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Sample records for amelogenesis imperfecta due

  1. How do children with amelogenesis imperfecta feel about their teeth?

    OpenAIRE

    Parekh, S.; Almehateb, M.; Cunningham, S. J

    2014-01-01

    Amelogenesis imperfecta (AI) is an inherited dental condition affecting enamel, which can result in significant tooth discolouration and enamel breakdown, requiring lifelong dental care. The possible impact of this condition on children and adolescents from their perspectives is not fully understood.

  2. Amelogenesis imperfecta: A challenge to restoring esthetics and function

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    Ranganath V

    2010-01-01

    Full Text Available Rehabilitation of complicated cases poses difficulty in clinical practice, both with respect to restoring function and with esthetics. One such clinical condition where the dentist has to give importance to proper planning of the treatment and execution of the plan is amelogenesis imperfecta (AI, a condition where both function and esthetics are accommodated. This article discusses both the functional and esthetic rehabilitation of a patient with AI. Both the esthetics and function were hampered in this patient due to the condition. As a result, the treatment was properly planned and executed. A number of treatment options are available for us today to treat such a case. There is no one technique to be followed as such. However, the aim was to properly diagnose the case and provide good function and esthetics to the patient.

  3. Distal renal tubular acidosis and amelogenesis imperfecta: A rare association

    OpenAIRE

    Ravi, P.; Ekambaranath, T. S.; Arasi, S. Ellil; Fernando, E.

    2013-01-01

    Renal tubular acidosis (RTA) is characterized by a normal anion gap with hyperchloremic metabolic acidosis. Primary distal RTA (type I) is the most common RTA in children. Childhood presentation of distal RTA includes vomiting, failure to thrive, metabolic acidosis, and hypokalemia. Amelogenesis imperfecta (AI) represents a condition where the dental enamel and oral tissues are affected in an equal manner resulting in the hypoplastic or hypopigmented teeth. We report a 10-year-old girl, previ...

  4. Early restorative rehabilitation of children and adolescents with amelogenesis imperfecta

    OpenAIRE

    Pousette Lundgren, Gunilla

    2015-01-01

    Amelogenesis imperfecta (AI) is a rare, genetically determined defect in enamel mineralization. Patients with (AI) can present with rapid tooth loss or fractures of enamel and dental sensitivity as well as alterations in enamel thickness, color, and shape. These factors may compromise esthetic appearance and masticatory function. Existing treatment recommendations suggest using resin composite restorations until adulthood, although such restorations have a limited longevity. The mai...

  5. Distal renal tubular acidosis and amelogenesis imperfecta: A rare association.

    Science.gov (United States)

    Ravi, P; Ekambaranath, T S; Arasi, S Ellil; Fernando, E

    2013-11-01

    Renal tubular acidosis (RTA) is characterized by a normal anion gap with hyperchloremic metabolic acidosis. Primary distal RTA (type I) is the most common RTA in children. Childhood presentation of distal RTA includes vomiting, failure to thrive, metabolic acidosis, and hypokalemia. Amelogenesis imperfecta (AI) represents a condition where the dental enamel and oral tissues are affected in an equal manner resulting in the hypoplastic or hypopigmented teeth. We report a 10-year-old girl, previously asymptomatic presented with the hypokalemic paralysis and on work-up found out to have type I RTA. The discoloration of teeth and enamel was diagnosed as AI. PMID:24339526

  6. LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta.

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    Kim, J W; Seymen, F; Lee, K E; Ko, J; Yildirim, M; Tuna, E B; Gencay, K; Shin, T J; Kyun, H K; Simmer, J P; Hu, J C-C

    2013-10-01

    Amelogenesis imperfecta (AI) can be either isolated or part of a larger syndrome. Junctional epidermolysis bullosa (JEB) is a collection of autosomal-recessive disorders featuring AI associated with skin fragility and other symptoms. JEB is a recessive syndrome usually caused by mutations in both alleles of COL17A1, LAMA3, LAMB3, or LAMC2. In rare cases, heterozygous carriers in JEB kindreds display enamel malformations in the absence of skin fragility (isolated AI). We recruited two kindreds with autosomal-dominant amelogenesis imperfecta (ADAI) characterized by generalized severe enamel hypoplasia with deep linear grooves and pits. Whole-exome sequencing of both probands identified novel heterozygous mutations in the last exon of LAMB3 that likely truncated the protein. The mutations perfectly segregated with the enamel defects in both families. In Family 1, an 8-bp deletion (c.3446_3453del GACTGGAG) shifted the reading frame (p.Gly 1149Glufs*8). In Family 2, a single nucleotide substitution (c.C3431A) generated an in-frame translation termination codon (p.Ser1144*). We conclude that enamel formation is particularly sensitive to defects in hemidesmosome/basement-membrane complexes and that syndromic and non-syndromic forms of AI can be etiologically related. PMID:23958762

  7. A rare association - amelogenesis imperfecta, platispondyly and bicytopenia: a case report

    OpenAIRE

    Laouina, Samir; Chafai El alaoui, Siham; Amezian, Rachida; Al Bouzidi, Abderrahmane; Sefiani, Abdelaziz; El Alloussi, Mustapha

    2015-01-01

    Introduction Amelogenesis imperfecta is an inherited disease characterized by generalized structural abnormalities of the enamel on all teeth, including both primary and permanent dentition. To the best of our knowledge, this is the first case report of a rare association of amelogenesis imperfecta, platyspondyly, and bicytopenia. Case presentation A 5-year-old Moroccan boy was examined in the Centre for Dental Consultation and Treatment, Faculty of Dentistry, Rabat. He was a child of consang...

  8. Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report

    OpenAIRE

    Bhesania, Dhvani; Arora, Ankit; Kapoor, Sonali

    2015-01-01

    Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old ...

  9. Occurrence of epidermolysis bullosa along with Amelogenesis imperfecta in female patient of India

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    A P Javed

    2013-01-01

    Full Text Available Epidermolysis bullosa (EB is an inherited disorder, which is characteristically presented as skin blisters developing in response to minor injury. Junctional variety of EB is also associated with enamel hypoplasia. Amelogenesis imperfecta presents with abnormal formation of the enamel both in deciduous and permanent dentition. This article describes a previously unreported case of Amelogenesis imperfecta with complete loss of enamel in a young female patient with EB.

  10. Amelogenesis Imperfecta and Screening of Mutation in Amelogenin Gene

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    Fernanda Veronese Oliveira

    2014-01-01

    Full Text Available The aim of this study was to report the clinical findings and the screening of mutations of amelogenin gene of a 7-year-old boy with amelogenesis imperfecta (AI. The genomic DNA was extracted from saliva of patient and his family, followed by PCR and direct DNA sequencing. The c.261C>T mutation was found in samples of mother, father, and brother, but the mutation was not found in the sequence of the patient. This mutation is a silent mutation and a single-nucleotide polymorphism (rs2106416. Thus, it is suggested that the mutation found was not related to the clinical presence of AI. Further research is necessary to examine larger number of patients and genes related to AI.

  11. Dental rehabilitation of amelogenesis imperfecta using thermoformed templates

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    SNMP Sockalingam

    2011-01-01

    Full Text Available Amelogenesis imperfecta represents a group of dental developmental conditions that are genomic in origin. Hypoplastic AI, hypomineralised AI or both in combination were the most common types seen clinically. This paper describes oral rehabilitation of a 9-year-old Malay girl with inherited hypoplastic AI using transparent thermoforming templates. The defective surface areas were reconstructed to their original dimensions on stone cast models of the upper and lower arches using composite, and transparent thermoform templates were fabricated on the models. The templates were used as crown formers to reconstruct the defective teeth clinically using esthetically matching composite. The usage of the templates allowed direct light curing of the composite, accurate reproducibility of the anatomic contours of the defective teeth, reduced chair-side time and easy contouring and placement of homogenous thickness of composite in otherwise inaccessible sites of the affected teeth.

  12. Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report

    International Nuclear Information System (INIS)

    Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management

  13. Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Bhesania, Dhvani; Arora, Ankit; Kapoor, Sonali [Dept. of Conservative Dentistry and Endodontics, Manubhai Patel Dental College, Maharaja Krishnakumarsinhji Bhavnagar University, Vadodara (India)

    2015-09-15

    Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management.

  14. No Evidence for Association between Amelogenesis Imperfecta and Candidate Genes

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    M Ghandehari Motlagh

    2009-03-01

    Full Text Available "nBackground: Amelogenesis imperfecta (AI is an inherited tooth disorder. Despite the fact that up to now, several gene muta­tions in MMP20, ENAM, AMELX and KLK4 genes have been reported to be associated with AI, many other genes sug­gested to be involved. The main objective of this study was to find the mutations in three major candidate genes including MMP20, ENAM and KLK4 responsible for AI from three Iranian families with generalized hypoplastic phenotype in all teeth. "nMethods: All exon/intron boundaries of subjected genes were amplified by polymerase chain reaction and subjected to direct sequencing."nResults: One polymorphisms was identified in KLK4 exon 2, in one family a homozygous mutation was found in the third base of codon 22 for serine (TCG>TCT, but not in other families. Although these base substitutions have been occurred in the signaling domain, they do not seem to influence the activity of KLK4 protein."nConclusion: Our results might support the further evidence for genetic heterogeneity; at least, in some AI cases are not caused by a gene in these reported candidate genes.

  15. Amelogenesis Imperfecta with Taurodontism, Microdontia, and Minor Thalassemia: A Case Report

    OpenAIRE

    Fatemeh Mazhari; Negar Mokhtari Amirmajdi

    2013-01-01

    Amelogenesis imperfecta is a group of genetic disorders that affects both the morphology and quality of tooth structure. Although the disease entity is primarily associated with abnormalities of dental and oral structures, it has been reported to be associated with a few syndromes. A 9-year-old girl with minor thalassemia referred to the Department of Pediatric Dentistry of the Mashhad Faculty of Dentistry with a complaint of sensitivity of first permanent molars. Dental findings consisted of...

  16. FAM83H Mutations in Families with Autosomal-Dominant Hypocalcified Amelogenesis Imperfecta

    OpenAIRE

    Kim, Jung-Wook; Lee, Sook-Kyung; Lee, Zang Hee; Park, Joo-Cheol; Lee, Kyung-Eun; Lee, Myoung-Hwa; Park, Jong-Tae; Seo, Byoung-Moo; Hu, Jan C.-C.; Simmer, James P.

    2008-01-01

    Amelogenesis imperfecta (AI) is a collection of diverse inherited disorders featuring dental-enamel defects in the absence of significant nondental symptoms. AI phenotypes vary and are categorized as hypoplastic, hypocalcified, and hypomaturation types. Phenotypic specificity to enamel has focused research on genes encoding enamel-matrix proteins. We studied two families with autosomal-dominant hypocalcified AI and have identified nonsense mutations (R325X and Q398X) in the FAM83H gene on chr...

  17. Amelogenesis Imperfecta: Rehabilitation and Brainstorming on the Treatment Outcome after the First Year

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    Ayça Deniz İzgi; Ediz Kale; Remzi Niğiz

    2015-01-01

    Amelogenesis imperfecta (AI) affects enamel on primary and permanent dentition. This hereditary disorder is characterized by loss of enamel, poor esthetics, and hypersensitivity. Functional and cosmetic rehabilitation is challenging with variety of treatment options. This report presents the treatment of an AI patient using conventional fixed dentures and discusses issues related to posttreatment complications and prosthetic treatment outcome after 1 year of follow-up. A 19-year-old male AI p...

  18. Aesthetic and Functional Rehabilitation of the Primary Dentition Affected by Amelogenesis Imperfecta

    OpenAIRE

    Maria Carolina Salomé Marquezin; Bruna Raquel Zancopé; Larissa Ferreira Pacheco; Maria Beatriz Duarte Gavião; Fernanda Miori Pascon

    2015-01-01

    The objective of this case report was to describe the oral rehabilitation of a five-year-old boy patient diagnosed with amelogenesis imperfecta (AI) in the primary dentition. AI is a group of hereditary disorders that affects the enamel structure. The patient was brought to the dental clinic complaining of tooth hypersensitivity during meals. The medical history and clinical examination were used to arrive at the diagnosis of AI. The treatment was oral rehabilitation of the primary molars wit...

  19. Abrogation of epithelial BMP2 and BMP4 causes Amelogenesis Imperfecta by reducing MMP20 and KLK4 expression

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    Xie, Xiaohua; Liu, Chao; Zhang, Hua; Jani, Priyam H.; Lu, Yongbo; Wang, Xiaofang; Zhang, Bin; Qin, Chunlin

    2016-01-01

    Amelogenesis Imperfecta (AI) can be caused by the deficiencies of enamel matrix proteins, molecules responsible for the transportation and secretion of enamel matrix components, and proteases processing enamel matrix proteins. In the present study, we discovered the double deletion of bone morphogenetic protein 2 (Bmp2) and bone morphogenetic protein 4 (Bmp4) in the dental epithelium by K14-cre resulted in hypoplastic enamel and reduced density in X-ray radiography as well as shortened enamel rods under scanning electron microscopy. Such enamel phenotype was consistent with the diagnosis of hypoplastic amelogenesis imperfecta. Histological and molecular analyses revealed that the removal of matrix proteins in the mutant enamel was drastically delayed, which was coincided with the greatly reduced expression of matrix metalloproteinase 20 (MMP20) and kallikrein 4 (KLK4). Although the expression of multiple enamel matrix proteins was down-regulated in the mutant ameloblasts, the cleavage of ameloblastin was drastically impaired. Therefore, we attributed the AI primarily to the reduction of MMP20 and KLK4. Further investigation found that BMP/Smad4 signaling pathway was down-regulated in the K14-cre;Bmp2f/f;Bmp4f/fameloblasts, suggesting that the reduced MMP20 and KLK4 expression may be due to the attenuated epithelial BMP/Smad4 signaling. PMID:27146352

  20. Abrogation of epithelial BMP2 and BMP4 causes Amelogenesis Imperfecta by reducing MMP20 and KLK4 expression.

    Science.gov (United States)

    Xie, Xiaohua; Liu, Chao; Zhang, Hua; Jani, Priyam H; Lu, Yongbo; Wang, Xiaofang; Zhang, Bin; Qin, Chunlin

    2016-01-01

    Amelogenesis Imperfecta (AI) can be caused by the deficiencies of enamel matrix proteins, molecules responsible for the transportation and secretion of enamel matrix components, and proteases processing enamel matrix proteins. In the present study, we discovered the double deletion of bone morphogenetic protein 2 (Bmp2) and bone morphogenetic protein 4 (Bmp4) in the dental epithelium by K14-cre resulted in hypoplastic enamel and reduced density in X-ray radiography as well as shortened enamel rods under scanning electron microscopy. Such enamel phenotype was consistent with the diagnosis of hypoplastic amelogenesis imperfecta. Histological and molecular analyses revealed that the removal of matrix proteins in the mutant enamel was drastically delayed, which was coincided with the greatly reduced expression of matrix metalloproteinase 20 (MMP20) and kallikrein 4 (KLK4). Although the expression of multiple enamel matrix proteins was down-regulated in the mutant ameloblasts, the cleavage of ameloblastin was drastically impaired. Therefore, we attributed the AI primarily to the reduction of MMP20 and KLK4. Further investigation found that BMP/Smad4 signaling pathway was down-regulated in the K14-cre;Bmp2(f/f);Bmp4(f/f)ameloblasts, suggesting that the reduced MMP20 and KLK4 expression may be due to the attenuated epithelial BMP/Smad4 signaling. PMID:27146352

  1. Amelogenesis Imperfecta: Rehabilitation and Brainstorming on the Treatment Outcome after the First Year.

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    İzgi, Ayça Deniz; Kale, Ediz; Niğiz, Remzi

    2015-01-01

    Amelogenesis imperfecta (AI) affects enamel on primary and permanent dentition. This hereditary disorder is characterized by loss of enamel, poor esthetics, and hypersensitivity. Functional and cosmetic rehabilitation is challenging with variety of treatment options. This report presents the treatment of an AI patient using conventional fixed dentures and discusses issues related to posttreatment complications and prosthetic treatment outcome after 1 year of follow-up. A 19-year-old male AI patient with impaired self-esteem presented with hypersensitive, discolored, and mutilated teeth. Clinical examination revealed compromised occlusion and anterior open-bite. After hygiene maintenance full-coverage porcelain-fused-to-metal fixed restorations were indicated and applied. At the end of the treatment acceptable functional and esthetic results could be achieved. However, nearly a year after treatment a gingival inflammation in the esthetic zone complicated the outcome. Insufficient oral hygiene was to be blamed. Tooth sensitivity present from early childhood in these patients may prevent oral hygiene from becoming a habit. The relaxation due to relieve of hypersensitivity after treatment makes oral hygiene learning difficult. Continuous oral hygiene maintenance motivation may be crucial for the success of the treatment of AI patients. Treatment of AI patients should be carefully planned and an acceptable risk-benefit balance should be established. PMID:26783475

  2. Noninvasive and Multidisciplinary Approach to the Functional and Esthetic Rehabilitation of Amelogenesis Imperfecta: A Pediatric Case Report

    OpenAIRE

    Juliana Feltrin de Souza; Camila Maria Bullio Fragelli; Marco Aurélio Benini Paschoal; Edson Alves de Campos; Leonardo Fernandes Cunha; Estela Maris Losso; Rita de Cássia Loiola Cordeiro

    2014-01-01

    Case Report. An 8-year-old girl with amelogenesis imperfecta (AI) reported unsatisfactory aesthetics, difficulty in mastication, and dental hypersensitivity. The intraoral examination observed mixed dentition, malocclusion in anteroposterior relationships, anterior open bite, and dental asymmetry. A hypoplastic form of AI was diagnosed in the permanent dentition. A multidisciplinary planning was performed and divided into preventive, orthopedic, and rehabilitation stages. Initially, preventiv...

  3. Satisfaction After Restoring Aesthetics and Function in a Child with Amelogenesis Imperfecta: A Case Report

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    Nihal Özcan

    2016-08-01

    Full Text Available Amelogenesis imperfecta (AI is a hereditary disorder that disrupts the formation of enamel in both primary and permanent dentition. Management of AI is a challenge for the patient and the clinician. This case report presents the management of AI in a six-year-old female patient. Considering the patient’s age, we decided to make removable dentures in order to avoid growth and development problems. Conventional complete dentures were made, vertical dimension was increased, and the desired aesthetics and function were gained. Additionally, satisfaction with prosthodontic rehabilitation was evaluated using a questionnaire. A high level of patient and parent satisfaction was obtained. Treatment planning for patients with AI is related to many factors including the age and socioeconomic status of the patient, the type and severity of the disorder, the intraoral situation at the time the treatment is planned and most importantly, cooperation of the patient plays a major role.

  4. A historical case of amelogenesis imperfecta: Giovanna of Austria, Grand Duchess of Tuscany (1547-1578).

    Science.gov (United States)

    Giuffra, Valentina; Panetta, Daniele; Salvadori, Piero A; Fornaciari, Gino

    2014-02-01

    The skeletal remains of Giovanna of Austria (1547-1578), daughter of the Emperor Ferdinand I of Habsburg (1503-1564) and first wife of the Grand Duke of Tuscany, Francesco I (1541-1587), exhumed from the Basilica of San Lorenzo in Florence, were submitted to paleopathological study. Examination of the dentition, which was in a good state of preservation, showed maxillary retrognathism, together with a caries lesion, moderate periodontal disease, malposition of the upper second premolars and tooth wear. Furthermore, several horizontal grooves were observed in both the buccal and the lingual crown surfaces of almost all teeth, especially the anterior ones. The orthopantomogram showed hypomineralized enamel and alveolar bone loss. Two third-molar teeth were investigated using micro-computed tomography (micro-CT) analysis, revealing highly irregular enamel caps with reduced average thickness. The observed features suggest a diagnosis of hypoplastic amelogenesis imperfecta, a developmental condition affecting enamel formation. PMID:24405030

  5. Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.

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    Xin Wang

    Full Text Available Amelogenesis imperfecta is a group of inherited diseases affecting the quality and quantity of dental enamel. To date, mutations in more than ten genes have been associated with non-syndromic amelogenesis imperfecta (AI. Among these, ENAM and LAMB3 mutations are known to be parts of the etiology of hypoplastic AI in human cases. When both alleles of LAMB3 are defective, it could cause junctional epidermolysis bullosa (JEB, while with only one mutant allele in the C-terminus of LAMB3, it could result in severe hypoplastic AI without skin fragility. We enrolled three Chinese families with hypoplastic autosomal-dominant AI. Despite the diagnosis falling into the same type, the characteristics of their enamel hypoplasia were different. Screening of ENAM and LAMB3 genes was performed by direct sequencing of genomic DNA from blood samples. Disease-causing mutations were identified and perfectly segregated with the enamel defects in three families: a 19-bp insertion mutation in the exon 7 of ENAM (c.406_407insTCAAAAAAGCCGACCACAA, p.K136Ifs*16 in Family 1, a single-base deletion mutation in the exon 5 of ENAM (c. 139delA, p. M47Cfs*11 in Family 2, and a LAMB3 nonsense mutation in the last exon (c.3466C>T, p.Q1156X in Family 3. Our results suggest that heterozygous mutations in ENAM and LAMB3 genes can cause hypoplastic AI with markedly different phenotypes in Chinese patients. And these findings extend the mutation spectrum of both genes and can be used for mutation screening of AI in the Chinese population.

  6. Rehabilitation of a patient with amelogenesis imperfecta using porcelain veneers and CAD/CAM polymer restorations: A clinical report.

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    Saeidi Pour, Reza; Edelhoff, Daniel; Prandtner, Otto; Liebermann, Anja

    2015-01-01

    The complete dental rehabilitation of patients with a vertical dimension loss (VDL) caused by structural enamel deficits associated with amelogenesis imperfecta (AI) represents a difficult challenge for restorative teams. Accurate analysis and treatment planning that includes esthetic and functional evaluations and adequate material selection are important prerequisites for successful results. Long-term provisional restorations play an important role in exploring and elucidating the patients' esthetic demands and functional needs. Restorative treatment options can vary from requiring only oral hygiene instructions to extensive dental restorations that include composite fillings, ceramic veneers, metal-ceramic, or all-ceramic crowns. This case report describes a full-mouth rehabilitation of a patient with amelogenesis imperfecta including the case planning, bite replacement, preparation, and restoration setting steps with an experimental CAD/CAM polymer and porcelain veneers. PMID:26345104

  7. Aesthetic and Functional Rehabilitation of the Primary Dentition Affected by Amelogenesis Imperfecta

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    Maria Carolina Salomé Marquezin

    2015-01-01

    Full Text Available The objective of this case report was to describe the oral rehabilitation of a five-year-old boy patient diagnosed with amelogenesis imperfecta (AI in the primary dentition. AI is a group of hereditary disorders that affects the enamel structure. The patient was brought to the dental clinic complaining of tooth hypersensitivity during meals. The medical history and clinical examination were used to arrive at the diagnosis of AI. The treatment was oral rehabilitation of the primary molars with stainless steel crowns and resin-filled celluloid forms. The main objectives of the selected treatment were to enhance the esthetics, restore masticatory function, and eliminate the teeth sensitivity. The child was monitored in the pediatric dentistry clinic at four-month intervals until the mixed dentition stage. Treatment not only restored function and esthetic, but also showed a positive psychological impact and thereby improved perceived quality of life. The preventive, psychological, and curative measures of a young child with AI were successful. This result can encourage the clinicians to seek a cost-effective technique such as stainless steel crowns, and resin-filled celluloid forms to reestablish the oral functions and improve the child’s psychosocial development.

  8. Aesthetic and functional rehabilitation of the primary dentition affected by amelogenesis imperfecta.

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    Marquezin, Maria Carolina Salomé; Zancopé, Bruna Raquel; Pacheco, Larissa Ferreira; Gavião, Maria Beatriz Duarte; Pascon, Fernanda Miori

    2015-01-01

    The objective of this case report was to describe the oral rehabilitation of a five-year-old boy patient diagnosed with amelogenesis imperfecta (AI) in the primary dentition. AI is a group of hereditary disorders that affects the enamel structure. The patient was brought to the dental clinic complaining of tooth hypersensitivity during meals. The medical history and clinical examination were used to arrive at the diagnosis of AI. The treatment was oral rehabilitation of the primary molars with stainless steel crowns and resin-filled celluloid forms. The main objectives of the selected treatment were to enhance the esthetics, restore masticatory function, and eliminate the teeth sensitivity. The child was monitored in the pediatric dentistry clinic at four-month intervals until the mixed dentition stage. Treatment not only restored function and esthetic, but also showed a positive psychological impact and thereby improved perceived quality of life. The preventive, psychological, and curative measures of a young child with AI were successful. This result can encourage the clinicians to seek a cost-effective technique such as stainless steel crowns, and resin-filled celluloid forms to reestablish the oral functions and improve the child's psychosocial development. PMID:25705526

  9. Simple recessive mutation in ENAM is associated with amelogenesis imperfecta in Italian Greyhounds.

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    Gandolfi, Barbara; Liu, Hongwei; Griffioen, Layle; Pedersen, Niels C

    2013-08-01

    We report a familial enamel hypoplasia in Italian Greyhounds resembling non-syndromic autosomal recessive amelogenesis imperfecta (AI) of humans. The condition uniformly affects deciduous and permanent teeth and is manifested by enamel roughening/thinning and brownish mottling. Affected teeth are often small and pointed with increased gaps. However, basic tooth structure is usually maintained throughout life, and fractures and dental cavities are not a serious problem as in humans. No tissues or organs other than teeth were affected by this mutation, and there was no relationship between enamel hypoplasia and either autoimmunity or periodontal disease, which also are prevalent in the breed. The enamel hypoplasia was associated with a 5-bp deletion in exon 10 of the enamelin (ENAM) gene. The prevalence of the enamel defect in Italian Greyhounds was 14%, and 30% of dogs with normal teeth were carriers. Genome analyses suggest that the trait is under inadvertent positive selection. Based on the deletion detected in the ENAM gene, a genetic test was developed for identifying mutation carriers, which would enable breeders to manage the trait. PMID:23638899

  10. Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

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    El-Sayed, Walid; Parry, David A.; Shore, Roger C.; Ahmed, Mushtaq; Jafri, Hussain; Rashid, Yasmin; Al-Bahlani, Suhaila; Al Harasi, Sharifa; Kirkham, Jennifer; Inglehearn, Chris F.; Mighell, Alan J.

    2009-01-01

    Healthy dental enamel is the hardest and most highly mineralized human tissue. Though acellular, nonvital, and without capacity for turnover or repair, it can nevertheless last a lifetime. Amelogenesis imperfecta (AI) is a collective term for failure of normal enamel development, covering diverse clinical phenotypes that typically show Mendelian inheritance patterns. One subset, known as hypomaturation AI, is characterised by near-normal volumes of organic enamel matrix but with weak, creamy-brown opaque enamel that fails prematurely after tooth eruption. Mutations in genes critical to enamel matrix formation have been documented, but current understanding of other key events in enamel biomineralization is limited. We investigated autosomal-recessive hypomaturation AI in a consanguineous Pakistani family. A whole-genome SNP autozygosity screen identified a locus on chromosome 15q21.3. Sequencing candidate genes revealed a point mutation in the poorly characterized WDR72 gene. Screening of WDR72 in a panel of nine additional hypomaturation AI families revealed the same mutation in a second, apparently unrelated, Pakistani family and two further nonsense mutations in Omani families. Immunohistochemistry confirmed intracellular localization in maturation-stage ameloblasts. WDR72 function is unknown, but as a putative β propeller is expected to be a scaffold for protein-protein interactions. The nearest homolog, WDR7, is involved in vesicle mobilization and Ca2+-dependent exocytosis at synapses. Vesicle trafficking is important in maturation-stage ameloblasts with respect to secretion into immature enamel and removal of cleaved enamel matrix proteins via endocytosis. This raises the intriguing possibility that WDR72 is critical to ameloblast vesicle turnover during enamel maturation. PMID:19853237

  11. Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

    Science.gov (United States)

    Huckert, Mathilde; Stoetzel, Corinne; Morkmued, Supawich; Laugel-Haushalter, Virginie; Geoffroy, Véronique; Muller, Jean; Clauss, François; Prasad, Megana K.; Obry, Frédéric; Raymond, Jean Louis; Switala, Marzena; Alembik, Yves; Soskin, Sylvie; Mathieu, Eric; Hemmerlé, Joseph; Weickert, Jean-Luc; Dabovic, Branka Brukner; Rifkin, Daniel B.; Dheedene, Annelies; Boudin, Eveline; Caluseriu, Oana; Cholette, Marie-Claude; Mcleod, Ross; Antequera, Reynaldo; Gellé, Marie-Paule; Coeuriot, Jean-Louis; Jacquelin, Louis-Frédéric; Bailleul-Forestier, Isabelle; Manière, Marie-Cécile; Van Hul, Wim; Bertola, Debora; Dollé, Pascal; Verloes, Alain; Mortier, Geert; Dollfus, Hélène; Bloch-Zupan, Agnès

    2015-01-01

    Inherited dental malformations constitute a clinically and genetically heterogeneous group of disorders. Here, we report on four families, three of them consanguineous, with an identical phenotype, characterized by significant short stature with brachyolmia and hypoplastic amelogenesis imperfecta (AI) with almost absent enamel. This phenotype was first described in 1996 by Verloes et al. as an autosomal recessive form of brachyolmia associated with AI. Whole-exome sequencing resulted in the identification of recessive hypomorphic mutations including deletion, nonsense and splice mutations, in the LTBP3 gene, which is involved in the TGF-beta signaling pathway. We further investigated gene expression during mouse development and tooth formation. Differentiated ameloblasts synthesizing enamel matrix proteins and odontoblasts expressed the gene. Study of an available knockout mouse model showed that the mutant mice displayed very thin to absent enamel in both incisors and molars, hereby recapitulating the AI phenotype in the human disorder. PMID:25669657

  12. Interdisciplinary Full Mouth Rehabilitation of a Patient with Amelogenesis Imperfecta: A Case Report with 8 Years Follow-up.

    Science.gov (United States)

    Sreedevi, S; Sanjeev, R; Ephraim, Rena; Joseph, Mathai

    2014-01-01

    This case report deals with the interdisciplinary approach of a 28-year-old lady with Amelogenesis imperfecta of the hypoplastic kind. The patient came with a chief illness of worn out teeth, unsatisfactory esthetics and severe sensitivity of teeth. Her family history revealed a related situation in her father's brother and her sister. On clinical assessment, the crowns of all teeth were worn out. The plan of the treatment was to protect as much tooth structure, restore the vertical dimension, and improve esthetics and masticatory function. The treatment procedures involved prosthodontic, endodontic, and periodontic interventions. After recording the vertical height, endodontic treatment and crown lengthening were performed with respect to the lower anteriors. The lost vertical height was regained in stages by insertion of full coverage crowns for all the teeth. The patient's esthetic and functional needs were met with systematic and sequential interdisciplinary treatment approach. PMID:25628493

  13. Loss of epithelial FAM20A in mice causes amelogenesis imperfecta, tooth eruption delay and gingival overgrowth.

    Science.gov (United States)

    Li, Li-Li; Liu, Pei-Hong; Xie, Xiao-Hua; Ma, Su; Liu, Chao; Chen, Li; Qin, Chun-Lin

    2016-01-01

    FAM20A has been studied to a very limited extent. Mutations in human FAM20A cause amelogenesis imperfecta, gingival fibromatosis and kidney problems. It would be desirable to systemically analyse the expression of FAM20A in dental tissues and to assess the pathological changes when this molecule is specifically nullified in individual tissues. Recently, we generated mice with a Fam20A-floxed allele containing the beta-galactosidase reporter gene. We analysed FAM20A expression in dental tissues using X-Gal staining, immunohistochemistry and in situ hybridization, which showed that the ameloblasts in the mouse mandibular first molar began to express FAM20A at 1 day after birth, and the reduced enamel epithelium in erupting molars expressed a significant level of FAM20A. By breeding K14-Cre mice with Fam20A(flox/flox) mice, we created K14-Cre;Fam20A(flox/flox) (conditional knock out, cKO) mice, in which Fam20A was inactivated in the epithelium. We analysed the dental tissues of cKO mice using X-ray radiography, histology and immunohistochemistry. The molar enamel matrix in cKO mice was much thinner than normal and was often separated from the dentinoenamel junction. The Fam20A-deficient ameloblasts were non-polarized and disorganized and were detached from the enamel matrix. The enamel abnormality in cKO mice was consistent with the diagnosis of amelogenesis imperfecta. The levels of enamelin and matrix metalloproteinase 20 were lower in the ameloblasts and enamel of cKO mice than the normal mice. The cKO mice had remarkable delays in the eruption of molars and hyperplasia of the gingival epithelium. The findings emphasize the essential roles of FAM20A in the development of dental and oral tissues. PMID:27281036

  14. Treatment of teeth in the esthetic zone in a patient with amelogenesis imperfecta using composite veneers and the clear matrix technique: A case report

    OpenAIRE

    Bogosavljević Aleksandar; Mišina Vanja; Jordačević Jovana; Abazović Milka; Dukić Smiljka; Ristić Ljubiša; Daković Dragana

    2016-01-01

    Introduction. Restorative dental treatment of patients with a generalized form of amelogenesis imperfecta (AI) remains a challenge even today. The treatment approach is multidisciplinary and includes action of several dental disciplines such as restorative, orthodontic, and prosthetic dental specialties. Case report. A 18-year-old female patent was referred to the Department of Restorative Dentistry and Periodontology at the Military Medical Academy of Belg...

  15. Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.

    Science.gov (United States)

    Hentschel, Julia; Tatun, Dana; Parkhomchuk, Dmitri; Kurth, Ingo; Schimmel, Bettina; Heinrich-Weltzien, Roswitha; Bertzbach, Sabine; Peters, Hartmut; Beetz, Christian

    2016-09-15

    Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous disorder of tooth development which is due to aberrant deposition or composition of enamel. Both syndromic and isolated forms exist; they may be inherited in an X-linked, autosomal recessive, or autosomal dominant manner. WDR72 is one of ten currently known genes for recessive isolated AI; nine WDR72 mutations affecting single nucleotides have been described to date. Based on whole exome sequencing in a large consanguineous AI pedigree, we obtained evidence for presence of a multi-exonic WDR72 deletion. A home-made multiplex ligation-dependent probe amplification assay was used to confirm the aberration, to narrow its extent, and to identify heterozygous carriers. Our study extends the mutational spectrum for WDR72 to include large deletions, and supports a relevance of the previously proposed loss-of-function mechanism. It also introduces an easy-to-use and highly sensitive tool for detecting WDR72 copy number alterations. PMID:27259663

  16. Noninvasive and multidisciplinary approach to the functional and esthetic rehabilitation of amelogenesis imperfecta: a pediatric case report.

    Science.gov (United States)

    de Souza, Juliana Feltrin; Fragelli, Camila Maria Bullio; Paschoal, Marco Aurélio Benini; Campos, Edson Alves; Cunha, Leonardo Fernandes; Losso, Estela Maris; Cordeiro, Rita de Cássia Loiola

    2014-01-01

    Case Report. An 8-year-old girl with amelogenesis imperfecta (AI) reported unsatisfactory aesthetics, difficulty in mastication, and dental hypersensitivity. The intraoral examination observed mixed dentition, malocclusion in anteroposterior relationships, anterior open bite, and dental asymmetry. A hypoplastic form of AI was diagnosed in the permanent dentition. A multidisciplinary planning was performed and divided into preventive, orthopedic, and rehabilitation stages. Initially, preventive treatment was implemented, with fluoride varnish applications, in order to protect the fragile enamel and reduce the dental sensitivity. In the second stage, the patient received an interceptive orthopedic treatment to improve cross-relationship of the arches during six months. Finally, the rehabilitation treatment was executed to establish the vertical dimension. In the posterior teeth, indirect composite resin crowns were performed with minimally invasive dental preparation. Direct composite resin restorations were used to improve the appearance of anterior teeth. Follow-Up. The follow-up was carried out after 3, 6, 12, and 18 months. After 18 months of follow-up, The restoration of integrity, oral hygiene, and patient satisfaction were observed . Conclusion. Successful reduction of the dental hypersensitivity and improvement of the aesthetic and functional aspects as well as quality of life were observed. PMID:25061528

  17. Noninvasive and Multidisciplinary Approach to the Functional and Esthetic Rehabilitation of Amelogenesis Imperfecta: A Pediatric Case Report

    Directory of Open Access Journals (Sweden)

    Juliana Feltrin de Souza

    2014-01-01

    Full Text Available Case Report. An 8-year-old girl with amelogenesis imperfecta (AI reported unsatisfactory aesthetics, difficulty in mastication, and dental hypersensitivity. The intraoral examination observed mixed dentition, malocclusion in anteroposterior relationships, anterior open bite, and dental asymmetry. A hypoplastic form of AI was diagnosed in the permanent dentition. A multidisciplinary planning was performed and divided into preventive, orthopedic, and rehabilitation stages. Initially, preventive treatment was implemented, with fluoride varnish applications, in order to protect the fragile enamel and reduce the dental sensitivity. In the second stage, the patient received an interceptive orthopedic treatment to improve cross-relationship of the arches during six months. Finally, the rehabilitation treatment was executed to establish the vertical dimension. In the posterior teeth, indirect composite resin crowns were performed with minimally invasive dental preparation. Direct composite resin restorations were used to improve the appearance of anterior teeth. Follow-Up. The follow-up was carried out after 3, 6, 12, and 18 months. After 18 months of follow-up, The restoration of integrity, oral hygiene, and patient satisfaction were observed . Conclusion. Successful reduction of the dental hypersensitivity and improvement of the aesthetic and functional aspects as well as quality of life were observed.

  18. Amelogenesis Imperfecta and Early Restorative Crown Therapy: An Interview Study with Adolescents and Young Adults on Their Experiences

    Science.gov (United States)

    Wickström, Anette; Hasselblad, Tove; Dahllöf, Göran

    2016-01-01

    Patients with Amelogenesis imperfecta (AI) can present with rapid tooth loss or fractures of enamel as well as alterations in enamel thickness, color, and shape; factors that may compromise aesthetic appearance and masticatory function. The aim was to explore the experiences and perceptions of adolescents and young adults living with AI and receiving early prosthetic therapy. Seven patients with severe AI aged 16 to 23 years who underwent porcelain crown therapy participated in one-to-one individual interviews. The interviews followed a topic guide consisting of open-ended questions related to experiences of having AI. Transcripts from the interviews were analyzed using thematic analysis. The analysis process identified three main themes: Disturbances in daily life, Managing disturbances, and Normalization of daily life. These themes explain the experiences of patients living with enamel disturbances caused by AI and receiving early crown therapy. Experiences include severe pain and sensitivity problems, feelings of embarrassment, and dealing with dental staff that lack knowledge and understanding of their condition. The patients described ways to manage their disturbances and to reduce pain when eating or drinking, and strategies for meeting other people. After definitive treatment with porcelain crown therapy, they described feeling like a normal patient. In conclusion the results showed that adolescents and young adults describe a profound effect of AI on several aspects of their daily life. PMID:27359125

  19. Improved protocol to purify untagged amelogenin – Application to murine amelogenin containing the equivalent P70→T point mutation observed in human amelogenesis imperfecta

    Energy Technology Data Exchange (ETDEWEB)

    Buchko, Garry W.; Shaw, Wendy J.

    2015-01-01

    Amelogenin is the predominant extracellular protein responsible for converting carbonated hydroxyapatite into dental enamel, the hardest and most heavily mineralized tissue in vertebrates. Despite much effort, the precise mechanism by which amelogenin regulates enamel formation is not fully understood. To assist efforts aimed at understanding the biochemical mechanism of enamel formation, more facile protocols to purify recombinantly expressed amelogenin, ideally without any tag to assist affinity purification, are advantageous. Here we describe an improved method to purify milligram quantities of amelogenin that exploits its high solubility in 2% glacial acetic acid under conditions of low ionic strength. The method involves heating the frozen cell pellet for two 15 min periods at ~70 ºC with two minutes of sonication in between, dialysis twice in 2% acetic acid (1:250 v/v), and reverse phase chromatography. A further improvement in yield is obtained by resuspending the frozen cell pellet in 6 M guanidine hydrochloride in the first step. The acetic acid heating method is illustrated with a murine amelogenin containing the corresponding P70→T point mutation observed in an human amelogenin associated with amelogenesis imperfecta (P71T), while the guanidine hydrochloride heating method is illustrated with wild type murine amelogenin (M180). The self-assembly properties of P71T were probed by NMR chemical shift perturbation studies as a function of protein (0.1 to 1.8 mM) and NaCl (0 to 367 mM) concentration. Relative to similar studies with wild type murine amelogenin, P71T self-associates at lower protein or salt concentrations with the interactions initiated near the N-terminus.

  20. Improved protocol to purify untagged amelogenin - Application to murine amelogenin containing the equivalent P70→T point mutation observed in human amelogenesis imperfecta.

    Science.gov (United States)

    Buchko, Garry W; Shaw, Wendy J

    2015-01-01

    Amelogenin is the predominant extracellular protein responsible for converting carbonated hydroxyapatite into dental enamel, the hardest and most heavily mineralized tissue in vertebrates. Despite much effort, the precise mechanism by which amelogenin regulates enamel formation is not fully understood. To assist efforts aimed at understanding the biochemical mechanism of enamel formation, more facile protocols to purify recombinantly expressed amelogenin, ideally without any tag to assist affinity purification, are advantageous. Here we describe an improved method to purify milligram quantities of amelogenin that exploits its high solubility in 2% glacial acetic acid under conditions of low ionic strength. The method involves heating the frozen cell pellet for two 15min periods at ∼70°C with 2min of sonication in between, dialysis twice in 2% acetic acid (1:250 v/v), and reverse phase chromatography. A further improvement in yield is obtained by resuspending the frozen cell pellet in 6M guanidine hydrochloride in the first step. The acetic acid heating method is illustrated with a murine amelogenin containing the corresponding P70→T point mutation observed in an human amelogenin associated with amelogenesis imperfecta (P71T), while the guanidine hydrochloride heating method is illustrated with wild type murine amelogenin (M180). The self-assembly properties of P71T were probed by NMR chemical shift perturbation studies as a function of protein (0.1-1.8mM) and NaCl (0-367mM) concentration. Relative to similar studies with wild type murine amelogenin, P71T self-associates at lower protein or salt concentrations with the interactions initiated near the N-terminus. PMID:25306873

  1. Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.

    Science.gov (United States)

    Moul, Adrienne; Alladin, Amanda; Navarrete, Cristina; Abdenour, George; Rodriguez, Maria M

    2013-10-01

    Osteogenesis imperfecta is a rare connective tissue disorder characterized by bone fragility and low bone density. Most cases are caused by an autosomal dominant mutation in either COL1A1 or COL1A2 gene encoding type I collagen. However, autosomal recessive forms have been identified. We present a patient with severe respiratory distress due to osteogenesis imperfecta simulating type II, born to a non-consanguineous couple with mixed African-American and African-Hispanic ethnicity. Cultured skin fibroblasts demonstrated compound heterozygosity for mutations in the LEPRE1 gene encoding prolyl 3-hydroxylase 1 confirming the diagnosis of autosomal recessive osteogenesis imperfecta type VIII, perinatal lethal type. PMID:23301918

  2. Genetics Home Reference: amelogenesis imperfecta

    Science.gov (United States)

    ... and may have a yellow or brown color. Teeth with defective enamel are weak and easily damaged. Mutations in the ... area? Other Names for This Condition AI congenital enamel ... of Dental and Craniofacial Research Educational Resources (5 links) Disease ...

  3. The genetics of amelogenesis imperfecta: a review of the literature Genética da amelogênese imperfeita: uma revisão da literatura

    OpenAIRE

    Maria Cristina Leme Godoy dos Santos; Sergio Roberto Peres Line

    2005-01-01

    A melogenesis imperfecta (AI) is a group of inherited defects of dental enamel formation that show both clinical and genetic heterogeneity. Enamel findings in AI are highly variable, ranging from deficient enamel formation to defects in the mineral and protein content. Enamel formation requires the expression of multiple genes that transcribes matrix proteins and proteinases needed to control the complex process of crystal growth and mineralization. The AI phenotypes depend on the specific ge...

  4. A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.

    Science.gov (United States)

    Jalloul, Ali H; Rogasevskaia, Tatiana P; Szerencsei, Robert T; Schnetkamp, Paul P M

    2016-06-17

    K(+)-dependent Na(+)/Ca(2+) exchangers belong to the solute carrier 24 (SLC24A1-5) gene family of membrane transporters. Five different gene products (NCKX1-5) have been identified in humans, which play key roles in biological processes including vision, olfaction, and skin pigmentation. NCKXs are bi-directional membrane transporters that transport 1 Ca(2+)+K(+) ions in exchange for 4 Na(+) ions. Recent studies have linked mutations in the SLC24A4 (NCKX4) and SLC24A5 (NCKX5) genes to amylogenesis imperfecta (AI) and non-syndromic oculocutaneous albinism (OCA6), respectively. Here, we introduced mutations found in patients with AI and OCA6 into human SLC24A4 (NCKX4) cDNA leading to single residue substitutions in the mutant NCKX4 proteins. We measured NCKX-mediated Ca(2+) transport activity of WT and mutant NCKX4 proteins expressed in HEK293 cells. Three mutant NCKX4 cDNAs represent mutations found in the SCL24A4 gene and three represent mutations found in the SCL24A5 gene involving residues conserved between NCKX4 and NCKX5. Five mutant proteins had no observable NCKX activity, whereas one mutation resulted in a 78% reduction in transport activity. Total protein expression and trafficking to the plasma membrane (the latter with one exception) were not affected in the HEK293 cell expression system. We also analyzed two mutations in a Drosophila NCKX gene that have been reported to result in an increased susceptibility for seizures, and found that both resulted in mutant proteins with significantly reduced but observable NCKX activity. The data presented here support the genetic analyses that mutations in SLC24A4 and SLC24A5 are responsible for the phenotypic defects observed in human patients. PMID:27129268

  5. Osteogenesis imperfecta

    OpenAIRE

    Gupte Tejashri; Iyer V; Damle S; Malik N; Halbe A

    2006-01-01

    Osteogenesis imperfecta is an inherited disorder of the connective tissue. The extreme bone fragility seen in patients suffering from osteogenesis imperfecta pose a series of problems with regard to behavior management and rendering of quality dental treatment. Presented here a case of a four year old child suffering from osteogenesis imperfecta.

  6. What Is Osteogenesis Imperfecta?

    Science.gov (United States)

    ... your browser. Home Osteogenesis Imperfecta Osteogenesis Imperfecta Basics What Is Osteogenesis Imperfecta? Fast Facts: An Easy-to- ... Being Done on Osteogenesis Imperfecta? For More Information What Causes Osteogenesis Imperfecta? OI is caused by one ...

  7. Competencia imperfecta

    OpenAIRE

    Aguirre Pérez, Iñaki

    2009-01-01

    De utilidad para:•Alumnos de Tª Microeconómica IV, curso 3º LE. •Alumnos de las asignaturas de Tª de Juegos y Organización Industrial del Máster en Economía: Instrumentos del Análisis Económico. Estas notas sobre competencia imperfecta están dedicadas al estudio de estructuras de mercado caracterizadas por la existencia de poder de mercado. Se estudia en primer lugar el monopolio, dedicando una atención especial a los diferentes tipos de discriminación de precios. A continuación s...

  8. Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia

    Directory of Open Access Journals (Sweden)

    MacKie Iain

    2008-11-01

    Full Text Available Abstract The hereditary dentine disorders, dentinogenesis imperfecta (DGI and dentine dysplasia (DD, comprise a group of autosomal dominant genetic conditions characterised by abnormal dentine structure affecting either the primary or both the primary and secondary dentitions. DGI is reported to have an incidence of 1 in 6,000 to 1 in 8,000, whereas that of DD type 1 is 1 in 100,000. Clinically, the teeth are discoloured and show structural defects such as bulbous crowns and small pulp chambers radiographically. The underlying defect of mineralisation often results in shearing of the overlying enamel leaving exposed weakened dentine which is prone to wear. Currently, three sub-types of DGI and two sub-types of DD are recognised but this categorisation may change when other causative mutations are found. DGI type I is inherited with osteogenesis imperfecta and recent genetic studies have shown that mutations in the genes encoding collagen type 1, COL1A1 and COL1A2, underlie this condition. All other forms of DGI and DD, except DD-1, appear to result from mutations in the gene encoding dentine sialophosphoprotein (DSPP, suggesting that these conditions are allelic. Diagnosis is based on family history, pedigree construction and detailed clinical examination, while genetic diagnosis may become useful in the future once sufficient disease-causing mutations have been discovered. Differential diagnoses include hypocalcified forms of amelogenesis imperfecta, congenital erythropoietic porphyria, conditions leading to early tooth loss (Kostmann's disease, cyclic neutropenia, Chediak-Hegashi syndrome, histiocytosis X, Papillon-Lefevre syndrome, permanent teeth discolouration due to tetracyclines, Vitamin D-dependent and vitamin D-resistant rickets. Treatment involves removal of sources of infection or pain, improvement of aesthetics and protection of the posterior teeth from wear. Beginning in infancy, treatment usually continues into adulthood with a

  9. Genetics Home Reference: dentinogenesis imperfecta

    Science.gov (United States)

    ... type II Dentinogenesis imperfecta - Shield's type III Scientific articles on PubMed (1 link) PubMed OMIM (3 links) DENTIN DYSPLASIA, TYPE II DENTINOGENESIS IMPERFECTA 1 DENTINOGENESIS IMPERFECTA, ...

  10. Dentinogenesis imperfecta associated with osteogenesis imperfecta

    Directory of Open Access Journals (Sweden)

    Mina Biria

    2012-01-01

    Full Text Available This paper presents a case with dentinogenesis imperfecta (DI associated with osteogenesis imperfecta. Systemic and dental manifestations of OI and its medical and dental treatments are discussed in this paper. A 5-year-old child with the diagnosis of OI was referred to the Dental School of Shaid Beheshti University of Medical Sciences. On clinical examination yellow/brown discoloration of primary teeth with the attrition of the exposed dentin and class III malocclusion was observed. Enamel of first permanent molars was hypoplastic. Radiographic examinations confirmed the diagnosis of DI. A histological study was performed on one of the exfoliating teeth, which showed abnormal dentin. Primary teeth with DI were more severely affected compared to permanent teeth; enamel disintegration occurred in teeth with DI, demonstrating the need for restricts recalls for these patients.

  11. The Relationship between Osteogenesis Imperfecta and Spinal Muscular Atrophy

    Directory of Open Access Journals (Sweden)

    Babak Soltani

    2011-09-01

    Full Text Available ObjectiveA 4-month-old female with osteogenesis imperfecta (OI type II was admitted in PICU of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated. Due to severe hypotonia, NCV and EMG were performed, and spinal muscular atrophy (SMA type I was diagnosed.Keywords: Osteogenesis imperfecta; spinal muscular atrophy; hypotonia

  12. The Relationship between Osteogenesis Imperfecta and Spinal Muscular Atrophy

    OpenAIRE

    Babak Soltani; Abdollah Karimi; Alireza Fahimzad; Mahshid Talebian

    2011-01-01

    ObjectiveA 4-month-old female with osteogenesis imperfecta (OI) type II was admitted in PICU of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated. Due to severe hypotonia, NCV and EMG were performed, and spinal muscular atrophy (SMA) type I was diagnosed.Keywords: Osteogenesis imperfecta; spinal muscular atrophy; hypotonia

  13. Osteogenesis imperfecta type V

    DEFF Research Database (Denmark)

    Rauch, Frank; Moffatt, Pierre; Cheung, Moira;

    2013-01-01

    Osteogenesis imperfecta (OI) type V is an autosomal dominant bone fragility disorder that we had described a decade ago. Recent research has shown that OI type V is caused by a recurrent c.-14C>T mutation in IFITM5. In the present study, we assessed all patients diagnosed with OI type V at our in...

  14. Prosthodontic rehabilitation of dentinogenesis imperfecta

    Directory of Open Access Journals (Sweden)

    Anil Goud

    2011-01-01

    Full Text Available Dentinogenesis imperfecta and its prosthodontic management is a challenging task. Treatment protocol varies according to clinical case. Although various reports in the literature suggest general guidelines for treatment planning, the present case report describes a full mouth rehabilitation of a young patient with dentinogenesis imperfecta treated by maxillary fixed partial dentures and mandibular fiber reinforced overdenture with metal occlusal surfaces.

  15. The Relationship between Osteogenesis Imperfecta and Spinal Muscular Atrophy

    Directory of Open Access Journals (Sweden)

    Babak Soltani

    2011-06-01

    Full Text Available ObjectiveA 4-month-old female with osteogenesis imperfecta (OI type II was admitted in PICU of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated. Due to severe hypotonia, NCV and EMG were performed, and spinal muscular atrophy (SMA type I was diagnosed.

  16. Osteogenesis imperfecta: cesarean deliveries in identical twins.

    Science.gov (United States)

    Dinges, E; Ortner, C; Bollag, L; Davies, J; Landau, R

    2015-02-01

    Osteogenesis imperfecta is a congenital disorder resulting in multiple fractures and extremely short stature, usually necessitating cesarean delivery. Identical twins with severe osteogenesis imperfecta each of whom underwent a cesarean delivery with different anesthetic modalities are presented. A review of the literature and anesthetic options for cesarean delivery and postoperative analgesia for women with osteogenesis imperfecta are discussed. PMID:25433579

  17. Metaphyseal bands in osteogenesis imperfecta

    International Nuclear Information System (INIS)

    An increasing number of patients with osteogenesis imperfecta are undergoing pamidronate therapy to prevent the incidence of fragility fractures. The authors herein report a child aged 3 years who received five cycles of pamidronate, resulting in metaphyseal bands, known as “zebra lines.”

  18. Cardiovascular Involvement in Children with Osteogenesis Imperfecta

    OpenAIRE

    Gholamhossein Amirhakimi; Zohreh Karamizadeh; Gholamhossein Ajami; Homa Ilkhanipoor; Hamdollah Karamifar; Ali-Mohammad Shakiba

    2013-01-01

    Objective: Osteogenesis imperfecta is a hereditary disease resulting from mutation in type I procollagen genes. One of the extra skeletal manifestations of this disease is cardiac involvement. The prevalence of cardiac involvement is still unknown in the children with osteogenesis imperfecta. The present study aimed to investigate the prevalence of cardiovascular abnormalities in these patients.Methods: 24 children with osteogenesis imperfecta and 24 normal children who were matched with the ...

  19. Recent developments in osteogenesis imperfecta

    OpenAIRE

    Joseph L. Shaker; Carolyne Albert; Jessica Fritz; Gerald Harris

    2015-01-01

    Osteogenesis imperfecta (OI) is an uncommon genetic bone disease associated with brittle bones and fractures in children and adults. Although OI is most commonly associated with mutations of the genes for type I collagen, many other genes (some associated with type I collagen processing) have now been identified. The genetics of OI and advances in our understanding of the biomechanical properties of OI bone are reviewed in this article. Treatment includes physiotherapy, fall prevention, and s...

