Biomedical subjects

Fermin Mearin

Publications and source records attributed to Fermin Mearin.

8 recordsLinked to original sources

PubMed2006

Adaptation to Spanish language and validation of the fecal incontinence quality of life scale.

PURPOSE: The aim of this study was to perform a psychometric evaluation of the Fecal Incontinence Quality of Life Scale in the Spanish language. METHODS: Eleven hospitals in Spain participated in the study, which included 118 patients with active fecal incontinence. All the patients filled out a questionnaire on the severity of their incontinence, a general questionnaire of health (Medical Outcomes Survey Short Form), and a Spanish translation of the Fecal Incontinence Quality of Life Scale (Cuestionario de Calidad de Vida de Incontinencia Anal), which consists of 29 items in four domains: lifestyle, behavior, depression, and embarrassment. On a second visit, patients repeated the Fecal Incontinence Quality of Life Scale. For each domain, an evaluation was made of temporal reliability, internal reliability, the convergent validity with the generic questionnaire of health, and the discriminant validity correlating the domains of Cuestionario de Calidad de Vida de Incontinencia Anal with the severity of fecal incontinence. RESULTS: For cultural adaptation, the answer alternatives for 14 items were modified. A total of 111 patients (94 percent) completed the study adequately. Temporal reliability (test-retest) was good for all domains except for embarrassment, which showed significant differences (P < 0.02). Internal reliability was good/excellent for all domains (Cronbach alpha >0.80, between 0.84 and 0.96). The four domains of Cuestionario de Calidad de Vida de Incontinencia Anal significantly correlated with the domains of the generic questionnaire on health (P < 0.01) and with the scale of severity of fecal incontinence (P < 0.001). All domains of Cuestionario de Calidad de Vida de Incontinencia Anal correlated negatively with the need to wear pads (P < 0.01) and with the presence of complete fecal incontinence. CONCLUSIONS: The Cuestionario de Calidad de Vida de Incontinencia Anal incorporates sufficient requirements of reliability and validity to be applied to patients with fecal incontinence.

Adult↗

PubMed2006

Functional bowel disorders.

Employing a consensus approach, our working team critically considered the available evidence and multinational expert criticism, revised the Rome II diagnostic criteria for the functional bowel disorders, and updated diagnosis and treatment recommendations. Diagnosis of a functional bowel disorder (FBD) requires characteristic symptoms during the last 3 months and onset > or =6 months ago. Alarm symptoms suggest the possibility of structural disease, but do not necessarily negate a diagnosis of an FBD. Irritable bowel syndrome (IBS), functional bloating, functional constipation, and functional diarrhea are best identified by symptom-based approaches. Subtyping of IBS is controversial, and we suggest it be based on stool form, which can be aided by use of the Bristol Stool Form Scale. Diagnostic testing should be guided by the patient's age, primary symptom characteristics, and other clinical and laboratory features. Treatment of FBDs is based on an individualized evaluation, explanation, and reassurance. Alterations in diet, drug treatment aimed at predominant symptoms, and psychotherapy may be beneficial.

Constipation↗

PubMed2006

Bowel dysfunction in patients with motor complete spinal cord injury: clinical, neurological, and pathophysiological associations.

