Emerging impact of CTA/perfusion CT on acute stroke thrombolysis in a community hospital.

Our objective was to retrospectively review the emerging role of CT, CTA, and perfusion CT (pCT) in the hyperacute stroke population of a community hospital. We reviewed 50 consecutive patients' records and imaging studies, who were treated with thrombolytic therapy within 6 h of symptom onset. Multidetector CT, CTA, and pCT studies were evaluated. Subsequent CT, magnetic resonance, or angiographic studies when available were correlated. Patients' clinical data at admission and outcomes at discharge were evaluated. Complications were tabulated. Of the 50 patients treated with thrombolytics, 37 had CT/CTA/pCT, the others non-contrast CT only. CT blood volume defect was present in a total of 14 patients, presaging permanent infarct in all. Arterial clot was seen in 28/37 CTAs (carotid "T" 6, MCA 16, vertebrobasilar 6). Viable penumbra was shown in 20/37; rescued penumbra was depicted after treatment in 14. 39 patients were treated with intravenous, nine with intra-arterial, two with both forms of thrombolysis. Modified Rankin score showed clinical improvement in 58%, three patients had complete recovery. Subsequent bleed was shown in two (4%), symptomatic in one (2%). Two patients died. Our experience suggests advanced CT is more sensitive to ischemia than routine CT, that salvageable penumbra can be identified, and that triage of patients with acute stroke for thrombolysis with CT/CTA/pCT is more robust than routine CT alone, and may improve outcomes in the community hospital setting.

Clinical characteristics of patients with unicoronal synostosis and mutations of fibroblast growth factor receptor 3: a preliminary report.

Clinical teaching dictates that isolated unicoronal synostosis is sporadic in occurrence and is possibly related to intrauterine constraint. Despite this, isolated reports document a familial occurrence. It has previously been recognized that there may be a familial pattern of inheritance. Recently, mutations in fibroblast growth factor receptors (FGFRs) have been implicated in several syndromic craniosynostoses. At the authors' institution, mutations in FGFR3, located at chromosome 4p16, have been found to cause coronal synostosis. Two cases of unicoronal synostosis were found to have the same Pro250Arg missense mutation in FGFR3. This finding suggested that all patients with a diagnosis of unicoronal synostosis be screened for the FGFR3 mutation. Between January and December of 1996, patients with a diagnosis of plagiocephaly at the Children's Hospital of Philadelphia were evaluated for the FGFR3 mutation. Thirty-seven patients with unicoronal synostosis had mutational studies. Two additional patients were known to have the FGFR3 mutation at the onset of the study. Of the 37 patients screened, four were found to have the FGFR3 mutation, for a total of six patients with both unicoronal synostosis and the FGFR3 mutation. All patients with unicoronal synostosis were evaluated for facial dysmorphology and operative outcome. The six patients with the FGFR3 mutation had more severe cranial dysmorphology and were more likely to need surgical revision than those without the FGFR3 mutation. The occurrence of the FGFR3 mutation among patients with unicoronal synostosis provides evidence for a genetic basis of certain forms of plagiocephaly. The clinical, radiologic, and molecular findings will be an important addition to the surgical management and counseling of patients with unicoronal synostosis.

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.

The term Baller-Gerold syndrome was coined by Cohen [1979: Birth Defects 15(5B): 13-63] to designate the phenotype of craniosynostosis and radial aplasia. It is thought to be a rare autosomal recessive condition, which, in some patients, presents with additional abnormalities, such as polymicrogyria, mental retardation or anal atresia. A phenotypic overlap of Baller-Gerold and Roberts-SC phocomelia syndrome was noted when a patient with bicoronal synostosis and bilateral radial hypoplasia was found to have premature centromere separation, a finding characteristic of Roberts syndrome [Huson et al.,1990: J Med Genet 27:371-375]. Other cases of presumed Baller-Gerold syndrome were rediagnosed as Fanconi pancytopenia, Rothmund-Thomson syndrome or VACTERL association. These reports led to a narrowed redefinition of Baller-Gerold syndrome based on the exclusion of cytogenetic and hematopoetic abnormalities and the absence of additional malformations in patients with craniosynostosis and preaxial upper limb abnormalities. Here we report on a patient with unilateral radial aplasia and bicoronal synostosis without additional malformations and without chromosome breakage, who fits this narrow definition of Baller-Gerold syndrome. We identified a novel TWIST gene mutation in this patient, a Glu181Stop mutation predicting a premature termination of the protein carboxy-terminal to the helix 2 domain. This report provides further evidence that Baller-Gerold is of heterogeneous cause, and a thorough evaluation is indicated to identify a possibly more specific diagnosis, including Saethre-Chotzen syndrome. This differential diagnosis is of particular importance, as it is an autosomal dominant trait. Therefore, the recurrence risk for parents of an affected child can be 50% if one parent carries the mutation, as opposed to the 25% recurrence risk for autosomal recessive inheritance. Offspring of the affected patient also have a 50% risk to inherit the mutation, while the risk to bear an affected offspring for an autosomal recessive trait is very low.

