Interaction between a novel intronic IVS3+172 variant and N29I mutation in PRSS1 gene is associated with pancreatitis in a Malaysian Chinese family.

BACKGROUND/AIMS: Hereditary pancreatitis (HP) is a very rare form of early-onset chronic pancreatitis, which usually begins in childhood with a variable spectrum of severity of disease. HP is commonly caused by variants/mutations in the PRSS1 gene as reported in many studies. Therefore, in this study, we aimed to investigate the possible association of PRSS1 gene variants/mutations in a Malaysian Chinese family with HP. METHODS: Genomic DNA of the 6 family members was extracted, amplified using polymerase chain reaction and the entire PRSS1 gene was analyzed via sequencing. RESULTS: PRSS1 gene sequencing results revealed two variants/mutations in this study. The results show that all the subjects (patients) inherited an intronic SNP IVS3+172 variant, together with a p.N29I mutation except for subjects 3 and 4 who are normal. CONCLUSION: We believe that interaction between the novel IVS3+172 intronic variant and p.N29I mutation in the PRSS1 gene is associated with HP in this Malaysian Chinese family.

Non-cardiac chest pain: prevalence of reflux disease and response to acid suppression in an Asian population.

BACKGROUND: Gastroesophageal reflux disease is thought to be the commonest cause of 'non-cardiac chest pain'. The use of proton-pump inhibitors resulting in improvement in the chest pain symptom would support this causal association. OBJECTIVES: To determine the prevalence of gastroesophageal reflux disease in non-cardiac chest pain and the response of chest pain to proton-pump inhibitor therapy. METHODS: Patients with recurrent angina-like chest pain and normal coronary angiogram were recruited. The frequency and severity of chest pain were recorded. All patients underwent esophagogastroduodenoscopy and 48-h Bravo ambulatory pH monitoring before receiving rabeprazole 20 mg bd for 2 weeks. RESULTS: The prevalence of gastroesophageal reflux disease was 66.7% (18/27). The improvement in chest pain score was significantly higher in reflux compared to non-reflux patients (P = 0.006). The proportion of patients with complete or marked/moderate improvement in chest pain symptoms were significantly higher in patients with reflux (15/18, 83.3%) compared to those without (1/9, 11.1%) (P < 0.001). CONCLUSION: The prevalence of gastroesophageal reflux disease in patients with 'non-cardiac chest pain' was high. The response to treatment with proton-pump inhibitors in patients with reflux disease, but not in those without, underlined the critical role of acid reflux in a subset of patients with 'non-cardiac chest pain'.

Transnasal endoscopic placement of nasoenteric feeding tubes: outcomes and limitations in non-critically ill patients.

Transnasal endoscopic placement of nasoenteric tubes (NETs) has been demonstrated to be useful in the critical care setting, with limited data on its role in non-critically ill patients. The authors collected data on consecutive patients from a non-critical care setting undergoing transnasal endoscopic NET placement. All NETs were endoscopically placed using a standard over-the-guidewire technique, and positions were confirmed with fluoroscopy. Patients were monitored until the removal of NETs or death. Twenty-two patients (median age = 62.5 years, 36.4% female) were referred for postpyloric feeding, with main indications of persistent gastrocutaneous fistula (n = 6), gastroparesis or gastric outlet obstruction (n = 5), duodenal stenosis (n = 6), acute pancreatitis (n = 4), and gastroesophageal reflux after surgery (n = 1). Postpyloric placement of NET was achieved in 19 of 22 (86.3%) patients, with 36.8% tube positions in the jejunum, 47.4% in the distal duodenum, and 15.8% in the second part of the duodenum. NET placement was least successful in cases with duodenal stenosis. NETs remained in situ for a median of 24 days (range, 2-94), with tube dislodgement (n = 3) and clogging (n = 5) as the main complications. NET feeding resulted in complete healing of gastrocutaneous fistulae in 5 of 6 patients and provision of total enteral nutrition in 3 of 4 cases of acute pancreatitis and 9 of 11 cases of gastroparesis or proximal duodenal obstruction. Transnasal endoscopy has a role in the placement of NET in non-critically ill patients requiring postpyloric feeding. However, there are some limitations, particularly in cases with altered duodenal anatomy.

The role of proton-pump inhibitor therapy in patients with gastroesophageal reflux disease and difficult-to-control asthma.

Difficult-to-control asthma is a frustratingly difficult condition to treat. Many factors contribute to this condition, including gastroesophageal reflux disease. Response to potent acid suppressive therapy with proton-pump inhibitors is less than universal or complete, and underlines the multifactorial nature of the disease. However, the authors of this paper feel strongly that, whereas gastroesophageal reflux disease can be reliably identified, patients with difficult-to-control asthma will experience an improvement in symptoms when treated with acid-suppressive therapy, while bearing in mind that other contributory factors may have to be eliminated at the same time.

Gastroesophageal Reflux Disease: An Emerging Disease in Asia.

Gastroesophageal reflux disease (GERD) has been reported to be uncommon among Asians. Although prevalence rates of reflux esophagitis and symptoms of GERD in Asian patients vary, most of the recently published studies have shown an increasing trend, likely due to better awareness and diagnosis as well as to a true increase in the prevalence of the disease. The exact reasons for this increase in prevalence are unclear but must be linked in some way to the dramatic socioeconomic development taking place in the region. Changes in dietary patterns and body mass index have been suggested as underlying reasons. On the other hand the high prevalence of Helicobacter pylori infection in Asia and its association with decreased acid secretion and a low prevalence of GERD have also been noted. Another interesting observation is differing rates of GERD among different Asian ethnic groups, indicating a possible genetic susceptibility to GERD. Diagnosis of GERD is usually based on symptoms; many Asian patients, however, do not understand the term "heartburn," as there is no equivalent term in the major Asian languages. Patients therefore describe their symptoms variously, such as chest discomfort or wind and soreness in the chest. Nonerosive reflux disease appears to be common among Asians. Atypical manifestations of GERD, including noncardiac chest pain, asthma, and laryngitis, appear to be common among Asian patients as well.