BACKGROUND: Abnormal bowel function is a key problem in patients with spinal cord injury (SCI). Previous works provided only partial information on colonic transit time (CTT) or anal dysfunction but did not identified a comprehensive neurogenic bowel pattern. AIM: To evaluate clinical, neurological, and pathophysiological counterparts of neurogenic bowel in patients with motor complete SCI. METHODS: Fifty-four patients (56% men, mean age 35 yr) with chronic motor complete SCI (mean evolution time 6 yr) were evaluated: 41% with injuries above T7 (> T7) and 59% with injuries below T7 (< T7); patients were also classified according to the presence or not of sacral spinal reflexes. Clinical assessment, total and segmental CTT quantification, anorectal function evaluation by manometry, intrarectal balloon distension, and surface electromyography were performed. RESULTS: Three different neuropathophysiological patterns were observed: Pattern A, present in > T7 injuries, characterized by very frequent constipation (86%) with significant defecatory difficulty and not very severe incontinence (Mean Wexner score 4.5); it was related to moderate delay in CTT (mainly in the left colon and recto-sigma), incapacity to increase the intra-abdominal pressure, and the absence of anal relaxation during the defecatory maneuvre; Pattern B, present in < T7 injuries with preserved sacral reflexes, characterized by not so frequent constipation (50%) but very significant defecatory difficulty and not very severe incontinence (Wexner 4.8); the pathophysiological counterpart was a moderate delay in CTT, capacity to increase intra-abdominal pressure, increased anal resistance during the defecatory maneuver, and presence of external anal sphincter (EAS) contraction when intra-abdominal pressure increased and during rectal distension; Pattern C, present in < T7 injuries without sacral reflexes, characterized by not very frequent constipation (56%) with less defecatory difficulty and greater severity of incontinence (Wexner 7.2); this was associated with severe delay in CTT (mainly in the left colon), capacity to increase intra-abdominal pressure, absence of anal resistance during the defecatory maneuver, and absence of EAS contraction when intra-abdominal pressure increased and during rectal distension. CONCLUSION: In patients with motor complete SCI, we were able to define three different neuropathophysiological patterns that are associated with bowel function abnormalities and clinical complaints; this might be of help when designing therapeutic strategies.

Adult↗

PubMed2004

A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.

A 29-year-old Spanish man presented with chronic intestinal pseudo-obstruction, progressive external ophthalmoplegia, peripheral neuropathy, and diffuse leukoencephalopathy. This combination of clinical features is characteristic of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Genetic analysis revealed a novel 18-base pair (bp) duplication (5044-5061 dup) in exon 8 of the thymidine phosphorylase (TP) gene. The mutation is predicted to produce a 6 amino acid insertion in the alpha-beta-domain of the protein. This 18-bp insertion in the thymidine phosphorylase gene is the first duplication mutation identified in MNGIE.

5'-Nucleotidase↗

PubMed2004

Clinical patterns over time in irritable bowel syndrome: symptom instability and severity variability.

OBJECTIVES: The clinical course of irritable bowel syndrome (IBS) remains poorly known. In 209 IBS patients meeting Rome II criteria (137 females and 72 males) we evaluated: (1). changes in frequency and intensity of abdominal pain/discomfort, abnormal number of bowel movements, loose or watery stools, defecatory urgency, hard or lumpy stools, straining during bowel movements, and feeling of incomplete evacuation); (2). use of resources, HRQoL, and psychological well being. METHODS: Observational, prospective, multicenter study. Symptoms were registered in a diary over two 28-day periods with an interval of 4 wk; direct resource use and indirect costs were noted weekly. Three HRQoL questionnaires were administered. RESULTS: High-intensity symptoms were present on more than 50% of the days. Sixty-one percent were classified in the same IBS subtype on both occasions (kappa= 0.48), while 49% had the same symptom predominance and intensity (kappa= 0.40). The greatest instability was observed among diarrhea (D-IBS) and constipation (C-IBS) subtypes: only 46% and 51% remained in the same pattern with a tendency to shift to alternating diarrhea/constipation subtype (A-IBS); however, practically no patient changed from D-IBS to C-IBS, or vice versa. The most reliable symptom characteristic was frequency, followed by intensity and number of episodes. Symptom frequency and intensity were directly related to resource use and HRQoL impairment. CONCLUSIONS: IBS symptoms are instable over time and variables in intensity. Many patients with D-IBS or C-IBS move to A-IBS; however, shift from D-IBS to C-IBS, or vice versa, is very infrequent.

Abdominal Pain↗

PubMed2004

Splitting irritable bowel syndrome: from original Rome to Rome II criteria.

