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Biomedical subjects

R J Coleman

Publications and source records attributed to R J Coleman.

At least 19 recordsLinked to original sources

Germline mutations in Dok1 do not predispose to chronic lymphocytic leukemia.

The genetic basis of familial CLL is poorly understood and to date no gene which when mutated in the germline has been unambiguously shown to confer susceptibility to the disease. Dok1 maps to chromosome 2p13, a region commonly rearranged in CLL. Dok1 inhibits MAP kinase activity, down-regulates cell proliferation and has a suppressive effect on cellular transformation and B-cell signalling pathways. A recent report has implicated mutation of Dok1 in the aetiology of CLL. To examine the proposition that germline mutations in Dok1 act as high penetrance susceptibility alleles for CLL we screened 140 familial cases for functional sequence variants. No pathogenic mutations were detected. This result indicates that germline mutations in Dok1 are unlikely to cause an inherited predisposition to CLL.

Adult↗

Postprandial glucose and insulin responses to a postexercise grain meal.

Many studies have examined the effect of pre-exercise feeding on glucose and insulin responses of horses. The objective of this study was to determine whether exercise performed one hour prior to a meal would attenuate the glucose and insulin responses to a meal. Data collected from 8 mature geldings in a 2 period crossover design experiment were used to determine the postprandial glucose and insulin responses to a meal of oats offered 1 h postexercise. During each period, 4 horses received a test meal following a 14 h fast (NoEx) or a 14 h fast and exercise bout (PostEx) that consisted of 48 min walking and trotting. Blood samples were collected before and at 30 min intervals for 5 h after the meal was offered. Glucose and insulin concentrations were similar between treatments at all time points (P>0.15). Postprandial glucose and insulin concentrations increased at similar rates in both groups from 0 to 90 min. Peak glucose and insulin concentrations and area under the response curves were similar between treatment groups. Glucose:insulin was not different between treatment groups at any time point before or after the meal (P>0.17). Overall, the 48 min of light work performed 1 h before a meal did not affect glucose or insulin responses to the meal. A one hour interval after mild exercise appears to be sufficient to allow normal glucose metabolism of a grain meal.

Animals↗

Effect of frusemide on bodyweight loss and recovery in racing Standardbreds.

This study was conducted to compare bodyweight (bwt) loss and recovery in Standardbred horses receiving frusemide compared to controls. Thirty Standardbred horses from 7 training stables that were racing at the Red Mile in Lexington, Kentucky, during the spring 2001 pari-mutuel meeting were studied. Fourteen horses (FRU) received frusemide (250 mg/horse i.v.) 4 h prior to racing, while 16 horses (NFRU) did not received frusemide. Horses were weighed on the morning of race day, prior to warm-up, after racing and the next day. Changes in bwt were calculated as percentage increase or decrease from initial bwt. Prior to warm-up, FRU horses had a mean bwt reduction of 1.30 +/- 0.63%, (P<0.01), compared to a 0.19 +/- 0.63% increase for the NFRU horses. FRU horses had a greater (P<0.03) postrace bwt loss (3.55 +/- 0.55%) than the NFRU horses (2.71 +/- 0.66%). On the morning after racing, bwt was still below initial values by 0.90 +/- 0.55 and 1.24 +/- 0.35% for the FRU and the NFRU horses, respectively. While frusemide administration increased the postrace weight loss in racing Standardbreds, it did not affect short-term bwt recovery. Further research is required into management strategies required to allow horses to replenish fluids and electrolytes safely following strenuous exercise.

Acid-Base Equilibrium↗

Pure squamous cell carcinoma of the breast in a patient with previous adenocarcinoma of the breast: a case report and review of the literature.

We report a case of squamous cell carcinoma of the breast in a patient with previous adenocarcinoma in the unilateral breast. Squamous cell carcinoma is often cystic in nature with a variable presentation on mammogram. Its diagnosis necessitates the preclusion of a primary site of squamous carcinoma elsewhere in the body. The treatment of this cancer is similar to other types of breast carcinoma. Its prognosis remains unclear.

