- Cystic Fibrosis: Advancing Along the Continuum. [Journal Article]
- JPJ Pediatr Health Care 2018 Oct 24
- Cystic fibrosis (CF) is an autosomal recessive genetic disorder resulting from a mutation in the gene which encodes a cellular transmembrane protein channel known as the CF transmembrane conductance ...
Cystic fibrosis (CF) is an autosomal recessive genetic disorder resulting from a mutation in the gene which encodes a cellular transmembrane protein channel known as the CF transmembrane conductance regulator. Located systemically on the surface of numerous cells, these altered channels yield multisystem dysfunction. Typical manifestations seen are chronic, progressive, obstructive lung disease, pancreatic insufficiency, CF-related diabetes mellitus, malabsorption and malnutrition, liver disease, and infertility. Once considered a pediatric disorder, through developments in innovative care and therapeutic modalities, CF now spans the life continuum and has established itself as an ageless disease. Facing management of maturing-life issues, advanced practice nurses (APNs) in pediatrics now find themselves needing to collaborate with or facilitate transition of care to other APNs, such as nurse midwives and adult APNs, as well as their counterpart specialists in medicine, all while maintaining open communication with the patient, family and managing CF center.
- StatPearls [BOOK]
- BOOKStatPearls Publishing: Treasure Island (FL)
- Fanconi syndrome is a defect of proximal tubule leading to malabsorption of various electrolytes and substances that are usually absorbed by the proximal tubule. It could be an inherited or acquired ...
Fanconi syndrome is a defect of proximal tubule leading to malabsorption of various electrolytes and substances that are usually absorbed by the proximal tubule. It could be an inherited or acquired condition. This condition should not be confused with Fanconi anemia, which is a rare recessive disorder, characterized by pancytopenia, hypoplasia of the bone marrow, patchy brown discoloration of the integument due to melanin deposition, and associated with multiple congenital anomalies. Adults with Fanconi syndrome typically have the acquired type, and children with the syndrome typically have the genetic type. The ability to treat the condition depends on its particular etiology and typically involves addressing the underlying cause, if one exists, and correcting volumetric, nutritional, or electrolytic deficiencies. The definition of "Fanconi syndrome" implies a global defect in the tubule. Whatever solutes the tubule normally reabsorbs do not get reabsorbed adequately in a patient with this syndrome.
- StatPearls [BOOK]
- BOOKStatPearls Publishing: Treasure Island (FL)
- Pancrelipase refers to a class of medications designed to treat malabsorption and abdominal pain secondary to exocrine pancreatic insufficiency. These agents serve as exogenous versions of digestive ...
Pancrelipase refers to a class of medications designed to treat malabsorption and abdominal pain secondary to exocrine pancreatic insufficiency. These agents serve as exogenous versions of digestive hormones and enzymes required for normal digestion. As discussed below, these enzymes are ingested with meals to improve digestion, absorption, and abdominal pain frequently seen in chronic pancreatitis and exocrine pancreatic insufficiency. Pancrelipase can be used in all age groups.
- Celiac Disease: A Review of Current Concepts in Pathogenesis, Prevention, and Novel Therapies. [Review]
- FPFront Pediatr 2018; 6:350
- Our understanding of celiac disease and how it develops has evolved significantly over the last half century. Although traditionally viewed as a pediatric illness characterized by malabsorption, it i...
Our understanding of celiac disease and how it develops has evolved significantly over the last half century. Although traditionally viewed as a pediatric illness characterized by malabsorption, it is now better seen as an immune illness with systemic manifestations affecting all ages. Population studies reveal this global disease is common and, in many countries, increasing in prevalence. These studies underscore the importance of specific HLA susceptibility genes and gluten consumption in disease development and suggest that other genetic and environmental factors could also play a role. The emerging data on viral and bacterial microbe-host interactions and their alterations in celiac disease provides a plausible mechanism linking environmental risk and disease development. Although the inflammatory lesion of celiac disease is complex, the strong HLA association highlights a central role for pathogenic T cells responding to select gluten peptides that have now been defined for the most common genetic form of celiac disease. What remains less understood is how loss of tolerance to gluten occurs. New insights into celiac disease are now providing opportunities to intervene in its development, course, diagnosis, and treatment.
- Metabolic Signatures of Cystic Fibrosis Identified in Dried Blood Spots For Newborn Screening Without Carrier Identification. [Journal Article]
- JPJ Proteome Res 2018 Dec 03
- Cystic fibrosis (CF) is a complex multi-organ disorder that is among the most common fatal genetic diseases benefiting from therapeutic interventions early in life. Newborn screening (NBS) for pre-sy...