Analysis and treatment of severe trigonocephaly.

A retrospective analysis of seven patients with clinically severe trigonocephaly was performed, including a review of preoperative and postoperative computed tomography scans. A method of analyzing the trigonocephalic deformity was developed. This is based on determination of the angular severity of the forehead (110 +/- 4 degrees) and the length of half of the supraorbital bar (40 +/- 3 mm). This central angle was found to be relatively constant in this population. Using simple trigonometric relationships, a rationale for the alternative method of reconstruction used in these patients is presented. This technique is based on transverse expansion of the supraorbital bar, transposition of the lateral orbital rim, expansion of the temporal fossa, and recontouring the orbital aperture. As a separate consideration and step, the bony interorbital distance is widened.

Adult psychological functioning of individuals born with craniofacial anomalies.

This study represents an initial investigation into the adult psychological functioning of individuals born with craniofacial disfigurement. A total of 24 men and women born with a craniofacial anomaly completed paper and pencil measures of body image dissatisfaction, self-esteem, quality of life, and experiences of discrimination. An age- and gender-matched control group of 24 non-facially disfigured adults also completed the measures. As expected, craniofacially disfigured adults reported greater dissatisfaction with their facial appearance than did the control group. Craniofacially disfigured adults also reported significantly lower levels of self-esteem and quality of life. Dissatisfaction with facial appearance, self-esteem, and quality of life were related to self-ratings of physical attractiveness. More than one-third of craniofacially disfigured adults (38 percent) reported experiences of discrimination in employment or social settings. Among disfigured adults, psychological functioning was not related to number of surgeries, although the degree of residual facial deformity was related to increased dissatisfaction with facial appearance and greater experiences of discrimination. Results suggest that adults who were born with craniofacial disfigurement, as compared with non-facially disfigured adults, experience greater dissatisfaction with facial appearance and lower self-esteem and quality of life; however, these experiences do not seem to be universal.

A usability evaluation for telemedicine medical equipment.

This paper describes a conceptual framework and human factors evaluation for usability assessment of commercially available telemedicine technology. Four criteria of human factors evaluation are utilized: (1) technical acceptability; (2) operational effectiveness; (3) clinical appropriateness; and (4) equipment selection. These criteria were applied to commercially available video-otoscope systems for otological evaluations.

Brain abscess as a complication of orthognathic surgery: diagnosis, management, and pathophysiology.

We present what we believe is the first case of a brain abscess resulting from orthognathic surgery reported in the literature. Although recent advances have significantly improved the treatment of brain abscesses, delays in diagnosis lead to persistent high rates of mortality. Often, the initial symptoms are vague and nonspecific. Commonly, the neurologic status of the patient deteriorates significantly before suspicion is raised and a CT scan is obtained. This case report is intended to benefit all practitioners who participate in the perioperative care of orthognathic surgery patients. Although the occurrence of a brain abscess is rare, it is hoped that this case will heighten the awareness of clinicians to this potential complication.

Bigger is not always better: body image dissatisfaction in breast reduction and breast augmentation patients.

This study investigated body image dissatisfaction in breast reduction and breast augmentation patients. Thirty breast reduction and 30 breast augmentation patients completed two body image measures preoperatively. Breast reduction patients reported greater dissatisfaction with their overall body image as compared with breast augmentation patients, part of which can be understood as a function of their increased body weight. When asked specifically about their breasts, reduction patients displayed increased body image dysphoria and maladaptive behavioral change, including embarrassment about their breasts in public areas and social settings and avoidance of physical activity. Results are discussed in the context of ideal body weight cutoffs by third-party payers for reimbursement for breast reduction. Recommendations for reimbursement criteria that de-emphasize the role of body weight are made.

Body image dissatisfaction in male cosmetic surgery patients.

This study was the first empirical investigation of body image dissatisfaction in male cosmetic surgery patients. Thirty men completed two body image measures prior to their initial consultation. Results were compared to the norms for each of the measures and with a sample of 30 women seeking similar cosmetic procedures. Results indicated that patients did not demonstrate greater dissatisfaction with their overall appearance than men in a normative sample. However, when asked about the bodily feature they were considering for surgery, they reported significantly greater levels of dissatisfaction than the normative sample. As compared to male patients, female patients reported a greater investment in their physical appearance. Implications of these findings are discussed with respect to the nature of body image dissatisfaction and the relevance of body image in the psychology of male plastic surgery patients.

