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

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

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

Oncologia i radiologia Kazakhstana ◽

10.52532/2663-4864-2021-2-60-9-21 ◽

2021 ◽

Vol 60 (2) ◽

pp. 9-21

Author(s):

G. A. Afonin ◽

N. A. Baltayev ◽

D. R. Kaidarova ◽

А. К. Ababakriyev ◽

P. B. Kalmenova

Keyword(s):

Colorectal Cancer ◽

Young People ◽

Young Patients ◽

Response To Therapy ◽

Sporadic Colorectal Cancer ◽

Upward Trend ◽

Primary Tumors ◽

The Republic ◽

Group 2 ◽

Group 1

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.

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Different disease characteristics in young patients with colorectal cancer: a large retrospective study in a city in Romania

Journal of International Medical Research ◽

10.1177/03000605211016630 ◽

2021 ◽

Vol 49 (5) ◽

pp. 030006052110166

Author(s):

Adelina Gheju ◽

Aura Jurescu ◽

Sorina Tăban ◽

Diana Al-Jobory ◽

Fulger Lazăr ◽

...

Keyword(s):

Colorectal Cancer ◽

Young Patients ◽

Younger Adults ◽

Disease Characteristics ◽

Age Related ◽

Residence Location ◽

Group 2 ◽

Microscopic Findings ◽

Large Retrospective Study ◽

Group 1

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.

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Optimal Propofol Plasma Concentration during Upper Gastrointestinal Endoscopy in Young, Middle-aged, and Elderly Patients

Anesthesiology ◽

10.1097/00000542-200009000-00014 ◽

2000 ◽

Vol 93 (3) ◽

pp. 662-669 ◽

Cited By ~ 44

Author(s):

Tomiei Kazama ◽

Ken Takeuchi ◽

Kazuyuki Ikeda ◽

Takehiko Ikeda ◽

Mutsuhito Kikura ◽

...

Keyword(s):

Plasma Concentrations ◽

Age Groups ◽

Young Patients ◽

Upper Gastrointestinal Endoscopy ◽

Hemodynamic Responses ◽

Verbal Command ◽

Group 3 ◽

Group 2 ◽

Somatic Response ◽

Group 1

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.

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Long-Term Outcome and Prognostic Factors of Sporadic Colorectal Cancer in Young Patients

Medicine ◽

10.1097/md.0000000000003641 ◽

2016 ◽

Vol 95 (19) ◽

pp. e3641 ◽

Cited By ~ 11

Author(s):

Tae Jun Kim ◽

Eun Ran Kim ◽

Sung Noh Hong ◽

Dong Kyung Chang ◽

Young-Ho Kim

Keyword(s):

Colorectal Cancer ◽

Prognostic Factors ◽

Young Patients ◽

Sporadic Colorectal Cancer ◽

Term Outcome ◽

Long Term Outcome

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Occlusion and Disocclusion Time Analysis in Young Patients Affected by Bruxism

Folia Medica ◽

10.3897/folmed.63.e52220 ◽

2021 ◽

Vol 63 (3) ◽

pp. 400-404

Author(s):

Tanya Bozhkova

Keyword(s):

Young Adults ◽

Oral Cavity ◽

Young Patients ◽

Control Group ◽

System Software ◽

Time Analysis ◽

Diagnostic Device ◽

Jaw Muscles ◽

Group 2 ◽

Group 1

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.

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National Surveillance of Injury in Children and Adolescents in the Republic of Korea: 2011–2017

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph17239132 ◽

2020 ◽

Vol 17 (23) ◽

pp. 9132

Author(s):

Soo Hyun Park ◽

Ji Young Min ◽

Won Cul Cha ◽

Ik Joon Jo ◽

Taerim Kim

Keyword(s):

Brain Injuries ◽

Pediatric Population ◽

Age Groups ◽

Prevention Strategies ◽

Group 4 ◽

Group 3 ◽

The Republic ◽

Group 2 ◽

Prevention Potential ◽

Group 1

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.

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Rifting and subduction records of the Paleo–Tethys in North Laos: Constraints from Late Paleozoic mafic and plagiogranitic magmatism along the Song Ma tectonic zone

Geological Society of America Bulletin ◽

10.1130/b35537.1 ◽

2020 ◽

Vol 133 (1-2) ◽

pp. 212-232 ◽

Cited By ~ 1

Author(s):

Yuzhi Zhang ◽

Xue Yang ◽

Yuejun Wang ◽

Xin Qian ◽

Yukun Wang ◽

...

Keyword(s):

South China ◽

Southwest China ◽

Hainan Island ◽

Suture Zone ◽

Published Data ◽

Tectonic Zone ◽

Group 3 ◽

Group 2 ◽

Subduction Setting ◽

Group 1

Abstract In Southeast Asia, the Jinshajiang–Ailaoshan suture in Southwest China and the Song Ma zone in Vietnam were generally accepted as the amalgamation boundary of the South China and Simao/Indochina blocks. However, the tectonic location of the Paleotethyan suture in North Laos and its tectonic affinity remain ambiguous. To address this issue, we present the geochemical and geochronological data of a set of mafic and plagiogranitic rocks along the Song Ma suture zone in North Laos. Three groups of rocks with distinctive petrological, geochronological, and geochemical signatures were identified. The ca. 370 Ma Group 1 plagioclase amphibolite was preserved as xenoliths in the ca. 260 Ma granitoids. It exhibits a normal mid–oceanic–ridge basalt (N–MORB)-like, multi-elemental pattern with highly positive εNd(t) (+3.3 to +10.7) and εHf(t) (+6.68 to +7.41) values and low δ18O values (5.3‰−5.5‰), that are interpreted as products of the Late Devonian − earliest Carboniferous continental rift setting. The ca. 270 Ma Group 2 gabbro/diabase–diorite exhibits arc-like geochemical affinity with the εNd(t), εHf(t), and δ18O values of –5.85 to –3.76, –3.8 to +3.2, and 6.6‰–7.6‰, respectively. It is derived from the metasomatized wedge. The ca. 260 Ma Group 3 plagiogranite shows Nb-Ta and Ti negative anomalies and positive εNd(t) (+3.21 to +4.21), εHf(t) (+8.4 to +13.6), and δ18O (5.9‰−6.8‰) values, which are indicative of its derivation from mafic oceanic crust in a subduction setting. In combination with the published data, these results support the development of the Carboniferous–Permian Paleotethyan branch in North Laos, which represents the tectonic location of the Song Ma suture zone that spatially connects the Jinshajiang–Ailaoshan suture zone in Southwest China and the Chenxing–Bangxi suture zone in Hainan Island, South China.

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Screening for MELAS mutations in young patients with stroke of undetermined origin

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x2007000300001 ◽

2007 ◽

Vol 65 (2b) ◽

pp. 371-376 ◽

Cited By ~ 3

Author(s):

Adriana Bastos Conforto ◽

Fabio Iuji Yamamoto ◽

Sueli Mieko Oba-Shinjo ◽

Julio Guy C. Pinto ◽

Maurício Hoshino ◽

...

Keyword(s):

Genetic Testing ◽

Healthy Subjects ◽

Young Patients ◽

Clinical Findings ◽

Melas Syndrome ◽

Mitochondrial Mutations ◽

A3243g Mutation ◽

Group 3 ◽

Group 2 ◽

Group 1

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.

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