Temat: early onset - Prolib Integro

Skocz do pozycji: 1.

Tytuł:: Do We Underestimate Colorectal Cancer Patients Under 50?
Autorzy:: Benli, Sami
Colak, Tahsin
Türkmenoğlu, Mehmet Özgür
Sari, Habip
Baysan, Caner
Tematy:: colorectal cancer
early-onset
late-onset colorectal cancer
young adult; Pokaż więcej
Wydawca:: Index Copernicus International
Powiązania:: https://bibliotekanauki.pl/articles/58599210.pdf Link otwiera się w nowym oknie
Opis:: Introduction: Early-onset colorectal cancer (EOCRC) accounts for approximately 10% of all colorectal cancers (CRCs). EOCRC has a certain hereditary predisposition and distinct clinicopathological and molecular features compared to the traditional average-onset of colorectal cancer (AOCRC). As previous publications have shown, EOCRC has a more advanced TNM stage and a more aggressive tumor histopathology. Aim: In this study, we aimed to evaluate the differences and similarities of EOCRC compared to AOCRC based on clinicopathological characteristics. Material and methods: Between January 2010 and December 2020, 394 patients with inclusion criteria who were operated on at the 3rd level health center for colorectal cancer were included in the study. Patients were divided into two groups as EOCRC (50 years and under) and AOCRC. Pearson's chi-square test was used to compare categorical variables in independent groups. In addition, logistic regression analysis was performed using the Backward method with the variables whose relationship with the age group was evaluated, with P < 0.100. Results: Our final analysis included 80 EOCRC cases and 314 controls. When the EOCRC group was compared with the AOCRC group, there was no statistically significant difference between gender, tumor location, T stage of the tumor, and survival (P = 0.190, P = 0.924, P = 0.165, P = 0.574). However, a statistically significant difference in the N stage, degree of differentiation, lymphovascular invasion (LVI) and perineural invasion (PNI) status, and P-values were: P = 0.006, P = 0.029, P = 0.019, and P = 0.003, respectively. Conclusion: EOCRC has more aggressive tumor biology than AOCRC. Our study shows that more advanced N stage, poor differentiation, tumor deposits, LVI, and PNI are seen more frequently in EOCRC.
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 2.

Tytuł:: Colorectal Cancer: Is it Still a Disease of the Elderly?
Autorzy:: Kędzia-Berut, Renata
Berut, Maciej
Włodarczyk, Marcin
Włodarczyk, Jakub
Dziki, Łukasz
Dziki, Adam
Mik, Michał
Tematy:: colorectal cancer
early-onset colorectal cancer
incidence
screening programs; Pokaż więcej
Wydawca:: Index Copernicus International
Powiązania:: https://bibliotekanauki.pl/articles/58713528.pdf Link otwiera się w nowym oknie
Opis:: Introduction: Colorectal cancer is becoming an increasingly significant health issue, being one of the more commonly diagnosed malignancies. Colorectal tumors account for 10% of all malignant cancers in women and 12% in men. Incidence is higher in the male population, especially among younger individuals. It is commonly believed that colorectal cancer is predominantly associated with advanced age. However, colorectal surgeons, who specialize in the treatment of this type of cancer, are observing a growing number of cases among middle-aged and younger individuals. Aim: The aim of our study was to investigate whether colorectal cancer still predominantly affects elderly individuals, how frequently it is diagnosed in younger patients, and whether the location of tumors in the intestines of younger patients aligns with data from elderly individuals. Materials and methods: The study was conducted retrospectively and included a cohort of 1771 patients who underwent surgical procedures due to colorectal cancer between 2012 and 2015 at the Department of General and Colorectal Surgery at the Medical University of Łódź and between 2014 and 2017 at the Department of General Surgery with a Division of Surgical Oncology at the District Health Center in Brzeziny. Data were analyzed regarding the frequency of colorectal cancer occurrence by age, tumor location in different age groups, and disease stage according to age. Age groups included <40 years, 41–50 years, 51–70 years, and >70 years. Results: The study encompassed a total of 1771 patients, with 988 (55.79%) being males and 783 (44.21%) females. The mean age of the patients was 65.27 ±11.12 years. The highest number of cases was observed in the age range of 60–70 years and 70-80 years. It was found that colorectal tumors in males more frequently occurred on the left side of the colon and rectum, while in females, they were more commonly located on the right side of the colon, which was statistically significant (P = 0.007). Younger age groups of patients (<40 years, 40–50 years) had a similar male-to-female ratio, whereas in age groups above 50 years, males significantly outnumbered females (P = 0.049). The study revealed that in the group of patients below 40 years of age, an advanced stage of colorectal cancer was significantly more common; stage D occurred over twice as often as in the 51–70 age group and over three times as often as in the >70 age group. Conclusions: The incidence of colorectal cancer in Poland is steadily increasing, with a growing number of diagnoses in younger individuals. Research findings demonstrate that males, especially those in younger age groups, are at a higher risk of developing colorectal cancer. A higher disease stage is more frequently observed in younger patients, possibly due to delayed diagnosis and symptomatic treatment. Screening programs should be adjusted to the changing age groups at higher risk. Our study underlines the need to raise public awareness regarding colorectal cancer, particularly among the younger population.
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 3.