Body image dissatisfaction and body dysmorphic disorder in 100 cosmetic surgery patients.

This study was the first empirical investigation of body image dissatisfaction and body dysmorphic disorder in cosmetic surgery patients. Of 132 women, 100 women (response rate, 76 percent) completed two body image measures prior to surgery, the Multidimensional Body-Self Relations Questionnaire and the Body Dysmorphic Disorder Examination Self-Report. Cosmetic surgery patients did not demonstrate greater dissatisfaction with their overall appearance compared with the reported normal values of the measures. However, when asked about the specific bodily feature they were considering for cosmetic surgery, they reported significantly greater dissatisfaction than a normative sample. In addition, 7 percent of the sample met diagnostic criteria for body dysmorphic disorder, a potential psychiatric contraindication to cosmetic surgery. Implications of these findings are discussed with respect to the nature of body image dissatisfaction and the prevalence of body dysmorphic disorder in cosmetic surgery populations.

Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.

To determine whether the autosomal dominant fibroblast growth factor receptor 3 (FGFR3) Pro250Arg mutation causes anterior plagiocephaly, patients with either apparently sporadic unicoronal synostosis (N = 37) or other forms of anterior plagiocephaly (N = 10) were studied for this mutation. Of 37 patients with unicoronal synostosis, 4 tested positive for the Pro250Arg mutation in FGFR3, and 33 were negative for this mutation. In three mutation positive patients with full parental studies, a parent with an extremely mild phenotype was found to carry the same mutation. None of the 6 patients with nonsynostotic plagiocephaly and none of the 4 patients with additional suture synostosis had the FGFR3 mutation. Because it is impossible to predict the FGFR3 Pro250Arg mutation status based on clinical examination alone, all patients with unicoronal synostosis should be tested for it. To assess their recurrence risk, all parents of mutation positive patients should be tested regardless of their clinical findings, because the phenotype can be extremely variable and without craniosynostosis.

Body image concerns of reconstructive surgery patients: an underrecognized problem.

This study assessed the body image concerns of reconstructive plastic surgery patients. Forty-three reconstructive surgery patients completed two measures of body image. Responses were compared with a group of patients seeking cosmetic procedures. The two groups did not differ in the degree of dissatisfaction with their overall appearance or dissatisfaction with the specific feature for which they were seeking surgery. Reconstructive patients did consider themselves less healthy and less invested in their appearance than did cosmetic patients. Seven of the reconstructive surgery patients (all scar revision patients) reported a level of dissatisfaction and preoccupation consistent with the psychiatric diagnostic of body dysmorphic disorder. These results underscore the importance of screening for body image dissatisfaction in persons with an objective deformity. Plastic surgeons are in an optimal position to identify body image concerns in these patients and provide appropriate referrals for psychotherapy.

Psychological investigations in cosmetic surgery: a look back and a look ahead.

This article reviews the history of psychological investigations of cosmetic surgery patients. These studies have been designed to address two fundamental questions: (1) Are there "patient types" or forms of psychopathology that serve as contraindications to cosmetic surgery? and (2) What is the likelihood of psychological change following cosmetic surgery? This review suggests that the research has not fully answered these questions. In response, we propose a new direction for psychological investigation, focusing on issues of body image in cosmetic surgery patients. We discuss the relationship between body image and cosmetic surgery and pose several relevant questions for future research.

The psychology of cosmetic surgery: a review and reconceptualization.

This article discusses the psychology of cosmetic surgery. A review of the research on the psychological characteristics of individuals who seek cosmetic surgery yielded contradictory findings. Interview-based investigations revealed high levels of psychopathology in cosmetic surgery patients, whereas studies that used standardized measurements reported far less disturbance. It is difficult to fully resolve the discrepancy between these two sets of findings. We believe that investigating the construct of body image in cosmetic surgery patients will yield more useful findings. Thus, we propose a model of the relationship between body image dissatisfaction and cosmetic surgery and outline a research agenda based upon the model. Such research will generate information that is useful to the medical and mental health communities and, ultimately, the patients themselves.

Avoiding pitfalls and managing complications of aesthetic contouring of the craniofacial skeleton.

Contouring of the facial skeleton has become applicable to a wide spectrum of patients. Although complications do occur, they now can be managed in a safe and predictable fashion. Moreover, it has been our experience that through increased use and attention to the tenets described in this article, the incidence of postoperative complications is significantly reduced.

