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1.
Sci Eng Ethics ; 30(3): 19, 2024 May 15.
Article in English | MEDLINE | ID: mdl-38748085

ABSTRACT

This study investigated people's ethical concerns of surveillance technology. By adopting the spectrum of technological utopian and dystopian narratives, how people perceive a society constructed through the compulsory use of surveillance technology was explored. This study empirically examined the anonymous online expression of attitudes toward the society-wide, compulsory adoption of a contact tracing app that affected almost every aspect of all people's everyday lives at a societal level. By applying the structural topic modeling approach to analyze comments on four Hong Kong anonymous discussion forums, topics concerning the technological utopian, dystopian, and pragmatic views on the surveillance app were discovered. The findings showed that people with a technological utopian view on this app believed that the implementation of compulsory app use can facilitate social good and maintain social order. In contrast, individuals who had a technological dystopian view expressed privacy concerns and distrust of this surveillance technology. Techno-pragmatists took a balanced approach and evaluated its implementation practically.


Subject(s)
Attitude , Mobile Applications , Privacy , Humans , Hong Kong , Contact Tracing/ethics , Contact Tracing/methods , Trust , Confidentiality , Technology/ethics , Internet , Female , Male , Adult , Narration
2.
Futures ; 142: 103013, 2022 Sep.
Article in English | MEDLINE | ID: mdl-36061420

ABSTRACT

In the wake of the Covid-19 pandemic, the future of tourism is a much-debated topic both in academic and non-academic circles with commentators expounding contrasting perspectives. This conceptual paper contributes to such debates and aims at envisioning plausible futures of cultural tourism, in particular. For that purpose, we first discuss cultural tourism trends and the future scenarios available in the literature. Then, we articulate three cultural tourism visions of the decades to come: a utopian, a dystopian and a heterotopian vision. Finally, we conclude that the heterotopian vision provides the most nuanced interpretation of the future of cultural tourism and we discuss the potential ramifications of such a vision.

4.
Arch Soc Esp Oftalmol (Engl Ed) ; 97(2): 81-88, 2022 Feb.
Article in English | MEDLINE | ID: mdl-35152953

ABSTRACT

BACKGROUND AND OBJECTIVE: Orbital metastases are an uncommon condition. They may be the clinical presentation of a previously unknown malignancy. Depending on the series, the rate of orbital metastasis as a first manifestation of a malignant tumour is 20%-42%. The clinical presentation and survival is presented in a series of 11 cases of orbital metastasis corresponding to 10 patients. MATERIAL AND METHODS: Descriptive retrospective study of a series of 10 adult patients diagnosed with orbital metastasis from solid tumours during a 9-year period. Metastasis involving the orbit was included, and lymphomas and contiguity invasions from adjacent structures were excluded. A note was made on whether the clinical picture was the first sign of tumour onset. Signs and symptoms at clinical debut were registered, as were primary tumour location, distance seeding, orbital structures involved, and survival time since the diagnosis was established. RESULTS: One-half (50%) of the patients were women. Mean age at diagnosis was 60.9 years (range 42-82). In nine cases (90%), the metastasis was unilateral, while in the remaining one the involvement was bilateral. The most frequent primary tumour location was the breast (36% of the cases); followed by the bladder (27%), lung (18%), and ovary and cavum (9%). Seventy percent of the patients had a previously diagnosed neoplasm; in 3 cases the metastasis was the first malignancy manifestation. Most frequent symptoms were diplopia (60%), visual impairment (40%), and pain (30%). The most common signs were resistance to ocular retropulsion (60%), presence of a mass on orbital palpation, and ocular dystopia (50%), and bulbar hyperaemia and proptosis (40%). The most employed management modality was clinical observation (5 patients). In 3 patients radiotherapy was administered, combining chemotherapy plus hormonal therapy in one case, and orbital exenteration in another one. In 2 cases, chemotherapy was administered as an isolated regime. Median survival time was 4.8 months since the diagnosis. There was a statistically significant difference between the survival time in the observation group (median 2.5 months) and in the active treatment group (median 29.2 months), p=.034. CONCLUSIONS: In the series presented, 27% of the cases established the clinical debut of the malignant neoplasm. The ophthalmologist plays an essential role when this condition is suspected, diagnosing it, and proposing its management together with the Oncology Service.