  20. Treatment Concepts of Osteogenesis Imperfecta

    Directory of Open Access Journals (Sweden)

    Ramji Lal Sahu

    2012-06-01

    Full Text Available Background: To explore the Application of the intramedullary nails for correction of deformity in the lower limbs and decrease the opportunity of refractures in children with osteogenesis imperfecta.Materials and Methods: From July 2005 to July 2009, 11 patients (5 males and 6 females, were recruited from Emergency and outpatient department having deformities of osteogenesis imperfecta in lower limbs. With 3 femurs and 5 tibias with deformity in lower limps were corrected by multiosteotomy and fixed with intramedullary interlocking nails, 6 (3 femurs and 3 tibias for Rush nails; 6 (2 femurs and 4 tibias for Ender nails; and 12 (6 femurs and 6 tibias for flexible intramedullary nails. All patients were operated under general or spinal anesthesia. Results: All deformities were perfectly corrected. All patients were available at final follow up, for 9 months to 36 months, mean 18 months. 2 patients had delayed union, 2 had superficial infection in the incision or pin tract, and 1 had refractures postoperatively. The results were excellent in 72.727% and good in 27.272% patients. Conclusion: Multiosteotomy and fixed intramedullary nails can correct the deformity in the lower limbs perfectly and decrease the opportunity of refractures in children with osteogenesis imperfecta, which has been proved to be a reliable method.

  1. Osteogenesis imperfecta type V, spot diagnosis

    International Nuclear Information System (INIS)

    Background: The first case of Osteogenesis Imperfecta Type V in the Polish literature is reported. Case Report: Skeletal survey of an 8 year old girl with a history of multiple fractures and bilateral dislocation of radial heads was received for consultation. Conclusions: Generalised osteoporosis with multiple fractures, periosteal thickening and bilateral dislocation of the radial heads are characteristic signs of osteogenesis imperfecta Type V. The Nosology and Classification of Genetic Skeletal Disorders 2006 Revision classified Osteogenesis Imperfecta into 8 major types. Type V is recognizable on the basis of skeletal survey alone. (author)

  2. Osteogenesis Imperfecta (OI) - En oversiktsartikkel

    OpenAIRE

    Marvik, Jarle

    2013-01-01

    Osteogenesis imperfecta (OI) er en sjelden, arvelig bindevevssykdom, kjennetegnet av beinskjørhet og nedsatt beintetthet, med et bredt klinisk spekter. I Norge fins det omtrent 300 OI-pasienter. I de fleste tilfeller skyldes OI mutasjoner i ett av to gener, COL1A1 og COL1A2, som koder for α-kjedene i kollagen type 1, hovedproteinet i beinvevets ekstracellulære matriks, og arvegangen er autosomal dominant. Symptomer og funn ved OI kan være beinskjørhet og deformiteter, kortvoksthet, blåe scler...

  3. Osteogenesis imperfecta: an atypical association

    Directory of Open Access Journals (Sweden)

    Snehal Mallakmir

    2015-06-01

    Full Text Available Osteogenesis Imperfecta (OI also known as and lsquo;brittle bone disease', is a clinically heterogeneous connective tissue disorder with defect in type I collagen. The more prevalent autosomal dominant forms of OI are caused by primary defects in type I collagen, while autosomal recessive forms are caused by deficiency of proteins which interact with type I procollagen for post-translational modification and/or folding. Few cases of OI associated with atypical features have been reported. We report a case of 54 days male child of OI associated with pyloric stenosis. The case probably is a form of autosomal recessive OI with severe phenotype. [Int J Res Med Sci 2015; 3(3.000: 783-785

  4. Traumatic and spontaneous scleral rupture and uveal prolapse in osteogenesis imperfecta.

    Science.gov (United States)

    Pirouzian, Amir; O'Halloran, Henry; Scher, Colin; Jockin, Yvett; Yaghmai, Reza

    2007-01-01

    Three cases of severe globe injuries due to scleral fragility in osteogenesis imperfecta patients between the ages of 4 and 15 years are reported. Patient 1 had complete loss of vision. Patients 2 and 3 suffered non-sight-threatening scleral perforation. All 3 patients had no previous knowledge of recommendation for eyewear protection. PMID:17913179

  5. An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.

    Science.gov (United States)

    Mackenroth, Luisa; Fischer-Zirnsak, Björn; Egerer, Johannes; Hecht, Jochen; Kallinich, Tilmann; Stenzel, Werner; Spors, Birgit; von Moers, Arpad; Mundlos, Stefan; Kornak, Uwe; Gerhold, Kerstin; Horn, Denise

    2016-04-01

    Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are variable genetic disorders that overlap in different ways [Cole 1993; Grahame 1999]. Here, we describe a boy presenting with severe muscular hypotonia, multiple fractures, and joint hyperflexibility, features that are compatible with mild OI and hypermobility type EDS, respectively. By whole exome sequencing, we identified both a COL1A1 mutation (c.4006-1G > A) inherited from the patient's mildly affected mother and biallelic missense variants in TNXB (p.Val1213Ile, p.Gly2592Ser). Analysis of cDNA showed that the COL1A1 splice site mutation led to intron retention causing a frameshift (p.Phe1336Valfs*72). Type 1 collagen secretion by the patient's skin fibroblasts was reduced. Immunostaining of a muscle biopsy obtained from the patient revealed a clear reduction of tenascin-X in the extracellular matrix compared to a healthy control. These findings imply that the combination of the COL1A1 mutation with the TNXB variants might cause the patient's unique phenotype. PMID:26799614

  6. The dynamics of DNA methylation and hydroxymethylation during amelogenesis.

    Science.gov (United States)

    Yoshioka, Hirotaka; Minamizaki, Tomoko; Yoshiko, Yuji

    2015-11-01

    Amelogenesis is a multistep process that relies on specific temporal and spatial signaling networks between the dental epithelium and mesenchymal tissues. Epigenetic modifications of key developmental genes in this process may be closely linked to a network of molecular events. However, the role of epigenetic regulation in amelogenesis remains unclear. Here, we have uncovered the spatial distributions of 5-methylcytosine (5-mC) and 5-hydroxymethylcytosine (5-hmC) to determine epigenetic events in the mandibular incisors of mice. Immunohistochemistry and dot blotting showed that 5-hmC in ameloblasts increased from the secretory stage to the later maturation stage. We also demonstrated the distribution of 5-mC-positive ameloblasts with punctate nuclear labeling from sometime after the initiation of the secretory stage to the later maturation stage; however, dot blotting failed to detect this change. No obvious alteration of 5-mC/5-hmC staining in odontoblasts and dental pulp cells was observed. Concomitant with quantitative expression data, immunohistochemistry showed that maintenance DNA methyltransferase DNMT1 was highly expressed in immature dental epithelial cells and subsequently decreased at later stages of development. Meanwhile, de novo DNA methyltransferase Dnmt3a and Dnmt3b and DNA demethylase Tet family genes were universally expressed, except Tet1 that was highly expressed in immature dental epithelial cells. Thus, DNMT1 may sustain the undifferentiated status of dental epithelial cells through the maintenance of DNA methylation, while the hydroxylation of 5-mC may occur through the whole differentiation process by TET activity. Taken together, these data indicate that the dynamic changes of 5-mC and 5-hmC may be critical for the regulation of amelogenesis. PMID:26209269

  7. Fixed Restoration of Amelogenesis Imperfecta%遗传性牙釉质发育不全固定修复

    Institute of Scientific and Technical Information of China (English)

    樊弘毅; 李晓箐; 高姗姗; 卿萍; 于海洋

    2012-01-01

    Objective:To study the characteristics of occlusion in patients with amclogcncsis impcrfecta and to investigate criteria for diagnosing and treating them with the aim of recovering their chewing functions. Methods: A treatment plan was made after complete oral evaluation. Then a transitional prosthesis was applied to the patient for a period (two or three months) of observation. When a proper occlusal position was confirmed, treated patients with fixed prosthesis. Results: Activity of tcm-poromandibular joints were stable and facial appearance was improved significantly. Conclusions: An appropriate design of fixed partial denture* accurate teeth reconstruction, establishment of a proper vertical dimension of occlusion, and the use of transient denture were important for acceptable facial appearance.%目的:研究遗传性牙釉质发育不全患者的咬合关系特点与诊治方法.方法:运用口腔固定修复技术对患者进行咬合重建.确定颌位关系后戴暂时性垫2~3个月,恢复到最适颌位之后行固定义齿修复.结果:患者的颞下颌关节活动稳定,咬合关系基本正常,且固定修复后患者的容貌有明显改观.结论:采用固定修复方法治疗遗传性牙釉质发育不全患者的咬合紊乱,进行咬合重建的效果令人满意.

  8. Clinical manifestations and dental management of dentinogenesis imperfecta associated with osteogenesis imperfecta: Case report

    OpenAIRE

    Abukabbos, Halima; Al-Sineedi, Faisal

    2013-01-01

    Dentinogenesis imperfecta (DI) associated with osteogenesis imperfecta (OI) is a genetic disorder that affects the connective tissues and results in dentine dysplasia. This case report discusses the systemic and dental manifestations of OI and DI in a 4-year-old child, with moderate presentation of both disorders, who was treated at King Fahd Military Medical Complex in Dhahran. Dental treatment included the use of strip and stainless-steel crowns under local anesthesia, as well as behavior m...

  9. Osteogenesis imperfecta with joint contractures: Bruck syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Blacksin, M.F. [Department of Radiology, University of Medicine and Dentistry of New Jersey, 150 Bergen St., Rm. C320, Newark, NJ 07103-2426 (United States); Pletcher, B.A. [Center for Human and Molecular Genetics, Department of Pediatrics, University of Medicine and Dentistry of New Jersey, Newark, New Jersey (United States); David, M. [Department of Radiology, Newark-Beth Israel Medical Center, Newark, New Jersey (United States)

    1998-02-01

    We describe an Egyptian boy with osteogenesis imperfecta who was born with thumb contractures and bilateral antecubital pterygia. He was seen at 16 months of age with femur and tibial fractures, thoracic vertebral compression fractures, scoliosis and Wormian bones. The findings are consistent with a diagnosis of Bruck syndrome. (orig.) With 1 fig., 5 refs.

  10. Osteogenesis imperfecta with joint contractures: Bruck syndrome

    International Nuclear Information System (INIS)

    We describe an Egyptian boy with osteogenesis imperfecta who was born with thumb contractures and bilateral antecubital pterygia. He was seen at 16 months of age with femur and tibial fractures, thoracic vertebral compression fractures, scoliosis and Wormian bones. The findings are consistent with a diagnosis of Bruck syndrome. (orig.)

  11. Cardiovascular Involvement in Children with Osteogenesis Imperfecta

    Directory of Open Access Journals (Sweden)

    Gholamhossein Amirhakimi

    2013-10-01

    Full Text Available Objective: Osteogenesis imperfecta is a hereditary disease resulting from mutation in type I procollagen genes. One of the extra skeletal manifestations of this disease is cardiac involvement. The prevalence of cardiac involvement is still unknown in the children with osteogenesis imperfecta. The present study aimed to investigate the prevalence of cardiovascular abnormalities in these patients.Methods: 24 children with osteogenesis imperfecta and 24 normal children who were matched with the patients regarding sex and age were studied. In both groups, standard echocardiography was performed, and heart valves were investigated. Dimensions of left ventricle, aorta annulus, sinotubular junction, ascending and descending aorta were measured and compared between the two groups.Findings: The results revealed no significant difference between the two groups regarding age, sex, ejection fraction, shortening fraction, mean of aorta annulus, sinotubular junction, ascending and descending aorta, but after correction based on the body surface area, dimensions of aorta annulus, sinotubular junction, ascending and descending aorta in the patients were significantly higher than those in the control group (P25 mmHg and one patient had pulmonary insufficiency with indirect evidence of pulmonary hypertension. According to Z scores of aorta annulus, sinotubular junction and ascending aorta, 5, 3, and 1 out of 24 patients had Z scores >2 respectively.Conclusion: The prevalence of valvular heart diseases and aortic root dilation was higher in children with osteogenesis imperfecta. In conclusion, cardiovascular investigation is recommended in these children

  12. Immunocytochemical Detection of Dentin Matrix Proteins in Primary Teeth from Patients with Dentinogenesis Imperfecta Associated with Osteogenesis Imperfecta

    OpenAIRE

    G Orsini; Majorana, A; Mazzoni, A.; Putignano, A; Falconi, M; Polimeni, A.; Breschi, L.

    2014-01-01

    Dentinogenesis imperfecta determines structural alterations of the collagen structure still not completely elucidated. Immunohistochemical analysis was used to assay Type I and VI collagen, various non-collagenous proteins distribution in human primary teeth from healthy patients or from patients affected by type I dentinogenesis imperfecta (DGI-I) associated with osteogenesis imperfecta (OI). In sound primary teeth, an organized well-known ordered pattern of the type I collagen fibrils was f...

  13. Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene.

    Directory of Open Access Journals (Sweden)

    Hans U Luder

    Full Text Available Jalili syndrome denotes a recessively inherited combination of an eye disease (cone-rod dystrophy and a dental disorder (amelogenesis imperfecta, which is caused by mutations in the CNNM4 gene. Whereas the ophthalmic consequences of these mutations have been studied comprehensively, the dental phenotype has obtained less attention. A defective transport of magnesium ions by the photoreceptors of the retina is assumed to account for the progressive visual impairment. Since magnesium is also incorporated in the mineral of dental hard tissues, we hypothesized that magnesium concentrations in defective enamel resulting from mutations in CNNM4 would be abnormal, if a similar deficiency of magnesium transport also accounted for the amelogenesis imperfecta. Thus, a detailed analysis of the dental hard tissues was performed in two boys of Kosovan origin affected by Jalili syndrome. Retinal dystrophy of the patients was diagnosed by a comprehensive eye examination and full-field electroretinography. A mutational analysis revealed a c.1312 dupC homozygous mutation in CNNM4, a genetic defect which had already been identified in other Kosovan families and putatively results in loss-of-function of the protein. The evaluation of six primary teeth using light and scanning electron microscopy as well as energy-dispersive X-ray spectroscopy showed that dental enamel was thin and deficient in mineral, suggesting a hypoplastic/hypomineralized type of amelogenesis imperfecta. The reduced mineral density of enamel was accompanied by decreased amounts of calcium, but significantly elevated levels of magnesium. In dentin, however, a similar mineral deficiency was associated with reduced magnesium and normal calcium levels. It is concluded that the c.1312 dupC mutation of CNNM4 results in mineralization defects of both enamel and dentin, which are associated with significantly abnormal magnesium concentrations. Thus, we could not disprove the hypothesis that a

  14. Le cas clinique du mois. Osteogenesis imperfecta

    OpenAIRE

    Kaux, Jean-François; Le Goff, Caroline; Debray, François-Guillaume; Crielaard, Jean-Michel; Reginster, Jean-Yves

    2009-01-01

    We report the case of a young boy who had had multiple bone fractures (more than 10) since the age of 19 months. The father had the same clinical history. The clinical examination was normal for his age except blue sclera. The bone densitometry showed a severe osteoporosis for his age. Biological exam swere correct. The genetic exploration revealed mutation of COL1A2 gene. With this clinical history, the diagnosis of Osteogenesis imperfecta (OI) was retained. OI is a hereditary dystrophy with...

  15. Disease: H00615 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00615 Amelogenesis imperfecta Amelogenesis imperfecta represents a heterogeneous g... Lyroudia K Genes and related proteins involved in amelogenesis imperfecta. J Dent Res 84:1117-26 (2005) PMI...D:17408482 (description, gene) Crawford PJ, Aldred M, Bloch-Zupan A Amelogenesis imperfect...a. Orphanet J Rare Dis 2:17 (2007) PMID:3150442 (description) Witkop CJ Jr Amelogenesis imperfecta, dentinogenesis imperfect...se autosomal-recessive hypomaturation amelogenesis imperfecta. Am J Hum Genet 85:699-705 (2009) PMID:1825222

  16. DENTINOGENESIS IMPERFEC TA WITH OSTEOGENESIS IMPERFECTA: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Jesudass

    2015-03-01

    Full Text Available Dentinogegesis imperfecta (DI represents a group of hereditary conditions that are characterized by abnormal dentin formation. These conditions are genetically and clinically heterogenous and can affect only the teeth or can be associated with the condition Osteogegesis imperfecta . The Osteogegesis imperfecta (OI or the disease of fragile bones is a hereditary pathology affecting different tissues especially the bone. The teeth of DI cases wear more easily and excessively and also more susceptible to dental caries compa red to normal teeth. Early prosthodontic rehabilitation can prevent or delay the wear as well as loss of teeth in DI. Herewith, we present case report of 10yr old boy with discolored, severely attrited permanent teeth with sinus openings. A long with system ic abnormalities like blue sclera, bow legs, protruded sternum. The case was diagnosed as Dentinogegesis imperfecta type I and discussed in this case report.

  17. Disease: H00618 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00618 Amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (AIHHT) Amelogenesis imperfect... trait. Mouth and dental disease DLX3 [HSA:1747] [KO:K09315] Amelogenesis imperfecta and trichodentoosseous ...ns involved in amelogenesis imperfecta. J Dent Res 84:1117-26 (2005) PMID:17408482 (description, gene) Crawf...ord PJ, Aldred M, Bloch-Zupan A Amelogenesis imperfecta. Orphanet J Rare Dis 2:17 (2007) PMID:17552940 (desc...lla M, MacDougall M DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. Am J Med Genet A 133A:138-41 (2005) ...

  18. Surgical technique of double valve replacement in a patient with osteogenesis imperfecta.

    Science.gov (United States)

    Sumi, Mizuki; Ariyoshi, Tsuneo; Matsukuma, Seiji; Nakaji, Shun; Hashizume, Koji; Kinoshita, Naoe; Eishi, Kiyoyuki

    2016-04-01

    Osteogenesis imperfecta (OI) is an inherited connective tissue disorder. Left ventricle dilation and valve insufficiency are complications in patients with OI and such patients are at high risk of mortality and complications related to bleeding and tissue friability during cardiac surgery. Valve dehiscence due to extreme friability of the annulus is a major complication of cardiac valve replacement with OI. We describe OI in a male patient who underwent double valve replacement with mechanical valves using a tissue protective method to prevent valve dehiscence. PMID:25028093

  19. GEP, a Local Growth Factor, is Critical for Odontogenesis and Amelogenesis

    Directory of Open Access Journals (Sweden)

    Zhengguo Cao, Baichun Jiang, Yixia Xie, Chuan-ju Liu, Jian Q. Feng

    2010-01-01

    Full Text Available Granulin epithelin precursor (GEP is a new growth factor that functions in brain development, chondrogenesis, tissue regeneration, tumorigenesis, and inflammation. The goal of this study was to study whether GEP was critical for odontogenesis and amelogenesis both in vivo and in vitro. The in situ hybridization and immunohistochemistry data showed that GEP was expressed in both odontoblast and ameloblast cells postnatally. Knockdown of GEP by crossing U6-ploxPneo-GEP and Sox2-Cre transgenic mice led to a reduction of dentin thickness, an increase in predentin thickness, and a reduction in mineral content in enamel. The in vitro application of recombinant GEP up-regulated molecular markers important for odontogenesis (DMP1, DSPP, and ALP and amelogenesis (ameloblastin, amelogenin and enamelin. In conclusion, both the in vivo and the in vivo data support an important role of GEP in tooth formation during postnatal development.

  20. GEP, a Local Growth Factor, is Critical for Odontogenesis and Amelogenesis

    OpenAIRE

    Zhengguo Cao, Baichun Jiang, Yixia Xie, Chuan-ju Liu, Jian Q. Feng

    2010-01-01

    Granulin epithelin precursor (GEP) is a new growth factor that functions in brain development, chondrogenesis, tissue regeneration, tumorigenesis, and inflammation. The goal of this study was to study whether GEP was critical for odontogenesis and amelogenesis both in vivo and in vitro. The in situ hybridization and immunohistochemistry data showed that GEP was expressed in both odontoblast and ameloblast cells postnatally. Knockdown of GEP by crossing U6-ploxPneo-GEP and Sox2-Cre transgenic ...

  1. El poder en la paz imperfecta y en Foucault

    Directory of Open Access Journals (Sweden)

    Cássia M. Rosato

    2012-04-01

    Full Text Available Este trabajo debate el concepto de poder en la paz imperfecta y en la obra de Foucault. El objetivo principal es demostrar que la perspectiva foucaultiana del poder no está lejos de la noción de poder en la paz imperfecta propuesta por Muñoz. Para tanto, ese artículo empieza con la idea de paz de UNESCO y el contexto sociopolítico que favoreció el surgimiento de esa concepción. Enseguida, presenta características de la paz imperfecta, así como el concepto de poder está inserido en esta proposición y en Foucault. Al final, apunta tres semejanzas y/o aproximaciones existentes entre ambas las orientaciones que confirman su cercanía.

  2. Clinical manifestations and dental management of dentinogenesis imperfecta associated with osteogenesis imperfecta: Case report.

    Science.gov (United States)

    Abukabbos, Halima; Al-Sineedi, Faisal

    2013-10-01

    Dentinogenesis imperfecta (DI) associated with osteogenesis imperfecta (OI) is a genetic disorder that affects the connective tissues and results in dentine dysplasia. This case report discusses the systemic and dental manifestations of OI and DI in a 4-year-old child, with moderate presentation of both disorders, who was treated at King Fahd Military Medical Complex in Dhahran. Dental treatment included the use of strip and stainless-steel crowns under local anesthesia, as well as behavior modification techniques. Rigorous home care instructions, including reinforcement of the oral hygiene practice and avoidance of any episode that may lead to bone fracture, were discussed with the parents. The case was reevaluated at 3-month follow-up visits, wherein the medical and dental histories were updated, the child's growth was monitored, periodic clinical and radiographic examinations were performed, and the oral hygiene was evaluated via the debris index score and caries risk assessment. Further treatment of the permanent dentition may be needed in the future. PMID:24371383

  3. Prenatal diagnosis of lethal osteogenesis imperfecta in twin pregnancy.

    Science.gov (United States)

    Morin, L R; Herlicoviez, M; Loisel, J C; Jacob, B; Feuilly, C; Stanescu, V

    1991-06-01

    Lethal osteogenesis imperfecta was diagnosed at 27 weeks amenorrea in one fetus of a bichorial twin pregnancy. Sonographic findings included: short-limb dwarfism, hypotrophy and hypoechoic bones. The affected fetus was so translucent that only the normal fetus could be seen on plain in utero radiography. The affected fetus died immediately after birth. Postmortem radiography and histology were typical of lethal osteogenesis imperfecta of type IIA. Aids to the etiological diagnosis of in utero dwarfism are presented. Sonographic features correlated with neonatal death are described. PMID:1863995

  4. Pseudomass of the sternal manubrium in osteogenesis imperfecta

    International Nuclear Information System (INIS)

    Skeletal abnormalities such as hypertrophic callus formation and ''popcorn'' calcifications are rare radiological findings of osteogenesis imperfecta, causing tumor-like appearances on imaging. We report on a 7-year-old girl with osteogenesis imperfecta presenting with hepatomegaly and palpable lymphadenopathy in the left inguinal region on physical examination. Computed tomography examination revealed a high-density mass-like lesion of the manubrium sterni. Ultrasonography and a lateral roentgenogram of the chest verified that this was a pseudomass caused by a bowed sternal manubrium. (orig.)

  5. A rare case of Osteogenesis Imperfecta Type III

    Directory of Open Access Journals (Sweden)

    Nagaraj MV, Jehangir HM

    2014-03-01

    Full Text Available Osteogenesis imperfecta (OI the most common genetic cause of osteoporosis is a generalized disorder of connective tissue, characterized by increased bone fragility, low bone mass, recurrent fractures & numerous extra-osseous features with unusual presentations. We report a case of 7 year old female child presenting with respiratory distress with bowing of limb. This case is presented for its rarity.

  6. Radiation therapy of hyperplastic heterotopic ossifications in osteogenesis imperfecta

    International Nuclear Information System (INIS)

    Purpose: Osteogenesis imperfecta is a rare hereditary disease of connective tissue with a genetic defect in collagen synthesis. In osteogenesis imperfecta hyperplastic heterotopic ossification can be induced by hyperplastic callus formation caused by trauma or operation. Heterotopic ossifications can be found in numerous benign diseases. The successful use of low dose radiotherapy in the treatment of heterotopic ossifications in well-known from the literature. Patients and Methods: We treated two children (a 13-year old girl and a ten-year old boy) with heterotopic ossifications of the lower extremities in osteogenesis imperfecta type IV (Lobstein) with a low dose irradiation (10x1 Gy, respectively 6x1 Gy) under megavoltage conditions. Results: After radiotherapy the children were painfree and the hyperplastic callus was considerably reduced. The previously immobilized patients could partly be mobilized. Thereby it could be contributed to the rehabilitation of the patients. New hyperplastic callus formation was not observed in the irradiated areas so far. Conclusion: Analogous to the successful radiation of heterotopic ossifications in other benign diseases radiation therapy seems to be a successful treatment of hyperplastic callus formation in osteogenesis imperfecta. Despite the late risks of radiotherapy radiation treatment of benign diseases in children might be indicated. (orig.)

  7. A Case Report for a Complex Denture Case on a Special Care Patient with Osteogenesis Imperfecta.

    Science.gov (United States)

    Sawyer, Colin; Drysdale, David

    2015-05-01

    This case report presents a patient with Dentogenesis Imperfecta (DI) associated with Osteogenesis Imperfecta (OI) and its subsequent dental manifestations. The patient in this report (see Figure 1) has spent his life living with his disability type III OI (also known as brittle bone disease) and its degenerative affects. The patient is independent and enjoys his social life but felt his existing dentures were having an adverse effect on the quality of his life. The patient attended Dorset County Hospitals Special Care Dentistry and on clinical examination it was noted the patient was partially dentate with a class III malocclusion and brownish discoloration of the remaining teeth caused by enamel hypoplasia. Treatment for this patient would entail making a maxillary complete denture and a mandibular partial chrome denture, normally quite simple tasks but due to the DI and its dental manifestations, the treatment would be complicated. This case demonstrates how a complex case treated by a collaborative dental team using their different skills and knowledge can lead to a successful and rewarding treatment for both patient and team. PMID:26556263

  8. A CASE OF OSTEOGENESIS IMPERFECTA WITH S IGNIFICANT DISABILITY

    Directory of Open Access Journals (Sweden)

    Sahana

    2014-01-01

    Full Text Available Osteogenesis imperfecta (OI is a rare genetic disorder characterized by structural and quantitative defects in type 1 collagen resulting in susceptibility to fractures of long bones or vertebral compressions from mild or inconsequential trauma 1 .There are different types that range in seve rity from mild form to perinatal lethal form. We present a case of type 3 osteogenesis imperfect with multiple fractures , severe short stature and severe disability who survived till 5 years of age.

  9. Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification

    OpenAIRE

    De La Dure-Molla, Muriel; Philippe Fournier, Benjamin; Berdal, Ariane

    2014-01-01

    Dentinogenesis imperfecta is an autosomal dominant disease characterized by severe hypomineralization of dentin and altered dentin structure. Dentin extra cellular matrix is composed of 90% of collagen type I and 10% of non-collagenous proteins among which dentin sialoprotein (DSP), dentin glycoprotein (DGP) and dentin phosphoprotein (DPP) are crucial in dentinogenesis. These proteins are encoded by a single gene: dentin sialophosphoprotein (DSPP) and undergo several post-translational modifi...

  10. Anesthetic Management in a Gravida with Type IV Osteogenesis Imperfecta

    Science.gov (United States)

    Vue, Elizabeth; Davila, Juan

    2016-01-01

    Osteogenesis imperfecta (OI) is an inherited disorder of the connective tissues caused by abnormalities in collagen formation. OI may present many challenges to the anesthesiologist. A literature review reveals a wide range of implications, from basic positioning to management of the difficult airway. We present the anesthetic management of a 25-year-old gravid woman with OI, fetal demise, and possible uterine rupture, admitted for an exploratory laparotomy.

  11. Osteogenesis imperfecta (lethal) bones contain types III and V collagens.

    OpenAIRE

    Pope, F. M.; Nicholls, A. C.; Eggleton, C; Narcissi, P; Hey, E N; Parkin, J M

    1980-01-01

    Lethal osteogenesis imperfecta (OI-L) and normal fetal bones contain types I and V collagen with relatively more type V in OI-L bones. The latter, unlike normal fetal bone, also contain some type III collagen. Such altered collagen ratios could directly produce the bony fragility and radiotranslucency of OI-L bones. Since this is an inherited osteoporosis similar alterations in acquired osteoporoses are also possible.

  12. What is new in genetics and osteogenesis imperfecta classification?

    OpenAIRE

    2014-01-01

    OBJECTIVE: Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification. SOURCES: Literature review in the PubMed and OMIM databases, followed by selection of relevant references. SUMMARY OF THE FINDINGS: In 1979, Sillence et al. developed a classification of OI subtypes based on clinical features and disease severity: OI type I, mild, common, with blue sclera; OI type II, perinatal lethal form; OI type III, severe and progressively deformin...

  13. Infantile-onset glaucoma and anterior megalophthalmos in osteogenesis imperfecta.

    Science.gov (United States)

    Bohnsack, Brenda L

    2016-04-01

    Osteogenesis imperfecta (OI) is an inherited condition in which defects in type 1 collagen cause abnormalities in many tissues and organs, including bone, teeth, heart valves, and eyes. We describe a 6-month-old boy with OI who presented with anterior megalophthalmos of the right eye and infantile-onset glaucoma of the left eye. To our knowledge, this is the first reported case of these types of congenital eye anomalies in an infant with OI. PMID:26994503

  14. Atypical femoral fracture in an osteogenesis imperfecta patient successfully treated with teriparatide

    DEFF Research Database (Denmark)

    Holm, Jakob; Eiken, Pia; Hyldstrup, Lars; Jensen, Jens-Erik Beck

    2014-01-01

    OBJECTIVE: We report a case of a successfully healed atypical femoral fracture (AFF) following treatment with teriparatide in a patient with osteogenesis imperfecta (OI). To our knowledge, no successful treatment of AFFs with teriparatide in this subpopulation has ever been described. METHODS: This...... is a case report of an AFF treated with teriparatide. RESULTS: The patient was treated with hormone replacement therapy for 18 years and bisphosphonates for 9 years before suffering a spontaneous AFF in the form of a dislocated noncomminute transverse fracture of the right femoral shaft, and an open...... reduction and internal fixation (ORIF) with a T2 Femoral Nail was done. Due to nonunion and another fracture distal to the nail, the patient was reoperated on with exchange ORIF and off-label treatment with teriparatide 20 μg/day was started. An X-ray 1 month later showed early signs of fracture healing. A...

  15. Osteogenesis imperfecta type III in South Africa: Psychosocial challenges.

    Science.gov (United States)

    Stephen, L X G; Roberts, T; Van Hayden, E; Chetty, M

    2016-01-01

    Individuals with osteogenesis imperfecta type III (OI III) are severely physically disabled due to frequent fracturing. Their disability poses numerous barriers that challenge their social development. Despite these limitations, several affected persons are able to rise above these problems and achieve success in their personal and professional life. This outcome is directly relevant to their psychosocial development.The achievements of five individuals with OI III living in Cape Town are highlighted in this article, as well as the challenges that they have experienced and continue to experience in their daily lives. The authors intend to promulgate understanding of the psychosocial circumstances of affected persons, thereby facilitating the deployment of appropriate efforts and resources to address these challenges. PMID:27245537

  16. Distinctive tomographic abnormalities of the craniocervical region in a patient with osteogenesis imperfecta type IV B

    International Nuclear Information System (INIS)

    Osteogenesis imperfecta is a clinically and genetically heterogeneous group of heritable disorders of connective tissue characterized by reduced bone mass (osteopenia) with associated bone fragility. The resulting skeletal manifestations are due to a generalized deficiency in the development of both membranous and endochondral bone and include markedly thin calvarium with delayed closure of the fontanelles and the sutures and excessive Wormian bone formation. Sillence et al. developed a classification system of OI subtypes: OI type I, which is characterised by blue sclerae; perinatal lethal OI type II, also known as congenital OI; OI type III, a progressively deforming subtype with normal sclera; and OI type IV, which is characterized by a normal sclera. Levin et al. have suggested that OI subtypes could be further divided into type A and B based on the absence or presence of dentinogenesis imperfecta. Basilar impression involves the upward (vertical) migration of the odontoid process into the foramen magnum with a depression in the cranium. Basilar impression is a developmental defect and refers to the infolding of the occipital condyles, an elevation of the clivus, and the posterior cranial fossa of the skull. The soft bones of the skull base allow for progressive infolding of the dysplastic clivus and translocation of the odontoid into the posterior fossa. The combination of platybasia and basilar impression can lead to severe distortion of the spinal cord and the anterior brain stem. The specific structures that can be involved include the upper cervical cord, medulla, pons, mid-brain, cerebellum, as well as the vertebrobasilar system. (author)

  17. Distinctive tomographic abnormalities of the craniocervical region in a patient with osteogenesis imperfecta type IV B

    Energy Technology Data Exchange (ETDEWEB)

    Kaissi, Ali Al; Klaushofer, Klaus, E-mail: ali.alkaissi@osteologie.a [Ludwig Boltzmann Institute of Osteology, Vienna (Austria); Grill, Franz [Orthopaedic Hospital of Speising, Vienna (Austria). Paediatric Dept.

    2010-07-01

    Osteogenesis imperfecta is a clinically and genetically heterogeneous group of heritable disorders of connective tissue characterized by reduced bone mass (osteopenia) with associated bone fragility. The resulting skeletal manifestations are due to a generalized deficiency in the development of both membranous and endochondral bone and include markedly thin calvarium with delayed closure of the fontanelles and the sutures and excessive Wormian bone formation. Sillence et al. developed a classification system of OI subtypes: OI type I, which is characterised by blue sclerae; perinatal lethal OI type II, also known as congenital OI; OI type III, a progressively deforming subtype with normal sclera; and OI type IV, which is characterized by a normal sclera. Levin et al. have suggested that OI subtypes could be further divided into type A and B based on the absence or presence of dentinogenesis imperfecta. Basilar impression involves the upward (vertical) migration of the odontoid process into the foramen magnum with a depression in the cranium. Basilar impression is a developmental defect and refers to the infolding of the occipital condyles, an elevation of the clivus, and the posterior cranial fossa of the skull. The soft bones of the skull base allow for progressive infolding of the dysplastic clivus and translocation of the odontoid into the posterior fossa. The combination of platybasia and basilar impression can lead to severe distortion of the spinal cord and the anterior brain stem. The specific structures that can be involved include the upper cervical cord, medulla, pons, mid-brain, cerebellum, as well as the vertebrobasilar system. (author)

  18. Osteogenesis imperfecta: radiological view on the pediatric patient

    International Nuclear Information System (INIS)

    Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder of bone and connective tissue characterized by osteoporosis, fragile bones, hyper extensible joints, dentinogenesis imperfecta, bluish coloration of the sclerae, and adult-onset hearing loss. Detailed medical history, careful physical examination, radiographic features of fractures, and biochemical analysis of skin collagen are the four cornerstones of accurate diagnosis. A radiology specialist should be aware of subtle changes seen on radiographs as well as of specific osteogenesis features (i.e. popcorn calcifications) and difficult differential diagnosis (i.e. hypertrophic callus formation versus osteosarcoma; child abuse fractures versus true osteogenesis imperfecta). About 300 different mutations have been identified within COL1A1 and COL1A2 genes that encode the chains of type I collagen. Depending on the location of the mutation within the collagen gene, these produce a variety of clinical pictures which range from mild OI type I, lethal OI type II to severely deforming OI type III and mildly deforming OI type IV, OI type V is moderate in severity and it is similar to OI type IV, OI type VI is extremely rare and two recessive types of OI, types VII and VIII, were identified in 2006. Each of the eight types has a common radiologic appearance that helps in establishing the diagnosis. The purpose of this article is to give an as comprehensive as possible review of the radiological picture of OI in pediatric patients. Special emphasis will be given to specific radiological prognostic features as well as to the differential diagnosis. (author)

  19. Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia

    OpenAIRE

    MacKie Iain; McDonnell Sinead T; Barron Martin J; Dixon Michael J

    2008-01-01

    Abstract The hereditary dentine disorders, dentinogenesis imperfecta (DGI) and dentine dysplasia (DD), comprise a group of autosomal dominant genetic conditions characterised by abnormal dentine structure affecting either the primary or both the primary and secondary dentitions. DGI is reported to have an incidence of 1 in 6,000 to 1 in 8,000, whereas that of DD type 1 is 1 in 100,000. Clinically, the teeth are discoloured and show structural defects such as bulbous crowns and small pulp cham...

  20. Collagen-derived markers of bone metabolism in osteogenesis imperfecta

    DEFF Research Database (Denmark)

    Lund, A M; Hansen, M; Kollerup, Gina Birgitte; Juul, A; Teisner, Børge; Skovby, F

    1998-01-01

    )] were measured in 78 osteogenesis imperfecta (OI) patients to investigate bone metabolism in vivo and relate marker concentrations to phenotype and in vitro collagen I defects, as shown by sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE). PICP and PINP were generally low, and the...... in vivo findings correlated with in vitro results of collagen I SDS-PAGE. Bone turnover is reduced in OI children and mildly affected OI adults, whereas bone resorption is elevated in severely affected adults. These findings may prove helpful for diagnosis and decision-making regarding therapy in OI....

  1. MRI-visible pericochlear lesions in osteogenesis imperfecta type I

    International Nuclear Information System (INIS)

    Osteogenesis imperfecta (OI) is an inherited generalized disorder of type-I collagen synthesis often associated with hearing loss. We present a case of OI type I in which hearing loss led to examination of the temporal bone with MRI. In the osseous otic capsule MRI demonstrated pericochlear lesions with soft tissue signal intensity and contrast enhancement. Changes similar to otosclerosis have been described in the temporal bone of OI patients when applying CT, but reports on MRI findings do not yet exist. (orig.)

  2. Recent developments in osteogenesis imperfecta [version 1; referees: 3 approved

    Directory of Open Access Journals (Sweden)

    Joseph L. Shaker

    2015-09-01

    Full Text Available Osteogenesis imperfecta (OI is an uncommon genetic bone disease associated with brittle bones and fractures in children and adults. Although OI is most commonly associated with mutations of the genes for type I collagen, many other genes (some associated with type I collagen processing have now been identified. The genetics of OI and advances in our understanding of the biomechanical properties of OI bone are reviewed in this article. Treatment includes physiotherapy, fall prevention, and sometimes orthopedic procedures. In this brief review, we will also discuss current understanding of pharmacologic therapies for treatment of OI.

  3. Clinical perspectives on osteogenesis imperfecta versus non-accidental injury.

    Science.gov (United States)

    Pereira, Elaine Maria

    2015-12-01

    Although non-accidental injuries (NAI) are more common in cases of unexplained fractures than rare disorders such as osteogenesis imperfecta (OI), ruling out OI and other medical causes of fracture is always indicated. The majority of OI patients can be diagnosed with the help of family history, physical examination, and radiographic findings. In particular, there are a few radiological findings which are seen more commonly in NAI than in OI which may help guide clinician considerations regarding the probability of either of these diagnoses. At the same time, molecular testing still merits careful consideration in cases with unexplained fractures without obvious additional signs of abuse. PMID:26492946

  4. Clinical Aspects, Imaging Features, and Considerations on Bisphosphonate-Related Osteonecrosis Risk in a Pediatric Patient with Osteogenesis Imperfecta

    Directory of Open Access Journals (Sweden)

    Fábio Wildson Gurgel Costa

    2014-01-01

    Full Text Available Osteogenesis imperfecta (OI is a rare hereditary condition caused by changes in collagen metabolism. It is classified into four types according to clinical, genetic, and radiological criteria. Clinically, bone fragility, short stature, blue sclerae, and locomotion difficulties may be observed in this disease. OI is often associated to severe dental problems, such as dentinogenesis imperfecta (DI and malocclusions. Radiographically, affected teeth may have crowns with bulbous appearance, accentuated constriction in the cementoenamel junction, narrowed roots, large root canals due to defective dentin formation, and taurodontism (enlarged pulp chambers. There is no definitive cure, but bisphosphonate therapy is reported to improve bone quality; however, there is a potential risk of bisphosphonate-related osteonecrosis of the jaw. In this study we report a case of OI in a male pediatric patient with no family history of OI who was receiving ongoing treatment with intravenous perfusion of bisphosphonate and who required dental surgery. In addition, we discussed the clinical and imaging findings and briefly reviewed the literature.

  5. Orthopaedic Considerations for the Adult With Osteogenesis Imperfecta.

    Science.gov (United States)

    Roberts, Timothy T; Cepela, Daniel J; Uhl, Richard L; Lozman, Jeffery

    2016-05-01

    Osteogenesis imperfecta is a heritable group of collagen-related disorders that affects up to 50,000 people in the United States. Although the disease is most symptomatic in childhood, adults with osteogenesis imperfecta also are affected by the sequelae of the disease. Orthopaedic manifestations include posttraumatic and accelerated degenerative joint disease, kyphoscoliosis, and spondylolisthesis. Other manifestations of abnormal collagen include brittle dentition, hearing loss, cardiac valve abnormalities, and basilar invagination. In general, nonsurgical treatment is preferred for management of acute fractures. High rates of malunion, nonunion, and subsequent deformity have been reported with both closed and open treatment. When surgery is necessary, surgeons should opt for load-sharing intramedullary devices that span the entire length of the bone; locking plates and excessively rigid fixation generally should be avoided. Arthroplasty may be considered for active patients, but the procedure frequently is associated with complications in this patient population. Underlying deformities, such as malunion, bowing, rotational malalignment, coxa vara, and acetabular protrusio, pose specific surgical challenges and underscore the importance of preoperative planning. PMID:27100300

  6. Osteogenesis Imperfecta in Adult Twins Responded To Treatment With Pamidronate

    Directory of Open Access Journals (Sweden)

    Mehtap Çakır

    2011-06-01

    Full Text Available Bisphosphonates are strong inhibitors of bone resorption and are used in the treatment of osteoporosis. Bisphosphonates are known to be effective in prevention of fractures, improvement of bone mineral density as well as in relieving bone pain in osteogenesis imperfecta (OI patients. Recent studies have shown that especially intravenous pamidronate may be more effective when given in childhood and adolescence. This effect was also shown in adult OI patients in some clinical trials.22-year-old twin brothers known to have OI were admitted to our endocrinology and metabolism outpatient clinic. On medical history, OI was diagnosed at the age of three and for the last eight years, they were not able to walk and were using wheelchairs. On physical examination, blue sclerae and dentinogenesis imperfecta were detected in both patients. According to the expanded Sillence classification of OI, the clinical findings were consistent with type IV OI. Intravenous pamidronate treatment was given three times at four-month intervals, according to Montreal protocol. During this period, the patients were also doing isometric exercises and were on physical therapy, diet, and bioresonance therapy.At the end of one year, bone pain regressed significantly in both patients and they were able to walk independently. These outcomes demonstrate that in selected adult OI patients, intravenous pamidronate treatment may be beneficial in preventing bone fractures and relieving pain. Türk Jem 2011; 15: 39-43

  7. Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V.

    Science.gov (United States)

    Brizola, Evelise; Mattos, Eduardo P; Ferrari, Jessica; Freire, Patricia O A; Germer, Raquel; Llerena, Juan C; Félix, Têmis M

    2015-10-01

    Osteogenesis imperfecta type V (OI-V) has a wide clinical variability, with distinct clinical/radiological features, such as calcification of the interosseous membrane (CIM) between the radius-ulna and/or tibia-fibula, hyperplastic callus (HPC) formation, dislocation of the radial head (DRH), and absence of dentinogenesis imperfecta (DI). Recently, a single heterozygous mutation (c.-14C>T) in the 5'UTR of the IFITM5 gene was identified to be causative for OI-V. Here, we describe 7 individuals from 5 unrelated families that carry the c.-14C>T IFITM5 mutation. The clinical findings in these cases are: absence of DI in all patients, presence of blue sclera in 2 cases, and 4 patients with DRH. Radiographic findings revealed HPC in 3 cases. All patients presented CIM between the radius and ulna, while 4 patients presented additional CIM between the tibia and fibula. Spinal fractures by vertebral compression were observed in all individuals. The proportion of cases identified with this mutation represents 4% of OI cases at our institution. The clinical identification of OI-V is crucial, as this mutation has an autosomal dominant inheritance with variable expressivity. PMID:26648832

  8. Basilar impression and osteogenesis imperfecta in a three-year-old girl: CT and MRI

    International Nuclear Information System (INIS)

    A 3-year-old girl with osteogenesis imperfecta developed symptomatic basilar impression. Her neurological symptoms were treated by foramen magnum decompression and laminectomy. This is an unusually young patient to have this condition. (orig.)

  9. Collagen-derived markers of bone metabolism in osteogenesis imperfecta

    DEFF Research Database (Denmark)

    Lund, A M; Hansen, M; Kollerup, Gina Birgitte;

    1998-01-01

    Markers of bone formation [C-terminal and N-terminal propeptides of procollagen I (PICP, PINP), osteocalcin and alkaline phosphatase] and bone resorption [C-terminal cross-linked telopeptide of collagen I (ICTP) and hydroxypyridinium cross-links, pyridinoline (Pyr) and deoxypyridinoline (Dpyr......)] were measured in 78 osteogenesis imperfecta (OI) patients to investigate bone metabolism in vivo and relate marker concentrations to phenotype and in vitro collagen I defects, as shown by sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE). PICP and PINP were generally low, and the...... serum levels were lower in all children and adults with mild OI and a quantitative collagen defect than in patients with severe OI and a qualitative collagen I defect. ICTP, Pyr and Dpyr were generally normal or reduced, but elevated in severely affected adults with a qualitative collagen I defect. The...

  10. Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta

    OpenAIRE

    Dogba, Maman Joyce; Rauch, Frank; Douglas, Erin; Bedos, Christophe

    2014-01-01

    Achondroplasia, Duchenne muscular dystrophy, and osteogenesis imperfecta are among the most frequent rare genetic disorders affecting the musculoskeletal system in children. Rare genetic disorders are severely disabling and can have substantial impacts on families, children, and on healthcare systems. This literature review aims to classify, summarize and compare these non-medical impacts of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta.

  11. Disease: H01015 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available ne-rod dystrophy and amelogenesis imperfecta. It is caused mutations in the CNNM4 gene that encodes a putati...mental disorder CNNM4 [HSA:26504] [KO:K16302] Cone-rod dystrophy and amelogenesis imperfect...consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet 84:266-73 (...2009) PMID:20706282 (descritpion) Jalili IK Cone-rod dystrophy and amelogenesis imperfect

  12. COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 3

    Directory of Open Access Journals (Sweden)

    Hrušková L

    2015-08-01

    Full Text Available Lucie Hrušková,1 Ivo Mařík,2,3 Stella Mazurová,1 Pavel Martásek,1 Ivan Mazura1 1Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic; 2Ambulant Centre for Defects of Locomotor Apparatus 1.1.c., Prague, Czech Republic; 3Faculty of Medical Studies, West Bohemia University, Pilsen, Czech RepublicAbstract: Osteogenesis imperfecta is a heritable bone fragility disease with a heterogenic genetic origin. Most cases result from mutations of either the COL1A1 gene or the COL1A2 gene. We identified a novel COL1A2 gene mutation in a Czech patient, born to unaffected parents, who was diagnosed according to clinical and anthropometric findings and radiographic features as having type 3 osteogenesis imperfecta, which is a severe form of this disease. The identified Gly814Trp mutation was predicted by a number of complementary bioinformatic programs to result in functional alteration of the protein. This case report provides both evidence of a novel COL1A2 mutation resulting in type 3 osteogenesis imperfecta and a genotype:phenotype correlation in this affected individual. Keywords: osteogenesis imperfecta type 3, collagen, alpha-2 (I chain, substitution, sequencing 

  13. Radiation therapy of hyperplastic heterotopic ossifications in osteogenesis imperfecta; Two case reports. Strahlentherapie hyperplastischer heterotoper Ossifikationen bei Osteogenesis imperfecta; Zwei Falldarstellungen

    Energy Technology Data Exchange (ETDEWEB)

    Micke, O. (Muenster Univ. (Germany). Klinik und Poliklinik fuer Strahlentherapie - Radioonkologie); Wagner, W. (Muenster Univ. (Germany). Klinik und Poliklinik fuer Strahlentherapie - Radioonkologie); Poetter, R. (Allgemeines Krankenhaus der Stadt Wien, Vienna (Austria). Universitaetsklinik fuer Strahlentherapie und Strahlenbiologie); Prott, F.J. (Muenster Univ. (Germany). Klinik und Poliklinik fuer Strahlentherapie - Radioonkologie); Karbowski, A. (Muenster Univ. (Germany). Klinik und Poliklinik fuer Allgemeine Orthopaedie)

    1994-06-01

    Purpose: Osteogenesis imperfecta is a rare hereditary disease of connective tissue with a genetic defect in collagen synthesis. In osteogenesis imperfecta hyperplastic heterotopic ossification can be induced by hyperplastic callus formation caused by trauma or operation. Heterotopic ossifications can be found in numerous benign diseases. The successful use of low dose radiotherapy in the treatment of heterotopic ossifications in well-known from the literature. Patients and Methods: We treated two children (a 13-year old girl and a ten-year old boy) with heterotopic ossifications of the lower extremities in osteogenesis imperfecta type IV (Lobstein) with a low dose irradiation (10x1 Gy, respectively 6x1 Gy) under megavoltage conditions. Results: After radiotherapy the children were painfree and the hyperplastic callus was considerably reduced. The previously immobilized patients could partly be mobilized. Thereby it could be contributed to the rehabilitation of the patients. New hyperplastic callus formation was not observed in the irradiated areas so far. Conclusion: Analogous to the successful radiation of heterotopic ossifications in other benign diseases radiation therapy seems to be a successful treatment of hyperplastic callus formation in osteogenesis imperfecta. Despite the late risks of radiotherapy radiation treatment of benign diseases in children might be indicated. (orig.)

  14. Multi-element analysis of bone from the osteogenesis imperfecta model (OIM) mouse using thermal and fast neutron activation analysis

    International Nuclear Information System (INIS)

    Osteogenesis imperfecta (OI) is a heritable osteoporotic bone disease, due to defects in either type I procollagen genes (COL1A1 or COL1A2), resulting in abnormal and/or reduced levels of type I procollagen and alterations in bone mineralization. Our long term objectives are to evaluate the impact of proα1(I) and proα2(I) collagen mutations and the role of the genetic background on bone mineralization. Tibias from wildtype, heterozygous (oim/+), and homozygous (oim/oim) animals were subjected to instrumental neutron activation analysis (INAA) to measure F, P, Na, Mg, Cl, Ca, K, and Zn using the University of Missouri Research Reactor (MURR) pneumatic-tube irradiation facility. (author)

  15. Changes in acid-phosphate content in enamel mineral during porcine amelogenesis.

    Science.gov (United States)

    Shimoda, S; Aoba, T; Moreno, E C

    1991-12-01

    The present study was undertaken to investigate changes in the acid-phosphate content of porcine enamel mineral during its development and to assess separately the HPO4(2-) pools in labile and stable forms. Enamel samples at the secretory and maturing stages of amelogenesis were obtained from the permanent incisors of five- to six-month-old slaughtered piglets. Human enamel from erupted, extracted teeth, synthetic hydroxyapatite, and carbonatoapatite containing acid phosphate were included as references. The acid-phosphate content of each sample was determined chemically through its pyrolytic conversion to pyrophosphate. The assessment of HPO4(2-) in labile forms was made by analysis of samples preequilibrated with solutions containing 3 mmol/L phosphate at pH11 (to de-protonate the HPO4(2-) species on crystal surfaces). The analytical results of porcine enamel samples showed that: (a) the outermost secretory (youngest) enamel contained the highest HPO4(2-), corresponding to about 16% of the total phosphate; (b) the acid-phosphate content decreased gradually to 10% in the inner (older) secretory and to 6% in the maturing tissue; (c) a substantial part of the HPO4(2-) in developing enamel tissue (50-60% of the HPO4(2-) for the secretory enamel) was in labile forms; and (d) the pool of the labile HPO4(2-) decreased with the growth of enamel mineral. In parallel studies with mature human enamel, it was ascertained that the total acid phosphate was only about 3% of the total phosphate, much lower than in developing porcine enamel, and that the labile pool of HPO4(2-) was also small, corresponding to about 15% of the total acid phosphate determined.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:1774383

  16. Osteogenesis Imperfecta Presented with Vertebral Fractures After Pregnancy and Treatment with Cyclical Etidronate: A Case Report

    Directory of Open Access Journals (Sweden)

    Cengiz Bahadır

    2005-06-01

    Full Text Available Osteogenesis imperfecta(OI is a kongenital skelatal disorder charecterized by low bone mass and increased bone fragility. Fractures due to increased bone fragility occur frequently in childhood and decrease with age. Only a few studies have been reported regarding the teratment of adult patients with OI. Our case was a 27 year old woman with severe back pain occured when she was lifting her baby. The patient had experienced multiple fractures of long bones by her childhood. Compression fractures at thoracal 10 and 12 vertebrae were found on Magnetic Resonance Imaging . Dual energy X-ray absorptiomety(DEXA showed that markedly decreased bone mineral density(BMD both at lumbar spine and femur. The diagnosis of OI type I was based on the findings of blue sclera, antecedent multiple fractures, positive family history and low bone mass. Patient was treated with cyclical etidronate, calcium and Vitamin D over a year. No new fractures were observed during the treatment period. Lomber and proximal femur BMD’s were found to be significantly increased at the end of one year. Our case was treated succesfully with combination of cyclical etidronate, calcium and vitamin D. Etidronate would seem to be available treatment for adult patients with OI. However, the best treatment regimen and the long-term outcomes of etidronate therapy are unknown.

  17. Second-trimester diagnosis of osteogenesis imperfecta associated with schizencephaly by sonography

    International Nuclear Information System (INIS)

    Osteogenesis imperfecta is congenital connective tissue disorder characterized with multiple bone fractures, short limbs, membranous calvarium with wormian bones and sometimes blue sclerae. Osteogenesis is rarely accompanied by other major malformations. Although associations with microcephaly congenital heart defects or anencephaly have been reported previously, association with schizencephaly was not found on literature review. We report a case of osteogenesis imperfecta associated with schizencephaly diagnosed at 21 weeks of gestation using 2-dimensional ultrasound. The present case shows that prenatal ultrasonographic examination is a very important tool to detect such intrauterine abnormalities in which, management of pregnancy would be changed significantly compared to normal pregnancies. (author)

  18. BRITTLE BONES, UNBREAKABLE SPIRIT: OSTEOGENESIS IMPERFECTA: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Subhra Mandal

    2015-03-01

    Full Text Available Osteogenesis imperfecta (OI, Fragilitis Ossium or Brittle bone disease is a group of rare inherited disorders with a broad spectrum of clinical and genetic variability. It is characterized by fragile bones that are prone to fracture often from mild trauma or with no apparent cause. People with OI are born with defective connective tissue or without the ability to make it, usually because of a deficiency of Type1 collagen. Incidence of OI is estimated to be one per twenty thousand live births. Eight types of OI can be distinguished. Most cases are caused by mutations in the COL1A1 and COL1A2 genes. We have reported a special case of OI, probably belonging to Type III group. The subject visited the PMR (Physical Medicine & Rehabilitation OPD of Bankura Sammilani medical college (BSMC, Bankura ,West Bengal, India.. The details of etiology, diagnosis, genetic causes and treatment will be discussed in the study. Diagnosis of OI is based on clinical features and may be confirmed by collagen or DNA testing. There is no cure for OI. Our management is aimed at increasing over all bone strength to prevent fracture and maintain mobility. Nevertheless, life style modifications by adaptive equipments, oral drugs (Bisphosphonates and Intramedullary rod insertions, provide a significant degree of autonomy to OI patients.

