Mobius Sequence in a Girl and Arthrogryposis in her Half-Brother: Distinct Phenotypes Caused By Prenatal Injuries

Mobius sequence is a congenital facial and abducens nerve palsy, frequently associated to abnormalities of extremities. Arthrogryposis multiplex congenital is defined as a congenital fixation of multiple joints seldom of neurogenic origin. Both sequences must have a genetic origin, but usually are sporadic cases related to environmental factors such as drugs exposition and maternal trauma. A 5-year-old girl and a 1-year-old boy were born with Mobius sequence and arthrogryposis multiplex congenital, respectively. During pregnancies, the mother had vaginal bleeding at 7 weeks and used crack (free-based cocaine) in the first trimester, respectively. The girl also has equinovarus talipes and autistic behavior. The boy has arthrogryposis with flexion contractures of the feet and knees. A vascular disruption, due to hemorrhage and cocaine exposure, causing a transient ischemic insult to embryos in a critical period of development may be responsible for distinct phenotypes in these cases.

Möjligheten till att utveckla en generiskt användbar applikation för e-guider - The possibility to develop a generic useful application for e-guides

En e-guide är ett fenomen som kan ge mervärde för besökaren. Det innebär en övergång ifrån en mänsklig guide till en digitaliserad. Det har tidigare skapats e-guider som inte har haft de tekniska aspekterna som krävs för att kunna framföra informationen till besökaren på det sätt utvecklarna och andra inblandade har önskat. Vi har undersökt och utvärderat en av dessa eguiderför att skapa en prototyp för en e-guide över Elsborg, som är en del av Världsarvet Falun. Prototypen utgår ifrån smartphones och operativsystemet Android. Utifrån tidigare och nutida eguider och prototypen, har vi analyserat resultaten och därigenom undersökt möjligheten för att skapa en generisk arkitektur, i form av en applikation för en e-guide som ska kunna appliceras på olika sammanhang oberoende av dess innehåll. Våra efterforskningar har dock visat att det ärsvårt att skapa en så pass generaliserad mall att den direkt går att implementera utan vissa justeringar.

Guides of the Falu Mine : Perceptions of Differences and Similarities onDomestic and International Visitors

Industrial heritage tourism has been in focus for many academic studies and tourism is an alternative developmental tool for mines and contributes to their economic success. This thesis is about the Falu Mine in Dalarna, Sweden, which has World Heritage status since 2001 and is one of the biggest attractions in the region. Its history and cultural importance are reasons for the importance of preserving the heritage. The Falu Mine is under the management of the Great Copper Mountain Trust and one of their ambitions is to ensure the continuous popularity among domestic and international visitors. In order to gain a better understanding of the visitors and to find strategies to improve performance, a visitor survey has been conducted in the summer of 2011. It is the authors believe that the guides of the Falu Mine have the best available insight and that their perceptions help to add to the understanding about the visitors. Therefore, this thesis aims to explore the perceptions of the guides about their visitors, to investigate how the perceptions correspond to the statistical results and to study if there are any differences between domestic and international visitors. The mixed methods approach will increase the depth and accuracy of the results, by linking qualitative with quantitative data. The results show that differences between domestic and international visitors exist, both proven by interviews with the guides and the visitor survey. These differences occur in the factors, such as level of education of the visitors, group size and number of children in the group, knowledge of the visitors prior to and after the visit, sources of information and the fulfillment of the visitor expectations. The perceptions emphasize how these differences impact the guided tours. The guides of the Falu Mine have to be aware of those differences in order to adjust the tour accordingly, as well as the management of the Falu Mine can use this knowledge in order to identify strategies for improving performance.

Paracoccidioidomycosis: an unusual presentation in a young girl disclosing an unnoted HIV-infection

The association of paracoccidioidomycosis with AIDS is apparently less frequent than expected. The authors present an unusual case of paracoccidioidomycosis in a 13-year-old female student which was later found to be the first opportunistic infection in the course of the patient's HIV-infection. The clinical presentation followed an accidental incised wound on the palmar region initially described as a 'sporotrichotic-chancre'. After good response under sulfamethoxazole-trimethoprin, the patient relapsed and presented an associated oral candidiasis. HIV-infection was documented and additional investigation showed CD4(+) T-cells=22/mm(3), CD8(+)=280 cell/mm(3) and viral load=4,043 log. This case report presents an uncommon dermatological-clinical picture in the youngest patient in which such association has been reported to date.