Subject(s)
Exophthalmos , Orbital Neoplasms , Adult , Aged , Aged, 80 and over , Female , Humans , Middle Aged , Orbit , Orbit Evisceration , Orbital Neoplasms/surgery , Retrospective Studies
5.
Arch. Soc. Esp. Oftalmol ; 97(2): 81-88, feb.,2022. tab, ilus, graf
Article in Spanish | IBECS | ID: ibc-202740

ABSTRACT

Antecedentes y objetivoLas metástasis orbitarias son una entidad infrecuente y pueden suponer la presentación de un tumor maligno desconocido previamente; según las series, el porcentaje de metástasis orbitarias como primera manifestación de una enfermedad maligna es del 20-42%. Describimos la presentación clínica y la supervivencia en una serie de 11 casos de metástasis orbitarias correspondientes a 10 pacientes.Material y métodosEstudio descriptivo retrospectivo de una serie de 10 pacientes adultos diagnosticados de metástasis orbitarias de tumores sólidos durante un periodo de 9años. Se incluyeron metástasis que afectasen a la órbita, excluyendo linfomas e invasiones por contigüidad. Se especificó si la clínica fue la primera manifestación del tumor. Se registraron los síntomas y signos en el debut clínico, la localización del tumor primario, si existía extensión a distancia, las estructuras orbitarias afectas y el tiempo de supervivencia desde el diagnóstico.ResultadosLa mitad de los pacientes fueron mujeres. La edad media al diagnóstico fue de 60,9años (rango 42-82). En 9casos (90%) la metástasis fue unilateral, mientras que en el restante la afectación fue bilateral. La localización más frecuente del tumor primario fue la mama (36% de los casos), seguida por la vejiga (27%), el pulmón (18%), el ovario y el cavum (9%). El 70% de los pacientes tenían enfermedad neoplásica diagnosticada previamente; en 3casos la metástasis fue la primera manifestación del tumor.


Background and objectiveOrbital metastases are an uncommon condition. They may be the clinical presentation of a previously unknown malignancy. Depending on the series, the rate of orbital metastasis as a first manifestation of a malignant tumour is 20-42%. The clinical presentation and survival are presented in a series of 11 cases of orbital metastasis corresponding to 10 patients.Material and methodsDescriptive retrospective study of a series of 10 adult patients diagnosed with orbital metastasis from solid tumours during a 9-year period. Metastases involving the orbit were included, and lymphomas and contiguity invasions from adjacent structures were excluded. A note was made on whether the clinical picture was the first sign of tumour onset. Signs and symptoms at clinical debut were registered, as were primary tumour location, distance seeding, orbital structures involved, and survival time since the diagnosis was established.ResultsOne-half (50%) of the patients were women. Mean age at diagnosis was 60.9years (range 42-82). In nine cases (90%), the metastasis was unilateral, while in the remaining one the involvement was bilateral. The most frequent primary tumour location was the breast (36% of the cases), followed by the bladder (27%), lung (18%), and ovary and cavum (9%). Seventy percent of the patients had a previously diagnosed neoplasm; in 3 cases the metastasis was the first malignancy manifestation. Most frequent symptoms were diplopia (60%), visual impairment (40%), and pain (30%).