Tytuł:: Genetic risk factors of Alzheimer’s disease
Autorzy:: Skrzypa, Marzena
Potocka, Natalia
Bartosik-Psujek, Halina
Zawlik, Izabela
Tematy:: autosomal genetic mutations early-onset Alzheimer Disease genetic polymorphisms
late-onset Alzheimer Disease; Pokaż więcej
Wydawca:: Uniwersytet Rzeszowski. Wydawnictwo Uniwersytetu Rzeszowskiego
Powiązania:: https://bibliotekanauki.pl/articles/1597329.pdf Link otwiera się w nowym oknie
Opis:: Introduction. Alzheimer’s disease (AD) is one of the most common neurodegenerative diseases, which is a serious health problem for societies that live longer. Spontaneous dominant mutations and polymorphisms of selected genes play an important role in development of AD. Aim. Several polymorphisms in selected genes strongly associated with development of Alzheimer’s disease were highlighted in this review: APOE, CYP46, APP, PSEN1, PSEN2, UBQLN1, BACE1, PRND, APBB2, TOMM 40. These gene polymorphisms have a significant role in the development of Alzheimer’s disease and they have potential to be biomarkers. Researchers combine efforts to find significant polymorphisms that would ensure that a person is predisposed to the occurrence of disease symptoms. This topic is often taken up by scientists seeking to develop effective genetic tests for diagnosing AD. Material and methods. Analysis of literature from web of knowledge: Web of Science (all database), NCBI and PubMed. Results. We reviewed the selected important genes and polymorphisms which are most often associated with development of AD. Conclusion. It should be noted that nowadays scientists strive not to focus on only one polymorphism in the gene but on several polymorphisms in different genes concomitantly and above all on interactions between them to the diagnosis of this disease. Only this approach to AD will contribute to the creation of appropriate identification methods. Moreover, we should use the new generation tools - the platform for collecting data and personalized medicine.
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 4.

Tytuł:: Zaburzenia mowy w chorobie Alzheimera o wczesnym początku – studium przypadku
Autorzy:: Potocka-Pirosz, Kamila
Tematy:: early onset Alzheimer’s disease
speech disorders
case study; Pokaż więcej
Wydawca:: Towarzystwo Kultury Języka
Powiązania:: https://bibliotekanauki.pl/articles/2152079.pdf Link otwiera się w nowym oknie
Opis:: This paper describes a case study of a 56-year-old patient suffering from a rare type of early onset Alzheimer’s disease (EOAD). The selection of the topic arose from the desire to draw more attention to this group of patients. While numerous publications in the relevant Polish-language literature have been dedicated to speech disorders in late onset Alzheimer’s disease (LOAD), which is diagnosed in people over 65, there are scarce descriptions of cases of speech disorders in EOAD. The research made use of a survey method (the author’s original survey questionnaire fi lled in by the patient’s wife), and the test method (using the Mini Mental State Examination (MMSE), the Boston Diagnostic Aphasia Examination, selected tasks from the so-called Łucki’s tests and the author’s own tests). The analysis of the collected material revealed serious defi cits in the patient’s actualisation of words, fl uency, understanding of compound structures, reading with understanding, and writing, which has resulted in his withdrawal from communication.
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 5.