X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome

We describe a case of X monosomy associated with a maternally inherited t(13;14) Robertsonian translocation in a girl with Turner syndrome. The girl's X chromosome was demonstrated to be maternally inherited, ruling out the hypothesis that the translocation exerted an interchromosomal effect on the origin of the monosomy. Chromosomes 13 and 14 showed biparental inheritance.

MICHELS SYNDROME IN A BRAZILIAN GIRL BORN TO CONSANGUINEOUS PARENTS

We report on a Brazilian girl born to consanguineous parents and presenting with craniosynostosis, telecanthus, blepharophimosis, blepharoptosis, epicanthus inversus, cleft lip and palate, skeletal defects, and hearing loss. This combination of anomalies appears to constitute the Michels syndrome. (C) 1995 Wiley-Liss, Inc.

Assessment of effective doses from radon levels for tour guides at several galleries of Santana Cave, Southern Brazil, with CR-39 detectors: preliminary results

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Incontinentia pigmenti presenting as hypodontia in a 3-year-old girl: A case report

Introduction. Incontinentia pigmenti or Bloch-Sulzberger syndrome is a rare X-linked dominant disease that mainly affects the skin, eyes, hair, central nervous system and teeth. The disease is predominant among women. Although dermatologic manifestations are among the most important aspects for the diagnosis of the syndrome, they are less damaging to the patient and do not require treatment. However, oral involvement characterized by hypodontia of deciduous and permanent teeth is important for the diagnosis and treatment of the patient. Case presentation. We report the case of a 3-year-old girl with ophthalmologic and neurologic disturbances, cutaneous manifestations and hypodontia. Since the patient did not present more damaging manifestations such as neurologic and/or ophthalmologic problems, her most severe complications were related to dental anomalies. The importance of integrated dental treatment, which combines pediatric dentistry, orthodontics and conventional prosthesis, is emphasized. Conclusion. Hypodontia is a frequent finding in incontinentia pigmenti, and dentists should be aware of this condition in order to help with the diagnosis. © 2009 Kitakawa et al; licensee BioMed Central Ltd.

Recreational anglers and fishing guides from an estuarine protected area in southeastern Brazil: Socioeconomic characteristics and views on fisheries management

The Iguape and Cananéia Lagoon-Estuarine Complex is a biodiversity hotspot in southeastern Brazil. In recent decades, the region has become an important destination for recreational fishing. The objective of this study was to analyze the socioeconomic characteristics of visiting anglers and fishing guides working in the Cananéia-Iguape-Peruíbe Environmental Protected Area and their views on fisheries management. Data were collected through semi-structured interviews conducted between January 2009 and January 2010. We interviewed 278 anglers, who were predominantly male (93%) with a mean age of 47 years and from the state of São Paulo. The targeted species were snooks (Centropomus undecimales and Centropomus parallelus) and weakfishes (Cynoscion leiarchus and Cynoscion acoupa). Only half the anglers had the mandatory fishing license, and many of them lacked knowledge about catch quotas and minimum size requirements for specific species. The fishing guides (n = 80) were all male, with a mean age of 39 years and extensive experience. Most of the guides believe that the study area is somewhat degraded due to the removal of riparian vegetation, siltation, pollution, and especially the depletion of fish stocks. The opinions of the stakeholders (anglers and guides) converge on the high priority needs of the fishery and possible management actions regarding recreational fishing, such as improved fisheries enforcement (first in order of importance), proper training of fishing guides, zoning of fishing areas, and the definition of a maximum size limit. © 2013 Elsevier Ltd.

Caribbean Community: common external trade regime: Annex I to the national trade operations and procedure guides

Includes bibliography

Lome Convention common external trade regime: Annex II to the national trade operations and procedure guides

Resume los aspectos principales del Convenio de Lome relacionados con el comercio entre la Comunidad Economica Europea y los paises de Africa, Caribe y Pacifico (ACP).

Eastern Caribbean common external trade regime: Annex III to the national trade operations and procedure guides

Contiene los acuerdos del Mercado Comun del Caribe Oriental sobre el regimen de importaciones y exportaciones, y politicas de desarrollo, monetarias y fiscal entre los paises miembros.