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PubMed2005

[Psychiatric and neuropsychological signs and symptoms in patients with fabry disease: literature review].

Fabry Disease (FD) is an X-linked lysosomal storage disorder (prevalence about 1 : 100 000) caused by a genetic defect associated with a lack of alpha-galactosidase A (alpha-GAL) enzyme activity. As a consequence, neutral glycosphingolipides can not be cleaved and metabolized, and accumulate in lysosomes of several tissues, particularly in vascular endothelium and smooth muscle cells. The most prominent symptoms comprise pain attacks and acroparesthesia, angiokeratoma, corneal opacity, renal and cardiac dysfunction, hypo- and anhidrosis, gastrointestinal symptoms, and cerebrovascular dysfunction with vertigo, headache, and cerebral ischemia. Characteristic symptoms of FD can occur in male and female patients with the same prevalence, while females with FD seem to be less severely affected. The course of untreated illness is progressive with considerable interindividual variability. Since 2001 two enzyme replacement therapies are approved which can possibly stop the disease progress and alleviate symptoms. The very few reports and clinical observations have shown that a very high proportion of FD patients develop neuropsychiatric symptoms. However, accurate data are lacking. Although the pathophysiologic mechanisms are quite unknown, it is surmised that sphingolipid deposits in the endothelium of small cerebral vessels lead to regional cerebral ischemia accompanied by neuropsychiatric symptoms and deficits. Furthermore, patients with FD are chronically distressed by pain attacks and additional somatic and psychological impairment. Frequently, pain attacks are triggered by psychosocial stress. The high interindividual variability can, thus, also be interpreted on the basis of existing stress and coping models. The present paper will review the presently available psychiatric and neuropsychological findings in FD and will discuss difficulties associated with classification and differential diagnosis of psychiatric disorders occurring in patients with FD.

Fabry Disease↗
PubMed2025

Efficacy of esketamine in reducing nausea and vomiting after anesthesia: a systematic review and meta-analysis of randomized controlled trials.

BACKGROUND: Postoperative nausea and vomiting (PONV) are significant perioperative challenges. This study evaluated the efficacy of perioperative esketamine in preventing PONV. MATERIALS AND METHODS: We systematically searched Embase, PubMed, Web of Science, and the Cochrane Library from inception to August 2025 for randomized controlled trials investigating the effect of perioperative esketamine on PONV. The primary outcome was PONV incidence. Secondary outcomes included time to first flatus, postoperative pain degree, anxiety scores, agitation, anesthesia recovery time, and post-anesthesia care unit (PACU) stay duration. Data were analyzed using RevMan 5.4 and STATA 15.0 software. Sensitivity and subgroup analyses were performed to assess result stability and explore potential sources of heterogeneity. RESULTS: Thirty-eight randomized trials (3,425 patients) were included. Esketamine reduced the risk of nausea (RR=0.69, 95% CI: 0.53-0.90) and vomiting (RR=0.75, 95% CI: 0.57-0.98), shortened time to first flatus (SMD=-0.81, 95% CI: -1.48 to -0.15), and decreased rescue analgesic needs within 2 days (SMD=0.32, 95% CI: 0.2-0.5). However, it prolonged anesthesia recovery time (SMD=0.97, 95% CI: 0.28-1.67) and PACU stay (SMD=0.76, 95% CI: 0.27-1.26). CONCLUSIONS: Perioperative esketamine may reduce PONV and aid gastrointestinal recovery, but its potential to delay anesthesia recovery and PACU discharge requires consideration. Further studies are needed to clarify its risk-benefit profile. DATE OF FIRST SUBMISSION TO PROSPERO: 10 March 2024. DATE OF THE START OF STUDY SCREENING AGAINST ELIGIBILITY CRITERIA: 21 March 2024.

Humans↗
PubMed1995

Rectal administration of iodide and propylthiouracil in the treatment of thyroid storm.