Subject(s)
Humans , Male , Female , Middle Aged , Health Sciences , Ophthalmology , Neoplasm Metastasis , Orbital Diseases
7.
J Fr Ophtalmol ; 44(8): 1249-1255, 2021 Oct.
Article in English | MEDLINE | ID: mdl-34353662

ABSTRACT

PURPOSE: The goal of this article is to present an infrequent clinical case and to review the available literatura, with an emphasis on ophthalmological symptoms. METHODS: We present the case of a 4-year-old girl with a large dentigerous cyst on the maxillary bone, who had long-standing unilateral epiphora associated with progressive ocular dystopia, facial asymmetry and ipsilateral amblyopia. A multidisciplinary approach was taken by the maxillofacial surgery, ophthalmology and optometry teams. This included systemic antibiotic administration, surgical cyst drainage and amblyopia treatment. The literature review was carried out in the MEDLINE database through the free electronic access to PubMed in March 2020. RESULTS: At the 6-month follow-up, the patient was asymptomatic. The most common symptoms of dentigerous cysts are epiphora 36.8%, ocular dystopia 31.2%, diplopia 21.1%, proptosis, nasolacrimal duct obstruction and blurred vision at 10.5%. Amblyopia has not been reported. CONCLUSIONS: Dentigerous cysts are benign odontogenic cysts, which can be found in the jaw and less frequently on the maxillary bone. They are usually asymptomatic, and the occurrence of ophthalmic complications is very infrequent. Multidisciplinary management is essential to avoiding long-term morbidity of maxillary dentigerous cysts and should include an ophthalmologist.


Subject(s)
Amblyopia , Dentigerous Cyst , Lacrimal Duct Obstruction , Maxillary Diseases , Nasolacrimal Duct , Amblyopia/complications , Amblyopia/diagnosis , Child, Preschool , Dentigerous Cyst/complications , Dentigerous Cyst/diagnosis , Female , Humans
8.
Folia Med (Plovdiv) ; 63(5): 815-818, 2021 Oct 31.
Article in English | MEDLINE | ID: mdl-35851218

ABSTRACT

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder affecting female reproductive system (agenesis of uterus and upper part of vagina) alone (type 1), or associated with abnormalities of other organs and systems (type 2). We report a case of a 21-year-old woman diagnosed with MRKH due to primary amenorrhea during puberty and operated for formation of neovagina. She was admitted to the Department of Urology with abdominal pain and oligoanuria, where the physical examination and imaging studies revealed a malformation of the upper urinary tract: a solitary dystopia of kidney in the pelvis with stenosis of ureteropelvic junction and hydronephrosis. After initial desobstruction with a DJ stent, a pyeloplasty was performed. Females with primary amenorrhea are often delayed with the diagnosis of potential MRKH syndrome, and those diagnosed with the syndrome should undergo detailed examination to exclude concomitant urinary abnormalities.


Subject(s)
46, XX Disorders of Sex Development , Congenital Abnormalities , 46, XX Disorders of Sex Development/complications , 46, XX Disorders of Sex Development/diagnosis , 46, XX Disorders of Sex Development/surgery , Adult , Amenorrhea/diagnosis , Amenorrhea/etiology , Congenital Abnormalities/diagnosis , Congenital Abnormalities/surgery , Female , Humans , Kidney/abnormalities , Kidney/diagnostic imaging , Mullerian Ducts/abnormalities , Mullerian Ducts/surgery , Urogenital Abnormalities , Young Adult
9.
Oral Maxillofac Surg ; 25(2): 215-222, 2021 Jun.
Article in English | MEDLINE | ID: mdl-32910362

ABSTRACT

PURPOSE: To estimate the clinical and functional results of patients who underwent distinctive types of open reduction and internal fixation of ZMC fractures, with particular emphasis on malar height and vertical dystopia. MATERIALS AND METHODS: A randomized clinical trial was conducted from August 2016 to October 2019 in which 40 adult patients with ZMC fractures of maxillofacial region were included. Patients were randomly allocated to group A (n = 20; frontozygomatic (F-Z) first 3-point reduction and fixation) or group B (n = 20; group B infra-orbital first 3-point reduction and fixation). All patients were evaluated objectively for malar height and vertical dystopia pre- and post-operatively at 3 months. The data were scrutinized by applying mean and standard deviation and unpaired t test. RESULTS: Mean values of the malar height and vertical dystopia were statistically significant (P < .05) for group B compared with group A at all intervals. Data analyzed for other secondary variables showed a statistically non-significant difference between the groups (P > 0.05). CONCLUSION: The results showed improvement in the malar height and vertical dystopia for infra-orbital first three-point fixation (group B) compared with F-Z first approach for initial reduction and fixation (group A). Furthermore, group B was better in terms of malar width and antero-posterior projection of the zygomaticomaxillary complex.


