scholarly journals Profile of patients seen at a medical genetics outpatient clinic at a University Center in Belém, Pará, Amazon

2021 ◽  
pp. 48-62
Author(s):  
Gabriela Elenor dos Santos Lima ◽  
Carlos Henrique Lopes Martins ◽  
Carla Viana Dendasck ◽  
Ciane Martins de Oliveira ◽  
Euzébio de Oliveira
Keyword(s):  
Outpatient Clinic ◽  
Medical Records ◽  
Autosomal Recessive ◽  
Genetic Diseases ◽  
Medical Specialty ◽  
Medical Genetics ◽  
Microsoft Excel ◽  
University Center ◽  
Development Delay ◽  
Age At Birth

Medical Genetics (GM) has become a recognized medical specialty, with important concepts and approaches in the diagnosis and treatment of many common and rare diseases. Genetic diseases follow inheritance patterns, and may be autosomal recessive, autosomal dominant, linked to the X chromosome or Y chromosome, or multifactorial. The aim of this study was to determine the profile of patients treated at a GM outpatient Clinic at a University Center in Belém, Pará State. Data were collected from patient records, seen between 2014 and 2019, using the researchers’ own questionnaire, with data analyzed and tabulated through the Microsoft Excel program. A total of 101 medical records were analyzed, with predominance of females (51 patients). In addition, most of the care was for children (41.5%). Regarding ethnicity, only the variables “white” and “brown” were observed, with a higher prevalence of brown patients (78 of the total). Also, Belém was the most prevalent city in the naturalness of patients (61 records). The specialties with the highest number of referrals to the GM outpatient clinic were Endocrinology and Neurology, with Neuropsychomotor Development Delay being the most frequent diagnosis. In 42 medical records, the age at diagnosis was not present. Of the 101 patients, only 16 had genetic counseling and in the remaining 85 there was no record on this information. Finally, maternal age at birth was not found in most medical records (absent in 61.38%). Thus, developing a profile of the patient seen in a GM outpatient clinic is important, since it becomes possible to identify any failures in the service provided, in addition to adapting the doctor-patient relationship.

scholarly journals Evaluation of the perception of medical students about medical genetics during the course and professional life, in a University Center Of Belém, Pará, Amazônia

2021 ◽  
pp. 63-77
Author(s):  
Carlos Henrique Lopes Martins ◽  
Gabriela Elenor dos Santos Lima ◽  
Carla Viana Dendasck ◽  
Ciane Martins de Oliveira ◽  
Euzébio de Oliveira
Keyword(s):  
Medical Students ◽  
Medical School ◽  
Quantitative Research ◽  
Professional Training ◽  
Medical Genetics ◽  
Professional Life ◽  
Professional Conduct ◽  
Microsoft Excel ◽  
University Center ◽  
The Subject

The discipline Genetics has a fundamental role in the academic and professional training of medical students. Thus, it is necessary that their perception be regular or good during the basic, clinical and boarding cycles of the course, so that good professional conduct can be based and to condition impulses to the patient’s health. The main objective of the study is to evaluate the perception of the students of the Medical School on Medical Genetics during the course and professional life, in a University Center of Belém, Pará, Amazônia. This is a quantitative research, where a questionnaire was applied prepared by the researchers with open and closed questions. The collected data were analyzed and tabulated in graphs and tables developed through Microsoft Excel 2017. We interviewed 120 students from the 1st to the 12th semester of the course, where 90% stated that they had difficulties in the course of the course, 62.5% had their knowledge expanded after the realization of the same, however, 75% considered that the discipline was insufficient to address the entire length of the subject. It is suggested, then, that students may have greater contact with the subject, either in the form of courses or extracurricular internships.

