Neurofibromatosis Case Report

Neurofibromatosis Case Report Abstract Neurofibromatosis, though not discussed in depth, is not at all a clinical rarity. The condition has been reported in all races and does not exhibit specific clinical manifestations and features for occurrence. The hereditary nature has been recognized for long, though the depth of mutations is still a long way in short of understanding. It has got a chance occurrence of 50% mutation rate. It occurs with a frequency of 1 case in approximately 3000 births. Malignant transformation has been reported in a few cases, which underlines the importance of in depth analysis of this condition. Introduction Neurofibromatosis is one of the most common hereditary neurocutaneous disorders with an incidence of 1:3000. It is autosomal dominant and shows no race or sex predilection.1 30 to 50% are de-novo cases occurring due to spontaneous mutations.2The condition first documented in 1882 by the German pathologist Frederich Von Recklinghausen presents with protean clinical manifestations.3This case is reported due to the severe facial hemi hypertrophy associated with neurofibromatosis. Case Report A 12 year old female patient presented with swelling of left side of face since infancy. Swelling was first noted at one year of age after which it increased steadily and reached the present size. Speech was slurred. No family history of such a condition was observed. On extra oral examination severe hemi hypertrophy of the maxilla was noted with subsequent disfigurement of the face on account of deviation of the nose and mouth to the right (Fig 1). There was a soft painless mass on the left forehead measuring four centimeters in length and two centimeters in breadth. There was overgrowth of coarse, stiff hair on the mass. The skin showed patchy pigmentation. Left eye is pushed downwards and remained closed due to the pressure exerted by the mass (Fig 23). On palpation the mass was soft to firm with diffuse borders. No fixity to underlying tissue was noted. There was no associated regional lymphadenopathy. Cafà © au lait spots (CALS) of size one to two centimeters and blue black in color were distributed over the trunk and palms of hands (Fig 4). There was a large CALS of size 10 X 15 centimeters in the back of trunk which was irregular with diffuse borders (Fig 5). Intraoral examination showed a firm mass extending from right maxillary lateral incisor to left maxillary first premolar. The mass measured 3 X 2 centimeters in size and was firm and non – tender on palpation. Maxillary left central incisor was found embedded and the lateral incisor and canine were partially exposed. CALS were noted on the mass. Nodular masses were seen on the palate adjacent to right maxillary premolars, on the mass adjacent to right central incisor and on the left upper lip. There was hemi hypertrophy of the tongue and spacing of teeth on the left side resulting in malocclusion (Fig 6). CT scan shows the lesion extended well in to the brain- cerebrum, frontal sinus, and eye, nasal and maxillary sinus (Fig 7). Preliminary hematological investigations including serum calcium and alkaline phosphatase were carried out and values were found within normal limits. Incisional biopsy was performed from the anterior palate. Histopathological examination of H E stained sections showed cells with elongated, bent nuclei separated by abundant, fine and sinuous collagen fibers. There is presence of nerve bundles, mild vascularity and areas of hemorrhage. Overlying epithelium is orthokeratinized stratified squamous epithelium of normal thickness (Fig 89). Diagnosis of neurofibroma was made. Patient was referred to the department of oral surgery for further treatment. Discussion Present knowledge shows that neurofibromatosis consists of at least two diseases which show distinct clinical and genetic features, the peripheral form or neurofibromatosis 1 (NF1) and the central form or neurofibromatosis 2 (NF2). The more common one is the NF1. 4 This is autosomal dominant and 50% of cases are new mutations, 80% of which are of paternal origin. The NF1 gene, one of the largest in the human genome is a tumor suppressor gene located in the pericentromeric region of chromosome 17. It encodes the neurofibromin protein which consists of 2800 amino acids. Due to the large size of the gene and numerous mutations that may occur genetic testing is not a viable option in diagnosis. A protein truncation assay is used to detect stop mutations but this confirms the disease only in two thirds of cases and cannot predict the severity. 