We administered potassium iodide and propylthiouracil per rectum, in conjunction with intravenous dexamethasone and propranolol, for emergent treatment of a patient in thyroid storm with small bowel obstruction. Shortly after initiation of this treatment, the patient successfully underwent two emergent surgical procedures for resection of an intestinal volvulus with advanced peritonitis. Serum levels of iodide and propylthiouracil showed substantial absorption of these drugs via the rectal route. Measurement of 24-h urinary-free iodide indicated that the bioavailability of potassium iodide delivered by retention enema was at least 40%. Parenteral iodide preparations have been unavailable in the past, and continue to be difficult to obtain emergently. Rectal administration of inorganic iodide is an effective, readily available and less expensive alternative to parenteral sodium iodide for patients in thyroid storm with upper gastrointestinal tract dysfunction.

Administration, Rectal↗
PubMed2003

The impact of B(12) treatment on gastric emptying time in patients with Helicobacter pylori infection.

GOALS: The role that vitamin B12 deficiency plays in upper gastrointestinal motor dysfunction is not clear. The aim of this study was to determine whether B12 replacement therapy improves prolonged gastric emptying time in dyspeptic patients with Helicobacter pylori infection. MATERIALS AND METHODS: The study included 34 H. pylori-positive patients who had low serum levels of B12 but had no other factors associated with altered gastric motility. Each patient underwent a radionuclide gastric emptying study before and after 3 months of B12 replacement therapy. Dyspepsia scores were calculated pretherapy and posttherapy using a semiquantitative scale. A vitamin B12 preparation (1000 microg/d) was given intramuscularly for the first 10 days and then orally for 80 days. H. pylori eradication therapy was delayed for 3 months until the posttreatment radionuclide study was completed. RESULTS: The mean gastric emptying time before B12 treatment was significantly longer than that after treatment (230 +/- 190 minutes vs. 98 +/- 29 minutes, respectively; P < 0.0001). The mean dyspepsia score was also significantly improved by treatment (5.4 +/- 1.0 vs. 1.2 +/- 1.0, respectively; P < 0.0001). CONCLUSION: Vitamin B12 deficiency appears to play an important role in the development of gastric dysmotility and its clinical consequences. Replacement therapy will improve gastric emptying in some patients with dyspepsia.

Adult↗
PubMed2000

Septic mucosal intraepithelial lymphoid immune suppression: role for nitric oxide not interleukin-10 or transforming growth factor-beta.

OBJECTIVE: Recent studies indicate that sepsis induces a marked depression in the splenocyte immune response (as illustrated by decreased interleukin [IL]-2 production, interferon [IFN]-gamma production, or both) in response to T-cell mitogen. However, it is not known whether a similar depression is evident in the phenotypically distinct, small intestine intraepithelial lymphocytes (IELs) or what regulates this process during sepsis. Because the maintenance of a competent mucosal immune response is thought to be central to the animal's ability to survive sepsis, we attempted to determine whether IEL's IL-2/IFN-gamma production is suppressed and what mediates this depression. RESULTS: Our studies indicated that C3H/HeN mice subjected to cecal ligation and puncture (CLP) exhibited a marked decline in the ability of IELs to release IL-2/IFN-gamma at 24 hours and that this decline is associated with increased secretion of IL-10 and nitric oxide (NO). To the extent that IL-10 accounted for this loss of IL-2/IFN-gamma release, we observed that IL-10 gene deficiency neither restored the IL-2/IFN-gamma release nor suppressed the increase in NO when compared with background control, C57BL/6J mouse cells. To further study whether NO was involved in this immune suppression, iNOS knockout (iNOS -/-) were also subjected to the same procedure; however, the depression in IL-2/IFN-gamma was not seen in iNOS -/- mice when compared with background controls. CONCLUSION: Our data indicate that IL-10, which affects splenic lymphoid response, may not be a key mediator of IEL immune suppression and that the induction of NO may play a more significant role in gastrointestinal immune dysfunction seen in late sepsis.

Animals↗
PubMedDate not supplied

Metabolic complications associated with parenteral nutrition.

