The Experts below are selected from a list of 6 Experts worldwide ranked by ideXlab platform
Corinne A. Keet - One of the best experts on this subject based on the ideXlab platform.
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Recognition and management of food-induced anaphylaxis.
Pediatric Clinics of North America, 2011Co-Authors: Corinne A. KeetAbstract:Food allergy is a major cause of anaphylaxis in children, and it appears that the rates of both food allergy and anaphylaxis are increasing in developed countries. Extrapolating the most conservative estimates of anaphylaxis incidence to the overall U.S. population leads to a minimum of 25,000 cases each year. 1 Food allergy accounts for 15–57% of those cases.2–7 Widespread deficiencies of concern include significant under-recognition of anaphylaxis and inadequate treatment. 8–9 One recent report estimated that at least half of likely cases of anaphylaxis are miscoded,10 and other surveys have found even higher rates of misclassification.11–12 Epinephrine, the primary lifesaving drug in anaphylaxis treatment, is used infrequently in emergency settings, and is under-prescribed as a discharge medication. 8, 13 Recognizing food-induced anaphylaxis, adequately treating the episode, identifying the causative agent, and providing effective recommendations to prevent and or live with food allergies are important aspects of care that need to be improved. Definition of Anaphylaxis Anaphylaxis is a multi-system reaction to allergen exposure. Although the term was coined in 190214, pervasive inconsistencies in its application have made interpretation of the literature difficult. In an effort to standardize research of and treatment for anaphylaxis, a joint panel from the American Academy of Allergy, Asthma & Immunology (AAAAI); the American College of Allergy, Asthma & Immunology (ACAAI); and the Joint Council of Allergy, Asthma and Immunologyagreed on a consensus definition of anaphylaxis in 2006, and recently revised it. 15–16 They define anaphylaxis as one of the following: The acute onset of a reaction (minutes to hours)with involvement of the Skin, Mucosal Tissue or both and at least one of the following: Respiratory compromise; or Reduced blood pressure or symptoms of end-organ dysfunction; Two or more of the following that occur rapidly after exposure to a likely allergen for that patient: Involvement of the Skin/Mucosal Tissue, Respiratory compromise, Reduced blood pressure or associated symptoms and/or Persistent gastrointestinal symptoms; or Reduced blood pressure – after exposure to a known allergen.. 16 Although this definition is cumbersome, it highlights the fact that anaphylaxis is not always characterized by severe respiratory and cardiovascular compromise,; persistent abdominal pain and urticaria after ingestion of a likely allergen (for that patient) also meet the definition of anaphylaxis. Generally, anaphylaxis has been understood as an IgE-mediated reaction, although the World Allergy Organization has recommended that non-IgE mediated anaphylaxis-type reactions be included under the term. So far, U.S. consensus panels have rejected that suggestion,16 and in this review, anaphylaxis will refer to an IgE-mediated syndrome.
Karen Laurie David - One of the best experts on this subject based on the ideXlab platform.
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A Case of Beare-Stevenson Syndrome with Unusual Manifestations.
American Journal of Case Reports, 2016Co-Authors: Samuel Leung, Erin Carney, Alexis Gerber, Karen Laurie DavidAbstract:BACKGROUND: Beare-Stevenson syndrome (BSS) is an extremely rare genetic disorder, with fewer than 25 cases reported worldwide. This autosomal dominant syndrome has been linked to two mutations in the fibroblast growth factor receptor 2 gene (FGFR2), Tyr375Cys and Ser372Cys, both causing amino acid changes. CASE REPORT: BSS is characterized by a range of morphological features, some more classically associated than others, of which craniosynostosis has been almost uniformly present. Other common features include cutis gyrata, acanthosis nigricans, ear and eye defects, Skin/Mucosal Tissue tags, prominent umbilical stump, and anogenital anomalies. This account reports what we believe to be the 25th case of BSS, and exhibits a constellation of the characteristic features similar to those previously described, including the presence of cutis gyrata, proptosis, a bifid scrotum, and hypospadias. However, craniosynostosis was not detected prenatally by ultrasound or at birth. Prenatal ultrasound may detect some dysmorphic features of BSS. Many of these features have also been associated with other genetic disorders with overlapping phenotypes. Our case presented with the unusual features of a natal tooth and absence of craniosynostosis at birth. At birth, a diagnosis of BSS was suspected based on clinical features despite the absence of craniosynostosis. This was later confirmed with the use of molecular analysis, revealing a Tyr375Cys mutation of exon 9 of the FGFR2 gene. CONCLUSIONS: We suggest that a normal antenatal ultrasound scan and the absence of craniosynostosis at birth should not preclude further workup for BSS if this possibility is clinically suspected.
Samuel Leung - One of the best experts on this subject based on the ideXlab platform.
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A Case of Beare-Stevenson Syndrome with Unusual Manifestations.
