scholarly journals Genetic counseling follow-up - a retrospective study with a quantitative approach

1999 ◽  
Vol 22 (3) ◽  
pp. 295-307 ◽  
Author(s):  
João M. De Pina-Neto ◽  
Eucia Beatriz L. Petean

The impact of genetic counseling (GC) was evaluated in families, who were interviewed at least two and half years and at most seven years after GC at the Genetics Service of the University Hospital, Faculty of Medicine of Ribeirão Preto, University of São Paulo (HC, FMRP, USP). The 113 families interviewed in this study were asked 48 questions and all children born after GC were studied clinically. We evaluated the families for spontaneous motivation for GC and understanding of GC information, their reproductive decisions, changes in the family after GC and the health status of new children. The majority of families seen at the Hospital das Clínicas de Ribeirão Preto were not spontaneously motivated to undergo GC. They had a low level of understanding about the information they received during GC. Generally families were using contraceptive methods (even when at low genetic risk) with a consequent low rate of pregnancies and children born after GC. These families also had a very low rate of child adoption and divorces when compared to other studies.

Infection ◽  
2021 ◽  
Author(s):  
Kathrin van Bremen ◽  
Malte Monin ◽  
Anna Maria Eis-Hübinger ◽  
Benjamin Marx ◽  
Souhaib Aldabaggh ◽  
...  

Abstract Introduction The CoSHeP study provides novel data on SARS-CoV-2 seroconversion rates in healthcare professionals (HP) at risk at the University Hospital Bonn, a maximum healthcare provider in a region of 900.000 inhabitants. Methods Single-center, longitudinal observational study investigating rate of SARS-CoV-2 IgG seroconversion in HP at 2 time-points. SARS-CoV-2 IgG was measured with Roche Elecsys Anti-SARS-CoV-2 assay. Results Overall, 150 HP were included. Median age was 35 (range: 19–68). Main operational areas were intensive care unit (53%, n = 80), emergency room (31%, n = 46), and infectious disease department (16%, n = 24). SARS-CoV-2-IgG was detected in 5 participants (3%) at inclusion in May/June 2020, and in another 11 participants at follow-up (December 2020/ January 2021). Of the 16 seropositive participants, 14 had already known their SARS-CoV-2 infection because they had performed a PCR-test previously triggered by symptoms. Trailing chains of infection by self-assessment, 31% (n = 5) of infections were acquired through private contacts, 25% (n = 4) most likely through semi-private contacts during work. 13% (n = 2) were assumed to result through contact with contagious patients, further trailing was unsuccessful in 31% (n = 5). All five participants positive for SARS-CoV-2 IgG at inclusion remained positive with a median of 7 months after infection. Discussion Frontline HP caring for hospitalized patients with COVID-19 are at higher risk of SARS-CoV-2 infections. Noteworthy, based upon identified chains of infection most of the infections were acquired in private environment and semi-private contacts during work. The low rate of infection through infectious patients reveals that professional hygiene standards are effective in preventing SARS-CoV-2 infections in HP. Persisting SARS-CoV-2-IgG might indicate longer lasting immunity supporting prioritization of negative HP for vaccination.


2019 ◽  
Author(s):  
M Stättermayer ◽  
F Riedl ◽  
S Bernhofer ◽  
A Stättermayer ◽  
A Mayer ◽  
...  

2021 ◽  
Vol 29 (1) ◽  
pp. 230949902199607 ◽  
Author(s):  
Chia-Lung Shih ◽  
Peng-Ju Huang ◽  
Hsuan-Ti Huang ◽  
Chung-Hwan Chen ◽  
Tien-Ching Lee ◽  
...  

Aim: Taiwan’s response to the coronavirus disease 2019 (COVID-19) differed in that it successfully prevented the spread without having to shutdown or overburden medical services. Patients’ fear regarding the pandemic would be the only reason to reduce surgeries, so Taiwan could be the most suitable place for research on the influence of psychological factors. This study aimed to assess the impact of patients’ fear on orthopedic surgeries in Taiwan amid the peak period of the COVID-19 pandemic. Patients and Methods: The investigation period included the COVID-19 pandemic (March 2020 to April 2020) and the corresponding period in the previous year. The following data on patients with orthopedic diseases were collected: outpatient visits, hospital admission, and surgical modalities. Results: The COVID-19 pandemic led to a 22%–29% and 20%–26% reduction in outpatients, 22%–27% and 25%–37% reduction in admissions, and 26%–35% and 18%–34% reduction in surgeries, respectively, at both hospitals. The weekly mean number of patients was significantly smaller during the COVID-19 pandemic for all types of surgery and elective surgeries at the university hospital, and for all types of surgery, elective surgeries, and total knee arthroplasties at the community hospital. Further, patients visiting the community hospital during the pandemic were significantly younger, for all types of surgery, elective surgeries, and total knee arthroplasties. Conclusions: The reduction in orthopedic surgeries in Taiwan’s hospitals during COVID-19 could be attributed to patients’ fear. Even without restriction, the pandemic inevitably led to a reduction of about 20%–30% of the operation volume.


