scholarly journals General aspects of xeroderma pigmentosum: A review

2020 ◽  
pp. 114-126
Author(s):  
Danilo José Silva Moreira ◽  
Juliana Brito da Fonseca ◽  
Karoline Rossi ◽  
Suzana dos Santos Vasconcelos ◽  
Vinicius Faustino Lima de Oliveira ◽  
...  
Keyword(s):  
Dna Repair ◽  
Genetic Disease ◽  
Genetic Defect ◽  
High Rate ◽  
Surgical Removal ◽  
Dna Lesion ◽  
Repair Enzymes ◽  
The Individual ◽  
General Aspects

Xeroderma Pigmentoso (XP) is a rare, recessive and autosomal genetic disease that also affects both sexes and all ethnicities, being closely associated with communities with a high rate of inbreeding. The aim of this review was to detail the main routes of DNA repair of XP, the different functional defects that result in the development of the 8 types of XP, the main characteristics of the clinical picture of a patient with XP, the main comorbidities associated with XP, and the treatments available or that are still in studies for individuals affected by XP. The bibliographic research was carried out in the databases: Redalyc, Institutional Repository of the Federal University of Juiz de Fora, Scielo, Brazilian Digital Library of Theses and Dissertations, Science Research.com, Lilacs and Pub Med, using keywords or their associations: Xeroderma – Xeroderma Pigmentoso. XP is a genetic disease that has no cure; the individual with XP has a photosensitive skin and, when exposed to UV radiation, may develop several dermatological complications; the manifestations of XP are directly linked to the genetic defect; NER is undoubtedly the main route of DNA repair when it comes to XP; in XP-V the by-pass of the tape with the DNA lesion is not done by polymerase pol eta but by another polymerase of the Family Y; defects in DNA repair pathways can cause not only XP, but also other diseases; and the treatment for XP is palliative. It consists of the use of specific UV protectors, drugs, repair enzymes and adenoviral vectors, as well as cryosurgery, photodynamic therapy (PDT), surgical removal of tumors and psychological follow-up.

scholarly journals Treatment for Intramuscular Lipoma Frequently Confused with Sarcoma: A 6-Year Restrospective Study and Literature Review

2014 ◽  
Vol 2014 ◽  
pp. 1-7 ◽  
Author(s):  
Hyun Ho Han ◽  
Jong Yun Choi ◽  
Bommie F. Seo ◽  
Suk-Ho Moon ◽  
Deuk Young Oh ◽  
...  
Keyword(s):  
Chart Review ◽  
Imaging Study ◽  
Retrospective Chart Review ◽  
Wide Excision ◽  
High Rate ◽  
Surgical Removal ◽  
Intramuscular Lipoma ◽  
Radiologic Imaging ◽  
Average Tumor Size

Introduction.Intramuscular lipoma is a very rare form of lipoma, known to be categorized as an infiltrating lipoma due to its tendencies to infiltrate the muscle or the synovium. Contrary to other subcutaneous lipomas, even after surgical removal, the rate of local recurrence ranges at a high rate from 50∼80% and differential diagnosis with liposarcoma is very difficult.Patients and Methods.A retrospective chart review was conducted for a total of 27 patients. Before performing a surgery based on the types of mass, a radiologic imaging study was performed. An intraoperative frozen biopsy was performed on every patient and the results were compared. The progress was monitored every 3 to 6 months for recurrence or struggles with rehabilitation.Results.There were 13 male and 14 female patients with an average age of 54.6. The average tumor size was 8.2 cm (1.1 cm∼31.6 cm). Excision was performed using a wide excision. All 27 individuals were initially diagnosed as intramuscular lipoma; however, 1 of the patients was rediagnosed as liposarcoma in the final checkup. The patients had an average of 3 years and 1 month of follow-up and did not suffer recurrences.Conclusion.Thus, it is essential that a frozen biopsy is performed during the surgery in order to identify its malignancy. And a wide excision like malignant tumor operation is a principle of treatment.