American Journal of Case Reports, 2016Co-Authors: Samuel Leung, Erin Carney, Alexis Gerber, Karen Laurie DavidAbstract:BACKGROUND: Beare-Stevenson syndrome (BSS) is an extremely rare genetic disorder, with fewer than 25 cases reported worldwide. This autosomal dominant syndrome has been linked to two mutations in the fibroblast growth factor receptor 2 gene (FGFR2), Tyr375Cys and Ser372Cys, both causing amino acid changes. CASE REPORT: BSS is characterized by a range of morphological features, some more classically associated than others, of which craniosynostosis has been almost uniformly present. Other common features include cutis gyrata, acanthosis nigricans, ear and eye defects, Skin/Mucosal Tissue tags, prominent umbilical stump, and anogenital anomalies. This account reports what we believe to be the 25th case of BSS, and exhibits a constellation of the characteristic features similar to those previously described, including the presence of cutis gyrata, proptosis, a bifid scrotum, and hypospadias. However, craniosynostosis was not detected prenatally by ultrasound or at birth. Prenatal ultrasound may detect some dysmorphic features of BSS. Many of these features have also been associated with other genetic disorders with overlapping phenotypes. Our case presented with the unusual features of a natal tooth and absence of craniosynostosis at birth. At birth, a diagnosis of BSS was suspected based on clinical features despite the absence of craniosynostosis. This was later confirmed with the use of molecular analysis, revealing a Tyr375Cys mutation of exon 9 of the FGFR2 gene. CONCLUSIONS: We suggest that a normal antenatal ultrasound scan and the absence of craniosynostosis at birth should not preclude further workup for BSS if this possibility is clinically suspected.
Erin Carney - One of the best experts on this subject based on the ideXlab platform.
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A Case of Beare-Stevenson Syndrome with Unusual Manifestations.
American Journal of Case Reports, 2016Co-Authors: Samuel Leung, Erin Carney, Alexis Gerber, Karen Laurie DavidAbstract:BACKGROUND: Beare-Stevenson syndrome (BSS) is an extremely rare genetic disorder, with fewer than 25 cases reported worldwide. This autosomal dominant syndrome has been linked to two mutations in the fibroblast growth factor receptor 2 gene (FGFR2), Tyr375Cys and Ser372Cys, both causing amino acid changes. CASE REPORT: BSS is characterized by a range of morphological features, some more classically associated than others, of which craniosynostosis has been almost uniformly present. Other common features include cutis gyrata, acanthosis nigricans, ear and eye defects, Skin/Mucosal Tissue tags, prominent umbilical stump, and anogenital anomalies. This account reports what we believe to be the 25th case of BSS, and exhibits a constellation of the characteristic features similar to those previously described, including the presence of cutis gyrata, proptosis, a bifid scrotum, and hypospadias. However, craniosynostosis was not detected prenatally by ultrasound or at birth. Prenatal ultrasound may detect some dysmorphic features of BSS. Many of these features have also been associated with other genetic disorders with overlapping phenotypes. Our case presented with the unusual features of a natal tooth and absence of craniosynostosis at birth. At birth, a diagnosis of BSS was suspected based on clinical features despite the absence of craniosynostosis. This was later confirmed with the use of molecular analysis, revealing a Tyr375Cys mutation of exon 9 of the FGFR2 gene. CONCLUSIONS: We suggest that a normal antenatal ultrasound scan and the absence of craniosynostosis at birth should not preclude further workup for BSS if this possibility is clinically suspected.
Alexis Gerber - One of the best experts on this subject based on the ideXlab platform.
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A Case of Beare-Stevenson Syndrome with Unusual Manifestations.
American Journal of Case Reports, 2016Co-Authors: Samuel Leung, Erin Carney, Alexis Gerber, Karen Laurie DavidAbstract:BACKGROUND: Beare-Stevenson syndrome (BSS) is an extremely rare genetic disorder, with fewer than 25 cases reported worldwide. This autosomal dominant syndrome has been linked to two mutations in the fibroblast growth factor receptor 2 gene (FGFR2), Tyr375Cys and Ser372Cys, both causing amino acid changes. CASE REPORT: BSS is characterized by a range of morphological features, some more classically associated than others, of which craniosynostosis has been almost uniformly present. Other common features include cutis gyrata, acanthosis nigricans, ear and eye defects, Skin/Mucosal Tissue tags, prominent umbilical stump, and anogenital anomalies. This account reports what we believe to be the 25th case of BSS, and exhibits a constellation of the characteristic features similar to those previously described, including the presence of cutis gyrata, proptosis, a bifid scrotum, and hypospadias. However, craniosynostosis was not detected prenatally by ultrasound or at birth. Prenatal ultrasound may detect some dysmorphic features of BSS. Many of these features have also been associated with other genetic disorders with overlapping phenotypes. Our case presented with the unusual features of a natal tooth and absence of craniosynostosis at birth. At birth, a diagnosis of BSS was suspected based on clinical features despite the absence of craniosynostosis. This was later confirmed with the use of molecular analysis, revealing a Tyr375Cys mutation of exon 9 of the FGFR2 gene. CONCLUSIONS: We suggest that a normal antenatal ultrasound scan and the absence of craniosynostosis at birth should not preclude further workup for BSS if this possibility is clinically suspected.