Molecular genetic diagnostics of Bardet-Biedl syndrome with an MPS-panel

2021 ◽  
pp. 26-35
Author(s):  
М.Д. Орлова ◽  
П. Гундорова ◽  
А.В. Поляков
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Genetic Diagnostics ◽  
Bardet Biedl Syndrome ◽  
Pathogenic Variants ◽  
Development Delay ◽  
Molecular Genetic Diagnostics ◽  
First Time

Синдром Барде-Бидля - аутосомно-рецессивное заболевание, характеризующееся ожирением, пигментной дегенерацией сетчатки, полидактилией, задержкой психоречевого развития и структурными повреждениями почек. В работе представлены результаты применения МПС-панели, включающей кодирующие последовательности и прилегающие интронные области 21 гена, ассоциированного с синдромом Барде-Бидля. Впервые была проведена молекулярно-генетическая диагностика в группе из сорока российских пациентов с синдромом Барде-Бидля из неродственных семей. В результате исследования удалось подтвердить диагноз молекулярно-генетическим методом у 40% пациентов (n=16). В генах BBS1, BBS7 и BBS10 встретились повторяющиеся варианты. Частота встречаемости патогенных и вероятно патогенных вариантов в генах BBS1 и BBS10 у российских пациентов соответствует зарубежным данным. Варианты в гене BBS7 встретились у пяти человек, у четырех из них был обнаружен патогенный вариант c.1967_1968delTAinsC, не встречающийся в других популяциях. Результаты, представленные в статье, показывают значительный вклад в заболеваемость синдромом Барде-Бидля в российской популяции патогенных вариантов в гене BBS7. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney defects. This study shows the results of using an MPS panel that includes coding sequences and intronic areas of 21 genes associated with Bardet-Biedl syndrome. For the first time molecular genetic testing has been provided for the group of 40 Russian patiens with Bardet-Biedl syndrome from unrelated families. As a result of the testing, diagnoses were confirmed for 40% of the patients (n=16). The genes BBS1, BBS7, BBS10 had recurrent variants. The frequency of pathogenic and likely pathogenic variants in the genes BBS1 and BBS10 among Russian patients matches the research data in other countries. Variants in the BBS7 gene were found for five people, four of them had a pathogenic variant c.1967_1968delTAinsC, which is not present among other populations. Results provided in this article show the significant role of pathogenic variants in the BBS7 gene in patients with Bardet-Biedl syndrome in Russian population.

scholarly journals Profil von Patienten, die in einer Ambulanz für medizinische Genetik im Universitätszentrum von Belém, Pará, Amazonien, behandelt wurden

2021 ◽  
pp. 48-62
Author(s):  
Gabriela Elenor dos Santos Lima ◽  
Carlos Henrique Martins Lopes ◽  
Carla Viana Dendasck ◽  
Ciane Martins de Oliveira ◽  
Euzébio de Oliveira
Keyword(s):  
Autosomal Dominant ◽  
Genetische Beratung ◽  
Medical Genetics ◽  
Microsoft Excel ◽  
Medizinische Genetik