5,6 Diagnosis is confirmed if two or more of the diagnostic criteria are present. (Table 1) Hence clinical findings are imperative. Accurate correlations between the genotype and phenotype have not been possible because of the large size of the gene. Still it has been found that the severity of the condition increases with complete gene deletions with occurrence of large numbers of neurofibromas and a significantly higher lifetime risk for malignant peripheral nerve sheath tumors. Familial spinal neurofibromatosis corresponds with mutations at the 3’ end of the gene. Somatic mosaicism may account for the segmental forms of neurofibromatosis.5 The clinical manifestations are first seen in childhood as small macules resembling freckles which slowly increase in size and deepen in color. Microscopically melanin pigment is seen in macromelanosomes. The number of cafà © au lait spots indicates the severity of the disease. In mild forms with fewer spots the neurofibromas occur late in life and may also be restricted to one part of the body. Secondary symptoms may arise due to occurrence of neurofibromas. An abrupt increase in size may indicate malignancy or may be due to pregnancy or onset of puberty.7The central nervous system may be affected with neurofibromas example the optic nerve glioma.8 The skeleton may be affected due to primary defects and also pressure effect from the tumors. Cystic lesions are noted within the bones histologically resembling non-ossifying fibroma.9 Renovascular hypertension occurs due to vascular stenosis. The varied symptoms of neurofibroma include growth disorders, abnormal sexual development and lung abnormalities. Certain forms of neurofibroma shows atypical or incomplete features compared to the classic form. These variants are segmental neurofibroma, gastrointestinal neurofibroma, familial spinal neurofibroma and familial cafà © au lait spots.8 Neurofibroma is a disease with diverse characteristics. Early diagnosis aids in proper monitoring of patient. Genetic counseling is also required in familial cases. Frequent reviews are needed as there is possibility of development of malignant peripheral nerve sheath tumor (MPNST) in a subset of NF1. Proper histologic evaluation is essential as it is difficult to differentiate a neurofibroma with atypical histologic features from a low grade MPNST. Germ-line mutations in genes encoding RAS-ERK signaling pathway components cause a set of related, autosomal dominant developmental disorders, termed â€Å"RASopathies† , which include Noonan syndrome . Noonan syndrome with multiple lentigenes (NS-ML; formerly known as LEOPARD syndrome), cardio-facio-cutaneous syndrome (CFCS), Costello syndrome (CS), and neurofibromatosis type 1 (NF-1). RASopathy patients typically display short stature, facial dysmorphia, cardiac defects, developmental delay, and other variably penetrant features. 10 Conclusion Neurofibormatosis and concomitant symptoms are always associated with numerous manifestations. The condition including von Recklinghausen disease has to be understood in depth for proper diagnostic criteria and treatment protocols. Though, significant steps has been taken for analyzing the molecular pathway and genetic mutations involving the conditions, the finer details are still out of light as far as molecular origin and pathway is concerned. An extensive discussion and deliberation is needed in this regard so that debility and mortality rate

Introduction to Special Education Essay

* students with exceptionalities exhibit differences in learning and behaviour that significantly affect their educational potential – they have exceptional needs that cannot be met by typical approaches to schooling * special education is constructed and delivered to suit the specific strengths and needs of students with exceptionalities The Modern History Of Special Education. * special types of educational services provided as far back as the 18th century * modern era of special education began in the 1960s during the civil rights movement (rejected existing practices of separately educating students who were different) * early forms of special education designed to reduce perceived threats to normal students History Of Special Education (Legislation Affecting Special Education) * some Canadian provinces enacted special education legislation as early as 1969 * 1975 – ground breaking legislation in U. S.  Education for All Handicapped Children Act. * least restrictive environment * individualized education program (IEP) * categories of exceptionality * 1978 – Javits Gifted & Talented Students Act brought number of identifiable categories to eleven * 1990 – Individuals with Disabilities Education Act (IDEA) added traumatic brain injury and autism to create the thirteen categories used today * IDEA – â€Å"children with disabilities† instead of â€Å"disabled children† The No Child Left Behind Act: signed into law in 2002 * addresses four critical concerns. * accountability of educators for student academic achievement * flexibility of specialized funding implementation to maximize student achievement * option for parents to change child’s school if achievement is not at expected level * use of scientifically proven methods to have all children reading by end of grade three Is NCLB Making a Difference? Criticisms: * students with exceptionalities not exempt from district-wide or state-wide yearly achievement tests (law recently changed – flexibility option) * lack of available funding. * more emphasis placed on math and reading at the expense of other curricular topics To date, NCLB legislation has not significantly affected special education practices in Canada. How Is Special Education In Canada And The United States Similar? * basic practices follow the same conceptual models * major difference is way it is governed * U. S. operates under federally-mandated laws * each Canadian province and territory has own education legislation * most relevant federal law in Canada is Canadian Charter of Rights and Freedoms Prevalence Of Students With Exceptionalities * vast majority of classrooms now include students with exceptionalities * statistics difficult to acquire in Canada * U. S. Department of Education (2002) * 8. 