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

The underlying basis of many forms of syndromic craniosynostosis has been defined on a molecular level. However, many patients with familial or sporadic craniosynostosis do not have the classical findings of those craniosynostosis syndromes. Here we present 61 individuals from 20 unrelated families where coronal synostosis is due to an amino acid substitution (Pro250Arg) that results from a single point mutation in the fibroblast growth factor receptor 3 gene on chromosome 4p. In this instance, a new clinical syndrome is being defined on the basis of the molecular finding. In addition to the skull findings, some patients had abnormalities on radiographs of hands and feet, including thimble-like middle phalanges, coned epiphyses, and carpal and tarsal fusions. Brachydactyly was seen in some cases; none had clinically significant syndactyly or deviation of the great toe. Sensorineural hearing loss was present in some, and developmental delay was seen in a minority. While the radiological findings of hands and feet can be very helpful in diagnosing this syndrome, it is not in all cases clearly distinguishable on a clinical basis from other craniosynostosis syndromes. Therefore, this mutation should be tested for in patients with coronal synostosis.

Body image dissatisfaction in women seeking rhytidectomy or blepharoplasty.

Ninety-seven women seeking rhytidectomy, blepharoplasty, or both completed two measurements of body image prior to their initial consultation. Results were compared with the normal scores for each of the measurements and with a sample of 32 women seeking rhinoplasty. Results indicated that women seeking rhytidectomy, blepharoplasty, or both to improve aging facial features reported a greater investment in and satisfaction with their overall appearance than women in a normattive sample. As was consistent with the findings of previous investigations, when asked about the specific body feature for which they were considering surgery, patients who wished to improve the appearance of aging facial features reported significantly greater dissatisfaction with their appearance feature than the normative sample but significantly less dissatisfaction than patients undergoing rhinoplasty. Patients wishing to improve the appearance of aging facial features seem to present for cosmetic surgery with different body image concerns than patients undergoing other types of cosmetic surgery.

The role of microfixation in malar fractures: a quantitative biophysical study.

Microfixation and wire fixation techniques were used in combination with miniplates in the stabilization of simulated simple zygoma fractures in four fresh human cadaver heads. An orthogonal conveyer and rigid steel test frame were used to test rotational stability after deforming forces were applied. After testing multiple combinations at an initial deforming force of 5 kg, selected combinations were tested over a range of 2 to 22 kg. Evaluation of force-displacement data revealed that three-point fixation with miniplates was superior to all other methods, in agreement with previous studies. The combination of lateral buttress miniplate fixation in conjunction with microfixation at the zygomaticofrontal and infraorbital rim regions exhibited stable characteristics over the range of forces applied. Miniplate-microplate combinations exhibited greater stability than corresponding miniplate-wire combinations. The combination of miniplate-microplate fixation clinically allows a balance between stability and aesthetics in selected zygoma fractures.

An experimental study of the effects of craniofacial growth on the long-term positional stability of microfixation.

Recent clinical reports have documented a potential problem associated with the use of microfixation in the growing craniofacial skeleton, i.e., the finding of microplates and microscrews within the endocranial cavity during repeat surgery. This animal experiment using Yorkshire pigs was designed to determine if this type of passive internal displacement could be demonstrated in an animal model, the frequency of internal displacement, and the potential consequence of such events from a neurohistological standpoint. Ten female Yorkshire piglets underwent left unilateral fronto-orbital advancement at age 3 weeks, fixation being achieved with microplates and screws. The position of the hardware was determined by direct inspection, after they were killed at 6 months of age (skeletal maturity). Ten microplates (28%) showed complete intracranial translocation, whereas nine (27%) remained on the ectocranial surface. The majority, 16 (44%), were between the outer and inner cortices of the calvaria. Gross examination of the brain tissue underlying the translocated hardware showed indentation "pits" forming as a result of such translocation. Histological examination of the cerebrum and meninges of these pits revealed loss of the most superficial connecting cell layer, with focal neuronal distortion. The leptomeninges were intact and there was no cerebritis, gliosis, or hypoxic change. These findings confirm that in this pig model microfixation hardware will undergo passive intracranial ranial translocation and that there are demonstrable histological alterations in the underlying brain and meninges. The long-term effects of these observed anatomical changes are unknown.

Frontonasal malformation and cloacal exstrophy: a previously unreported association.

We report on a child with frontonasal malformation (FNM) and cloacal exstrophy, a combination of findings that have not been reported previously. In FNM and cloacal exstrophy, associated malformations are rare. FNM and cloacal exstrophy both represent abnormalities of the development of the midline field; this combination of anomalies in this patient suggests an impairment of caudal and cranial midline development during blastogenesis.