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1.
Phillip F. Chance 《Neuromolecular medicine》2006,8(1-2):159-173
Hereditary neuropathy with liability to pressure palsies (HNPP; also called tomaculous neuropathy) is an autosomal-dominant
disorder that produces a painless episodic, recurrent, focal demyelinating neuropathy. HNPP generally develops during adolescence,
and may cause attacks of numbness, muscular weakness, and atrophy. Peroneal palsies, carpal tunnel syndrome, and other entrapment
neuropathies may be frequent manifestations of HNPP. Motor and sensory nerve conduction velocities may be reduced in clinically
affected patients, as well as in asymptomatic gene carriers. The histopathological changes observed in peripheral nerves of
HNPP patients include segmental demyelination and tomaculous or “sausage-like” formations. Mild overlap of clinical features
with Charcot-Marie-Tooth (CMT) disease type 1 (CMT1) may lead patients with HNPP to be misdiagnosed as having CMT1. HNPP and
CMT1 are both demyelinating neuropathies, however, their clinical, pathological, and electrophysiological features are quite
distinct. HNPP is most frequently associated with a 1.4-Mb pair deletion on chromosome 17p12. A duplication of the identical
region leads to CMT1A. Both HNPP and CMT1A result from a dosage effect of the PMP22 gene, which is contained within the deleted/duplicated region. This is reflected in reduced mRNA and protein levels in sural
nerve biopsy samples from HNPP patients. Treatment for HNPP consists of preventative and symptom-easing measures. Hereditary
neuralgic amyotrophy (HNA; also called familial brachial plexus neuropathy) is an autosomal-dominant disorder causing episodes
of paralysis and muscle weakness initiated by severe pain. Individuals with HNA may suffer repeated episodes of intense pain,
paralysis, and sensory disturbances in an affected limb. The onset of HNA is at birth or later in childhood with prognosis
for recovery usually favorable; however, persons with HNA may have permanent residual neurological dysfunction following attack(s).
Episodes are often triggered by infections, immunizations, the puerperium, and stress. Electrophysiological studies show normal
or mildly prolonged motor nerve conduction velocities distal to the affected brachial plexus. Pathological studies have found
axonal degeneration in nerves examined distal to the plexus abnormality. In some HNA pedigrees there are characteristic facial
features, including hypotelorism. The prognosis for recovery of normal function of affected limbs in HNA is good, although
recurrent episodes may cause residual deficits. HNA is genetically linked to chromosome 17q25, where mutations in the septin-9 (SEPT9) gene have been found. 相似文献
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3.
Nonorganic failure-to-thrive is a medical-psychological disorder reflecting lack of growth in an infant without apparent physical causes. Children who fail to thrive as infants are at high risk for developmental delays, personality problems, abuse, and death. This article focuses on environmental failure-to-thrive, describing the behavioral characteristics of the nonthriving infant and the family milieu. Aspects of early environments of NOFT infants are profiled, specific intervention strategies are discussed, and recommendations regarding the promotion of intense, consistent multi-disciplinary intervention strategies are advanced. 相似文献
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5.
Angelo Lipira David Limbrick Bruce Haughey Phillip Custer Michael R. Chicoine 《Skull base》2009,19(4):303-309
6.
Robotic-assisted heller myotomy versus laparoscopic heller myotomy for the treatment of esophageal achalasia: multicenter study 总被引:3,自引:0,他引:3
Santiago Horgan M.D. Carlos Galvani M.D. Maria V. Gorodner M.D. Pablo Omelanczuck M.D. Fernando Elli M.D. Federico Moser M.D. Luis Durand M.D. Miguel Caracoche M.D. Jorge Nefa M.D. Sergio Bustos M.D. Phillip Donahue M.D. Pedro Ferraina M.D. 《Journal of gastrointestinal surgery》2005,9(8):1020-1030
Laparoscopic Heller myotomy (LHM) has become the standard treatment option for achalasia. The incidence of esophageal perforation
reported is about 5%–10%. Robotically assisted Heller myotomy (RAHM) is emerging as a safe alternative to LHM. Data comparing
the two approaches are scant. The aim of this study was to compare RAHM with LHM in terms of efficacy and safety for treatment
of achalasia. A total of 121 patients underwent surgical treatment of achalasia at three institutions. A retrospective review
of prospectively collected perioperative data was performed. Patients were divided into two groups: group A (RAHM), 59 patients,
and group B (LHM), 62 patients. All the operations were completed using minimally invasive techniques. There were 63 women
and 58 men, with a mean age of 45 ±19 years (14–82 years). Fifty-one percent of patients in group A and 95% of patients in
group B reported weight loss. Duration of symptoms was equal for both groups. Dysphagia was the main complaint in both groups
(P = NS). There was no difference in preoperative endoscopic treatment in both groups (44% versus 27%, P = NS). Operative
time was significantly shorter for LHM in the first half of the experience (141 ± 49 versus 122 ± 44 minutes, P < .05). However,
in the last 30 cases there was no difference in operative time between the groups (P = NS). Intraoperative complications (esophageal
perforation) were more frequent in group B (16% versus 0%). The incidence of postoperative heartburn did not differ by group.
There were no deaths. At 18 and 22 months, 92% and 90% of patients had relief of their dysphagia. This study suggests that
RAHM is safer than LHM, because it decreases the incidence of esophageal perforation to 0%, even in patients who had previous
treatment. At short-term follow-up, relief of dysphagia was equally achieved in both groups.
Presented at the Forty-Sixth Annual Meeting of The Society for Surgery of the Alimentary Tract, Chicago, Illinois, May 14–18,
2005 (oral presentation).
This study was supported in part by a grant provided by Intuitive Surgical, Inc. and Ethicon Endo-Surgery, Inc. 相似文献
7.
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9.
Gary D. Pipes Phillip Campbell Pavel V. Bondarenko Bruce A. Kerwin Michael J. Treuheit Himanshu S. Gadgil 《Journal of pharmaceutical sciences》2010,99(11):4469-4476
A middle-down LC/MS approach, for the rapid quantitation and characterization of site-specific methionine oxidation in a recombinant monoclonal IgG1 molecule, is described. An IgG1 antibody was digested with endoprotease LysC under limited proteolytic conditions to produce two major components; an antigen binding fragment (Fab) and a crystallizable fraction (Fc). These fractions were then reduced to produce three major species; light chain (LC), Fc/2 which is the C terminal region of the heavy chain (HC) and the N-terminal heavy chain region (Fd). These three fragments were separated by reversed-phase HPLC using a diphenyl column. The diphenyl column resolved site-specific methionine oxidation in all three subunits. Middle- down N-terminal sequencing with a LCT premier mass spectrometer was used to identify the sites of oxidation in the LC. Sites of oxidation in the Fc/2 were identified using middle-down collision-induced dissociation (CID) on a Qtof premier. This method allowed for the rapid quantitation and identification of oxidation on each methionine residue in an IgG1 molecule. 相似文献
10.