Intraluminal mesh erosion after prosthetic hiatoplasty: incidence, management, and outcomes

2019 ◽  
Vol 32 (7) ◽  
Author(s):  
Andrés Sánchez-Pernaute ◽  
María Elia Pérez-Aguirre ◽  
Aida Pérez Jiménez ◽  
Adriana Ruano Campos ◽  
Ana Muñoz ◽  
...  
Keyword(s):  
Erosion Rate ◽  
Gastroesophageal Junction ◽  
Recurrent Hernia ◽  
Mesh Erosion ◽  
High Rate ◽  
Surgical Removal ◽  
Partial Fundoplication ◽  
First Line Therapy ◽  
Primary Surgery

SUMMARY The purpose of the present study was to analyze the incidence, presentation, and treatment of mesh erosion into the esophagus or stomach after mesh hiatoplasty for primary or recurrent hiatal hernia. The study is a single-institution, retrospective cohort study. From November 2005 to December 2016, 122 patients consecutively underwent mesh hiatoplasty in our department, 91 during a primary surgery and 31 for a surgical revision. Follow-up was complete for 74%. Six patients of this series were evaluated for mesh erosion. In all cases, the mesh employed was a dual-type circular one. The mean time from surgery to erosion diagnosis was 42 months (median time 46 months, interquartile range 64 months). Three patients were asymptomatic, 1 had dysphagia, 1 had reflux recurrence, and 1 presented with mediastinal perforation. The absolute erosion rate was 4.9%. For patients under surveillance, the erosion rate was 6.6%, or 1 case every 48 patient-years of follow-up. The erosion rate after primary surgery was 3% or 1/86 patient-years of follow-up, and after surgery for recurrent hernia recurrence was 16% or 1/29 patient-years of follow-up. The mesh was left in place in 2 asymptomatic cases and endoscopically removed in 2 cases. Two patients submitted to surgical removal of the mesh, and only one needed a limited gastroesophageal junction resection for a conversion to a Roux-en-Y gastric bypass. The patient with esophageal perforation submitted to mesh removal, drainage, and an anterior partial fundoplication. There was no mortality. Mesh erosion after hiatoplasty presents with a high rate, especially when hiatoplasty is performed during revisional antireflux surgery. Most patients can be managed conservatively, and endoscopic removal should be considered a first-line therapy.

Mechanisms of tolerance to DNA lesions in mammalian cells

1981 ◽  
Vol 14 (3) ◽  
pp. 381-432 ◽  
Author(s):  
Rogerio Meneghini ◽  
Carlos F. M. Menck ◽  
R. Ivan Schumacher
Keyword(s):  
Genetic Disease ◽  
Mammalian Cells ◽  
Uv Light ◽  
Human Fibroblasts ◽  
Dna Lesions ◽  
Genetic Integrity ◽  
Dna Lesion ◽  
Repair Enzymes ◽  
Pyrimidine Dimers ◽  
A Cell

In recent years it has become clear that different pathways are involved in the process of removing lesions from DNA. In spite of a continuous surveillance of the genetic integrity by repair enzymes, quite often lesions are not eliminated before the portion of the genome where they have been inserted is used for DNA replication or transcription. Actually, the number of unexcised lesions a cell can tolerate without significantly losing its capacity to reproduce is surprising. As an example, human fibroblasts from certain patients with the genetic disease xeroderma pigmentosum (XP)† are virtually unable to excise pyrimidine dimers, the major DNA lesion produced by short-wavelength UV light.

AAC Supports for Individuals With Rett Syndrome Across the Lifespan

2015 ◽  
Vol 24 (3) ◽  
pp. 74-85
Author(s):  
Sandra M. Grether
Keyword(s):  
Rett Syndrome ◽  
Communication Skills ◽  
Preliminary Analysis ◽  
Multidisciplinary Approach ◽  
Motor Deficits ◽  
Complex Profile ◽  
Communication Behaviors ◽  
The Individual

Individuals with Rett syndrome (RS) present with a complex profile. They benefit from a multidisciplinary approach for diagnosis, treatment, and follow-up. In our clinic, the Communication Matrix © (Rowland, 1990/1996/2004) is used to collect data about the communication skills and modalities used by those with RS across the lifespan. Preliminary analysis of this data supports the expected changes in communication behaviors as the individual with RS ages and motor deficits have a greater impact.