Cystic fibrosis (CF) is a complex multi-organ disorder that is among the most common fatal genetic diseases benefiting from therapeutic interventions early in life. Newborn screening (NBS) for pre-symptomatic detection of CF currently relies on a two-stage immunoreactive trypsinogen (IRT) and cystic fibrosis transmembrane conductance regulator (CFTR) mutation panel algorithm that is sensitive, but not specific for identifying affected neonates with a low positive predictive value. For the first time, we report the discovery of a panel of CF-specific metabolites from a single 3.2 mm diameter dried blood spot (DBS) punch when using multisegment injection-capillary electrophoresis-mass spectrometry as a high throughput platform for nontargeted metabolite profiling from volume-restricted/bio-banked specimens with quality control. This retrospective case-control study design identified thirty-two metabolites, including a series of N-glycated amino acids, oxidized glutathione disulfide and nicotinamide that were differentially expressed in normal birth weight CF neonates without meconium ileus (n=36) as compared to gestational age/sex-matched screen-negative controls (n=44) after a false discovery rate adjustment (q < 0.05, FDR). Also, sixteen metabolites from DBS extracts allowed for discrimination of true CF cases from presumptive screen-positive carriers with one identified CFTR mutation and transient neonatal hypertrypsinogenemic neonates (n=72), who were later confirmed as unaffected due to a low sweat chloride (< 29 mM) test result. Importantly, six CF-specific biomarker candidates satisfying a Bonferroni adjustment (p < 7.25 E-5) from three independent batches of DBS specimens included several amino acids depleted in circulation (Tyr, Ser, Thr, Pro, Gly) likely reflecting protein maldigestion/malabsorption. Additionally, CF neonates had lower ophthalmic acid as an indicator of oxidative stress due to impaired glutathione efflux from exocrine/epithelial tissue, and elevation of an unknown trivalent peptide that was directly correlated with IRT (ρ = 0.332, p = 4.55 E-4). Structural elucidation of unknown metabolites was performed by high resolution MS/MS, whereas biomarker validation was realized when comparing a sub-set of metabolites from matching neonatal DBS specimens independently analyzed by direct infusion-MS/MS at an accredited NBS facility. This work sheds new light into the metabolic phenotype of CF early in life, which is required for better functional understanding of CFTR mutations of unknown clinical consequence and the development of more accurate yet cost effective strategies for CF screening.
- Severe gastrointestinal disease in very early systemic sclerosis is associated with early mortality. [Journal Article]
- RRheumatology (Oxford) 2018 Dec 04
- CONCLUSIONS: Severe GI disease is common in early SSc and is associated with significant morbidity and increased mortality. More research is needed to understand, prevent and mitigate severe GI disease in SSc.
- Intravenous zanamivir for influenza myocarditis and enteral malabsorption. [Letter]
- CCCrit Care 2018 Dec 04; 22(1):332
- A cross-sectional study of national outpatient gastric acid suppressant prescribing in the United States between 2009 and 2015. [Journal Article]
- PlosPLoS One 2018; 13(11):e0208461
- CONCLUSIONS: Proton pump inhibitor use increased after 2012, and the majority of gastric acid suppressant users did not have a documented indication. Judicious gastric acid suppressant prescribing needs to be exercised, especially in the context of new safety data regarding long-term proton pump inhibitor use.
- Changing Epidemiology of Liver Involvement in Children with Celiac Disease. [Journal Article]
- JPJ Pediatr Gastroenterol Nutr 2018 Nov 27
- CONCLUSIONS: Liver involvement in celiac children is now less frequent than previously reported, possibly due to changing CD epidemiology. Younger age is the only risk factor. Associated autoimmune liver disease is rare.
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- The Mini-Gastric Bypass original technique. [Journal Article]
- IJInt J Surg 2018 Nov 24; 61:38-41
- CONCLUSIONS: In this article we describe the original Rutledge technique of Mini-Gastric Bypass. Notably this is neither a "Single Anastomosis bypass", nor an "Omega Loop Bypass" and also not the "One Anastomosis Bypass of Carbajo". It is a particular technique first created by Rutledge in 1997 and associated with low risk and excellent outcomes. The goal of this manuscript is to help avoid complications and problems seen when the operation deviates from some of the basic principles of general surgery used in the original operation.