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1.
Clinical Spectrum of Capillary Malformation–Arteriovenous Malformation Syndrome Presenting to a Pediatric Dermatology Practice: A Retrospective Study
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Nicole A. Weitz M.D. Christine T. Lauren M.D. Gerald G. Behr M.D. June K. Wu M.D. Jessica J. Kandel M.D. Philip M. Meyers M.D. Sally Sultan M.D. Kwame Anyane‐Yeboa M.D. Kimberly D. Morel M.D. Maria C. Garzon M.D. 《Pediatric dermatology》2015,32(1):76-84
Capillary malformation–arteriovenous malformation syndrome (CM‐AVM) is an autosomal dominant disorder caused by RASA1 mutations. The prevalence and phenotypic spectrum are unknown. Evaluation of patients with multiple CMs is challenging because associated AVMs can be life threatening. The objective of this study was to describe the clinical characteristics of children presenting with features of CM‐AVM to an academic pediatric dermatology practice. After institutional review board approval was received, a retrospective chart review was performed of patients presenting between 2009 and 2012 with features of CM‐AVM. We report nine cases. Presenting symptoms ranged from extensive vascular stains and cardiac failure to CMs noted incidentally during routine skin examination. All demonstrated multiple CMs, two had Parkes Weber syndrome, and two had multiple infantile hemangiomas. Seven patients had family histories of multiple CMs; three had family histories of large, atypical CMs. Six had personal or family histories of AVMs. Genetic evaluation was recommended for all and was pursued by six families; four RASA1 mutations were identified, including one de novo. Consultations with neurology, cardiology, and orthopedics were recommended. Most patients (89%) have not required treatment to date. CM‐AVM is an underrecognized condition with a wide clinical spectrum that often presents in childhood. Further evaluation may be indicated in patients with multiple CMs. This study is limited by its small and retrospective nature. 相似文献
2.
Growth Hormone Induces Recurrence of Infantile Hemangiomas After Apparent Involution: Evidence of Growth Hormone Receptors in Infantile Hemangioma
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Naikhoba C. O. Munabi B.A. Qian Kun Tan H.S. Maria C. Garzon M.D. Gerald G. Behr M.D. Carrie J. Shawber Ph.D. June K. Wu M.D. 《Pediatric dermatology》2015,32(4):539-543
Infantile hemangiomas (IHs) are the most common benign tumor of infancy, characterized by a natural history of early proliferation in the first months of life to eventual involution during childhood, often with residual fibrofatty tissue. Once involution has been achieved, IHs do not typically recur. We present two cases of exogenous growth hormone therapy resulting in the recurrence of IHs in late childhood, supported by radiological, immunohistochemical, in vitro, and in vivo evidence. 相似文献
3.
Intracranial circulation: pulse-sequence considerations in three- dimensional (volume) MR angiography 总被引:2,自引:0,他引:2
The technique and feasibility of magnetic resonance (MR) angiography of intracranial vessels were studied in 35 healthy volunteers. Variations in image orientation, repetition time (TR), and flip angle were evaluated to determine their effects on flow-related enhancement. Gradient modifications--including echo time (TE), motion compensation, bandwidth, and field of view--were also studied in an effort to reduce motion-induced phase shifts. Results indicated that a FISP (fast imaging with steady precession) sequence with a TR of 50 msec, TE of 15 msec, velocity compensation in the read and section-select directions, acceleration compensation in the read direction, anisotropic volume, and a 1.25-mm partition thickness produced three-dimensional angiographic MR images that were accurate and reproducible in the depiction of the major intracranial vessels. Difficulties with field of view, persistent signal void secondary to higher-order motion, and spatial resolution remain major problems requiring additional study. 相似文献
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Nicolas Borenstein Valérie Chetboul Patrick Bruneval Mehrak Hekmati Renaud Tissier Luc Behr Geneviève Derumeaux Didier Montarras 《European journal of cardio-thoracic surgery》2007,31(3):444-451
