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Biomedical subjects

B Fitzgerald

Publications and source records attributed to B Fitzgerald.

At least 19 recordsLinked to original sources
PubMed2000

Phenotype of AD-HSP due to mutations in the SPAST gene: comparison with AD-HSP without mutations.

BACKGROUND: "Pure" autosomal dominant hereditary spastic paraparesis (AD-HSP) is clinically and genetically heterogeneous. There are at least seven genetic loci with varying ages at onset and disability. The SPAST gene at the SPG4 locus on chromosome 2p is the major disease gene for AD-HSP. OBJECTIVES: To investigate whether there are distinct clinical features among families with AD-HSP due to SPAST mutations compared with families excluded from SPG4. METHODS: Nineteen families with "pure" AD-HSP were identified, and the clinical features of family members were compared using a standard protocol. With use of genetic studies, the families were divided into two groups for comparison: those with mutations in SPAST, the "mutation-positive" group, and those excluded from SPG4 on the basis of linkage studies, the "SPG4-excluded" group. RESULTS: Twenty-nine individuals from four families had mutations in SPAST, whereas 22 individuals from three families comprised the SPG4-excluded group; in 11 families, the pattern of linkage was unknown. In the one remaining family, no mutations were found despite strong linkage to SPG4. Different mutations were identified in the four SPAST pedigrees, but the clinical picture was similar in each. Comparison of the mutation-positive group with the SPG4-excluded group revealed an older age at onset (p = 0.03), more disability (p = 0.001), more rapidly progressive paraparesis (p = 0.044), and more cognitive impairment (p = 0.024) among affected individuals with SPAST mutations, not confounded by disease duration. CONCLUSION: Despite different mutations, SPAST families have a similar phenotype that can be distinguished from other genetic groups.

Adenosine Triphosphatases↗
PubMed2000

Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2p.

OBJECTIVES: To investigate whether cognitive decline is part of the phenotype of SPG4-linked hereditary spastic paraparesis (HSP) and to determine whether cognitive changes are present in haplotype carriers before the onset of paraparesis. BACKGROUND: The major locus for "pure" autosomal dominant HSP is the SPG4 locus on chromosome 2p. Cognitive impairment linked to this locus has been described in two families. METHODS: The authors identified 19 families with "pure" autosomal dominant HSP. Five had linkage to the SPG4 locus (maximum lod score for D2S2374: 5.99 at zero recombination in four smaller families and 3.86 at zero recombination in the largest family). Haplotype construction identified a disease haplotype for all families; 41 individuals carried this haplotype (30 affected by HSP, 11 unaffected). All haplotype carriers and 41 matched controls underwent Cambridge Cognitive (CAMCOG) examination. Nonparametric significance tests were used comparing total and subset scores. RESULTS: Haplotype carriers affected by HSP had lower total CAMCOG scores than control subjects (85.86/107 versus 96.2/107; p < 0.0005). The subsets of orientation, memory, language expression, and comprehension were also significantly lower. Ten individuals had scores < or =80/107, indicating mild dementia. Unaffected haplotype carriers had mean total CAMCOG scores lower than control subjects (91.82/107 versus 98. 09/107; p = 0.016). In both groups cognitive decline was age-dependent and scores diverged from control subjects from age 40. All SPG4-linked families showed the effect. CONCLUSION: Mild, age-related cognitive impairment is a feature common to these families. It illustrates variable phenotypic expression at this locus and may be the first manifestation of the disease gene in individuals as yet unaffected by paraparesis.

Adult↗
PubMed2000

A pilot study: stability of psychiatric diagnoses over 6 months in burning mouth syndrome.

Ten people with burning mouth syndrome (BMS) were interviewed by a psychiatrist using the Schedules of Clinical Assessment in Neuropsychiatry (SCAN) at initial presentation and at 6-month follow-up. A range of psychiatric disorders from the neurotic spectrum was identified using the International Classification of Diseases (ICD-10) criteria, but the diagnoses were unstable. Six of the ten individuals received a psychiatric diagnosis, suggesting that the prevalence of psychiatric morbidity is high in this common dental syndrome. Psychiatric aspects of BMS require further investigation.

Anxiety Disorders↗
PubMed2000

An investigation into diet treatment for adults with previously untreated phenylketonuria and severe intellectual disability.

There is evidence in the literature which suggests that adults with previously untreated phenylketonuria (PKU) benefit from a low phenylalanine diet. A prospective study providing a phenylalanine-restricted diet to five subjects with severe intellectual disability arising from untreated PKU is reported. Physical, social and behavioural measures were used to monitor the effects of the diet Four out of the five subjects derived considerable benefit. It is concluded that the restricted diet is worth trying in most individuals with previously untreated PKU, and that possible benefits are in the areas of concentration, alertness, mood, irritability and adaptive behaviour.

Adult↗
PubMed1999

The effect of diet composition and feeding state on the response to exercise in feed-restricted horses.