8% of all students have exceptionalities * 85% of these have mild disabilities * twice as many males as females Inclusionary Practices * until the mid 1980s, special education services delivered wholly or partially separated from regular classrooms * all Canadian provinces have currently adopted philosophy of inclusion. * students with exceptionalities are provided with appropriate educational programming in  appropriate environments * regular classroom is first placement option * Inclusionary Practices * inclusion better than integration or mainstreaming because it does not try to â€Å"fix the child† to suit the system * inclusion does not replace the term special education because it does not provide specific definitions for implementation * educators support inclusion but are concerned about its lack of procedures for implementation Non-Categorical Model. * data-based approach to instructional planning * does not rely on specific labels * proponents feel that labels frequently stigmatize, isolate, and stereotype individuals with exceptionalities * more concerned with functional educational services than outcomes of assessments Categorical Model * students’ needs and abilities are defined and then identified, classified, and categorized * most widely used and accepted approach. * allows educators to design effective educational interventions without over-generalizing the characteristics of specific categories to any one child * textbook emphasizes categorical model * teachers need to know the criteria used to identify students with exceptionalities and how the criteria varies across categories * allows teachers to readily notice problems that children may be having * eliminates confusion and frustration when teaching students with exceptionalities.

Effects of Wolf Predation

This paper discusses four hypotheses to explain the effects of wolf predation on prey populations of large ungulates. The four proposed hypotheses examined are the predation limiting hypothesis, the predation regulating hypothesis, the predator pit hypothesis, and the stable limit cycle hypothesis. There is much research literature that discusses how these hypotheses can be used to interpret various data sets obtained from field studies. It was concluded that the predation limiting hypothesis fit most study cases, but that more research is necessary to account for multiple predator – multiple prey The effects of predation can have an enormous impact on the ecological organization and structure of communities. The processes of predation affect virtually every species to some degree or another. Predation can be defined as when members of one species eat (and/or kill) those of another species. The specific type of predation between wolves and large ungulates involves carnivores preying on herbivores. Predation can have many possible effects on the interrelations of populations. To draw any correlations between the effects of these predator-prey interactions requires studies of a long duration, and tatistical analysis of large data sets representative of the populations as a whole. Predation could limit the prey distribution and decrease abundance. Such limitation may be desirable in the case of pest species, or undesirable to some individuals as with game animals or endangered species. Predation may also act as a major selective force. The effects of predator prey coevolution can explain many evolutionary adaptations in both predator and prey species. The effects of wolf predation on species of large ungulates have proven to be controversial and elusive. There have been many different odels proposed to describe the processes operating on populations influenced by wolf predation. Some of the proposed mechanisms include the predation limiting hypothesis, the predation regulating hypothesis, the predator pit hypothesis, and the stable limit cycle hypothesis (Boutin 1992). The purpose of this paper is to assess the empirical data on population dynamics and attempt to determine if one of the four hypotheses is a better model of the effects of wolf predation on ungulate population densities. The predation limiting hypothesis proposes that predation is the primary factor that limits prey density. In this non- equilibrium model recurrent fluctuations occur in the prey population. This implies that the prey population does not return to some particular equilibrium after deviation. The predation limiting hypothesis involves a density independent mechanism. The mechanism might apply to one