Surgical treatment of transmissible venereal tumor (sticker sarcoma)

2020 ◽  
Vol 18 (1) ◽  
Author(s):  
Bougherara Hithem ◽  
Boukhechem Saïd ◽  
Aguezlane Abdelaziz ◽  
Benelhadj Khouloud ◽  
Aissi Adel
Keyword(s):  
Surgical Treatment ◽  
Cancer Cells ◽  
Treatment Method ◽  
High Rate ◽  
Surgical Removal ◽  
Characteristic Appearance ◽  
Recurrent Tumors ◽  
External Genital Organs

Background: Sticker sarcoma, also called venereal sarcoma or venereal lymphosarcomatosis, is a tumor of the external genital organs in females and males. In male animals the penis and foreskin (prepuce) are affected, in the female, it happens in vagina (vagina) and labia (vulva). The diagnosis of sticker sarcoma is based on the chronic discharge, the typical locations and the characteristic appearance of the tumor. Methods: We have relied on the treatment method on the complete surgical removal of all cancer cells that we can access. Results: After surgery, we notice recurrent tumors about six months after surgical treatment, indicating the need for other treatments in addition to surgery. Conclusion: Although spontaneous regressions of sticker sarcoma are documented (with permanent immunity), chemotherapy is the treatment of choice today. Irradiation should also be effective. If the tumor is only removed surgically, there is a high rate of recurrence, and this is what happened with the case that we treated, as the tumor reappeared after less than six months.

Benign notochordal cell tumor of the clivus with chordoma component: report of 2 cases

2020 ◽  
Vol 133 (5) ◽  
pp. 1355-1359
Author(s):  
Maria Peris-Celda ◽  
Laura Salgado-Lopez ◽  
Carrie Y. Inwards ◽  
Aditya Raghunathan ◽  
Carrie M. Carr ◽  
...  
Keyword(s):  
Histological Analysis ◽  
Cell Tumor ◽  
Surgical Removal ◽  
Anatomical Site ◽  
Adjuvant Radiation ◽  
Resonance Imaging ◽  
Adjuvant Radiation Therapy ◽  
Notochordal Cell ◽  
Transsphenoidal Resection

Benign notochordal cell tumors (BNCTs) are considered to be benign intraosseous lesions of notochord origin; however, recent spine studies have suggested the possibility that some chordomas arise from BNCTs. Here, the authors describe two cases demonstrating histological features of BNCT and concomitant chordoma involving the clivus, which, to the best of the authors’ knowledge, have not been previously documented at this anatomical site.An 18-year-old female presented with an incidentally discovered clival mass. Magnetic resonance imaging revealed a 2.8-cm nonenhancing lesion in the upper clivus that was T2 hyperintense and T1 hypointense. She underwent an uneventful endoscopic transsphenoidal resection. Histologically, the tumor demonstrated areas of classic chordoma and a distinct intraosseous BNCT component. The patient completed adjuvant radiation therapy. Follow-up showed no recurrence at 18 months.A 39-year-old male presented with an incidentally discovered 2.8-cm clival lesion. The nonenhancing mass was T2 hyperintense and T1 hypointense. Surgical removal of the lesion was performed through an endoscopic transsphenoidal approach. Histological analysis revealed areas of BNCT with typical features of chordoma. Follow-up did not demonstrate recurrence at 4 years.These cases document histologically concomitant BNCT and chordoma involving the clivus, suggesting that the BNCT component may be a precursor of chordoma.

Leadership Enactment for Information System Acceptance: an Explanation from a Sensemaking Perspective

2019 ◽  
pp. 78-106
Author(s):  
Aruna Dayanatha ◽  
J A S K Jayakody
Keyword(s):  
Information System ◽  
User Involvement ◽  
High Rate ◽  
Is Success ◽  
Managerial Leadership ◽  
Individual Level ◽  
System Acceptance ◽  
The Individual ◽  
Leadership Intervention ◽  
Is Failure

Information system (IS) projects have been seen to be failing at an alarmingly high rate. The prevailing explanations of IS failure have had only a limited success. Thus, the time may be right to look at the reasons for IS failure through an alternative perspective. This paper proposes that IS success should be explained in terms of managerial leadership intervention, from the sensemaking perspective. Managers are responsible for workplace outcomes; thus, it may be appropriate to explain their role in IS success as well. The sensemaking perspective can explain IS success through holistic user involvement, a concept which critiques of existing explanations have stated to be a requirement for explaining IS failure. This paper proposes a framework combining the theory of enactment and leadership enactment to theorize managerial leadership intervention for “IS success.” The proposed explanation postulates that the managerial leader’s envisioning of the future transaction set influences the liberation of the follower and cast enactment, while liberating followers and cast enactment constitute manager sensegiving. The managerial leader’s sense-giving influences follower sensemaking. Follower sensemaking, under the influence of managerial sensegiving, will lead to followers’ IS acceptance, and that constitutes IS success at the individual level. Further, collective level IS acceptance constitutes IS adaption/success, and this will influence the leader’s sensegiving, for the next round of sensemaking.

