SUMMARY The time taken for gastric emptying of a liquid (milk) or a semi-liquid (pudding) meal was evaluated in 477 infants and children. These patients were referred for suspected gastro-oesophageal reflux and underwent gastro-oesophageal scintigraphy, prolonged oesophageal pH study, manometric evaluation of the lower oesophageal sphincter pressure, and fibreoptic endoscopy. No difference in gastric emptying was observed in children aged under 3 years, regardless of the presence or absence of the gastro-oesophageal reflux, the pressure of the lower oesophageal sphincter, or the presence of oesophagitis. In children over 6 years, however, gastric emptying was significantly delayed in those presenting with reflux compared with those without reflux; in children over 3 years there was slower gastric emptying in those with a decreased lower oesophageal sphincter pressure compared with those with higher pressure and in those with overt oesophagitis compared with those without oesophagitis. This study suggests that gastro-oesophageal reflux is more severe in childhood than in infancy, probably due to more complex motor disorders affecting the gastric fundus as well as lower oesophageal sphincter function.
Esophagogastric junction contractile integral showed good diagnostic accuracy with high specificity in predicting GERD. LES-CD separation is associated with an increase in acid reflux, but EGJ-CI was associated more strongly with GERD than was EGJ morphology.
Aim. Acute pancreatitis is typically a mild disease, but some patients develop severe courses. Fatty liver changes are seen in patients with acute pancreatitis, but its clinical significance has not been well-studied. We aimed to investigate the relationship between fatty liver and the severity of acute pancreatitis. Methods. Unenhanced CT images of patients with acute pancreatitis were retrospectively reviewed by a radiologist, and mean hepatic and splenic attenuation was measured in Hounsfield units (HU). Fatty liver was defined as mean hepatic/splenic HU < 1. Results. Among 200 patients, fatty liver was found in 67 (33.5%) and nonfatty liver in 133 (66.5%). Compared with patients without fatty liver, the severity of pancreatitis and levels of serum C-reactive protein were higher in fatty liver patients. The prevalence of local complications, persistent organ failure, and mortality were also higher in patients with fatty liver. Even after adjusting for age, sex, body mass index, and cause of pancreatitis, fatty liver was significantly associated with moderately severe or severe acute pancreatitis. Conclusions. Fatty liver may play a prognostic role in acute pancreatitis. Fatty liver could be incorporated into future predictive scoring models.
presented symptoms. Extraintestinal manifestations of CD are 15 times more frequent than are intestinal manifestations, making diagnosis extremely challenging. 3 Herein, we report a case of CD that mimicked amyotrophic lateral sclerosis (ALS), with neurologic manifestations being the first presented symptoms. CASE REPORTA sexagenary male patient visited our neurology department with progressive motor weakness without sensory manifestations. He had no relevant medical history. When he had visited a foreign hospital for left-sided weakness 2 years earlier, no abnormalities had been found on cerebral and spinal MRI and electromyography. Doxycycline was prescribed for 1 month based on a suspected diagnosis of chronic Lyme disease, as determined by a positive serum IgG Borrelia burgdorferi test result. However, his neurologic manifestations did not improve with treatment. INTRODUCTIONCeliac disease (CD) is an immune-mediated enteropathy triggered in genetically susceptible individuals by the ingestion of gluten-containing grains. CD occurs in 0.33% to 0.77% of individuals in Western countries.1 There have been few reports of CD cases in Asia. So far, there has been only 1 report of a suspected case of CD in Korea, 2 but recently, the consumption of wheat products has increased rapidly, which may be a precipitating factor for CD. CD is a common cause of malabsorption, but a large number of individuals have atypical manifestations as their first Celiac disease (CD) is an immune-mediated enteropathy and is a rare disease in Asia, including in Korea. However, the ingestion of wheat products, which can act as a precipitating factor of CD, has increased rapidly. CD is a common cause of malabsorption, but many patients can present with various atypical manifestations as first presented