Subject(s)
Maxillary Fractures , Zygomatic Fractures , Adult , Fracture Fixation, Internal , Humans , Open Fracture Reduction , Zygoma
10.
Rev. bras. psicanál ; 54(4): 141-147, out.-dez. 2020. ilus
Article in Portuguese | LILACS-Express | LILACS, Index Psychology - journals | ID: biblio-1288951

ABSTRACT

RESUMO A proposta de reflexão sobre uma ética psicanalítica para o século XXI surge em um mundo convulsionado por excessiva agressividade entre humanos a partir das suas diferenças, assim como contra o meio ambiente, situações que ficaram agravadas na pandemia. Como é possível estabelecer similaridades com cenários distópicos de obras de ficção científica, comparam-se enredos e personagens ali encontrados com o momento atual. Obras sobre distopias costumam representar as angústias humanas mais primitivas deslocadas para o futuro. Destaca-se outro tipo de enredo, em que os aspectos colaborativos e integradores são utilizados para superar adversidades catastróficas grupais. Para argumentar sobre as diferenças de cenário, mostra-se que há uma característica genotípica humana apontada por Freud como da horda primitiva que se contrapõe ao fenotípico que foi se incorporando através do processo civilizatório em contínuo aperfeiçoamento. Ressalta-se o aspecto dinâmico apontado na relação genótipo-fenótipo conforme se apresenta no enquadre psicanalítico e de que forma se constitui como a nossa ética para lidar com as diferenças.


ABSTRACT The proposal to reflect on a psychoanalytical ethics for the 21st century arises in a world convulsed by excessive aggressiveness among humans due to their differences, as well as against the environment, situations that were aggravated during the pandemic. As it is possible to establish similarities with dystopian scenarios found in science fiction works, comparisons are made between plots and characters found there with the current moment. Works on dystopia usually represent the most primitive human anxieties happening in the future. Another type of plot stands out, in which the collaborative and integrating aspects are used to overcome catastrophic group adversities. A comparison is made between a human genotypic characteristic pointed out by Freud as that of the primitive horde in opposition to the phenotypic which was incorporated through the civilization process and the need for its continuous improvement. An emphasis is made on the role of the psychoanalytical framework to work with these oscillating human characteristics and how they can constitute our ethics to deal with differences.


RESUMEN La propuesta acerca de reflexionar sobre una ética psicoanalítica para el siglo XXI surge en un mundo convulsionado por la excesiva agresividad de los humanos ante sus diferencias, así como ante el medio ambiente, situaciones que se agravaron en la pandemia. Como es posible establecer similitudes con los escenarios distópicos encontrados en las obras de ciencia ficción, se hacen comparaciones entre las tramas y los personajes encontrados allí con el momento actual. Los trabajos sobre distopías suelen representar las ansiedades humanas más primitivas trasladadas a un futuro. Destaca otro tipo de trama en la que se utilizan los aspectos colaborativos e integradores para superar las adversidades catastróficas del grupo. Se hace una comparación entre una característica genotípica humana señalada por Freud como la de la horda primitiva en oposición a la fenotípica que se incorporó a través del proceso civilizatorio y la necesidad de su mejora continua. Se hace hincapié en el papel del marco psicoanalítico para trabajar con estas características humanas oscilantes y en cómo pueden constituir nuestra ética para tratar las diferencias.


