Gastrointestinal manifestations in myotonic muscular dystrophy

Myotonic dystrophy (MD) is characterized by myotonic phenomena and progressive muscular weakness. Involvement of the gastrointestinal tract is frequent and may occur at any level. The clinical manifestations have previously been attributed to motility disorders caused by smooth muscle damage, but histologic evidence of alterations has been scarce and conflicting. A neural factor has also been hypothesized. In the upper digestive tract, dysphagia, heartburn, regurgitation and dyspepsia are the most common complaints, while in the lower tract, abdominal pain, bloating and changes in bowel habits are often reported. Digestive symptoms may be the first sign of dystrophic disease and may precede the musculo-skeletal features. The impairment of gastrointestinal function may be sometimes so gradual that the patients adapt to it with little awareness of symptoms. In such cases routine endoscopic and ultrasonographic evaluations are not sufficient and targeted techniques (electrogastrography, manometry, electromyography, functional ultrasonography, scintigraphy, etc.) are needed. There is a low correlation between the degree of skeletal muscle involvement and the presence and severity of gastrointestinal disturbances whereas a positive correlation with the duration of the skeletal muscle disease has been reported. The drugs recommended for treating the gastrointestinal complaints such as prokinetic, anti-dyspeptic drugs and laxatives, are mainly aimed at correcting the motility disorders. Gastrointestinal involvement in MD remains a complex and intriguing condition since many important problems are still unsolved. Further studies concentrating on genetic aspects, early diagnostic techniques and the development of new therapeutic strategies are needed to improve our management of the gastrointestinal manifestations of MD

Intestinal pseudo-obstruction in inactive systemic lupus erythematosus: An unusual finding

Abstract Chronic intestinal pseudo-obstruction (CIP) is an infrequent complication of an active systemic lupus erythematosus (SLE). We illustrate a case of SLE inactive-related CIP. A 51-year old female with inactive SLE (ECLAM score 2) was hospitalized with postprandial fullness, vomiting, abdominal bloating and abdominal pain. She had had no bowel movements for five days. Plain abdominal X-ray revealed multiple fluid levels and dilated small and large bowel loops with air-fluid levels. Intestinal contrast radiology detected dilated loops. CIP was diagnosed. The patient was treated with prokinetics, octreotide, claritromycin, rifaximin, azathioprine and tegaserod without any clinical improvement. Then methylprednisolone (500 mg iv daily) was started. After the first administration, the patient showed peristaltic movements. A bowel movement was reported after the second administration. A plain abdominal X-ray revealed no air-fluid levels. Steroid therapy was slowly reduced with complete resolution of the symptoms. The patient is still in a good clinical condition. SLE-related CIP is generally reported as a complication of an active disease. In our case, CIP was the only clinical demonstration of the SL

Low fermentable oligo-di-and mono-saccharides and polyols (Fodmaps) or gluten free diet: What is best for irritable bowel syndrome?

Irritable Bowel Syndrome (IBS) is a very common functional gastrointestinal disease. Its pathogenesis is multifactorial and not yet clearly defined, and hence, its therapy mainly relies on symptomatic treatments. Changes in lifestyle and dietary behavior are usually the first step, but unfortunately, there is little high-quality scientific evidence regarding a dietary approach. This is due to the difficulty in setting up randomized double-blind controlled trials which objectively evaluate efficacy without the risk of a placebo effect. However, a Low Fermentable Oligo-, Di-and Mono-saccharides And Polyols (FODMAP) Diet (LFD) and Gluten Free Diet (GFD) are among the most frequently suggested diets. This paper aims to evaluate their possible role in IBS management. A GFD is less restrictive and easier to implement in everyday life and can be suggested for patients who clearly recognize gluten as a trigger of their symptoms. An LFD, being more restrictive and less easy to learn and to follow, needs the close supervision of a skilled nutritionist and should be reserved for patients who recognize that the trigger of their symptoms is not, or not only, gluten. Even if the evidence is of very low-quality for both diets, the LFD is the most effective among the dietary interventions suggested for treating IBS, and it is included in the most updated guidelines

Is gluten the only culprit for non-celiac gluten/wheat sensitivity?

The gluten-free diet (GFD) has gained increasing popularity in recent years, supported by marketing campaigns, media messages and social networks. Nevertheless, real knowledge of gluten and GF-related implications for health is still poor among the general population. The GFD has also been suggested for non-celiac gluten/wheat sensitivity (NCG/WS), a clinical entity characterized by intestinal and extraintestinal symptoms induced by gluten ingestion in the absence of celiac disease (CD) or wheat allergy (WA). NCG/WS should be regarded as an “umbrella term” including a variety of different conditions where gluten is likely not the only factor responsible for triggering symptoms. Other compounds aside from gluten may be involved in the pathogenesis of NCG/WS. These include fructans, which are part of fermentable oligosaccharides, disaccharides, monosaccharides and polyols (FODMAPs), amylase trypsin inhibitors (ATIs), wheat germ agglutinin (WGA) and glyphosate. The GFD might be an appropriate dietary approach for patients with self-reported gluten/wheat-dependent symptoms. A low-FODMAP diet (LFD) should be the first dietary option for patients referring symptoms more related to FODMAPs than gluten/wheat and the second-line treatment for those with self-reported gluten/wheat-related symptoms not responding to the GFD. A personalized approach, regular follow-up and the help of a skilled dietician are mandatory

Influence of the serotonin transporter 5HTTLPR polymorphism on symptom severity in irritable bowel syndrome