Medical Genetics (GM) hat sich zu einer anerkannten medizinischen Spezialität entwickelt, mit wichtigen Konzepten und Ansätzen bei der Diagnose und Behandlung vieler häufiger und seltener Krankheiten. Genetische Krankheiten folgen Vererbungsmustern und können autosomal rezessiv, autosomal dominant, mit dem X-Chromosom oder Y-Chromosom verbunden oder multifaktoriell sein. Ziel dieser Studie war es, das Profil der Patienten zu ermitteln, die in einer GM-Ambulanz in einem Universitätszentrum in Belém (Bundesstaat Para) behandelt wurden. Die Daten wurden aus Patientenakten gesammelt, die zwischen 2014 und 2019 anhand des eigenen Fragebogens der Forscher beobachtet wurden, wobei die Daten über das Microsoft Excel-Programm analysiert und tabelliert wurden. Insgesamt wurden 101 Krankenakten analysiert, wobei Frauen (51 Patienten) vorherrschen. Darüber hinaus wurde der größte Teil der Betreuung für Kinder (41,5 %) in Den Vordergrund gedran. Hinsichtlich der ethnischen Zugehörigkeit wurden nur die Variablen “weiß” und “braun” beobachtet, mit einer höheren Prävalenz von braunen Patienten (78 der Gesamtzahl). Auch Belém war die am weitesten verbreitete Stadt in der Natürlichkeit der Patienten (61 Datensätze). Die Spezialgebiete mit der höchsten Anzahl von Überweisungen an die GM -Ambulanz waren Endokrinologie und Neurologie, wobei neuropsychomotorische Entwicklungsverzögerung die häufigste Diagnose war. In 42 Krankenakten war das Alter bei der Diagnose nicht vorhanden. Von den 101 Patienten hatten nur 16 genetische Beratung und in den übrigen 85 gab es keine Aufzeichnungen über diese Informationen. Schließlich wurde das mütterliche Alter bei der Geburt in den meisten Krankenakten nicht gefunden (abwesend in 61,38 %). Daher ist es wichtig, ein Profil des Patienten zu entwickeln, das in einer GM-Ambulanz gesehen wird, da es möglich wird, fehlerbefähigte Leistungen im Service zu identifizieren, zusätzlich zur Anpassung der Arzt-Patienten-Beziehung.

scholarly journals Inappropriate requests for tumor markers in patients aged 50 years and older: lessons not learned

2021 ◽  
Vol 15 ◽  
Author(s):  
Valter Paz Nascimento-Júnior ◽  
Einstein Francisco Camargos
Keyword(s):  
Internal Medicine ◽  
Health Care ◽  
Health Insurance ◽  
Medical Records ◽  
Private Health Insurance ◽  
Medical Specialty ◽  
Health Care Managers ◽  
Inappropriate Use ◽  
Care Managers ◽  
Previous Diagnosis

OBJECTIVE: To investigate, within a private health insurance, the ordering frequency and the costs related to inappropriate TM test orders. METHODS: This study analyzed data regarding TM requests within a private health insurance between 2010 and 2017. Patients included in this analysis were ≥ 50 years old, had available medical records, and had at least 1 TM tested within the study period. Tests were considered inappropriate when TMs were used in screening for neoplasms, ie, when there was no previous diagnosis. We evaluated data regarding age, sex, the ordering physician’s medical specialty, and test costs. RESULTS: Between 2010 and 2017, 1,112 TM tests were performed and increased from 52 to 262 per year. Our sample consisted mostly of women (69.50%) with a mean age of 59.40 (SD, 8.20) years. Most orders were inappropriate (87.80%) and represented 79.40% of all expenses with TM tests. Cardiology professionals were the medical specialty that requested the most TM tests (23.90%), followed by internal medicine specialists (22.70%) and gynecologists (19.20%). CONCLUSIONS: We observed a high percentage of inappropriate test orders in the study period, resulting in elevated costs. Studies of this nature deserve the attention of health care managers, and interventions should be performed in order to reduce the inappropriate use of TM tests in clinical practice.

scholarly journals Consanguineous marriages in Finland and their implication for genetic disease

1995 ◽  
pp. 45-53
Author(s):  
Jaakko Ignatius
Keyword(s):  
Rural Areas ◽  
Genetic Disease ◽  
Autosomal Recessive ◽  
Genetic Diseases ◽  
Finnish Population ◽  
Autosomal Recessive Disorders ◽  
Consanguineous Marriages ◽  
The Mean ◽  
Autosomal Recessive Diseases ◽  
Recessive Disorders

