scholarly journals Clinical and phenotypic variants of hereditary and sporadic colorectal cancer in young patients

2021 ◽  
Vol 60 (2) ◽  
pp. 9-21
Author(s):  
G. A. Afonin ◽  
N. A. Baltayev ◽  
D. R. Kaidarova ◽  
А. К. Ababakriyev ◽  
P. B. Kalmenova

Relevance: In the Republic of Kazakhstan, colorectal cancer (CRC) ranks third in the structure of oncological pathology. In 2008-2019, the CRC incidence in the Republic was growing each year. There is an upward trend in CRC incidence among young people. Cohort studies show that, in young patients, CRC is characterized by distal localization of the tumor process, advanced stages of the disease, an aggressive course, and low tumor differentiation. The known association of phenotypic signs with clinical characteristics of the disease, such as the response to therapy and survival rates, urges addressing this problem. The phenotypic and molecular genetic aspects of CRC in young people have not been systematically studied in Kazakhstan. The purpose of the study was to compare the phenotypic features of hereditary and sporadic colorectal cancer in young patients and patients over 65 years. Results: The study involved 185 patients aged 17 to 50 years (Group 1) and 112 patients aged 65 to 85 (Group 2). In Group 1, a locally advanced process (stage III) was 14.8% more often than in Group 2; stage IV was 1.23 times more common in men; and multiple primary tumors were 3.1% more often, with a prevailing metachronous course. In Groups 1 & 2, most tumors were localized in the rectum; 84.8% and 78.6% of tumors, respectively, occurred in the left half of the colon. The frequency of right-sided tumors increased with age modified by gender (in Group 2). Hereditary burdened anamnesis was detected in 14.6% patients before 50 (6.57% more than in Group 2); family history of CRC – in 4.8% patients. The latter is consistent with published data. The studied syndromic variants met the diagnostic criteria for familial adenomatous polyposis, Lynch syndrome, Peutz-Jeghers syndrome, and familial type X colorectal cancer. Conclusion: The increase in CRC incidence at the age of 50-70 years is explained by the effectiveness of screening. However, the upward trend for the age below 50 needs a detailed study of etiological (dietary, environmental, behavioral, hereditary) factors. Effective early diagnostics requires considering the phenotypic characteristics and hereditary history associated with a high risk of CRC onset.

2021 ◽  
Vol 60 (2) ◽  
pp. 9-21
Author(s):  
G. A. Afonin ◽  
N. A. Baltayev ◽  
D. R. Kaidarova ◽  
P. B. Kalmenova

Relevance: In the Republic of Kazakhstan, colorectal cancer (CRC) ranks third in the structure of oncological pathology. In 2008-2019, the CRC incidence in the Republic was growing each year. There is an upward trend in CRC incidence among young people. Cohort studies show that, in young patients, CRC is characterized by distal localization of the tumor process, “late” stages of the disease, an aggressive course, and low tumor differentiation. The known association of phenotypic signs with clinical characteristics of the disease, such as the response to therapy and survival rates, urges addressing this problem. The phenotypic and molecular genetic aspects of CRC in young people have not been systematically studied in Kazakhstan. The purpose of the study was to compare the phenotypic features of hereditary and sporadic colorectal cancer in young patients and patients over 65 years. Results: The study involved 185 patients aged 17 to 50 years (Group 1) and 112 patients aged 65 to 85 (Group 2). In Group 1, a locally advanced process (stage III) was 14.8% more often than in Group 2; stage IV was 1.23 times more common in men; and multiple primary tumors were 3.1% more often, with a prevailing metachronous course. In Groups 1 & 2, most tumors were localized in the rectum; 84.8% and 78.6% of tumors, respectively, occurred in the left half of the colon. The frequency of right-sided tumors increased with age modified by gender (in Group 2). Hereditary burdened anamnesis was detected in 14.6% patients before 50 (6.57% more than in Group 2); family history of CRC – in 4.8% patients. The latter is consistent with published data. The studied syndromic variants met the diagnostic criteria for familial adenomatous polyposis, Lynch syndrome, Peutz-Jeghers syndrome, and familial type X colorectal cancer. Conclusion: The increase in CRC incidence at the age of 50-70 years is explained by the effectiveness of screening. However, the upward trend for the age below 50 needs a detailed study of etiological (dietary, environmental, behavioral, hereditary) factors. Effective early diagnostics requires considering the phenotypic characteristics and hereditary history associated with a high risk of CRC onset


2021 ◽  
Vol 49 (5) ◽  
pp. 030006052110166
Author(s):  
Adelina Gheju ◽  
Aura Jurescu ◽  
Sorina Tăban ◽  
Diana Al-Jobory ◽  
Fulger Lazăr ◽  
...  