2021 ◽  
Author(s):  
Negeen Aghassibake ◽  
Lynly Beard ◽  
Jackie Belanger ◽  
Diana Louden ◽  
Robin Chin Roemer ◽  
...  

As part of ARL’s Research Library Impact Framework initiative, the University of Washington (UW) Libraries explored UW faculty and postdoctoral researcher needs for understanding and communicating the impact of their work, with a focus on researchers in science, technology, engineering, and math (STEM) and health sciences fields. The project was designed to understand the challenges researchers face in this area, identify how participants in these fields define and measure impact, and explore their priorities for research-impact support. The project team conducted a survey and follow-up interviews to investigate these questions. This research report presents the project team’s methodology, findings, and recommendations for future research.


2012 ◽  
Vol 16 (1) ◽  
pp. 437-448 ◽  
Author(s):  
Carol A. Prescott ◽  
Deanna Lyter Achorn ◽  
Ashley Kaiser ◽  
Lindsey Mitchell ◽  
John J. McArdle ◽  
...  

Project TALENT is a US national longitudinal study of about 377,000 individuals born in 1942–1946, first assessed in 1960. Students in about 1,200 schools participated in a 2-day battery covering aptitudes, abilities, interests, and individual and family characteristics (Flanagan, 1962; www.projectTALENT.org). Follow-up assessments 1, 5, and 11 years later assessed educational and occupational outcomes. The sample includes approximately 92,000 siblings from 40,000 families, including 2,500 twin pairs and 1,200 other siblings of twins. Until recently, almost no behavior genetic research has been conducted with the sample. In the original data collection information was not collected with the intent to link family members. Recently, we developed algorithms using names, addresses, birthdates, and information about family structure to link siblings and identify twins. We are testing several methods to determine zygosity, including use of yearbook photographs. In this paper, we summarize the design and measures in Project TALENT, describe the Twin and Sibling sample, and present our twin-sib-classmate model. In most twin and family designs, the ‘shared environment’ includes factors specific to the family combined with between-family differences associated with macro-level variables such as socioeconomic status. The school-based sampling design used in Project TALENT provides a unique opportunity to partition the shared environment into variation shared by siblings, specific to twins, and associated with school- and community-level factors. The availability of many measured characteristics on the family, schools, and neighborhoods enhances the ability to study the impact of specific factors on behavioral variation.


2021 ◽  
Vol 13 (5) ◽  
pp. 95-97
Author(s):  
Augustin Delange Hendrick ◽  
Almenord Pharol ◽  
Khawly Clifford PG ◽  
Augustin Delange ◽  
Pierre Marie Woolley

Femoral fractures increase the length of hospital stay for our patients for several reasons such as lack of blood, economic resources, and lack of infrastructure. The use of a C-arm has been shown to reduce patient morbidity due to early functional recovery and reduced hospital stay. Objective: To develop an intramedullary nailing technique without c-arm with a closed focus to reduce the duration of hospitalization of its patients as well as the cost related to the equipment used for follow-up. Methodology: prospective study on 35 patients for 1 year August 2020 to August 2021 Results: We followed 35 patients in which the mean age was 37.83 years with extremes of 18 and 78 years. The male sex predominates 21 against 14 women or 60% against 40% respectively. The sex ratio is 1.5. A total of 19 diaphyseal fractures (54.3%) were nailed, 9 supracondylar (25.7%) and 7 subtrochanteric (20%). Twenty-seven were closed fractures (71.1%), and 8 were open fractures (22.9%). The length of hospitalization was less than 3 days for 30 patients (85.7%), and more than 3 days for 5 patients (14.3%). Conclusion: We recommend that we promote this closed-hearth technique because it improves the postoperative follow-up of patients. Additionally, it would reduce exposure to radiation from c-arm in hospitals that have this equipment.