RÉSUMÉ La proposition de réfléchir sur une éthique psychanalytique pour le XXIe siècle apparaît dans un monde convulsionné par une agressivité excessive entre les humains à partir de leurs différences, aussi bien que contre l'environnement, des situations qui se sont aggravées pendant la pandémie. Comme il est possible d'établir des similitudes avec les sénaires dystopiques que l'on trouve dans les œuvres de science-fiction : on fait des comparaisons entre les intrigues et les personnages que l'on y retrouve et le moment présent. Les œuvres à propos des dystopies représentent généralement les angoisses humaines les plus primitives déplacées vers un avenir. On distingue un autre type d'intrigue où les aspects collaboratifs et d'intégration sont utilisés pour surmonter les adversités catastrophiques des groupes. On fait une comparaison entre une caractéristique génotypique humaine signalée par Freud comme celle de la horde primitive en opposition au phénotypique qui s'est incorporée par le moyen du processus civilisateur et la nécessité de son amélioration continue. On souligne le rôle du cadre psychanalytique pour travailler avec ces caractéristiques humaines oscillantes et comment elles peuvent devenir notre éthique pour traiter les différences.

11.
Article in English, Spanish | MEDLINE | ID: mdl-32873479

ABSTRACT

BACKGROUND AND OBJECTIVE: Orbital metastases are an uncommon condition. They may be the clinical presentation of a previously unknown malignancy. Depending on the series, the rate of orbital metastasis as a first manifestation of a malignant tumour is 20-42%. The clinical presentation and survival are presented in a series of 11 cases of orbital metastasis corresponding to 10 patients. MATERIAL AND METHODS: Descriptive retrospective study of a series of 10 adult patients diagnosed with orbital metastasis from solid tumours during a 9-year period. Metastases involving the orbit were included, and lymphomas and contiguity invasions from adjacent structures were excluded. A note was made on whether the clinical picture was the first sign of tumour onset. Signs and symptoms at clinical debut were registered, as were primary tumour location, distance seeding, orbital structures involved, and survival time since the diagnosis was established. RESULTS: One-half (50%) of the patients were women. Mean age at diagnosis was 60.9years (range 42-82). In nine cases (90%), the metastasis was unilateral, while in the remaining one the involvement was bilateral. The most frequent primary tumour location was the breast (36% of the cases), followed by the bladder (27%), lung (18%), and ovary and cavum (9%). Seventy percent of the patients had a previously diagnosed neoplasm; in 3 cases the metastasis was the first malignancy manifestation. Most frequent symptoms were diplopia (60%), visual impairment (40%), and pain (30%). The most common signs were resistance to ocular retropulsion (60%), presence of a mass on orbital palpation and ocular dystopia (50%), and bulbar hyperaemia and proptosis (40%). The most employed management modality was clinical observation (5 patients). In 3 patients radiotherapy was administered, combining chemotherapy plus hormonal therapy in one case, and orbital exenteration in another one. In 2 cases, chemotherapy was administered as an isolated regime. Median survival time was 4.8months since the diagnosis. There was a statistically significant difference between the survival time in the observation group (median 2.5months) and in the active treatment group (median 29.2months), P=.034. CONCLUSIONS: In the series presented, 27% of the cases established the clinical debut of the malignant neoplasm. The ophthalmologist plays an essential role when this condition is suspected, diagnosing it, and proposing its management together with the Oncology Service.

13.
Fractal rev. psicol ; 31(spe): 263-268, set.-dez. 2019.
Article in Portuguese | LILACS, Index Psychology - journals | ID: biblio-1056231

ABSTRACT

Neste artigo tomamos os conceitos de ideologia e utopia a partir de Paul Ricoeur, de distopia a partir de François Ost e apresentamos o conceito de entopia, a fim de resgatar uma dimensão de factibilidade, ausente nos dois primeiros e distorcida no terceiro, presente em uma nova forma de compreender a relação natureza-cultura. Para tanto, dentro de um contexto de abertura cognitiva para o mundo empírico, usamos como base um caso paradigmático cuja interpretação contemplou tais conceitos e alguns de seus usos. Trata-se da trajetória da família de Leonel Siqueira da Silva que, ao longo de vinte e cinco anos, reivindicou o direito de permanecer no Morro das Andorinhas, região oceânica da cidade de Niterói/RJ. O acompanhamento das controvérsias conduziu a construção do conceito de entopia, que convida a nos reencantarmos com o mundo, tornar lugares habitáveis permanentemente, acoplar, harmonizar as representações locais, as formas culturais vividas, com novos regramentos do tempo, do espaço e do direito.(AU)