  19. Osteogenesis Imperfecta Type VI in Individuals from Northern Canada.

    Science.gov (United States)

    Ward, Leanne; Bardai, Ghalib; Moffatt, Pierre; Al-Jallad, Hadil; Trejo, Pamela; Glorieux, Francis H; Rauch, Frank

    2016-06-01

    Osteogenesis imperfecta (OI) type VI is a recessively inherited form of OI that is caused by mutations in SERPINF1, the gene coding for pigment-epithelium derived factor (PEDF). Here, we report on two apparently unrelated children with OI type VI who had the same unusual homozygous variant in intron 6 of SERPINF1 (c.787-10C>G). This variant created a novel splice site that led to the in-frame addition of three amino acids to PEDF (p.Lys262_Ile263insLeuSerGln). Western blotting showed that skin fibroblasts with this mutation produced PEDF but failed to secrete it. Both children were treated with intravenous bisphosphonates, but the treatment of Individual 1 was switched to subcutaneous injections of denosumab (dose 1 mg per kg body weight, repeated every 3 months). An iliac bone sample obtained after 5 denosumab injections (and 3 months after the last injection) showed no change in the increased osteoid parameters that are typical of OI type VI, but the number of osteoclasts in trabecular bone was markedly increased. This suggests that the effect of denosumab on osteoclast suppression is of shorter duration in children with OI type VI than what has previously been reported on adults with osteoporosis. PMID:26815784

  20. Prosthetic treatment in dentinogenesis imperfecta type II: a case report

    Directory of Open Access Journals (Sweden)

    Sedat Güven

    2016-05-01

    Full Text Available INTRODUCTION: Dentinogenesis imperfecta (DI or hereditary opalescent dentin is an autosomal dominant disorder affecting both primary and permanent dentition. Early diagnosis and treatment of DI is important for normal facial growth and esthetic continuity by preserving occlusion and tooth structure. It also provides psychological motivation by increasing the patient’s quality of life. Providing functional dentition in DI patients prevents loss of the vertical dimension, while enabling normal growth of the facial bones and jaw joint. CASE REPORT: A 20-year-old male with DI was referred to our clinic with chewing difficulty and esthetic and speech problems. His brother also had this disease. Oral examination showed the loss of many teeth and the absence of enamel on most of the remaining teeth, causing discoloration and exposing soft dentinal tissue with calcification disorder. Despite widespread attrition of the teeth, pulp chambers were not exposed. The tip of the lower jaw was prominent in the patient’s profile. Placing metal-ceramic fixed dentures in the lower jaw and an overdenture prosthesis in the upper jaw improved the patient’s psychological state as well as his function, phonation, and esthetics. CONCLUSION: This case report presents the intraoral findings in a patient with DI, including the histopathological findings, and the prosthetic treatment approach and the treatment outcome.

  1. Anestesia venosa total em paciente portador de Osteogênesis imperfecta: relato de caso Anestesia venosa total en paciente portador de Osteogénesis imperfecta: relato de caso Total intravenous anesthesia in Osteogenesis imperfecta patient: case report

    Directory of Open Access Journals (Sweden)

    José Francisco Nunes Pereira das Neves

    2004-10-01

    Full Text Available JUSTIFICATIVA E OBJETIVOS: A Osteogênesis Imperfecta é uma doença genética rara do tecido conjuntivo, com prevalência de 1/10000, que primariamente envolve a ossificação endocondral, resultando em ossos frágeis, múltiplas fraturas e deformidades esqueléticas. O objetivo desse artigo foi relatar um caso de paciente portador de Osteogenesis Imperfecta, submetido à anestesia venosa total para tratamento cirúrgico de fratura de fêmur. RELATO DO CASO: Paciente do sexo masculino, 15 anos, 41 kg, 140 cm, com história de Osteogênesis Imperfecta e cardiopatia, programado para tratamento cirúrgico de fratura do fêmur. Na sala de operação foi monitorizado com ECG, FC, PANI e SpO2 e submetido à anestesia geral venosa total com propofol, alfentanil e cisatracúrio. Após IOT, foi acrescentada monitorização da P ET CO2 e da temperatura esofágica. No período intra-operatório e na sala de recuperação pós-anestésica não apresentou complicações. Teve alta hospitalar no 5º dia de pós-operatório. CONCLUSÕES: O presente relato mostrou boa evolução intra e pós-operatória de paciente com Osteogênesis Imperfecta submetido à anestesia geral venosa total. A complexidade da doença mostrou a necessidade de avaliação e monitorização adequada pelo anestesiologista.JUSTIFICATIVA Y OBJETIVOS: La Osteogénesis Imperfecta es una rara enfermedad genética del tejido conjuntivo, con prevalencia de 1/10000, que primariamente envuelve la osificación endocondral, resultando en huesos frágiles, múltiplas fracturas e deformidades esqueléticas. El objetivo de ese artículo fue relatar un caso de paciente portador de Osteogénesis Imperfecta, sometido a anestesia venosa total para tratamiento quirúrgico de fractura de fémur. RELATO DEL CASO: Paciente del sexo masculino, 15 años, 41 kg, 140 cm, con historia de Osteogénesis Imperfecta y cardiopatía, programado para tratamiento quirúrgico de fractura del fémur. En la sala de operaci

  2. Childhood Osteoporosis and Presentation of Two Cases with Osteogenesis Imperfecta Type V / Osteoporoza V Otroški Dobi in Predstavitev Dveh Bolnikov Z Osteogenesis Imperfecta Tipa V

    Directory of Open Access Journals (Sweden)

    Bratanic Nina

    2015-03-01

    Full Text Available Uvod. Osteogenesis imperfecta (OI je vzročno heterogena bolezen, katere značilnost je osteoporoza v otroštvu. Pri vseh opisanih bolnikih s podtipom OI tipa V je vzrok bolezni ista mutacija c.-14C>T gena IFITM5. Kljub temu med bolniki obstaja izrazita fenotipska variabilnost v klinični sliki, toda opisan je le dober odgovor na zdravljenje z bisfosfonati.

  3. Percutaneous vertebroplasty in the treatment of vertebral body compression fracture secondary to osteogenesis imperfecta

    International Nuclear Information System (INIS)

    Percutaneous vertebroplasty, a minimally invasive interventional radiological procedure, has recently been used effectively for the treatment of symptomatic vertebral body compression fractures. Primary indications for vertebroplasty include osteoporotic compression fracture, osteolytic vertebral metastasis and myeloma, and vertebral hemangioma. We present a case and extend the indication of percutaneous vertebroplasty in a patient with a vertebral body compression fracture secondary to osteogenesis imperfecta. (orig.)

  4. Osteogenesis imperfecta : profiles of motor development as assessed by a postal questionnaire

    NARCIS (Netherlands)

    Engelbert, RHH; Uiterwaal, CSPM; Gulmans, VAM; Pruijs, HEH; Helders, PJM

    2000-01-01

    This study was performed to achieve more detailed information regarding the age and sequence in the development of motor milestones in the different types of osteogenesis imperfecta (OI). The parents of 98 patients with a diagnosis of OI were sent a questionnaire regarding the age at which patients

  5. Osteogenesis imperfecta in childhood: MR imaging of basilar impression

    International Nuclear Information System (INIS)

    Objective: To determine on radiographs the presence of Basilar Impression (BI) in children with Osteogenesis Imperfecta (OI). To confirm this sign and altered geometrical relationships of the craniocervical junction in course of time with magnetic resonance imaging (MRI). Methods and patients: In a cohort study of 130 patients with OI (OI type I: 85; OI type III: 21; OI type IV: 24) lateral radiographs of the skull and cervical spine were made in a standardised way. MRI scans were performed when BI was suspected based upon protrusion of the odontoid above Chamberlain's line. Intracranial abnormalities as well as the basal angle were described. Neurological examination was performed in patients with conclusive BI at MRI-scan. Results and discussion: In eight patients BI could be confirmed by MRI-scan. None of the children had or developed in time neurological symptoms or signs. Follow up of BI by MRI scans was done in seven patients (mean: 5 years; range: 2-6 years). No alteration of intracranial findings were seen at subsequent investigation, although in one child Chamberlain's line increased from 8 (first MRI) to 15 mm (last MRI). BI can be diagnosed by radiographs but in the extreme osteoporotic bone and altered anatomy of the craniocervical junction of children with OI MRI is preferable. As intracranial pathology can be demonstrated by MRI, also a relation can be laid to possible neurological symptoms and signs at clinical examination. Conclusion: In our cohort study no alteration of the intracranial contents was seen at subsequent MRI scans. Although anatomic deformations exist in BI, no neurological symptoms or signs were present in our study and no operative reconstruction had to be performed. Periodical MRI-scan has not been of influence on the clinical decision making process. At the moment we perform a MRI-scan if BI is suspected at lateral skull radiographs. The MRI images serve as reference findings to anticipate on possible future symptoms and signs of

  6. What is new in genetics and osteogenesis imperfecta classification?

    Directory of Open Access Journals (Sweden)

    Eugênia R. Valadares

    2014-12-01

    Full Text Available OBJECTIVE: Literature review of new genes related to osteogenesis imperfecta (OI and update of its classification. SOURCES: Literature review in the PubMed and OMIM databases, followed by selection of relevant references. SUMMARY OF THE FINDINGS: In 1979, Sillence et al. developed a classification of OI subtypes based on clinical features and disease severity: OI type I, mild, common, with blue sclera; OI type II, perinatal lethal form; OI type III, severe and progressively deforming, with normal sclera; and OI type IV, moderate severity with normal sclera. Approximately 90% of individuals with OI are heterozygous for mutations in the COL1A1 and COL1A2 genes, with dominant pattern of inheritance or sporadic mutations. After 2006, mutations were identified in the CRTAP, FKBP10, LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7, WNT1, BMP1, and TMEM38B genes, associated with recessive OI and mutation in the IFITM5 gene associated with dominant OI. Mutations in PLS3 were recently identified in families with osteoporosis and fractures, with X-linked inheritance pattern. In addition to the genetic complexity of the molecular basis of OI, extensive phenotypic variability resulting from individual loci has also been documented. CONCLUSIONS: Considering the discovery of new genes and limited genotype-phenotype correlation, the use of next-generation sequencing tools has become useful in molecular studies of OI cases. The recommendation of the Nosology Group of the International Society of Skeletal Dysplasias is to maintain the classification of Sillence as the prototypical form, universally accepted to classify the degree of severity in OI, while maintaining it free from direct molecular reference.

  7. Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.

    Science.gov (United States)

    Balasubramanian, Meena; Cartwright, Ashley; Smith, Kath; Arundel, Paul; Bishop, Nicholas J

    2016-02-01

    We report a sibling-pair and a 4-year old child from two families with an atypical presentation in Osteogenesis imperfecta (OI). In the sib-pair, the older sibling initially came to medical attention due to a fracture history (Patient 1) and she was shown to have a COL1A2 mutation. In addition, she also had developmental delay, facial dysmorphism, and a history of frequent infections which led to a search for an alternate diagnosis. ArrayCGH revealed a 4.3 Mb duplication on chromosome 19q13.42q13.43, which was confirmed by FISH analysis. On further familial analysis, the younger sibling who had no previous fracture history was also found to have the COL1A2 mutation and tested positive for the 19q13.42q13.43 duplication (Patient 2). The 19q13 duplication appears to be the cause of intellectual disability in these siblings but given that this is a chromosomal duplication, it is still possible that there is an as yet unidentified cause that may account for the combined phenotype in this family. Patient 3 was a 4-year old child presenting with a femoral fracture, blue sclerae, developmental delay, and joint hypermobility. Genetic analyses confirmed a COL1A2 mutation but also revealed an 8.8 Mb deletion of 11q24.2q25, confirmed by G-band chromosome analysis. We discuss the differing phenotypes in patients presenting with atypical OI and stress the need to consider ancillary investigations in individuals presenting with heterogeneous phenotypic symptoms, not entirely attributable to OI. PMID:26471105

  8. Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta

    Energy Technology Data Exchange (ETDEWEB)

    Orioli, I.M. [Universidade Federal do Rio de Janeiro (Brazil); Castilla, E.E. [Centro de Educacion Medica e Investigacion Clinica, Buenos Aires (Argentina); Scarano, G.; Mastroiacovo, P. [Universita Cattolica, Rome (Italy)

    1995-11-06

    The paternal ages of nonfamilial cases of achondroplasia (AC) (n = 78), thanatophoric dysplasia (TD) (n = 64), and osteogenesis imperfecta (OI) (n = 106), were compared with those of matched controls, from an Italian Indagine Policentrica Italiana sulle Malformazioni Congenite (IPIMC) and a South American Estudio Colaborativo Latinoamericano de Malformaciones Congenitas (ECLAMC) series. The degree of paternal age effect on the origin of these dominant mutations differed among the three conditions. Mean paternal age was highly elevated in AC, 36.30 {plus_minus} 6.74 years in the IPIMC, and 37.19 {plus_minus} 10.53 years in the ECLAMC; less consistently elevated in TD, 33.60 {plus_minus} 7.08 years in the IPIMC, and 36.41 {plus_minus} 9.38 years in the ECLAMC; and only slightly elevated in OI in the ECLAMC, 31.15 {plus_minus} 9.25 years, but not in the IPIMC, 32.26 {plus_minus} 6.07 years. Increased maternal age or birth order in these conditions disappeared when corrected for paternal age. Approximately 50% of AC and TD cases, and only 30% of OI cases, were born to fathers above age 35 years. For AC and TD, the increase in relative incidence with paternal age fitted an exponential curve. The variability of paternal age effect in these new mutations could be due, among other reasons, to the high proportion of germ-line mosaicism in OI parents, or to the localization of the AC gene, mapped to the 4p16.3 region, in the neighborhood of an unstable DNA area. 28 refs., 1 fig., 6 tabs.

  9. Transcriptional Repression of the Dspp Gene Leads to Dentinogenesis Imperfecta Phenotype in Col1a1-Trps1 Transgenic Mice

    OpenAIRE

    Napierala, Dobrawa; Sun, Yao; Maciejewska, Izabela; Bertin, Terry K.; Dawson, Brian; D'Souza, Rena; Qin, Chunlin; Lee, Brendan

    2012-01-01

    Dentinogenesis imperfecta (DGI) is a hereditary defect of dentin, a calcified tissue that is the most abundant component of teeth. Most commonly, DGI is manifested as a part of osteogenesis imperfecta (OI) or the phenotype is restricted to dental findings only. In the latter case, DGI is caused by mutations in the DSPP gene, which codes for dentin sialoprotein (DSP) and dentin phosphoprotein (DPP). Although these two proteins together constitute the majority of noncollagenous proteins of the ...

  10. The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study

    OpenAIRE

    Donnelly, Deirdre E; McConnell, Vivienne; Paterson, Anne; Morrison, Patrick J

    2010-01-01

    The minimum prevalence of lethal Osteogenesis imperfecta type II, thanatophoric dysplasia and achondroplasia were derived following detailed case note review of all perinatal lethal skeletal dysplasias (SD) in Northern Ireland over a 12 year period. Multiple sources of ascertainment, including genetic notes, radiological reports and post mortem findings, were used. 39 cases were identified. Thanatophoric dysplasia was the commonest diagnosis made (22), followed by osteogenesis imperfecta type...

  11. Dentinogenesis imperfecta type I: A case report with literature review on nomenclature system

    Directory of Open Access Journals (Sweden)

    D Devaraju

    2014-01-01

    Full Text Available Dentinogenesis imperfecta (DI is an inherited disorder affecting dentin. Defective dentin formation results in discolored teeth that are prone to attrition and fracture. Mutation in dentin sialophosphoprotein (DSPP has been found to cause the dentin disorders DI - I and II (shields II and III. Early diagnosis and treatment of DI is recommended as it may prevent or intercept deterioration of the teeth and occlusion and improve esthetics. Here, we report a case with characteristic clinical, radiological and histological features of DI-I. The etiology and classification followed in literature is confusing since dentinoenamel junction (DEJ in DI seems to be structurally and functionally normal and DI is clearly a disorder distinct from osteogenesis imperfecta (OI, but we still relate etiology of DI to DEJ and follow Shields classification. Therefore, we have briefly reviewed etiology and nomenclature system of DI.

  12. Osteogenesis Imperfecta Type I-IV, the Collagenous Disorder of Connective Tissue in Czech Population

    Czech Academy of Sciences Publication Activity Database

    Šormová, L.; Mazura, Ivan

    2011-01-01

    Roč. 7, č. 1 (2011), s. 59-64. ISSN 1801-5603 R&D Projects: GA MŠk(CZ) 1M06014 Institutional research plan: CEZ:AV0Z10300504 Keywords : osteogenesis imperfecta * collagen type I * COL1A1 * COL1A2 * MLBR * mutations Subject RIV: IN - Informatics, Computer Science http://www.ejbi.eu/images/2011-1/Sormova_en.pdf

  13. From pediatric to adult care: strategic evaluation of a transition program for patients with osteogenesis imperfecta

    OpenAIRE

    Dogba, Maman Joyce; Rauch, Frank; Wong, Trudy; Ruck, Joanne; Glorieux, Francis H; Bedos, Christophe

    2014-01-01

    Background Achieving a successful transition from pediatric to adult care for young adults with special needs, especially rare genetic diseases such as osteogenesis imperfecta (OI), is a prominent issue in healthcare research. This transition represents a challenge for patients with OI, their families, clinicians and healthcare managers because of the complex nature of the process and the lack of evaluation of existing transition programs. We evaluated a transition program for adolescents and...

  14. The epitheliogenesis imperfecta locus maps to equine chromosome 8 in American Saddlebred horses.

    Science.gov (United States)

    Lieto, L D; Cothran, E G

    2003-01-01

    Epitheliogenesis imperfecta (EI) is a hereditary junctional mechanobullous disease that occurs in newborn American Saddlebred foals. The pathological signs of epitheliogenesis imperfecta closely match a similar disease in humans known as Herlitz junctional epidermolysis bullosa, which is caused by a mutation in one of the genes (LAMA3, LAMB3 and LAMC2) coding for the subunits of the laminin 5 protein (laminin alpha3, laminin beta3 and laminin gamma2). The LAMA3 gene has been assigned to equine chromosome 8 and LAMB3 and LAMC2 have been mapped to equine chromosome 5. Linkage disequilibrium between microsatellite markers that mapped to equine chromosome 5 and equine chromosome 8 and the EI disease locus was tested in American Saddlebred horses. The allele frequencies of microsatellite alleles at 11 loci were determined for both epitheliogenesis imperfecta affected and unaffected populations of American Saddlebred horses by genotyping and direct counting of alleles. These were used to determine fit to Hardy-Weinberg equilibrium for control and EI populations using Chi square analysis. Two microsatellite loci located on equine chromosome 8q, ASB14 and AHT3, were not in Hardy-Weinberg equilibrium in affected American Saddlebred horses. In comparison, all of the microsatellite markers located on equine chromosome 5 were in Hardy-Weinberg equilibrium in affected American Saddlebred horses. This suggested that the EI disease locus was located on equine chromosome 8q, where LAMA3 is also located. PMID:14970704

  15. Orthopaedic complications of osteogenesis imperfecta; Les complications orthopediques de l'osteogenese imparfaite

    Energy Technology Data Exchange (ETDEWEB)

    Azrak, S.; Ksyar, R.; Ben Rais, N. [hOpital Ibn Sina, CHU de Rabat-Sale, Service de Medecine Nucleaire, Rabat-Sale (Morocco)

    2009-12-15

    Osteogenesis imperfecta is a genetic disease characterized by bone frailty. It is generally caused by an abnormal production of collagen, which is the main fibrous protein of the bone. Collagen is also present in the skin, tendons, the sclera of the eye and dentin. The most frequent manifestation of osteogenesis imperfecta is the occurrence of multiple fractures without major trauma. Severity and timing of the attack varies widely: some patients sustain a significant number of fractures during early childhood which may have a serious impact on growth, while others will have some fractures separated by a few years. In all cases, the bone strength improves in adulthood. The bone fractures cause pain and bone deformities sometimes result in a smaller size. Scoliosis is frequent and associated with painful vertebral collapses. We present a case of osteogenesis imperfecta in a 40-year-old adult and we describe the various orthopaedic complications of the disease, stressing the role of bone scintigraphy in the diagnosis and monitoring of these complications. (authors)

  16. Sequence Environment of Mutation Affects Stability and Folding in Collagen Model Peptides of Osteogenesis Imperfecta

    OpenAIRE

    Bryan, Michael A.; Cheng, Haiming; Brodsky, Barbara

    2011-01-01

    Osteogenesis Imperfecta (OI), a disorder characterized by fragile bones, is often a consequence of missense mutations in type I collagen which change one Gly in the repeating (Gly-Xaaa-Yaa)n sequence to a larger amino acid. The impact of local environment and the identity of the residue replacing Gly was investigated using two sets of triple-helical peptides. Gly mutations in the highly stable (Pro-Hyp-Gly)10 system are compared with mutations in T1-865 peptides where the mutation is located ...

  17. La unión craneocervical en el paciente con osteogénesis imperfecta

    OpenAIRE

    Ríos Ródenas, Mercedes

    2015-01-01

    La Osteogénesis Imperfecta (OI) es una enfermedad genética que se caracteriza por una reducción de la masa ósea con fragilidad ósea asociada. Los pacientes tienen tendencia a la fractura, por lo que también se la conoce como enfermedad de “huesos de cristal”. Por su baja incidencia, de 1:15.000 a 1:20.000 recién nacidos, está catalogada dentro del grupo de enfermedades raras. Estos pacientes, suelen presentar anomalías dentales y problemas oclusales severos que determinan que el odontólogo de...

  18. Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene

    OpenAIRE

    Grover, Monica; Campeau, Philippe M.; Lietman, Caressa Dee; Lu, James T.; Gibbs, Richard A.; Schlesinger, Alan E.; Lee, Brendan H.

    2013-01-01

    Osteogenesis imperfecta (OI) is typically caused by mutations in type 1 collagen genes, but in recent years new recessive and dominant forms caused by mutations in a plethora of different genes have been characterized. OI type V is a dominant form caused by the recurrent (c.-14C>T) mutation in the 5′UTR of the IFITM5 gene. The mutation adds 5 residues to the N-terminus of the IFITM5 but the pathophysiology of the disease still remains to be elucidated. Typical clinical features present in the...

  19. Raloxifene reduces skeletal fractures in an animal model of osteogenesis imperfecta.

    Science.gov (United States)

    Berman, Alycia G; Wallace, Joseph M; Bart, Zachary R; Allen, Matthew R

    2016-01-01

    Osteogenesis imperfecta (OI) is a genetic disease of Type I collagen and collagen-associated pathways that results in brittle bone behavior characterized by fracture and reduced mechanical properties. Based on previous work in our laboratory showing that raloxifene (RAL) can significantly improve bone mechanical properties through non-cellular mechanisms, we hypothesized that raloxifene would improve the mechanical properties of OI bone. In experiment 1, tibiae from female wild type (WT) and homozygous oim mice were subjected to in vitro soaking in RAL followed by mechanical tests. RAL soaking resulted in significantly higher post-yield displacement (+75% in WT, +472% in oim; pOI. PMID:26707242

  20. Association between joint hypermobility, scoliosis, and cranial base anomalies in paediatric Osteogenesis imperfecta patients: a retrospective cross-sectional study

    OpenAIRE

    Arponen, Heidi; MÀkitie, Outi; Waltimo-Sirén, Janna

    2014-01-01

    Abstract Background Joint hypermobility is a common clinical characteristic of patients with Osteogenesis imperfecta (OI), a disorder with serious comorbidities of scoliosis and cranial base anomalies. This study aimed at evaluating how prevalent joint hypermobility is in paediatric OI patients, and to find out whether it serves as a potential predictive marker of the different spinal complications; scoliosis and craniovertebral anomalie...

  1. Investigation of the Human Disease Osteogenesis Imperfecta: A Research-Based Introduction to Concepts and Skills in Biomolecular Analysis

    Science.gov (United States)

    Mate, Karen; Sim, Alistair; Weidenhofer, Judith; Milward, Liz; Scott, Judith

    2013-01-01

    A blended approach encompassing problem-based learning (PBL) and structured inquiry was used in this laboratory exercise based on the congenital disease Osteogenesis imperfecta (OI), to introduce commonly used techniques in biomolecular analysis within a clinical context. During a series of PBL sessions students were presented with several…

  2. Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice

    Science.gov (United States)

    Árvai, Kristóf; Horváth, Péter; Balla, Bernadett; Tobiás, Bálint; Kató, Karina; Kirschner, Gyöngyi; Klujber, Valéria; Lakatos, Péter; Kósa, János P.

    2016-01-01

    Next generation sequencing (NGS) is a rapidly developing area in genetics. Utilizing this technology in the management of disorders with complex genetic background and not recurrent mutation hot spots can be extremely useful. In this study, we applied NGS, namely semiconductor sequencing to determine the most significant osteogenesis imperfecta-related genetic variants in the clinical practice. We selected genes coding collagen type I alpha-1 and-2 (COL1A1, COL1A2) which are responsible for more than 90% of all cases. CRTAP and LEPRE1/P3H1 genes involved in the background of the recessive forms with relatively high frequency (type VII and VIII) represent less than 10% of the disease. In our six patients (1–41 years), we identified 23 different variants. We found a total of 14 single nucleotide variants (SNV) in COL1A1 and COL1A2, 5 in CRTAP and 4 in LEPRE1. Two novel and two already well-established pathogenic SNVs have been identified. Among the newly recognized mutations, one results in an amino acid change and one of them is a stop codon. We have shown that a new full-scale cost-effective NGS method can be developed and utilized to supplement diagnostic process of osteogenesis imperfecta with molecular genetic data in clinical practice. PMID:27335225

  3. Combined Treatment with Laser Sintering and Zirconium: A Case Report of Dentinogenesis Imperfecta

    Directory of Open Access Journals (Sweden)

    Simel Ayyildiz

    2013-01-01

    Full Text Available Osteogenesis imperfecta (OI is a heterogeneous disorder of connective tissue that manifests mainly as skeletal deformity and bone fragility. Dentinogenesis imperfecta (DI is sometimes an accompanying symptom of OI. The treatment protocol of these patients varies according to the clinical appearance. The case report here describes complete mouth rehabilitation of an 18-year-old male patient with OI and DI using direct metal laser sintering (DMLS technique of metal-ceramic restorations and zirconium all-ceramic crowns. DMLS is an additive metal fabrication technology that is simpler, more precise, and healthier than conventional manufacturing and can be remarkably cost effective. Moreover, the technique affords highly accurate production of fixed partial dentures with ideal marginal fit and excellent mechanical properties. The patient was treated using a multidisciplinary strategy that focused on controlling caries, protecting teeth from further wear, obtaining an appropriate vertical dimension, and providing soft tissue support to return the facial profile to a normal appearance using new technology in the field of prosthetics.

  4. Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice.

    Science.gov (United States)

    Árvai, Kristóf; Horváth, Péter; Balla, Bernadett; Tobiás, Bálint; Kató, Karina; Kirschner, Gyöngyi; Klujber, Valéria; Lakatos, Péter; Kósa, János P

    2016-01-01

    Next generation sequencing (NGS) is a rapidly developing area in genetics. Utilizing this technology in the management of disorders with complex genetic background and not recurrent mutation hot spots can be extremely useful. In this study, we applied NGS, namely semiconductor sequencing to determine the most significant osteogenesis imperfecta-related genetic variants in the clinical practice. We selected genes coding collagen type I alpha-1 and-2 (COL1A1, COL1A2) which are responsible for more than 90% of all cases. CRTAP and LEPRE1/P3H1 genes involved in the background of the recessive forms with relatively high frequency (type VII and VIII) represent less than 10% of the disease. In our six patients (1-41 years), we identified 23 different variants. We found a total of 14 single nucleotide variants (SNV) in COL1A1 and COL1A2, 5 in CRTAP and 4 in LEPRE1. Two novel and two already well-established pathogenic SNVs have been identified. Among the newly recognized mutations, one results in an amino acid change and one of them is a stop codon. We have shown that a new full-scale cost-effective NGS method can be developed and utilized to supplement diagnostic process of osteogenesis imperfecta with molecular genetic data in clinical practice. PMID:27335225

  5. Results of a bone splint technique for the treatment of lower limb deformities in children with type I osteogenesis imperfecta

    Directory of Open Access Journals (Sweden)

    Dasheng Lin

    2013-01-01

    Full Text Available Background: Children with osteogenesis imperfecta (OI can suffer from frequent fractures and limb deformities, resulting in impaired ambulation. Osteopenia and thin cortices complicate orthopedic treatment in this group. This study evaluates the clinical results of a bone splint technique for the treatment of lower limb deformities in children with type I OI. The technique consists of internal plating combined with cortical strut allograft fixation. Materials and Methods: We prospectively followed nine children (five boys, four girls with lower limb deformities due to type I OI, who had been treated with the bone splint technique (11 femurs, four tibias between 2003 and 2006. The fracture healing time, deformity improvement, ambulation ability and complications were recorded to evaluate treatment effects. Results: At the time of surgery the average age in our study was 7.7 years (range 5-12 years. The average length of followup was 69 months (range 60-84 months. All patients had good fracture healing with an average healing time of 14 weeks (range 12-16 weeks and none experienced further fractures, deformity, or nonunion. The fixation remained stable throughout the procedure in all cases, with no evidence of loosening or breakage of screws and the deformity and mobility significantly improved after surgery. Of the two children confined to bed before surgery, one was able to walk on crutches and the other needed a wheelchair. The other seven patients could walk without walking aids or support like crutches. Conclusions: These findings suggest that the bone splint technique provides good mechanical support and increases the bone mass. It is an effective treatment for children with OI and lower limb deformities.

  6. Intravitreal bevacizumab for treatment of choroidal neovascularization associated with osteogenesis imperfecta

    Directory of Open Access Journals (Sweden)

    Pukhraj Rishi

    2012-01-01

    Full Text Available A 12-year-old girl, diagnosed of osteogenesis imperfecta, presented with sudden visual loss in the left eye. Investigations revealed an active choroidal neovascular membrane. She underwent treatment with intravitreal Bevacizumab (1.25 mg/0.05 ml. Follow-up at 1 month revealed the development of lacquer crack running through the macula, underlying the fovea. The patient received two re-treatments at 1-month intervals, following which the choroidal neovascularization (CNV regressed completely. However, further progression of lacquer cracks was noted. At the last follow-up, 6 months following the last injection, the fundus remained stable and vision was maintained at 20/200. Considering the natural history of the disease and the increased risk of rupture of the Bruch′s membrane in such eyes, the possible complication of a lacquer crack developing must be borne in mind, before initiating treatment.

  7. Osteogenesis Imperfecta Diagnosed from Mandibular and Lower Limb Fractures: A Case Report.

    Science.gov (United States)

    Kobayashi, Yoshikazu; Satoh, Koji; Mizutani, Hideki

    2016-06-01

    Osteogenesis imperfecta (OI) is a congenital disease characterized by bone fragility and low bone mass. Despite the variety of its manifestation and severity, facial fractures occur very infrequently. Here, we report a case of an infant diagnosed with OI after mandibular and lower limb fractures. A boy aged 1 year and 3 months was brought to his neighboring hospital with a complaint of facial injury. He was transferred to our hospital to undergo operation 3 days later. Computed tomography images revealed multiple mandibular fractures including complete fracture in the symphysis and dislocated condylar fracture on the right side. Open reduction and internal fixation with absorbable implants was performed 7 days after injury. He fractured his right lower limb 2 months later. He was diagnosed with OI type IA by an orthopedist. He will be administered bone-modifying agents if he suffers from frequent fractures. PMID:27162570

  8. A rare case of osteogenesis imperfecta combined with complete tooth loss.

    Science.gov (United States)

    Lu, Yanqin; Zhao, Fei; Ren, Xiuzhi; Li, Zhiliang; Yang, Xiaomeng; Han, Jinxiang

    2014-01-01

    Osteogenesis imperfecta (OI) is a heritable disorder of the connective tissue characterized by blue sclerae, osteoporosis and bone fragility. Dentinogenesis imperfecta type I is commonly seen in OI patients, but other dental impairments, such as tooth agenesis or complete tooth loss, are rarely reported for these patients. Here, we report the case of a 37-year-old female Chinese OI patient who experienced complete tooth loss before puberty. The patient has a family history of OI and her father has a history of tooth loss. She showed obvious OI phenotypes, including a dwarfed stature, blue sclerae, scoliosis, pigeon chest and a history of fractures. Tooth loss began at the age of 6 years and continued until complete tooth loss at 20 years; this occurred in the absence of dental decay, gum disease, accidents or drug usage. Radiological studies revealed osteoporosis of the lower limbs and an underdeveloped scapula. Type I collagen gene analysis identified a known c.2314G>A (p.Gly772Ser) substitution in the COL1A2 gene, which we suggest affects the interaction between type I collagen and extracellular matrix proteins, including cartilage oligomeric matrix protein, phosphophoryn and SPARC (secreted protein acidic and rich in cysteine). In silico prediction indicated a relatively mild effect of the mutation, so it is conceivable that the severity of the clinical phenotype may result from additional mutations in candidate genes responsible for abnormal dental phenotypes in this family. To our knowledge, this is the first report of an OI patient with a phenotype of complete tooth loss at a young age. PMID:23934635

  9. Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms

    OpenAIRE

    Thiele, Frank; Cohrs, Christian M.; Flor, Armando; Lisse, Thomas S.; Przemeck, Gerhard K. H.; Horsch, Marion; Schrewe, Anja; Gailus-Durner, Valerie; Ivandic, Boris; Katus, Hugo A.; Wurst, Wolfgang; Reisenberg, Catherine; Chaney, Hollis; Fuchs, Helmut; Hans, Wolfgang

    2012-01-01

    Osteogenesis imperfecta (OI) is an inherited connective tissue disorder with skeletal dysplasia of varying severity, predominantly caused by mutations in the collagen I genes (COL1A1/COL1A2). Extraskeletal findings such as cardiac and pulmonary complications are generally considered to be significant secondary features. Aga2, a murine model for human OI, was systemically analyzed in the German Mouse Clinic by means of in vivo and in vitro examinations of the cardiopulmonary system, to identif...

  10. Results of a bone splint technique for the treatment of lower limb deformities in children with type I osteogenesis imperfecta

    OpenAIRE

    Dasheng Lin; Wenliang Zhai; Kejian Lian; Zhenqi Ding

    2013-01-01

    Background: Children with osteogenesis imperfecta (OI) can suffer from frequent fractures and limb deformities, resulting in impaired ambulation. Osteopenia and thin cortices complicate orthopedic treatment in this group. This study evaluates the clinical results of a bone splint technique for the treatment of lower limb deformities in children with type I OI. The technique consists of internal plating combined with cortical strut allograft fixation. Materials and Methods: We prospectivel...

  11. Osteogenesis Imperfecta Model Peptides: Incorporation of Residues Replacing Gly within a Triple Helix Achieved by Renucleation and Local Flexibility

    OpenAIRE

    Xiao, Jianxi; Madhan, Balaraman; Li, Yingjie; Brodsky, Barbara; Baum, Jean

    2011-01-01

    Missense mutations, which replace one Gly with a larger residue in the repeating sequence of the type I collagen triple helix, lead to the hereditary bone disorder osteogenesis imperfecta (OI). Previous studies suggest that these mutations may interfere with triple-helix folding. NMR was used to investigate triple-helix formation in a series of model peptides where the residue replacing Gly, as well as the local sequence environment, was varied. NMR measurement of translational diffusion coef...

  12. Eleven years of experience with bisphosphonate plus alfacalcidol treatment in a man with osteogenesis imperfecta type I

    Directory of Open Access Journals (Sweden)

    Iwamoto J

    2012-12-01

    Full Text Available Jun Iwamoto,1 Yoshihiro Sato,2 Mitsuyoshi Uzawa,3 Hideo Matsumoto11Institute for Integrated Sports Medicine, Keio University School of Medicine, Tokyo, 2Department of Neurology, Mitate Hospital, Fukuoka, 3Department of Orthopaedic Surgery, Keiyu Orthopaedic Hospital, Gunma, JapanAbstract: We report the 11-year follow-up of a man with osteogenesis imperfecta type I who was treated with bisphosphonates and alfacalcidol. A 36-year-old Japanese man with osteogenesis imperfecta type I who had frequently experienced painful fragility fractures consulted our clinic because of chronic back pain. The patient had multiple morphometric vertebral fractures and a low bone mineral density (BMD at the lumbar spine. The patient was treated with cyclical etidronate 200 mg, for 2 weeks every 3 months, plus alfacalcidol 1 µg daily, for 2 years; and alendronate 5 mg daily or 35 mg weekly, plus alfacalcidol 1 µg daily for 9 years. After 11 years of treatment, BMD at the lumbar spine increased by 6.4%, following a 20.3% reduction in serum alkaline phosphatase. Serum calcium, phosphorus, and intact parathyroid hormone levels remained within the normal ranges. Three clinical fractures occurred at two ribs and the metacarpus, and two morphometric vertebral fractures occurred at the thoracic spine during the 11-year treatment period, but the patient experienced no adverse effects. Thus, the present case report shows the long-term outcome and safety of bisphosphonate plus alfacalcidol treatment in a man with osteogenesis imperfecta type I.Keywords: etidronate, alendronate, fragility fracture, bone mineral density, osteogenesis imperfecta

  13. Scoliosis in children with osteogenesis imperfecta: influence of severity of disease and age of reaching motor milestones

    OpenAIRE

    Engelbert, Raoul H.; Uiterwaal, Cuno S; van der Hulst, Annelies; Witjes, Baukje; Helders, Paul J.; Pruijs, Hans E.

    2002-01-01

    We studied the relationship between the age of reaching motor milestones, especially anti-gravity activities, and the age of development of pathological spinal curvatures in children with osteogenesis imperfecta (OI). We hypothesized that earlier achievement of anti-gravity motor milestones predicts a later development of pathological spinal curvatures. Ninety-six children participated in this retrospective study. The severity of the disease was classified according to Sillence into types I–I...

  14. Vliv typu mutace v genu COL1A1 na fenotyp osob s diagnózou osteogenesis imperfecta

    Czech Academy of Sciences Publication Activity Database

    Šormová, L.; Mazurová, F.; Mazura, Ivan

    2008-01-01

    Roč. 15, 3-4 (2008), s. 332-338. ISSN 1212-4575. [Diagnostic, Comprehensive Treatment and Biomechanics of Locomotor Effects. Prague-Sydney-Lublin Symposium /10./. Prague, 24.09.2008-25.09.2008] R&D Projects: GA MŠk(CZ) 1M06014 Institutional research plan: CEZ:AV0Z10300504 Keywords : osteogenesis imperfecta * COL1A1 * kolagen * kolagenopatie * mutace Subject RIV: EB - Genetics ; Molecular Biology

  15. Osteogenesis imperfecta IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1

    OpenAIRE

    Takagi, Masaki; Matsushita, Mitsuru; Nishimura, Gen; Hasegawa, Tomonobu

    2014-01-01

    Osteogenesis imperfecta IIC (OI IIC), which is a rare variant of lethal OI that has been considered to be an autosomal recessive trait, is characterized by twisted, slender long bones with dense metaphyseal margins. Here, we report a typical case of OI IIC caused by a novel heterozygous mutation in the C-propeptide region of COL1A1. OI IIC seems to be caused by a dominant mutation of COL1A1.

  16. Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations

    DEFF Research Database (Denmark)

    Vandersteen, Anthony M; Lund, Allan M; Ferguson, David J P;

    2014-01-01

    Osteogenesis imperfecta (OI) type I is a hereditary disorder of connective tissue (HDCT) characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures from infancy. We present four examples of OI type I complicated by valvular hear...

  17. Osteogenesis imperfecta

    Science.gov (United States)

    ... by a defect in the gene that produces type 1 collagen, an important building block of bone. There are ... Multiple bone fractures Early hearing loss ( deafness ) Because type I collagen is also found in ligaments, people with OI ...

  18. A novel splicing mutation alters DSPP transcription and leads to dentinogenesis imperfecta type II.

    Directory of Open Access Journals (Sweden)

    Jun Zhang

    Full Text Available Dentinogenesis imperfecta (DGI type II is an autosomal dominant disease characterized by a serious disorders in teeth. Mutations of dentin sialophosphoprotein (DSPP gene were revealed to be the causation of DGI type II (DGI-II. In this study, we identified a novel mutation (NG_011595.1:g.8662T>C, c.135+2T>C lying in the splice donor site of intron 3 of DSPP gene in a Chinese Han DGI-II pedigree. It was found in all affected subjects but not in unaffected ones or other unrelated healthy controls. The function of the mutant DSPP gene, which was predicted online and subsequently confirmed by in vitro splicing analysis, was the loss of splicing of intron 3, leading to the extended length of DSPP mRNA. For the first time, the functional non-splicing of intron was revealed in a novel DSPP mutation and was considered as the causation of DGI-II. It was also indicated that splicing was of key importance to the function of DSPP and this splice donor site might be a sensitive mutation hot spot. Our findings combined with other reports would facilitate the genetic diagnosis of DGI-II, shed light on its gene therapy and help to finally conquer human diseases.

  19. Amelogénesis imperfecta. Informe de tres casos en una familia en Cali, Colombia.

    Directory of Open Access Journals (Sweden)

    Jesús Alberto Calero

    2009-11-01

    Full Text Available La frecuencia de la amelogénesis imperfecta (AI varía en las diferentes poblaciones mundiales. En Colombia se desconoce la frecuencia de la afección. Este informe muestra la consanguinidad de tres pacientes con AI la madre de 36 años y dos hijos de 8 y 15 años de edad. Esta condición se halló presente en cuatro familiares más próximos a la madre, lo que corrobora la condición hereditaria que se transmite como un rasgo dominante. El tratamiento para estos pacientes al principio es preventivo, con controles periódicos en los que se tiene en cuenta el manejo adecuado de hábitos de higiene oral. Una dieta balanceada pobre en azucares y agentes cariogénicos y una periódica fluorización se constituyen en el mejor procedimiento con la intención de fortalecer el esmalte remanente. Luego, a estos enfermos se les debe rehabilitar para la estética y la función de sus dientes.

  20. Gait characteristics and functional assessment of children with type I osteogenesis imperfecta.

    Science.gov (United States)

    Graf, Adam; Hassani, Sahar; Krzak, Joseph; Caudill, Angela; Flanagan, Ann; Bajorunaite, Ruta; Harris, Gerald; Smith, Peter

    2009-09-01

    The purpose of this study was to improve the evaluation process of children with type I Osteogenesis Imperfecta (OI) by providing a quantitative comparison of gait and selected functional assessments to age-matched controls. A 14-camera Vicon Motion Analysis System was used for gait analysis along with selected functional assessments (Pediatric Outcomes Data Collection Instrument [PODCI], Functional Assessment Questionnaire [FAQ], Faces Pain Scale-Revised [FPS-R]) conducted on 10 subjects with type I OI and 22 age-matched healthy controls. The results of the OI group demonstrated abnormal gait parameters including increased double support, delayed foot off, reduced ankle range of motion and plantarflexion during third rocker, along with greater ankle power absorption during terminal stance and reduced ankle power generation during push off. The functional assessment scores of the OI group were similar to the control group for basic mobility and function, but were lower than their peers in the sports and physical function category. The evaluation of individuals with OI by means of gait analysis and selected functional assessments, along with an accurate biomechanical model of the lower extremities, is proposed to better understand and predict OI disability and improve quality of life. PMID:19242979

  1. Introduction of a new standardized assessment score of spine morphology in osteogenesis imperfecta

    International Nuclear Information System (INIS)

    Purpose: Osteogenesis imperfecta (OI) is a rare hereditary disease leading to multiple bone deformities and fractures. In the absence of causal therapy, a symptomatic approach is based on treatment with bisphosphonates and physiotherapy. The clinical and radiological manifestations vary. Therefore, standardization and quantification for an objective comparison, especially during therapy, are required. In this paper, radiological changes of the spine are quantified according to their clinical relevance to define a scoring system that transfers the morphological changes into a single value representing the severity of the disease. Materials and Methods: 268 lateral spine X-rays of 95 patients with OI (median age 5.6 years) were assessed. The findings were classified based on their clinical relevance. Results: The three criteria, vertebral compression, thoracolumbar kyphosis and deformity type, were quantified in a new grading system. Based on this, a 'severity classification' (1 to 5) was defined with implications for diagnostics and treatment. A mathematical formula that takes into account the three criteria and their correlations to clinical relevance, resulting in a 'severity score', was developed. Conclusion: 'Severity classification' and 'severity score' introduce a new concept for a standardized evaluation of spine X-rays in patients with OI. For both scientific and routine purposes, it provides the user with a simple and easy-to-handle tool for assessing and comparing different stages of severity prior to and during therapy with detailed accuracy. (orig.)

  2. Introduction of a new standardized assessment score of spine morphology in osteogenesis imperfecta

    Energy Technology Data Exchange (ETDEWEB)

    Koerber, F.; Schulze Uphoff, U.; Koerber, S.; Maintz, D. [Koeln Univ. (Germany). Dept. of Radiology; Schoenau, E.; Semler, O. [Koeln Univ. (Germany). Children' s Hospital

    2012-08-15

    Purpose: Osteogenesis imperfecta (OI) is a rare hereditary disease leading to multiple bone deformities and fractures. In the absence of causal therapy, a symptomatic approach is based on treatment with bisphosphonates and physiotherapy. The clinical and radiological manifestations vary. Therefore, standardization and quantification for an objective comparison, especially during therapy, are required. In this paper, radiological changes of the spine are quantified according to their clinical relevance to define a scoring system that transfers the morphological changes into a single value representing the severity of the disease. Materials and Methods: 268 lateral spine X-rays of 95 patients with OI (median age 5.6 years) were assessed. The findings were classified based on their clinical relevance. Results: The three criteria, vertebral compression, thoracolumbar kyphosis and deformity type, were quantified in a new grading system. Based on this, a 'severity classification' (1 to 5) was defined with implications for diagnostics and treatment. A mathematical formula that takes into account the three criteria and their correlations to clinical relevance, resulting in a 'severity score', was developed. Conclusion: 'Severity classification' and 'severity score' introduce a new concept for a standardized evaluation of spine X-rays in patients with OI. For both scientific and routine purposes, it provides the user with a simple and easy-to-handle tool for assessing and comparing different stages of severity prior to and during therapy with detailed accuracy. (orig.)

  3. Child abuse and osteogenesis imperfecta: how can they be still misdiagnosed? A case report.

    Science.gov (United States)

    D'Eufemia, Patrizia; Palombaro, Marta; Lodato, Valentina; Zambrano, Anna; Celli, Mauro; Persiani, Pietro; De Bari, Maria Pia; Sangiorgi, Luca

    2012-09-01

    Osteogenesis imperfecta (OI) is a rare hereditary disease caused by mutations in genes coding for type I collagen, resulting in bone fragility. In literature are described forms lethal in perinatal period, forms which are moderate and slight forms where the only sign of disease is osteopenia. Child abuse is an important social and medical problem. Fractures are the second most common presentation after skin lesions and may present specific patterns.The differential diagnosis between slight-moderate forms of OI and child abuse could be very challenging especially when other signs typical of abuse are absent, since both could present with multiple fractures without reasonable explanations. We report a 20 months-old female with a history of 4 fractures occurred between the age of three and eighteen months, brought to authorities' attention as a suspected child abuse.However when she came to our department physical examination, biochemical tests, total body X-ray and a molecular analysis of DNA led the diagnosis of OI.Thus, a treatment with bisphosphonate and a physical rehabilitation process, according to Vojta method, were started with improvement in bony mineralization, gross motor skills and absence of new fracture.In conclusion our case demonstrates how in any child presenting fractures efforts should be made to consider, besides child abuse, all the other hypothesis even the rarest as OI. PMID:23289038

  4. A DSPP Mutation Causing Dentinogenesis Imperfecta and Characterization of the Mutational Effect

    Directory of Open Access Journals (Sweden)

    Sook-Kyung Lee

    2013-01-01

    Full Text Available Mutations in the DSPP gene have been identified in nonsyndromic hereditary dentin defects, but the genotype-phenotype correlations are not fully understood. Recently, it has been demonstrated that the mutations of DSPP affecting the IPV leader sequence result in mutant DSPP retention in rough endoplasmic reticulum (ER. In this study, we identified a Korean family with dentinogenesis imperfecta type III. To identify the disease causing mutation in this family, we performed mutational analysis based on candidate gene sequencing. Exons and exon-intron boundaries of DSPP gene were sequenced, and the effects of the identified mutation on the pre-mRNA splicing and protein secretion were investigated. Candidate gene sequencing revealed a mutation (c.50C > T, p.P17L in exon 2 of the DSPP gene. The splicing assay showed that the mutation did not influence pre-mRNA splicing. However, the mutation interfered with protein secretion and resulted in the mutant protein remaining largely in the ER. These results suggest that the mutation affects ER-to-Golgi apparatus export and results in the reduction of secreted DSPP and ER overload. This may induce cell stress and damage processing and/or transport of dentin matrix proteins or other critical proteins.

  5. Microstructural and Photoacoustic Infrared Spectroscopic Studies of Human Cortical Bone with Osteogenesis Imperfecta

    Science.gov (United States)

    Gu, Chunju; Katti, Dinesh R.; Katti, Kalpana S.

    2016-04-01

    The molecular basis of bone disease osteogenesis imperfecta (OI) and the mineralization of hydroxyapatite in OI bone have been of significant research interest. To further investigate the mechanism of OI disease and bone mineralization, Fourier transform infrared spectroscopy (FTIR), scanning electron microscopy, and x-ray diffraction (XRD) are used in the present study to describe the structural and compositional differences between OI and healthy bone. OI bone exhibits more porous, fibrous features, abnormal collagen fibrils, and abnormal mineral deposits. Likewise, photoacoustic-FTIR experiments indicate an aberrant collagen structure and an altered mineral structure in OI. In contrast, there is neither significant difference in the non-collagenous proteins (NCPs) composition observed nor apparent change in the crystal structure between OI and healthy bone minerals as shown in XRD and energy-dispersive x-ray spectroscopy (EDS) results. This observation indicates that the biomineralization process is more controlled by the bone cells and non-collagenous phosphorylated proteins. The present study also confirms that there is an orientational influence on the stoichiometry of the mineral in OI bone. Also, a larger volume of the hydrated layer in the transverse plane than the longitudinal plane of the mineral crystal structure is proposed. The appearance of a new C-S band in the FTIR spectra in OI bone suggests the substitution of glycine by cysteine in collagen molecules or/and an increased amount of cysteine-rich osteonectin that relates to mineral nucleation and mineral crystal formation.

  6. Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene causing osteogenesis imperfecta

    OpenAIRE

    Aftab, S A S; Reddy, N.; Owen, N L; POLLITT, R.; Harte, A.; McTernan, P G; Tripathi, G.; Barber, T M

    2013-01-01

    Summary A 19-year-old woman was diagnosed with osteogenesis imperfecta (OI). She had sustained numerous low-trauma fractures throughout her childhood, including a recent pelvic fracture (superior and inferior ramus) following a low-impact fall. She had the classical blue sclerae, and dual energy X-ray absorptiometry (DEXA) bone scanning confirmed low bone mass for her age in the lumbar spine (Z-score was −2.6). However, despite these classical clinical features, the diagnosis of OI had not be...

  7. La Justicia Procedimental Imperfecta de John Rawls, en la Conciencia Jurídica Material de Alf Ross

    OpenAIRE

    Gabriela González Gómez; María de Lourdes González Chávez

    2005-01-01

    La inacabada justicia procedimental imperfecta planteada por John Rawls sobre los jueces, puede proyectarse hacia la conciencia jurídica material de Alf Ross si tomamos en consideración al juez como institución y ciudadano cuando aplica la ley en la población que juzga. La teoría de la justicia de John Rawls sólo considera al juzgador como representante de una institución social como lo es el Poder Judicial, pero nosotros sostenemos que debe aplicársele también como ciudadano los principios d...

  8. Deep tissue single cell MSC ablation using a fiber laser source to evaluate therapeutic potential in osteogenesis imperfecta

    Science.gov (United States)

    Tehrani, Kayvan F.; Pendleton, Emily G.; Lin, Charles P.; Mortensen, Luke J.

    2016-04-01

    Osteogenesis imperfecta (OI) is a currently uncurable disease where a mutation in collagen type I yields brittle bones. One potential therapy is transplantation of mesenchymal stem cells (MSCs), but controlling and enhancing transplanted cell survival has proven challenging. Therefore, we use a 2- photon imaging system to study individual transplanted cells in the living bone marrow. We ablated cells deep in the bone marrow and observed minimal collateral damage to surrounding tissue. Future work will evaluate the local impact of transplanted MSCs on bone deposition in vivo.

  9. Strontium Ranelate Reduces the Fracture Incidence in a Growing Mouse Model of Osteogenesis Imperfecta.

    Science.gov (United States)

    Shi, Changgui; Hu, Bo; Guo, Lei; Cao, Peng; Tian, Ye; Ma, Jun; Chen, Yuanyuan; Wu, Huiqiao; Hu, Jinquan; Deng, Lianfu; Zhang, Ying; Yuan, Wen

    2016-05-01

    Osteogenesis imperfecta (OI) is a genetic bone dysplasia characterized by brittle bones with increased fracture risk. Although current treatment options to improve bone strength in OI focus on antiresorptive bisphosphonates, controlled clinical trials suggest they have an equivocal effect on reducing fracture risk. Strontium ranelate (SrR) is a promising therapy with a dual mode of action that is capable of simultaneously maintaining bone formation and reducing bone resorption, and may be beneficial for the treatment of OI. In this study, SrR therapy was investigated to assess its effects on fracture frequency and bone mass and strength in an animal model of OI, the oim/oim mouse. Three-week-old oim/oim and wt/wt mice were treated with either SrR or vehicle (Veh) for 11 weeks. After treatment, the average number of fractures sustained by SrR-treated oim/oim mice was significantly reduced compared to Veh-treated oim/oim mice. Micro-computed tomographic (μCT) analyses of femurs showed that both trabecular and cortical bone mass were significantly improved with SrR treatment in both genotypes. SrR significantly inhibited bone resorption, whereas bone formation indices were maintained. Biomechanical testing revealed improved bone structural properties in both oim/oim and wild-type (wt/wt) mice under the treatment, whereas no significant effects on bone brittleness and material quality were observed. In conclusion, SrR was able to effectively reduce fractures in oim/oim mice by improving bone mass and strength and thus represents a potential therapy for the treatment of pediatric OI. © 2015 American Society for Bone and Mineral Research. PMID:26679066

  10. Evidence for a Role for Nanoporosity and Pyridinoline Content in Human Mild Osteogenesis Imperfecta.

    Science.gov (United States)

    Paschalis, Eleftherios P; Gamsjaeger, Sonja; Fratzl-Zelman, Nadja; Roschger, Paul; Masic, Admir; Brozek, Wolfgang; Hassler, Norbert; Glorieux, Francis H; Rauch, Frank; Klaushofer, Klaus; Fratzl, Peter

    2016-05-01

    Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous connective tissue disorder characterized by bone fragility that arises from decreased bone mass and abnormalities in bone material quality. OI type I represents the milder form of the disease and according to the original Sillence classification is characterized by minimal skeletal deformities and near-normal stature. Raman microspectroscopy is a vibrational spectroscopic technique that allows the determination of bone material properties in bone biopsy blocks with a spatial resolution of ∼1 µm, as a function of tissue age. In the present study, we used Raman microspectroscopy to evaluate bone material quality in transiliac bone biopsies from children with a mild form of OI, either attributable to collagen haploinsufficiency OI type I (OI-Quant; n = 11) or aberrant collagen structure (OI-Qual; n = 5), as a function of tissue age, and compared it against the previously published values established in a cohort of biopsies from healthy children (n = 54, ages 1 to 23 years). The results indicated significant differences in bone material compositional characteristics between OI-Quant patients and healthy controls, whereas fewer were evident in the OI-Qual patients. Differences in both subgroups of OI compared with healthy children were evident for nanoporosity, mineral maturity/crystallinity as determined by maxima of the v1 PO4 Raman band, and pyridinoline (albeit in different direction) content. These alterations in bone material compositional properties most likely contribute to the bone fragility characterizing this disease. © 2016 American Society for Bone and Mineral Research. PMID:26748579

  11. Sclerostin Antibody Treatment Improves the Bone Phenotype of Crtap(-/-) Mice, a Model of Recessive Osteogenesis Imperfecta.