5HTTLPR polymorphism of serotonin transporter yields short (S) and long (L) alleles. SS and LS genotypes are associated with reduced expression of serotonin transporter. This cross-sectional study investigated the association of 5HTTLPR with symptom severity of irritable bowel syndrome (IBS). Patients with IBS (Rome III) and healthy controls were included. Genomic DNA was extracted from saliva, and 5HTTLPR alleles were assessed by polymerase chain reaction. IBS symptom severity was evaluated by means of IBS-SSS questionnaire. Two hundreds and four IBS patients (159 females; mean age: 39.6±12.3 years; 106 with constipation: C-IBS; 98 with diarrhea: D-IBS) and 200 healthy controls (154 females; mean age: 40.4±15.8 years) were enrolled. The overall IBS-SSS value was higher in LS/SS than LL patients (319.0±71.5 versus 283.8±62.3; P = 0.0006). LS/SS patients had also higher values of abdominal pain (59.7±21.0 versus 51.0±18.8; P = 0.020) and bowel dissatisfaction (80.1±23.9 versus 70.5±22.8; P = 0.035). The overall IBS-SSS values in C-IBS and D-IBS patients were 317.2±68.3 and 296.1±71.4, respectively (P = 0.192), with significantly higher values for abdominal distension (65.0±24.4 versus 51.4±24.8; P = 0.0006), but not for bowel dissatisfaction (80.5±21.7 versus 72.9±25.7; P = 0.138). Frequencies of 5HTTLPR genotypes did not differ significantly when comparing IBS patients (overall or upon stratification in C-IBS and D-IBS) with healthy controls. In conclusion, the LS and SS genotypes are significantly correlated with IBS symptom severity, although their possible direct causal role remains to be proven. In addition, the present findings do not support an association of 5HTTLPR with IBS or its clinical presentation in terms of bowel habit predominance

Self-perceived normality in defecation habits

Background: Available information on normal bowel habits was mainly gathered by means of telephone interviews or mailed questionnaires. Aims: We undertook a prospective study to evaluate the defecatory habits in subjects perceiving themselves as normal concerning this function. Subjects and Methods: A questionnaire (4-week diary with "yes-no" daily answers to six questions concerning bowel habits) was distributed to 204 subjects perceiving their defecation behaviour as normal. Results: The completed questionnaire was returned by 140 subjects. No significant differences were found between sexes or age groups for any variable, even though straining at stool and feeling of incomplete and/or difficult evacuation showed a trend to increase with age. No subject had less than three bowel movements per week or more than three per day. The percentage of symptoms linked to an abnormal defecatory behaviour was well below 10%. Fifty-five percent of subjects reported at least one parameter of abnormal functioning; the most frequent was straining at stool and the rarer was the manual manoeuvres to help defecation. Conclusions: In normal subjects the prevalence of symptoms considered in Rome II criteria as part of an abnormal defecatory behaviour (in more than 25% of defecations) is well below 10%, manual manoeuvres are almost never used to help defecation, and the frequency of defecations is at least three per week. © 2005 Editrice Gastroenterologica Italiana S.r.l

An Innovative Monocular Mobile Object Self-localization Approach Based on Ceiling Vision

This study deals with the estimation of the position of a mobile object using ceiling landmarks images acquired by a low resolution camera placed on a mobile object. The mobile object is moving in an indoor environment where light is given by electric lamps with circular holders. The images of the circular holders are projected on the image plane of the camera and are processed by means of computer vision algorithms. The pixels of the images of the light holders on the ceiling are mapped to the pixels of the images of the light holders on the image plane of the camera by means of a two dimensional dynamic programming algorithm (2D-DPA). The projection distortions are thus compensated and this reduces the estimation errors. The algorithm described in this paper estimates the distance from the camera lens to the center of the landmarks using only ceiling vision. Localization can be easily obtain from such distance estimations. The projections are geometrically described and the distance estimation is based on the pixels mapping information obtained by 2D-DPA

A numerically stable fast RLS algorithm for adaptive filtering and prediction based on the UD factorization

The use of UD factorization in adaptive RLS algorithms is interesting for its numeric robustness and because no square-root operations at all are involved. In this correspondence, we describe a square root free fast RLS algorithm based on the UD factorization of the autocorrelation matrix. Numerous finite precision simulations tend to indicate that this algorithm is numerically stable. The algorithm requires O(N) operations, where N is the linear filter order

On the stability of discrete time recursive Volterra filters

Many real nonlinear systems are characterized by an infinite input signal memory. In such conditions, system modeling by means of recursive polynomial filters requires a much lower number of coefficients with respect to nonrecursive realizations. However, the main problem of recursive polynomial filters is their inherent instability. This letter describes simple sufficient stability conditions for a class of discrete-time nonlinear systems based on recursive Volterra filters of arbitrary orders

Event detection in complex environments: An effective and efficient machine-learning-based framework

In this paper we describe a falls detection and classification algorithm for discriminating falls from daily life activities using a MEMS accelerometer. The algorithm is based on a shallow Neural Network with three hidden layers, used as fall/non fally classifier, trained with daily life activities features and fall features. The novelty of this algorithm is that synthetic falls are generated as multivariate random Gaussian features, so only real daily life features must be collected during some day of normal living. Moreover, the features related to synthetic fall events are generated as complement of normal features. First of all, the features acquired during daily life are clustered by Principal Component Analysis and no Fall activities shall be recorded. The complement set of the normal features is found and used as a mask for Monte Carlo generation of synthetic fall. The two feature sets, namely the features recorded from daily life activities and those artificially generated are used to train the Neural Network. This approach is suitable for a practical utilization of a Neural Network based fall detection characterized by high Recall-Precision rate