Practice basics: quick neurovascular examination of the leg and foot.
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Documentation↗
Biomedical subjects
M Patterson
Publications and source records attributed to M Patterson.
Diego antibodies.
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Blood Group Antigens↗
Lisfranc's or tarsometatarsal fracture-dislocation.
Lisfranc's injuries are one of the most commonly missed fractures in a multitrauma patient. Failure to recognize and treat such an injury can lead to acute (e.g., compartment syndrome of the foot) and chronic problems (e.g., arthritis). A list of reminders is included to help with the recognition and treatment of Lisfranc's injuries (Table 1).
Adult↗
An open-label, 24-week pilot study of the methyl donor betaine in Alzheimer disease patients.
We investigated the safety and tolerability of betaine in patients with Alzheimer disease (AD). Betaine is an alternative methyl donor, distinct from the folate-and cobalamin-dependent conversion pathway between homocysteine and methionine. Betaine has been used successfully to reduce homocysteine levels in homocystinuria. The rationale for betaine in AD was to decrease serum homocysteine levels and to increase brain methionone and S-adenosylmethionine, both of which might delay disease progression. Hyperhomocysteinemia is a possible risk factor for AD. Eight patients with probable mild AD (7 men; mean age, 69.6 years; mean Mini-Mental State Exam score, 23.7) received oral betaine (3 g twice daily) for 24 weeks. All patients were on donepezil 10 mg/day for at least 3 months before entry and throughout the study. One patient suffered a myocardial infarction and withdrew after 6 weeks. Another patient, who completed the trial, experienced diarrhea and prostatitis. Four of the 7 patients who completed the trial were rated on the Clinician's Global Impression of Change as worse after 24 weeks. On the cognitive portion of the AD Assessment Scale, 2 patients worsened by at least five points over 24 weeks, whereas the others had changes in scores of no more than two points either way. Six of 8 patients tolerated betaine for 24 weeks without difficulty. Several patients worsened over 24 weeks, but as a pilot study without a control group, efficacy measurements cannot be interpreted. The current study provides a basis for pursuing larger controlled trials with betaine in AD. The homocysteine to S-adenosylmethionine pathway is of interest in AD therapeutics.
Administration, Oral↗
Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.
PURPOSE: Congenital disorders of glycosylation (CDG) result from mutations in N-glycan biosynthesis. Mutations in phosphomannomutase (PMM2) cause CDG-Ia. Here, we report four clinically mild patients and their mutations in PMM2. METHODS: Analysis of the PMM2 cDNA and gene revealed the mutations affecting the glycosylation efficiency. RESULTS: The patients have 30% to 50% normal PMM activity in fibroblasts due to different mutations in PMM2, and we studied the effect of each mutation on the PMM activity in a Saccharomyces cerevisiae expression system. CONCLUSIONS: Each patient carried a severe mutation that decreased the PMM activity to less than 10% as well as a relatively mild mutation. A new mutation, deletion of base 24, changed the reading frame. The C9Y, C241S, and L32R mutations showed 27% to 45% activity when expressed in the eukaryotic expression system, and the more severe D148N was shown to be thermolabile.
Alleles↗
Rearrangement of valproate glucuronide in a patient with drug-associated hepatobiliary and renal dysfunction.
Formation of beta-glucuronidase-resistant "glucuronides" of valproic acid (VPA) by intramolecular rearrangement of biosynthetic valproate glucuronide in vivo was investigated in a patient diagnosed with VPA-associated hepatobiliary and renal dysfunction. Plasma elimination half-life of VPA following cessation of the drug was 13.9 h. At the time of the toxicity, the concentration of conjugated VPA in plasma was very high (36-54% of nonconjugated VPA levels) relative to that in normal patients (2.9%). The fraction of conjugated VPA resistant to beta-glucuronidase hydrolysis was 0.28-0.47 in plasma and 0.15-0.42 in urine. The corresponding fraction in urine from normal patients receiving VPA therapy was 0.044. The evidence was consistent with retarded elimination of biosynthetic VPA glucuronide caused by renal and hepatobiliary dysfunction. Consequent prolongation of circulation of VPA glucuronide at the slightly alkaline pH of blood would permit extensive intramolecular rearrangement which is known to be pH-, temperature-, and time-dependent. The biological consequences of the presence of such beta-glucuronidase-resistant conjugated VPA in vivo are largely unknown.
Adolescent↗
[Serology of treponematoses in certain populations of the Argentinian Chaco].
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Adolescent↗