    Science.gov (United States)

    Grafe, Ingo; Alexander, Stefanie; Yang, Tao; Lietman, Caressa; Homan, Erica P; Munivez, Elda; Chen, Yuqing; Jiang, Ming Ming; Bertin, Terry; Dawson, Brian; Asuncion, Franklin; Ke, Hua Zhu; Ominsky, Michael S; Lee, Brendan

    2016-05-01

    Osteogenesis imperfecta (OI) is characterized by low bone mass, poor bone quality, and fractures. Standard treatment for OI patients is limited to bisphosphonates, which only incompletely correct the bone phenotype, and seem to be less effective in adults. Sclerostin-neutralizing antibodies (Scl-Ab) have been shown to be beneficial in animal models of osteoporosis, and dominant OI resulting from mutations in the genes encoding type I collagen. However, Scl-Ab treatment has not been studied in models of recessive OI. Cartilage-associated protein (CRTAP) is involved in posttranslational type I collagen modification, and its loss of function results in recessive OI. In this study, we treated 1-week-old and 6-week-old Crtap(-/-) mice with Scl-Ab for 6 weeks (25 mg/kg, s.c., twice per week), to determine the effects on the bone phenotype in models of "pediatric" and "young adult" recessive OI. Vehicle-treated Crtap(-/-) and wild-type (WT) mice served as controls. Compared with control Crtap(-/-) mice, micro-computed tomography (μCT) analyses showed significant increases in bone volume and improved trabecular microarchitecture in Scl-Ab-treated Crtap(-/-) mice in both age cohorts, in both vertebrae and femurs. Additionally, Scl-Ab improved femoral cortical parameters in both age cohorts. Biomechanical testing showed that Scl-Ab improved parameters of whole-bone strength in Crtap(-/-) mice, with more robust effects in the week 6 to 12 cohort, but did not affect the increased bone brittleness. Additionally, Scl-Ab normalized the increased osteoclast numbers, stimulated bone formation rate (week 6 to 12 cohort only), but did not affect osteocyte density. Overall, our findings suggest that Scl-Ab treatment may be beneficial in the treatment of recessive OI caused by defects in collagen posttranslational modification. © 2015 American Society for Bone and Mineral Research. PMID:26716893

  12. Resource Centres for Rare Oral Diseases – Why?

    DEFF Research Database (Denmark)

    Daugaard-Jensen, Jette; Gjørup, Hans

    2010-01-01

    .5-73) and the male/female ratio was equal (1.06) Results: A: Oligodontia (N=154 ) and Amelogenesis Imperfecta (N=146 ) were the most frequently diagnosed dental anomalies. B: Osteogenesis Imperfecta (N=88), Ectodermal Dysplasia (N=81), Ehlers Danlos Syndrome (61) and Marfan Syndrome (N=44) were the largest groups...

  13. Benefit of infusions with ibandronate treatment in children with osteogenesis imperfecta

    Institute of Scientific and Technical Information of China (English)

    LI Mei; MENG Xun-wu; XU Ling; XIA Wei-bo; XING Xiao-ping; YU Wei; HU Ying-ying; JIANG Yan; WANG Ou; LIU Hai-juan; HAN Lan-wen

    2011-01-01

    Background Osteogenesis imperfecta (OI) is a rare bone disease and its effective treatment is relatively deficient. We tried to assess the effects of new bisphosphonate, ibandronate on children with OI.Methods In this open-label, prospective, controlled study, 30 children with OI were enrolled. They received either infusions of ibandronate (2 mg) in every three months or oral calcitriol 0.25 μg daily for 24 months. All patients took 500 mg calcium plus 200 U vitamin D daily together. The endpoints were the change of annual new fracture rate (observed by case history and X ray films of spine), bone mineral density (BMD, measured by dual energy X-ray absortiometry), serum concentration of carboxy-telopeptide cross-links of type Ⅰ collagen (CTX, bone resorption marker) and alkaline phosphatase (ALP, bone formation marker) during the follow-up.Results After the cyclic infusions of ibandronate, the annual new fracture rate was significantly decreased from 1.9 to 0.13 time, obviously lower than that of calcitriol group, which decreased from 1.8 to 1.0 time after the treatment (P <0.001).The significant increase of BMD at the lumbar spine, femoral neck, trochanter, total hip was found in the group of ibandronate by 59.0%, 42.0%, 47.5% and 36.6% in time dependent manner (compared with the baseline, P <0.001). The increase of BMD in ibandronate group was greater than that of calcitriol group (P <0.001). The concentrations of ALP and CTX were obviously decreased in ibandronate group, and the reduction of CTX was more significant than that of ALP (P <0.001). The tolerance of the children to ibandronate was quite well. Mild fever and muscle pain were found in 9 cases within 1-3 days after the first infusion of ibandronate, which could relieve after 1-2 days without special management.Conclusions The benefits of cyclic infusions of ibandronate to children with OI are significant because ibandronate could significantly reduce annual bone fracture rate

  14. NOVEL SPLICING MUTATION OF COL1A1 GENE CAUSING OSTEOGENESIS IMPERFECTA TYPE I IN CHINESE PEDIGREE

    Institute of Scientific and Technical Information of China (English)

    WU Xiao-lin; GU Ming-min; CUI Bing; LI Xi-hua; LU Zhen-yu; WANG Zhu-gang; YUAN Wen-tao; SONG Huai-dong

    2007-01-01

    Objective To detect the peculiar mutation in a Chinese family with osteogenesis imperfecta,COL1A1 and COL1A2 being analysed. Methods A genome screen was undertaken covering COL1A1 at 17q21-22 and COL1A2 at 7q22.1. The Linkage ( Version 5.1 ) was used for 2-point analysis. DNA sequencing was used to screen and identify the mutation. Results A linkage to the markers on chromosome 17q21-22 was observed. Sequence analysis of COL1A1 revealed a splicing mutation ( IVS8-2A > G) that converted the 3' end of intron 8 from AG to GG. Conclusion This mutation ( IVS 8-2A > G) is novel, and has not yet been registered in the Human Type Ⅰ and Type Ⅲ Collagen Mutations Database.

  15. Rib cage deformities alter respiratory muscle action and chest wall function in patients with severe osteogenesis imperfecta.

    Directory of Open Access Journals (Sweden)

    Antonella LoMauro

    Full Text Available BACKGROUND: Osteogenesis imperfecta (OI is an inherited connective tissue disorder characterized by bone fragility, multiple fractures and significant chest wall deformities. Cardiopulmonary insufficiency is the leading cause of death in these patients. METHODS: Seven patients with severe OI type III, 15 with moderate OI type IV and 26 healthy subjects were studied. In addition to standard spirometry, rib cage geometry, breathing pattern and regional chest wall volume changes at rest in seated and supine position were assessed by opto-electronic plethysmography to investigate if structural modifications of the rib cage in OI have consequences on ventilatory pattern. One-way or two-way analysis of variance was performed to compare the results between the three groups and the two postures. RESULTS: Both OI type III and IV patients showed reduced FVC and FEV(1 compared to predicted values, on condition that updated reference equations are considered. In both positions, ventilation was lower in OI patients than control because of lower tidal volume (p<0.01. In contrast to OI type IV patients, whose chest wall geometry and function was normal, OI type III patients were characterized by reduced (p<0.01 angle at the sternum (pectus carinatum, paradoxical inspiratory inward motion of the pulmonary rib cage, significant thoraco-abdominal asynchronies and rib cage distortions in supine position (p<0.001. CONCLUSIONS: In conclusion, the restrictive respiratory pattern of Osteogenesis Imperfecta is closely related to the severity of the disease and to the sternal deformities. Pectus carinatum characterizes OI type III patients and alters respiratory muscles coordination, leading to chest wall and rib cage distortions and an inefficient ventilator pattern. OI type IV is characterized by lower alterations in the respiratory function. These findings suggest that functional assessment and treatment of OI should be differentiated in these two forms of the

  16. Due diligence

    International Nuclear Information System (INIS)

    The Occupational Health and Safety (OHS) Act requires that every employer shall ensure the health and safety of workers in the workplace. Issues regarding the practices at workplaces and how they should reflect the standards of due diligence were discussed. Due diligence was described as being the need for employers to identify hazards in the workplace and to take active steps to prevent workers from potentially dangerous incidents. The paper discussed various aspects of due diligence including policy, training, procedures, measurement and enforcement. The consequences of contravening the OHS Act were also described

  17. Osteochondritis dissecans of the lateral femoral condyle in a patient affected by osteogenesis imperfecta: a case report.

    Science.gov (United States)

    Persiani, Pietro; Di Domenica, Marica; Martini, Lorena; Ranaldi, Filippo M; Zambrano, Anna; Celli, Mauro; Villani, Ciro

    2015-11-01

    Osteochondritis dissecans is a very uncommon phenomenon in osteogenesis imperfecta (OI). A 14-year-old boy, affected by OI and followed in our Center for Congenital Osteodystrophies, had a knee trauma and MRI indicated a hollowed area of 2.5×1.5 cm in the lateral femoral condyle, which was classified as grade III. The patient underwent surgery, performed as a one-step surgical treatment: the osteochondral fragment was removed, curettage of lesion's bottom was performed, and a biphasic scaffold was used to fill the defect, implanted with a press-fit technique. MRI at 12 and 24 months after surgery showed scaffold integration. At the final follow-up, the patient did not feel any pain or articular limitations. It is difficult to provide a guideline on osteochondritis dissecans in patients affected by OI because of the lack of literature reports on this rare disorder in a rare disease. According to our experience, in these patients, osteosynthesis of the bone fragment and the use of autograft are not recommended because of the patient's bone weakness and osteoporosis. Moreover, compared with two-step surgery, one-step surgery is preferred to reduce the risk related to anesthesia, often observed to be higher in these patients. PMID:25919806

  18. Administration of soluble activin receptor 2B increases bone and muscle mass in a mouse model of osteogenesis imperfecta

    Institute of Scientific and Technical Information of China (English)

    Douglas J DiGirolamo; Vandana Singhal; Xiaoli Chang; Se-Jin Lee; Emily L Germain-Lee

    2015-01-01

    Osteogenesis imperfecta (OI) comprises a group of heritable connective tissue disorders generally defined by recurrent fractures, low bone mass, short stature and skeletal fragility. Beyond the skeletal complications of OI, many patients also report intolerance to physical activity, fatigue and muscle weakness. Indeed, recent studies have demonstrated that skeletal muscle is also negatively affected by OI, both directly and indirectly. Given the well-established interdependence of bone and skeletal muscle in both physiology and pathophysiology and the observations of skeletal muscle pathology in patients with OI, we investigated the therapeutic potential of simultaneous anabolic targeting of both bone and skeletal muscle using a soluble activin receptor 2B (ACVR2B) in a mouse model of type III OI (oim). Treatment of 12-week-old oim mice with ACVR2B for 4 weeks resulted in significant increases in both bone and muscle that were similar to those observed in healthy, wild-type littermates. This proof of concept study provides encouraging evidence for a holistic approach to treating the deleterious consequences of OI in the musculoskeletal system.

  19. Effect of high-dose vitamin D supplementation on bone density in youth with osteogenesis imperfecta: A randomized controlled trial.

    Science.gov (United States)

    Plante, Laura; Veilleux, Louis-Nicolas; Glorieux, Francis H; Weiler, Hope; Rauch, Frank

    2016-05-01

    Osteogenesis imperfecta (OI) is a heritable condition characterized by fragile bones. Our previous studies indicated that serum 25-hydroxyvitamin D (25OHD) concentrations were positively associated with lumbar spine areal bone mineral density (LS-aBMD) in children and adolescents with OI. Here we assessed whether one year of high-dose vitamin D supplementation results in higher LS-aBMD z-scores in youth with OI. A one-year double-blind randomized controlled trial conducted at a pediatric orthopedic hospital in Montreal, Canada. Sixty patients (age: 6.0 to 18.9years; 35 female) were randomized in equal numbers to receive either 400 or 2000international units (IU) of vitamin D, stratified according to baseline bisphosphonate treatment status and pubertal stage. At baseline, the average serum 25OHD concentration was 65.6nmol/L (SD 20.4) with no difference between treatment groups (p=0.77); 21% of patients had results OI more than supplementation with 400IU. However, in this study where about 80% of participants had baseline serum 25OHD concentrations ≥50nmol/L, this difference had no detectable effect on LS-aBMD z-scores. PMID:26924265

  20. Bone geometry, density and microarchitecture in the distal radius and tibia in adults with osteogenesis imperfecta type-1 assessed by HR-pQCT

    DEFF Research Database (Denmark)

    Folkestad, Lars; Hald, Jannie Dahl; Hansen, Stinus;

    2012-01-01

    Osteogenesis Imperfecta (OI) is a hereditary disorder characterized by decreased biosynthesis or impaired morphology of collagen type-1 that leads to decreased bone mass and increased bone fragility. We hypothesized that patients with OI have altered bone microstructure and bone geometry. In this...... treated with bisphosphonates. HR-pQCT at the distal radius and distal tibia and dual-energy X-ray absorptiomentry of total hip, femoral neck, trochanteric region and the lumbar spine (L1-L4) were performed. The patients were shorter than the controls (159¿±¿10¿cm vs. 170¿±¿9¿cm, p¿...

  1. The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen.

    OpenAIRE

    Cole, W G; Patterson, E; Bonadio, J; Campbell, P E; Fortune, D. W.

    1992-01-01

    The features of three babies with perinatal lethal osteogenesis imperfecta (OI II) resulting from substitutions of glycine by valine in the triple helical domain of the alpha 1(I) chain of type I collagen were studied. The babies were heterozygous for this substitution at residue 1006 in case 1 (OI35), 973 in case 2 (OI59), and 256 in case 3 (OI7B). OI35 had the most severe clinical form, OI IIC, with premature rupture of membranes, severe antepartum haemorrhage, stillbirth, severe short limb...

  2. A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II

    Energy Technology Data Exchange (ETDEWEB)

    Wang Haoyang [Institute of Laboratory Medicine, Jinling Hospital, School of Medicine, Nanjing University, Nanjing 210002 (China); Hou Yanning [Department of Stomatology, Third Affiliated Hospital, Nanjing Traditional Chinese Medicine University, Nanjing 210001 (China); Cui Yingxia [Institute of Laboratory Medicine, Jinling Hospital, School of Medicine, Nanjing University, Nanjing 210002 (China)], E-mail: cuiyx55@yahoo.com.cn; Huang Yufeng [Institute of Laboratory Medicine, Jinling Hospital, School of Medicine, Nanjing University, Nanjing 210002 (China)], E-mail: huangyf@androl.cn; Shi Yichao; Xia Xinyi; Lu Hongyong; Wang Yunhua; Li Xiaojun [Institute of Laboratory Medicine, Jinling Hospital, School of Medicine, Nanjing University, Nanjing 210002 (China)

    2009-03-09

    Twenty-four individuals were investigated that spanned six generations in a Chinese family affected with an apparently autosomal dominant form of dentinogenesis imperfecta type II (DGI-II, OMIM 125490). All affected individuals presented with typical, clinical and radiographic features of DGI-II, but without bilateral progressive high-frequency sensorineural hearing loss. To investigate the mutated molecule, a positional candidate approach was used to determine the mutated gene in this family. Genomic DNA was obtained from 24 affected individuals, 18 unaffected relatives of the family and 50 controls. Haplotype analysis was performed using leukocyte DNA for 6 short tandem repeat (STR) markers present in chromosome 4 (D4S1534, GATA62A11, DSPP, DMP1, SPP1 and D4S1563). In the critical region between D4S1534 and DMP1, the dentin sialophosphoprotein (DSPP) gene (OMIM *125485) was considered as the strongest candidate gene. The first four exons and exon/intron boundaries of the gene were analyzed using DNA from 24 affected individuals and 18 unaffected relatives of the same family. DNA sequencing revealed a heterozygous deletion mutation in intron 2 (at positions -3 to -25), which resulted in a frameshift mutation, that changed the acceptor site sequence from CAG to AAG (IVS2-3C{yields}A) and may also have disrupted the branch point consensus sequence in intron 2. The mutation was found in the 24 affected individuals, but not in the 18 unaffected relatives and 50 controls. The deletion was identified by allele-specific sequencing and denaturing high-performance liquid chromatography (DHPLC) analysis. We conclude that the heterozygous deletion mutation contributed to the pathogenesis of DGI-II.

  3. Recurrent Proximal Femur Fractures in a Teenager With Osteogenesis Imperfecta on Continuous Bisphosphonate Therapy: Are We Overtreating?

    Science.gov (United States)

    Vasanwala, Rashida F; Sanghrajka, Anish; Bishop, Nicholas J; Högler, Wolfgang

    2016-07-01

    Long-term bisphosphonate (BP) therapy in adults with osteoporosis is associated with atypical femoral fractures, caused by increased material bone density and prolonged suppression of bone remodeling which may reduce fracture toughness. In children with osteogenesis imperfecta (OI), long-term intravenous BP therapy improves bone structure and mass without further increasing the already hypermineralized bone matrix, and is generally regarded as safe. Here we report a teenage girl with OI type IV, who was started on cyclical intravenous pamidronate therapy at age 6 years because of recurrent fractures. Transiliac bone biopsy revealed classical structural features of OI but unusually low bone resorption surfaces. She made substantial improvements in functional ability, bone mass, and fracture rate. However, after 5 years of pamidronate therapy she started to develop recurrent, bilateral, nontraumatic, and proximal femur fractures, which satisfied the case definition for atypical femur fractures. Some fractures were preceded by periosteal reactions and prodromal pain. Pamidronate was discontinued after 7 years of therapy, following which she sustained two further nontraumatic femur fractures, and continued to show delayed tibial osteotomy healing. Despite rodding surgery, and very much in contrast to her affected, untreated, and normally mobile mother, she remains wheelchair-dependent. The case of this girl raises questions about the long-term safety of BP therapy in some children, in particular about the risk of oversuppressed bone remodeling with the potential for microcrack accumulation, delayed healing, and increased stiffness. The principal concern is whether there is point at which benefit from BP therapy could turn into harm, where fracture risk increases again. This case should stimulate debate whether current adult atypical femoral fracture guidance should apply to children, and whether low-frequency, low-dose cyclical, intermittent, or oral treatment

  4. A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II

    International Nuclear Information System (INIS)

    Twenty-four individuals were investigated that spanned six generations in a Chinese family affected with an apparently autosomal dominant form of dentinogenesis imperfecta type II (DGI-II, OMIM 125490). All affected individuals presented with typical, clinical and radiographic features of DGI-II, but without bilateral progressive high-frequency sensorineural hearing loss. To investigate the mutated molecule, a positional candidate approach was used to determine the mutated gene in this family. Genomic DNA was obtained from 24 affected individuals, 18 unaffected relatives of the family and 50 controls. Haplotype analysis was performed using leukocyte DNA for 6 short tandem repeat (STR) markers present in chromosome 4 (D4S1534, GATA62A11, DSPP, DMP1, SPP1 and D4S1563). In the critical region between D4S1534 and DMP1, the dentin sialophosphoprotein (DSPP) gene (OMIM *125485) was considered as the strongest candidate gene. The first four exons and exon/intron boundaries of the gene were analyzed using DNA from 24 affected individuals and 18 unaffected relatives of the same family. DNA sequencing revealed a heterozygous deletion mutation in intron 2 (at positions -3 to -25), which resulted in a frameshift mutation, that changed the acceptor site sequence from CAG to AAG (IVS2-3C→A) and may also have disrupted the branch point consensus sequence in intron 2. The mutation was found in the 24 affected individuals, but not in the 18 unaffected relatives and 50 controls. The deletion was identified by allele-specific sequencing and denaturing high-performance liquid chromatography (DHPLC) analysis. We conclude that the heterozygous deletion mutation contributed to the pathogenesis of DGI-II

  5. Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta

    Institute of Scientific and Technical Information of China (English)

    Zhenping Xu; Yulei Li; Xiangyang Zhang; Fanming Zeng; Mingxiong Yuan; Mugen Liu; Qing Kenneth Wang; Jing Yu Liu

    2011-01-01

    Osteogenesis imperfecta (OI, also known as brittle bone disease) is caused mostly by mutations in two type Ⅰ collagen genes, COL1A1 and COL1A2 encoding the pro-α1 (Ⅰ) and pro-α2 (Ⅰ) chains of type Ⅰ collagen, respectively. Two Chinese families with autosomal dominant OI were identified and characterized. Linkage analysis revealed linkage of both families to COL1A2 on chromosome 7q21.3-q22.1. Mutational analysis was carried out using direct DNA sequence analysis. Two novel missense mutations, c.3350A>G and c.3305G>C, were identified in exon 49 of COL1A2 in the two families, respectively. The c.3305G>C mutation resulted in substitution of a glycine residue (G) by an alanine residue (A) at codon 1102 (p.G1102A), which was found to be mutated into serine (S), argine (R), aspartic acid (D), or valine (V) in other families. The c.3350A>G variant may be a de novo mutation resulting in p.Y1117C. Both mutations co-segregated with OI in respective families, and were not found in 100 normal controls. The G1102 and Y1117 residues were evolutionarily highly conserved from zebrafish to humans. Mutational analysis did not identify any mutation in the COX-2 gene (a modifier gene of OI). This study identifies two novel mutations p.G1102A and p.Y1117C that cause OI, significantly expands the spectrum of COL1A2 mutations causing OI, and has a significant implication in prenatal diagnosis of OI.

  6. Partial Rescue of the Amelogenin Null Dental Enamel Phenotype*

    OpenAIRE

    LI, YONG; Suggs, Cynthia; Wright, J. Timothy; Yuan, Zhi-An; Aragon, Melissa; Fong, Hanson; Simmons, Darrin; Daly, Bill; Golub, Ellis E.; Harrison, Gerald; Kulkarni, Ashok B.; Gibson, Carolyn W.

    2008-01-01

    The amelogenins are the most abundant secreted proteins in developing dental enamel. Enamel from amelogenin (Amelx) null mice is hypoplastic and disorganized, similar to that observed in X-linked forms of the human enamel defect amelogenesis imperfecta resulting from amelogenin gene mutations. Both transgenic strains that express the most abundant amelogenin (TgM180) have relatively normal enamel, but strains of mice that express a mutated amelogenin (TgP70T), which leads to amelogenesis impe...

  7. Enhanced Wnt signaling improves bone mass and strength, but not brittleness, in the Col1a1(+/mov13) mouse model of type I Osteogenesis Imperfecta.

    Science.gov (United States)

    Jacobsen, Christina M; Schwartz, Marissa A; Roberts, Heather J; Lim, Kyung-Eun; Spevak, Lyudmila; Boskey, Adele L; Zurakowski, David; Robling, Alexander G; Warman, Matthew L

    2016-09-01

    Osteogenesis Imperfecta (OI) comprises a group of genetic skeletal fragility disorders. The mildest form of OI, Osteogenesis Imperfecta type I, is frequently caused by haploinsufficiency mutations in COL1A1, the gene encoding the α1(I) chain of type 1 collagen. Children with OI type I have a 95-fold higher fracture rate compared to unaffected children. Therapies for OI type I in the pediatric population are limited to anti-catabolic agents. In adults with osteoporosis, anabolic therapies that enhance Wnt signaling in bone improve bone mass, and ongoing clinical trials are determining if these therapies also reduce fracture risk. We performed a proof-of-principle experiment in mice to determine whether enhancing Wnt signaling in bone could benefit children with OI type I. We crossed a mouse model of OI type I (Col1a1(+/Mov13)) with a high bone mass (HBM) mouse (Lrp5(+/p.A214V)) that has increased bone strength from enhanced Wnt signaling. Offspring that inherited the OI and HBM alleles had higher bone mass and strength than mice that inherited the OI allele alone. However, OI+HBM and OI mice still had bones with lower ductility compared to wild-type mice. We conclude that enhancing Wnt signaling does not make OI bone normal, but does improve bone properties that could reduce fracture risk. Therefore, agents that enhance Wnt signaling are likely to benefit children and adults with OI type 1. PMID:27297606

  8. Dentinogenesis imperfecta in adults with osteogenesis imperfecta

    DEFF Research Database (Denmark)

    Gjørup, Hans; Hald, Jannie Dahl; Schmidt, Malene;

    Medical Endocrinology, Denmark. A clinical examination and a full-mouth periapical survey with digital intraoral radiographs using GX 1000 dental X-ray©, as well as a digital panoramic radiograph using the digital radiographic equipment Planmeca Promax© were performed. Patients had clinical photos taken....... In the evaluation of the dental hard tissues, signs of obliteration of pulp chambers, reduced length of roots, presence of pulp stones, taurodontism, and cervical constriction were assessed. Results: Among a total of 72 patients with OI, 20 (27.8 %) had DI. Obliteration and cervical constriction were...

  9. The influence of ibandronate treatment on bone density and biochemical bone markers in patients with osteogenesis imperfecta

    Directory of Open Access Journals (Sweden)

    Ingmar Ipach

    2012-09-01

    Full Text Available Osteogenesis imperfecta (OI is characterized by different signs including increased bone fragility, short stature, blue sclera, abnormal tooth growth and often secondary immobility. No curative therapy has been found for this rare disease up to now, and different pharmacological substances have been tried as treatment for severe forms of OI. Promising results were seen with intravenous bisphosphonates in the treatment of patients with OI. The aim of present study was to show the effect of intravenous ibandronate therapy on bone density and bone metabolism markers. We analyzed the data of 27 patients with the diagnosis of OI who were treated off-label with intravenous ibandronate. Ibandronate was administered by intravenous infusion every three months at a dosage of 0.3-2 mg. Bone turnover markers and bone density were measured before starting therapy and every three months during treatment. Bone density was measured by using an ultrasound imaging system providing an accurate image of the calcaneus and by evaluating broadband ultrasound attenuation (BUA. Twenty-seven patients were treated with intravenous iban- dronate during the observation period. 18 were female. The mean age of all patients was 23.9 years ± 19.6 (range 4-63. Seventeen patients were categorized to have OI Type I, 5 patients to have OI Type III and 5 patients to have OI Type IV. There was a statistically significant decrease in total alkaline phosphatase (P<0.0001. We detected also a statistically significant decrease in the ratio urinary deoxypyridinoline/urinary creatinine (P=0.0048 and the ratio urinary pyridinoline/urinary creatinine (P<0.0001 respectively. There was also a statistically significant increase in serum magnesium (P=0.034 and BUA (P=0.0071. No statistically significant changes were seen for total serum calcium (P=0.16, the ratio of urine calcium/urine creatinine (P=0.29, alkaline phosphatase (isoform bone (P=0.3, procollagen-I-peptide (P=0.5, osteocalcin (P=0

  10. Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfecta.

    Science.gov (United States)

    Masci, Marco; Wang, Min; Imbert, Laurianne; Barnes, Aileen M; Spevak, Lyudmila; Lukashova, Lyudmila; Huang, Yihe; Ma, Yan; Marini, Joan C; Jacobsen, Christina M; Warman, Matthew L; Boskey, Adele L

    2016-06-01

    The Col1a2(+/G610C) knock-in mouse, models osteogenesis imperfecta in a large old order Amish family (OOA) with type IV OI, caused by a G-to-T transversion at nucleotide 2098, which alters the gly-610 codon in the triple-helical domain of the α2(I) chain of type I collagen. Mineral and matrix properties of the long bones and vertebrae of male Col1a2(+/G610C) and their wild-type controls (Col1a2(+/+)), were characterized to gain insight into the role of α2-chain collagen mutations in mineralization. Additionally, we examined the rescuability of the composition by sclerostin inhibition initiated by crossing Col1a2(+/G610C) with an LRP(+/A214V) high bone mass allele. At age 10-days, vertebrae and tibia showed few alterations by micro-CT or Fourier transform infrared imaging (FTIRI). At 2-months-of-age, Col1a2(+/G610C) tibias had 13% fewer secondary trabeculae than Col1a2(+/+), these were thinner (11%) and more widely spaced (20%) than those of Col1a2(+/+) mice. Vertebrae of Col1a2(+/G610C) mice at 2-months also had lower bone volume fraction (38%), trabecular number (13%), thickness (13%) and connectivity density (32%) compared to Col1(a2+/+). The cortical bone of Col1a2(+/G610C) tibias at 2-months had 3% higher tissue mineral density compared to Col1a2(+/+); Col1a2(+/G610C) vertebrae had lower cortical thickness (29%), bone area (37%) and polar moment of inertia (38%) relative to Col1a2(+/+). FTIRI analysis, which provides information on bone chemical composition at ~7μm-spatial resolution, showed tibias at 10-days did not differ between genotypes. Comparing identical bone types in Col1a2(+/G610C) to Col1a2(+/+) at 2-months-of-age, tibias showed higher mineral-to-matrix ratio in trabeculae (17%) and cortices (31%). and in vertebral cortices (28%). Collagen maturity was 42% higher at 10-days-of-age in Col1a2(+/G610C) vertebral trabeculae and in 2-month tibial cortices (12%), vertebral trabeculae (42%) and vertebral cortices (12%). Higher acid-phosphate substitution

  11. Diagnóstico pré-natal e parto transpelviano na osteogênese imperfeita: relato de caso Prenatal diagnosis and vaginal delivery in osteogenesis imperfecta: a case report

    Directory of Open Access Journals (Sweden)

    Alex Sandro Rolland de Souza

    2006-04-01

    Full Text Available A osteogênese imperfeita é doença do tecido conjuntivo devida a anormalidades quantitativas ou qualitativas do colágeno tipo I, transmitida geneticamente, por gene autossômico dominante ou recessivo, que determina fragilidade óssea. Relata-se o caso clínico de paciente de 19 anos, primigesta, encaminhada ao setor de medicina fetal com ultra-sonografia pregressa evidenciando encurtamento de extremidades fetais. Na avaliação morfológica, identificou-se contorno craniano irregular com deformidade à compressão do pólo cefálico, membros com rizo e mesomelia, rarefação óssea e encurvamento de ossos longos (fraturas. A paciente evoluiu com parto transpelviano na 35ª semana de gestação. O recém-nascido apresentou Apgar de 6 no 1ª minuto e 8 no 5ª minuto, sexo masculino, pesando 1.990 gramas. Observado crânio irregular, ossificação diminuída, esclera azulada e fraturas consolidadas com deformidades em todos os membros. O recém-nascido apresentou boa evolução neonatal, recebendo alta hospitalar em boas condições. O diagnóstico pré-natal é de grande importância para adequado acompanhamento da gravidez e a via de parto transpelviana não ocasionou piora do prognóstico neonatal, pois não foram diagnosticadas fraturas recentes.Osteogenesis imperfecta is a connective tissue disorder due to quantitative and qualitative anomalies in type 1 collagen, genetically transmitted by a dominant or recessive autosomal gene, leading to bone fragility. We report a case of a 19-year-old G1 PO patient referred to our institution following a screening ultrasound that demonstrated short limb fetal extremities. A level 3 scan was performed which evidenced an irregular cranial shape and compression of the cephalic pole with moderate transducer pressure. Limb shortening, decreased echoes and fractures of long bones were found on our scan evaluation. A vaginal delivery occurred at 35 weeks of gestation. The male newborn, weighing 1.990 grams

  12. Osteogenesis Imperfecta Foundation

    Science.gov (United States)

    ... More IMPORTANT OIF CONFERENCE HOTEL INFORMATION The Walt Disney World Swan and Dolphin Hotel (2016 OIF National ... be held July 22-24, 2016 at Walt Disney World's Swan and Dolphin Hotel in Orlando, FL! ...

  13. Learning about Osteogenesis Imperfecta

    Science.gov (United States)

    ... to create a larger molecule called type I collagen. This type of collagen is the most common protein in bone, skin ... taken from a small skin biopsy. Changes in type I collagen are an indication of OI. DNA sequencing of ...

  14. Osteogenesis Imperfecta Overview

    Science.gov (United States)

    ... often from little or no apparent cause. A classification system of different types of OI is commonly ... TTY: 202-466-4315 Fax: 202-293-2356 Email: NIHBoneInfo@mail.nih.gov Website: http://www.bones. ...

  15.  Mutations of noncollagen genes in osteogenesis imperfecta – implications of the gene products in collagen biosynthesis and pathogenesis of disease

    Directory of Open Access Journals (Sweden)

    Anna Galicka

    2012-06-01

    Full Text Available  Recent investigations revealed that the “brittle bone” phenotype in osteogenesis imperfecta (OI is caused not only by dominant mutations in collagen type I genes, but also by recessively inherited mutations in genes responsible for the post-translational processing of type I procollagen as well as for bone formation. The phenotype of patients with mutations in noncollagen genes overlaps with very severe type III and lethal type II OI caused by mutations in collagen genes. Mutations in genes that encode proteins involved in collagen prolyl 3-hydroxylation (P3H1/CRTAP/CyPB eliminated Pro986 hydroxylation and caused an increase in modification of collagen helix by prolyl 4-hydroxylase and lysyl hydroxylase. However, the importance of these disturbances in the disease pathomechanism is not known. Loss of complex proteins’ function as collagen chaperones may dominate the disease mechanism. The latest findings added to the spectrum of OI-causing and collagen-influencing factors other chaperones (HSP47 and FKBP65 and protein BMP-1, which emphasizes the complexity of collagen folding and secretion as well as their importance in bone formation. Furthermore, mutations in genes encoding transcription factor SP7/Osterix and pigment epithelium-derived factor (PEDF constitute a novel mechanism for OI, which is independent of changes in biosynthesis and processing of collagen.

  16. Local amino acid sequence patterns dominate the heterogeneous phenotype for the collagen connective tissue disease Osteogenesis Imperfecta resulting from Gly mutations.

    Science.gov (United States)

    Xiao, Jianxi; Yang, Zhangfu; Sun, Xiuxia; Addabbo, Rayna; Baum, Jean

    2015-10-01

    Osteogenesis Imperfecta (OI), a hereditary connective tissue disease in collagen that arises from a single Gly → X mutation in the collagen chain, varies widely in phenotype from perinatal lethal to mild. It is unclear why there is such a large variation in the severity of the disease considering the repeating (Gly-X-Y)n sequence and the uniform rod-like structure of collagen. We systematically evaluate the effect of local (Gly-X-Y)n sequence around the mutation site on OI phenotype using integrated bio-statistical approaches, including odds ratio analysis and decision tree modeling. We show that different Gly → X mutations have different local sequence patterns that are correlated with lethal and nonlethal phenotypes providing a mechanism for understanding the sensitivity of local context in defining lethal and non-lethal OI. A number of important trends about which factors are related to OI phenotypes are revealed by the bio-statistical analyses; most striking is the complementary relationship between the placement of Pro residues and small residues and their correlation to OI phenotype. When Pro is present or small flexible residues are absent nearby a mutation site, the OI case tends to be lethal; when Pro is present or small flexible residues are absent further away from the mutation site, the OI case tends to be nonlethal. The analysis also reveals the dominant role of local sequence around mutation sites in the Major Ligand Binding Regions that are primarily responsible for collagen binding to its receptors and shows that non-lethal mutations are highly predicted by local sequence considerations alone whereas lethal mutations are not as easily predicted and may be a result of more complex interactions. Understanding the sequence determinants of OI mutations will enhance genetic counseling and help establish which steps in the collagen hierarchy to target for drug therapy. PMID:25980613

  17. Efficacy of Bisphosphonates on Bone Mineral Density and Fracture Rate in Patients With Osteogenesis Imperfecta: A Systematic Review and Meta-analysis.

    Science.gov (United States)

    Shi, Chang Gui; Zhang, Ying; Yuan, Wen

    2016-01-01

    Epidemiological evidence suggests that bisphosphonates are the most promising drugs for patients with osteogenesis imperfecta (OI). However, data on this issue are controversial. We conducted a meta-analysis to assess the efficacy of bisphosphonates on bone mineral density (BMD) and fracture rate in patients with OI. Electronic databases were searched to find relevant studies. Two reviewers independently identified relevant randomized controlled trials, which evaluated the efficacy of bisphosphonates in patients with OI. Outcome measures were fracture incidence and BMD changes in different skeletal sites. A total of 9 randomized controlled trials including 557 patients were identified. Meta-analysis demonstrated a beneficial effect of bisphosphonates on spine BMD Z-score and area BMD (in grams per square centimeter) %. Patients treated with bisphosphonates had a lower risk of fracture [risk ratio (RR) = 0.80; 95% confidence interval (CI): 0.66-0.97] compared with those in control groups. In children, bisphosphonates were efficacious in reducing fractures (RR = 0.80; 95% CI: 0.66-0.97), where in adults, bisphosphonates seemed equivalent to placebo in that respect (RR = 0.82; 95% CI: 0.42-1.59), although no significant difference was noted between these 2 RRs (test of interaction, z = -0.07; P = 0.94). There was also no significant difference in reducing fractures between oral and intravenous bisphosphonates (P = 0.23). This study showed that bisphosphonates could increase the BMD and reduce the risk of facture in patients with OI. There was no enough evidence to identify any differences in efficacy between oral and intravenous bisphosphonates on fracture reduction, as well as between children and adults. PMID:25844482

  18. Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment.

    Science.gov (United States)

    Sato, Atsuko; Ouellet, Jean; Muneta, Takeshi; Glorieux, Francis H; Rauch, Frank

    2016-05-01

    Bisphosphonates are widely used to treat children with osteogenesis imperfecta (OI), a bone fragility disorder that is most often caused by mutations in COL1A1 or COL1A2. However, it is unclear whether this treatment decreases the risk of developing scoliosis. We retrospectively evaluated spine radiographs and charts of 437 patients (227 female) with OI caused by mutations in COL1A1 or COL1A2 and compared the relationship between scoliosis, genotype and bisphosphonate treatment history. At the last follow-up (mean age 11.9 [SD: 5.9] years), 242 (55%) patients had scoliosis. The prevalence of scoliosis was highest in OI type III (89%), followed by OI type IV (61%) and OI type I (36%). Moderate to severe scoliosis (Cobb angle ≥25°) was rare in individuals with COL1A1 haploinsufficiency mutations but was present in about two fifth of patients with triple helical glycine substitutions or C-propeptide mutations. During the first 2 to 4years of bisphosphonate therapy, patients with OI type III had lower Cobb angle progression rates than before bisphosphonate treatment, whereas in OI types I and IV bisphosphonate treatment was not associated with a change in Cobb angle progression rates. At skeletal maturity, the prevalence of scoliosis (Cobb angle >10°) was similar in patients who had started bisphosphonate treatment early in life (before 5.0years of age) and in patients who had started therapy later (after the age of 10.0years) or had never received bisphosphonate therapy. Bisphosphonate treatment decreased progression rate of scoliosis in OI type III but there was no evidence of a positive effect on scoliosis in OI types I and IV. The prevalence of scoliosis at maturity was not influenced by the bisphosphonate treatment history in any OI type. PMID:26927310

  19. Role of genes in oro-dental diseases

    Directory of Open Access Journals (Sweden)

    Kavitha B

    2010-01-01

    Full Text Available In oral cavity, the spectrum of diseases due to genetic alterations ranges from developmental disturbances of teeth to the pre-cancerous and cancerous lesions. Of late, significant progress has been made in the molecular analysis of tumors. With molecular genetic testing emerging as diagnostic, prognostic, and therapeutic approach, a review of genetic alterations ranging from the development of oro-facial structures to the tumors in the head and neck region are addressed in this article. The functional regulatory aspect of genes in relation to oro-facial structures are discussed separately, i.e., in relation to tooth genesis, tooth agenesis (non-syndromic, syndromic, tooth structural alterations, syndromic oro-facial defects, bone diseases, skin diseases (genodermatoses, and malignant tumors. In this literature, various genes involved in the development of the oro-facial structures and tooth in particular are discussed. The genetic basis of disorders in the tooth development (agenesis, hypodontia, tooth structural defects like amelogenesis imperfecta (AI, dentinogenesis imperfecta (DI, and oro-facial structural alterations (various syndromes are explained.

  20. 牙本质发育不全Ⅱ型患者的(牙合)重建治疗%Occlusal reconstruction for patients with dentinogenesis imperfecta type Ⅱ

    Institute of Scientific and Technical Information of China (English)

    凌月华; 黄庆丰; 赵军

    2011-01-01

    目的 对牙本质发育不全Ⅱ型(DGI-Ⅱ)患者进行(牙合)重建修复,观察疗效并总结修复要点.方法 收集1个DGI-Ⅱ的家系资料,对先证者(患者1,女性,21岁)及其亲属(患者2,男性,40岁)的临床特征、修复过程和随访情况进行回顾性分析.结果 2例DGI-Ⅱ患者均以牙列重度磨耗为主要特征,其中患者2伴上下牙列缺损.患者1经牙合重建、冠延长后行烤瓷固定修复;患者2经(牙合)重建后以可摘局部义齿修复.修复后1年进行随访,患者主观感觉和临床检查均显示美观及咀嚼和发音功能均得到明显改善.结论 DGI-Ⅱ的修复应以阻断磨损及重建咬(牙合)为原则,在(牙合)重建基础上的固定或可摘局部义齿修复效果良好.%Objective To perform occlusal reconstruction for patients with dentinogenesis imperfecta type II ( DGI- D ), observe the clinic effect and summarize the clinical experience. Methods The data of one family of DCI- II were collected, and the clinical characteristics, treatment process and follow-up status of the proband (patient 1, female, 21 years old) and her relative (patient 2, male, 40 years) were retrospectively analysed. Results The main feature of these two cases of DGI-Ⅱ was severe wear of the dentition, including upper and lower dentition defect in patient 2. After occlusal reconstruction and crown lengthening, patient 1 was restored by ceramic fixed partial denture to reconstruct the occlusion. Patient 2 was restored by removal partial denture after occlusal reconstruction. Patients were followed up 1 year after prosthetic treatment, and the subjective feelings of patients and clinical examinations indicated that the esthetics, mastication function and pronunciation of patients were significantly improved. Conclusion The principle of prosthetic treatment of patients with DGI- Ⅱ should be occlusal reconstruction of worn dentition. Occlusal reconstruction in combination with fixed or removable

  1. Human due diligence.

    Science.gov (United States)

    Harding, David; Rouse, Ted

    2007-04-01

    Most companies do a thorough job of financial due diligence when they acquire other companies. But all too often, deal makers simply ignore or underestimate the significance of people issues in mergers and acquisitions. The consequences are severe. Most obviously, there's a high degree of talent loss after a deal's announcement. To make matters worse, differences in decision-making styles lead to infighting; integration stalls; and productivity declines. The good news is that human due diligence can help companies avoid these problems. Done early enough, it helps acquirers decide whether to embrace or kill a deal and determine the price they are willing to pay. It also lays the groundwork for smooth integration. When acquirers have done their homework, they can uncover capability gaps, points of friction, and differences in decision making. Even more important, they can make the critical "people" decisions-who stays, who goes, who runs the combined business, what to do with the rank and file-at the time the deal is announced or shortly thereafter. Making such decisions within the first 30 days is critical to the success of a deal. Hostile situations clearly make things more difficult, but companies can and must still do a certain amount of human due diligence to reduce the inevitable fallout from the acquisition process and smooth the integration. This article details the steps involved in conducting human due diligence. The approach is structured around answering five basic questions: Who is the cultural acquirer? What kind of organization do you want? Will the two cultures mesh? Who are the people you most want to retain? And how will rank-and-file employees react to the deal? Unless an acquiring company has answered these questions to its satisfaction, the acquisition it is making will be very likely to end badly. PMID:17432159

  2. Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

    Science.gov (United States)

    Jaureguiberry, Graciana; De la Dure-Molla, Muriel; Parry, David; Quentric, Mickael; Himmerkus, Nina; Koike, Toshiyasu; Poulter, James; Klootwijk, Enriko; Robinette, Steven L.; Howie, Alexander J.; Patel, Vaksha; Figueres, Marie-Lucile; Stanescu, Horia C.; Issler, Naomi; Nicholson, Jeremy K.; Bockenhauer, Detlef; Laing, Christopher; Walsh, Stephen B.; McCredie, David A.; Povey, Sue; Asselin, Audrey; Picard, Arnaud; Coulomb, Aurore; Medlar, Alan J.; Bailleul-Forestier, Isabelle; Verloes, Alain; Le Caignec, Cedric; Roussey, Gwenaelle; Guiol, Julien; Isidor, Bertrand; Logan, Clare; Shore, Roger; Johnson, Colin; Inglehearn, Christopher; Al-Bahlani, Suhaila; Schmittbuhl, Matthieu; Clauss, François; Huckert, Mathilde; Laugel, Virginie; Ginglinger, Emmanuelle; Pajarola, Sandra; Spartà, Giuseppina; Bartholdi, Deborah; Rauch, Anita; Addor, Marie-Claude; Yamaguti, Paulo M.; Safatle, Heloisa P.; Acevedo, Ana Carolina; Martelli-Júnior, Hercílio; dos Santos Netos, Pedro E.; Coletta, Ricardo D.; Gruessel, Sandra; Sandmann, Carolin; Ruehmann, Denise; Langman, Craig B.; Scheinman, Steven J.; Ozdemir-Ozenen, Didem; Hart, Thomas C.; Hart, P. Suzanne; Neugebauer, Ute; Schlatter, Eberhard; Houillier, Pascal; Gahl, William A.; Vikkula, Miikka; Bloch-Zupan, Agnès; Bleich, Markus; Kitagawa, Hiroshi; Unwin, Robert J.; Mighell, Alan; Berdal, Ariane; Kleta, Robert

    2013-01-01

    Background/Aims Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood. Methods We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing. Results All patients had bi-allelic FAM20A mutations segregating with the disease; 20 different mutations were identified. Conclusions This au-tosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis. PMID:23434854

  3. FAM20A binds to and regulates FAM20C localization

    OpenAIRE

    Yoshio Ohyama; Ju-Hsien Lin; Nattanan Govitvattana; I-Ping Lin; Sundharamani Venkitapathi; Ahmed Alamoudi; Dina Husein; Chunying An; Hak Hotta; Masaru Kaku; Yoshiyuki Mochida

    2016-01-01

    Mutations in the Family with sequence similarity (FAM) 20 gene family are associated with mineralized tissue phenotypes in humans. Among these genes, FAM20A mutations are associated with Amelogenesis Imperfecta (AI) with gingival hyperplasia and nephrocalcinosis, while FAM20C mutations cause Raine syndrome, exhibiting bone and craniofacial/dental abnormalities. Although it has been demonstrated that Raine syndrome associated-FAM20C mutants prevented FAM20C kinase activity and secretion, overe...

  4. MMP20 Promotes a Smooth Enamel Surface, a Strong DEJ, and a Decussating Enamel Rod Pattern

    OpenAIRE

    Bartlett, John D.; Skobe, Ziedonis; Nanci, Antonio; Smith, Charles E.

    2011-01-01

    Mutations of the Matrix metalloproteinase-20 (MMP20, enamelysin) gene cause autosomal recessive amelogenesis imperfecta and Mmp20 ablated mice also have malformed dental enamel. Here we show that Mmp20 null mouse secretory stage ameloblasts maintained a columnar shape and were present as a single layer of cells. However, the null maturation stage ameloblasts covered extraneous nodules of ectopic calcified material formed at the enamel surface. Remarkably, nodule formation occurs in null mouse...

  5. Functions of KLK4 and MMP-20 in dental enamel formation

    OpenAIRE

    Lu, Yuhe; Papagerakis, Petros; Yamakoshi, Yasuo; Hu, Jan C-C.; Bartlett, John D.; Simmer, James P.

    2008-01-01

    Two proteases are secreted into the enamel matrix of developing teeth. The early protease is enamelysin (MMP-20). The late protease is kallikrein 4 (KLK4). Mutations in MMP20 and KLK4 both cause autosomal recessive amelogenesis imperfecta, a condition featuring soft, porous enamel containing residual protein. MMP-20 is secreted along with enamel proteins by secretory stage ameloblasts. Enamel protein cleavage products accumulate in the space between the crystal ribbons, helping to support the...

  6. Evolution of Klk4 and enamel maturation in eutherians

    OpenAIRE

    Kawasaki, Kazuhiko; Hu, Jan C.-C.; Simmer, James P.

    2014-01-01

    Kallikrein-related peptidase 4 (KLK4) is a secreted serine protease that degrades residual enamel proteins to facilitate their removal by ameloblasts, which increases mineralization and hardens the enamel. Mutations in human KLK4 cause hypomaturation amelogenesis imperfecta. Enamel formed by Klk4 null mice is normal in thickness and prism structure, but the enamel layer retains proteins, is hypomineralized, and undergoes rapid attrition following tooth eruption. We searched multiple databases...

  7. Novel KLK4 and MMP20 Mutations Discovered by Whole-exome Sequencing

    OpenAIRE

    Wang, S.-K.; Hu, Y.; Simmer, J.P.; Seymen, F; Estrella, N.M.R.P.; Pal, S.; Reid, B.M.; Yildirim, M.; Bayram, M.; Bartlett, J.D.; Hu, J.C.-C.

    2013-01-01

    Non-syndromic amelogenesis imperfecta (AI) is a collection of isolated inherited enamel malformations that follow X-linked, autosomal-dominant, or autosomal-recessive patterns of inheritance. The AI phenotype is also found in syndromes. We hypothesized that whole-exome sequencing of AI probands showing simplex or recessive patterns of inheritance would identify causative mutations among the known candidate genes for AI. DNA samples obtained from 12 unrelated probands with AI were analyzed. Di...

  8. Myths about OI (Osteogenesis Imperfecta)

    Science.gov (United States)

    ... Subscribe to the Breakthrough Newsletter or E-News Myths about OI In the United States, any disease ... successful, and satisfying lives. The following list of myths describes some of the most common misinformation about ...

  9. Fast Facts on Osteogenesis Imperfecta

    Science.gov (United States)

    ... a negative result could mean that either a collagen type I mutation is present but was not detected ... mutation in a gene coding for type I collagen (Types I, II, III, and IV in the following ...

  10. Genetics Home Reference: osteogenesis imperfecta

    Science.gov (United States)

    ... proteins that are used to assemble type I collagen. This type of collagen is the most abundant protein in bone, skin, ... gene. These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to ...

  11. Child Abuse or Osteogenesis Imperfecta?

    Science.gov (United States)

    ... bodies to make either too little type 1 collagen or poor quality type 1 collagen. The result is bones that break ... evident at birth. • Small stature with underdeveloped lungs. • Collagen is improperly formed. Type III (Progressive) • Progressive bone deformity, often severe. • Bones ...

  12. Avaliação clínica, radiográfica e laboratorial de pacientes com osteogênese imperfeita Clinical, radiographic and laboratory evaluation of patients with osteogenesis imperfecta

    Directory of Open Access Journals (Sweden)

    Cláudio Santili

    2005-08-01

    Full Text Available OBJETIVOS: A osteogênese imperfeita (OI é uma doença genética, caracterizando-se por alterações no colágeno do tipo I, que determinam um espectro amplo de alterações clínicas, como a dentinogênese imperfeita e escleras azuladas. O objetivo deste estudo é estabelecer uma correlação prática no diagnóstico diferencial intergrupos dentro da classificação de Sillence et al. (1979. MÉTODOS: Foram avaliados 22 pacientes mediante critérios clínicos e radiográficos. Após, a subdivisão de acordo com os tipos de Sillence et al. (1979, os pacientes foram também submetidos à avaliação laboratorial e à densitometria óssea. RESULTADOS: Os dados significantes para diferenciação entre os tipos da doença foram a estatura, o número total de fraturas por indivíduo e a densitometria óssea. O cálcio sérico não diferencia os tipos da doença. CONCLUSÕES: Características como a deambulação, a estatura e a densitometria óssea podem auxiliar na diferenciação entre os subtipos dos portadores da doença, repercutindo diretamente no estabelecimento do seu prognóstico.BACKGROUND: Osteogenesis imperfecta is a genetic disorder characterized by defects in type I collagen. The main symptom is bone fragility and susceptibility to fractures. Other clinical findings are dentinogenesis imperfecta, blue sclera, early deafness and joint laxity. The purpose of this paper is to establish a practical relationship of the clinical differences between the Sillence's groups. METHODS: 22 patients were classified according to Sillence et al criteria and submitted to laboratory tests including blood calcium level and bone densitometry. RESULTS: All clinical and laboratory differences were discussed in the text. CONCLUSIONS: Differences such as results that were found in walking ability, height and bone densitometry were significant and may help to classify patients and to establish prognosis.

  13. A treatment approach combining fixed and removable partial dentures:a clinical report for dentinogenesis imperfecta%固定义齿联合活动义齿修复牙本质发育不全患者1例

    Institute of Scientific and Technical Information of China (English)

    索来; 陈志强; 罗锋; 李中杰; 万乾炳

    2015-01-01

    Dentinogenesis imperfecta(DI) is a hereditary disease that results in defective dentin, especially in permanent dentition. This disease is clinically characterized by yellow-brown teeth, with enamel fracture and excessive abrasion. This disease is a challenge inprosthodontic treatment. This report describes an alternative treatment for DI-affected teeth by combining fixed and removable partial dentures.%牙本质发育不全(DI)是一种遗传性疾病,患者牙本质发生病变,尤其多发于恒牙。患牙临床表现为棕黄色、釉质缺失、过度磨耗等,修复治疗这类牙具有极高的挑战性。本文报道1例用固定义齿联合活动义齿修复牙本质发育不全的患者。

  14. Onychomycosis Due to Nondermatophytic Molds

    OpenAIRE

    Hwang, Sung Min; Suh, Moo Kyu; Ha, Gyoung Yim

    2012-01-01

    Background Although there have been many studies about onychomycosis due to nondermatophytic molds (NDM), few studies about etiologic agents including NDM in onychomycosis have been reported in Korea. Objective: This study investigated onychomycosis due to NDM in the Gyeongju area of Korea. Objective This study investigated onychomycosis due to NDM in the Gyeongju area of Korea. Methods In the 10-year period from 1999~2009, we reviewed 59 patients with onychomycosis due to NDM. The etiologic ...