In this article we take the concepts of ideology and utopia from Paul Ricoeur, of dystopia from François Ost and offer the concept of understanding the relationship between nature and culture. We will describe, from a cognitive openness to the empirical world, a paradigmatic case whose interpretation contemplated such concepts and some of their uses. That's the saga of Leonel Siqueira da Silva's family who, for twenty-five years, claims the right to remain in the Morro das Andorinhas, oceanic region of the city of Niterói / RJ. The follow up of the controversies led the construction of the concept of entopia, which invites us to rekindle with the world, to make places permanently habitable, to couple, to harmonize local representations, to live cultural forms with new rules of time, space and law "atopia" in order to recover the dimension of feasibility, absent in the two first and distorted in the third, in a new way of.(AU)


Subject(s)
Humans , Utopias , Family , Residence Characteristics , Public Power , Environment
14.
Article in English | MEDLINE | ID: mdl-31752119

ABSTRACT

The influence of the alcohol industry, also known as "corporate political activity" (CPA), is documented as one of the main barriers in implementing effective alcohol control policies. In Portugal, despite an alcohol consumption above the European average, alcohol control does not feature in the current National Health Plan. The present research aimed to identify and describe the CPA of the alcohol industry in Portugal. Publicly-available data published between January 2018 and April 2019 was extracted from the main websites and social media accounts of alcohol industry trade associations, charities funded by the industry, government, and media. A "Policy Dystopia" framework, used to describe the CPA strategies of the tobacco industry, was adapted and used to perform a qualitative thematic analysis. Both instrumental and discursive strategies were found. The industry works in partnership with health authorities, belonging to the national task force responsible for planning alcohol control policies. Additionally, it emphasizes the role alcohol plays in Portuguese culture as a way to disregard evidence on control policies from other countries. This paper presents the first description of CPA by the alcohol industry in Portugal and provides evidence for the adoption of stricter control policies in the country.


Subject(s)
Alcohol Drinking/legislation & jurisprudence , Food Industry/legislation & jurisprudence , Health Policy/legislation & jurisprudence , Politics , Public Policy/legislation & jurisprudence , Portugal
15.
Rev. cuba. oftalmol ; 32(3): e719, jul.-set. 2019. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1099090

ABSTRACT

RESUMEN El síndrome de Waardenburg es una enfermedad genética, con criterios diagnósticos como la distopia cantorum, las anomalías pigmentarias del iris, el hipertelorismo y la conjunción de las cejas. Se presentan dos casos de una misma familia quienes asistieron a la consulta de Oftalmología con manifestaciones compatibles con el síndrome de Waardenburg. Paciente de 12 años con asociación típica que inclu ye conjunción de las cejas, alteraciones en la pigmentación del iris (iris azul zafiro) y distopia cantorum, a los que se le une el antecedente de hipoacusia. Su madre, paciente de 37 años de edad, quien presenta la asociación típica, inclu ye alteraciones en la pigmentación del cabello (mechón de canas) y del iris (iris azul zafiro), distopia cantorum y antecedente de hipoacusia. El propósito de este estudio fue dar a conocer dos casos de la misma familia con una entidad infrecuente en la especialidad. No obstante, se pueden encontrar manifestaciones oftalmológicas que son compatibles con su diagnóstico, por lo que es elemental dirigir nuestra acción hacia una aten ción en forma interdisciplinaria y una remisión oportuna(AU)