EFFECT OF MMSC AND HSC ON REPARATIVE REGENERATION OF THE LIVER UNDER CONDITIONS OF ITS TOXIC DAMAGE

2020 ◽  
Vol 17 (3) ◽  
pp. 243-248
Author(s):  
I.Yu. Maklakova ◽  
◽  
V.V. Bazarniy ◽  
D.Yu. Grebnev ◽  
◽  
...  
Keyword(s):  
Dna Repair ◽  
Carbon Tetrachloride ◽  
Mitotic Activity ◽  
Liver Damage ◽  
Inflammatory Activity ◽  
Control Group ◽  
Nacl Solution ◽  
Repair Enzymes ◽  
Toxic Liver Damage ◽  
Hsc Transplantation

The aim of this study was to study the effect of combined MMSC and HSC transplantation on liver regeneration under conditions of toxic carbon tetrachloride damage. Materials and methods. The study was performed on white male mice with toxic liver damage by intraperitoneal administration of carbon tetrachloride at a dose of 50 µl per mouse once. An hour after modeling liver damage, placental MMSCs and HSCs were administered intravenously at a dose of 4 million cells/kg and 330 thousand cells/kg, respectively, suspended in 0.2 ml of 0.9% NaCl solution. Control group animals were given 0.9% NaCl solution-0.2 ml intravenously. On days 1, 3, and 7 after cell transplantation, changes in inflammatory activity in the liver were evaluated, and mitotic and apoptotic indices were determined. On the 7th day after the introduction of cells, the activity of DNA repair enzymes of the PARP family was analyzed. Results. Combined MMSC and HSC transplantation leads to a decrease in the index of inflammatory activity in the liver due to a decrease in necrosis, hepatocyte dystrophy, and a decrease in infiltration. As a result of the study, an increase in the activity of PARP repair enzymes was found, which led to a decrease in programmed cell death. Also, cotransplantation of MMSCs and HSCs was accompanied by increased mitotic activity of hepatocytes. Conclusion. Cotransplantation of MMSCs and HSCs under conditions of toxic liver damage reduces the inflammatory response, stimulates the mitotic activity of hepatocytes, and increases the activity of enzymes of the DNA repair system. Activation of the liver's reparative system, in turn, reduces the programmed death of hepatocytes.

NGOs

2018 ◽  
Author(s):  
Patrick Mutzenberg
Keyword(s):  
Human Rights ◽  
Cultural Rights ◽  
National Implementation ◽  
The Individual ◽  
Oral Information

This chapter evaluates the role played by NGOs before the Committee on Economic, Social and Cultural Rights and the Human Rights Committee. Even if NGO participation was not originally foreseen in the Covenants, clear proceedings have subsequently been established to ensure their involvement in the Committees’ work. This chapter’s main focus is on the reporting procedure: it assesses how NGOs can submit written and oral information to strengthen this process. It also briefly addresses the NGO role in other areas of the Committees’ work, in particular the drafting of General Comments and the individual communications mechanisms. However, NGO participation is not limited to the work carried out in Geneva, and the chapter highlights recent NGO initiatives to ensure proper national implementation of the Committees’ recommendations. Such engagement is also possible in the context of the follow-up procedures, albeit to different extents depending on the practices of the respective Committee.

Intramedullary Teratoma: Case Report and Review of the Literature

1996 ◽  
Vol 82 (6) ◽  
pp. 616-620 ◽  
Author(s):  
Riccardo Caruso ◽  
Mariano Antonelli ◽  
Luigi Cervoni ◽  
Maurizio Salvati
Keyword(s):  
Case Report ◽  
Surgical Removal ◽  
International Literature ◽  
Review Of The Literature ◽  
Personal Case

Aims and Background Intramedullary teratoma is an extremely exceptional tumor (5 cases), although a careful review of international literature has shown it to be more frequent (32 cases) than believed. Methods The authors present a personal case with some unusual aspects. Results Our case is unusual not only because it was diagnosed by MRI (only one case has been reported in the literature) but also because surgical removal of the tumor was apparently total (only 4 other cases have been described), with a long follow-up period (4.5 years) and excellent results, in clinical and neuroradiologic terms.

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