Eight Thoroughbred horses were used to determine the effects of long-term calorie restriction and diet composition on serum T4 and T3 concentrations and metabolic responses with exercise. Horses were randomly assigned to 2 treatment groups (n = 4): Group 1, horses were fed a calorie-restricted diet designed to have 70% of the calories from the roughage source (RHR); Group 2, horses were fed a calorie-restricted diet designed to have 70% of the calories from the concentrate source (RHC). Horses then completed 2 step-wise exercise tests; one following a 12 h fast and one 2 h after a meal of 2 kg of a grain mix. Glucose concentrations declined (P < 0.01) in fed horses on the RHR diet but did not change in fed horses on the RHC diet. Fasted horses receiving the RHR diet had a more rapid increase in glucose concentration during exercise compared to fasted horses receiving the RHC diet (P < 0.01) as well as the highest glucose concentration at fatigue (P < 0.05). Insulin concentrations were higher (P < 0.05) at fatigue in fed horses on the RHR diet. Fasted horses receiving the RHR diet had higher (P < 0.01) pre-exercise FFA concentrations and a more rapid decline (P < 0.01) in FFA during exercise. Serum T3 concentrations increased (P < 0.01) in response to exercise within all treatments. The differences in thyroid hormone, glucose and FFA responses to exercise suggest that calorie source may be important in the hormonal regulation and energy metabolism of horses consuming calorie deficient diets.

Animals↗
PubMed1999

Febrile-range temperature modifies early systemic tumor necrosis factor alpha expression in mice challenged with bacterial endotoxin.

Fever improves survival in acute infections, but the effects of increased core temperature on host defenses are poorly understood. Tumor necrosis factor alpha (TNF-alpha) is an early activator of host defenses and a major endogenous pyrogen. TNF-alpha expression is essential for survival in bacterial infections but, if disregulated, can cause tissue injury. In this study, we show that passively increasing core temperature in mice from the basal (36.5 to 37.5 degrees C) to the febrile (39.5 to 40 degrees C) range modifies systemic TNF-alpha expression in response to bacterial endotoxin (lipopolysaccharide). The early TNF-alpha secretion rate is enhanced, but the duration of maximal TNF-alpha production is shortened. We identified Kupffer cells as the predominant source of the excess TNF-alpha production in the warmer animals. The enhanced early TNF-alpha production observed at the higher temperature in vivo could not be demonstrated in isolated Kupffer cells or in precision-cut liver slices in vitro, indicating the participation of indirect pathways. Therefore, expression of the endogenous pyrogen TNF-alpha is regulated by increments in core temperature during fever, generating an enhanced early, self-limited TNF-alpha pulse.

Animals↗
PubMed1999

Exposure to febrile temperature upregulates expression of pyrogenic cytokines in endotoxin-challenged mice.

Fever is a phylogenetically ancient response that is associated with improved survival in acute infections. In endothermic animals, fever is induced by a set of pyrogenic cytokines [tumor necrosis factor-alpha (TNF-alpha), interleukin (IL)-1, and IL-6] that are also essential for survival in acute infections. We studied the influence of core temperature on cytokine expression using an anesthetized mouse model in which core temperature was adjusted by immersion in water baths. We showed that raising core temperature from basal (36.5-37.5 degrees C) to febrile (39.5-40 degrees C) levels increased peak plasma TNF-alpha and IL-6 levels by 4.1- and 2. 7-fold, respectively, and changed the kinetics of IL-1beta expression in response to lipopolysaccharide challenge. TNF-alpha levels were increased predominantly in liver, IL-1beta levels were higher in lung, and IL-6 levels were widely increased in multiple organs in the warmer mice. This demonstrates that the thermal component of fever may directly contribute to shaping the host response by regulating the timing, magnitude, and tissue distribution of cytokine generation during the acute-phase response.

Animals↗
PubMed1997

Clinical responses to ingested fungal alpha-amylase and hemicellulase in persons sensitized to Aspergillus fumigatus?

alpha-Amylase and hemicellulase, derived from culture of Aspergillus species, are commonly added to flour as improvers during baking. Two cases of women occupationally sensitized to alpha-amylase who developed allergic symptoms after eating baked bread have been reported. With a randomized, controlled study design, we have investigated whether similar responses occur in those sensitized to Aspergillus species. Seventeen subjects with positive skin prick tests to Aspergillus fumigatus were studied. Symptomatic and physiologic responses after ingestion of bread baked with alpha-amylase and hemicellulase were compared, in a crossover fashion, with those after ingestion of bread baked without enzymes. No increase in respiratory or other symptoms, lung function, or nonspecific bronchial hyperreactivity was reported after ingestion of the enzyme-containing bread. We conclude that important clinical reactions to alpha-amylase and hemicellulase in baked bread do not frequently occur in those sensitized to Aspergillus species.

Adult↗
PubMed1997

Adverse effects of summer amongst people with learning disabilities: neuroleptic malignant syndrome.