Tytuł:: Clinical, genetic, and epidemiological survey of Polish children and adolescents with severe obesity : A study protocol of the Polish-German study project on severe early-onset obesity
Autorzy:: Wójcik, Małgorzata
Ranke, Michael B.
Petriczko, Elżbieta
Zachurzok, Agnieszka
Mazur, Artur
Bik-Multanowski, Mirosław
Flehmig, Bertram
Mierzwa, Magdalena
Wabitsch, Martin
Małecka-Tendera, Ewa
Brandt, Stephanie
Opis:: Severe early-onset obesity (SEOO) in children is a common feature of monogenic obesity. Nowadays, mutations in at least 50 genes are known to be related to monogenic obesity, and many others are tested. Part of them is involved in the leptin–proopiomelanocortin pathway. The aim of the project is to establish the Polish database of severely obese children and adolescents and to evaluate the prevalence of monogenic forms of obesity in this cohort, with a special focus on leptin–proopiomelanocortin pathway abnormalities. The secondary project aim is to identify new population-specific mutations in obesity-related genes in severely obese Polish children and adolescents. This is a prospective multi-center clinical study performed in four Polish centers. The estimated sample size is 500 patients aged 1–18 years, with severe obesity, hyperphagia, and food-seeking behaviors. In each patient, the medical history regarding the obesity duration in the patient and obesity and its complication existence in the family will be taken. Next, the questionnaire regarding the symptom characteristic of specific mutations, which we are going to test, will be performed. Hyperphagia will be assessed on the basis of age-specific questionnaires. The physical examination with anthropometric measurement, basic biochemical and hormonal tests, and leptin and biologically active leptin measurements will be performed. Finally, genetic analysis will be performed using next-generation sequencing with sequencing libraries prepared to include obesity-related genes. The genotyping findings will be confirmed with the use of classic sequencing (Sanger’s method). In the future, the pathogenicity of new mutations in obesity-related genes identified in our cohort is planned to be confirmed by functional testing in vitro. Nowadays, there are no data regarding the prevalence of severe obesity or monogenic obesity in Polish children. This project has the potential to improve understanding of obesity etiology and may contribute to implementing attribute mutation-specific treatment. Moreover, it may lead to a finding of new, population-specific mutations related to SEOO.
Dostawca treści:: Repozytorium Uniwersytetu Jagiellońskiego

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Skocz do pozycji: 6.

Tytuł:: Erken ve Çok Erken Başlangıçlı Şizofreni Olgularında Klozapin Tedavisinin Yeri ve Etkinliği : Beş Olgunun İzlem Süreci Üzerinden Tartışma
The role and efficacy of clozapine treatment in early-onset and very early-onset schizophrenia cases: discussion of five cases
Autorzy:: Yazici, Kemal Utku
Percinel, Ipek
Idris, Bulent
Erermis, Hatice Serpil
Donuk, Tugba
Ozbaran, Burcu
Kose, Sezen Gokcen
Zemła, Joanna
Opis:: Schizophrenia is a serious mental disorder emerging at an early age, characterized by significant breakdowns in thought, perception and behavioral processes and withdrawal from human relationships. Psychopharmacologic and psychosocial approaches should be combined for the treatment of schizophrenia. Although the effects and side effects of both typical and atypical antipsychotics have been studied in adult patients in detail, studies in child and adolescent age groups are inadequate. Clozapine is a prototype of atypical antipsychotics and the first antipsychotic to be defined as atypical. Clozapine is often effective in cases in which typical and other atypical antipsychotics fail, and is accepted as the "gold standard" in the treatment of schizophrenia. In this paper, the effects and side effects of clozapine in five adolescent cases diagnosed with schizophrenia are discussed. Four of these cases showed that clozapine is effective in adolescent schizophrenia. While the four cases showing good responses to the treatment tolerated clozapine well, the other case (case 4) showed an apparent decreasing trend in neutrophil count a short while after starting the treatment and his medication was stopped at the request of his parents.
Dostawca treści:: Repozytorium Uniwersytetu Jagiellońskiego

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Skocz do pozycji: 7.

