early provision of soluble/insoluble fiber to the patient who is critically ill has been controversial in the past. Especially in the setting of hemodynamic instability, dysmotility, or impaired gastrointestinal transit, fear of inspissation of formula with precipitation of nonocclusive mesenteric ischemia (NOMI)/nonocclusive bowel necrosis (NOBN) limited its utilization by medical and surgical intensivists. The incidence of NOMI/NOBN has been estimated at 0.2%-0.3% for all intensive care unit (ICU) patients receiving enteral nutrition ...
Source: Nutrition in Clinical Practice - November 10, 2023 Category: Nutrition Authors: Stephen A McClave Endashaw Omer Mohamed Eisa Abby Klosterbauer Cynthia C Lowen Robert G Martindale Source Type: research
The importance of providing dietary fiber in medical and surgical critical care
Nutr Clin Pract. 2023 Nov 10. doi: 10.1002/ncp.11092. Online ahead of print.ABSTRACTThe early provision of soluble/insoluble fiber to the patient who is critically ill has been controversial in the past. Especially in the setting of hemodynamic instability, dysmotility, or impaired gastrointestinal transit, fear of inspissation of formula with precipitation of nonocclusive mesenteric ischemia (NOMI)/nonocclusive bowel necrosis (NOBN) limited its utilization by medical and surgical intensivists. The incidence of NOMI/NOBN has been estimated at 0.2%-0.3% for all intensive care unit (ICU) patients receiving enteral nutrition ...
Source: Nutrition in Clinical Practice - November 10, 2023 Category: Nutrition Authors: Stephen A McClave Endashaw Omer Mohamed Eisa Abby Klosterbauer Cynthia C Lowen Robert G Martindale Source Type: research
The importance of providing dietary fiber in medical and surgical critical care
Nutr Clin Pract. 2023 Nov 10. doi: 10.1002/ncp.11092. Online ahead of print.ABSTRACTThe early provision of soluble/insoluble fiber to the patient who is critically ill has been controversial in the past. Especially in the setting of hemodynamic instability, dysmotility, or impaired gastrointestinal transit, fear of inspissation of formula with precipitation of nonocclusive mesenteric ischemia (NOMI)/nonocclusive bowel necrosis (NOBN) limited its utilization by medical and surgical intensivists. The incidence of NOMI/NOBN has been estimated at 0.2%-0.3% for all intensive care unit (ICU) patients receiving enteral nutrition ...
Source: Nutrition in Clinical Practice - November 10, 2023 Category: Nutrition Authors: Stephen A McClave Endashaw Omer Mohamed Eisa Abby Klosterbauer Cynthia C Lowen Robert G Martindale Source Type: research
The importance of providing dietary fiber in medical and surgical critical care
Nutr Clin Pract. 2023 Nov 10. doi: 10.1002/ncp.11092. Online ahead of print.ABSTRACTThe early provision of soluble/insoluble fiber to the patient who is critically ill has been controversial in the past. Especially in the setting of hemodynamic instability, dysmotility, or impaired gastrointestinal transit, fear of inspissation of formula with precipitation of nonocclusive mesenteric ischemia (NOMI)/nonocclusive bowel necrosis (NOBN) limited its utilization by medical and surgical intensivists. The incidence of NOMI/NOBN has been estimated at 0.2%-0.3% for all intensive care unit (ICU) patients receiving enteral nutrition ...
Source: Nutrition in Clinical Practice - November 10, 2023 Category: Nutrition Authors: Stephen A McClave Endashaw Omer Mohamed Eisa Abby Klosterbauer Cynthia C Lowen Robert G Martindale Source Type: research
The importance of providing dietary fiber in medical and surgical critical care
Nutr Clin Pract. 2023 Nov 10. doi: 10.1002/ncp.11092. Online ahead of print.ABSTRACTThe early provision of soluble/insoluble fiber to the patient who is critically ill has been controversial in the past. Especially in the setting of hemodynamic instability, dysmotility, or impaired gastrointestinal transit, fear of inspissation of formula with precipitation of nonocclusive mesenteric ischemia (NOMI)/nonocclusive bowel necrosis (NOBN) limited its utilization by medical and surgical intensivists. The incidence of NOMI/NOBN has been estimated at 0.2%-0.3% for all intensive care unit (ICU) patients receiving enteral nutrition ...
Source: Nutrition in Clinical Practice - November 10, 2023 Category: Nutrition Authors: Stephen A McClave Endashaw Omer Mohamed Eisa Abby Klosterbauer Cynthia C Lowen Robert G Martindale Source Type: research