prey – one predator systems (Boutin 1992). This hypothesis predicts that losses of prey due to predation will be large enough to Many studies support the hypothesis that predation limits prey density. Bergerud et al. (1983) concluded from their study of the interrelations of wolves and moose in the Pukaskwa National Park that olf predation limited, and may have caused a decline in, the moose population, and that if wolves were eliminated, the moose population would increase until limited by some other regulatory factor, such as food availability. However, they go on to point out that this upper limit will not be sustainable, but will eventually lead to resource depletion and population decline. Seip (1992) found that high wolf predation on caribou in the Quesnel Lake area resulted in a decline in the population, while low wolf predation in the Wells Gray Provincial Park resulted in a slowly increasing population. Wolf predation at the Quesnel Lake area remained high despite a fifty percent decline in the caribou population, indicating that mortality due to predation was not density-dependent within this range of population densities. Dale et al. (1994), in their study of wolves and caribou in Gates National Park and Preserve, showed that wolf predation can be an important limiting factor at low caribou population densities, and may have an anti-regulatory effect. They also state that wolf predation may affect the distribution and abundance of caribou populations. Bergerud and Ballard (1988), in their interpretation of the Nelchina caribou herd case history, said that during and immediately following a reduction in the wolf population, calf recruitment increased, which should result in a future caribou population increase. Gasaway et al. (1983) also indicated that wolf predation can sufficiently increase the rate of mortality in a prey population to prevent the population's increase. Even though there has been much support of this hypothesis, Boutin (1992) suggests that â€Å"there is little doubt that predation is a limiting factor, but in cases where its magnitude has been measured, t is no greater than other factors such as hunting. † A second hypothesis about the effects of wolf predation is the predation regulating hypothesis, which proposes that predation regulates prey densities around a low-density equilibrium. This hypothesis fits an equilibrium model, and assumes that following deviation, prey populations return to their pre-existing equilibrium levels. This predator regulating hypothesis proposes that predation is a density-dependent mechanism affecting low to intermediate prey densities, and a density-independent mechanism at high prey densities. Some research supports predation as a regulating mechanism. Messier (1985), in a study of moose near Quebec, Canada, draws the conclusion that wolf-ungulate systems, if regulated naturally, stabilize at low prey and low predator population densities. In Messier's (1994) later analysis, based on twenty-seven studies where moose were the dominant prey species of wolves, he determined that wolf predation can be density-dependent at the lower range of moose densities. This result demonstrates that predation is capable of regulating ungulate populations. Even so, according to Boutin (1992) ore studies are necessary, particularly at high moose densities, to determine if predation is regulatory. A third proposal to model the effects of wolf predation on prey populations is the predator pit hypothesis. This hypothesis is a multiple equilibria model. It proposes that predation regulates prey densities around a low-density equilibrium. The prey population can then escape this regulation once prey densities pass a certain threshold. Once this takes place, the population reaches an upper equilibrium. At this upper equilibrium, the prey population densities re regulated by competition for (and or availability of) food. This predator pit hypothesis assumes that predator losses are density-dependent at low prey densities, but inversely density-dependent at high prey densities. Van Ballenberghe (1985) states that wolf population regulation is needed when a caribou herd population declines and becomes trapped in a predator pit, wherein predators are able to prevent caribou populations from increasing. The final model that attempts to describe the effects of predation on prey populations is the stable limit cycle hypothesis. This hypothesis proposes that vulnerability of prey to predation depends on past environmental conditions. According to this theory, individuals of a prey population born under unfavorable conditions are more vulnerable to predation throughout their adult lives than those born under favorable conditions. This model would produce time lags between the proliferation of the predator and the prey populations, in effect generating recurring cycles. Boutin (1992) states that if this hypothesis is correct, the effects of food availability (or the lack of) should be more subtle than outright starvation. Relatively severe inters could have long- term effects by altering growth, production, and