Tytuł:: Parkinson’s Disease Unfolding Case Study
Analiza studium przypadku choroby Parkinsona
Autorzy:: Parkyn, Brandon H.
Marshall, Colleen
Tematy:: case study
early onset
Parkinson’s disease
studium przypadku
wczesny początek
choroba Parkinsona; Pokaż więcej
Wydawca:: Państwowa Akademia Nauk Stosowanych we Włocławku
Powiązania:: https://bibliotekanauki.pl/articles/55795269.pdf Link otwiera się w nowym oknie
Opis:: Young onset Parkinson’s disease (YOPD) is defined as idiopathic Parkinson’s disease (IPPD) affecting people between the ages of 21 and 40 years old; it makes up approx. 5% of all Parkinson’s Disease patients. The quicker onset of motor complications is what makes YOPD different than the later onset of Parkinson’s Disease. The quicker onset of the motor complications and progression of the disease are what make this disease have a very high morbidity rate. Technology and research have provided the ability to improve motor complications dramatically and extend the ability to maintain function and live a meaningful life. Due to the specificity of the progression of YOPD, nurses and medical staff need to base the care and treatment of the patient on the patient rather than follow a standard protocol for everyone. The University of California in San Francisco (UCSF) symptom management theory and the theory implication for persons with neurological disorders/diseases can provide the basis on how to effectively develop a care plan for these patients. Nurses can have a significant impact on how the disease can affect the patient on the long-term through education, support and advocacy. This case history documents the course of a YOPD patient with unusually severe motor complications. This case study is presenting a 38-year-old male patient that has developed rhabdomyolysis due to dyskinesia. This article aims to help provide context and information pertaining to the usage of simulations when educating both undergraduate and graduate nursing students.
Choroba Parkinsona o początku w młodym wieku (YOPD) jest definiowana jako idiopatyczna choroba Parkinsona (IPPD) dotykająca ludzi w wieku od 21 do 40 lat; stanowi około 5% wszystkich pacjentów z chorobą Parkinsona. Szybszy początek powikłań ruchowych sprawia, że YOPD różni się od późniejszego wystąpienia choroby Parkinsona. Szybszy początek powikłań ruchowych i progresja choroby sprawiają, że schorzenie to ma bardzo wysoki wskaźnik zachorowalności. Technologia i badania pozwoliły radykalnie poprawić występujące komplikacje ruchowe i wydłużyć zdolność do zachowania funkcji i prowadzenia „sensownego” życia. Ze względu na specyfikę progresji YOPD pielęgniarki i personel medyczny musi dostosować opiekę i leczenie do danego pacjenta, a nie postępować zgodnie ze standardowym protokołem dla wszystkich. Teoria zarządzania objawami i implikacje teoretyczne dla osób z zaburzeniami/chorobami neurologicznymi Uniwersytetu Kalifornijskiego w San Francisco (UCSF) mogą stanowić podstawę skutecznego opracowania planu opieki dla tych pacjentów. Pielęgniarki mogą mieć znaczący wpływ na długofalowe oddziaływanie choroby na pacjenta poprzez edukację, wsparcie i poradnictwo. Przedstawiona historia przypadku dokumentuje przebieg pacjenta z YOPD z niezwykle ciężkimi powikłaniami ruchowymi. Niniejsze studium przypadku przedstawia 38-letniego mężczyznę, u którego rozwinęła się rabdomioliza z powodu dyskinezy. Celem tego artykułu jest przedstawienie kontekstu i informacji dotyczących wykorzystania symulacji podczas kształcenia zarówno studentów studiów licencjackich, jak i magisterskich z zakresu pielęgniarstwa.
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 8.