  15. The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement.

    Science.gov (United States)

    Bailleul-Forestier, Isabelle; Berdal, Ariane; Vinckier, Frans; de Ravel, Thomy; Fryns, Jean Pierre; Verloes, Alain

    2008-01-01

    Teeth are specialized structural components of the craniofacial skeleton. Developmental defects occur either alone or in combination with other birth defects. In this paper, we review the dental anomalies in several multiple congenital anomaly (MCA) syndromes, in which the dental component is pivotal in the recognition of the phenotype and/or the molecular basis of the disorder is known. We will consider successively syndromic forms of amelogenesis imperfecta or enamel defects, dentinogenesis imperfecta (i.e. osteogenesis imperfecta) and other dentine anomalies. Focusing on dental aspects, we will review a selection of MCA syndromes associated with teeth number and/or shape anomalies. A better knowledge of the dental phenotype may contribute to an earlier diagnosis of some MCA syndromes involving teeth anomalies. They may serve as a diagnostic indicator or help confirm a syndrome diagnosis. PMID:18599376

  16. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

    Science.gov (United States)

    Prasad, Megana K; Geoffroy, Véronique; Vicaire, Serge; Jost, Bernard; Dumas, Michael; Le Gras, Stéphanie; Switala, Marzena; Gasse, Barbara; Laugel-Haushalter, Virginie; Paschaki, Marie; Leheup, Bruno; Droz, Dominique; Dalstein, Amelie; Loing, Adeline; Grollemund, Bruno; Muller-Bolla, Michèle; Lopez-Cazaux, Séréna; Minoux, Maryline; Jung, Sophie; Obry, Frédéric; Vogt, Vincent; Davideau, Jean-Luc; Davit-Beal, Tiphaine; Kaiser, Anne-Sophie; Moog, Ute; Richard, Béatrice; Morrier, Jean-Jacques; Duprez, Jean-Pierre; Odent, Sylvie; Bailleul-Forestier, Isabelle; Rousset, Monique Marie; Merametdijan, Laure; Toutain, Annick; Joseph, Clara; Giuliano, Fabienne; Dahlet, Jean-Christophe; Courval, Aymeric; El Alloussi, Mustapha; Laouina, Samir; Soskin, Sylvie; Guffon, Nathalie; Dieux, Anne; Doray, Bérénice; Feierabend, Stephanie; Ginglinger, Emmanuelle; Fournier, Benjamin; de la Dure Molla, Muriel; Alembik, Yves; Tardieu, Corinne; Clauss, François; Berdal, Ariane; Stoetzel, Corinne; Manière, Marie Cécile; Dollfus, Hélène; Bloch-Zupan, Agnès

    2016-01-01

    Background Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular diagnosis can be challenging. We aimed to develop a targeted next-generation sequencing (NGS) assay to diagnose mutations and potentially identify novel genes mutated in this group of disorders. Methods We designed an NGS gene panel that targets 585 known and candidate genes in orodental disease. We screened a cohort of 101 unrelated patients without a molecular diagnosis referred to the Reference Centre for Oro-Dental Manifestations of Rare Diseases, Strasbourg, France, for a variety of orodental disorders including isolated and syndromic amelogenesis imperfecta (AI), isolated and syndromic selective tooth agenesis (STHAG), isolated and syndromic dentinogenesis imperfecta, isolated dentin dysplasia, otodental dysplasia and primary failure of tooth eruption. Results We discovered 21 novel pathogenic variants and identified the causative mutation in 39 unrelated patients in known genes (overall diagnostic rate: 39%). Among the largest subcohorts of patients with isolated AI (50 unrelated patients) and isolated STHAG (21 unrelated patients), we had a definitive diagnosis in 14 (27%) and 15 cases (71%), respectively. Surprisingly, COL17A1 mutations accounted for the majority of autosomal-dominant AI cases. Conclusions We have developed a novel targeted NGS assay for the efficient molecular diagnosis of a wide variety of orodental diseases. Furthermore, our panel will contribute to better understanding the contribution of these genes to orodental disease. Trial registration numbers NCT01746121 and NCT02397824. PMID:26502894

  17. Dues tombes romanes a Llafranc

    OpenAIRE

    Carreras, E; Nolla, Josep Maria; Barti, A.; R. Plana

    2004-01-01

    El descobriment de dues inhumacions acompanyades d'ofrenes que van ser recuperades i salvades, permet realitzar un estudi detallat i fixar amb precisió la data dels enterraments que ajuden a precisar la història de la necròpoli romana de Llafranc

  18. Amelogenins as Potential Buffers during Secretory-stage Amelogenesis

    OpenAIRE

    Guo, J.; Lyaruu, D. M.; Y. Takano; Gibson, C W; DenBesten, P.K.; Bronckers, A.L.J.J.

    2015-01-01

    Amelogenins are the most abundant protein species in forming dental enamel, taken to regulate crystal shape and crystal growth. Unprotonated amelogenins can bind protons, suggesting that amelogenins could regulate the pH in enamel in situ. We hypothesized that without amelogenins the enamel would acidify unless ameloblasts were buffered by alternative ways. To investigate this, we measured the mineral and chloride content in incisor enamel of amelogenin-knockout (AmelX-/-) mice and determined...

  19. Parotitis due to anaerobic bacteria.

    Science.gov (United States)

    Matlow, A; Korentager, R; Keystone, E; Bohnen, J

    1988-01-01

    Although Staphylococcus aureus remains the pathogen most commonly implicated in acute suppurative parotitis, the pathogenic role of gram-negative facultative anaerobic bacteria and strict anaerobic organisms in this disease is becoming increasingly recognized. This report describes a case of parotitis due to Bacteroides disiens in an elderly woman with Sjögren's syndrome. Literature reports on seven additional cases of suppurative parotitis due to anaerobic bacteria are reviewed. Initial therapy of acute suppurative parotitis should include coverage for S. aureus and, in a very ill patient, coverage of gram-negative facultative organisms with antibiotics such as cloxacillin and an aminoglycoside. A failure to respond clinically to such a regimen or isolation of anaerobic bacteria should lead to the consideration of the addition of clindamycin or penicillin. PMID:3287567

  20. Autoerotic death due to electrocution

    Directory of Open Access Journals (Sweden)

    Piotr Arkuszewski

    2014-08-01

    Full Text Available Autoerotic death is a very rare case in forensic medicine. It is usually caused by asphyxia, but other reasons are also possible. Herein we present a case of autoerotic death due to electrocution caused by a self-made electrical device. The device was constructed to increase sexual feelings through stimulation of the scrotal area.

  1. Dose due to 40K

    International Nuclear Information System (INIS)

    The dose due to 40K has been estimated. Potassium is one of the most abundant elements in nature, being approximately 2% of the Earth's crust. Potassium has three isotopes 39K, 40K and 41K, two are stable while 40K is radioactive with a half life of 1.2x109 years; there is 0.0117% 40K-to-K ratio. Potassium plays an important role in plants, animals and humans growth and reproduction. Due to the fact that K is an essential element for humans, 40K is the most abundant radioisotope in human body. In order to keep good health conditions K must be intake at daily basis trough food and beverages, however when K in ingested above the requirements produce adverse health effects in persons with renal, cardiac and hypertension problems or suffering diabetes. In 89.3% 40K decays to 40C through β-decay, in 10.3% decays through electronic capture and emitting 1.46 MeV γ-ray. K is abundant in soil, construction materials, sand thus γ-rays produced during 40K decay contribute to external dose. For K in the body practically all 40K decaying energy is absorbed by the body; thus 40K contributes to total dose in humans and it is important to evaluate its contribution. In this work a set of 40K sources were prepared using different amounts of KCl salt, a γ-ray spectrometer with a NaI(Tl) was characterized to standardized the sources in order to evaluate the dose due to 40K. Using thermoluminescent dosemeters the dose due to 40K was measured and related to the amount of 40K γ-ray activity. (Author)

  2. Interference due to coherence swapping

    Indian Academy of Sciences (India)

    Arun Kumar Pati; Marek Zukowski

    2001-02-01

    We propose a method called ‘coherence swapping’ which enables us to create superposition of a particle in two distinct paths, which is fed with initially incoherent, independent radiation. This phenomenon is also present for the charged particles, and can be used to swap the effect of flux line due to the Aharonov–Bohm effect. We propose an optical version of experimental set-up to test the coherence swapping. The phenomenon, which is simpler than entanglement swapping or teleportation, raises some fundamental questions about the true nature of wave-particle duality, and also opens up the possibility of studying the quantum erasure from a new angle.

  3. Decoherence due to Scattering Atoms

    Science.gov (United States)

    Uys, Hermann; Perreault, John; Cronin, Alex

    2004-05-01

    Coherent manipulation of a quantum system is difficult because of uncontrolled interactions with the system's environment. The study of decoherence so introduced is important for progress in quantum mechanical engineering, and for understanding the transition from quantum to classical behavior. We have observed loss of fringe contrast in a Mach-Zhender atom interferometer due to scattering background gas atoms and propose that this might be interpreted as quantum decoherence. Progress will be reported on the use of a general model of decoherence incorporating a semi-classical picture of atom scattering to explain the contrast loss [1]. A formal analogy is made to decoherence due to scattering photons from atoms in an interferometer [2]. [1] S.M. Tan, D.F. Waals, ``Loss of coherence in interferometry", Phys. Rev. A 47 p.4663 (1993) [2] D.A. Kokorowski, A.D. Cronin, T.D. Roberts, and D.E. Pritchard, ``From single- to multiple-photon decoherence in an atom interferometer", Phys. Rev. Lett. 86 p. 2191 (2001)

  4. Occupational injuries due to violence.

    Science.gov (United States)

    Hales, T; Seligman, P J; Newman, S C; Timbrook, C L

    1988-06-01

    Each year in the United States, an estimated 800 to 1,400 people are murdered at work, and an unknown number of nonfatal injuries due to workplace violence occur. Based on Ohio's workers' compensation claims from 1983 through 1985, police officers, gasoline service station employees, employees of the real estate industry, and hotel/motel employees were found to be at the highest risk for occupational violent crime (OVC) injury and death. Grocery store employees, specifically those working in convenience food stores, and employees of the real estate industry had the most reported rapes. Four previously unidentified industries at increased risk of employee victimization were described. Identification of industries and occupations at high risk for crime victimization provides the opportunity to focus preventive strategies to promote employee safety and security in the workplace. PMID:3392614

  5. Collisional Aggregation Due to Turbulence

    Science.gov (United States)

    Pumir, Alain; Wilkinson, Michael

    2016-03-01

    Collisions between particles suspended in a fluid play an important role in many physical processes. As an example, collisions of microscopic water droplets in clouds are a necessary step in the production of macroscopic raindrops. Collisions of dust grains are also conjectured to be important for planet formation in the gas surrounding young stars and to play a role in the dynamics of sand storms. In these processes, collisions are favored by fast turbulent motions. Here we review recent advances in the understanding of collisional aggregation due to turbulence. We discuss the role of fractal clustering of particles and caustic singularities of their velocities. We also discuss limitations of the Smoluchowski equation for modeling such processes. These advances lead to a semiquantitative understanding on the influence of turbulence on collision rates and point to deficiencies in the current understanding of rainfall and planet formation.

  6. Collisional Aggregation due to Turbulence

    CERN Document Server

    Pumir, Alain

    2015-01-01

    Collisions between particles suspended in a fluid play an important role in many physical processes. As an example, collisions of microscopic water droplets in clouds are a necessary step in the production of macroscopic raindrops. Collisions of dust grains are also conjectured to be important for planet formation in the gas surrounding young stars, and also to play a role in the dynamics of sand storms. In these processes, collisions are favoured by fast turbulent motions. Here we review recent advances in the understanding of collisional aggregation due to turbulence. We discuss the role of fractal clustering of particles, and caustic singularities of their velocities. We also discuss limitations of the Smoluchowski equation for modelling these processes. These advances lead to a semi-quantitative understanding on the influence of turbulence on collision rates, and point to deficiencies in the current understanding of rainfall and planet formation.

  7. Pulmonary Complications due to Esophagectomy

    Directory of Open Access Journals (Sweden)

    Yashar Talebi

    2011-08-01

    Full Text Available Introduction: Esophageal carcinoma is the scourge of human beings. Pulmonary compli-cations in patients who have undergone operation are common (20-30% of cases and there are no suitable tools and ways to predict these complications. Methods: During a period of 10 years, from March 1998 to February 2007, 200 patients (150 male and 50 female underwent Esophagectomy due to esophageal carcinoma in thoracic surgery ward retrospectively. Complications include the length of hospitalization, mechanical ventilation, morbidity and mortality. Patients’ risk factors include age, preoperative chemo-radiotherapy, stage of the disease and preoperative spirometry condition. Results: We grouped our patients into three categories: Normal (FEV1 ≥ 80% predicted, mildly impaired (FEV1 65% to 79% predicted, more severely impaired (FEV1 < 65% predicted.Although almost all patients had radiographic pulmonary abnormalities, significant pulmonary complications occurred in 40 patients (20% which underwent Esophagectomy. Pleural effusion and atelectasia in 160 patients (80%. 24 patients needed chest-tube insertion. 20 patients (10% developed ARDS. 14 patients (7% developed chylothorax. 20 patients (10% of patients died during their postoperative hospital stay. 30 patients (15% required mechanical ventilation for greater than 48 hours. Conclusion: We reviewed a number of preoperative clinical variables to determine whether they contributed to postoperative pulmonary complications as well as other outcomes. In general, age, impaired pulmonary function especially in those patients with FEV1 less than 65% predicted was associated with prolonged hospital length of stay (LOS. In fact pulmonary complications rate after Esophagectomy are high and there was associated mortality and morbidity.

  8. Sobrevida de uma haste intramedular extensível (HIMEX no tratamento de crianças com ostegênese imperfeita Survival rates of the HIMEX extensible nail in the treatment of children with osteogenesis imperfecta

    Directory of Open Access Journals (Sweden)

    William Dias Belangero

    2010-01-01

    Full Text Available OBJETIVO: avaliar o desempenho da haste extensível ancorada por ganchos (HIMEX em deformidades da osteogênese imperfeita (OI. MÉTODOS: Todas as crianças operadas com HIMEX entre 1990 - 2004. Foi comparado o número de fraturas, reaparecimento de deformidades e capacidade de deambulação antes e após a HIMEX; incidência de migração e sobrevida da haste por curvas de sobrevivência. RESULTADOS: 14 pacientes (2 a 18 anos, oito do sexo feminino, incluindo 46 procedimentos, 39 primários e sete re-operações. Idade média na primeira fratura de 148,21 dias e média de 42,6 fraturas/paciente pré colocação da HIMEX. Dos 46 procedimentos, 28 no fêmur e 18 na tíbia. Tempo médio de seguimento de 80,21 ± 36,71 meses. Houve diminuição significativa de fraturas/paciente (0,78 e melhora na deambulação em sete dos 14 pacientes. Porcentagem de re-operação de 18% e migração do implante em 12% (05/39. 80 % dos implantes in situ até 108 meses. Implantes na tíbia tiveram sobrevida significativamente menor que os do fêmur. O tipo da OI e a idade na época da cirurgia não influenciaram significativamente a incidência de re-operação. CONCLUSÃO: A HIMEX levou à redução significativa no número de fraturas, incidência menor de migração e sobrevida maior da haste do que a referida na literatura.OBJECTIVE: To evaluate the performance of an extensible nail with hooks, named HIMEX, in osteogenesis imperfecta (OI deformities. METHODS: All child patients were operated on with HIMEX from 1990 to 2004. The number of fractures, reappearance of deformities, improvement of motor development before and after the use of HIMEX, and the incidence of the migration and nail survival were compared. RESULTS: Fourteen patients, with ages from 2 to 18 years, including 8 females, underwent 46 procedures, 39 primary and 7 re-operations. The average age at the first fracture was 148.21 days, and there was an average of 42.6 fractures per patient prior to

  9. What to Expect After Your Due Date

    Science.gov (United States)

    ... Management Education & Events Advocacy For Patients About ACOG What to Expect After Your Due Date Home For ... Your Due Date FAQ069, August 2011 PDF Format What to Expect After Your Due Date Pregnancy What ...

  10. Planning for Your Child's Surgery (Osteogenesis Imperfecta)

    Science.gov (United States)

    ... pill, tablet, or liquid. Some medicines have a bad taste. Find out ahead of time if your ... parents include conference calls, contributing to a class project or sending e-mails to the class. Many ...

  11. Heart disease in patients with osteogenesis imperfecta

    DEFF Research Database (Denmark)

    Ashournia, Hamoun; Johansen, Frank Ted; Folkestad, Lars;

    2015-01-01

    described, less is known about the effects of decreased collagen on other organs. In the heart, collagen type 1 is present in the heart valves, chordae tendineae, annuli fibrosi and the interventricular septum. It is thus likely that the heart is affected in OI. OBJECTIVES: The aim of this systematic...... commonly reported heart diseases amongst the patients with OI were valvulopathies and increased aortic diameter. Findings in the large case series and the cross-sectional studies were broadly similar to each other. CONCLUSION: The findings support the hypothesis that patients with OI have increased risk of...... heart disease compared to healthy controls. It is biologically plausible that patients with OI may have an increased risk of developing heart disease, and valve disease in particular....

  12. Genetics And Tooth Anomalies - An Update

    Directory of Open Access Journals (Sweden)

    Aswathy Brahmanandan

    2013-01-01

    Full Text Available Tooth development like the development of all epithelial appendages is regulated by inductive tissue interactions between epithelium and mesenchyme. Numerous genes interact, either act in conjunction or antagonize each other in odontogenesis. A number of different mesenchymal molecules and their receptors act as mediators in epithelial mesenchymal interactions. Several genes linked with early tooth positioning and developments belong to signaling pathways and have morphogenesis regulatory functions in morphogenesis of other organs. Their mutations often show pleiotropic effects beyond dental morphogenesis. In contrast, certain genes involved in enamel and dentin structures are highly specific for tooth. Mutations in these genes have been identified as causes of Amelogenesis Imperfecta (AI, Dentinogenesis Imperfecta (DI, Dentin Dysplasia (DD and anomalies in tooth number. This article focuses on genetic basis of inherited non-syndromic teeth disorders.

  13. Renal artery stenosis due to neurofibromatosis

    OpenAIRE

    Malav Ishwar; Kothari S

    2009-01-01

    A 4-year-old boy with hypertension due to renal artery stenosis and neurofibromatosis type 1 is presented for its rarity. Renal artery stenosis due to neurofibromatosis is underrecognized and may masquerade Takayasu′s arteritis in Asian children.

  14. 34 CFR 602.25 - Due process.

    Science.gov (United States)

    2010-07-01

    ... 34 Education 3 2010-07-01 2010-07-01 false Due process. 602.25 Section 602.25 Education... Required Operating Policies and Procedures § 602.25 Due process. The agency must demonstrate that the procedures it uses throughout the accrediting process satisfy due process. The agency meets this...

  15. Vaginal discharge due to primary varicella

    OpenAIRE

    Ajith C; Gupta Somesh; Ratho Radha; Narang Tarun

    2008-01-01

    Cervicitis is an important cause of abnormal vaginal discharge. We describe a case of vaginal discharge due to cervicitis caused by primary varicella zoster infection in a patient with chronic immunosuppression. Though a few reports of genital infection due to chicken pox are available, to the best of our knowledge, there are no reports of abnormal vaginal discharge due to cervicitis caused by chicken pox.

  16. Vaginal discharge due to primary varicella

    Directory of Open Access Journals (Sweden)

    Ajith C

    2008-01-01

    Full Text Available Cervicitis is an important cause of abnormal vaginal discharge. We describe a case of vaginal discharge due to cervicitis caused by primary varicella zoster infection in a patient with chronic immunosuppression. Though a few reports of genital infection due to chicken pox are available, to the best of our knowledge, there are no reports of abnormal vaginal discharge due to cervicitis caused by chicken pox.

  17. Unwanted effects due to cosmetics - a review

    NARCIS (Netherlands)

    Schnuch, A.

    2007-01-01

    Cosmetics are a heterogeneous group of products, consisting of products abundantly used as shampoos or cleansing agents on the one hand, and of products not so frequently used as those applied for decorative purposes such as nail cosmetics. Due to a differing frequency of use and due to differing (c

  18. 5 CFR 732.301 - Due process.

    Science.gov (United States)

    2010-01-01

    ... 5 Administrative Personnel 2 2010-01-01 2010-01-01 false Due process. 732.301 Section 732.301 Administrative Personnel OFFICE OF PERSONNEL MANAGEMENT (CONTINUED) CIVIL SERVICE REGULATIONS (CONTINUED... any determination. (b) Comply with all applicable administrative due process requirements, as...

  19. Acute Myocardial Infarction Due To Electrical Injury

    OpenAIRE

    Uzkeser M et al.

    2011-01-01

    Rhythm abnormalities (conduction defects, tachycardia, and arrhythmia)due to electric shock are common. Rarely, myocardial infarction may beseen in these patients. This situation is generally caused by coronaryartery vasospasm and direct myocardial damage. In this report, wepresent a rare case of myocardial infarction due to electric shock.

  20. Ventilatory failure due to improper capnography connector

    OpenAIRE

    Prakash, Ravi; Kushwaha, Brij B.; Singh, Brijesh Pratap

    2014-01-01

    Ventilatory failure due to improper or loose breathing circuit connection can occur in anaesthetic practice and may lead to significant morbidity and mortility. We report here an unusual incidence of ventilatory failure due loose capnography connector which obstructed the outer tube of Bain's circuit and presented as airway obstruction.

  1. Procedural Due Process Rights in Student Discipline.

    Science.gov (United States)

    Pressman, Robert; Weinstein, Susan

    To assist administrators in understanding procedural due process rights in student discipline, this manual draws together hundreds of citations and case summaries of federal and state court decisions and provides detailed commentary as well. Chapter 1 outlines the general principles of procedural due process rights in student discipline, such as…

  2. Turbulent momentum transport due to neoclassical flows

    CERN Document Server

    Lee, Jungpyo; Parra, Felix I; Belli, Emily; Candy, Jeff

    2015-01-01

    Intrinsic toroidal rotation in a tokamak can be driven by turbulent momentum transport due to neoclassical flow effects breaking a symmetry of turbulence. In this paper we categorize the contributions due to neoclassical effects to the turbulent momentum transport, and evaluate each contribution using gyrokinetic simulations. We find that the relative importance of each contribution changes with collisionality. For low collisionality, the dominant contributions come from neoclassical particle and parallel flows. For moderate collisionality, there are non- negligible contributions due to neoclassical poloidal electric field and poloidal gradients of density and temperature, which are not important for low collisionality.

  3. A solution NMR investigation into the impaired self-assembly properties of two murine amelogenins containing the point mutations T21→I or P41→T

    Energy Technology Data Exchange (ETDEWEB)

    Buchko, Garry W.; Lin, Genyao; Tarasevich, Barbara J.; Shaw, Wendy J.

    2013-08-26

    Amelogenesis imperfecta describes a group of inherited disorders that results in defective tooth enamel. Two disorders associated with human amelogenesis imperfecta are the point mutations T21?I or P40?T in amelogenin, the dominant protein present during the early stages of enamel biomineralization. The biophysical properties of wildtype murine amelogenin (M180) and two proteins containing the equivalent mutations in murine amelogenin, T21?I (M180-I) and P41?T (M180-T), were probed by NMR spectroscopy. At low protein concentration (0.1 mM), M180, M180-I, and M180-T are predomi- nately monomeric at pH 3.0 in 2% acetic acid and neither mutation produces a major structural change. Chemical shift perturbation studies as a function of protein (0.1–1.8 mM) or NaCl (0–400 mM) concentra- tions show that the mutations affect the self-association properties by causing self-assembly at lower protein or salt concentrations, relative to wildtype amelogenin, with the largest effect observed for M180-I. Under both conditions, the premature self-assembly is initiated near the N-terminus, providing further evidence for the importance of this region in the self-assembly process. The self-association of M180-I and M180-T at lower protein concentrations and lower ionic strengths than wildtype M180 may account for the clinical phenotypes of these mutations, defective enamel formation.

  4. Marsis e Sharad: due rabdomanti italiani

    Directory of Open Access Journals (Sweden)

    Fabrizio Bernardini

    2004-07-01

    Full Text Available La risposta al più enigmatico quesito su Marte, che potrebbe decisamente alterare i piani di esplorazione umana del pianeta, giungerà da due strumenti italiani assolutamente unici nel loro genere

  5. REVIEW ON LOCAL SCOUR DUE TO JETS

    Institute of Scientific and Technical Information of China (English)

    Arindam SARKAR; Subhasish DEY

    2004-01-01

    The safety of an apron of the energy dissipator is threatened by the large-scale scour in the downstream of the apron due to the erosive action of a horizontal jet issuing from a sluice opening. Also, large-scale deposition of the scoured sediments due to an impinging jet in a plunging pool type energy dissipator affects the passage of flow adversely in the downstream channels. Owing to the significant practical importance, the problem of local scour due to jets has been studied by many investigators. In this paper, a comprehensive review of the up-to-date investigations on local scour due to horizontal and impinging jets is presented including all possible aspects, such as scouring process, parameters affecting scour, time variation of scour,velocity distribution on the apron and within the scour hole, development of boundary layer thickness, bed shear stress, scour estimation formulas and protection works.

  6. Recurrent renal hyperparathyroidism due to parathyromatosis

    OpenAIRE

    Vulpio, Carlo; D’Errico, Giovanni; Mattoli, Maria Vittoria; Bossola, Maurizio; Lodoli, Claudio; Fadda, Guido; Bruno, Isabella; Giordano, Alessandro; Castagneto, Marco

    2011-01-01

    Parathyromatosis is the most severe type of recurrent secondary hyperparathyroidism (SHPT) after parathyroidectomy (PTX) in haemodialysis patients. It is difficult to completely remove all foci of parathyroid tissue and neck re-explorations are often required. Here, we report for the first time a case of recurrent SHPT due to parathyromatosis treated by radio-guided PTX. A haemodialysed 48-year-old woman with recurrent SHPT due to parathyromatosis was treated by radio-guided PTX. Preoperative...

  7. Colonic urticaria pattern due to early ischemia

    International Nuclear Information System (INIS)

    The unusual radiographic pattern of bleb-like mounds on the surface of the colon mucosa, previously described as colonic urticaria, was seen in 3 patients in whom no allergic state was present. This urticaria-like pattern was due to colonic distention in all 3, and represented only submucosal edema on the gross and microscopic specimens. We hypothesize that this pattern is due to early changes of ischemia caused by colon distention. (orig.)

  8. Brainstem haematoma due to presumed cryptic telangiectasia.

    OpenAIRE

    Howard, R S

    1986-01-01

    Three patients with primary brainstem haematoma are reported. The clinical presentation suggested an initial diagnosis of pontine tumour in two and demyelination in one patient. The subacute course is characteristic of brainstem haematoma due to presumed cryptic telangiectasia, the abnormal vessels being destroyed by the haemorrhage. These findings emphasise the importance of considering haematoma due to cryptic telangiectasia in the differential diagnosis of subacute brainstem lesions.

  9. Due diligence duties for an environmental liability

    International Nuclear Information System (INIS)

    Jurisdiction turned out well to create a basic ruling for due diligence duties. These due diligence duties are high standards for the law of torts (outside of contracts) within the Austrian civil law and represent a liability-extension for the holder of the source of danger. They establish an action for injunction in particular for preventing (further) damages. Therewith due diligence duties get a general sense in the range of a civil law for environmental liability. The responsible holder of a danger zone will therefore influence his way of acting to protect potential victims and the environment. The burden of proof is on the plaintiff (victims) under the Civil Code. Victims have specific sources of danger including high endangering special facilities in their argumentation with the so-called prima-facie-proof or first-appearance-proof. A turning back of the presentation of evidence to the polluter is wrong. The polluter himself has a continuing liability for dangerous activities and his clerks in the case of an extremely high danger of damage. All due diligence duties can be arranged in three areas: in information-, danger-avoidance- and danger-prevention-duties. The determination of range and essence of the duties has to be adjusted to each individual case. The range of the specific danger area is the essential link. The intensity of due diligence duties is increasing with the size of danger in the way of a movable system depending on the protected interest. Due diligence duties have to be kept within reasonable limits with two criterions: necessarity and demand. Proportionality of actions is a third criterion to avoid exaggeration of due diligence duties to obtain an effective protection for victims including the environment. (author)

  10. Angioedema-Urticaria Due to Acitretin.

    Science.gov (United States)

    Solak, Berna; Metin, Nurcan; Erdem, Mustafa Teoman

    2016-01-01

    Acitretin is a synthetic oral retinoid that has been used for a number of dermatological diseases. Several side effects of acitretin have been reported such as teratogenicity, cheilitis, xerosis, dyslipidemia, and photosensitivity. Many drugs, mainly antibiotics and nonsteroidal anti-inflammatory drugs, can cause angioedema-urticaria. We present the case of angioedema-urticaria due to acitretin, confirmed by oral provocation test, in a 61-year-old man with psoriasis. To the best of our knowledge, only 1 case of angioedema due to oral acitretin has been reported in the literature so far. We report this case to draw attention that acitretin may cause angioedema-urticaria and to inform patients about this risk besides other side effects due to acitretin. PMID:26820109

  11. [Cervical actinomycosis due to Actinomyces naeslundii].

    Science.gov (United States)

    Kimura, Hiroshi

    2011-07-01

    Actinomyces naeslundii, an oral biofilm bacterium of, can be cured using intravenous piperacillin, clindamycin, and surgery. We report a case of cervical actinomycosis due to Actinomyces naeslundii. A 56-year-old man seen for right cervical swelling had undergone dental work. Computed tomography indicated an abscess, from which we aspirated pus using a needle. Although no sulfur granules were found, pus yielded Actinomyces naeslundii. This case is, to our knowledge, the first reported in Japan of cervical actinomycosis due to A. naeslundii. PMID:21838058

  12. Craniopharyngioma with hyperprolactinaemia due to a prolactinoma.

    OpenAIRE

    Wheatley, T; Clark, J D; Stewart, S.

    1986-01-01

    A case is presented in which a histologically proven prolactin secreting pituitary macroadenoma was associated with a large suprasellar craniopharyngioma. The pre-operative prolactin concentration was 8180 mU/l. Although hyperprolactinaemia up to 3000 mU/l in patients with a craniopharyngioma is usually due to stalk compression, greater values may indicate an associated prolactinoma.

  13. Supraventricular Tachycardia Atackt Due to Losewieght Drug

    OpenAIRE

    Murat Yalcin

    2016-01-01

    Obesity is an important health problem. Treatment of obesity includes diet, exercise and drugs. Some of these drugs are out of prescription. Advers effects of these drugs have not been known. In this report; we present a case with supraventricular tachycardia attack due to loseweight drug containing mangostana (mango), hibiscus, citrus mate, L-karnitin, guarana.

  14. Supraventricular Tachycardia Atackt Due to Losewieght Drug

    Directory of Open Access Journals (Sweden)

    Murat Yalcin

    2016-01-01

    Full Text Available Obesity is an important health problem. Treatment of obesity includes diet, exercise and drugs. Some of these drugs are out of prescription. Advers effects of these drugs have not been known. In this report; we present a case with supraventricular tachycardia attack due to loseweight drug containing mangostana (mango, hibiscus, citrus mate, L-karnitin, guarana.

  15. Proton decay due to d=5 operators

    International Nuclear Information System (INIS)

    Proton decay due to d=5 operators in SUSY GUT models are considered. Matrix elements of appearing four fermion operators are calculated. Experimental lower bound for proton life time lead to an upper bound for W-bosino Majorana mass: Msub(lambdasub(W)) 31 years

  16. Sickness absence due to depressive symptoms

    NARCIS (Netherlands)

    Koopmans, P. C.; Roelen, C. A. M.; Groothoff, J. W.

    2008-01-01

    Objective There is no information on the duration of absence of depressed Dutch workers. The aim of this study was to determine the duration of sickness absence due to depressive symptoms in the working population. Methods In this observational study of 15% of the Dutch working population, all absen

  17. Inherited peripheral neuropathies due to mitochondrial disorders.

    Science.gov (United States)

    Cassereau, J; Codron, P; Funalot, B

    2014-05-01

    Mitochondrial disorders (MIDs) are frequently responsible for neuropathies with variable severity. Mitochondrial diseases causing peripheral neuropathies (PNP) may be due to mutations of mitochondrial DNA (mtDNA), as is the case in MERRF and MELAS syndromes, or to mutations of nuclear genes. Secondary abnormalities of mtDNA (such as multiple deletions of muscle mtDNA) may result from mitochondrial disorders due to mutations in nuclear genes involved in mtDNA maintenance. This is the case in several syndromes caused by impaired mtDNA maintenance, such as Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoplegia (SANDO) due to recessive mutations in the POLG gene, which encodes the catalytic subunit of mtDNA polymerase (DNA polymerase gamma), or Mitochondrial Neuro-Gastro-Intestinal Encephalomyopathy (MNGIE), due to recessive mutations in the TYMP gene, which encodes thymidine phosphorylase. The last years have seen a growing list of evidence demonstrating that mitochondrial bioenergetics and dynamics might be dysfunctional in axonal Charcot-Marie-Tooth disease (CMT2), and these mechanisms might present a common link between dissimilar CMT2-causing genes. PMID:24768438

  18. Contact dermatitis due to Alstroemeria (Peruvian lily).

    Science.gov (United States)

    Apted, J H

    1990-01-01

    Two cases of hand dermatitis due to contact with the plant Alstroemeria (Peruvian Lily) are recorded. This plant has been increasingly used for making floral decorations during the last decade. As it is available throughout the year in Victoria more cases are likely to be discovered in the community. PMID:2151361

  19. Ratchet due to broken friction symmetry

    DEFF Research Database (Denmark)

    Norden, Bengt; Zolotaryuk, Yaroslav; Christiansen, Peter Leth;

    2002-01-01

    A ratchet mechanism that occurs due to asymmetric dependence of the friction of a moving system on its velocity or a driving force is reported. For this kind of ratchet, instead of a particle moving in a periodic potential, the dynamics of which have broken space-time symmetry, the system must be...

  20. Internal dosimetric evaluation due to uranium aerosols

    International Nuclear Information System (INIS)

    The present work has like object to carry out the internal dosimetric evaluation to the occupationally exposed personnel, due to the inhalation of aerosols of natural uranium and enriched in the pilot plant of nuclear fuel production of the National Institute of Nuclear Research

  1. Spinal cord compression due to metastases

    International Nuclear Information System (INIS)

    A study of 20 patients with medullary compression syndrome due to lesions not related to the central nervous system is presented. Plain films of the spine and myelography are made to determine the level of osseous involvement, the level of the spinal block and to planning radiotherapy. (Author)

  2. Hair transplantation in alopecia due to radiation

    International Nuclear Information System (INIS)

    Two cases of alopecia due to radiation of the scalp are presented in which it has been possible to achieve a technically and cosmetically satisfactory reconstruction by punch hair grafting. This does not mean that every case is suitable, but it does mean that those without contraindications should at least be given a try

  3. Hair transplantation in alopecia due to radiation

    Energy Technology Data Exchange (ETDEWEB)

    Nordstroem, R.E.; Holsti, L.R.

    1983-10-01

    Two cases of alopecia due to radiation of the scalp are presented in which it has been possible to achieve a technically and cosmetically satisfactory reconstruction by punch hair grafting. This does not mean that every case is suitable, but it does mean that those without contraindications should at least be given a try.

  4. Due diligence responsibilities of the professional geologist

    International Nuclear Information System (INIS)

    Whether in the role of independent consultant or company employee, a geologist has certain professional obligations in the evaluation of an oil and gas submittal from a third party. 'Due diligence' is the term used to describe the analysis of an investment opportunity. Due diligence involves a multidisciplinary examination of both the technical and business aspects of a submittal. In addition to the obvious geological considerations, prospect evaluations should include relevant details about the specific technical documentation reviewed, information sources, and how the data were verified. Full disclosure of ownership, technical risks, and negative aspects of the prospect should be included along with the positive elements. After the geological analysis is completed, the economic merits of the prospect should be analyzed, incorporating all lease burdens and terms of participation into the calculations. Estimated exploration, development, and operating costs, together with projected annual production, cash flow, and reserves must be examined as to their reasonableness. Finally, the due diligence review should include a thorough check on the reputation, financial condition, technical and managerial expertise, and prior track record of the operator. Bank, trade, legal, and prior partner references should be contacted. The successful professional geologist in today's competitive world must have multidisciplinary skills. A solid background in geology and geophysics, a basic understanding of the principles of petroleum engineering and economics, and the wits of a private eye are needed for good due diligence work

  5. Cough Syncope due to ACE Inhibitor

    Directory of Open Access Journals (Sweden)

    Filiz Koc

    2015-09-01

    Full Text Available Syncope is defined as a transient loss of consciousness due to sudden temporary decline in cerebral perfusion. Cough syncope is classically seen in middle aged obese men with obstructive pulmonary disease. In patients that use Angiotensin converting enzyme (ACE inhibitors, a dry persistent cough can emerge due to the side effects of this medication. Seventy years old male patient that use ACE inhibitor for hypertension accepted to the clinic with the complaint of syncope. A bout of coughing has developed during electroencephalography recording and 10 seconds in duration of subcortical like epileptiform discharges were viewed. The ACE inhibitor the patient was receiving was replaced with calcium channel blocker and no complaint was observed during the follow up period. [Cukurova Med J 2015; 40(3.000: 619-622

  6. Fixed drug eruption due to levocetirizine.

    Science.gov (United States)

    Jhaj, Ratinder; Asati, Dinesh Prasad; Chaudhary, Deepa

    2016-01-01

    A fixed drug eruption (FDE) is a cutaneous adverse drug reaction due to Type IV or delayed cell-mediated hypersensitivity. Antihistamines, which antagonize the action of histamine during an allergic reaction by blocking the H1 histamine receptors, are used routinely for the treatment of various allergic disorders such as urticaria, eczemas, and also in itchy lesions of skin like scabies. Levocetirizine, an active (R)-enantiomer of cetirizine, is a newer or second generation antihistamine, with more specific actions and fewer side effects, including cutaneous reactions. FDE due to levocetirizine as well as with cetirizine are rare. We report a case of levocetirizine induced FDE in a 49-year-old male patient with scabies. The patient had a history of cetirizine induced FDE in the past. PMID:27440959

  7. Fixed drug eruption due to levocetirizine

    Directory of Open Access Journals (Sweden)

    Ratinder Jhaj

    2016-01-01

    Full Text Available A fixed drug eruption (FDE is a cutaneous adverse drug reaction due to Type IV or delayed cell-mediated hypersensitivity. Antihistamines, which antagonize the action of histamine during an allergic reaction by blocking the H 1 histamine receptors, are used routinely for the treatment of various allergic disorders such as urticaria, eczemas, and also in itchy lesions of skin like scabies.Levocetirizine, an active (R-enantiomer of cetirizine, is a newer or second generation antihistamine, with more specific actions and fewer side effects, including cutaneous reactions. FDE due to levocetirizine as well as with cetirizine are rare. We report a case of levocetirizine induced FDE in a 49-year-old male patient with scabies. The patient had a history of cetirizine induced FDE in the past.

  8. Lift force due to odd (Hall) viscosity

    CERN Document Server

    Kogan, E

    2016-01-01

    We study the problem of flow past an infinite cylinder at right angle to its axis at low Reynolds number when the fluid is characterised by broken time-reversal invariance, and hence by odd viscosity in addition to the normal even one. We solve the Oseen approximation to Navier-Stokes equation and calculate the lift force which appears due to the odd viscosity.

  9. Dose due to {sup 40}K

    Energy Technology Data Exchange (ETDEWEB)

    Escareno J, E.; Vega C, H. R., E-mail: edmundoej@hotmail.com [Universidad Autonoma de Zacatecas, Unidad Academica de Estudios Nucleares, Calle Cipres No. 10, Fracc. La Penuela, 98068 Zacatecas (Mexico)

    2011-10-15

    The dose due to {sup 40}K has been estimated. Potassium is one of the most abundant elements in nature, being approximately 2% of the Earth's crust. Potassium has three isotopes {sup 39}K, {sup 40}K and {sup 41}K, two are stable while {sup 40}K is radioactive with a half life of 1.2x10{sup 9} years; there is 0.0117% {sup 40}K-to-K ratio. Potassium plays an important role in plants, animals and humans growth and reproduction. Due to the fact that K is an essential element for humans, {sup 40}K is the most abundant radioisotope in human body. In order to keep good health conditions K must be intake at daily basis trough food and beverages, however when K in ingested above the requirements produce adverse health effects in persons with renal, cardiac and hypertension problems or suffering diabetes. In 89.3% {sup 40}K decays to {sup 40}C through {beta}-decay, in 10.3% decays through electronic capture and emitting 1.46 MeV {gamma}-ray. K is abundant in soil, construction materials, sand thus {gamma}-rays produced during {sup 40}K decay contribute to external dose. For K in the body practically all {sup 40}K decaying energy is absorbed by the body; thus {sup 40}K contributes to total dose in humans and it is important to evaluate its contribution. In this work a set of {sup 40}K sources were prepared using different amounts of KCl salt, a {gamma}-ray spectrometer with a NaI(Tl) was characterized to standardized the sources in order to evaluate the dose due to {sup 40}K. Using thermoluminescent dosemeters the dose due to {sup 40}K was measured and related to the amount of {sup 40}K {gamma}-ray activity. (Author)

  10. Spontaneous enterocutaneous fistula due to femoral hernia

    OpenAIRE

    Kumar, Awanish; Pahwa, Harvinder Singh; Pandey, Anand; Kumar, Suresh

    2012-01-01

    Spontaneous enterocutaneous fistula is a rare entity. We encountered a case of spontaneous enterocutaneous fistula in the groin region due to femoral hernia. A 60-year-old man presented with spontaneous enterocutaneous fistula in the left groin region without signs of peritonitis. He was kept on conservative treatment, but on third postadmission day, he developed a swelling in his right groin, which became firm and irreducible with signs of intestinal obstruction. On exploratory laparotomy, b...

  11. Large leg ulcers due to autoimmune diseases

    OpenAIRE

    Rozin, Alexander P; Egozi, Dana; Ramon, Yehuda; Toledano, Kohava; Braun-Moscovici, Yolanda; Markovits, Doron; Schapira, Daniel; Bergman, Reuven; Melamed, Yehuda; Ullman, Yehuda; Balbir-Gurman, Alexandra

    2011-01-01

    Summary Background Large leg ulcers (LLU) may complicate autoimmune diseases. They pose a therapeutic challenge and are often resistant to treatment. To report three cases of autoimmune diseases complicated with LLU. Case Report Case 1. A 55-year old woman presented with long-standing painful LLU due to mixed connective tissue disease (MCTD). Biopsy from the ulcer edge showed small vessel vasculitis. IV methylprednisolone (MethP) 1 G/day, prednisolone (PR) 1mg/kg, monthly IV cyclophosphamide ...

  12. Hydraulic Resistance due to Emergent Wetland Vegetation

    OpenAIRE

    Piercy, Candice Dawn

    2010-01-01

    Models to estimate hydraulic resistance due to vegetation in emergent wetlands are crucial to wetland design and management. Hydraulic models that consider vegetation rely on an accurate determination of a resistance parameter such as a friction factor or a bulk drag coefficient. At low Reynolds numbers typical of flows in wetlands, hydraulic resistance is orders of magnitude higher than fully turbulent flows and resistance parameters are functions of the flow regime as well as the vegetation...

  13. Anaphylaxis due to thiopental sodium anesthesia.

    OpenAIRE

    Dolovich, J; Evans, S.; Rosenbloom, D; Goodacre, R; Rafajac, F O

    1980-01-01

    Anaphylaxis due to an anesthetic is one type of cardiovascular emergency that can occur during general anesthesia. Anaphylactic reactions to muscle relaxants have been documented. Barbiturates, used as sedatives, are well known to produce cutaneous reactions, but anaphylaxis after their ingestion seems to be rare. Generalized allergic reactions to thiopental sodium during anesthesia are mentioned in the product monograph for Penthothal sodium, and rare case reports of anaphylactic reactions t...

  14. Muscular dystrophies due to glycosylation defects

    OpenAIRE

    Muntoni, Francesco; Torelli, Silvia; Brockington, Martin

    2008-01-01

    In the last few years, muscular dystrophies due to reduced glycosylation of alpha-dystroglycan (ADG) have emerged as a common group of conditions, now referred to as dystroglycanopathies. Mutations in six genes (POMT1, POMT2, POMGnT1, Fukutin, FKRP and LARGE) have so far been identified in patients with a dystroglycanopathy. Allelic mutations in each of these genes can result in a wide spectrum of clinical conditions, ranging from severe congenital onset with associated structural brain malfo...

  15. Stretch due to Penile Prosthesis Reservoir Migration

    OpenAIRE

    Baten, E.; Vandewalle, T.; van Renterghem, K.

    2016-01-01

    A 43-year old patient presented to the emergency department with stretch, due to impossible deflation of the penile prosthesis, 4 years after successful implant. A CT-scan showed migration of the reservoir to the left rectus abdominis muscle. Refilling of the reservoir was inhibited by muscular compression, causing stretch. Removal and replacement of the reservoir was performed, after which the prosthesis was well-functioning again. Migration of the penile prosthesis reservoir is extremely ra...

  16. ON DAMPING COEFFICIENT DUE TO PHASE TRANSFORMATION

    Institute of Scientific and Technical Information of China (English)

    Din-YuHSIEH

    2003-01-01

    The damping coefficient of capillary waves due to the evaporation-condensation process at the interface of the two phases of a fluid is evaluated. To highlight the mechanism of the effect of heat and mass transfer across the interface between regions of liquid and vapor, potential flow of incompressible fluids are assumed. Thus other mechanisms of damping are neglected. To fascilitate the analysis, the method of multiple-scale is employed in the analysis, even though the problem is linear.

  17. Phonic Attenuation due to Screen-Barriers

    OpenAIRE

    Vasile Bacria; Nicolae Herişanu

    2011-01-01

    The technique of noise decreasing admits two basic approaches: an active approach and a passive one. In the frame of passive method one can count the employment of screen-barriers. In this paper we present some considerations on sound attenuation due to screen-barriers emphasizing the elements which influence it. The elucidation of these elements is made by measurements. The obtained results can be applied in every other practical situation concerning the protection against ...

  18. Pure Sensory Stroke due to Lenticulocapsular Hemorrhage

    Institute of Scientific and Technical Information of China (English)

    杨益阶; 王国瑾; 潘松青

    2003-01-01

    @@ Pure sensory stroke (PSS) caused by lenticulo-capsular hemorrhage is rare. In this article, we re-ported 4 patients with PSS due to lenticulocapsularhemorrhage, including 3 men and 1 woman (mean age,58 years; range, 54 to 65 years), whose lesions couldbe identified by head computed tomographic (CT)scan and clinical findings correlated with the radio-logical lesions. All patients except 1 had hyperten-sion.

  19. Acute chylous peritonitis due to acute pancreatitis

    OpenAIRE

    2012-01-01

    We report a case of acute chylous ascites formation presenting as peritonitis (acute chylous peritonitis) in a patient suffering from acute pancreatitis due to hypertriglyceridemia and alcohol abuse. The development of chylous ascites is usually a chronic process mostly involving malignancy, trauma or surgery, and symptoms arise as a result of progressive abdominal distention. However, when accumulation of “chyle” occurs rapidly, the patient may present with signs of peritonitis. Preoperative...

  20. Mesenteric tumor due to chronic anisakiasis

    Directory of Open Access Journals (Sweden)

    Pablo Menéndez

    2015-09-01

    Full Text Available Intestinal anisakiasis is a rare parasitic disease and difficult to diagnose due to symptoms are not specific, so it is considered an underdiagnosed disease. The clinical suspicion with a correct diagnosis of anisakiasis allows the establishment of a correct treatment; in most cases, the resolution is possible with conservative treatment, avoiding unnecessary surgery to the preoperative differential diagnosis of acute abdomen. We report the case of a patient who required urgent surgery secondary to an exacerbation of chronic anisakiasis.

  1. Acute chylous peritonitis due to acute pancreatitis.

    Science.gov (United States)

    Georgiou, Georgios K; Harissis, Haralampos; Mitsis, Michalis; Batsis, Haralampos; Fatouros, Michalis

    2012-04-28

    We report a case of acute chylous ascites formation presenting as peritonitis (acute chylous peritonitis) in a patient suffering from acute pancreatitis due to hypertriglyceridemia and alcohol abuse. The development of chylous ascites is usually a chronic process mostly involving malignancy, trauma or surgery, and symptoms arise as a result of progressive abdominal distention. However, when accumulation of "chyle" occurs rapidly, the patient may present with signs of peritonitis. Preoperative diagnosis is difficult since the clinical picture usually suggests hollow organ perforation, appendicitis or visceral ischemia. Less than 100 cases of acute chylous peritonitis have been reported. Pancreatitis is a rare cause of chyloperitoneum and in almost all of the cases chylous ascites is discovered some days (or even weeks) after the onset of symptoms of pancreatitis. This is the second case in the literature where the patient presented with acute chylous peritonitis due to acute pancreatitis, and the presence of chyle within the abdominal cavity was discovered simultaneously with the establishment of the diagnosis of pancreatitis. The patient underwent an exploratory laparotomy for suspected perforated duodenal ulcer, since, due to hypertriglyceridemia, serum amylase values appeared within the normal range. Moreover, abdominal computed tomography imaging was not diagnostic for pancreatitis. Following abdominal lavage and drainage, the patient was successfully treated with total parenteral nutrition and octreotide. PMID:22563182

  2. Acute chylous peritonitis due to acute pancreatitis

    Institute of Scientific and Technical Information of China (English)

    Georgios K Georgiou; Haralampos Harissis; Michalis Mitsis; Haralampos Batsis; Michalis Fatouros

    2012-01-01

    We report a case of acute chylous ascites formation presenting as peritonitis (acute chylous peritonitis) in a patient suffering from acute pancreatitis due to hypertriglyceridemia and alcohol abuse.The development of chylous ascites is usually a chronic process mostly involving malignancy,trauma or surgery,and symptoms arise as a result of progressive abdominal distention.However,when accumulation of "chyle" occurs rapidly,the patient may present with signs of peritonitis.Preoperative diagnosis is difficult since the clinical picture usually suggests hollow organ perforation,appendicitis or visceral ischemia.Less than 100 cases of acute chylous peritonitis have been reported.Pancreatitis is a rare cause of chyloperitoneum and in almost all of the cases chylous ascites is discovered some days (or even weeks) after the onset of symptoms of pancreatitis.This is the second case in the literature where the patient presented with acute chylous peritonitis due to acute pancreatitis,and the presence of chyle within the abdominal cavity was discovered simultaneously with the establishment of the diagnosis of pancreatitis.The patient underwent an exploratory laparotomy for suspected perforated duodenal ulcer,since,due to hypertriglyceridemia,serum amylase values appeared within the normal range.Moreover,abdominal computed tomography imaging was not diagnostic for pancreatitis.Following abdominal lavage and drainage,the patient was successfully treated with total parenteral nutrition and octreotide.

  3. Recurrent stupor due to lysinuric protein intolerance

    Directory of Open Access Journals (Sweden)

    Ahsan Moosa N

    2005-01-01

    Full Text Available Recurrent stupor in children is an uncommon clinical problem with a wide differential diagnosis; inherited metabolic disorders account for a vast majority. We report a 9-year-old girl with recurrent episodes of stupor. Initial episode was treated as viral encephalitis and the second episode was managed as non-convulsive status epilepticus. Hyperammonemia was detected in the last episode. Metabolic work-up after dietary protein challenge revealed classical biochemical features of lysinuric protein intolerance. She was managed with protein-restricted diet, which resulted in marked neurological improvement. LPI is a rare inherited metabolic disorder due to membrane transport defect of cationic amino acids.

  4. Rhabdomyolysis due to Multiple Wasp Stings

    Directory of Open Access Journals (Sweden)

    K. Ito

    2012-01-01

    Full Text Available Wasp sting is a relatively common arthropod assault, but is sometimes fatal because of anaphylaxis. Rhabdomyolysis is a serious condition, with destruction of striated muscles, and can be induced by various causes such as drugs, heart attacks, CRASH syndrome, and viper bites. Mass envenomation by multiple wasp stings can also cause rhabdomyolysis followed by acute renal failure, although it is extremely rare. We herein report a case who had an anaphylaxis-like reaction and rhabdomyolysis due to multiple wasp stings.

  5. Treatment of oral mucositis due to chemotherapy

    OpenAIRE

    Chaveli-López, Begonya; Bagán-Sebastián, José V.

    2016-01-01

    Introduction The management of oral mucositis is a challenge, due to its complex biological nature. Over the last 10 years, different strategies have been developed for the management of oral mucositis caused by chemotherapy in cancer patients. Material and Methods An exhaustive search was made of the PubMed-Medline, Cochrane Library and Scopus databases, crossing the key words “oral mucositis”, “prevention” and “treatment” with the terms “chemotherapy” and “radiotherapy” by means of the bool...

  6. ON DAMPING COEFFICIENT DUE TO PHASE TRANSFORMATION

    Institute of Scientific and Technical Information of China (English)

    Din-Yu HSIEH

    2003-01-01

    The damping coefficient of capillary waves due to the evaporation-condensation process at the interface of the two phases of a fluid is evaluated.To highlight the mechanism of the effect of heat and mass transfer across the interface between regions of liquid and vapor,potential flow of incompressible fluids are assumed.Thus other mechanisms of damping are neglected.To fascilitate the analysis,the method of multiple-scale is employed in the analysis,even though the problem is linear.

  7. Adult Intussusception Due to a Colonic Lipoma

    Directory of Open Access Journals (Sweden)

    AR Poormazar

    2007-07-01

    Full Text Available Colonic lipoma is a benign neoplasm that can lead to colonic obstruction but concomitant intussusception is rare in adults. In this case, colocolic intussusception due to a lipoma in the descending colon had occurred. By laparatomy, we diagnosed the problem , but reduction was impossible . So resection of the colon with mass was done and anastomosed. After surgery and 3 years follow up the patient was without any complications. We present this case, and briefly review literature of colonic intussusception in adults.

  8. Orbital effects due to gravitational induction

    Science.gov (United States)

    Bini, Donato; Iorio, Lorenzo; Giordano, Domenico

    2015-11-01

    We study the motion of test particles in the metric of a localized and slowly rotating astronomical source, within the framework of linear gravitoelectromagnetism, grounded on a Post-Minkowskian approximation of general relativity. Special attention is paid to gravitational inductive effects due to time-varying gravitomagnetic fields. We show that, within the limits of the approximation mentioned above, there are cumulative effects on the orbit of the particles either for planetary sources or for binary systems. They turn out to be negligible.

  9. Orbital effects due to gravitational induction

    CERN Document Server

    Bini, Donato; Giordano, Domenico

    2015-01-01

    We study the motion of test particles in the metric of a localized and slowly rotating astronomical source, within the framework of linear gravitoelectromagnetism, grounded on a Post-Minkowskian approximation of general relativity. Special attention is paid to gravitational inductive effects due to time-varying gravitomagnetic fields. We show that, within the limits of the approximation mentioned above, there are cumulative effects on the orbit of the particles either for planetary sources or for binary systems. They turn out to be negligible.