Objective In 2018, colorectal cancer (CRC) was the second most frequent malignancy in Romania after lung cancer. Although CRC is typically encountered in patients >50 years old, CRC's global incidence among younger adults has been increasing. We aimed to compare the disease characteristics of patients with CRC aged ≤50 years with those >50 years old. Methods We retrospectively evaluated data from patients with CRC who underwent standard surgery at “Pius Brinzeu” Emergency County Hospital, Timisoara, Romania. Patients were divided into two groups: Group 1 (patients ≤50 years old) and Group 2 (patients >50 years old). Six parameters were analyzed (sex, residence location, age, tumor localization, microscopic findings, pathological staging). Results Data on age-related CRC were available for 1380 patients treated from January 2012 to December 2018. Group 1 included 120 patients while group 2 included 1260 patients. Significantly more Group 1 patients presented with advanced CRC compared with Group 2 patients (94.2% vs. 87.4%). Furthermore, CRC in younger adults was more likely to be diagnosed at an advanced stage. Conclusions Monitoring the CRC incidence in younger adults is essential to assess whether screening practices require changes and to raise awareness among clinicians of the increasing CRC incidence among younger patients.


2000 ◽  
Vol 93 (3) ◽  
pp. 662-669 ◽  
Author(s):  
Tomiei Kazama ◽  
Ken Takeuchi ◽  
Kazuyuki Ikeda ◽  
Takehiko Ikeda ◽  
Mutsuhito Kikura ◽  
...  

Background Suitable propofol plasma concentrations during gastroscopy have not been determined for suppressing somatic and hemodynamic responses in different age groups. Methods Propofol sedation at target plasma concentrations from 0.5 to 4.0 microgram/ml were performed randomly in three groups of patients (23 per group) who were undergoing elective outpatient gastroscopy: ages 17-49 yr (group 1), 50-69 yr (group 2), and 70-89 yr (group 3). Plasma propofol concentration in which 50% of patients do not respond to these different stimuli were determined by logistic regression: verbal command (Cp50ls), somatic response to gastroscopy (Cp50endo), and gag response to gastroscopy (Cp50gag). Hemodynamic responses were also investigated in the different age groups. Results Cp50ls concentrations were 2.23 microgram/ml (group 1), 1.75 microgram/ml (group 2), and 1.40 microgram/ml (group 3). The Cp50endo values in groups 1 and 2 were 2.87 and 2.34 microgram/ml, respectively, which were significantly higher than their respective Cp50ls values. Cp50endo value in group 3 was 1.64 microgram/ml, which was close to its Cp50ls value. Because of a high degree of interpatient variability, Cp50gag could not be defined. Systolic blood pressure response decreased with increasing propofol concentrations. Conclusions The authors determined the propofol concentration necessary for gastroscopy and showed that increasing age reduces it. Propofol concentration that suppresses somatic response induces loss of consciousness in almost all young patients.


Medicine ◽  
2016 ◽  
Vol 95 (19) ◽  
pp. e3641 ◽  
Author(s):  
Tae Jun Kim ◽  
Eun Ran Kim ◽  
Sung Noh Hong ◽  
Dong Kyung Chang ◽  
Young-Ho Kim

Folia Medica ◽  
2021 ◽  
Vol 63 (3) ◽  
pp. 400-404
Author(s):  
Tanya Bozhkova

Introduction: Bruxism is an involuntary parafunctional habit performed unconsciously during sleep by the jaw muscles in which the tooth rows are pressed against each other and move horizontally. The symptoms in the oral cavity are slightly elusive which makes it difficult to diagnose.Aim: The aim of this study was to analyze the occlusion and disocclusion times in young adults affected by bruxism compared with healthy subjects.Materials and methods: Thirty-four patients (15 men and 19 women) aged between 20-25 years were included in the study. They were allocated into two groups: group 1 – controls (n=13), and group 2 – patients who reported clenching or grinding their teeth (n=21). The study was conducted using a T-Scan Novus occlusion diagnostic device. The results obtained for the occlusion and disocclusion times were analyzed using the latest version of the T-Scan system software (ver. 9.1). The values for occlusion and disocclusion times of all subjects were recorded in the T-Scan.Results: The occlusion times in the control group were found to be longer than those in the bruxism group. The disocclusion times of the subjects in group 1 were found to be shorter than those in group 2.Conclusions: The T-Scan system makes it possible to quantify the occlusion and disocclusion times, which helps to diagnose an initial form of bruxism in individuals at a young age.