Tytuł:: Zespół Gitelmana o wczesnym początku – opis przypadku i nowości literaturowe
Gitelman syndrome with early onset – a case report and literature news
Autorzy:: Prościak, Katarzyna
Storek, Monika
Zwolińska, Danuta
Kiliś-Pstrusińska, Katarzyna
Tematy:: zespół gitelmana
tubulopatia
wczesny początek
aktualne postępowanie
gitelman syndrome
tubulopathy
early onset
current management; Pokaż więcej
Wydawca:: Śląski Uniwersytet Medyczny w Katowicach
Powiązania:: https://bibliotekanauki.pl/articles/1035906.pdf Link otwiera się w nowym oknie
Opis:: WSTĘP: Zespół Gitelmana (ZG) spowodowany jest genetycznie uwarunkowaną dysfunkcją tiazydo-wrażliwego kotransportera NaCl w dystalnym kanaliku krętym nefronu. Choroba ujawnia się zwykle w wieku dojrzewania lub u dorosłych. W pracy przedstawiono przypadek chłopca, u którego pierwsze objawy wystąpiły w 6 r.ż., natomiast rozpoznanie postawiono w 16 r.ż. OPIS PRZYPADKU: 16-letni chłopiec został przyjęty z następującym wywiadem: od 6 r.ż. co kilka tygodni występowały skurcze mięśni kończyn górnych. Kilkakrotnie obserwowano skurcze mięśni kończyn dolnych oraz mięśnia okrężnego ust, ponadto drętwienie kończyn i twarzy podczas gorączki. Dziecko konsultowano w SOR, gdzie podawano anksjolityki oraz preparaty magnezu. Dwa tygodnie przed przyjęciem do kliniki u chłopca wystąpiła biegunka, gorączka, a następnego dnia krótkotrwała utrata przytomności poprzedzona silnym skurczem mięśni z przymusowym ustawieniem kończyn. Chłopiec był hospitalizowany w szpitalu rejonowym, gdzie stwierdzono zasadowicę metaboliczną, hipokaliemię, hipomagnezemię i przekazano do kliniki. Przy przyjęciu w badaniu fizykalnym nie stwierdzono nieprawidłowości. W badaniach krwi wykazano opisane zaburzenia, ponadto hipochloremię, podwyższone ARO. W badaniach moczu stwierdzono pH zasadowe, niski ciężar właściwy, zwiększone wydalanie magnezu, potasu oraz obniżone wydalanie wapnia. USG jamy brzusznej bez nieprawidłowości. Wartości ciśnienia tętniczego krwi w normie. Badaniem genetycznym potwierdzono rozpoznanie ZG – u pacjenta znaleziono dwie mutacje genu SLC12A3: 2221 G →A (Gly741Arg) oraz1315 G → A (Gly439Ser). Włączono suplementację potasu i magnezu, uzyskując poprawę biochemiczną oraz ustąpienie objawów. WNIOSKI: ZG może ujawnić się wcześnie, a podmiotowe objawy mogą być okresowe i przemijające. Ich występowanie wymaga diagnostyki w kierunku tubulopatii. Długoletni brak rozpoznania i leczenia, oprócz powikłań somatycznych, może prowadzić do obniżenia jakości życia pacjenta.
INTRODUCTION: Gitelman syndrome (GS) is caused by genetic mutation resulting in dysfunction of the thiazide-sensitive sodium-chloride cotransporter located in the distal convoluted tubule. The disease usually produces the first visible symptoms during adolescence or adulthood. This paper describes the case of a boy who developed the first symptoms at the age of 6 and was diagnosed when 16. CASE REPORT: At the time of admission of the 16-year-old boy, the following information was provided: the child suffered from upper limb muscle cramps recurring every few weeks since the age of six. Lower limb and orbicularis oris muscle cramps were also observed. In addition, during fever, the patient presented additional symptoms: numbness of the face and limbs. The patient was treated in an ED with anxiolytics and magnesium. Two weeks before admission he developed diarrhea and fever, followed the next day by severe muscle cramps with forced limb position and finally short term loss of consciousness. The boy was admitted to the local hospital where laboratory tests showed hypokalemia, hypomagnesemia and metabolic alkalosis, and then was transferred to the Clinic of Paediatric Nephrology. Blood tests confirmed earlier results and in addition revealed hypochloremia and increased plasma renin activity. The urine tests had following results: basic pH, decreased specific gravity, increased excretion of potassium and magnesium and reduced excretion of calcium. Blood pressure and abdomen USG were normal. Genetic testing was performed and two heterozygous mutations: 2221 G→A (Gly741Arg) and 1315 G→A (Gly439Ser) were found in the SLC12A3 gene. CONCLUSIONS: GS may occur early in life and produce only short passing episodes when symptoms are observable. The presence of the mentioned symptoms requires considering tubulopathy during diagnosis. If not diagnosed and not treated, GS may lead in the long term to somatic complications and a decreased quality of life.
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 9.