vulnerability. Thompson and Peterson (1988) reported that there are no documented cases of wolf predation imposing a long-term limit on ungulate populations independent of environmental influences. They also point out that summer moose calf mortality was high whether predators were present or not, and that snow conditions during the winter affected the vulnerability of calves to predation. Messier (1994) asserts that snow accumulation during consecutive winters does not create a cumulative impact on the nutritional status of deer and All of the four proposed theories mentioned above could describe the interrelationships between the predation of wolves and their usual north american prey of large ungulate species. There has been ample evidence presented in the primary research literature to support any one of the four potential models. The predation limiting hypothesis seems to enjoy wide popular support, and seems to most accurately describe most of the trends observed in predator-prey populations. Most researchers seem to think that more specific studies need to be conducted to find an ideal model of the effects of predation. Bergerud and Ballard (1988) stated â€Å"A simple numbers argument regarding prey:predator ratios overlooks the complexities in multi-predator-prey systems that can involve surplus killing, additive predation between predators, enhancement and interference between predator species, switch over between prey species, and a three-fold variation in food consumption rates by wolves. † Dale et al. (1994) stated that further knowledge of the factors affecting prey switching, such as density-dependent changes in vulnerability within and between prey species, and further knowledge of wolf population response is needed o draw any firm conclusions. Boutin (1992) also proposed that the full impact of predation has seldom been measured because researchers have concentrated on measuring losses of prey to wolves only. Recently, bear predation on moose calves has been found to be substantial, but there are few studies which examine this phenomenon (Boutin 1992). Messier (1994) also pointed out that grizzly and black bears may be important predators of moose calves during the summer. Seip (1992), too, states that bear predation was a significant cause of adult caribou mortality.

Alienation - Essay - 1188 Words

Alienation Alienation is defined as; isolation from a group or an activity to which one should belong or in which one should be involved, but the definition can change depending on a person’s experience. Alienation can come across in many different feeling’s such as powerlessness – helpless and ineffectual, meaninglessness – having no significance, normlessness – lack of social norms, cultural estrangement and social isolation. In the three chosen texts; â€Å"Enter Without So Much As Knocking† by Bruce Dawe, â€Å"Capitalism and Alienation† by Danielle Pioli and â€Å" Be My Brother† by Geneueve Clay, alienation is forced upon the characters by external forces. In the poem â€Å"Enter Without So Much As Knocking† by Bruce Dawe, the alienation†¦show more content†¦In contrast to the pig the worker’s clothes are painted dirty and unclear brush work has been used. This brings a sense of self-estrangement to the picture, as the worker doesn’t care about his work otherwise the clothes will be clean. â€Å"Capitalism and Alienation† by Danielle Pioli is much like â€Å"Enter Without So Much As Knocking† by Bruce Dawe. They both show that alienation is caused by external forces and both shows that these types of alienation, powerlessness and meaninglessness are mainly caused by society how it values money. The third text is a short film called â€Å"Be My Brother† by Geneueve Clay. The alienation present in this film, like the other texts, is caused by external forces. In contrast to the two texts, the film show the cause of this alienation is a stereotypical point of view towards the main character Richard. This causes Richard to be socially alienated throughout the film. There are also signs of cultural estrangement and family alienation. In the establishing shot, alienation is created through the main character Richard. This is shown through the many camera techniques, such as close up of hand as gun and how it follows up Richards arm to his face, which has distinct Down syndrome features. The scene shows Richard, alone on the foreshore, amusing himself with his play acting. This immediately alienates Richard from the other people because he is not concerned with hisShow MoreRelatedEssay about Parental Alienation Syndrome850 Words   |  4 Pages Parental Alienation Syndrome is defined as a syndrome where one parent (usually the custodial parent) alienates the child or children from the other parent. A child psychiatrist organized this syndrome by the name of Richard Gardner. The fact that Parental Alienation Syndrome is used in custody litigations makes it a very controversial issue. The syndrome tends to target one parent and favor the other, sometimes leaving the child in compromising situations. 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