Biomedical subjects
Publications and source records attributed to M Miller.
Asymmetric crying facies is a common neonatal problem with multiple causes. Asymmetric crying facies occurred in a newborn, secondary to familial hypoplasia of the anguli oris depressor muscle. The differential diagnosis of asymmetric crying facies should include this genetic cause.
62 patients with neurofibromatosis (from 54 families) whose signs or symptoms began in childhood were assessed as to the severity of disease and whether the individual was a new mutation or born to an affected father or mother. The morbidity of disease was much more severe in cases born to affected mothers than in those born to affected fathers or those who were new mutations. This finding suggests that there may be a maternal effect in neurofibromatosis similar to that which has been observed in myotonic dystrophy. This effect may be humorally mediated.
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1. Both valinomycin and p-trifluoromethoxy carbonyl cyanide phenylhydrazone (FCCP) are required for full release of respiration by cytochrome c oxidase-containing proteoliposomes (prepared by sonicating beef heart cytochrome aa3 in salt solution with 4 parts phosphatidylcholine, 4 parts phosphatidylethanolamine and 2 parts cardiolipin) in the presence of external ascorbate and cytochrome c. In the absence of valinomycin the response to FCCP is rather sluggish, as reported by Wrigglesworth et al. (1976) (Abstracts, 10th Int. Congr. Biochem., No. 06-6-230). 2. The Km for cytochrome c in 67 mM, pH 7.4, phosphate buffer with ascorbate as substrate, was 9 micrometer in both absence and presence of valinomycin and FCCP. Energization thus acts non-competitively towards cytochrome c oxidation. 3. The apparent Km for oxygen is greater in the energized than in the deenergized state; double reciprocal plots of respiration rate versus oxygen concentration are concave downward in the absence of uncouplers, as found with intact mitochondria. Energization thus acts "competitively" towards oxygen. 4. Despite the lack of a functional ATPase system, all the kinetic features of energization found in intact mitochondria can be mimicked in the reconstituted liposomes. This supports the chemiosmotic idea that electrical and perhaps H+ gradients modify the oxidase activity in reconstituted vesicles.
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A case of repeat mitral valve replacement during the same pregnancy is reported. Pre and post-operative care of the patient and her pregnancy are discussed. The hazards of anticoagulation during pregnancy are reviewed.
A 27 year old man with multiple findings of the Noonan syndrome ("male Turner" phenotype) presented with chronic lymphedema which was also present in his mother. Noonan syndrome should be considered in the differential diagnosis of chronic or familial lymphedema.
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During a four-month period, 1,164 patients presented to the surgical section of our Emergency Services (ES) with chief complaints involving the hand. Patient records were analyzed for several variables including demographics, diagnosis and therapeutic procedures. Lacerations were the most frequent injury, 61.5% (n=716) with deep structure injuries present in 6.1% (n=44). Of deep structure injuries, 36.4% were tendon lacerations, 27.2% were nerve injuries, and 36.4% were compound fractures. "Bites" accounted for 5.2% (37) of all lacerations, eight of which were human bites. Fractures were the second most frequent injury, (11.4%) and involved 143 separate bones. Infections were present in 7%; over half were paronychias. There were 42 (3.6%) thermal injuries.
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The incidence and prevalence of diabetes mellitus were determined in 3733 Pima Indians aged 5 years or over by periodic examinations over a 10-year period. The examinations included modified glucose tolerance tests and medical record review. The age-sex adjusted prevalence rate was 21.1% (SE = 0.7%). Prevalence was low in childhood and plateaued at 40--50% in adults over 35 years of age. The age-sex adjusted incidence rate of 26.5 cases/1000 person-years (SE = 1.9) is the highest reported diabetes incidence known to the authors. Incidence increased from low levels in childhood to peak at age 40 (males) or 50 (females) and then gradually declined. Diabetes incidence was 19 times that in the predominantly white population of Rochester, Minnesota (95% confidence interval, 16 to 22 times). The high incidence rate was found despite using a more stringent diagnostic criterion than customarily employed, and was shown not be due to biased follow-up of subjects.
Patients being permanently paced for symptomatic AV block were studied by overdrive suppression of the QRS-inhibited pacemaker, in order to observe the underlying heart rhythm. The chest wall stimulation method was used. In complete AV block the escape rhythm recovery time proved highly reproducible on repeated testing on the same day, and in many patients remained so over months or years. Occasionally, a doubling of the escape rhythm recovery time was seen, suggesting initial exit block of the escape focus. Resetting of the escape rhythm usually followed an exponential curve until stabilisation after about 3 minutes. An early escape rhythm with a recovery time of less than 4 seconds was found on every occasion in 21 of 58 patients with complete AV block, and inconstantly in 23 more; in 14 it was never observed. Accidental pacing failure was seen in 15 patients. The overdrive suppression test was helpful in selecting pacemaker dependent patients.
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Detailed study of four patients with BD, four controls with recurrent aphthous stomatitis, and 12 healthy controls has demonstrated markedly decreased levels of salivary SC in both its free and bound forms, and normal total protein concentration in BD salivas. In two BD patients, SC deficiency was also found in jejunal fluids. Depressed in vitro response of blood T cells to mitogens was also noted in BD. Levels of IgA in serum were normal, as well as total numbers of T cells and IgA-carrying B cells in blood. A fluid phase abnormality of the fibrinolytic system as tested by the clot lysis assay was demonstrated in the blood from BD patients. Studies of BD SF and synovial membrane by light and electron microscopy showed inclusions composed of degenerated neutrophils inside monocytes. Abnormalities of host defense mechanisms at the mucous membrane level due to SC deficiency, together with a systemic T cell functional defect and fibrinolytic abnormality, could be important mechanisms in the pathogenesis of recurrent mucosal ulcers and thrombosis in BD.
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