  10. Treatment of oral mucositis due to chemotherapy

    Science.gov (United States)

    Bagán-Sebastián, José V

    2016-01-01

    Introduction The management of oral mucositis is a challenge, due to its complex biological nature. Over the last 10 years, different strategies have been developed for the management of oral mucositis caused by chemotherapy in cancer patients. Material and Methods An exhaustive search was made of the PubMed-Medline, Cochrane Library and Scopus databases, crossing the key words “oral mucositis”, “prevention” and “treatment” with the terms “chemotherapy” and “radiotherapy” by means of the boolean operators “AND” and “NOT”. A total of 268 articles were obtained, of which 96 met the inclusion criteria. Results Several interventions for the prevention of oral mucositis, such as oral hygiene protocols, amifostine, benzidamine, calcium phosphate, cryotherapy and iseganan, among others, were found to yield only limited benefits. Other studies have reported a decrease in the appearance and severity of mucositis with the use of cytoprotectors (sucralfate, oral glutamine, hyaluronic acid), growth factors, topical polyvinylpyrrolidone, and low power laser irradiation. Conclusions Very few interventions of confirmed efficacy are available for the management of oral mucositis due to chemotherapy. However, according to the reviewed literature, the use of palifermin, cryotherapy and low power laser offers benefits, reducing the incidence and severity of oral mucositis – though further studies are needed to confirm the results obtained. Key words:Chemotherapy-Induced Oral Mucositis Treatment. PMID:27034762

  11. Operating limitations due to low gas temperature

    Energy Technology Data Exchange (ETDEWEB)

    Bruschi, R.; Ghiselli, W.; Spinazze, M.

    1995-12-31

    A number of projects concerning continental links for the transport of treated natural gas over long distance, both on and offshore, have been implemented during the last few years or are currently being implemented. The long trunklines in North America and subsea trunklines planned or already in operation in the North Sea, are outstanding examples of such long distance transmission of gas in large diameter pipelines operated at high pressure. The development of such network has paid special attention to the effects that low temperature resulting from the transportation process may imply in terms of pipe structural integrity and environmental impact. Scope of this paper is to discuss operating limitations due to low gas temperature. New project scenarios are presented in a brief introduction. The fluido-thermo-dynamic background for the development of low temperatures are outlined. Finally some topics relevant to structural integrity are discussed in particular such as the pipe steel behaviour at low temperature, the prediction techniques of the ice bulb growth around the pipe, the interactions of the cold line with the soil and the consequences due to the differential compliancy of the pipeline towards points of fixity (in-line valves/tees or fixed plants). 30 refs., 22 figs., 1 tab.

  12. Induced radioactivity due to high energy radiation

    International Nuclear Information System (INIS)

    In high energy radiation facilities, the reaction called ''Spallation'' (nuclear spallation) becomes to contribute greatly to the production of induced radioactivity in the facility structures, water and air, besides thermal neutron capture reaction and the reaction accompanied by nucleon release due to fast neutrons. Spallation products have three features. The first is the abundance of the kinds of nuclides produced, the second is that the major part of the products are positron emitters, and the third is that the most products have short life. If the estimation of the radioactivity intensity and amount of spallation products is intended from the viewpoint of radiation protection, experimental values or the semi-empirical equation determined on the basis of experimental values should be used. Rudstam formula is well-known as such a semi-empirical equation. Though it is important for health physics to estimate the induced activity production due to high energy radiation quantitatively and as accurately as possible, the quantitative estimation is practically quite difficult. The problems in radiation control caused by induced activity include the spatial dose rate in operation and during shut down, the radioactive contamination of workers and the treatment and disposal of activated water and air. It is necessary in the actual radiation control duties to develop the monitoring techniques or radioactivity concentration, because the routine monitoring techniques seem to have not yet been established, and the calibration and assessment procedures seem to leave room for the improvement. (Wakatsuki, Y.)

  13. Material deterioration due to neutron irradiation

    International Nuclear Information System (INIS)

    IAEA CRP 3 was a major effort to develop and validate surveillance methodologies for irradiation embrittlement characterisation and it is hardly any more possible to carry out similar co-operative programmes due to resource limitations. The programme included material characterisation by tensile, Charpy-V and fracture toughness tests. The programme promoted considerably the acceptance of direct fracture toughness characterisation of the irradiated material condition. Specimen preparation by reconstitution technique is becoming a common expertise in many laboratories. The VTT practice has been widely validated in the current programme. However, no international or co-operative validation programmes have not yet been performed with irradiated material, where the technique has its unique value but where possibility of incorrect application is also evident. (orig.)

  14. Global aphasia due to left thalamic hemorrhage

    Directory of Open Access Journals (Sweden)

    Ozeren Ali

    2006-01-01

    Full Text Available Global aphasia is an acquired language disorder characterized by severe impairments in all modalities of language. The specific sites of injury commonly include Wernike′s and Broca′s areas and result from large strokes - particularly those involving the internal carotid or middle cerebral arteries. Rarely, deep subcortical lesions may cause global aphasia. We present three cases with global aphasia due to a more rare cause: left thalamic hemorrhage. Their common feature was the large size of the hemorrhage and its extension to the third ventricule. HMPAO-SPECT in one of the cases revealed ipsilateral subcortical, frontotemporal cortical and right frontal cortical hypoperfusion. Left thalamic hemorrhage should be considered in the differential diagnosis of global aphasia.

  15. Postpartum Vaginal Stenosis Due to Chemical Vaginitis.

    Science.gov (United States)

    Kaur, Gurcharan; Sinha, Maruti; Gupta, Ridhima

    2016-05-01

    Acquired vaginal stenosis is a rare obstructing anomaly, which can be caused by use of chemicals in the vagina. A 21-year-old gravida 1 para 1, presented with secondary amenorrhea and inability to have sexual intercourse, after normal spontaneous vaginal delivery complicated by post partum bleeding. The delivery was conducted by untrained traditional birth attendant at home. The wash cloth soaked with caustic soda was packed in the patient's vagina and was left in situ for 10 days, which ultimately led to the severe scarring and stenosis of the vagina. Patient underwent surgical management and the extensive vaginal adhesions were excised and a patent vagina was reconstructed. Patient then reported successful vaginal intercourse without dyspareunia. Post partum vaginal stenosis due to chemical vaginitis is rare. These cases can be prevented by adequate training of untrained health care workers. PMID:27437311

  16. Decoherence due to elastic Rayleigh scattering

    CERN Document Server

    Uys, H; VanDevender, A P; Ospelkaus, C; Meiser, D; Ozeri, R; Bollinger, J J

    2010-01-01

    We present theoretical and experimental studies of the decoherence of hyperfine ground-state superpositions due to elastic Rayleigh scattering of light off-resonant with higher lying excited states. We demonstrate that under appropriate conditions, elastic Rayleigh scattering can be the dominant source of decoherence, contrary to previous discussions in the literature. We show that the elastic-scattering decoherence rate of a two-level system is given by the square of the difference between the elastic-scattering \\textit{amplitudes} for the two levels, and that for certain detunings of the light, the amplitudes can interfere constructively even when the elastic scattering \\textit{rates} from the two levels are equal. We confirm this prediction through calculations and measurements of the total decoherence rate for a superposition of the valence electron spin levels in the ground state of $^9$Be$^+$ in a 4.5 T magnetic field.

  17. Decoherence due to Elastic Rayleigh Scattering

    Science.gov (United States)

    Uys, H.; Biercuk, M. J.; Vandevender, A. P.; Ospelkaus, C.; Meiser, D.; Ozeri, R.; Bollinger, J. J.

    2010-11-01

    We present theoretical and experimental studies of the decoherence of hyperfine ground-state superpositions due to elastic Rayleigh scattering of light off resonant with higher lying excited states. We demonstrate that under appropriate conditions, elastic Rayleigh scattering can be the dominant source of decoherence, contrary to previous discussions in the literature. We show that the elastic-scattering decoherence rate of a two-level system is given by the square of the difference between the elastic-scattering amplitudes for the two levels, and that for certain detunings of the light, the amplitudes can interfere constructively even when the elastic-scattering rates from the two levels are equal. We confirm this prediction through calculations and measurements of the total decoherence rate for a superposition of the valence electron spin levels in the ground state of Be+9 in a 4.5 T magnetic field.

  18. Food chain chaos due to transcritical point

    Science.gov (United States)

    Deng, Bo; Hines, Gwendolen

    2003-06-01

    Chaotic dynamics of a classical prey-predator-superpredator ecological model are considered. Although much is known about the behavior of the model numerically, very few results have been proven analytically. A new analytical result is obtained. It is demonstrated that there exists a subset on which a singular Poincaré map generated by the model is conjugate to the shift map on two symbols. The existence of such a Poincaré map is due to two conditions: the assumption that each species has its own time scale ranging from fast for the prey to slow for the superpredator, and the existence of transcritical points, leading to the classical mathematical phenomenon of Pontryagin's delay of loss of stability. This chaos generating mechanism is new, neither suspected in abstract form nor recognized in numerical experiments in the literature.

  19. Changes in vergence dynamics due to repetition.

    Science.gov (United States)

    Jainta, Stephanie; Bucci, Maria Pia; Wiener-Vacher, Sylvette; Kapoula, Zoï

    2011-08-15

    Vergence insufficiency is frequent in many populations including children with vertigo in the absence of measurable vestibular dysfunction. Orthoptic exercises are typically used to improve vergence and the clinical practice suggests that simple repetition of vergence movements improves it. Objective eye movement recordings were used to asses the dynamics and spatial-temporal properties of convergence (8.7°) and divergence (2.7°) along the midline while these movements were repeated 80 times. Eight children, aged on average 13years and showing vertigo symptoms accompanied with vergence insufficiency, participated. For both, convergence and divergence the velocity increased and the overall duration decreased; the amplitude of the mean transient component of the response changed significantly. These findings are compatible with models of double mode control of vergence eye movements (transient - open-loop vs. sustained - closed loop). Due to simple repetitions a real improvement in the dynamics of vergence along the midline occurred. PMID:21745493

  20. Degradation of insulating ceramics due to irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Kobayashi, Tomohiro; Terai, Takayuki; Yoneoka, Toshiaki; Tanaka, Satoru [Tokyo Univ. (Japan). Faculty of Engineering

    1996-10-01

    Radiation-induced electrical degradation was investigated on single crystal alumina under 2.2 MeV electron irradiation with a dose rate of 5.7 x 10{sup 5} Gy/s and an electrical field of 1.6 x 10{sup 5} V/m at 773 K. After irradiation, electrical resistivity both on the surface and in the bulk decreased in the temperature range of 300 to 773 K. Substantial resistivity decreased from the initial value due to the irradiation, the degradation ratio was much smaller than the case of poly-crystalline specimens. On the other hands, surface resistivity decreased with increasing temperature for measurement with an abrupt change by 4 orders of magnitude around 600 K, and it showed thermal hysteresis. (author)

  1. Seismoelectric effects due to mesoscopic heterogeneities

    CERN Document Server

    Jougnot, D; Carbajal, M Rosas; Linde, N; Holliger, K

    2014-01-01

    While the seismic effects of wave-induced fluid flow due to mesoscopic heterogeneities have been studied for several decades, the role played by these types of heterogeneities on seismoelectric phenomena is largely unexplored. To address this issue, we have developed a novel methodological framework which allows for the coupling of wave-induced fluid flow, as inferred through numerical oscillatory compressibility tests, with the pertinent seismoelectric conversion mechanisms. Simulating the corresponding response of a water-saturated sandstone sample containing mesoscopic fractures, we demonstrate for the first time that these kinds of heterogeneities can produce measurable seismoelectric signals under typical laboratory conditions. Given that this phenomenon is sensitive to key hydraulic and mechanical properties, we expect that the results of this pilot study will stimulate further exploration on this topic in several domains of the Earth, environmental, and engineering sciences.

  2. Acute renal failure due to rhabdomyolyisis

    Directory of Open Access Journals (Sweden)

    Nieto-Ríos, John Fredy

    2016-04-01

    Full Text Available Acute renal failure is a frequent cause of morbidity and mortality in emergency, hospitalization and critical care services. In 15 % of cases it is due to rhabdomyolysis, in which there is breakdown of skeletal muscle with massive necrosis and leakage of muscle cell contents into the circulation. It has many different etiologies. The rhabdomyolysis-induced acute kidney injury results from the combination of several mechanisms, including tubular obstruction, vasoconstriction and oxidative stress. The most important therapeutic measures are: Aggressive repletion of fluids, forced diuresis and avoidance of exposure to nephrotoxic substances. In cases of severe uremia, metabolic acidosis, hiperkalemia or fluid overload it is necessary to start renal replacement therapy. As a rule, kidney function is completely recovered, but these patients have higher risk of future chronic kidney disease.

  3. Fixed drug eruption due to paracetamol

    Directory of Open Access Journals (Sweden)

    Anjali Kushwah

    2013-12-01

    Full Text Available Fixed drug eruption is a common type of drug eruption seen in dermatology OPD’s. Usually it is seen with sulphonamides, salicylates, tetracyclines, oxyphenbutazones, dapsone, barbiturates, phenolphthalein, morphine, codeine, quinine, phenacetin, erythromycin, griseofulvin, mebendazole etc. We hereby report a case of fixed drug eruption due to single dose of oral paracetamol in an otherwise healthy male after one hour of consuming it. A provisional diagnosis of Paracetamol induced fixed drug eruption was made. Paracetamol was stopped and patient advised never to take Paracetamol in future. Patient was managed with prednisolone 10mg /day, cetirizine 10 mg/day, and amoxicillin 500 mg twice a day and mometasone + fusidic acid cream to be applied over the lesions. [Int J Basic Clin Pharmacol 2013; 2(6.000: 833-835

  4. Severe Methemoglobinemia due to Sodium Nitrite Poisoning.

    Science.gov (United States)

    Katabami, Kenichi; Hayakawa, Mineji; Gando, Satoshi

    2016-01-01

    Case. We report a case of severe methemoglobinemia due to sodium nitrite poisoning. A 28-year-old man was brought to our emergency department because of transient loss of consciousness and cyanosis. He was immediately intubated and ventilated with 100% oxygen. A blood test revealed a methemoglobin level of 92.5%. Outcome. We treated the patient with gastric lavage, activated charcoal, and methylene blue (2 mg/kg) administered intravenously. Soon after receiving methylene blue, his cyanosis resolved and the methemoglobin level began to decrease. After relocation to the intensive care unit, his consciousness improved and he could recall ingesting approximately 15 g sodium nitrite about 1 hour before he was brought to our hospital. The patient was discharged on day 7 without neurologic impairment. Conclusion. Severe methemoglobinemia may be fatal. Therefore, accurate diagnosis of methemoglobinemia is very important so that treatment can be started as soon as possible. PMID:27563472

  5. Universal decoherence due to gravitational time dilation

    Science.gov (United States)

    Pikovski, Igor; Zych, Magdalena; Costa, Fabio; Brukner, Caslav

    2016-05-01

    The absence of quantum behavior on macroscopic scales is usually attributed to decoherence -- the suppression of quantum superpositions due to interaction with an environment. Here we show that time dilation provides a universal decoherence mechanism for any complex system. The effect takes place even for isolated particles that do not interact with any external environment and causes decoherence of position and momentum of the center of mass of the system. While time dilation is very weak on earth, it is already sufficient to decohere gram-scale objects and complex molecules. The results show that novel phenomena arise at the interplay between quantum theory and general relativity even in the low energy limit. Possible experimental verifications of the effect are briefly discussed.

  6. Acute Paraplegia due to Thoracic Hematomyelia

    Science.gov (United States)

    Celik, Bahattin; Canbek, Ihsan; Karavelioğlu, Ergun

    2016-01-01

    Spontaneous intraspinal intramedullary hemorrhage is a rare entity with the acute onset of neurologic symptoms. The etiology of idiopathic spontaneous hematomyelia (ISH) is unknown, and there are few published case reports. Hematomyelia is mostly associated with trauma, but the other nontraumatic etiologies are vascular malformations, tumors, bleeding disorders, syphilis, syrinx, and myelitis. MRI is a good choice for early diagnosis. Hematomyelia usually causes acute spinal cord syndrome due to the compression and destruction of the spinal cord. A high-dose steroid treatment and surgical decompression and evacuation of hematoma are the urgent solution methods. We present idiopathic spontaneous hematomyelia of a previously healthy 80-year-old male with a sudden onset of back pain and paraplegia.

  7. Dysphagia due to Diffuse Idiopathic Skeletal Hyperostosis

    Directory of Open Access Journals (Sweden)

    Masafumi Ohki

    2012-01-01

    Full Text Available Diffuse idiopathic skeletal hyperostosis (DISH is usually asymptomatic. However, rarely, it causes dysphagia, hoarseness, dyspnea, snoring, stridor, and laryngeal edema. Herein, we present a patient with DISH causing dysphagia. A 70-year-old man presented with a 4-month history of sore throat, dysphagia, and foreign body sensation. Flexible laryngoscopy revealed a leftward-protruding posterior wall in the hypopharynx. Computed tomography and magnetic resonance imaging revealed a bony mass pushing, anteriorly, on the posterior hypopharyngeal wall. Ossification included an osseous bridge involving 5 contiguous vertebral bodies. Dysphagia due to DISH was diagnosed. His symptoms were relieved by conservative therapy using anti-inflammatory drugs. However, if conservative therapy fails and symptoms are severe, surgical treatments must be considered.

  8. Amplitude growth due to random, correlated kicks

    International Nuclear Information System (INIS)

    Historically, stochastic processes, such as gas scattering or stochastic cooling, have been treated by the Fokker-Planck equation. In this approach, usually considered for one dimension only, the equation can be considered as a continuity equation for a variable which would be a constant of the motion in the absence of the stochastic process, for example, the action variable, I = ε/2π for betatron oscillations, where ε is the area of the Courant-Snyder ellipse, or energy in the case of unbunched beams, or the action variable for phase oscillations in case the beam is bunched. A flux, /Phi/, including diffusive terms can be defined, usually to second order. /Phi/ = M1F(I) + M2∂F/∂I + /hor ellipsis/. M1 and M2 are the expectation values of δI and (δI)2 due to the individual stochastic kicks over some period of time, long enough that the variance of these quantities is sufficiently small. Then the Fokker-Planck equation is just ∂F/∂I + ∂/Phi//∂I = 0. In many cases those where the beam distribution has already achieved its final shape, it is sufficient to find the rate of increase of by taking simple averages over the Fokker-Planck equation. At the time this work was begun, there was good knowledge of the second moment for general stochastic processes due to stochastic cooling theory, but the form of the first moment was known only for extremely wideband processes. The purposes of this note are to derive an expression relating the expected single particle amplitude growth to the noise autocorrelation function and to obtain, thereby, the form of M1 for narrow band processes. 4 refs

  9. Sepsis due to clostridium septicum: case report

    International Nuclear Information System (INIS)

    Clostridium septicum is an unusual anaerobic, gram-positive, gas-producing bacillus, which has been identified as a cause of fulminant rapidly fatal infection in humans. Infection with C. septicum usually occurs in patients with cancer, patients receiving immunosuppressive chemotherapy, or patients with a nonmalignant hematological disorder such as hemolytic uremic syndrome. C. septicum infection most commonly involves the abdomen, and a recent review article has identified 164 cases in the medical literature describing the abdominal findings in this disease. Intracranial manifestation of C. septicum infection are less common and include meningitis, cerebritis, abscess formation and pneumocephalus. There have been only 12 documented cases in the English literature describing central nervous system lesions associated with C. septicum. We present a case report of a 56-year-old man in whom septicemia due to C. septicum developed as a complication of Crohn's disease. To our knowledge, there has never been a previous report of C. septicum sepsis related to underlying Crohn's disease. Our case is also remarkable in that an intracerebral gas collection developed at the site of a mycotic infarct related to C. septicum bacteremia, Intracranial, intraparenchymal gas formation related to anaerobic infection is extremely rare; to our knowledge, this radiological finding related to C. septicum sepsis has been described in only 1 previous case report in the medical literature. We also describe the intra-abdominal manifestations of C. septicum sepsis that occurred in this patient as well as the associated radiographic and pathologic findings. (author)

  10. Onshore seismic amplifications due to bathymetric features

    Science.gov (United States)

    Rodríguez-Castellanos, A.; Carbajal-Romero, M.; Flores-Guzmán, N.; Olivera-Villaseñor, E.; Kryvko, A.

    2016-08-01

    We perform numerical calculations for onshore seismic amplifications, taking into consideration the effect of bathymetric features on the propagation of seismic movements. To this end, the boundary element method is applied. Boundary elements are employed to irradiate waves and, consequently, force densities can be obtained for each boundary element. From this assumption, Huygens’ principle is applied, and since the diffracted waves are built at the boundary from which they are radiated, this idea is equivalent to Somigliana’s representation theorem. The application of boundary conditions leads to a linear system being obtained (Fredholm integral equations). Several numerical models are analyzed, with the first one being used to verify the proposed formulation, and the others being used to estimate onshore seismic amplifications due to the presence of bathymetric features. The results obtained show that compressional waves (P-waves) generate onshore seismic amplifications that can vary from 1.2 to 5.2 times the amplitude of the incident wave. On the other hand, the shear waves (S-waves) can cause seismic amplifications of up to 4.0 times the incident wave. Furthermore, an important result is that in most cases the highest seismic amplifications from an offshore earthquake are located on the shoreline and not offshore, despite the seafloor configuration. Moreover, the influence of the incident angle of seismic waves on the seismic amplifications is highlighted.

  11. Homocystinuria due to cystathionine beta synthase deficiency

    Directory of Open Access Journals (Sweden)

    Rao T

    2008-01-01

    Full Text Available A two year-old male child presented with cutis marmorata congenita universalis, brittle hair, mild mental retardation, and finger spasms. Biochemical findings include increased levels of homocysteine in the blood-106.62 µmol/L (normal levels: 5.90-16µmol/L. Biochemical tests such as the silver nitroprusside and nitroprusside tests were positive suggesting homocystinuria. The patient was treated with oral pyridoxine therapy for three months. The child responded well to this therapy and the muscle spasms as well as skin manifestations such as cutis marmorata subsided. The treatment is being continued; the case is reported here because of its rarity. Homocysteinuria arising due to cystathionine beta-synthase (CBS deficiency is an autosomal recessive disorder of methionine metabolism that produces increased levels of urinary homocysteine and methionine It manifests itself in vascular, central nervous system, cutaneous, and connective tissue disturbances and phenotypically resembles Marfan′s syndrome. Skin manifestations include malar flush, thin hair, and cutis reticulata / marmorata.

  12. Crater Formation Due to Lunar Plume Impingement

    Science.gov (United States)

    Marsell, Brandon

    2011-01-01

    Thruster plume impingement on a surface comprised of small, loose particles may cause blast ejecta to be spread over a large area and possibly cause damage to the vehicle. For this reason it is important to study the effects of plume impingement and crater formation on surfaces like those found on the moon. Lunar soil, also known as regolith, is made up of fine granular particles on the order of 100 microns.i Whenever a vehicle lifts-off from such a surface, the exhaust plume from the main engine will cause the formation of a crater. This crater formation may cause laterally ejected mass to be deflected and possibly damage the vehicle. This study is a first attempt at analyzing the dynamics of crater formation due to thruster exhaust plume impingement during liftoff from the moon. Though soil erosion on the lunar surface is not considered, this study aims at examining the evolution of the shear stress along the lunar surface as the engine fires. The location of the regions of high shear stress will determine where the crater begins to form and will lend insight into how big the crater will be. This information will help determine the probability that something will strike the vehicle. The final sections of this report discuss a novel method for studying this problem that uses a volume of fluid (VOF)ii method to track the movement of both the exhaust plume and the eroding surface.

  13. Endothelial damage due to air pollution

    Directory of Open Access Journals (Sweden)

    Livio Dei Cas

    2010-05-01

    Full Text Available The first human deaths due to air pollution were recorded in the mid-20th century. There were 6,000 cases of illness recorded in Donora, Pennsylvania, in 1948 and 20,000 in London in 1952; 15 and 4,000 cases of death, respectively, were allegedly ascribed to air pollution. Since then, many countries have adopted standards of air quality in order to protect environmental and human health, although the quality of the air in some industrialized countries remains worrying. Emerging countries in the Far East and South America are also cause for concern because of the growth in the population, industrialization and transport. The WHO World Health Report 2002 estimated that air pollutants, particularly PM10, are associated with a mortality rate of 5% for cancer of the respiratory system, 2% for cardiovascular diseases and about 1% for respiratory tract infections. These estimates consider the mortality but not the morbidity rate, which would increase proportionally the number of cases of these pathologies, despite the difficulty in evaluation.

  14. Alpha particles diffusion due to charge changes

    Energy Technology Data Exchange (ETDEWEB)

    Clauser, C. F., E-mail: cesar.clauser@ib.edu.ar; Farengo, R. [Centro Atómico Bariloche and Instituto Balseiro, Comisión Nacional de Energía Atómica and Universidad Nacional de Cuyo, Av. Bustillo 9500, 8400 Bariloche (Argentina)

    2015-12-15

    Alpha particles diffusion due to charge changes in a magnetized plasma is studied. Analytical calculations and numerical simulations are employed to show that this process can be very important in the pedestal-edge-SOL regions. This is the first study that presents clear evidence of the importance of atomic processes on the diffusion of alpha particles. A simple 1D model that includes inelastic collisions with plasma species, “cold” neutrals, and partially ionized species was employed. The code, which follows the exact particle orbits and includes the effect of inelastic collisions via a Monte Carlo type random process, runs on a graphic processor unit (GPU). The analytical and numerical results show excellent agreement when a uniform background (plasma and cold species) is assumed. The simulations also show that the gradients in the density of the plasma and cold species, which are large and opposite in the edge region, produce an inward flux of alpha particles. Calculations of the alpha particles flux reaching the walls or divertor plates should include these processes.

  15. Acute hepatitis due to brucellosis: case report

    Directory of Open Access Journals (Sweden)

    Nevil AYKIN

    2009-06-01

    Full Text Available Brucella infection is a systemic disease. It rarely causes local infections like hepatitis in gastrointestinal system. In this article we would like to present an acute hepatitis case related to brucella infection that followed up in our clinic. A male, 30 year-old patient hospitalized due to common muscle pain, high fever and vomiting. During the physical examination the patient’s skin, scleras and mucosal membranes were icteric, the liver was 2-3 cm palpable and tender. Laboratory findings were as follows: AST:1190 U/L; ALT:715 U/L; GGT:961 U/L; ALP:369 U/L; total bilirubin:4.6 mg/dL; direct bilirubin:2.1 mg/dL. Viral markers were found to be negative. We started treatment with streptomicine and doxicycline since, the patient’s standard brucella tube agglutination test was positive (1/60 and brucella spp produced in his blood culture. From the second day of the treatment, we started to get clinical response. On the 17th day of the treatment, he discharged from the hospital because ALT, AST and bilirubine level were found normal and his treatment was completed to the 8 weeks. Brucella is continuing to be an important health problem especially who live in surrounding countryside and have to keep in mind in the differential diagnosis of the acute hepatitis.

  16. Catatonia due to systemic lupus erythematosus

    Directory of Open Access Journals (Sweden)

    Francisco de Assis Pinto Cabral Júnior Rabello

    2014-07-01

    Full Text Available Objectives Discuss neuropsychiatric aspects and differential diagnosis of catatonic syndrome secondary to systemic lupus erythematosus (SLE in a pediatric patient. Methods Single case report. Result A 13-year-old male, after two months diagnosed with SLE, started to present psychotic symptoms (behavioral changes, hallucinations and delusions that evolved into intense catatonia. During hospitalization, neuroimaging, biochemical and serological tests for differential diagnosis with metabolic encephalopathy, neurological tumors and neuroinfections, among other tests, were performed. The possibility of neuroleptic malignant syndrome, steroid-induced psychosis and catatonia was also evaluated. A complete reversal of catatonia was achieved after using benzodiazepines in high doses, associated with immunosuppressive therapy for lupus, which speaks in favor of catatonia secondary to autoimmune encephalitis due to lupus. Conclusion Although catatonia rarely is the initial clinical presentation of SLE, the delay in recognizing the syndrome can be risky, having a negative impact on prognosis. Benzodiazepines have an important role in the catatonia resolution, especially when associated with parallel specific organic base cause treatment. The use of neuroleptics should be avoided for the duration of the catatonic syndrome as it may cause clinical deterioration.

  17. Sleep disturbance due to aircraft noise exposure

    Directory of Open Access Journals (Sweden)

    Lawrence S Finegold

    2010-01-01

    Full Text Available Research on nighttime sleep disturbance due to community noise sources, particularly from exposure to aircraft noise, has been conducted for over a half decade. However, there are still no national environmental noise policies (i.e., laws and regulations promulgated which prescribe a specific criterion for an exposure limit which is regulatory in nature. In the U.S., the new American National Standards Institute (ANSI Noise Standard, ANSI S12.9-2008/Part 6, Quantities and Procedures for Description and Measurement of Environmental Sound - Part 6: Methods for Estimation of Awakenings Associated with Outdoor Noise Events Heard in Homes, does provide the currently recommended exposure-response relationship used in the U.S. In Europe, there has also been significant laboratory and field research on sleep disturbance, although the U.S. and European research publications often use different research methodologies, different noise metrics and different meta-analysis techniques. The current article will provide a brief overview of sleep disturbance research internationally to document the similarities and differences between the various research approaches and research results.

  18. Radiation risk due to occupational exposure

    International Nuclear Information System (INIS)

    Exposure to ionizing radiation occurs in many occupations. Workers can be exposed to both natural and artificial sources of radiation. Any exposure to ionizing radiation incurs some risk, either to the individual or to the individual's progeny. This dissertation investigated the radiation risk due to occupational exposure in industrial radiography. Analysis of the reported risk estimates to occupational exposure contained in the UNSCEAR report of 2008 in industrial radiography practice was done. The causes of accidents in industrial radiography include: Lack of or inadequate regulatory control, inadequate training, failure to follow operational procedures, human error, equipment malfunction or defect, inadequate maintenance and wilful violation have been identified as primary causes of accidents. To minimise radiation risks in industrial radiography exposure devices and facilities should be designed such that there is intrinsic safety and operational safety ensured by establishing a quality assurance programme, safety culture fostered and maintained among all workers, industrial radiography is performed in compliance with approved local rules, workers engaged have appropriate qualifications and training, available safe operational procedures are followed, a means is provided for detecting incidents and accidents and an analysis of the causes and lessons learned. (author)

  19. Rotor instability due to loose rotating part

    Science.gov (United States)

    Muszynska, A.

    1985-01-01

    Loosening of a rotating part from its fixed position on the shaft or a part of the stator which comes loose and begins to turn with the rotor very frequently represents machinery malfunction. The loose part becomes involved in rotative motion mostly due to dry or fluid friction, and thus its motion is very erratic. The loose part can also move axially along the shaft. Detachment of the rotating part causes changes in the rotor balance state. Most often this results in higher unbalance. During steady-state operation the effect of a loose rotating part can manifest itself through heat vibration. It can be diagnosed by observing periodic changes of amplitude and phase of the synchronous response. During start-up (or shutdown) a loose rotating part carrying some amount of unbalance may manifest its dynamic action in the form of subsynchronous vibrations, very similar to those of other instabilities. The objective of this demonstration is to observe the effect of a loose rotating part (fixed, however, in the axial direction) under both steady-state (rotor constant speed) and transient (rotor start-up or shutdown) operation. The dynamic response depends very much on the amount of damping in the system: lubrication of the loose part/shaft surfaces and addition/elimination of aerodynamic drag blades, mounted on the loose disk, significantly change the rotor response.

  20. Acute generalized exanthematous pustulosis due to tetrazepam.

    Science.gov (United States)

    Thomas, E; Bellón, T; Barranco, P; Padial, A; Tapia, B; Morel, E; Alves-Ferreira, J; Martín-Esteban, M

    2008-01-01

    Tetrazepam is a benzodiazepine that is widely used in Spain as a muscle relaxant, with occasional cutaneous side effects. We report a patient who developed a generalized pruriginous cutaneous reaction compatible with acute generalized exanthematous pustulosis (AGEP) due to tetrazepam. Patch tests with bromazepam, diazepam, and tetrazepam were negative at 48 and 72 hours; however, the tetrazepam patch showed a positive reaction at 10 days. Immunohistochemical studies revealed a mononuclear infiltrate composed of CD4+ and CD8+ T lymphocytes. Analysis of interleukin (IL) 8 expression by quantitative polymerase chain reaction revealed increased IL-8 mRNA levels in patch test-positive skin. Lymphoblast transformation test (LTT) was positive with tetrazepam but not with diazepam. Positive patch test and LTT suggested that tetrazepam-specific lymphocytes might be responsible for a T cell-mediated reaction. These results support previous data suggesting an important role for IL-8 and drug-specific T cells in the pathogenesis ofAGEP and imply that the reaction was specific to tetrazepam with no cross-reactivity to other benzodiazepines. PMID:18447141

  1. Cutaneous reactions due to antihypertensive drugs

    Directory of Open Access Journals (Sweden)

    Upadhayai J

    2006-01-01

    Full Text Available Out of a total of 1147 patients on antihypertensive drugs, 23 (2.04% developed adverse cutaneous drug reactions (ACDR. The commonest antihypertensive drug group causing ACDR was beta-blockers of which atenolol was the commonest culprit. The second most common group was calcium channel blockers with amlodipine as the commonest offender. The most common patterns of ACDR observed included urticaria followed by lichenoid drug eruption (LDE. We noted 2 new patterns of reactions; (i one patient developed brownish blue pigmentation of nails while on atenolol for 3 years, which resolved in 4 months after withdrawal and (ii another patient on amlodipine for 8 years developed Schamberg′s like purpuric pigmentation, which resolved on withdrawal of drug within 3 months. These findings have not been reported in the literature earlier. This study is presented for paucity of Indian data on ACDR due to antihypertensive drugs, and remarkable advancement in area of cardiovascular and antihypertensive pharmacology and a large number of population taking antihypertensive drugs.

  2. Global attention to Turkey due to desertification.

    Science.gov (United States)

    Camci Cetin, S; Karaca, A; Haktanir, K; Yildiz, H

    2007-05-01

    Desertification has recognized as an environmental problem by many international organizations such as UN, NATO and FAO. Desertification in Turkey is generally caused by incorrect land use, excessive grazing, forest fires, urbanization, industry, genetic erosion, soil erosion, salinization, and uncontrolled wild type plants picking. Due to anthropogenic destruction of forest, steppe flora gradually became dominant in Anatolia. In terms of biodiversity, Turkey has a significant importance in Europe and Middle East. Nine thousands plant species naturally grown in Turkey, one third of them are endemic. Also, endemic species of vertebrates, thrive in the lakes and marshy areas. The studies of modelling simulation of vegetation on the effects of Mediterranean climate during the Roman Classical period by using vegetation history showed that, in 2000 years BP, Mediterranean countries were more humid than today. Turkey is a special place on the global concern in terms of desertification because of biodiversity, agricultural potential, high population, social and economical structure, topographical factors and strategic regional location. Communication among scientists, decision makers and international non-profit organizations must be improved. PMID:17057981

  3. Dermatoses due to indian cultural practices

    Directory of Open Access Journals (Sweden)

    Divya Gupta

    2015-01-01

    Full Text Available A wide prevalence of socio-religious and cultural practices in the Asian subcontinent often leads to multitude of skin diseases which may be missed by the dermatologists because of a lack of awareness. ′Henna′ use causes IgE-mediated hypersensitivity reactions and contact dermatitis. ′Kumkum′ application can result in pigmented contact dermatitis and lichen planus pigmentosus. Sticker ′bindis′ and ′alta′ induce contact leukoderma. Irritant and allergic contact dermatitis occurs after playing with ′Holi′ colors. Threading and drawstring dermatitis lead to koebnerization of pre-existing dermatoses, infections and even squamous cell carcinoma of skin. Mild irritant reactions and contact sensitization occur secondary to balm and hair oil use. ′Mudichood′ represents the comedogenic effect of hair oils combined with occlusion and humidity. Aromatherapy oils can cause contact dermatitis and photosensitive reactions. Heavy metal and steroid toxicity along with severe cutaneous adverse effects like erythroderma can occur as a consequent to the use of alternative medicines. Squamous cell carcinoma due to chronic heat exposure from the heating device "kangri" is seen in Kashmiris. Prayer nodules in Muslims and traction alopecia in Sikhs illustrate how religious practices can negatively affect the skin. With increasing globalization and migration, the practice of indigenous customs and traditions is no longer limited to regional territories, making it imperative for the dermatologists to be acquainted with the cutaneous side effects they can cause.

  4. Dermatoses due to Indian cultural practices.

    Science.gov (United States)

    Gupta, Divya; Thappa, Devinder Mohan

    2015-01-01

    A wide prevalence of socio-religious and cultural practices in the Asian subcontinent often leads to multitude of skin diseases which may be missed by the dermatologists because of a lack of awareness. 'Henna' use causes IgE-mediated hypersensitivity reactions and contact dermatitis. 'Kumkum' application can result in pigmented contact dermatitis and lichen planus pigmentosus. Sticker 'bindis' and 'alta' induce contact leukoderma. Irritant and allergic contact dermatitis occurs after playing with 'Holi' colors. Threading and drawstring dermatitis lead to koebnerization of pre-existing dermatoses, infections and even squamous cell carcinoma of skin. Mild irritant reactions and contact sensitization occur secondary to balm and hair oil use. 'Mudichood' represents the comedogenic effect of hair oils combined with occlusion and humidity. Aromatherapy oils can cause contact dermatitis and photosensitive reactions. Heavy metal and steroid toxicity along with severe cutaneous adverse effects like erythroderma can occur as a consequent to the use of alternative medicines. Squamous cell carcinoma due to chronic heat exposure from the heating device "kangri" is seen in Kashmiris. Prayer nodules in Muslims and traction alopecia in Sikhs illustrate how religious practices can negatively affect the skin. With increasing globalization and migration, the practice of indigenous customs and traditions is no longer limited to regional territories, making it imperative for the dermatologists to be acquainted with the cutaneous side effects they can cause. PMID:25657390

  5. Hospitalisations due to falls in older persons.

    LENUS (Irish Health Repository)

    Carey, D

    2005-06-01

    This paper describes hospitalisations due to falls among people aged 65 years and over resident in the Eastern Region of Ireland. Of the 2,029 hospitalisations recorded for 2002, 78% were female and 68% were aged 75 years and over. Fractures accounted for 1,697 or 84% of cases with nearly half of them (841) sustained to the hip. Females were more likely to have a limb fracture whereas males were more likely to have a head injury. The total inpatient costs of the 2,029 hospitalisations were estimated at 10.6 million euros. Hip fractures were the costliest injuries as they accounted for 7.4 million euros (70%) of inpatient costs. There are also substantial additional costs implications for hip fractures as they constituted the majority (56%) of cases transferred to nursing\\/convalescent homes or long-stay health facilities. In keeping with an ageing population, the problem of injuries in older people is likely to increase over time and as falls are the dominant cause of those injuries, all acute and long-stay health facilities need to develop and implement fall prevention strategies for older people.

  6. SUBSIDENCE DUE TO GEOTHERMAL FLUID WITHDRAWAL

    Energy Technology Data Exchange (ETDEWEB)

    Narasimhan, T.N.; Goyal, K.P.

    1982-10-01

    Single-phase and two-phase geothermal reservoirs are currently being exploited for power production in Italy, Mexico, New Zealand, the U.S. and elsewhere. Vertical ground displacements of upto 4.5 m and horizontal ground displacements of up to 0.5 m have been observed at Wairakei, New Zealand that are clearly attributable to the resource exploitation. Similarly, vertical displacements of about 0.13 m have been recorded at The Geysers, California. No significant ground displacements that are attributable to large-scale fluid production have been observed at Larderello, Italy and Cerro Prieto, Mexico. Observations show that subsidence due to geothermal fluid production is characterized by such features as an offset of the subsidence bowl from the main area of production, time-lag between production and subsidence and nonlinear stress-strain relationships. Several plausible conceptual models, of varying degrees of sophistication, have been proposed to explain the observed features. At present, relatively more is known about the physical mechanisms that govern subsidence than the relevant thermal mechanisms. Although attempts have been made to simulate observed geothermal subsidence, the modeling efforts have been seriously limited by a lack of relevant field data needed to sufficiently characterize the complex field system.

  7. [Right atrium rupture due to blunt trauma].

    Science.gov (United States)

    Suzuki, Kazuhiro; Thuboi, H; Okada, H

    2008-03-01

    We report 2 cases of surgical treatment of blunt cardiac trauma. The postoperative course was uneventful in either case. Pericardial drainage in patients with cardiac rupture should be performed with preparation for thoracotomy. Case 1: A 34-year-old male, hit in the chest by a collapsing 700-kg steel rod, was transported to our hospital via ambulance. The patient was diagnosed as having a cardiac rupture by echocardiography and underwent emergency thoracotomy. The right atrium near the inferior vena cava (IVC) was damaged, though bleeding from the wound had already ceased. No suture hemostusis was needed. Case 2: A 63-year-old female was hit by a car and transported to our hospital due to blunt trauma to the chest. Low blood pressure and chest computed tomography demonstrated cardiac tamponade, and subxiphoid pericardial drainage was performed. Blood pressure was recovered, but persistent hemorrhage necessitated emergency thoracotomy, which revealed a laceration at the right atrium near IVC. The injury was sutured to achieve complete hemostasis. PMID:18323181

  8. Subsidence due to geothermal fluid withdrawal

    Energy Technology Data Exchange (ETDEWEB)

    Narasimhan, T.N.; Goyal, K.P.

    1982-10-01

    Single-phase and two-phase geothermal reservoirs are currently being exploited for power production in Italy, Mexico, New Zealand, the U.S. and elsewhere. Vertical ground displacements of upto 4.5 m and horizontal ground displacements of up t o 0.5 m have been observed at Wairakei, New Zealand that are clearly attributable to the resource exploitation. Similarly, vertical displacements of about 0.13 m have been recorded at The Geysers, California. No significant ground displacements that are attributable to large-scale fluid production have been observed at Larderello, Italy and Cerro Prieto, Mexico. Observations show that subsidence due to geothermal fluid production is characterized by such features as an offset of the subsidence bowl from the main area of production, time-lag between production and subsidence and nonlinear stress-strain relationships. Several plausible conceptual models, of varying degrees of sophistication, have been proposed to explain the observed features. At present, relatively more is known about the physical mechanisms that govern subsidence than the relevant therma mechanisms. Although attempts have been made to simulate observed geothermal subsidence, the modeling efforts have been seriously limited by a lack of relevant field data needed to sufficiently characterize the complex field system.

  9. Sepsis due to clostridium septicum: case report

    Energy Technology Data Exchange (ETDEWEB)

    Foga, M.M.; McGinn, G.J.; Kroeker, M.A. [Univ. of Manitoba Teaching Hospitals, St. Boniface General Hospital, Dept. of Radiology, Winnipeg, Manitoba (Canada); Guzman, R. [Univ. of Manitoba Teaching Hospitals, St. Boniface General Hospital, Dept. of Surgery, Winnipeg, Manitoba (Canada)

    2000-04-15

    Clostridium septicum is an unusual anaerobic, gram-positive, gas-producing bacillus, which has been identified as a cause of fulminant rapidly fatal infection in humans. Infection with C. septicum usually occurs in patients with cancer, patients receiving immunosuppressive chemotherapy, or patients with a nonmalignant hematological disorder such as hemolytic uremic syndrome. C. septicum infection most commonly involves the abdomen, and a recent review article has identified 164 cases in the medical literature describing the abdominal findings in this disease. Intracranial manifestation of C. septicum infection are less common and include meningitis, cerebritis, abscess formation and pneumocephalus. There have been only 12 documented cases in the English literature describing central nervous system lesions associated with C. septicum. We present a case report of a 56-year-old man in whom septicemia due to C. septicum developed as a complication of Crohn's disease. To our knowledge, there has never been a previous report of C. septicum sepsis related to underlying Crohn's disease. Our case is also remarkable in that an intracerebral gas collection developed at the site of a mycotic infarct related to C. septicum bacteremia, Intracranial, intraparenchymal gas formation related to anaerobic infection is extremely rare; to our knowledge, this radiological finding related to C. septicum sepsis has been described in only 1 previous case report in the medical literature. We also describe the intra-abdominal manifestations of C. septicum sepsis that occurred in this patient as well as the associated radiographic and pathologic findings. (author)

  10. Particle resuspension due to human walking

    International Nuclear Information System (INIS)

    In nuclear facilities, during normal operations in controlled areas, workers could be exposed to radioactive aerosols (1 μm ≤ dp ≤ 10 μm). One of the airborne contamination sources is particles that are initially seeded on the floor and could be removed by workers while they are walking. During the outage of EDF nuclear facilities, there is a resuspension of some radionuclides in aerosol form (1 μm ≤ dp ≤ 10 μm). Since the number of co-activity will increase in reactors buildings of EDF, it becomes important to understand particle resuspension due to the activity of the operators to reduce their radiation exposure. The purpose of this Ph.D thesis is to quantify the resuspension of particles due to the progress of operators on a contaminated soil. Thus, the approach is to combine an aerodynamic resuspension model with numerical calculations of flow under a shoe, and then to characterize experimentally some input parameters of the model (particle diameter, adhesion forces, shoes motion). The resuspension model Rock'n'Roll proposed by Reeks and Hall (2001) was chosen because it describes physically the resuspension mechanism and because it is based on the moment of forces applied to a particle. This model requires two input parameters such as friction velocity and adhesion forces distribution applied on each particle. Regarding the first argument, numerical simulations were carried on using the ANSYS CFX software applied to a safety shoe in motion (digitized by 3D CAO); the mapping of friction velocity shows values of about 1 m.s-1 for an angular average velocity of 200 degrees.s-1. As regards the second parameter, AFM (Atomic Force Microscopy) measurements were carried out with alumina and cobalt oxide particles in contact with epoxy surfaces representative of those encountered in EDF power plants. AFM provides the distribution of adhesion forces and reveals a much lower value than what can be calculated theoretically using JKR model (Johnson et

  11. Pediatric Cardiac Arrest Due to Trauma.

    Science.gov (United States)

    Kjellemo, Hugo; Hansen, Andreas E; Øines, Dennis A; Nilsen, Thor O; Wik, Lars

    2016-01-01

    Survival from pediatric cardiac arrest due to trauma has been reported to be 0.0%-8.8%. Some argue that resuscitation efforts in the case of trauma-related cardiac arrests are futile. We describe a successful outcome in the case of a child who suffered cardiac arrest caused by external traumatic airway obstruction. Our case illustrates how to deal with pediatric traumatic cardiac arrests in an out-of-hospital environment. It also illustrates how good clinical treatment in these situations may be supported by correct treatment after hospital admission when it is impossible to ventilate the patient to provide sufficient oxygen delivery to vital organs. This case relates to a lifeless child of 3-5 years, blue, and trapped by an electrically operated garage door. The first ambulance arrived to find several men trying to bend the frame and the door apart in order to extricate the child, who was hanging in the air with head and neck squeezed between the horizontally-moving garage door and the vertical door frame. One paramedic found a car jack and used it to push the door and the frame apart, allowing the lifeless child to be extricated. Basic life support was then initiated. Intubation was performed by the anesthesiologist without drugs. With FiO2 1.0 the first documented SaO2 was <50%. Restoration of Spontaneous Circulation was achieved after thirty minutes, and she was transported to the hospital. After a few hours she was put on venous-arterial ECMO for 5.5 days and discharged home after two months. Outpatient examinations during the rest of 2013 were positive, and the child found not to be suffering from any injuries, either physical or mental. The last follow-up in October 2014 demonstrated she had made a 100% recovery and she started school in August 2014. PMID:26930137

  12. Muscular dystrophies due to glycosylation defects.

    Science.gov (United States)

    Muntoni, Francesco; Torelli, Silvia; Brockington, Martin

    2008-10-01

    In the last few years, muscular dystrophies due to reduced glycosylation of alpha-dystroglycan (ADG) have emerged as a common group of conditions, now referred to as dystroglycanopathies. Mutations in six genes (POMT1, POMT2, POMGnT1, Fukutin, FKRP and LARGE) have so far been identified in patients with a dystroglycanopathy. Allelic mutations in each of these genes can result in a wide spectrum of clinical conditions, ranging from severe congenital onset with associated structural brain malformations (Walker Warburg syndrome; muscle-eye-brain disease; Fukuyama muscular dystrophy; congenital muscular dystrophy type 1D) to a relatively milder congenital variant with no brain involvement (congenital muscular dystrophy type 1C), and to limb-girdle muscular dystrophy (LGMD) type 2 variants with onset in childhood or adult life (LGMD2I, LGMD2L, and LGMD2N). ADG is a peripheral membrane protein that undergoes multiple and complex glycosylation steps to regulate its ability to effectively interact with extracellular matrix proteins, such as laminin, agrin, and perlecan. Although the precise composition of the glycans present on ADG are not known, it has been demonstrated that the forced overexpression of LARGE, or its paralog LARGE2, is capable of increasing the glycosylation of ADG in normal cells. In addition, its overexpression is capable of restoring dystroglycan glycosylation and laminin binding properties in primary cell cultures of patients affected by different genetically defined dystroglycanopathy variants. These observations suggest that there could be a role for therapeutic strategies to overcome the glycosylation defect in these conditions via the overexpression of LARGE. PMID:19019316

  13. Diabetes due to recurrent pancreatitis secondary to hypercalcemia due to primary hyperparathyroidism

    Directory of Open Access Journals (Sweden)

    Sumit Kumar Chakrabarti

    2013-01-01

    Full Text Available Acute pancreatitis due to hypercalcemia associated with hyperparathyroidism (HPT is not very common. We herein report a case of a 21-year-old woman, who presented with acute pancreatitis. She had a past history of recurrent nephrolithiasis. Subsequent evaluation revealed hypercalcemia (serum calcium: 12.6 mg/dL; low phosphate (2.9 mg/dL with elevated parathyroid hormone (PTH, 156.7 pg/mL and HbA1c (6.9%. Diagnosis of primary HPT (PHPT was made. Recurrent pancreatitis due to hypercalcemia may have resulted in diabetes mellitus.

  14. [Psychotic episode due to Hashimoto's thyroiditis].

    Science.gov (United States)

    Nazou, M; Parlapani, E; Nazlidou, E-I; Athanasis, P; Bozikas, V P

    2016-01-01

    Thyroid hormones are crucial in adult brain metabolic activity. As a result, abnormal thyroid gland function and in particular hypofunction, might cause principally depression and neurocognitive dysfunction. Psychosis, presented mainly with thought disorders and perceptual disturbances, is a much rarer manifestation of hypothyreoidism. A correlation between hypothyreoidism and psychosis has been described since 1888, especially in cases of advanced hypothyreoidism. A few years later (1949), Asher first added the terminology "myxedema madness" to the literature. Psychotic symptoms typically appear after the onset of physical symptoms, usually with a delay of months or years. The case of a female patient who presented a psychotic episode as a first manifestation of hypothyroidism will be described. NE, a 48 yearold female patient, was admitted for the first time to an inpatient mental health care unit due to delusions of persecution and reference, as well as auditory hallucinations that appeared a few weeks ago. After the patient admission, routine laboratory examination was conducted. In order to relieve the patient from her sense of discomfort and while awaiting laboratory results, olanzapine, 5 mg/day, was administered. Neurological examination and cranial computed tomography scan were unremarkable. Hormonal laboratory tests though revealed severe low thyroid hormone levels. Thyroid antibody testing certified Hashimoto's thyroiditis. Olanzapine was discontinued and the patient received thyroid hormone substitution, levothyroxine 75 μg/day, instead. The patient was discharged showing a significant improvement of psychotic symptoms after a 12-day hospitalization. A month later the patient was reevaluated. She had fully recovered from the psychotic episode. A year later, the patient continues to remain free from psychiatric symptoms, while thyroid hormone levels have been restored within normal range. The patient continues receiving only thyroid hormone substitution

  15. DUE PROGETTI NELLA SCUOLA PLURILINGUE E INTERCULTURALE

    Directory of Open Access Journals (Sweden)

    Franca Bosc

    2012-07-01

    Full Text Available Per rispondere alle esigenze sempre più crescenti di una scuola plurilingue e interculturale alcuni anni fa nelle scuole torinesi sono stati realizzati due progetti, a cura della Divisione Servizi educativi del Comune di Torino. Il primo “Guarda, ce la fai” ha riunito scuole elementari e medie in un lavoro finalizzato alla realizzazione di un percorso multimediale di insegnamento dell’Italiano come L2 che permettesse il raggiungimento del livello A2 del Quadro comune europeo di riferimento (QCER, fosse facilmente utilizzabile, risultasse ampliabile e modificabile in funzione delle esigenze della singola realtà e costituisse un modello per i docenti su come costruire materiali per l’insegnamento della L2. Il risultato è un CD-Rom con sequenze video ed esercizi. Il secondo “Guarda come abbiamo fatto” raccoglie 14 percorsi interculturali di altrettante scuole elementari e medie e riflette sui curricula scolastici nelle diverse aree geografiche culturali, sulla metodologia interculturale e sui possibili percorsi per affrontare la lingua delle discipline. Gli apprendenti stranieri costituiscono il target privilegiato cui è rivolto il progetto, anche se esso ha finalità educative che riguardano anche gli studenti italofoni. Il DVD prodotto presenta in modo completo e dettagliato i percorsi attuati dalle scuole; ciascun percorso si è proposto di affrontare in chiave interculturale un tema disciplinare.TWO PROJECTS IN A MULTILINGUAL, INTERCULTURAL SCHOOL SETTINGTo meet the growing needs of a multilingual, intercultural school setting, a few years ago two projects were implemented by the Educational Services Department of the Municipality of Turin. The first, “Guarda, ce la fai” was aimed at elementary and middle school students and focused on teaching Italian L2 using multimedia materials in order to reach an A2 level (Quadro comune europeo di riferimento - QCER, that was easy to put into effect and could be modified based on the

  16. River flooding due to intense precipitation

    International Nuclear Information System (INIS)

    River stage can rise and cause site flooding due to local intense precipitation (LIP), dam failures, snow melt in conjunction with precipitation or dam failures, etc. As part of the re-evaluation of the design basis as well as the PRA analysis of other external events, the likelihood and consequence of river flooding leading to the site flooding need to be examined more rigorously. To evaluate the effects of intense precipitation on site structures, the site watershed hydrology and pond storage are calculated. To determine if river flooding can cause damage to risk-significant systems, structures, and components (SSC), water surface elevations are analyzed. Typically, the amount and rate of the input water is determined first. For intense precipitation, the fraction of the rainfall in the watershed drainage area not infiltrated into the ground is collected in the river and contributes to the rise of river water elevation. For design basis analysis, the Probable Maximum Flood (PMF) is evaluated using the Probable Maximum Precipitation (PMP) based on the site topography/configuration. The peak runoff flow rate and water surface elevations resulting from the precipitation induced flooding can then be estimated. The runoff flow hydrograph and peak discharge flows can be developed using the synthetic hydrograph method. The standard step method can then be used to determine the water surface elevations along the river channel. Thus, the flood water from the local intense precipitation storm and excess runoff from the nearby river can be evaluated to calculate the water surface elevations, which can be compared with the station grade floor elevation to determine the effects of site flooding on risk-significant SSCs. The analysis needs to consider any possible diversion flow and the effects of changes to the site configurations. Typically, the analysis is performed based on conservative peak rainfall intensity and the assumptions of failure of the site drainage facilities

  17. Pure dysarthria due to cerebral infarction

    International Nuclear Information System (INIS)

    No large case series of pure dysarthria due to stroke has been reported. We investigated the anatomical lesions in patients with pure dysarthria by examining findings on brain magnetic resonance imaging (MRI), including diffusion-weighted imaging. We reviewed the admission records of 835 consecutive patients who presented for treatment between April 2003 and March 2008. We selected the patients with pure dysarthria and investigated findings from magnetic resonance imaging (MRI), 3-dimensional magnetic resonance angiography (3-D MRA), single photon emission computed tomography (SPECT), and carotid artery echography, as well as the prothrombin time-international ratio (PT-INR) and D-dimer measurement. A total of 20 patients had pure dysarthria (17 men, 3 women; frequency, 2.4%). Facial nerve paresis was noted in 8 patients and poor tongue movement in 7. Seven patients had more than 2 cerebrovascular risk factors for stroke. Twelve patients initially visited other departments; 6 initially presented to the otorhinolaryngology department. Brain MRI revealed that in 15 patients, left-side lesions had caused the pure dysarthria. The corresponding lesions were located in the internal capsule in 8 patients, in the cerebral cortex in 4, in the corona radiata in 4, in the putamen in 2, in the cerebral peduncle in 1, and in the pons in 1. Three-dimensional MRA showed marked stenosis of the middle cerebral artery in 1 patient. Sixteen patients had lacunar infarction, and cerebral emboli were implicated in the pathogenesis of infarction in 4 patients. Brain SPECT data showed significant hypoperfusion in the central and pre-central regions on the side of the infarct. Carotid artery echograms and MR imaging of lesions were not correlated. PT-INR and D-dimer were not associated with the clinical type of cerebral infarction. Although pure dysarthria is likely a rare condition, it should be considered in patients with cerebral infarction. Brain MRI revealed that the topographically

  18. Change of minerals due to external radiation

    International Nuclear Information System (INIS)

    The thesis contains new results on radio-induced alteration in solids, presenting investigations on alpha-particle haloes in several minerals (chlorite, muscovite, biotite, cordierite, diamond, fluorite, quartz, feldspars) and results of artificial irradiation experiments (with He2+ and O6+ ions, electrons and gamma-rays) on natural and synthetic crystals and glasses. Samples were characterised using modern micro- and nano-techniques: spectroscopic methods (Raman, PL, CL, IR, UV-VIS-NIR, EELS, EPR), microscopy (polarisation microscopy, SEM, TEM), diffraction (SAED, PXRD, SXRD) and chemical analysis (EDX, WDX, in addition TG). Furthermore, the presented work yields a comprehensive literature review of investigations on radiohaloes (from 1873 until present day) and is completed by results of mathematical modelling and Monte-Carlo-simulations of the interaction of radiation with matter. In all cases, there was very good agreement between measured penetration depths of irradiated particles and radiohalo radii on the one hand and particle ranges calculated by Monte-Carlo-simulations on the other hand. The phenomena of either inexplicably small or large radiohaloes (so called dwarf or giant haloes) reported in the literature could be explained using geometrical models and simulations. For the first time, radiohaloes in muscovite were analysed by spectroscopic methods. A comparison with haloes in chlorite and biotite showed that alpha-induced effects are similar in all investigated sheet silicates: It was observed in all cases that there is no amorphization but merely radio-induced disturbance of the short range order (due to accumulation of point defects). Changes of the coloration of sheet silicates are not caused by distinct additional absorption bands but by a shift of the high-energy absorption edge into the visible range. By obtaining spectra from different regions within haloes, it was possible to reconstruct the dose-dependent evolution of radio-induced light

  19. A highly polymorphic (ACT)n VNTR (variable nucleotide of tandem repeats) locus inside intron 12 of COL1A2, one of the two genes involved in dominant osteogenesis imperfecta.

