Neurofibromatosis Type 1: Persisting Misidentification of the "Elephant Man" Disease

Legendre, Claire-Marie; Charpentier-Côté, Catherine; Drouin, Régen; Bouffard, Chantal

doi:10.3122/jabfm.2011.01.100219

Cited by 6 publications

(6 citation statements)

References 6 publications

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“…Doctor-patient communication influences many entities and patient experiences, including back pain, exercise counseling, preferences for depression treatment, prehypertension, and individual entities such as neurofibromatosis 3 and Huntington disease. 4 Two articles in this issue use standard techniques for analysis of audio-recorded visits to study specific provider-patient communications.…”

Section: Doctor Communication Influences Many Entities and Patient Exmentioning

confidence: 99%

Family Practice is a Highly Complex Business

Bowman¹,

Neale²

2011

The Journal of the American Board of Family Medicine

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Section: Doctor Communication Influences Many Entities and Patient Exmentioning

confidence: 99%

Family Practice is a Highly Complex Business

Bowman¹,

Neale²

2011

The Journal of the American Board of Family Medicine

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“…Neurofibromatosis 1 offers one example of this complexity. Half of the time, neurofibromatosis 1 results from a de-novo mutation, while half of the time it is hereditary in an autosomal dominant mode (Legendre et al, 2011). It is also one of the world's most widespread orphan genetic disorders with a prevalence of one in every 3000, almost identical to the far better known cystic fibrosis, with a prevalence of one in every 2500 (Legendre et al, 2011).…”

Section: The Recognition Of Beneficiaries' Continued Free Agencymentioning

confidence: 99%

“…Half of the time, neurofibromatosis 1 results from a de-novo mutation, while half of the time it is hereditary in an autosomal dominant mode (Legendre et al, 2011). It is also one of the world's most widespread orphan genetic disorders with a prevalence of one in every 3000, almost identical to the far better known cystic fibrosis, with a prevalence of one in every 2500 (Legendre et al, 2011). Nevertheless, in 2012, it was reported that five children fathered by a sperm donor (who had exported his spermatozoa to 10 countries and fathered 43 known children) had been diagnosed with neurofibromatosis 1 (Human Fertilisation and Embryology Authority, 2012b).…”

Section: The Recognition Of Beneficiaries' Continued Free Agencymentioning

confidence: 99%

Strengths and pitfalls of Canadian gamete and embryo donor registries: searching for beneficent solutions

Couture

Dubois

Drouin

et al. 2014

Reproductive BioMedicine Online

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For the gamete and embryo donation community, it is well recognized that the implementation of a gamete and embryo donor registry (GEDR) represents a good initiative to ensure the best possible health conditions for donor-conceived individuals. Be they national, institutional or independent, GEDR can play a major role in the transmission of health-related genetic and medical information. However, from a bioethical analysis standpoint, GEDR raise many questions regarding the extent of their beneficent nature. Based on the recent Canadian GEDR aborted attempt, this article will focus on bioethical issues and paradoxes that can impact the wellbeing of donor-conceived individuals, half-siblings, donors and parents. On one hand, the implementation of a GEDR can be ethically justified as a beneficent action towards lessening harm associated with the transmission of hereditary disease and increasing the effectiveness of preventive and therapeutic approaches. On the other hand, examined through the concept of nonpaternalistic beneficence, GEDR challenge us to recognize beneficiaries' free agency, as well as the importance to transmit reliable and pertinent information. Ultimately, beyond an individualistic application of the principle of beneficence, socioethics invite us to consider consistency with societal values as a prerequisite for achieving a common good. Because the issue of whether or not to protect the donor's anonymity occupies the forefront of the discussion surrounding gamete and embryo donation, there is less interest in other initiatives, which may be implemented to ensure the best possible medical and psychosocial conditions for donor-conceived individuals. In this article, we propose a bioethical analysis of the use of gamete and embryo donor registries (GEDR) from the angle of the principle of beneficence. More specifically, we will concentrate on the Canadian situation regarding GEDR. We will look at the strengths and pitfalls of this mechanism and suggest a solution to maximize the benefits of a GEDR. Many have suggested that such an initiative could have a beneficial impact on the wellbeing of donor-conceived individuals, half-siblings, donors and parents, by ensuring the constant flow of health-related medical and genetic information. As self-evident as the social acceptability of a GEDR may seem, we wish to show the limitations of the benefits that a registry is supposed to provide. We argue that a GEDR has to do more than simply transmit health-related information between parties. It also has to be based on pertinent and reliable data, be useful for health promotion and recognize beneficiaries' free agency. Ultimately, the implementation of a GEDR has to take into consideration wider social values.

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“…But, a discriminating diagnosis is required according to many other syndromes distinguishing themselves by asymmetric neoplasm [1][2][3]. In those syndromes, especially Proteus has an importance [4][5][6][7][8][9]. The most common clinical features in NF-1 are cafe-au-lait stains on the skin, cutaneous neurofibromas, freckling in skinfolds and Lisch nodules (iris hamartoma).…”

Section: Introductionmentioning

confidence: 99%

Neurofibromatosis type 1 case which has macrocephaly and skeleton anomalies, “ Neuropsychological evaluation”

Ali¹,

Haki²,

Gumustas³

et al. 2018

Gen Med Open

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Neurofibromatosis type 1 (NF 1) is a very often emerging neurocutaneous genetic disease. It is originated from the mutation in NF 1 gene which exists in chromosome, number 17 and appears once in 2500-3000 live birth. Also, spontaneous mutation is in charge of about 50% of cases. Endemic clinical features are cafe-au-lait stains on the skin, cutaneous neurofibromas, freckling on cleavages and Lisch nodules. More serious problems which ruin quality of life are plexiform neurofibromas, central neural system tumors, endocrine disorders, orthopedic problems, behavior disorders and cognitive impairment. In addition, a discriminating diagnosis was performed with Proteus syndrome which the asymmetric and progressive extremity hypertrophy could be seen with.In this study, we found appropriate to evaluate a 25 year old male patient with no family history, whose quality of life was seriously spoiled, who had hydrocephaly due to aquaduct stenosis, which created both aesthetic and functional problems in his left hand, who had an asymmetric extremity hypertrophy because of cutaneous neurofibromas and painful hip dysplasias and due to arthropathic neuropathy developed, additionally who was an inpatient with cognitive incompetence in the lights of literature data.

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Neurofibromatosis Type 1: Persisting Misidentification of the "Elephant Man" Disease

Cited by 6 publications

References 6 publications

Family Practice is a Highly Complex Business

Family Practice is a Highly Complex Business

Strengths and pitfalls of Canadian gamete and embryo donor registries: searching for beneficent solutions

Neurofibromatosis type 1 case which has macrocephaly and skeleton anomalies, “ Neuropsychological evaluation”

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