Parenteral nutrition is an accepted medical therapy for individuals with gastrointestinal tract dysfunction. It also uses one of the most complex intravenous solutions, which contains all the nutrients needed for a patient's nutritional requirements. Metabolic complications may result from intolerance of glucose, overfeeding, electrolyte shifts, and fluid imbalances. This article describes how to anticipate, identify, and treat such complications so they do not become life threatening.

Humans↗
PubMed2005

Candidaemia in an Irish tertiary referral hospital: epidemiology and prognostic factors.

There were two parts to this study. Part 1 evaluated the epidemiology of Candida bloodstream isolates within the Southern Health Board (SHB) of Ireland from 1992 to 2003 by retrospective surveillance of all such isolates of patients reported from SHB hospitals to our laboratory database during that period. Part 2 reviewed candidaemia cases occurring in Cork University Hospital (CUH) from 1999 to 2003 using surveillance of all positive blood culture isolates in CUH microbiology laboratory during the 5-year period. In part 1, 250 Candida bloodstream isolates were reported in the SHB over 12 years. There was a pattern of decreasing percentage of C. albicans with time. Whereas in part 2, 63 cases of candidaemia were identified in CUH from 1999 to 2003. Candida albicans constituted 50% of all isolates, while C. parapsilosis and C. glabrata accounted for 21.2% and 18.2% respectively. Average annual incidence rate was 0.48 episodes/1000 admissions and 0.70 episodes/10 000 patient-days. Vascular catheters were the commonest source of candidaemia (61.9%) followed by the urinary tract (12.7%). Risk factors included exposure to multiple antibiotics (75%); central vascular catheterization (73%); multiple colonization sites (71%); severe gastrointestinal (GI) dysfunction (54%) and acute renal failure (43%). Crude 7-day and 30-day mortality rates were 20.6% and 39.7% respectively. Logistic regression multivariate analysis identified the following to be independent predictors for mortality: age > or =65 years [odds ratio (OR) 7.2, P = 0.013]; severe GI dysfunction (OR 10.6, P = 0.01); acute renal failure (OR 7.6, P = 0.022); recent/concurrent bacteraemia (OR 5.2, P = 0.042); endotracheal intubation (OR 7.7, P = 0.014); while major surgery was associated with a better prognosis (OR 0.05, P = 0.002). Appropriate antifungal treatment was also found to be associated with survival (Fisher's exact test, P < 0.001). The epidemiology of Candida bloodstream isolates within our health board had changed over the years. Incidence and mortality of candidaemia were relatively high in our hospital. Dysfunction of major organ systems and recent bacteraemia were found to predict mortality.

Adolescent↗
PubMedDate not supplied

Occipital lobe seizures related to clinically asymptomatic celiac disease in adulthood.

We report the electroclinical ictal findings of four epileptic patients with clinically asymptomatic celiac disease (CD). Celiac disease diagnosis was suspected by past history and/or computed tomography (CT) findings in all patients and confirmed by laboratory tests and jejunal biopsy. All patients had paroxysmal visual manifestations and ictal EEG discharges arising from the occipital lobe. Epilepsy evolution was favorable in two patients and severe in 2, regardless of CT evidence of occipital corticosubcortical calcifications in 2 patients. Occipital lobe seizures may be characteristic of the epilepsy related to CD, and epileptic patients with these seizures of unknown etiology should be carefully investigated for malabsorption. If past history and/or laboratory tests suggest gastrointestinal (GI) dysfunction they should also undergo small intestinal biopsy even if they do not have GI tract symptoms.

Adolescent↗
PubMed1983

Psychologic assessment technology for geriatric practice.