The existing literature regarding neuroleptic malignant syndrome (NMS) amongst people with learning disabilities is limited. We describe three case reports of people with learning disabilities from the same geographical area who developed NMS within 3 weeks of each other. This was during the hottest part of a very hot summer. The presentation of NMS is discussed. The importance of carers attending to adequate hydration for people with learning disabilities and poor communication skills during the summer months is stressed.

Adolescent↗
PubMed1996

A review of the sharpened Romberg test in diving medicine.

The use of the sharpened Romberg test (SRT) was evaluated in injured divers. Over a 12 month period, thirty five divers presenting with decompression illness (DCI) to the Naval Base in Auckland were assessed before hyperbaric treatment and at discharge. Their scores were compared with those of an age and sex matched control group (n=60). Abnormal SRTs were seen in 49% of divers (n=17) before treatment. These results were significantly improved at discharge (p<0.001). The results in injured divers were significantly lower than controls at presentation (p<0.001), but not at discharge. The SRT is consequently considered to be a valuable examination in divers who suffer DCI. It is proposed that the SRT be conducted in a standardised manner and be scored as the best attempt of four.

Adolescent↗
PubMed1994

HIV infection and cocaine use in methadone maintained and untreated intravenous drug users.

In a survey of 424 intravenous drug users (IVDUs) of whom 107 were currently enrolled in a methadone maintenance program (MMP), we assessed risk behaviors for Human Immunodeficiency Virus (HIV) transmission and conducted HIV testing. We found that African Americans were over-represented in the HIV infected group and under-represented in the methadone maintenance treatment group. Furthermore, subjects in current methadone maintenance treatment reported fewer drug injections in the last 30 days, a reduced speedball (a heroin/cocaine mixture) injection frequency and reduced total cocaine and injected cocaine use. HIV infected subjects reported 20% more cocaine use and injected cocaine use than HIV negatives. However, this difference was due to African Americans reporting more cocaine use and at the same time being over-represented in the HIV infected group. Stratified analysis by ethnicity found significant MMP effects for all ethnic groups, but only one significant HIV status effect, and this was limited to African Americans. Cocaine injection frequency in African Americans was significantly higher for the HIV infected versus non-infected subjects. We conclude that i.v. cocaine use is a risk factor associated with HIV infection and that methadone maintenance treatment is associated with reducing this risk factor. Furthermore, African American cocaine users are at great risk for HIV infection, and increased efforts for engagement in treatment are necessary.

Adolescent↗
PubMed1993

Improving ambulatory oncology nursing practice. An innovative educational approach.

To meet the educational needs of ambulatory oncology nurses, an innovative and flexible program was created at a major cancer institute in Canada. Utilizing adult learning principles, standards of nursing practice, and departmental goals, the Clinical Nurse Specialists and Clinical Teachers creatively approached the need for extensive education. Five site specific educational workshops were provided to the nursing staff utilizing a self-directed learning style to capture the varied experiences, educational background, and motivations of the staff. This paper highlights the necessary program elements, implementation of, and evaluation of the educational program.

Ambulatory Care↗
PubMed1992

Genioglossus hemorrhage after blunt facial trauma.

We present the case of a 28-year-old man admitted to a Level I trauma center after a motorcycle crash in which he sustained blunt trauma to the face and neck, including a mandibular ramus fracture. The patient had no airway compromise on admission, but he acutely developed significant partial upper airway obstruction necessitating emergency endotracheal intubation and subsequent tracheostomy approximately 36 hours after admission. This obstruction was caused by an expanding hematoma of the genioglossus muscle. Potential causes of this complication are presented, and signs and symptoms of upper airway obstruction and airway management strategies are discussed. The etiology of traumatic upper airway obstruction is reviewed.

Accidents, Traffic↗
PubMed1991

Muscarinic M2 receptors in rat brain labeled with [3H] AF-DX 384.

The muscarinic antagonist AF-DX 384 (5,11-dihydro-11-(((2-(2-((dipropylamino)methyl)-1- piperidinyl)ethyl)amino)carbonyl)-6H-pyrido(2,3b)(1,4)-benzodiazepin+ ++-6-one methansulfonate) was used to label cholinergic muscarinic receptors of the M2 subtype in rat brain. In the brainstem [3H] AF-DX 384 labeled a single population of binding sites with Kd = 3-4 nM and Bmax = 430-610 fmol/mg of protein. The pharmacological profile of these sites was similar to that observed with the muscarinic M2 agonist [3H] AF-DX 116. Muscarinic M2 receptors were unequally distributed in rat brain regions: in brainstem, about 80% of total muscarinic receptors (measured with [3H] quinuclidinyl benzilate) were labeled by [3H] AF-DX 384, while in other brain areas they represented only a fraction of total binding. Because of its high specific binding, high affinity and specificity, [3H] AF-DX 384 represents a useful novel ligand to study M2 receptors in brain tissue.

Animals↗