Tytuł:: Analysis of friction and wear processes in an innovative spine stabilization system. Part 2. A study and model of the wear of a metal rod-polymer cord friction joint
Autorzy:: Brończyk, Anna
Tematy:: wear
early-onset idiopathic scoliosis
guided-growth implants
fibres
PE-UHMW
adolescent idiopathic scoliosis; Pokaż więcej
Wydawca:: Politechnika Wrocławska. Oficyna Wydawnicza Politechniki Wrocławskiej
Powiązania:: https://bibliotekanauki.pl/articles/55622125.pdf Link otwiera się w nowym oknie
Opis:: The purpose of this study was to model and describe the processes and phenomena occurring during the sliding interaction between biometal rods (titanium alloys Ti6Al4V and Ti6Al7Nb, austenitic steel AISI 316L, alloy CoCrMo) and PE-UHMW cords, used in spine stabilization systems to treat early-onset idiopathic scoliosis. Methods: The wear of friction joints in two lubricating solutions (acidic sodium lactate and distilled water) at stabilized temperature T = 38 C was studied. The wear of the polymeric cords was investigated through analyses of the chemical composition of the surface of the cords and microscopic examinations of the changes occurring on this surface. In addition, microscopic examinations and EDS analyses of the wear products filtered out from the lubricating medium were carried out. Results: Metallic particles were found to be present in both lubricating solutions at each stage of the friction process. The largest amount of metallic particles was recorded after 5000 motion cycles. Conclusions: The presence of metallic wear products is an evidence of the wear of the harder metal rod due to its friction against the PE-UHMW cord. This means that the use of guided-growth implants poses a risk of inflammations in the peri-implant tissues.
Dostawca treści:: Biblioteka Nauki

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Skocz do pozycji: 10.

Tytuł:: Alzheimers disease : differences in the course of the disease and modern forms of therapy
Choroba Alzheimera : różnice w przebiegu schorzenia i nowoczesne formy terapii
Autorzy:: Mazurek, Monika
Wydawca:: Wydawnictwo Naukowe Tygiel
Opis:: Choroba Alzheimera jest dziś uważana za chorobę cywilizacyjną. Coraz więcej cierpiących na demencję osób skłania ku rozpatrywaniu nowych metod terapeutycznych. Jednym z nich jest trening poznawczy. Załączona praca zawiera przegląd badań w dziedzinie wykorzystywania tej metody u pacjentów z różnymi wersjami Choroby Alzheimera.
Alzheimer's disease is now considered a disease of civilization. More and more people suffering from dementia tends toward considering new therapeutic methods. One of them is a cognitive training. The enclosed work provides an overview ofresearch on the using of this method in patients with different versions of Alzheimer's disease.
Dostawca treści:: Repozytorium Uniwersytetu Jagiellońskiego

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