Author(s):  
Soo Hyun Park ◽  
Ji Young Min ◽  
Won Cul Cha ◽  
Ik Joon Jo ◽  
Taerim Kim

Understanding age-specific injury patterns allows the continued improvement of prevention strategies. This is a retrospective study analyzing the Korea Emergency Department-Based Injury In-depth Surveillance data, including those aged ≤19 years old between January 2011 and December 2017. In this study, we focused on changes in the modes of injury and severity, and prevention potential by dividing the patients into four age groups: group 1 (0–4 years), group 2 (5–9 years), group 3 (10–14 years), and group 4 (15–19 years). The most common mode of injury in younger age groups 1 and 2 was a fall or slip. Most injuries in older age groups 3 and 4 were unintentional and intentional collisions combined. Traumatic brain injuries (2.1%), intensive care unit admissions (1.8%), and overall death (0.4%) were the highest in group 4. The proportions of severe and critical injury (EMR-ISS ≥ 25) were 7.5% in group 4, 3.2% in group 3, 2.5% in group 1, and 1% in group 2. This study presents a comprehensive trend of injuries in the pediatric population in South Korea. Our results suggest the importance of designing specific injury-prevention strategies for targeted groups, circumstances, and situations.


2007 ◽  
Vol 65 (2b) ◽  
pp. 371-376 ◽  
Author(s):  
Adriana Bastos Conforto ◽  
Fabio Iuji Yamamoto ◽  
Sueli Mieko Oba-Shinjo ◽  
Julio Guy C. Pinto ◽  
Maurício Hoshino ◽  
...  

PURPOSE: It has been suggested that mitochondrial disease may be responsible for a substantial proportion of strokes of indetermined origin. We have preliminarily screened for MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) mutations in young patients with cryptogenic strokes. METHOD: The mitochondrial mutations A3243G and T3271C were investigated in 38 subjects aged less than 46 years. Group 1: 15 patients with cryptogenic strokes; Group 2: 3 patients with diagnosis of MELAS syndrome, including stroke-like episodes; Group 3: 20 healthy subjects. RESULTS: The A3243G mutation was absent in all subjects in Groups 1 and 3 but was present in all subjects in Group 2. CONCLUSION: Our results do not support screening for these mutations to diagnose oligosymptomatic forms of MELAS in cryptogenic strokes in the absence of other features of the syndrome. We suggest that clinical findings should guide mitochondrial genetic testing.


1998 ◽  
Vol 114 ◽  
pp. A581
Author(s):  
I. Claro ◽  
M. Cravo ◽  
L. Glória ◽  
C. Gaspar ◽  
P. Lage ◽  
...  

Author(s):  
Luciano HYBNER ◽  
Fernando Issamu TABUSHI ◽  
Luis Martins COLLAÇO ◽  
Érika Gomes DA ROSA ◽  
Bruno de Faria Melquíades DA ROCHA ◽  
...  

ABSTRACT Background: Retrograde endoscopic cholangiopancreatography (ERCP) effectively treats biliary and pancreatic disorders. Its indications are limited and precise, since its misuse delays adequate treatment, increases costs and to patient´s adverse events. Aim: To compare clinical, radiological and exploratory characteristics in relation to therapeutic success in patients undergoing ERCP in relation to age. Method: 421 patients who underwent the method were retrospectively studied; those who were not able to access the duodenal papilla were excluded. The patients were divided into two age groups: <60 years (group 1) and >60 years (group 2), and the variables of gender, examination indications, radiological findings, therapeutic success, diagnosis and the occurrence of immediate adverse events were analyzed. Results: 177 patients were allocated to group 1 and 235 to group 2. The main indication found in both groups was choledocholithiasis. In group 2, the number of cases of acute cholangitis (p=0.001), biliary stenosis (p=0.002) and papilla cancer (p=0.046) was higher. In this group, urgent indication for ERCP was higher (p=0.042), as well as the diagnosis of biliary tract dilatation (p<0.001). The placement of prostheses was the most common procedure performed in both groups, but the greatest number of patients in absolute quantity occurred in group 2. In group 1, the success in catheterization and the chance of achieving clearing of the biliary tract was significantly higher in compared to group 2 (p=0.016, OR=2.1). Conclusion: The success of catheterization and complete clearance of the bile duct was significantly higher in the group of young patients.


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