    Science.gov (United States)

    Pepe, G

    1993-01-01

    A new, highly polymorphic, region consisting of variable number of tandem repeats (VNTR) is described that occurs within intron 12 of the COL1A2 gene. This VNTR consists of the trinucleotide ACT repeated from 6 to 12 times. Of the six alleles so far detected four are common in the three major races. The two rare alleles, (ACT)11 and (ACT)12, have been found only in Africans. In addition, a rapid technique has been developed that can be used successfully with very small amounts of even partially degraded DNA, thus allowing the use of this VNTR for forensic applications. Since dominant OI can be due to mutations at either of two loci (COL1A1 and COL1A2) prenatal diagnosis becomes feasible in the majority of the affected families only if a very informative marker is available for both of these genes. This VNTR provides a very powerful marker for COL1A2. In fact the heterozygosity for it ranges from 0.634 to 0.741 with PIC values from 0.562 to 0.696, respectively. Since trinucleotide repeats can be "unstable," and sometimes pathogenic, the unexplained collagenopathies (or suspected collagenopathies) should be analyzed from this point of view. PMID:8104634

  20. 45 CFR 1627.4 - Membership fees or dues.

    Science.gov (United States)

    2010-10-01

    ... 45 Public Welfare 4 2010-10-01 2010-10-01 false Membership fees or dues. 1627.4 Section 1627.4... AND MEMBERSHIP FEES OR DUES § 1627.4 Membership fees or dues. (a) LSC funds may not be used to pay membership fees or dues to any private or nonprofit organization, whether on behalf of a recipient or...

  1. 20 CFR 718.205 - Death due to pneumoconiosis.

    Science.gov (United States)

    2010-04-01

    ... 20 Employees' Benefits 3 2010-04-01 2010-04-01 false Death due to pneumoconiosis. 718.205 Section... DEATH DUE TO PNEUMOCONIOSIS Determining Entitlement to Benefits § 718.205 Death due to pneumoconiosis. (a) Benefits are provided to eligible survivors of a miner whose death was due to pneumoconiosis....

  2. Stress Response Pathways in Ameloblasts: Implications for Amelogenesis and Dental Fluorosis

    OpenAIRE

    Bartlett, John D.; Sierant, Megan L.

    2012-01-01

    Human enamel development of the permanent teeth takes place during childhood and stresses encountered during this period can have lasting effects on the appearance and structural integrity of the enamel. One of the most common examples of this is the development of dental fluorosis after childhood exposure to excess fluoride, an elemental agent used to increase enamel hardness and prevent dental caries. Currently the molecular mechanism responsible for dental fluorosis remains unknown; howeve...

  3. A novel de novo mutation in LAMB3 causes localized hypoplastic enamel in the molar region.

    Science.gov (United States)

    Kim, Young-Jae; Shin, Teo J; Hyun, Hong-Keun; Lee, Sang-Hoon; Lee, Zang H; Kim, Jung-Wook

    2016-08-01

    Amelogenesis imperfecta (AI) is a collection of diseases characterized by hereditary enamel defects and is heterogeneous in genetic etiology and clinical phenotype. In this study, we recruited a nuclear AI family with a proband having unique irregular hypoplastic pits and grooves in all surfaces of the deciduous molar teeth but not in the deciduous anterior teeth. Based on the candidate gene approach, we screened the laminin subunit beta 3 (LAMB3) gene and identified a novel de novo mutation in the proband. The mutation was a frameshift mutation caused by a heterozygous 7-bp deletion in the last exon (c.3452_3458delAGAAGCG, p.Glu1151Valfs*57). This study not only expands the mutational spectrum of the LAMB3 gene causing isolated AI but also broadens the understanding of genotype-phenotype correlations. PMID:27220909

  4. Forstørret nakkefold kan ses ved osteogenesis imperfecta

    DEFF Research Database (Denmark)

    Schönewolf-Greulich, Bitten; Skibsted, Lillian; Maroun, Lisa Leth;

    2011-01-01

    present case, ultrasound scanning at 13 weeks of gestation showed a NT of 3.2 mm and no other pathological findings. At 20 weeks a severe skeletal dysplasia was diagnosed by ultrasound. The pathology report of the aborted foetus indicated OI, and DNA analysis confirmed a COL1A1 mutation....

  5. Evolution and failure of liquid bridges between grains due to evaporation and due to extension

    Science.gov (United States)

    Hueckel, T.; Mielniczuk, B.; Said El Youssoufi, M.

    2012-04-01

    Evolution and rupture of liquid bridges between glass spheres during liquid evaporation and during mechanical extension was examined. The latter type of the tests has been widely studied, while a number of pertinent measurements during transient evaporation have not yet been reported. Also the resultant total capillary forces were measured and geometrical characteristics (curvature radii)were recorded with a photo camera and high-speed camera and subsequently digitalized. The obtained results reveal substantial differences in geometry of liquid bridges during extension and evaporation. On the other hand, evaporation and extension of liquid bridgelead to a similar qualitative response in terms of the pressure within the liquid bridge, starting with a significant suction, which initially somewhat increases during evaporation to reach a maximum, followed by a rapid monotonic decrease until zero, to become a sizable positive pressure prior to rupture. Extension same pattern is followed, except that there is no initial suction increase. Hence, in both cases, rupture consistently occurs at a positive fluid pressure. The pressure evolution is a simple resultant of the evolution of radii of curvature, with the neck radius becoming smaller than meridian radius. In terms of resultant capillary force, as the area of the bridge cross-section decreases with the square of the neck radius, the pressure difference is almost entirely negative, in part also due to surface tension component. Nevertheless, the suction decreases nearly monotonically during both processes. Rupture during evaporation of the bridges occurs most abruptly for larger separations, as early as after 25% volume evaporated. It is seen as a bifurcation of the geometry of equilibrium, as demonstrated on a movie with 27, 000 shots per second. The evolution of a bridge between three spheres exhibits a centrally located thin film instability with a circular hole growing within 1/3000th of a second. All these findings

  6. 29 CFR 452.87 - Dues paid by checkoff.

    Science.gov (United States)

    2010-07-01

    ... 29 Labor 2 2010-07-01 2010-07-01 false Dues paid by checkoff. 452.87 Section 452.87 Labor... DISCLOSURE ACT OF 1959 Right To Vote § 452.87 Dues paid by checkoff. A member in good standing whose dues are... arrears when the union changes to a checkoff system. The member may not be denied the right to vote...

  7. 12 CFR 34.5 - Due-on-sale clauses.

    Science.gov (United States)

    2010-01-01

    ... 12 Banks and Banking 1 2010-01-01 2010-01-01 false Due-on-sale clauses. 34.5 Section 34.5 Banks... General § 34.5 Due-on-sale clauses. A national bank may make or acquire a loan or interest therein, secured by a lien on real property, that includes a due-on-sale clause. Except as set forth in 12...

  8. Intestinal Necrosis due to Giant Ovarian Cyst: A Case Report

    OpenAIRE

    Ali Duran; Fulay Yilmaz Duran; Fevzi Cengiz; Ozgur Duran

    2013-01-01

    Intestinal pathologies due to ovarian cyst are observed rarely. Although a limited number of cases in neonatal and adolescent periods have been observed, no adult case has been reported in the literature. Two mechanisms are involved in intestinal complications due to ovarian cysts: torsion due to adhesion or compression of giant ovarian mass with a diameter of 9-10 cm. We report here a terminal ileum necrosis case due to compression by an ovarian cyst with 11 × 10 × 7 cm size in an 81-year-ol...

  9. The application of high-resolution melting analysis in gene mutation screening of osteogenesis imperfecta%高分辨率熔解曲线分析在成骨不全相关基因突变筛查中的应用

    Institute of Scientific and Technical Information of China (English)

    白雪; 李克秋; 李光; 任秀智; 常小丽; 张天可; 官士珍; 王毅

    2015-01-01

    Objective To explore the application of high-resolution melting analysis (HRMA) in gene mutations screening of osteogenesis imperfecta(OI).Methods Clinical data of five children with OI was collected from March to December 2012 in Tianjin Hospital.Blood samples from five children with OI and their parents with a family history of OI were collected as well as normal controls.All exons and their flanking sequences of COL1 A1 and COL1 A2 gene were screened using PCR-HRMA and validated by the gene sequencing.Results PCR-HRMA showed abnormal results from five children in the COL1Al gene exon l 1,exon 39,exon 8 and the COL1A2 gene exon 19 screening area,respectively.Melting curves of children with OI were differences from normal controls,which showed the mutations of genes.Standard melting curve showed five children with mutations of heterozygous mutation.Sequencing analysis showed that children with COL1A1 gene mutation,c.768dupC,c.2644C > T,c.635G > A and COL1A2 gene mutation c.982G > A,c.948C >T,respectively.COL1A1 gene mutation caused a premature stop codon in children 1,2 and clinical diagnosis with type Ⅰ OI.Genetic mutations in children 3,4 with OI in alpha helix structure domain Gly alternative,and clinical diagnosis with type Ⅳ O1.Children 5 gene mutation was nonsense mutations.This variation is not the cause of OI,Which possible causes need to be researched.Conclusions PCR-HRMA has a low cost,easy operation,fast,high flux,pollution-free advantages.PCR-HRMA is a new effective method for OI mutation screening.The study found a new mutation of COL1 A1 gene,c.768dupC.%目的 探讨高分辨率熔解曲线分析(HRMA)在成骨不全(OI)相关基因突变筛查中的应用价值.方法 收集2012年3月至12月于天津医院住院的5例OI患儿临床资料.采集患儿、有家族史患儿父母及查体健康者(正常对照)血液标本,PCR-HRMA筛查患儿COLlAl/COLlA2基因所有外显子及其侧翼序列,基因测序确定突变位点.有家族

  10. Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation.

    Science.gov (United States)

    Bardet, Claire; Courson, Frédéric; Wu, Yong; Khaddam, Mayssam; Salmon, Benjamin; Ribes, Sandy; Thumfart, Julia; Yamaguti, Paulo M; Rochefort, Gael Y; Figueres, Marie-Lucile; Breiderhoff, Tilman; Garcia-Castaño, Alejandro; Vallée, Benoit; Le Denmat, Dominique; Baroukh, Brigitte; Guilbert, Thomas; Schmitt, Alain; Massé, Jean-Marc; Bazin, Dominique; Lorenz, Georg; Morawietz, Maria; Hou, Jianghui; Carvalho-Lobato, Patricia; Manzanares, Maria Cristina; Fricain, Jean-Christophe; Talmud, Deborah; Demontis, Renato; Neves, Francisco; Zenaty, Delphine; Berdal, Ariane; Kiesow, Andreas; Petzold, Matthias; Menashi, Suzanne; Linglart, Agnes; Acevedo, Ana Carolina; Vargas-Poussou, Rosa; Müller, Dominik; Houillier, Pascal; Chaussain, Catherine

    2016-03-01

    Claudin-16 protein (CLDN16) is a component of tight junctions (TJ) with a restrictive distribution so far demonstrated mainly in the kidney. Here, we demonstrate the expression of CLDN16 also in the tooth germ and show that claudin-16 gene (CLDN16) mutations result in amelogenesis imperfecta (AI) in the 5 studied patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC). To investigate the role of CLDN16 in tooth formation, we studied a murine model of FHHNC and showed that CLDN16 deficiency led to altered secretory ameloblast TJ structure, lowering of extracellular pH in the forming enamel matrix, and abnormal enamel matrix protein processing, resulting in an enamel phenotype closely resembling human AI. This study unravels an association of FHHNC owing to CLDN16 mutations with AI, which is directly related to the loss of function of CLDN16 during amelogenesis. Overall, this study indicates for the first time the importance of a TJ protein in tooth formation and underlines the need to establish a specific dental follow-up for these patients. PMID:26426912

  11. Antenatal MR diagnosis of urinary hydrometrocolpos due to urogenital sinus

    Energy Technology Data Exchange (ETDEWEB)

    Subramanian, Subramanian; Sharma, Raju; Gamanagatti, Shivanand [All India Institute of Medical Sciences, Department of Radiodiagnosis, New Delhi (India); Agarwala, Sandeep [All India Institute of Medical Sciences, Department of Pediatric Surgery, New Delhi (India); Gupta, Prerna; Kumar, Sunesh [All India Institute of Medical Sciences, Department of Obstetrics and Gynaecology, New Delhi (India)

    2006-10-15

    Hydrometrocolpos is cystic dilatation of the vagina and uterus due to congenital vaginal obstruction. It may be secretory or urinary in character and manifests in the neonatal period with abdominal distension. Urinary hydrometrocolpos occurs in patients with urogenital sinus or cloacal anomaly. A rare case of antenatal MR diagnosis of urinary hydrometrocolpos due to urogenital sinus is presented. (orig.)

  12. 38 CFR 3.385 - Disability due to impaired hearing.

    Science.gov (United States)

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2010-07-01 2010-07-01 false Disability due to... Considerations Relative to Specific Diseases § 3.385 Disability due to impaired hearing. For the purposes of applying the laws administered by VA, impaired hearing will be considered to be a disability when...

  13. Antenatal MR diagnosis of urinary hydrometrocolpos due to urogenital sinus

    International Nuclear Information System (INIS)

    Hydrometrocolpos is cystic dilatation of the vagina and uterus due to congenital vaginal obstruction. It may be secretory or urinary in character and manifests in the neonatal period with abdominal distension. Urinary hydrometrocolpos occurs in patients with urogenital sinus or cloacal anomaly. A rare case of antenatal MR diagnosis of urinary hydrometrocolpos due to urogenital sinus is presented. (orig.)

  14. Nonlinear drift wave instability due to nonlinear structures

    International Nuclear Information System (INIS)

    A nonlinear instability due to zonal flows and magnetic islands has been found. The instability has the character of a dissipative drift instability due to an anomalous resistivity. The anomalous resistivity is typically two orders of magnitude larger than the classical at the edge. (author)

  15. 46 CFR 401.427 - Charge on past due accounts.

    Science.gov (United States)

    2010-10-01

    ... 46 Shipping 8 2010-10-01 2010-10-01 false Charge on past due accounts. 401.427 Section 401.427... REGULATIONS Rates, Charges, and Conditions for Pilotage Services § 401.427 Charge on past due accounts. A charge of two percent (2%) per month shall be paid on the opening monthly balance on accounts...

  16. Matting Of Hair Due To ′Sunsilk′ Shampoo

    OpenAIRE

    Nadeem Mohd

    1995-01-01

    Matting of hair been reported from time to time due to treatment of hair with detergent, shampoos, waving lotions, setting lotions and bleaches. A case of matting of hairs in a young girl due to a change in the brand of shampoo is reported.

  17. Matting Of Hair Due To ′Sunsilk′ Shampoo

    Directory of Open Access Journals (Sweden)

    Nadeem Mohd

    1995-01-01

    Full Text Available Matting of hair been reported from time to time due to treatment of hair with detergent, shampoos, waving lotions, setting lotions and bleaches. A case of matting of hairs in a young girl due to a change in the brand of shampoo is reported.

  18. 26 CFR 1.162-15 - Contributions, dues, etc.

    Science.gov (United States)

    2010-04-01

    ... 26 Internal Revenue 2 2010-04-01 2010-04-01 false Contributions, dues, etc. 1.162-15 Section 1.162-15 Internal Revenue INTERNAL REVENUE SERVICE, DEPARTMENT OF THE TREASURY (CONTINUED) INCOME TAX... Contributions, dues, etc. (a) Contributions to organizations described in section 170—(1) In general....

  19. Three cases of thyrotoxic periodic paralysis due to painless thyroiditis

    OpenAIRE

    Debmalya Sanyal; Moutusi Raychaudhuri; Shakya Bhattacharjee

    2013-01-01

    We present three cases of thyrotoxic periodic paralysis (TPP) due to painless thyroiditis presenting as acute quadriparesis. All responded to potassium supplementation and propranolol. TPP may be due to thyrotoxicosis of any etiology, commonly Grave's disease. The absence of clinical signs of thyrotoxicosis can delay diagnosis and treatment. Thyroid function tests should be a routine evaluation in all cases of hypokalemic periodic paralysis.

  20. An Analytical Model of Wake Deflection Due to Shear Flow

    NARCIS (Netherlands)

    Micallef, D.; Simao Ferreira, C.J.; Sant, T.; Van Bussel, G.J.W.

    2010-01-01

    The main motivation behind this work is to create a purely analytical engineering model for wind turbine wake upward deflection due to shear flow, by developing a closed form solution of the velocity field due to an oblique vortex ring. The effectiveness of the model is evaluated by comparing the re

  1. Small bowel perforation due to fish bone: A case report.

    Science.gov (United States)

    Pulat, Huseyin; Karakose, Oktay; Benzin, Mehmet Fatih; Benzin, Seyma; Cetin, Recep

    2015-09-01

    Accidental ingestion of foreign bodies are a common condition in clinical practice. However, small bowel perforation which dues to ingestion foreign bodies has been rarely seen. In this article, we report a case of small bowel perforation which dues to ingestion foreign body. A 80-year-old female patient, presenting with complaints of acute abdomen, was admitted to the emergency department. She denied abdominal pain, nausea and vomiting. The patient had tenderness and defense on the right lower quadrant. Contrast enhanced abdominal computed tomography has been used on the patient's diagnosis. This revealed small bowel perforation due to the ingestion of foreign body. The patient was operated emergency. A microperforation due to fish bone was detected on the terminal ileum. The patient underwent debridement and primary repair. The patient was discharged postoperative 7th day without problem. Bowel perforation due to the ingestion of foreign bodies should be considered in the differential diagnosis of acute abdomen. PMID:27239615

  2. Scope and limitations of due process in administrative proceedings

    Directory of Open Access Journals (Sweden)

    Bernardo Carvajal Sánchez

    2010-12-01

    Full Text Available In order to explain in a better way the scope of Due Process in Administrative Law as a legal norm whose respect is essential to all government agencies, three points of view (formal, structural and material are proposed. Those items seem useful to understand “Administrative Due Process” in all its dimensions: as a constitutional norm developed by the enactment of laws and decrees; as a principle inspiring some conducts and new norms; and as an objective and subjective fundamental right. On the other hand, it is shown that Administrative Due Process is not an absolute rule because in some cases its full application is subject to normative relativism. Two opposite trends can be perceived at this point: in the first place, government agencies usually do not act the same way judges do, so Administrative Due Process should be distinguished from Judicial Due Process; therefore, it could actually have a more restricted scope. In the second place, some administrative authorities are nowadays playing a role more or less similar to what judges do. This means that new procedural guarantees will be claimed. In any case, admitting valid limitations to Administrative Due Process leads to the quest of the limits of these limitations. The application of the rule of Due Process cannot be totally suppressed; its scope cannot be completely reduced. This is the result of its fundamental nature as a legal norm that ensures justice and equity in all administrative procedures, and proscribes random decisions.

  3. ESA DUE Permafrost: An Earth observation (EO) permafrost monitoring system

    OpenAIRE

    Birgit Heim; Annett Bartsch; Kirsten Elger; Hugues Lantuit; Julia Boike; Sina Muster; Moritz Langer; Claude Duguay; Sonia Hachem; Aiman Soliman; Christoph Paulik; Tazio Strozzi; Frank-Martin Seifert

    2011-01-01

    The task of the ESA Data User Element (DUE) Permafrost project is to build up an Earth Observation service for permafrost applications with extensive involvement of the permafrost research community. The DUE Permafrost remote sensing products are ‘Land Surface Temperature’ (LST), ‘Surface Soil Moisture’ (SSM), ‘Frozen/ Thawed Surface Status’ (Freeze/Thaw), ‘Terrain’, ‘Land Cover’ (LC), and ‘Surface Waters’. A major component is the evaluation of the DUE Permafrost products to test their s...

  4. [Unusual location of a brain abscess due to Listeria monocytogenes].

    Science.gov (United States)

    Coste, J-F; Duval, V; Nguyen, Y; Guillard, T; Brasme, L; David, C; Strady, C; Lecuit, M; de Champs, C

    2012-10-01

    Here we report a case of sustentorial brain abscess due to Listeria monocytogenes. Blood culture and procalcitonine blood measurement were negative. L. monocytogenes was isolated from CSF after inoculation in Castañeda medium. PMID:21835558

  5. Charged dust dynamics - Orbital resonance due to planetary shadows

    Science.gov (United States)

    Horanyi, M.; Burns, J. A.

    1991-01-01

    The dynamics of a weakly charged dust grain orbiting in the equatorial plane of a planet surrounded by a rigidly corotating magnetospehre is examined. It is shown that an introduction of an effectilve 1D potential causes a perturbation due to electrostatic forces, which induces a motion of the pericenter, similar to the effect of the planetary oblateness. A case is examined where the charge varies periodically due to the modulation of the photoelectron current occurring as the grain enters and leaves the planetary shadow, causing the electromagnetic perturbation to resonate with the orbital period and to modify the size and eccentricity of the orbit. This effect is demonstrated both numerically and analytically for small grains comprising the Jovian ring, showing that their resulting changes are periodic, and their amplitude is much larger than that of the periodic changes due to light-pressure perturbation or the secular changes due to resonant charge variations that develop over a comparable time span.

  6. Tablets or scalpel: Pituitary hyperplasia due to primary hypothyroidism

    Directory of Open Access Journals (Sweden)

    Ahmed Imran Siddiqi, MBBS, MRCP

    2015-01-01

    Full Text Available We describe a patient with pituitary hyperplasia due to primary hypothyroidism. Pituitary hyperplasia and pituitary masses cannot be reliably differentiated on imaging alone, despite significant improvement in imaging quality in recent years.

  7. Contamination of ionization chamber due to tritium exposure

    International Nuclear Information System (INIS)

    The contamination of three ionization chambers (Cu, Ni-plated, and Au-plated chambers) due to exposure to HT or HTO was measured. Considerable contamination took place for all of the chambers due to exposure to HTO. This is caused by the physical adsorption of HTO. The extent of the contamination differed from each other (Ni > Au > Cu), being considered due to difference in their surface roughness. In case of the exposure to HT, the Cu-chamber was contaminated in room air, whereas the Ni-chamber did in dry air atmosphere. This is considered due to the adsorption of HTO (being formed with catalytic exchange reaction between HT and H2O) on the Cuchamber and that of HT on the Ni-chamber. The Au-chamber was not contaminated with the exposure to HT. This is because neither the adsorption of HT nor the catalytic exchange reaction takes place on this surface

  8. Sound Attenuation in Quark Matter Due to Pairing Fluctuations

    CERN Document Server

    Kerbikov, Boris

    2016-01-01

    The sound wave in dense quark matter is subject to strong absorption due to diquark field fluctuations above T critical. The result is another facet of Mandelshtam-Leontovich slow relaxation time theory.

  9. Probabilistic naturalness measure for dipole moments due to new physics

    OpenAIRE

    アカマ, ケイイチ; ハットリ, タカシ; カツウラ, カズオ /; Keiichi, Akama; Takashi, Hattori; Kazuo, KATSUURA

    2006-01-01

    We introduce a probabilistic measure of naturalness (naturalness level) to fix naturalness bounds quantitatively. It is applied to the anomalous magnetic moments and the electric dipole moments due to new physics.

  10. Probabilistic Naturalness Measure for Dipole Moments due to New Physics

    OpenAIRE

    Akama, Keiichi; Hattori, Takashi; Katsuura, Kazuo

    2003-01-01

    We introduce a probabilistic measure of naturalness (naturalness level) to fix naturalness bounds quantitatively. It is applied to the anomalous magnetic moments and the electric dipole moments due to new physics.

  11. Fournier's Gangrene due to Masturbation in an Otherwise Healthy Male

    OpenAIRE

    Heiner, Jason D; Eng, Katisha D.; Bialowas, Todd A.; Diane Devita

    2012-01-01

    Fournier's gangrene is a rare and often fulminant necrotizing fasciitis of the perineum and genital region frequently due to a synergistic polymicrobial infection. This truly emergent condition is typically seen in elderly, diabetic, or otherwise immune-compromised individuals. Here, we report an unusual case of Fournier's gangrene due to excessive masturbation in an otherwise healthy 29-year-old male who presented to the emergency department complaining of two days of fever, vomiting, and di...

  12. Acute Prostatitis Due to Brucellosis; Report of Two Cases

    OpenAIRE

    Alper Ozorak

    2014-01-01

    Brucellosis is an endemic disease in Turkey. The clinical features of brucellosis are not disease specific; and almost every organ can be affected. In males, genitourinary localization is reported in 2%-20% of cases. Unilateral epididiymo-orchitis is the usual manifestation. Prostatitis due to brucellosis is a very rare condition. In this article we reported two cases exhibit acute prostatitis due to Brucellosis.

  13. Attenuation of 3CM Microwaves Due to Artificial Rain

    Directory of Open Access Journals (Sweden)

    J. K. Singh

    1966-04-01

    Full Text Available Observations to study the variation of attenuation of 3cm waves due to falling of water or artificial rain are confined to the high rates of precipitation and short distance between the transmitter and receiver, due to low power of the microwave generator. A comparison of these observations and those recorded by others shows that the attenuation increases nonlinearly with the intensity of artificial rainfall which is generally assumed to be linear for the observations at lower rates of precipitation.

  14. Ileocolic intussusception due to Burkitt lymphoma: a case report

    OpenAIRE

    Bălănescu, NR; Topor, L; Malureanu, D; I. Stoica

    2013-01-01

    Burkitt lymphoma has many forms of clinical presentations and, in children, it is usually discovered due to the presence of an abdominal mass. This rapidly growing tumor is highly malignant, aggressive, and may cause either indirect symptoms, due to pressure phenomena or direct involvement of the bowel lumen, leading to either intestinal obstruction or intussusception. We describe the case of a 4-year-old girl who exhibited an unusual presentation of ileocolic intussusception on a Burkitt lym...

  15. Acute small bowel obstruction due to chicken bone bezoar

    OpenAIRE

    Vetpillai P; Oshowo A

    2012-01-01

    Preadeepan Vetpillai,1 Ayo Oshowo21CT2 Surgery in General, Charing Cross Hospital, 2Colorectal and Laparoscopic Surgery, Whittington Hospital, London, UKAbstract: Acute intestinal obstruction due to foreign bodies, or bezoar, is a rare occurrence in an adult with a normal intestinal tract. We report an unusual case of a 43-year-old black man with no previous abdominal surgery and no significant medical history who presented with an acute episode of small bowel obstruction due to an impacted u...

  16. Three cases of thyrotoxic periodic paralysis due to painless thyroiditis

    Directory of Open Access Journals (Sweden)

    Debmalya Sanyal

    2013-01-01

    Full Text Available We present three cases of thyrotoxic periodic paralysis (TPP due to painless thyroiditis presenting as acute quadriparesis. All responded to potassium supplementation and propranolol. TPP may be due to thyrotoxicosis of any etiology, commonly Grave′s disease. The absence of clinical signs of thyrotoxicosis can delay diagnosis and treatment. Thyroid function tests should be a routine evaluation in all cases of hypokalemic periodic paralysis.

  17. Gastric Necrosis due to Acute Massive Gastric Dilatation

    Directory of Open Access Journals (Sweden)

    Ibrahim Aydin

    2013-01-01

    Full Text Available Gastric necrosis due to acute massive gastric dilatation is relatively rare. Vascular reasons, herniation, volvulus, acute gastric dilatation, anorexia, and bulimia nervosa play a role in the etiology of the disease. Early diagnosis and treatment are highly important as the associated morbidity and mortality rates are high. In this case report, we present a case of gastric necrosis due to acute gastric dilatation accompanied with the relevant literature.

  18. Intestinal obstruction due to Basidiobolus ranarum: An unusual case

    Directory of Open Access Journals (Sweden)

    Angeline Neetha Radjou

    2011-01-01

    Full Text Available A case of intestinal obstruction caused by extensive soft tissue fungal infection of the perineum due to Basidiobolus ranarum is presented here. There was excellent response to antifungal treatment. A literature search revealed the case report of intestinal obstruction due to intrinsic mucosal involvement by the fungus, but extensive soft tissue involvement of the perineum resulting in extraneous obstruction to the rectum, has not been reported so far.

  19. Intestinal obstruction due to Basidiobolus ranarum: An unusual case

    OpenAIRE

    Angeline Neetha Radjou; Rajesh, N. G.

    2011-01-01

    A case of intestinal obstruction caused by extensive soft tissue fungal infection of the perineum due to Basidiobolus ranarum is presented here. There was excellent response to antifungal treatment. A literature search revealed the case report of intestinal obstruction due to intrinsic mucosal involvement by the fungus, but extensive soft tissue involvement of the perineum resulting in extraneous obstruction to the rectum, has not been reported so far.

  20. Bowel obstruction due to diaphragmatic injury after penetrating thoracic trauma

    OpenAIRE

    KARASU, Sezgin; Tokat, Arif Osman; Barlas, Aziz Mutlu; Urhan, Mustafa Kemal

    2013-01-01

    Diaphragmatic injuries due to penetrating traumas to the thorax progress insidiously. Proper diagnosis might only be performed after months. Delayed diagnosis increases morbidity and mortality. Herein, we present a case of diaphragm injury due to penetrating thoracic trauma that was diagnosed 2 years later. The case was referred to emergency service with bowel obstruction symptoms and after the examinations, first laparotomy and then thoracotomy were performed. The trace of the injury tract s...

  1. The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders.

    Science.gov (United States)

    Bailleul-Forestier, Isabelle; Molla, Muriel; Verloes, Alain; Berdal, Ariane

    2008-01-01

    The genetic control of dental development represents a complex series of events, which can very schematically be divided in two pathways: specification of type, size and position of each dental organ, and specific processes for the formation of enamel and dentin. Several genes linked with early tooth positioning and development, belong to signalling pathways and have morphogenesis regulatory functions in morphogenesis of other organs where they are associated with the signalling pathways. Their mutations often show pleïotropic effects beyond dental morphogenesis resulting in syndromic developmental disorders. Some genes affecting early tooth development (MSX1, AXIN2) are associated with tooth agenesis and systemic features (cleft palate, colorectal cancer). By contrast, genes involved in enamel (AMELX, ENAM, MMP20, and KLK4) and dentin (DSPP) structures are highly specific for tooth. Mutations in these genes have been identified as causes of amelogenesis imperfecta, dentinogenesis imperfecta, dentin dysplasias and anomalies of teeth number (hypo-, oligo and anodontia), which only partially overlap with the classical phenotypic classifications of dental disorders. This review of genetic basis of inherited anomalies describes, in this first paper, the molecular bases and clinical features of inherited non-syndromic teeth disorders. And in a second part, the review focus on genetic syndromes with dental involvement. PMID:18499550

  2. A State-of-the-Art Survey of Due Date Assignment and Scheduling Research: Common Due Date

    OpenAIRE

    Gordon, Valery; Proth, Jean-Marie; Chu, Chengbin

    1998-01-01

    In this paper, we aim at providing a unified framework of the common due date assignment and scheduling problems in the deterministic case by surveying the literature concerning the models involving single machine and parallel machines. We focus on static production settings in which a fixed set of is available for processing as opposed to dynamic production settings where jobs continuously arrive in the system and should be scheduled on-line. The problems with due date determination have rec...

  3. Clinical predictors of lacunar syndrome not due to lacunar infarction

    Directory of Open Access Journals (Sweden)

    Comes Emili

    2010-05-01

    Full Text Available Background Lacunar syndrome not due to lacunar infarct is poorly characterised. This single centre, retrospective study was conducted to describe the clinical characteristics of patients with lacunar syndrome not due to lacunar infarct and to identify clinical predictors of this variant of lacunar stroke. Methods A total of 146 patients with lacunar syndrome not due to lacunar infarction were included in the "Sagrat Cor Hospital of Barcelona Stroke Registry" during a period of 19 years (1986-2004. Data from stroke patients are entered in the stroke registry following a standardized protocol with 161 items regarding demographics, risk factors, clinical features, laboratory and neuroimaging data, complications and outcome. The characteristics of these 146 patients with lacunar syndrome not due to lacunar infarct were compared with those of the 733 patients with lacunar infarction. Results Lacunar syndrome not due to lacunar infarct accounted for 16.6% (146/879 of all cases of lacunar stroke. Subtypes of lacunar syndromes included pure motor stroke in 63 patients, sensorimotor stroke in 51, pure sensory stroke in 14, atypical lacunar syndrome in 9, ataxic hemiparesis in 5 and dysarthria-clumsy hand in 4. Valvular heart disease, atrial fibrillation, sudden onset, limb weakness and sensory symptoms were significantly more frequent among patients with lacunar syndrome not due to lacunar infarct than in those with lacunar infarction, whereas diabetes was less frequent. In the multivariate analysis, atrial fibrillation (OR = 4.62, sensorimotor stroke (OR = 4.05, limb weakness (OR = 2.09, sudden onset (OR = 2.06 and age (OR = 0.96 were independent predictors of lacunar syndrome not due to lacunar infarct. Conclusions Although lacunar syndromes are highly suggestive of small deep cerebral infarctions, lacunar syndromes not due to lacunar infarcts are found in 16.6% of cases. The presence of sensorimotor stroke, limb weakness and sudden onset in a patient

  4. Identification of Corrosion Products Due to Seawater and Fresh Water

    Energy Technology Data Exchange (ETDEWEB)

    Gismelseed, A.; Elzain, M.; Yousif, A.; Al Rawas, A.; Al-Omari, I. A.; Widatallah, H.; Rais, A. [College of Science, Department of Physics (Oman)

    2004-12-15

    Moessbauer and X-ray diffraction (XRD) measurements were performed on corrosion products extracted from the inner surface of two different metal tubes used in a desalination plant in Oman. One of the tubes corroded due to the seawater while the second was corroded due to fresh water. The corrosion products thus resulted due to seawater were scrapped off in to two layers, the easily removable rust from the top is termed outer surface corrosion product and the strongly adhered rust as internal corrosion product. The Moessbauer spectra together with the XRD pattern of the outer surface showed the presence of magnetite (Fe{sub 3}O{sub 4}), akaganeite ({beta}-FeOOH), lepidocrocite ({gamma}-FeOOH), goethite ({alpha}-FeOOH) and hematite (Fe{sub 2}O{sub 3}). The inner surface however showed the presence of akaganite, goethite, and magnetite. On the other hand, the corrosion products due to the fresh water showed only the presence of goethite and magnetite. The mechanism of the corrosion process will be discussed based on the significant differences between the formation of the iron components of the corrosion products due to seawater and the fresh water.

  5. Acute vertebrobasilar ischemic stroke due to electric injury.

    Science.gov (United States)

    Singh Jain, Rajendra; Kumar, Sunil; Suresh, Desai Tushar; Agarwal, Rakesh

    2015-07-01

    Electrical injuries are most commonly due to household accidents.Various factors determine the severity of electric injury, including type of current, amperage, voltage, tissue resistance, pathway of current,and duration of contact with the body. Various types of neurologic damage due to electrical injury have been described in literature. It may manifest as peripheral nerve injury, spinal cord damage, seizures, cerebellarataxia, hypoxic encephalopathy, and intracerebral hemorrhage. Acute ischemic stroke is an infrequent complication of electrical injury. Herein,we report a case of middle-aged man, who accidentally sustained high voltage electrical injury followed by acute vertebrobasilar ischemic stroke. Magnetic resonance imaging of the brain showed acute infarctin bilateral cerebellar and medial occipital regions. Computed tomographic angiogram of the brain and neck vessels was normal. Possibly,in our patient, the mechanism could be related to direct vascular injury due to electric current. PMID:25684743

  6. Small Bowel Perforation due to Gossypiboma Caused Acute Abdomen.

    Science.gov (United States)

    Colak, Tahsin; Olmez, Tolga; Turkmenoglu, Ozgur; Dag, Ahmet

    2013-01-01

    Gossypiboma, an infrequent surgical complication, is a mass lesion due to a retained surgical sponge surrounded by foreign body reaction. In this case report, we describe gossypiboma in the abdominal cavity which was detected 14 months after the hysterectomy due to acute abdominal pain. Gossypiboma was diagnosed by computed tomography (CT). The CT findings were a rounded mass with a dense central part and an enhancing wall. In explorative laparotomy, small bowel loops were seen to be perforated due to inflammation of long standing gossypiboma. Jejunal resection with end-to-end anastomosis was performed. The patient was discharged whithout complication. This case was presented to point to retained foreign body (RFB) complications and we believed that the possibility of a retained foreign body should be considered in the differential diagnosis of who had previous surgery and complained of pain, infection, or palpable mass. PMID:24288645

  7. Retinitis due to opportunistic infections in Iranian HIV infected patients.

    Directory of Open Access Journals (Sweden)

    Ali Abdollahi

    2013-10-01

    Full Text Available We tried to evaluate prevalence and characteristics of Iranian HIV infected patients with retinitis due to opportunistic infections. In this cross sectional study, we evaluated 106 HIV infected patients via indirect ophthalmoscopy and slit lamp examination by 90 lens to find retinitis cases. General information and results of ophthalmologic examination were analyzed. Prevalence of retinitis due to opportunistic infections was 6.6%: cytomegalovirus (CMV retinitis 1.88%, toxoplasmosis retinochoroiditis 1.88% and tuberculosis chorioretinitis 2.83%. CD4 count was higher than 50 cell/µlit in both cases with CMV retinitis. Along with increasing survival in the HIV infected patients, the prevalence of complications such as ocular manifestation due to opportunistic infections are increasing and must be more considered.

  8. Electromotive force due to magnetohydrodynamic fluctuations in sheared rotating turbulence

    Science.gov (United States)

    Squire, J.; Bhattacharjee, A.

    2015-11-01

    This article presents a calculation of the mean electromotive force arising from general small-scale magnetohydrodynamical turbulence, within the framework of the second-order correlation approximation. With the goal of improving understanding of the accretion disk dynamo, effects arising through small-scale magnetic fluctuations, velocity gradients, density and turbulence stratification, and rotation, are included. The primary result, which supplements numerical findings, is that an off-diagonal turbulent resistivity due to magnetic fluctuations can produce large-scale dynamo action—the magnetic analog of the "shear-current" effect. In addition, consideration of α effects in the stratified regions of disks gives the puzzling result that there is no strong prediction for a sign of α , since the effects due to kinetic and magnetic fluctuations, as well as those due to shear and rotation, are each of opposing signs and tend to cancel each other.

  9. Electromotive force due to magnetohydrodynamic fluctuations in sheared rotating turbulence

    Energy Technology Data Exchange (ETDEWEB)

    Squire, J. [Dept Astrophys Sci, Max Planck Princeton Ctr Plasma Phys, Princeton, NJ 08543 USA; Princeton Plasma Physics Lab. (PPPL), Princeton, NJ (United States); Bhattacharjee, A. [Dept Astrophys Sci, Max Planck Princeton Ctr Plasma Phys, Princeton, NJ 08543 USA; Princeton Plasma Physics Lab. (PPPL), Princeton, NJ (United States)

    2015-11-01

    This article presents a calculation of the mean electromotive force arising from general small-scale magnetohydrodynamical turbulence, within the framework of the second-order correlation approximation. With the goal of improving understanding of the accretion disk dynamo, effects arising through small-scale magnetic fluctuations, velocity gradients, density and turbulence stratification, and rotation, are included. The primary result, which supplements numerical findings, is that an off-diagonal turbulent resistivity due to magnetic fluctuations can produce large-scale dynamo action-the magnetic analog of the "shear-current" effect. In addition, consideration of alpha effects in the stratified regions of disks gives the puzzling result that there is no strong prediction for a sign of alpha, since the effects due to kinetic and magnetic fluctuations, as well as those due to shear and rotation, are each of opposing signs and tend to cancel each other.

  10. Coastal Flooding Hazards due to storm surges and subsidence

    DEFF Research Database (Denmark)

    Sørensen, Carlo; Knudsen, Per; Andersen, Ole B.

    Flooding hazard and risk mapping are major topics in low-lying coastal areas before even considering the adverse effects of sea level rise (SLR) due to climate change. While permanent inundation may be a prevalent issue, more often floods related to extreme events (storm surges) have the largest...... damage potential.Challenges are amplified in some areas due to subsidence from natural and/or anthropogenic causes. Subsidence of even a few mm/y may over time greatly impair the safety against flooding of coastal communities and must be accounted for in order to accomplish the economically most viable...

  11. Deterioration of concrete structures in coastal environment due to carbonation.

    Science.gov (United States)

    Balaji, K V G D; Gopalaraju, S S S V; Trilochan, Jena

    2010-07-01

    Failure of existing concrete structures takes place due to lack of durability, and not due to less structural strength. One of the important aspects of durability is carbonation depth. The rate of carbonation in concrete is influenced by both its physical properties and exposure conditions. Rebar corrodes when carbonation reaches to a depth of concrete cover provided. In the present work, various concrete structures with different life periods and exposed to different weather conditions have been considered to study the carbonation effect. It is observed that the effect of carbonation is more in the structures located near to the sea coast and on windward face of the structure. PMID:21391402

  12. Urinary Incontinence and Urosepsis due to Forgotten Ureteral Stent.

    Science.gov (United States)

    Barreiro, Diego Martin; Losada, Johanna Belén; Montiel, Francisco Castro; Lafos, Norberto

    2016-09-01

    Case report of a patient who, while being under study due to total urinary incontinence and multiple urinary tract infections, interoccurs with urosepsis due to a forgotten and encrusted double-J stent. An open surgery is performed with two surgical approaches, suprapubic and minimal lumbotomy, in which a nephrectomy of the atrophic kidney, a resection of the urether with a calcified double-J in its interior and a cystolithotomy were conducted with the resulting favorable resolution of the pathology. PMID:27547734

  13. Leqal-Ease Conducting Due Diligence in China

    Institute of Scientific and Technical Information of China (English)

    CHRIS; DEVONSHIRE-ELLIS

    2007-01-01

    Ninety percent of problems when set- ring up business in China can be avoided by the deployment of due diligence at the front end of the investment planning.Here we point out some of the areas that can hinder a sensible approach to due diligence,the hidden risks and basic checks.The process does not have to be expensive. Chinese business licenses You should ask for a copy.It will list(in Chinese)details of the legally responsible person,the registered address,the amount of registered capital(which is also the limit-

  14. Valuations of social costs due to electricity production

    International Nuclear Information System (INIS)

    This article describes the valuations of social costs due to the electricity production in Germany, United States and Italy. First, social costs are defined and the most frequently used methods to quantify them are described, then the application of these methods is shown together with the figures obtained in the above mentioned countries. Presently the assessments of social costs are understimated because many externalities, here listed, have not been taken into account either for methodological difficulties or for lack of data: however the assessments of the damages caused by the several polluting agents are quite consistent except with respect to the greenhouse effect due to CO2 emissions

  15. Acute small bowel obstruction due to chicken bone bezoar

    Directory of Open Access Journals (Sweden)

    Vetpillai P

    2012-12-01

    Full Text Available Preadeepan Vetpillai,1 Ayo Oshowo21CT2 Surgery in General, Charing Cross Hospital, 2Colorectal and Laparoscopic Surgery, Whittington Hospital, London, UKAbstract: Acute intestinal obstruction due to foreign bodies, or bezoar, is a rare occurrence in an adult with a normal intestinal tract. We report an unusual case of a 43-year-old black man with no previous abdominal surgery and no significant medical history who presented with an acute episode of small bowel obstruction due to an impacted undigested chicken bone.Keywords: small bowel obstruction, chicken bone, bezoar

  16. Is VHF Fresnel reflectivity due to low frequency buoyancy waves?

    Science.gov (United States)

    Vanzandt, T. E.; Vincent, R. A.

    1983-01-01

    VHF radar echoes are greatly enhanced near the zenith relative to other directions. This enhancement must be due to reflection from horizontally stratified laminate of refractive index. The refractivity laminate are due to the displacements of low frequency buoyancy (internal gravity) waves acting on the background vertical gradient of refractivity. VANZANDT (1982) has shown that the observed spectra of mesoscale wind fluctuations in the troposphere and lower stratosphere are modeled by a universal spectrum of buoyancy (internal gravity) waves. Since the observed frequency spectrum is red, the buoyancy wave model of the vertical displacement spectrum is strongly enhanced near the zenith. In other terms, the resulting refractivity irregularities are strongly stratified.

  17. WAVE TRANSMISSION AND REFLECTION DUE TO A THIN VERTICAL BARRIER

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    A numerical method, the boundary fitted coordinate method (BFC),was used to investigate the transmission and reflection of water waves due to a rigid thin vertical barrier descending from the water surface to a depth, i. e. , a curtain-wall type breakwater. A comparison between the present computed results and previous experimental and analytical results was carried out which verifies the prediction of the BFC method. Wave transmission and reflection due to the barrier were computed, and the transmission and refiection coefficients were given in a figure.

  18. Food poisoning due to Salmonella enterica serotype Weltevreden in Mangalore

    Directory of Open Access Journals (Sweden)

    Antony B

    2009-01-01

    Full Text Available An outbreak of food poisoning due to Salmonella enterica serotype Weltevreden ( S.weltevreden involving 34 students has been reported from a tertiary care hospital in Mangalore. The symptoms developed 8-10 hours, after consuming a non- vegetarian dish, probably fish, from an outside caterer. The identity of the organism was confirmed at Central Research Institute, Kasauli. This report emphasizes the geographical distribution of this organism in the Coastal Karnataka region. S.Weltevreden may be overlooked due to the biochemical similarity to S. Paratyphi B & S. Typhimurium.

  19. Winging of scapula due to serratus anterior tear

    Directory of Open Access Journals (Sweden)

    Varun Singh Kumar

    2014-10-01

    Full Text Available 【Abstract】Winging of scapula occurs most commonly due to injury to long thoracic nerve supplying serratus anterior muscle. Traumatic injury to serratus anterior muscle itself is very rare. We reported a case of traumatic winging of scapula due to tear of serratus anterior muscle in a 19-year-old male. Winging was present in neutral position and in extension of right shoulder joint but not on "push on wall" test. Patient was managed conservatively and achieved satisfactory result. Key words: Serratus anterior tear; Scapula; Wounds and injuries

  20. Chemical Fingerprinting of Materials Developed Due To Environmental Issues

    Science.gov (United States)

    Smith, Doris A.; McCool, A. (Technical Monitor)

    2000-01-01

    This paper presents viewgraphs on chemical fingerprinting of materials developed due to environmental issues. Some of the topics include: 1) Aerospace Materials; 2) Building Blocks of Capabilities; 3) Spectroscopic Techniques; 4) Chromatographic Techniques; 5) Factors that Determine Fingerprinting Approach; and 6) Fingerprinting: Combination of instrumental analysis methods that diagnostically characterize a material.

  1. Dues Check-off and Union Security Study.

    Science.gov (United States)

    National Center for the Study of Collective Bargaining in Higher Education Newsletter, 1974

    1974-01-01

    This document presents a review of what higher education agreements say about dues checkoff and union security. This study involved review of contracts negotiated by affiliates of the three national organizations, the American Association of University Professors (AAUP), the American Federation of Teachers (AFT), and the National Education…

  2. CT of intracerebral haemorrhage due to mycotic aneurysms

    International Nuclear Information System (INIS)

    The CT findings in a case of intracerebral haematoma due to rupture of a mycotic aneurysm are presented. In addition to the haematoma, CT demonstrated small focal areas of cortical enhancement, which correspond to the peripheral aneurysms seen on angiography. Such findings are thought to be characteristic; a brief differential diagnosis is discussed. (orig.)

  3. Return to work following sickness absence due to infectious mononucleosis

    NARCIS (Netherlands)

    Koopmans, P.C.; Bakhtali, R.; Katan, A.A.; Groothoff, J.W.; Roelen, C.A.

    2010-01-01

    BACKGROUND: Epstein-Barr virus infectious mononucleosis among adults is notorious because of the prolonged incapacitating fatigue it causes. AIMS: To investigate the duration of sickness absence and return to work following infectious mononucleosis. METHODS: Episodes of sickness absence due to infec

  4. Allais Measure of Production Sector Waste Due to Quotas, An

    OpenAIRE

    Lilyan E. Fulginiti; Richard K. Perrin

    1996-01-01

    Agricultural production quotas are policy instruments that many countries have adopted as a means of transferring income from consumers to producers. Here the partial equilibrium approach of Allais and Diewert is adapted to measure the efficiency loss in the production sector due to quotas. Published in American Journal of Agricultural Economics 77(November 1995):865-74. 1995.

  5. Occupational asthma due to polyethylene shrink wrapping (paper wrapper's asthma).

    OpenAIRE

    Gannon, P. F.; Burge, P S; Benfield, G F

    1992-01-01

    Occupational asthma due to the pyrolysis products of polyvinyl chloride (PVC) produced by shrink wrapping processes has previously been reported. The first case of occupational asthma in a shrink wrap worker using a different plastic, polyethylene, is reported; the association was confirmed by specific bronchial provocation testing.

  6. Midbroken Reinforced Concrete Shear Frames Due to Earthquakes

    DEFF Research Database (Denmark)

    Köylüoglu, H. U.; Cakmak, A. S.; Nielsen, Søren R. K.

    A non-linear hysteretic model for the response and local damage analyses of reinforced concrete shear frames subject to earthquake excitation is proposed, and, the model is applied to analyse midbroken reinforced concrete (RC) structures due to earthquake loads. Each storey of the shear frame is...

  7. Ice-volcanism due to tidal stress on Europa

    Institute of Scientific and Technical Information of China (English)

    LI Li; CHEN Chuxin

    2003-01-01

    Tectonism would be driven by tidal heat on Europa, and there may be ice-volcano on the surface of active Europa. We assume that ice-volcano would spurt out due to tidal stress, and calculate the velocity and height of the spurt inscale. We also find out the approximate distribution of the active volcanoes on Europa.

  8. Clinical analysis and treatment of central pain due to headinjury

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    @@Central pain is induced by the involvement of the abnormal pain pathway due to diseases of the central nervous system. Central pain after brain trauma is common clinically, but it is often misdiagnosed and neglected because of lack of objective disturbances. We treated 20 cases of central pain after head injury by invigorating blood circulation and satisfactory result was obtained.

  9. Acquired Localized Cutis Laxa due to Increased Elastin Turnover

    DEFF Research Database (Denmark)

    Nygaard, Rie Harboe; Maynard, Scott; Schjerling, Peter;

    2016-01-01

    Cutis laxa is a rare disease characterized by abnormal skin wrinkling and laxity, due to decreased elastin synthesis or structural extracellular matrix defects. We have explored elastin metabolism in a case of adult onset cutis laxa localized to the upper body of a woman. For this purpose, we obt...

  10. Necrotizing pneumonia after pharyngitis due to fusobacterium necrophorum

    Energy Technology Data Exchange (ETDEWEB)

    Kleinman, P.K.; Flowers, R.A.

    1984-01-01

    A case of necrotizing pneumonia secordary to Fusobacterium necrophorum is reported. This anaerobic infection commonly originates in the upper respiratory tract and is often accompanied by multiple system disease due to hematogeneous seeding. When the lungs are involved, diffuse necrotizing pneumonia with pleural effusions and cavitation result. The course is prolonged, and the diagnosis is frequently delayed. With appropriate antibiotics, the prognosis is good.

  11. Intraabdominal Hemorrhage Due to Spontaneous Rupture of Superior Mesenteric Artery

    Directory of Open Access Journals (Sweden)

    Onder Ozden

    2014-04-01

    Ehlers Danlos Syndrome Type IV should be kept in mind in cases of abdominal apoplexy. Repair of vascular complications could be impossible due to abnormal type III collagen leaded vascular fragility. [Cukurova Med J 2014; 39(2.000: 408-411

  12. Heart failure after aortic valve substitution due to severe hypothyroidism

    DEFF Research Database (Denmark)

    Munk, Kim; Sørensen, Stine Heidenheim; Andersen, Niels Holmark;

    2008-01-01

    We report a case of a 70-year-old female with considerable co-morbidities (Type 2 diabetes, Leiden factor V mutation, mild to moderate chronic obstructive pulmonary disease) and a recent biological aortic valve substitution, who was admitted due to circulatory collapse caused by severe heart fail...

  13. Results from investigations on natural radiation exposure due to ingestion

    International Nuclear Information System (INIS)

    Results of a measuring programme in Germany are given where long-lived radionuclides of the uranium and thorium series in samples of daily total diet for adults and sucklings were analysed. The resulting dose due to ingestion of terrestrial radionuclides has been calculated for all age groups and evaluated. (orig.)