OBJECTIVE: Cell therapy may be a promising alternative or adjunct to current treatment modalities for ischemic heart failure. But little is known on the impact of myogenic cell transplantation in large animal models of non-ischemic cardiomyopathy. The aim of the present study was to explore whether an ovine model of toxin-induced heart disease could benefit from non-cultured skeletal muscle cell transplantation. METHODS: Sequential intracoronary injections of doxorubicin (0.75 mg/kg) were carried out every 2 weeks until echocardiographic detection of myocardial dysfunction. Sheep were then randomly assigned to either non-cultured cell transplantation (n=8) or placebo injection (n=5). For the cell therapy group, a skeletal muscle biopsy (about 10 g) was explanted from each animal approximately 3h before grafting. After thoracotomy, 20 epicardial injections were carried out. The animals were assessed one last time before sacrifice, 2 months after the thoracotomy. Cells were tracked with cmDiI (red fluorescence) and characterized with immunohistochemistry with monoclonal antibodies to a fast skeletal isoform of myosin heavy chain. RESULTS: Two months after intramyocardial grafting, tissue Doppler imaging and conventional echocardiographic assessment of the groups showed a marked improvement in the non-cultured cell therapy group. Ejection fraction (EF) (p<0.05) as well as systolic endocardial velocities (p<0.01) improved versus the placebo group. CmDiI and skeletal myosin heavy chain expression was detected in all animals at 2 months after implantation confirming engraftment of skeletal muscle cells. CONCLUSIONS: In conclusion, our data indicate that non-cultured muscle cell transplantation is feasible and may translate into a functional benefit in an ovine model of dilated heart failure. 相似文献
6.
After resection at birth of an accessory left foot, a white male infant was followed up for a slowly enlarging posterior calf mass of the same leg. When the patient was 8 years old, the mass was thought to have enlarged sufficiently to warrant excisional biopsy. Histologic examination of the tumor was consistent with the diagnosis of a dermoid cyst, revealing a lesion lined with stratified squamous epithelium and containing cutaneous adnexal structures represented by eccrine sweat glands. A congenital dermoid in the extremities is unusual. The prognosis following removal is good, and recurrence is rare. 相似文献
7.
Maxillary sinusitis in adults: an evaluation of placebo-controlled double-blind trials 总被引:1,自引:0,他引:1
BACKGROUND: In general practice, acute sinusitis is frequently diagnosed
and treated with antibiotics. OBJECTIVE: This study aimed to determine the
evidence for the effectiveness of antibiotic treatment in acute maxillary
sinusitis in adults by assessing the methodological quality of
placebo-controlled double-blind randomized trials. METHOD: An evaluation by
four raters through a 35-item scoring-scale for internal and external
validity of all placebo-controlled double-blind randomized trials on acute
sinusitis found between January 1966 and July 1996. RESULTS: Eighty-five
trials were excluded because they were not placebo-controlled,
double-blind, randomized, or were carried out in patients with chronic
sinusitis or in children. The three remaining trials were performed in
different populations (one in general practice) between 1973 and 1978. Only
one study claimed superiority of antibiotic treatment. Different inclusion
criteria and major outcome measures were used by the authors. The
reliability of major outcome events was reported poorly or not at all and
in two studies outcome measures were clinically inappropriate. The studies
scored 30-62% of the maximum attainable score for internal validity and
10-20% for external validity. CONCLUSION: The effectiveness of antibiotic
treatment in acute maxillary sinusitis in a general practice population is
not based sufficiently on evidence.
相似文献
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H Angus-Leppan GA Lambert J Michalicek 《Cephalalgia : an international journal of headache》1997,17(6):625-630
Co-existence of facial and occipital pain may occur in occipital neuralgia, migraine and cluster headache; suggesting convergence of trigeminal and cervical afferents. Such convergence has been shown in humans and other animals, but the site and extent of this are uncertain. In anaesthetized adult cats, the superior sagittal sinus and occipital nerve were stimulated electrically, and extracellular recordings made in the dorsolateral area of the upper cervical cord using glass-coated tungsten electrodes. Of 49 units in 10 cats, 33 (67%) had input from the superior sagittal sinus and the occipital nerve. Thirteen (27%) had superior sagittal sinus input and 3 (6%) had occipital nerve input. Convergent receptive fields were identified mechanically in 7 units. These experiments in cats show convergent input from occipital nerve and superior sagittal sinus on dorsolateral area units in two-thirds of cases studied. This experimental site of trigeminocervical convergence may relate to referral of pain in occipital neuralgia and other headaches. 相似文献