Psychologic assessment is an integral aspect of the comprehensive functional assessment of geriatric patients. Medical areas in which psychologic testing and evaluation can be of significant service in the diagnosis and formulation of treatment plans include psychiatric and neurologic disturbances, psychosomatic disorders, circulatory diseases (especially hypertension), diabetes, chronic pain, sexual dysfunctions, and gastrointestinal problems. In the effort to gain an understanding of the total patient, it is important to clarify the effect of physical condition on a person's psychologic reactions as well as the impact of psychologic states on his/her biologic status. This orientation is particularly important in dealing with elderly patients because the interaction between the physical and the psychologic in this age group is exceedingly strong and significant. Despite the fact that research in the psychology of the aged is of long standing, the attention given by clinical psychologists to the provision of services to geriatric patients has been quite limited until recently. Many psychologic tests have been developed during the past 70 years, but relatively few of them have been standardized for use with the aged. Of late, however, this has been changing. Several tests have been adapted, and some new ones have been organized with the needs and characteristics of the aged in mind. Closer attention has been paid to psychometric principles in the development of the tests, leading to the organization of useful norms and the demonstration of proper levels of reliability and validity. Accordingly, the state of the art of psychologic assessment of the aged is currently rather limited, but the outlook for the near future appears encouraging. In evaluating the condition of a geriatric patient, the clinical psychologist normally generates data through observations, testing, and interviewing. The resulting report covers the following areas: 1) adaptation to the examination and behavioral characteristics during the procedure, 2) cognitive functioning, 3) visual motor coordination and perception of spatial relationships, and 4) personality characteristics and mental health status. Data for the first area are normally derived by the examiner from observations and subjective impressions of the patient's behavior. For each of the other areas the information is obtained through standardized tests. In this discussion, some of the principal assessments that are currently available are reviewed and evaluated for their usefulness with the aged.

Aged↗
PubMed2004

Neurodegeneration: a key factor in the ageing gut.

Many individuals experience gastrointestinal (GI) dysfunction more frequently as they age, and the segment of the human population that is growing the most rapidly is the 'oldest old', who are >/= 80 years old. There has recently been renewed interest in the age-related changes intrinsic to the gut, and these investigations may help physicians understand the 'normal' aged GI tract, as distinct from disordered bowel function that is the result of comorbid conditions and/or GI side effects of medications used to treat those conditions. In this concise review we summarize recent data that suggest age-related neurodegenerative changes in the enteric nervous system (ENS) are key to functional changes observed with advanced age. Morphological studies are reviewed that demonstrate clearly the loss of enteric neurones in both submucosal and myenteric plexuses in humans and in rodents. Recent studies that indicate selective preservation of nitrergic, but not cholinergic, neurones are reviewed, as are preliminary findings that intrinsic sensory neurones may be among the most 'age-labile' subpopulations of the ENS. Caloric restriction remains the only intervention known that prevents neurodegeneration of ageing in the ENS, and mechanisms involved in this phenomenon are discussed. The field of ageing research in enteric neurobiology is ripe for rapid progression from phenomenology of age-related losses of neurones and associated functional changes to discovery of therapeutic approaches that may help ameliorate deterioration of bowel function and thereby contribute significantly to improved quality of life in advanced age.

Aged↗
PubMed1999

The association of Clostridium botulinum type C with equine grass sickness: a toxicoinfection?

The cause of grass sickness, an equine dysautonomia, is unknown. The disease usually results in death. Gastrointestinal (GI) dysfunction is a common clinical manifestation in all forms of the disease. It is generally thought that equine grass sickness (EGS) is caused by an ingested or enterically produced neurotoxin which is absorbed through the GI tract. Clostridium botulinum was first implicated as a causative agent when it was isolated from the GI tract of a horse with EGS in 1919. The aim of the present study was to investigate the hypothesis that EGS results from toxicoinfection with C. botulinum type C: growth of the bacterium in the GI tract with production of toxin (BoNT/C). Ileum contents and faeces from horses with EGS were investigated for BoNT/C, and indirectly for the presence of C. botulinum type C, and compared with control samples from horses without EGS. BoNT/C was detected directly by ELISA in the ileum of 45% (13/29) of horses with EGS compared to 4% (1/28) of controls, and in the faeces of 44% (20/45) of horses with EGS compared to 4% (3/77) of controls. Levels of up to 10 Mlg toxin/g wet weight of gut contents were observed. The one control horse with detectable toxin in the ileum had been clinically diagnosed as having acute EGS, but this was not confirmed by histopathology. The organism was detected indirectly by assaying for BoNT/C by ELISA after enrichment in culture medium. C. botulinum type C was shown to be present in 48% (14/29) of ileum samples and 44% (20/45) of faecal samples from horses with EGS, compared with 7% (2/27) of ileum samples and 8% (6/72) of faecal samples from controls. These results support the hypothesis that EGS results from a C. botulinum type C toxicoinfection.