Bothalia ◽  
2017 ◽  
Vol 47 (2) ◽  
Author(s):  
Khotso Kobisi ◽  
Lerato S. Kose ◽  
Annah Moteetee

Background: A number of books, articles and checklists have been published on Lesotho’s flora. The species presented here have been recorded for South Africa but have not previously been recorded for Lesotho.Objectives: As part of a study aimed at updating biodiversity records of the southern parts of Lesotho (Qacha’s Nek and Quthing districts), with the main focus of compiling a checklist for the Sehlabethebe National Park, this report presents plant species that have until now not been recorded for the Lesotho flora.Method: Several field trips were undertaken between 2004 and 2009. Plant identification was done based on observation and photographic records. After the compilation of the checklist, it became clear that two of the species observed had not been previously recorded for Lesotho. A follow-up trip was carried out in February 2016, during which plant specimens of the presumed new records were collected and deposited at the National University of Lesotho Herbarium (ROML) [and the University of Johannesburg Herbarium (JRAU)]. Plant identification was confirmed by experts in the family Apocynaceae.Results: Two species not previously recorded for Lesotho, namely Ceropegia africana subsp. barklyi and Duvalia caespitosa subsp. caespitosa, were found during the exploration of the southern parts of Lesotho which included the Sehlabathebe National Park.Conclusions: The fact that two species have been recorded in Lesotho for the first time clearly indicates that documentation of the flora of Lesotho needs to be updated. This work is therefore regarded as complementary to previous publications on the Lesotho flora.


2019 ◽  
Vol 128 (10) ◽  
pp. 693-698
Author(s):  
Sabine Dillenberger ◽  
Detlef K. Bartsch ◽  
Elisabeth Maurer ◽  
Peter Herbert Kann

Abstract Purpose It is assumed that primary hyperparathyroidism (pHPT) in Multiple Endocrine Neoplasia (MEN) and lithium-associated pHPT (LIHPT) are associated with multiple gland disease (MGD), persistence and recurrence. The studies purpose was to determine frequencies, clinical presentation and outcome of sporadic pHPT (spHPT), LIHPT and pHPT in MEN. Additional main outcome measures were the rates of MGD and persistence/recurrence. Methods Retrospective analysis of medical records of 682 patients with pHPT who had attended the University Hospital of Marburg between 01–01–2004 and 30–06–2013. All patients were sent a questionnaire asking about their history of lithium medication. Results Out of 682 patients, 557 underwent primary surgery (532 spHPT, 5 LIHPT, 20 MEN), 38 redo-surgery (31 spHPT, 7 MEN), 55 were in follow-up due to previous surgery (16 spHPT, 1 LIHPT, 38 MEN) and 37 were not operated (33 spHPT, 1 LIHPT, 3 MEN). Primary surgeries were successful in 97.4%, revealed singular adenomas in 92.4%, double adenomas in 2.9% and MGD in 3.4% of the cases. Rates of MGD in MEN1 (82.35%) were significantly higher than in spHPT (3.8%), while there was no significant difference between LIHPT (20%) and spHPT. Rates of persistence/recurrence did not significantly differ due to type of surgery (bilateral/unilateral) or type of HPT (spHPT/LIHPT/MEN). Conclusions History of lithium medication is rare among pHPT patients. While MGD is common in MEN1, rates of MGD, persistence or recurrence in LIHPT were not significantly higher than in spHPT.


2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Thomas M. Stadler ◽  
Martin W. Hüllner ◽  
Martina A. Broglie ◽  
Grégoire B. Morand

Abstract 18-flurodesoxyglucose position emission tomography (FDG-PET) with computed tomography (CT) or magnetic resonance imaging (MRI) is a broadly accepted tool for pretherapeutic staging and post-therapeutic assessment of response. The prognostic value of sequential post-therapeutic FDG-PETs and the impact of change in metabolic activity has been scarcely reported so far. We hypothesized that an increase in metabolic activity (as measured by maximum standardized uptake value, SUVmax) would be predictive for recurrence. We retrospectively assessed all oral, oropharyngeal, laryngeal, and hypopharyngeal squamous cell carcinoma patients treated at the Department of Otorhinolaryngology—Head and Neck Surgery, University Hospital Zurich between April 1st, 2010 and September 30th, 2018 (N = 337). After a negative post-treatment FDG-PET at 3 months, we measured the SUVmax of the local tumor area and the regional lymph nodes on follow-up FDG-PET at 9 months. We then correlated SUVmax difference between 9 and 3 months with tumor recurrence using Kaplan Meier analysis. During follow-up, 68 patients (20.2%) had local recurrence and 53 had regional recurrence (15.7%) at a median time of 9.0 (IQR 4.25–14) and 7.0 (IQR 5.25–23) months, respectively. An increase in local and/or regional SUVmax from the 3 months to the 9 months post-therapeutic FDG-PET resulted in a poorer recurrence-free survival (Log rank, P = 0.001, for both). An increase in local SUVmax between 3 and 9 months was associated with a hazard ratio of 4.17 for recurrence (95%CI 1.89–9.2, P = 0.0003). In conclusion, an increase in metabolic activity/SUVmax between two post-therapeutic FDG-PETs requires a histological examination as it is associated with tumor recurrence.


Sign in / Sign up

Export Citation Format

Share Document