Breast Neoplasms↗

Magnetic misreaching.

Ms D., a 76 year-old woman with a slowly progressive bilateral parietal lobe degeneration, showed an unusual variant of misreaching as yet unreported. When required to reach to a target in extrafoveal vision, she slavishly reached straight to the foveal fixation point instead ("magnetic misreaching"). Three dimensional recordings of limb movements to foveal and extrafoveal targets revealed that her reach endpoints were determined by the place she was looking, independent of the distance between target and fixation point. The sign was present in both hands. Magnetic misreaching differs from motor misbehaviours which follow frontal lobe damage. The neuropsychological and behavioural profile of Ms D., coupled with neuroimaging evidence suggest that magnetic misreaching is a manifestation of parietal lobe dysfunction.

Aged↗

Useless hand of Oppenheim--magnetic resonance imaging findings.

A patient with multiple sclerosis developed a useless, deafferented left hand, as described previously by Oppenheim. Magnetic resonance imaging demonstrates that this is caused by an ipsilateral plaque of demyelination in the posterior columns of the cervical cord.

Adult↗

Abdominal wall weakness due to thoracic syringomyelia.

We describe a patient who presented with unilateral abdominal herniation due to weakness of abdominal musculature, associated with extensive syringomyelia. Electromyographic evidence of focal denervation and reinnervation was present in the weak muscles consistent with anterior horn cell loss. We compare these unusual clinical features with the more typical presentations of syringomyelia and with other neurologic causes of abdominal weakness.

Abdominal Muscles↗

Nasogastric and intravenous infusions of (+)-4-propyl-9-hydroxynaphthoxazine (PHNO) in Parkinson's disease.

(+)-4-propyl-9-hydroxynaphthoxazine (PHNO) is a new dopamine agonist which is capable of producing a sustained response in parkinsonian patients with "on-off" fluctuations when given as a continuous infusion either nasogastrically or intravenously. These data suggest that a sustained release formulation of PHNO may provide a significant, new treatment for patients with "on-off" fluctuations.

Adult↗

Cerebellar syndrome with hydrocephalus due to Mycoplasma pneumoniae infection.

A 27 year old woman developed a cerebellar syndrome with serological evidence of recent Mycoplasma pneumoniae infection. The cranial computed tomographic scan showed effacement of the fourth ventricle, enhancement of the basal meninges and hydrocephalus affecting the lateral and third ventricles. Clinical and radiological recovery occurred over 5 weeks. We propose that this was a manifestation of immune-mediated encephalomyelitis induced by the infection rather than direct invasion of the central nervous system.

Adult↗

The antiparkinsonian actions and pharmacokinetics of transdermal (+)-4-propyl-9-hydroxynaphthoxazine (+PHNO): preliminary results.

(+)-4-Propyl-9-hydroxynaphthoxazine (+PHNO) is a potent dopamine agonist that has been administered transdermally to four patients with Parkinson's disease and "on-off" fluctuations. Skin patches of increasing size were used to treat these patients, who also received infrequent doses of oral levodopa if required. The effect of +PHNO was measured as an increased duration of action of individual levodopa doses. The clinical effect measured in this way was directly proportional to the plasma concentrations of +PHNO achieved. The plasma concentrations of +PHNO began to rise 4-6 h after patch application and reached a steady state by 24 h. The final plasma concentration of +PHNO was proportional to the area of skin covered.

Administration, Cutaneous↗

The diverse neurological features of Niemann-Pick disease type C: a report of two cases.

Two cases of Niemann-Pick disease type C are described in order to illustrate the variable neurological features of this rare condition. One presented with a predominantly akinetic-rigid syndrome at the age of 5 years. The second developed progressive ataxia, accompanied by a vertical gaze palsy, when she was 13. Neither patient had hepatosplenomegaly; the diagnosis of Niemann-Pick disease type C was based on finding foamy storage cells in bone marrow aspirates.

Adolescent↗