Animals↗
PubMed1996

Delayed gastric emptying: a novel gastrointestinal finding in Turner's syndrome.

AIM: To evaluate gastric emptying in girls with Turner's syndrome to detect if gastrointestinal motor dysfunction was present. SUBJECTS: Thirteen girls (mean age 8.1 years) with Turner's syndrome, seven girls with familial short stature (6.1 years), and eight control girls (7.6 years). METHODS: Gastric emptying studies were performed by using 500 microCi of technetium 99m-sulphur colloid bound to a scrambled egg, and scintigraphic measurements were made for 60 to 90 minutes. RESULTS: Mean (SD) percentage retention of gastric isotope was significantly greater in girls with Turner's syndrome than in children with short stature and in controls. Furthermore, in contrast with control subjects, in whom there was an inverse linear relationship between gastric emptying rate and body mass index, in children with Turner's syndrome the delay in gastric emptying was independent of the body mass. CONCLUSIONS: The results of the study suggest that delayed gastric emptying is detectable in girls with Turner's syndrome independent of age, body mass index, karyotype, and growth promoting treatment.

Adolescent↗
PubMed1974

Primary neuropathic amyloidosis in three brothers.

Neuropathic primary amyloidosis has not been previously described in an English family. We present the clinical and pathological findings in three brothers with this condition and suggest that they have suffered from that form of the disease described originally by Andrade.

Aged↗
PubMed1985

Familial occurrence of complement dysfunction in Crohn's disease: correlation with intestinal symptoms and hypercatabolism of complement.

Complement was studied in Crohn's disease probands with early onset and in their first degree relatives. Controls included 24 healthy volunteers and 24 patients with ulcerative colitis or peptic ulcers. Subnormal generation of chemotactic activity by the alternative pathway was shown in eight of 21 probands and in six of 33 relatives, a frequency in both groups significantly different from controls (p less than 0.005), with a strong connection between findings in patients and relatives. As previously shown in patients with Crohn's disease, the subnormal generation was related to decreased utilisation of complement C3 in relatives. Raised levels of circulating complement C3c split products suggested complement involvement in Crohn's disease probands. In contrast, plasma C3c was normal in all relatives, and none of the six cases with complement dysfunction had gastrointestinal symptoms or a history of inflammatory bowel disease. Our data suggest, that complement abnormality seen in Crohn's disease patients does not simply reflect mucosal inflammation or hypercatabolism of complement.

Adolescent↗
PubMed1992

Autonomic dysfunction in men with Parkinson's disease.

Forty-eight men with Parkinson's disease (PD) were interviewed utilizing a questionnaire which evaluated autonomic function. The study population included PD patients (mean age: 65.8 years, mean duration of PD: 8 years) and 32 elderly healthy nonparkinsonian males (mean age: 70.4 years). We found a significantly higher prevalence of the following symptoms of autonomic dysfunction in the parkinsonian patients: erectile dysfunction (60.4 vs. 37.5%), sensation of incomplete bladder emptying (41.6 vs. 15.6%), urgency (45.8 vs. 3.125%), constipation (43.9 vs. 6.25%), dysphagia (22.9 vs. 6.25%) and orthostatic dizziness (21.95 vs. 0%). Eighty-nine percent of parkinsonian patients had at least one of these autonomic symptoms, compared to 43% of control subjects (p less than 0.05). This study is the first comprehensive survey of autonomic symptomatology in PD compared to elderly healthy controls and confirms that autonomic nervous system dysfunction is a pervasive problem in PD. Erectile dysfunction is a significant problem in this patient group and contributes to deterioration in the quality of life.

Aged↗