ABSTRACT Waardenburg syndrome is a genetic disorder with diagnostic criteria such as dystopia canthorum, iris pigmentary abnormalities, hypertelorism and synophrys. A case is presented of two members of the same family who attend the ophthalmology service for manifestations compatible with Waardenburg syndrome. The two patients are a 12-year-old girl with a typical association, which includes synophrys, iris pigmentary alterations (brilliant blue iris) and dystopia canthorum, as well as a history of hypoacusis, and her 37-year-old mother, who presents the typical association, which includes alterations in the pigmentation of her hair (a forelock of white hair) and iris (brilliant blue iris), dystopia canthorum and a history of hypoacusis. The purpose of the study is to present two cases from the same family with a condition which is infrequent in the specialty. However, ophthalmological manifestations may be found which are compatible with its diagnosis, which should obviously enough lead to actions aimed at interdisciplinary care and timely referral(AU)


Subject(s)
Humans , Female , Child , Adult , Waardenburg Syndrome/diagnosis , Waardenburg Syndrome/epidemiology , Iris/abnormalities
16.
Gene ; 704: 86-90, 2019 Jul 01.
Article in English | MEDLINE | ID: mdl-30978479

ABSTRACT

The purpose of this study is to profile the clinical and genetic features of Japanese Waardenburg syndrome (WS) patients and validate the W index. Sixteen Japanese WS families with congenital sensorineural hearing loss were included in the study. The inner canthal, interpupillary, and outer canthal distances (ICD, IPD, and OCD) were measured for all patients, and patients were screened for presence of PAX3, MITF, SOX10, and EDNRB mutations. The WS patients were clinically classified under the current W index as follows: 13 families with WS1, 2 families with WS2, and 1 family with WS4. In the 13 WS1 families, genetic tests found PAX3 mutations in 5 families, MITF mutations in 4 families, SOX10 mutations in 3 families, and EDNRB mutations in 1 family. 61% of clinically classified WS1 patients under the current W index conflicted with the genetic classification, which implies W index is not appropriate for Japanese population. Resetting the threshold of W index or novel index formulated with ethnicity matched samples is necessary for clinical classification which is consistent with genetic classification for WS patients with distinct ethnicity.


Subject(s)
Asian People/genetics , Waardenburg Syndrome/diagnosis , Waardenburg Syndrome/genetics , Adult , Child , Codon, Nonsense , DNA Mutational Analysis , Family , Female , Frameshift Mutation , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , Genetic Testing , Humans , Japan , Male , Microphthalmia-Associated Transcription Factor/genetics , PAX3 Transcription Factor/genetics , Pedigree , Receptor, Endothelin B/genetics , SOXE Transcription Factors/genetics , Waardenburg Syndrome/ethnology
17.
Stomatologiia (Mosk) ; 98(6): 121-123, 2019.
Article in Russian | MEDLINE | ID: mdl-31922523

ABSTRACT

The operation of complex tooth extraction in patients with hemorrhagic syndrome is a difficult task. The authors developed a method of complex tooth extraction in their retention in patients with hemorrhagic syndrome. The study found that the proposed method allowed to reduce the risk of hemorrhagic complications and optimize the healing of post-extraction wounds. The procedure was carried-out in 11 patients with teeth retention and impaired eruption. The paper presents advantages and restrictions of the method.


Subject(s)
Tooth, Impacted , Humans , Syndrome , Tooth Eruption , Tooth Extraction , Wound Healing
18.
J Otol ; 13(3): 105-110, 2018 Sep.
Article in English | MEDLINE | ID: mdl-30559775

ABSTRACT

Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg Shah Syndrome is a very rare congenital disorder with astounding variable clinical expression, characterized by pigmentary abnormalities of the hair (A white forelock of hair, premature graying) and pigmentary changes of the iris such as heterochromia or homochromia irides, sensorineural deafness and Hirschsprung disease. Three genes have been bestowed so far in consociation with EDNRB, EDN3, and SOX10 genes. The pattern of inheritance is multifarious with the SOX10 mutation affiliation with autosomal dominant inheritance whereas the EDNRB and EDN3 genes are passed down in an autosomally recessive pattern.

19.
Med J Armed Forces India ; 74(4): 380-382, 2018 Oct.
Article in English | MEDLINE | ID: mdl-30449927
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