symptoms, including anemia, osteopenia, infertility, and neurological symptoms. Thus, making a diagnosis is challenging. We report a case of CD that mimicked amyotrophic lateral sclerosis (ALS). The patient was a sexagenary man with a history of progressive motor weakness for 2 years. He was highly suspected as having ALS. During evaluation of his neurological symptoms, esophagogastroduodenoscopy (EGD) was performed because he had experienced loose stools and weight loss for the previous 7 months. On EGD, the duodenal mucosa appeared smooth. A biopsy revealed severe lymphoplasma cell infiltration with flattened villi. His serum endomysial antibody (immunoglobulin A) titer was 1:160 (reference, <1:40). Finally, he was diagnosed as having CD, and a gluten-free diet was immediately begun. At a 4-month follow-up, his weight and the quality of his stool had improved gradually, and the neurological manifestations had not progressed. (Intest Res 2017;15:540-542)
(2013) Therapeutic potential of autologous mesenchymal stem cells derived from synovial fluid in patients with degenerative arthritis, Animal Cells and Systems, 17:5, 315-324, DOI: 10.1080/19768354.2013.832705 To link to this article: https://doi.org/10. 1080/19768354.2013 The possibility to isolate synovial fluid-derived mesenchymal stem cells (SFMSCs) from patients with degenerative arthropathy has been an interest since synovial fluid (SF) from osteoarthritis (OA) patients offered a unique stem-cell resource for therapeutic applications. In this study, we successfully isolated, cytogenetically and molecularly characterized, and followed the differentiation potency of human mesenchymal stem cells (MSCs) from SF. The morphology of proliferating SFMSCs showed fibroblast-like morphology, and both the population doubling time (DT) and viability of MSCs from bone marrow, adipose, and SF did not differ. The immunophenotype of SFMSCs was confirmed by the positive expression of CD44, CD73, CD90, CD105, and CD106 by flow cytometry and immunocytochemistry, and the expression of the hematopoietic markers, CD34 and CD45, was not found. In all MSCs from three different origins, we measured the mRNA expression of developmentally important transcript factors such as KLF4, c-Myc, Sox2, and OCT4. SFMSCs from OA patients showed normal chromosomal number, structure, and telomerase activity. SFMSCs showed multipotent capacity, and was differentiated into neurocyte, adipocyte, osteocyte, and chondrocyte in vitro, as demonstrated by specific stains and expression of molecular markers. In addition, SFMSCs also have the capacity to secrete immunomodulating factors (IL-4, IL-10, IL-13, and transforming growth factor-b (TGF-b)) involved in the therapy of rheumatoid arthritis (RA). These results demonstrate that SFMSCs from OA-patients might provide therapeutic options for RA and OA.
Pseudohypoparathyroidism (PHP) is a genetic disorder due to target-organ unresponsiveness to parathyroid hormone (PTH). PHP type 1A (PHP1A) is an autosomal dominant disease characterized by Albright hereditary osteodystrophy (AHO) and PTH resistance caused by defects at the GNAS locus. We analyzed the GNAS gene in a male with typical AHO and elevated PTH levels. We identified a novel de novo heterozygous mutation at the splice donor site in intron-7 (IVS7+1G>A, c.585+1G>A) of the GNAS gene. No GNAS mutations were detected in his parents. Our patient was diagnosed with PHP1A due to a heterozygous de novo mutation in the GNAS gene. Reverse transcriptase (RT) PCR analysis and sequencing revealed that this de novo splice mutation generated alternative splicing errors leading to the formation of 2 mutant transcripts: one with exon-7 deleted, the other with whole intron-7 included. To investigate whether these aberrantly spliced transcripts were stable, we assessed the differential expression of GNAS mRNAs in the proband's blood by real-time quantitative RT-PCR. In the proband, the relative expression levels of wild-type, exon-7-deleted, and intron-7-included GNAS mRNAs were 0.21, 6.12E-07, and 1.08E-04, respectively, relative to wild-type GNAS mRNA from a healthy control (set at 1.0). This suggests that this novel de novo splicing mutation generates rapidly decaying mutant transcripts, which might affect stimulatory G-protein activity and give rise to this sporadic case. In conclusion, this is an interesting report of aberrantly spliced mRNAs from a de novo splice mutation of the GNAS gene causing PHP1A in a male.
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