OBJECTIVES: Diagnosis of irritable bowel syndrome (IBS) and other functional bowel disorders (FBD) is based on symptom evaluation. Clinical criteria have changed over time, yielding different proportions of subjects fulfilling diagnostic requirements. According to new diagnostic criteria (Rome II), subjects considered some years ago to have IBS no longer do so. The aim of this article is to evaluate how patients diagnosed as having IBS according to original Rome criteria have been split, and to which clinical diagnosis they belong today. METHODS: Two hundred and eleven subjects meeting original Rome IBS diagnostic criteria were studied: 65 also met Rome II criteria while 146 did not. Subjects were extracted from an epidemiological survey, using home-based personal interviews, on 2000 subjects randomly selected as representative of the Spanish population. Clinical complaints, personal well-being, resource utilization, and health-related quality of life (HRQOL) were compared. RESULTS: Of the subjects meeting original Rome but not Rome II criteria, the present diagnosis should be: 40%"minor" IBS (IBS symptoms of less than 12 wk duration), 37% functional constipation, 12% alternating bowel habit, 7% functional diarrhea, 3% functional abdominal bloating, and 1% unspecified functional bowel disorder (FBD). Thus, 52 subjects (36%) should not be diagnosed with IBS because they really had other FBD, 59 (40%) because of symptoms consistent with IBD diagnosis but not the required duration or frequency, and 35 (24%) because of symptoms consistent with some other FBD diagnosis but not meeting the required duration. Clinical complaints, personal well-being, resource utilization, and HRQOL were more severely affected in IBS than in other FBD as a group, and in "major" rather than in "minor" forms. CONCLUSIONS: Many subjects meeting original Rome criteria for IBS do not meet Rome II criteria: approximately one quarter of subjects do not have sufficient symptom duration or frequency to be diagnosed with IBS and almost half are now considered as having other ("major" or "minor") FBD.

Adolescent↗

PubMed2002

The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.

We report an unusual case of encephalo-entero-myopathy associated with the A8344G mutation in the tRNA(Lys) gene of mitochondrial DNA (mtDNA). This patient had mitochondrial myopathy, multiple lipomatosis, mild hearing loss, stroke-like episodes, and paralytic ileus, but she lacked the canonical clinical features of MERRF, myoclonus, epilepsy, or ataxia. We conducted genetic, biochemical, histochemical, and immunohistochemical studies in skeletal muscle, brain, intestine, and lipoma tissue. The mutation was abundant in all tissues, and cytochrome c oxidase (COX) activity was selectively decreased in brain and small intestine. COX deficiency was also documented histochemically and immunohistochemically in the small intestine, suggesting that mitochondrial dysfunction played a role in the pathogenesis of paralytic ileus. This case illustrates an unusual and dramatic clinical phenotype of the A8344G mutation, characterized by stroke-like episodes and acute ileus.

Adult↗

PubMed2002

Burden of illness in irritable bowel syndrome comparing Rome I and Rome II criteria.

OBJECTIVES: To evaluate the burden of illness in irritable bowel syndrome (IBS), in terms of resource utilisation (direct and indirect) and health-related quality of life (HR-QOL), in individuals with IBS who meet Rome I and Rome II criteria. METHODS: A cross-sectional study, carried out by personal interview, on a representative sample (n = 2000) of the Spanish population. Individuals with suspected IBS were identified via a screening question and subsequently given an epidemiological questionnaire to complete. The questionnaire collected information on IBS symptoms, resource utilisation, and HR-QOL [Medical Outcomes Study 36-item Short Form (SF-36)]. RESULTS: Sixty-five individuals met Rome II criteria for IBS, while 146 individuals met exclusively Rome I criteria. Of Rome II individuals, 67.7% had consulted some type of healthcare professional in the previous 12 months, compared with only 41.8% of those individuals meeting exclusively Rome I criteria (p vs 17.1%); 'drug consumption' (70.8 vs 45.2%); and 'reduced performance in main activity' (60 vs 27.4%). Compared with the general population, the study sample reported significantly worse HR-QOL scores in four dimensions of the SF-36 ('bodily pain', 'vitality', 'social functioning' and 'role-emotional'. Additionally, individuals meeting Rome II criteria reported worse HR-QOL scores than those individuals meeting exclusively Rome I criteria, especially in the 'bodily pain' and 'general health' dimensions. CONCLUSIONS: The burden of illness in IBS is important and correlated to the diagnostic criteria employed. Individuals who met Rome II criteria reported a higher level of resource utilisation and worse HR-QOL than individuals meeting exclusively Rome I criteria.

Adolescent↗