The frequency of marriages contracted between individuals with close consanguinity has traditionally been low in Finland. In the 19th and early 20th centuries only 0.1-0.3% of all marriages were contracted between first-cousins (average kinship coefficient 0.0001-0.0002). In genealogical search, however, a remote consanguinity (often beyond 3rd cousins) is frequently found especially in the rural areas and the true level of inbreeding is higher. In Finland, several autosomal recessive diseases are known to be enriched in the population. This unique spectrum of genetic diseases is sometimes called »the Finnish Disease Heritage». To study the implication of close consanguinity for these disorders, information on consanguineous marriages closer than second-cousins was collected from 808 families representing 24 different »Finnish» autosomal recessive disorders. The mean rate of first-cousin marriages was 1.6% (0-20%). Consanguinity (parents second-cousins or closer) was found in 4.2% of the families. For comparison, in 160 families representing three »non-Finnish» autosomal disorders the corresponding figures were 1.9% and 2.5%, respectively. Although these figures are high when compared to the general Finnish population, it can be concluded that close consanguinity is not a significant factor of Finnish genetic diseases.

scholarly journals Acne:Clinico-Epidemiological Study In DermatologyVenereology Outpatient Clinic Of Dr. M. Djamil Hospital Padang During January 2016 – December 2018

2020 ◽  
Vol 13 (4) ◽  
pp. 325-328
Author(s):  
Satya Wydya Yenny
Keyword(s):  
Retrospective Study ◽  
Family History ◽  
Epidemiological Study ◽  
Clinical Features ◽  
Outpatient Clinic ◽  
Medical Records ◽  
Skin Disorder ◽  
Epidemiological Data ◽  
Common Type ◽  
History Of

Although acne is usually recognized as an adolescent skin disorder, the prevalence of adults with acne is increasing. The clinical and epidemiological data of acne were evaluated with a view to establishing possible contributing etiological factors and observing whether clinical features differ from adolescent acne. Division of Dermatology and Venereology Outpatient Clinic Dr. M. Djamil hospital padang during January 2016 until December 2018.Retrospective study performed in Medical Cosmetic Division of Dermatology and Venereology Outpatient Clinic Dr. M. Djamil hospital padang during January 2016 until December 2018. Data was taken from medical records. Out of 224 patients included in the study 54.01% were women and 45.98 % were men. Majority of the patients had comedonal acne (45.53 %), whereas nodulocystic was the least common (13.39%). Most common predominant site of involvement was cheek (44.20 %), followed by chin (25.45 %), and mandibular area (14.58 %). Family history of acne was present in 57.70 %. Scarring was observed in a 39.2 %. Acne is predominant in women, with the most commonly involved of the cheeks, with the most common type was comedones type.

scholarly journals Hypoxia and sterile inflammation in cystic fibrosis airways: mechanisms and potential therapies

2016 ◽  
Vol 49 (1) ◽  
pp. 1600903 ◽  
Author(s):  
Samuel T. Montgomery ◽  
Marcus A. Mall ◽  
Anthony Kicic ◽  
Stephen M. Stick
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Current Knowledge ◽  
Genetic Diseases ◽  
Cellular Responses ◽  
Sterile Inflammation ◽  
Hypoxic Cell ◽  
Neutrophilic Inflammation ◽  
Improved Outcomes ◽  
Cystic Fibrosis Airway

Cystic fibrosis is one of the most common autosomal recessive genetic diseases in Caucasian populations. Diagnosisvianewborn screening and targeted nutritional and antibiotic therapy have improved outcomes, however respiratory failure remains the key cause of morbidity and mortality. Progressive respiratory disease in cystic fibrosis is characterised by chronic neutrophilic airway inflammation associated with structural airway damage leading to bronchiectasis and decreased lung function. Mucus obstruction is a characteristic early abnormality in the cystic fibrosis airway, associated with neutrophilic inflammation often in the absence of detectable infection. Recent studies have suggested a link between hypoxic cell death and sterile neutrophilic inflammation in cystic fibrosis and other diseasesviathe IL-1 signalling pathway. In this review, we consider recent evidence regarding the cellular responses to respiratory hypoxia as a potential driver of sterile neutrophilic inflammation in the lung, current knowledge on hypoxia as a pathogenic mechanism in cystic fibrosis and the potential for current and future therapies to alleviate hypoxia-driven sterile inflammation.

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