  14. Nonsense regressions due to time-varying means

    OpenAIRE

    Hassler, Uwe

    1999-01-01

    Regressions of two independent time senes are considered. The variables are covariance stationary but display time-varying although not trending means. Two prominent examples are mean shifts due to structural breaks and seasonally varying means. If the variation of the means is not taken into account, this induces nonsense correlation. The asymptotic treatment is supplemented by experimental evidence.

  15. Urinary tract infection due to Enterobacter sakazakii

    OpenAIRE

    Bhat Gopalkrishna; Anandhi.R; Dhanya V; Shenoy Shalini

    2009-01-01

    Enterobacter sakazakii is a rare but important cause of necrotizing enterocolitis, bloodstream infection and central nervous system infections in humans, with mortality rates of 40-80%. It has not been reported to cause urinary tract infection. We report a case of urinary tract infection due to E. sakazakii in a 63-year-old lady with chronic renal failure.

  16. Imaging of chest disease due to intravenous heroin abuse

    International Nuclear Information System (INIS)

    Objective: To study the imaging findings of the chest disease due to intravenous heroin abuse. Methods: Twenty-five cases of clinically confirmed chest disease due to intravenous heroin abuse were retrospectively analyzed. 25 cases had conventional X-ray film, 6 cases had CT scanning, and 6 cases had echocardiography scanning. Results: On X-ray and CT, the following signs were found: lung making manifold (n = 5), small patchy shadow (n = 15), pneumatocele (n = 16), small cavity (n = 16), small node (n = 7), pleural effusion (n = 8 ), pneumothorax (n = 2), hydropneumothorax (n = 6), pulmonary edema (n = 2), megacardia (n = 11), multiple-shaped lesion (n = 20). On echocardiography, tricuspid vegetation (n = 4) and tricuspid insufficiency (n = 4) were found. Conclusion: The X-ray and CT manifestations of chest inflammation due to intravenous heroin abuse are multiple. The multiple small cavities and pneumatoceles sign are of some value in the diagnosis of lung inflammation due to intravenous heroin abuse among young patients

  17. Frequency of primary amenorrhea due to chromosomal aberration

    International Nuclear Information System (INIS)

    Objective: To find out the frequency of primary amenorrhea due to chromosomal aberration and the different options available for management. Subjects and Methods: All patients with primary amenorrhea due to chromosomal aberrations were included in study. Patient's detailed history, general physical examination, presence or absence of secondary sexual characteristics, abdominal and pelvic examination finding were noted. Targeted investigations, including ultrasound, hormonal assay, buccal smear and karyotyping results were recorded. The management options were individually tailored with focus n psychological management. Results: Eighteen patients out of 30,000 patients were diagnosed as having primary amenorrhea. Six had primary amenorrhea due to chromosomal aberrations with the frequency of 0.02%. The age at presentation was 20 years and above in 50%. The most common cause was Turner's syndrome seen in 4 out of 6. The presenting symptoms were delay in onset of menstruation in 05 patients and primary infertility in 01 patient. Conclusion: Primary amenorrhea due to chromosomal aberration is an uncommon condition requiring an early and accurate diagnosis. Turner's syndrome is a relatively common cause of this condition. Management should be multi-disciplinary and individualized according to the patient's age and symptom at presentation. Psychological management is very important and counselling throughout treatment is recommended. (author)

  18. Coupled analysis of building damage due to tunneling

    NARCIS (Netherlands)

    Giardina, G.; Hendriks, M.A.N.; Rots, J.G.

    2009-01-01

    Excavation works in urban areas require a preliminary risk damage assessment. In historical cities, the prediction of building response to settlements is necessary to reduce the risk of damage of the architectural heritage. The current method used to predict the building damage due to ground deforma

  19. Steven-Johnson syndrome due to ayurvedic drugs

    OpenAIRE

    Shivamurthy, Raghu Prasada M.; Ravindra Kallappa; Shashikala G.H Reddy; Rangappa, Druva Kumar B.

    2012-01-01

    Steven–Johnson syndrome may be considered as a cytotoxic immune reaction to drugs, infections etc. This is a case report of Steven–Johnson syndrome due to an ayurvedic preparation which was used in the treatment of mental retardation in a young girl.

  20. BEHAVIORAL CHANGES IN CATLA CATLA DUE TO FLUORIDATED TOOTHPASTE

    Directory of Open Access Journals (Sweden)

    Akhilesh Verma

    2015-08-01

    Full Text Available Asmall project was carried out on behavioral Aalteration in Catla catla due to toothpaste which contained fluoride as one of the content. The behavioral changes in feeding, swimming movement, body orientation, opercular activity, gulping activity, mucus secretion and body coloration were observed.

  1. Adult respiratory distress syndrome due to mycoplasma pneumonia.

    OpenAIRE

    Shah, D. C.; Muthiah, M. M.

    1996-01-01

    A previously fit 48-year-old man was admitted with an acute respiratory failure due to mycoplasma pneumonia that was confirmed by raised mycoplasma titre on complement fixation test. It was also associated with disseminated intravascular coagulopathy. The patient made a full recovery but required intermittent positive pressure ventilation.

  2. INTUSSUSCEPTION DUE TO ENTRAPPED ASCARIS: AN ULTRASOUND CASE REPORT

    OpenAIRE

    Prashant U; Bhawana D; Pradip B; Narendra G.

    2014-01-01

    Intestinal intussusception caused by ascaris is uncommon. Abdominal ultrasound is generally done as a first imaging investigation for abdominal symptoms. This report described the ultrasound features in this rare case of adult intussusception due to entrapped ascaris, making a significant contribution to radiological knowledge in diagnosing the cause at the earliest for better management.

  3. Integrated Operations - challenges due to technology reliance in collaboration

    OpenAIRE

    Finstad, Nina

    2015-01-01

    This study explores implications of Information and Collaboration Technology (ICT) mediated collaboration in relation to geographically separate collaboration facilities and practice. The main objectives have been to identify potential challenges due to the dependency on collaboration technology, increasing the insight into potential vulnerabilities arising in the interface between the operators and the collaboration technology and contributing to insight in potential areas of improvement. ...

  4. Reversible bilateral ureteric obstruction due to a pancreatic pseudocyst.

    OpenAIRE

    Gibson, G E; Tiernan, E; Cronin, C. C.; Ferriss, J B

    1993-01-01

    An unusual case of bilateral ureteric obstruction and hydronephrosis due to pancreatic pseudocyst formation, after an episode of acute pancreatitis is reported. All abnormalities resolved with conservative management. Possible reasons for such ureteric obstruction include periureteric fat necrosis by pancreatic enzymes and compression by the inflammatory mass.

  5. Tune spread due to magnetic multipoles in RHIC

    International Nuclear Information System (INIS)

    Analytical expressions have been obtained of the amplitude and momentum dependence of the transverse tunes due to magnetic multipoles and orbit misalignment. Based on these expressions, compensation methods are developed to minimize the tune spread in RHIC with the β* = lm design

  6. Particle-antiparticle asymmetry due to nonrenormalizable effective interactions

    International Nuclear Information System (INIS)

    A toy baryogenesis model is presented in which a net global charge is generated through out-of-equilibrium decays of a massive particle due to nonrenormalizable, effective interactions. The different generation scenarios are classified according to the regions of parameter space where they occur. Differences and similarities with renormalizable models are also discussed. copyright 1997 The American Physical Society

  7. Myopathy due to statin/fibrate use in the Netherlands

    NARCIS (Netherlands)

    Mantel-Teeuwisse, Aukje K; Klungel, Olaf H; Herings, Ron M C; van Puijenbroek, Eugène P; Porsius, Arijan J; de Boer, Anthonius

    2002-01-01

    OBJECTIVE: To estimate the number of expected cases of myopathy based on the prevalence of lipid-lowering drug use, and to compare this number with the observed number of cases of myopathy due to lipid-lowering drug use in the Netherlands. METHODS: Prevalence of lipid-lowering drug use in 1998 was e

  8. Procedural Due Process Rights for Parents under the IDEA.

    Science.gov (United States)

    Osborne, Allan G., Jr.

    1995-01-01

    This analysis of parents' procedural due process rights under the Individuals with Disabilities Education Act examines the 1982 case of Hendrick Hudson Central School District Board of Education versus Rowley and reviews principles concerning parental rights, parental notification, procedural errors, the Individualized Education Program conference…

  9. Cutaneous leishmaniasis with lymphadenopathy due to Leishmania donovani

    NARCIS (Netherlands)

    W.R. Faber; J. Wonders; A.J. Jensema; E. Chocholova; P.A. Kager

    2009-01-01

    Summary We describe a case of cutaneous leishmaniasis with lymphadenopathy due to Leishmania donovani, which was successfully treated with oral miltefosine. Given the increased prevalence of travelling, patients presenting with lymph-node enlargement should have leishmaniasis included in the differe

  10. First Case of Osteomyelitis Due to Shewanella algae

    OpenAIRE

    Botelho-Nevers, E.; Gouriet, F.; Rovery, C.; Paris, P.; Roux, V.; Raoult, D.; Brouqui, P.

    2005-01-01

    Shewanella spp. are infrequently recovered from clinical specimens. We report here on the first case of osteomyelitis due to Shewanella algae. This bacterium, at first misidentified by phenotypic tests as Shewanella putrefaciens, was subsequently identified correctly as S. algae by 16S rRNA gene sequence analysis.

  11. Corneal Transplant Infection due to Alternaria alternata: A Case Report

    Directory of Open Access Journals (Sweden)

    Vasileios Konidaris

    2013-01-01

    Full Text Available Purpose. To report a case of Alternaria alternata keratitis in a patient with a corneal transplant in her right eye due to bullous pseudophakic keratopathy. Methods. A 66-year-old female underwent a full-thickness keratoplasty in her right eye due to bullous pseudophakic keratopathy. Three weeks after keratoplasty, epithelial edema and a stromal opacity with an infiltrate and development of peripheral corneal opacities appeared. The diagnosis of Alternaria alternata keratitis was made. Results. The patient underwent a second keratoplasty, due to the corneal melting as a result of the fungal infection. She was also given combined antifungal treatment locally and systematically. Conclusion. Corneal transplantation alone would not have been sufficient to keep the fungus in the anterior portion of the eye. Combined antifungal treatment, locally and systematically, was important in attempting to prevent the further spread of the fungus to the interior of the eye. To our knowledge, the case presented here is only the second one in the literature concerning a keratomycosis due to Alternaria alternata corneal transplant infection.

  12. 3D MOSFET DEVICE EFFECTS DUE TO FIELD OXIDE

    OpenAIRE

    Thurner, M.; Selberherr, S.

    1988-01-01

    This paper presents 3D effects of MOSFET's due to the nonplanar nature of the field-oxide body. The investigations have been carried out by MINIMOS 5 our fully three-dimensional simulation program. Three-dimensional effects like threshold shift for small channel devices, channel narrowing and the enhanced conductivity at the channel edge have been successfully modeled.

  13. Exposure due to radon in homes - an IAEA perspective

    International Nuclear Information System (INIS)

    The results of miner and residential epidemiology studies provide statistically strong evidence of harmful effects of exposure due to radon and its progeny. With the publication of the fifth edition of the International Basic Safety Standards, of the World Health Organizations Handbook on Indoor Radon and new ICRP statement on radon, there is increased interest from the public health and radiation protection authorities on controlling exposure due to radon and its progeny.The IAEA Safety Requirements publication 'Radiation Protection and Safety of Radiation Sources: International Basic Safety Standards' sets out requirements on governments for control of existing exposure situations, which includes exposure due to radon. The types of situation that are included in the scope of existing exposure situations include exposure in workplaces for which the exposure due to radon is not required by or directly related to the work and for which annual average activity concentrations due to 222Rn must not exceed a maximum reference level of 1000 Bq/m3 annual activity concentration, as well as exposure in dwellings and in other buildings with high occupancy factors for members of the public for which the reference level must not exceed a maximum value of 300 Bq/m3. These requirements include: collecting data on the activity concentrations of radon in dwellings and other buildings with high occupancy by the public; providing information on exposure due to radon and the associated health risks; and if necessary, to develop an action plan for controlling public exposure to radon. The IAEA has developed a Safety Guide to provide guidance on developing the radon action plan: 'Protection of the Public against Exposure Indoors due to Radon and Other Natural Sources of Radiation'. This presentation will summarize the information on the assistance that the IAEA is currently providing to IAEA Member States to develop radon action plans. These activities include the

  14. Diagnostic criteria for acute liver failure due to Wilson disease

    Institute of Scientific and Technical Information of China (English)

    Christoph Eisenbach; Olivia Sieg; Wolfgang Stremmel; Jens Encke; Uta Merle

    2007-01-01

    AIM: To describe the diagnostic criteria for acute liver failure due to Wilson disease (WD), which is an uncommon cause of acute liver failure (ALF).METHODS: We compared findings of patients presenting with ALF due to WD to those with ALF of other etiologies.RESULTS: Previously described criteria, such as low alkaline phosphatase activity, ratio of low alkaline phosphatase to total bilirubin or ratio of high aspartate aminotransferase (AST) to alanine aminotransferase (ALT), failed to identify patients with ALF due to WD. There were significant differences in low ALT and AST activities (53 ± 43 vs 1982 ± 938, P < 0.0001 and 87 ± 44 vs 2756 ± 2941, P = 0.037, respectively), low choline esterase activity (1.79 ± 1.2 vs 4.30 ± 1.2, P = 0.009), high urine copper concentrations (93.4 ± 144.0 vs 3.5 ± 1.8, P = 0.001) and low hemoglobin (7.0 ± 2.2 vs 12.6 ± 1.8, P < 0.0001) in patients with ALF caused by WD as compared with other etiologies. Interestingly, 4 of 7 patients with ALF due to WD survived without liver transplantation.CONCLUSION: In ALF, these criteria can help establish a diagnosis of WD. Where applicable, slit-lamp examination for presence of Kayser-Fleischer rings and liver biopsy for determination of hepatic copper concentration still remain important for the diagnosis of ALF due to WD. The need for liver transplantation should be evaluated carefully as the prognosis is not necessarily fatal.

  15. Metal contamination in food-stuff due to polluted water

    International Nuclear Information System (INIS)

    In order to evaluate the level of trace metals in food-stuff, a study has been carried out in which 72 samples (eighteen from each) of wheat flour spinach, milk, and honey were collected from Rawalpindi and Islamabad areas. The samples were analyzed with the help of Atomic Absorption Spectrophotometer for Pb, Cd, Cu, Zn, Fe and Mn. Concentration of metals in milk, honey, spinach and flour are found to be high due to exposure of food-stuff in air and contaminated water. Lead and cadmium are heavy metals and have toxic effects when their concentration increases above the permissible level. However, Zn, Cu, Fe and Mn are essential elements at low level but may affect adversely when concentration of these elements increases in food materials, due to contaminated water use. (author)

  16. Mineral water 222 Rn activity decrease due to consumption habits

    International Nuclear Information System (INIS)

    Mineral waters from the Pocos de Caldas Plateau springs, an elevated region with high natural radioactivity, in the State of Minas Gerais, Brazil, have significant 222 Rn concentration on site. The highest concentration in the waters are from: Fonte Villela - Aguas da Prata (∼ 1000 Bql-1); Fonte Grande Hotel - Pocinhos do Rio Verde (∼ 400 Brq-1) and Fonte CNEN Lab - Pocos de Caldas (∼ 290 Bql-1). These waters are used by the population as drinking water and due to consumption habits, can lead to internal doses above accepted limits for the public. This work deals with the decrease of 222 Rn activity in mineral waters fro two different popular consumption habits, and with the adult effective dose equivalent reduction due to water consumption habits. It has been found that the estimated dose based on the biokinetic Crawford-Brown model, can be one fourth of dose based on 222 Rn activity on site. (author)

  17. Contamination of Ground Water Due To Landfill Leachate

    Directory of Open Access Journals (Sweden)

    M. V. S. Raju

    2012-12-01

    Full Text Available The present site under investigation at Ajitsingh Nagar in Vijayawada of Andhra Pradesh is initially a low lying area and used for disposing the urban solid waste for the last few years, through open dumping with out taking any measures to protect the Ground water against pollution. The present study has been taken up to measure the degree of pollution of ground water due to leachate produced in the landfill site. Bore holes were made at eight random locations to measure the depth and characteristics of solid waste. Four sampling wells were made for the collection of ground water samples and they were analyzed for various parameters. All parameters were measured based on Standard methods. It is found that the ground water is contaminated due leachates of Landfill to the large extent and is not suitable for Drinking, Domestic and Irrigation purposes.

  18. Drag increment due to internal waves generated by Rankine ovoid

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    The experimental results on drag increment caused by internal waves, which are generated by a Rankine ovoid towed horizontally at constant velocities in a two-layer stratified water (a strong pycnocline) initially at rest, are presented. The drag increment due to stratification is obtained experimentally as a function of internal Froude number Frd and Reynolds number Re. From the results, it is shown that as a function of Frd or Re, an increment in mean drag coefficient due to stratification ΔCd has both increasing and decreasing region attributable respectively to internal wave and to collapse of mixing fluids in the wakes. A most significant result shows that when Frd=0.838 there exists a maximum of ΔCd, which is equal to 0.05 in the exciting region of the strong internal wave generation.

  19. Dermatitis due to Mixed Demodex and Sarcoptes Mites in Dogs

    Directory of Open Access Journals (Sweden)

    B. Sudhakara Reddy

    2014-01-01

    Full Text Available In dogs, dermatitis due to mixed mite infestation is rare. During the five-year period of study, two dogs were identified suffering from dermatitis due to mixed Demodex and Sarcoptes mites. Upon clinical examination dogs had primary and secondary skin lesions on face, around the ears, chin, neck, fore limbs and lateral abdomen. Microscopic examination of skin scrapings revealed Demodex and Sarcoptes mites. Both dogs were treated with daily oral ivermectin at 100 to 400 μg/kg body weight as incremental doses, external application of amitraz and supportive treatments with topical antimicrobial shampoo. After completion of forty-two days of therapy, dogs were recovered from the dermatitis.

  20. MRI evaluation of pituitary hyperplasia due to primary hypothyroidism

    International Nuclear Information System (INIS)

    Objective: To analyze the MRI manifestations of the pituitary hyperplasia due to primary hypothyroidism and to improve the differential diagnosis of secondary pituitary hyperplasia and pituitary tumors. Methods: The MRI findings of pituitary hyperplasia in 10 documented primary hypothyroidism patients (male 3, female 7; age range: 9-15 years) were reviewed. The pulse sequences using a 1.0T MR scanner included coronal and sagittal T1W, coronal T2W and coronal contrast-enhanced T1W in all patients. Results: The pituitary gland was markedly enlarged with mean height of 15.5 mm (11-23 mm). Central bulging of pituitary gland was seen in all 10 patients with mild displacement of the infundibulum in 3 and sellar enlargement in 5. All glands had homogeneous MR signal intensities and contrast enhancement. Conclusion: Pituitary hyperplasia due to primary hypothyroidism has characteristic MR features of central bulging with homogeneous signal intensities and contrast enhancement. (authors)

  1. Detecting Climate Change due to Increasing Carbon Dioxide.

    Science.gov (United States)

    Madden, R A; Ramanathan, V

    1980-08-15

    The observed interannual variability of temperature at 60 degrees N has been investigated. The results indicate that the surface warming due to increased carbon dioxide which is predicted by three-dimensional climate models should be detectable now. It is not, possibly because the predicted warming is being delayed more than a decade by ocean thermal inertia, or because there is a compensating cooling due to other factors. Further consideration of the uncertainties in model predictions and of the likely delays introduced by ocean thermal inertia extends the range of time for the detection of warming, if it occurs, to the year 2000. The effects of increasing carbon dioxide should be looked for in several variables simultaneously in order to minimize the ambiguities that could result from unrecognized compensating cooling. PMID:17753291

  2. Spin current due to triplet superconductor - ferromagnet interfaces

    International Nuclear Information System (INIS)

    The interface between a superconductor and a ferromagnet is an ideal setting in which to study the complicated interplay of these two phases. Although the relevant physics is now very well understood for a spin singlet pairing state of the superconductor, qualitatively new phenomena can appear for a spin triplet pairing state due to the intrinsic spin structure of the superconductor. One such surprising result is the existence of a bulk spin supercurrent in the triplet superconductor due to spin-flip reflection of triplet Cooper pairs at the superconductor-ferromagnet interface. The resulting spin current displays strong similarities to the spontaneous charge current in a conventional Josephson junction. The dependence of the spin current on a number of relevant parameters is studied e.g. the orbital pairing state of the superconductor and the exchange splitting of the ferromagnet. The possibility of unconventional dynamics of the magnetization of the ferromagnet is discussed.

  3. Bacteremia due to Aeromonas hydrophila in Acute Lymphoblastic Leukemia

    International Nuclear Information System (INIS)

    Aeromonas hydrophila (A. hydrophila) is a low virulent organism but may cause devastating fatal infections in immunocompromised host especially in liver cirrhosis. It is rarely reported to cause septicemia in a patient with Acute Lymphoblastic Leukemia (ALL). The mortality rate of septicemia due to A. hydrophila is 29% to 73%. We report a case of 59-year-old female patient who was a known case of ALL, presented with the complaints of fever, lethargy and generalized weakness for one month. After taking blood samples for investigations, empirical antimicrobial therapy was started. She did not improve after 48 hours of therapy. Meanwhile blood culture revealed pure growth of A. hydrophila. After sensitivity report was available, ciprofloxacin was started. Patient became afebrile after 48 hours of treatment with ciprofloxacin. It is very vital to correctly identified and treat bacteremia due to A. hydrophila especially in the underlying leukemic patient. (author)

  4. Sudden unexpected death due to strangulated inguinal hernia.

    Science.gov (United States)

    Menezes, Ritesh G; Padubidri, Jagadish Rao; Raghavendra Babu, Y P; Naik, Ramadas; Kanchan, Tanuj; Senthilkumaran, Subramanian; Chawla, Khushboo

    2016-06-01

    Sudden unwitnessed, unexpected deaths when the bodies are found in public places require a complete and meticulous medicolegal autopsy to ascertain the cause and manner of death to avoid further unnecessary investigations by the legal authorities. Such deaths attributed to gastrointestinal causes at autopsy are relatively uncommon. We report a case of sudden unexpected death due to strangulated inguinal hernia in a 60-year-old man. The body was discovered in a public area near a place of worship. The present case illustrates a potentially preventable sudden unexpected death due to a surgically correctable gastrointestinal condition. In the present case, the individual feared being hospitalised for treatment of his scrotal swelling with potential surgery and the eventual loss of daily income. In our opinion, such apprehensions may have delayed the potentially life-saving hospital surgical intervention in the individual. PMID:26837567

  5. Correction due to finite speed of light in absolute gravimeters

    CERN Document Server

    Nagornyi, V D; Zanimonskiy, Y Y

    2010-01-01

    Correction due to finite speed of light is among the most inconsistent ones in absolute gravimetry. Formulas reported by different authors yield corrections scattered up to 8 $\\mu$Gal with no obvious reasons. The problem, though noted before, has never been studied, and nowadays the correction is rather postulated than rigorously proven. In this paper we investigate the problem from several prospectives, find the corrections for different types of absolute gravimeters, and establish relationships between different ways of implement them. The obtained results enabled us to analyze and understand the discrepancies in the results of other authors. We found that the correction derived from the Doppler effect is accountable only for $\\tfrac{2}{3}$ of the total correction due to finite speed of light, if no signal delays are considered. Another major source of inconsistency was found in the tacit use of simplified trajectory models.

  6. Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: Case report

    Directory of Open Access Journals (Sweden)

    Vlaški Jovan

    2008-01-01

    Full Text Available A girl with congenital adrenal hyperplasia due to 21 hydroxylase (CYP 21, p450c2l deficiency is the reviewed case. The clinical features (virilisation, clitoromegaly, rapid somatic growth, accelerated skeletal maturation and laboratory find­ings (high levels of plasma 17hydroxyprogesterone, corticotrophin - ACTH, testosterone and dehydroepiandrostenedione -DHEA, low level of plasma cortisol, high level of urine 17- ketosteroids, synacthen and luteinising hormone releasing hor­mone - LHRH test and the response to hydrocortisone therapy pointed at heterosexual gonadotrophin independent puberty due to irregular production of cortisol caused by 21 hydroxylase deficiency that leads to elevated ACTH and 17-hydroxy progesterone secretion and makes congenital adrenal hyper­plasia as entity. The six-month therapy resulted in the clinical and laboratory findings improvement, such as the decreased annual growth of body height and the stagnation in the devel­opment of the secondary sexual features.

  7. The Methods For Reducing Pain Due To Intramuscular Injection

    OpenAIRE

    Dilek KARA

    2013-01-01

    The preparation and implementation properly of intramuscular injections is one of the important nursing procedures. Intramuscular injection is an application that causes the pain in individual. However, a correct intramuscular injection application will reduce the pain due to injection. In the literature, different methods have been applied to reduce the pain associated with intramuscular injections with various studies from the past to the present. The aim of this review is to offer the meth...

  8. Modeling of Compressor Performance Deterioration Due to Erosion

    OpenAIRE

    Hamed, A.; W. Tabakoff; D. Singh

    1998-01-01

    This paper presents the results of a simulation of compressor performance deterioration due to blade erosion. The simulation at both design and off-design conditions is based on a mean line row by row model, which incorporates the effects of blade roughness and tip clearance. The results indicate a pronounced effect of blade erosion on the compressor adiabatic efficiency and a lesser effect on the pressure ratio. The loss in performance is mainly caused by the increased blade surface roughnes...

  9. A model for the degradation of polyimides due to oxidation

    OpenAIRE

    Karra, Satish; K.R. Rajagopal

    2010-01-01

    Polyimides, due to their superior mechanical behavior at high temperatures, are used in a variety of applications that include aerospace, automobile and electronic packaging industries, as matrices for composites, as adhesives etc. In this paper, we extend our previous model in [S. Karra, K. R. Rajagopal, Modeling the non-linear viscoelastic response of high temperature polyimides, Mechanics of Materials, In press, doi:10.1016/j.mechmat.2010.09.006], to include oxidative degradation of these ...

  10. A Case of Localized Hypertrichosis Due to Temporary Henna Tattoo

    OpenAIRE

    Deren Özcan; Deniz Seçkin

    2014-01-01

    Temporary henna tattoos have become very popular among children and teenagers in recent years. However, the use of additives to shorten the application time and darken the color of commercial henna, such as para-phenylenediamine, has led to an increased risk of complications due to those tattoos. The most commonly seen complications are allergic contact dermatitis, hypertrophic scarring, keloid formation, hyperpigmentation, and hypopigmentation. Herein; a 13-year-old girl who developed locali...

  11. Hyperandrogenism due to ovarian tumour mimicking PCOS: a case report

    OpenAIRE

    Padmaja Pidaparthy

    2013-01-01

    Hyperandrogenism is the most common endocrine disorder in reproductive age group. While 82% of the cases are due to PCOS, steroid cell tumours account for less than 1% of cases. These tumours are mostly seen in perimenopausal women and 25-30% of these tumours show malignant potential. Hysterectomy with bilateral salpingo-oophorectomy is the recommended treatment. In a young patient unilateral salpingo-oophorectomy and subsequent follow up can be offered. We present one such rare case of a you...

  12. Pulmonary Edema and Myocarditis Developing Due to Scorpion Stings

    Directory of Open Access Journals (Sweden)

    Sevdegul Karadas

    2015-11-01

    Full Text Available Although most of the scorpion stings are harmless, deadly species of scorpions may cause multiorgan failure, neurotoxicity, cardiotoxicity, and pulmonary edema. The cases should be observed in the emergency department against the possibility of development of systemic effects. Fatal complications, in particular such as pulmonary edema, and myocarditis should be considered. In this study, a case of myocarditis and pulmonary edema was detected on the patient who had applied to the emergency department due to a scorpion sting is presented.

  13. Acute Anterolateral Myocardial Infarction Due to Aluminum Phosphide Poisoning

    OpenAIRE

    Bita Dadpour; Zohre Oghabian

    2013-01-01

    Aluminum phosphide (AlP) is a highly effective rodenticide which is used as a suicide poison. Herein, a 24 year-old man who’d intentionally ingested about 1liter of alcohol and one tablet of AlP is reported. Acute myocardial infarction due to AlP poisoning has been occurred secondary to AIP poisoning. Cardiovascular complications are poor prognostic factors in AlP poisoning

  14. Acute Anterolateral Myocardial Infarction Due to Aluminum Phosphide Poisoning

    Directory of Open Access Journals (Sweden)

    Bita Dadpour

    2013-08-01

    Full Text Available Aluminum phosphide (AlP is a highly effective rodenticide which is used as a suicide poison. Herein, a 24 year-old man who’d intentionally ingested about 1liter of alcohol and one tablet of AlP is reported. Acute myocardial infarction due to AlP poisoning has been occurred secondary to AIP poisoning. Cardiovascular complications are poor prognostic factors in AlP poisoning

  15. Enhancement of parametric pumping due to Andreev reflection

    OpenAIRE

    Wei, Y.; Wang, B.; Guo, H; Wang, J

    2001-01-01

    We report properties of parametric electron pumping in the presence of a superconducting lead. Due to a constructive interference between the direct reflection and the multiple Andreev reflection, the pumped current is greatly enhanced. For both quantum point contacts and double barrier structures at resonance, we obtain exact solutions in the weak pumping regime showing that I = 4I, which should be compared with the result of conductance GNS = 2GN. Numerical results are also provided for the...

  16. Metal Contamination In Plants Due To Tannery Effluent

    OpenAIRE

    Md.Farhad Ali; Umme Habiba Bodrun Naher; Md Mahamudul Hasan; Md. Aminul Islam

    2015-01-01

    Abstract This paper analyzes the determination of heavy metals named Chromium Lead and Cadmium deposited in soil as well as in the plants and vegetables due to the tanning industries of the area of Hazaribagh Dhaka. The tanneries discharge untreated tannery effluents which get mixed with the soil water of rivers and canals in this area. The determination of metals was performed for the soil that was collected from the land adjacent to the canals which bear untreated tannery effluents. The s...

  17. A Salvage Operation for Total Penis Amputation Due to Circumcision

    OpenAIRE

    Bilsev Ince; Ayse Ozlem Gundeslioglu

    2013-01-01

    Circumcision is one of the most common rituals in Jewish and Islamic cultures. It may also be performed for phimosis correction or the treatment of recurrent balanitis. Although circumcision is considered to be a technically easy and safe surgical procedure with no significant risk, it may lead to severe complications such as necrotizing fasciitis or total penis amputation. In this report, we present a case of penis amputation at two levels occurring with third-degree burns due to electrocaut...

  18. Protracted systemic illness and interstitial nephritis due to minocycline.

    OpenAIRE

    Wilkinson, S P; Stewart, W. K.; Spiers, E M; Pears, J.

    1989-01-01

    A severe hypersensitivity-like illness with acute renal failure, lymphadenopathy and skin rash is reported following minocycline treatment in a 16 year old male. Following haemodialysis and steroid therapy his illness remitted, only to recur on withdrawal of the steroids. With further steroid treatment he recovered completely. Lymphocyte function tests, performed in an attempt to positively incriminate minocycline, were inconclusive due to a general suppression of the patient's lymphocytes to...

  19. Neonatal segmental enteritis due to cow′s milk allergy

    OpenAIRE

    Pavai Arunachalam; John Mathai

    2013-01-01

    Cow′s milk protein allergy (CMPA) typically presents with persistent diarrhea or dysentery, vomiting and bleeding per rectum in young infants. CMPA is reported to mimic Hirschsprung′s disease and malrotation. We report, a neonate who presented with recurrent attacks of segmental enteritis due to CMPA and the last episode presented with signs of peritonitis. He improved dramatically after elimination of cow′s milk from his diet. CMPA should be considered in artificially fed babies with surgica...

  20. Neonatal segmental enteritis due to cow's milk allergy

    OpenAIRE

    Arunachalam, Pavai; Mathai, John

    2013-01-01

    Cow's milk protein allergy (CMPA) typically presents with persistent diarrhea or dysentery, vomiting and bleeding per rectum in young infants. CMPA is reported to mimic Hirschsprung's disease and malrotation. We report, a neonate who presented with recurrent attacks of segmental enteritis due to CMPA and the last episode presented with signs of peritonitis. He improved dramatically after elimination of cow's milk from his diet. CMPA should be considered in artificially fed babies with surgica...

  1. Free surface flow due to a submerged source

    OpenAIRE

    Keeler, Holger Paul

    2014-01-01

    In this thesis we consider the free surface flow due to a submerged source in a channel of finite depth. This problem has been considered previously in the literature, with some disagreement about whether or not a train of waves exist on the free surface for Froude numbers less than unity. The physical assumptions behind the accepted model are clearly stated and governing equations and boundary conditions derived. Complex variable theory is then employed to obtain a singular nonlinear integra...

  2. Multiple aneurysms due to intimomedial mucoid degeneration: a short presentation

    Directory of Open Access Journals (Sweden)

    H Gajjar

    2009-11-01

    Full Text Available A 17 year-old female presented with abdominal pain, due to contained rupture of a left common iliac artery aneurysm. This was accompanied by abdominal aortic and superior mesenteric artery aneurysms. Despite emergency vascular surgery, the patient died a week later. Post-mortem examination revealed intimomedial mucoid degeneration. This rare condition has been described predominantly in South African black patients especially females, and occurs at a younger age than degenerative aortic aneurysms.

  3. Multiple aneurysms due to intimomedial mucoid degeneration: a short presentation

    OpenAIRE

    Gajjar, H.; Beningfield, S J; Naidoo, N. G.; Ahmed Motala

    2009-01-01

    A 17 year-old female presented with abdominal pain, due to contained rupture of a left common iliac artery aneurysm. This was accompanied by abdominal aortic and superior mesenteric artery aneurysms. Despite emergency vascular surgery, the patient died a week later. Post-mortem examination revealed intimomedial mucoid degeneration. This rare condition has been described predominantly in South African black patients especially females, and occurs at a younger age than degenerative aortic aneur...

  4. Contamination of Ground Water Due To Landfill Leachate

    OpenAIRE

    M. V. S. Raju

    2012-01-01

    The present site under investigation at Ajitsingh Nagar in Vijayawada of Andhra Pradesh is initially a low lying area and used for disposing the urban solid waste for the last few years, through open dumping with out taking any measures to protect the Ground water against pollution. The present study has been taken up to measure the degree of pollution of ground water due to leachate produced in the landfill site. Bore holes were made at eight random locations ...

  5. Acute Acalculous Cholecystitis due to Viral Hepatitis A

    OpenAIRE

    Safak Kaya; Ahmet Emre Eskazan; Nurettin Ay; Birol Baysal; Mehmet Veysi Bahadir; Arzu Onur; Recai Duymus

    2013-01-01

    Inflammation of the gallbladder without evidence of calculi is known as acute acalculous cholecystitis (AAC). AAC is frequently associated with gangrene, perforation, and empyema. Due to these associated complications, AAC can be associated with high morbidity and mortality. Medical or surgical treatments can be chosen according to the general condition of the patient, underlying disease and agent. Particularly in acute acalculous cholecystitis cases, early diagnosis and early medical treatme...

  6. Concrete cover cracking due to uniform reinforcement corrosion

    DEFF Research Database (Denmark)

    Solgaard, Anders Ole Stubbe; Michel, Alexander; Geiker, Mette Rica;

    2013-01-01

    and reinforcement de-passivation is a frequently used limit state. The present paper investigates an alternative limit state: corrosion-induced cover cracking. Results from numerical simulations of concrete cover cracking due to reinforcement corrosion are presented. The potential additional service...... from the numerical simulations reveal that, depending on the serviceability limit state applied, the service life of a reinforced concrete structure can be increased significantly by allowing minor damage of the cover....

  7. Coomb’s Positive Hemolytic Anemia Due To Insect Bite

    OpenAIRE

    2007-01-01

    Hemolytic anemia has occasionally been described in association with insect bites. The venom of certain spiders, bees and wasps, and some snakes can rarely cause intravascular hemolysis. We report here a case of Coombs positive hemolytic anemia due to an insect bite. These bites often pose diagnostic challenges and when associated with systemic manifestations necessitate early intervention. This communication reviews the clinico- hematologic spectrum in these cases and also emphasizes the nee...

  8. The anomalous Hall conductivity due to the vector spin chirality

    OpenAIRE

    Taguchi, Katsuhisa; Tatara, Gen

    2008-01-01

    We study theoretically the anomalous Hall effect due to the vector spin chirality carried by the local spins in the $s$-$d$ model. We will show that the vector spin chirality indeed induces local Hall effect in the presence of the electron spin polarization, while the global Hall effect vanishes if electron transport is homogeneous. This anomalous Hall effect can be interpreted in terms of the rotational component of the spin current associated with the vector chirality.

  9. Return to work following sickness absence due to infectious mononucleosis

    OpenAIRE

    Koopmans, P. C.; Bakhtali, R.; Katan, A.A.; Groothoff, J. W.; Roelen, C.A.

    2010-01-01

    BACKGROUND: Epstein-Barr virus infectious mononucleosis among adults is notorious because of the prolonged incapacitating fatigue it causes. AIMS: To investigate the duration of sickness absence and return to work following infectious mononucleosis. METHODS: Episodes of sickness absence due to infectious mononucleosis were selected from an occupational health services register. The duration of sickness absence and return to work was assessed with Kaplan-Meier survival analysis. RESULTS: Two t...

  10. Hypokalemic paralysis due to thyrotoxicosis accompanied by Gitelman's syndrome

    OpenAIRE

    Baldane, S.; Ipekci, S. H.; Celik, S; Gundogdu, A.; Kebapcilar, L.

    2015-01-01

    A 35-year-old male patient was admitted with fatigue and muscle weakness. He had been on methimazole due to thyrotoxicosis for 2 weeks. Laboratory tests showed overt hyperthyroidism and hypokalemia. Potassium replacement was started with an initial diagnosis of thyrotoxic hypokalemic periodic paralysis. Later on, despite the euthyroid condition and potassium chloride treatment, hypokalemia persisted. Further investigations revealed hyperreninemic hyperaldosteronism. The patient was considered...

  11. Bending and Deformation of Sandwich Panels Due to Localized Pressure

    OpenAIRE

    Bambang K. Hadi; Fajar, A.

    2005-01-01

    Bending and deformation of sandwich panels due to localized pressure were analyzed using both Rayleigh-Ritz and finite element methods. The faces were made of laminated composite plates, while the core was a honeycomb material. Carbon fiber and glass fiber reinforced plastics were used for composite plate faces. In the case of Rayleigh-Ritz method, first the total energy of the system was calculated and then taking the variations of the total energy, the sandwich panel deflections could be co...

  12. NITROGEN LOSSES DUE TO NITRIFICATION: PLANT BASED REMEDIAL PROSPECTS

    OpenAIRE

    Kavita Arora and Alka Srivastava*

    2013-01-01

    Nitrification of nitrogen fertilizers results into loss of nitrogen nutrient from soil along with environmental hazards, like, global warming, contamination of ground water and so on. To tackle the problem, many synthetic inhibitors of nitrification have been formulated but till now none of them has proved to be attractive option due to their cost and non-ecofriendly nature. A shift towards natural nitrification inhibitors would be beneficial, economically viable and environmentally safer opt...

  13. Land Degradation Due To Mining: The Gunda Scenario

    OpenAIRE

    Rejoice Paul Mbaya

    2013-01-01

    Several studies have been carried out on the effects of mining on the environment, these have been characterized by landscape devastation, deforestation, it has also exposed the land to both wind and water erosion, water pollution and other environmental hazards which poses threat to humans in diverse ways. The study is set out to examine land degradation due to mining in Gunda area of Biu plateau with emphasis on the landscape. Both primary and secondary data were used. The nature of the env...

  14. Severe acute caffeine poisoning due to intradermal injections: Mesotherapy hazard

    OpenAIRE

    Perković-Vukčević Nataša; Babić Gordana; Šegrt Zoran; Vuković-Ercegović Gordana; Janković Snežana; Aćimović Ljubomir

    2012-01-01

    Introduction. Caffeine is indicated in the treatment of migraine headaches, as well as neonatal apnea and bradycardia syndrome. In mild poisoning, the most prevalent symptoms are nausea, vomiting, diarrhea, tremor, anxiety and headache. In more severe cases, symptoms consist of heart rythym abnormalities, myocardial infarction and seizures. Due to its common lipolytic effect, caffeine is used in mesotherapy, usually in combination with drugs of similar effect. We presented a patient wit...

  15. Modelling microbial load reduction in foods due to ozone impact

    OpenAIRE

    Elisabete M. C. Alexandre; Brandão, Teresa R. S.; Cristina L.M. Silva

    2011-01-01

    Ozone is a strong sanitizer that can be applied as a convenient washing-treatment to foods. The main objective was to study the ozone impact on Listeria innocua in red bell peppers, total mesophiles in strawberries and total coliforms in watercress. Modelling microbial load reduction throughout treatment time and due to ozone effect were also targets. The microbiological reductions observed for ozonated samples were higher than the ones obtained for water dipping. However, total coliforms/...

  16. Acute pulmonary alveolar proteinosis due to exposure to cotton dust

    OpenAIRE

    Thind Gurcharan

    2009-01-01

    Secondary pulmonary alveolar proteinosis (PAP) is rare but may occur in association with malignancy, certain infections, and exposure to inorganic or organic dust and some toxic fumes. This case report describes the second recorded case of PAP due to exposure to cotton dust. A 24-year-old man developed PAP after working as a spinner for eight years without respiratory protection. He was admitted as an emergency patient with very severe dyspnea for four months and cough for several years. Ches...

  17. Impact on the magnetic compressor due to CSR

    International Nuclear Information System (INIS)

    When an electron bunch is compressed in a chicane compressor, the CSR (coherent synchrotron radiation) will induce energy redistribution along the bunch. Such energy redistribution will affect the longitudinal emittance as a direct consequence. It will also excite betatron oscillation due to the chromatic transfer functions, and hence a transverse emittance change. So, it is indispensable for us to find a way to alleviate the CSR-caused emittance dilution and the bad result of chicane compressor in PKU-FEL. (authors)

  18. Neurogenic pulmonary edema due to delayed radiation necrosis

    Directory of Open Access Journals (Sweden)

    Mani R

    2005-01-01

    Full Text Available Neurogenic pulmonary edema is oftten missed in the ICU setting as it is mistaken for pneumonia or ARDS. The case presented here illustrates how a high index of suspicion in the appropriate setting can lead to the diagnosis. The patient in this report developed acute-on-chronic cerebral edema due to radiation necrosis following gamma-knife radiation therapy for cerebral arteriovenous malformation.

  19. Alignment of atmospheric mineral dust due to electric field

    OpenAIRE

    Ulanowski, Z.; Bailey, J.; P.W. Lucas; Hough, J. H.; E. Hirst

    2007-01-01

    International audience Optical polarimetry observations on La Palma, Canary Islands, during a Saharan dust episode show dichroic extinction indicating the presence of vertically aligned particles in the atmosphere. Modelling of the extinction together with particle orientation indicates that the alignment could have been due to an electric field of the order of 2 kV/m. Two alternative mechanisms for the origin of the field are examined: the effect of reduced atmospheric conductivity and ch...

  20. Mortality due to injuries in Maputo City, Mozambique

    DEFF Research Database (Denmark)

    Nizamo, Hanifa; Meyrowitsch, Dan Wolf; Zacarias, Eugénio;

    2006-01-01

    Records of all registered deaths due to injuries maintained by the Legal Medicine Department in Maputo City for the period 1 January to 31 December 2000 were reviewed. Among the 1135 registered deaths, road traffic injuries accounted for the most common underlying cause of death (43.7%), followed.......1%) and suicides (4.2%). Prevention of road traffic injuries and improved emergency care and health facility-based treatment is needed to reduce injury-related mortality....

  1. Travel Time Reduction Due to Infrastructure Development in Hungary

    OpenAIRE

    Berta, Tamas; Török, Ádám

    2010-01-01

    The main scope of this paper is to present the formulation and visualization of shortening travel time in road transport due to the improvement of road network in Hungary. The formulation of the travel time based model has been developed by the authors. The paper also presents the demonstration of the results. The approach followed is quite innovatory in terms of visualization. The travel times were taken into account as opposed to geographical distances. Also, graph theory is used in order t...

  2. Meningoencephalitis due to anthrax: CT and MR findings

    Energy Technology Data Exchange (ETDEWEB)

    Yildirim, Hanefi; Koc, Mustafa; Murat, Ayse [Firat University, Department of Radiology, Elazig (Turkey); Kabakus, Nimet; Incekoey Girgin, Feyza [Firat University, Department of Paediatric Neurology, Elazig (Turkey)

    2006-11-15

    Anthrax is primarily a disease of herbivores, but it also causes cutaneous, respiratory and gastrointestinal infections in humans. Bacillus anthracis is an uncommon cause of meningitis and generally produces a haemorrhagic meningoencephalitis. We present the CT and MR findings of anthrax meningoencephalitis due to the cutaneous form of anthrax in a 12-year-old boy. They showed focal intracerebral haemorrhage with leptomeningeal enhancement. (orig.)

  3. Acute Psychotic Symptoms due to Benzydamine Hydrochloride Abuse with Alcohol

    OpenAIRE

    Yahya Ayhan Acar; Mustafa Kalkan; Rıdvan Çetin; Erdem Çevik; Orhan Çınar

    2014-01-01

    Benzydamine hydrochloride is a locally acting nonsteroidal anti-inflammatory drug. Benzydamine hydrochloride overdose can cause stimulation of central nervous system, hallucinations, and psychosis. We presented a young man with psychotic symptoms due to benzydamine hydrochloride abuse. He received a total dose of 1000 mg benzydamine hydrochloride with alcohol for its hallucinative effects. Misuse of benzydamine hydrochloride must be considered in differential diagnosis of first-episode psycho...

  4. Acute Psychotic Symptoms due to Benzydamine Hydrochloride Abuse with Alcohol

    Directory of Open Access Journals (Sweden)

    Yahya Ayhan Acar

    2014-01-01

    Full Text Available Benzydamine hydrochloride is a locally acting nonsteroidal anti-inflammatory drug. Benzydamine hydrochloride overdose can cause stimulation of central nervous system, hallucinations, and psychosis. We presented a young man with psychotic symptoms due to benzydamine hydrochloride abuse. He received a total dose of 1000 mg benzydamine hydrochloride with alcohol for its hallucinative effects. Misuse of benzydamine hydrochloride must be considered in differential diagnosis of first-episode psychosis and physicians should consider possibility of abuse in prescribing.

  5. Somnambulism Due to Temporal Lobe Epilepsy - A Case Report

    Directory of Open Access Journals (Sweden)

    Rajesh S

    2004-01-01

    Full Text Available Somnambulism (sleep walking is a disorder of arousal that falls under the parasomnia group. It is more common in children than in adults. (1. The onset of sleep walking in adult life is most unusual and suggests the presence of secondary causes rather than a primary sleep disorder (1. We report a 30-year-old male who presented with repeated episodes of sleep waling possibly due to nocturnal temporal lobe epilepsy.

  6. Electron as Spatiotemporal Complexity due to Self-Organized Criticality

    OpenAIRE

    Ta-chung, Meng

    2001-01-01

    The electron, which has been pictured as an elementary particle ever since J.J. Thomson's e/m-measurement in 1897, and the relativistic motion of which is described by the Dirac equation, is discussed in the light of the recent progress made in Science of Complex Systems. Theoretical arguments and experimental evidences are presented which show that such an electron exhibits characteristic properties of spatiotemporal complexities due to Self-Organized Criticality (SOC). This implies in parti...

  7. Stress due to Electric and Magnetic fields in Viscoelastic Fluids

    OpenAIRE

    Joshi, Amey

    2013-01-01

    A clear understanding of body force densities due to external electromagnetic fields is necessary to study flow and deformation of materials exposed to the fields. In this paper, we derive an expression for stress in continua with viscous and elastic properties in presence of external, static electric or magnetic fluids. Our derivation follows from fundamental thermodynamic principles. We demonstrate the soundness of our results by showing that they reduce to known expressions for Newtonian f...

  8. Rhabdomyolysis and Acute Kidney Injury due to Severe Heat Stroke

    OpenAIRE

    Carlos Fragachán G.; Máximo H. Trujillo

    2011-01-01

    We present a case of heat stroke (HS) and acute kidney injury (AKI) due to severe rhabdomyolysis in a 14-year-old previously healthy female patient. When she was practicing strenuous exercise she suffered acute seizures and high fever. These symptoms were followed by coma and multiple organ failure (MOF), which included AKI, encephalopathy, fulminant hepatic failure (FHF), and disseminated intravascular coagulation (DIC). The patient was managed in the ICU with renal replacement therapy, vent...

  9. Meningoencephalitis due to anthrax: CT and MR findings

    International Nuclear Information System (INIS)

    Anthrax is primarily a disease of herbivores, but it also causes cutaneous, respiratory and gastrointestinal infections in humans. Bacillus anthracis is an uncommon cause of meningitis and generally produces a haemorrhagic meningoencephalitis. We present the CT and MR findings of anthrax meningoencephalitis due to the cutaneous form of anthrax in a 12-year-old boy. They showed focal intracerebral haemorrhage with leptomeningeal enhancement. (orig.)

  10. Management of infections due to KPC-producing Klebsiella pneumoniae

    OpenAIRE

    Deresinski, Stanley C.; Schirmer, Patricia

    2009-01-01

    The emergence of the Klebsiella pneumoniae carbapenemases in K. pneumoniae and other Gram-negative bacteria, usually on a background of multidrug resistance, has led to difficult therapeutic choices. Among available antibiotics, tigecycline and the polymyxins are the most frequently active against these organisms in vitro. Optimal therapy of infections due to these bacteria may involve maximization of antibiotic dose as well as their use in combination.

  11. Hemifacial spasm due to vertebrobasilar dolichoectasia: a case report

    Directory of Open Access Journals (Sweden)

    Mustafa AbdelHamid, MD

    2015-12-01

    Full Text Available Hemifacial spasm (HFS happens because of vascular compression of the facial nerve at the root exit zone. Vertebrobasilar dolichoectasia (VBD is a very rare cause of HFS. VBD is diagnosed by computed tomography angiography and magnetic resonance imaging. Here, we report a case of 65-year-old female patient with HFS due to VBD. We discuss the complications and the treatment options for the case.

  12. Impacts Due to Internet Addiction among Malaysian University Students

    OpenAIRE

    Azizah Zainudin; Marina Md. Din; Marini Othman

    2013-01-01

    The purpose of this study is to study the impacts due to Internet addiction among Malaysian university students. Research methodology used in this study was by distributing survey questions to 653 university students from five different universities in Malaysia. There were four possible impacts measured in this research study which include Academic Performances, Relationships, Personality and Lifestyle. The finding shows that, Internet addiction cause problems with respondents? academic perfo...

  13. Posterior Shoulder Dislocation Due to an Atypical Trauma Mechanism

    OpenAIRE

    Güzel, Şevket Ergun; Baysal, Özgür; Eceviz, Engin; Elmalı, Nurzat

    2014-01-01

    Objectives: A 32 year old man who was admitted to the emergency department with serious pain and absent movement of the right upper extremity due to passing the ball in a basketball game. He had no shoulder dislocation in his medical history. The right shoulder position was flexion and adduction. The shoulder range of motion was restricted and the neurovascular examination was intact. Posterior shoulder dislocation was diagnosed in radiographs.The aim of the study is pointed out an unusual me...

  14. Stability of vertical films of molten glass due to evaporation

    OpenAIRE

    Pigeonneau, Franck; Kocarkova, Helena; Rouyer, Florence

    2012-01-01

    First, we report observations achieved on a gravitationally-driven film drainage with molten glass pointing out a stabilizing effect when temperature is larger than 1250 C. A model to describe the change of surface tension with the film thickness due to the evaporation of oxide species is proposed. A lubrication model is derived taking into account the gradient of surface tension. The final system of equations describing the mass and the momentum conservations is numerically solved by an impl...

  15. Acute Pancreatitis and Splenic Vein Thrombosis due to Hypertriglyceridemia

    OpenAIRE

    Ercan Gündüz; Recep Dursun; Mustafa İçer; Yılmaz Zengin; Cahfer Güloğlu

    2015-01-01

    Acute pancreatitis (AP) is a condition characterised by the activation of the normally inactive digestive enzymes due to an etiological factor and digestion of the pancreatic tissues, resulting in extensive inflammation and leading to local, regional, and systemic complications in the organism. It may vary from the mild edematous to the hemorrhagic and severely necrotising form. The most common causes are biliary stones and alcohol abuse. In this case study, we would like to present a patient...

  16. Modeling of damage due to shrinkage in autoclaved aerated concrete

    OpenAIRE

    Koudelka, T.; Kruis, J.; Sysala, S.; M. Vokáč

    2015-01-01

    The paper deals with numerical modeling of damage evolution in autoclaved aerated concrete (AAC) due to shrinkage. It represents coupled thermo-hydro-mechanical problem where the temperature and moisture transports are fully coupled. The mechanical problem is partially coupled with transport part because the AAC shrinkage is influenced by moisture evolution. These models were implemented to the SIFEL software package and they were used for numerical simulation of drying wall made from AAC blo...

  17. Treatment of recurrent trigeminal neuralgia due to Teflon granuloma

    OpenAIRE

    Capelle, Hans-Holger; Brandis, Almuth; Tschan, Christoph A.; Krauss, Joachim K.

    2010-01-01

    Recurrent trigeminal neuralgia after microvascular decompression (MVD) may be due to insufficient decompression, dislocation of the implant to pad the neurovascular contact, or the development of granuloma. Here, we report on our experience with Teflon granuloma including its treatment and histopathological examination. In a series of 200 patients with trigeminal neuralgia MVD was performed with Teflon felt according to Jannetta’s technique. In three patients with recurrent facial pain Teflon...

  18. A Rare Case of Mycetoma Due to Curvularia

    Science.gov (United States)

    Shinde, Rupali S; Hanumantha, Sreedevi; Mantur, Basappa G; Parande, Mahantesh V

    2015-01-01

    Mycetoma due to Curvularia is a rare clinical entity. Here, we report a case of 27-year-old female presented with multiple swellings and discharging wounds around left shoulder joint since 12 years. Local examination showed diffuse nodular swellings over left anterior chest wall, posterior chest wall, and axilla. Multiple nodules and discharging sinuses were seen. Fungal culture of the biopsy of the lesion revealed Curvularia species. Patient showed significant clinical improvement with itraconazole therapy. PMID:25949061

  19. Reflection beamshifts of visible light due to graphene

    CERN Document Server

    Hermosa, N

    2015-01-01

    I present theoretical calculations of reflection beamshifts, Goos-H\\"anchen and Imbert-Fedorov shifts, due to the presence of a monolayer graphene on a dielectric media when using a beam with wavelength in the visible range. Specifically, I look at beamshifts for different polarization states (p, s, $45^0$, $\\sigma^+$). The Goos-H\\"anchen shifts I calculated are in good agreement with results of a recent experiment. I will discuss other possible experimental routes to determine beamshifts in graphene.

  20. Bilateral blindness due to pterygium: a case report

    OpenAIRE

    Richard I. Azonobi; Ezenwa Patrick Udoye; Alfred A. Onua

    2015-01-01

    Although known to cause refractive visual disturbances at some stages, pterygium rarely leads to blindness especially where eye care services are available. This case report presents a 56 year old farmer with advanced pterygia. She reported to the eye clinic after several years of unsuccessful self-medication and refusal to accept an earlier offer of surgical treatment due to fear of surgery. The patient subsequently had surgical excision of both pterygia with visual restoration. The importan...