Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous disorder that has been associated with alterations of several proteins: peripheral myelin protein 22, myelin protein zero, connexin 32, early growth response factor 2, periaxin, myotubularin related protein 2, N-myc downstream regulated gene 1 product, neurofilament light chain, and kinesin 1B. To determine the frequency of mutations in these genes among patients with CMT or a related peripheral neuropathy, we identified 153 unrelated patients who enrolled prior to the availability of clinical testing, 79 had a 17p12 duplication (CMT1A duplication), 11 a connexin 32 mutation, 5 a myelin protein zero mutation, 5 a peripheral myelin protein 22 mutation, 1 an early growth response factor 2 mutation, 1 a periaxin mutation, 0 a myotubularin related protein 2 mutation, 1 a neurofilament light chain mutation, and 50 had no identifiable mutation; the N-myc downstream regulated gene 1 and the kinesin 1B gene were not screened for mutations. In the process of screening the above cohort of patients as well as other patients for CMT-causative mutations, we identified several previously unreported mutant alleles: two for connexin 32, three for myelin protein zero, and two for peripheral myelin protein 22. The peripheral myelin protein 22 mutation W28R was associated with CMT1 and profound deafness. One patient with a CMT2 clinical phenotype had three myelin protein zero mutations (I89N+V92M+I162M). Because one-third of the mutations we report arose de novo and thereby caused chronic sporadic neuropathy, we conclude that molecular diagnosis is a necessary adjunct for clinical diagnosis and management of inherited and sporadic neuropathy.
To determine the effects of yohimbine and tolazoline on the cardiovascular, respiratory and sedative effects of xylazine, four horses were sedated with xylazine and treated with either yohimbine, tolazoline or saline. Xylazine was administered as an intravenous (i.v.) bolus (1.0 mg/kg) followed by a continuous infusion at the rate of 12 micrograms/kg/min. Heart rate, respiratory rate, mean arterial pressure, arterial blood gases, and the chin-to-floor distance were recorded throughout the experiment. After 60 min, either yohimbine or tolazoline was administered i.v. in incremental doses until reversal of sedation (defined as the return of the chin-to-floor distance to baseline values) was achieved. A control group in which a saline bolus was administered instead of an antagonist drug was included for comparison. The average dose of yohimbine administered was 0.12 +/- 0.02 (SEM) mg/kg. While the average dose of tolazoline was 7.5 +/- 1.1 mg/kg. Both tolazoline and yohimbine antagonized the ventricular bradycardia and A-V conduction disturbances observed with xylazine administration. No change in mean arterial pressure was observed with xylazine or yohimbine administration, but tolazoline caused persistent mild systemic hypertension. There were no clinically significant changes in respiratory rate or arterial blood gas values with administration of either xylazine, yohimbine or tolazoline. The chin-to-floor distance decreased significantly with xylazine administration and increased significantly with administration of either yohimbine or tolazoline. In conclusion, both yohimbine and tolazoline successfully antagonized the cardiovascular and CNS depression associated with xylazine administration.
Summary:The patient underwent allogeneic BMT in February 1995 from a 5/6 HLA-matched sister. The conditioning regimen consisted of thiotepa 5 mg/kg, CY 60 mg/kg/day × 2 and Invasive fungal infections are a complication of allogeneic BMT. We report the first case of a Neosartorya fractionated TBI to a total dose of 1200 cGy. The transplanted marrow was depleted selectively of T lymphocytes fischeri fungal infection in a patient following allogeneic BMT. Neosartorya fischeri is related to Aspergillus fumiby incubation of a Ficoll preparation of the donor bone marrow on anti-CD5 and anti-CD8 antibody coated plates gatus, but it is a distinct fungal species. Despite granulocytic engraftment and aggressive anti-fungal therapy (Cellector, AIS, Santa Clara, CA, USA). GVHD prophylaxis consisted of MTX, CsA, and methylprednisolone. The with amphotericin B, the patient died of overwhelming fungal infection on day 60 post-BMT. Neosartorya fispatient received antimicrobial prophylaxis with minocycline, norfloxacin and fluconazole. The hospital course was cheri is a pathogen that grows slowly in culture which can delay or confuse identification. This case further complicated by Streptococcus sanguis bacteremia requiring treatment with i.v. vancomycin on day 5 post-BMT. The supports the need for more effective prophylaxis and treatment of non-Candida fungal infections in the allogpatient achieved an absolute neutrophil count of 500 cells/ l on day 20 post-BMT, but was still platelet-transeneic BMT population. Keywords: Neosartorya fischeri; infection; bone marfusion dependent. On day 28, multiple small dark purpuric skin lesions row transplantation were noted on the arms, shoulders and trunk ranging in size from 0.3 to 1 cm in diameter. Within 1 to 2 days, the lesions developed central necrosis. Skin biopsy revealed fungal Case report organisms and biopsy cultures grew an unidentified fungal organism in the on-site laboratory. The fluconazole was A 48-year-old male presented in September 1994 with stopped, and the patient was started on amphotericin B at fever, anemia, thrombocytopenia, and a white blood cell a dose of 1 mg/kg daily. An attempt was made to taper count of 145 000 per l. The bone marrow aspirate demonthe methylprednislone which resulted in a flare of GVHD strated 100% cellularity with 90% blasts that were PAS manifested by a stage 2 skin and stage 2 liver involvement positive and Sudan Black negative, most consistent with to an overall grade of 3. Steroids were increased to 1 L2 acute lymphoblastic leukemia. However, by flow cytomg/kg/day resulting in stage 1 skin and liver disease. On metry, the leukemia cells were positive for CD19, CD34, day 33 the patient developed slurred speech and had a focal CD13, and CD38 antigens and negative for cell surface right-sided seizure. Lumbar puncture was negative and a immunoglobulin, consistent with an undifferentiated leukehead magnetic resonance imaging (MRI) demonstrated left mia. Cytogenetic analysis demonstrated a 2q:4q reciprocal temporal edema with no enhancement. ...
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