Is early-onset colorectal cancer an evolving pandemic? Real-world data from a tertiary cancer center.

BACKGROUND: Early onset Colorectal Cancer (EOCRC), defined as those diagnosed under the age of 50, has been increasing rapidly since 1970. UK data on EOCRC are currently limited and better understanding of the condition is needed. MATERIALS AND METHODS: A single-center retrospective study of patients with EOCRC treated over 9 years (2013-2021) at a large UK cancer center was performed. Clinicopathological features, risk factors, molecular drivers, treatment, and survival were analyzed. RESULTS: In total, 203 patients were included. A significant increase in cases was reported from 2018-2019 (n = 33) to 2020-2021 (n = 118). Sporadic EOCRC accounted for 70% of cases and left-sided tumors represented 70.9% (n = 144). Median duration of symptoms was 3 months, while 52.7% of the patients had de-novo metastatic disease. Progression-free survival after first-line chemotherapy was 6 months (95% CI, 4.85-7.15) and median overall survival (OS) was 38 months (95% CI, 32.86-43.14). In the advanced setting, left-sided primary tumors were associated with a median OS benefit of 14 months over right-sided primaries (28 vs 14 months, P = .009). Finally, primary tumor resection was associated with median OS benefit of 21 months compared with in situ tumors (38 vs 17 months, P < .001). CONCLUSIONS: The incidence of EOCRC is increasing, and survival outcomes remain modest. Raising public awareness and lowering the age for colorectal cancer screening are directions that could improve EOCRC clinical outcomes. There is also a need for large prospective studies to improve the understanding of the nature of EOCRC and the best therapeutic approaches.

MRI-based radiomics for stratifying recurrence risk of early-onset rectal cancer: a multicenter study.

BACKGROUND: Early-onset rectal cancer (EORC) is characterized by a unique disease process with different clinicopathological features compared with late-onset rectal cancer (LORC). Research on the risk of recurrence in EORC patients, however, is limited. We aim to develop a predictive model to accurately predict EORC recurrence risk. MATERIALS AND METHODS: Rectal cancer patients who underwent radical surgery and T2-weighted imaging and diffusion-weighted imaging magnetic resonance imaging (MRI) were retrospectively enrolled from three medical institutions from November 2012 to November 2018. Differences in clinicopathological characteristics between EORC and LORC were compared. Five prediction models for disease-free survival were constructed based on clinicopathological variables and five radiomic features from pretreatment MRI of the EORC. A fixed cut-off value calculated in the training set was used to stratify EORC patients into high-risk and low-risk groups of post-operative recurrence. Model performance was evaluated by concordance index (C-index) and receiver operating characteristic curve. RESULTS: A total of 264 EORC patients (median age, 43 years, 163 males) and 778 LORC patients (median age, 62 years, 520 males) were enrolled. Pretreatment positive carcinoembryonic antigen [hazard ratio (HR) = 2.84, P = 0.006], pathological positive lymph node status (pN positive) [HR = 2.86, P = 0.011] and MRI-based radiomics score [HR = 2.72, P < 0.001] are independent risk factors for disease-free survival in EORC patients. The EORC-ClinPathRadiom model, constructed by integrating the clinicopathological characteristics and MRI-based radiomics features of EORC, showed C-index of 0.82, 0.82, and 0.81 in the training, internal, and external test sets, respectively. This model effectively stratified EORC patients into high risk and low risk of recurrence (HRs for the training, internal, and external test sets were 8.96, 6.81, and 7.46, respectively). CONCLUSION: The EORC-ClinPathRadiom model can effectively predict and stratify the risk of post-operative recurrence in EORC patients.

Oral Antibiotic Use in Adulthood and Risk of Early-Onset Colorectal Cancer: A Case-Control Study.

BACKGROUND AND AIMS: Prior antibiotic use may be a factor in the rising incidence of colorectal cancer seen in those under 50 years of age (early-onset colorectal cancer [EOCRC]); however, the few studies to examine this link have reported conflicting results. Therefore, we evaluated the association between oral antibiotic use in adulthood and EOCRC in a large integrated healthcare system in the United States. METHODS: A population-based nested case-control study was conducted among Kaiser Permanente Northern California patients 18-49 years of age diagnosed with EOCRC (adenocarcinoma of the colon or rectum) in 1998-2020 who had ≥2 years of continuous pharmacy benefit prior to diagnosis. Cases were matched 4:1 to healthy controls on birth year, sex, race and ethnicity, medical facility, and duration of pharmacy benefit. Antibiotic exposure >1 year before the diagnosis/index date was assessed using prescribing records. Conditional logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs). A sensitivity analysis was performed among those with ≥10 years of continuous prescribing records. RESULTS: 1359 EOCRC cases were matched to 4711 healthy controls. Antibiotic use in adulthood was not significantly associated with EOCRC in unadjusted or adjusted analyses (adjusted OR: 1.04; 95% CI: 0.94-1.26). No associations were seen for cumulative number of oral antibiotic dispensations or for any prior period of antibiotic exposure. CONCLUSIONS: In a large United States healthcare setting, there was no conclusive evidence of an association between oral antibiotic use in adulthood and risk of EOCRC.

Risk factors behind the increase of early-onset cancer in Italian adolescents and young adults: An investigation from the Italian AYA Working group.

The incidence of early-onset cancers in adolescents and young adults (AYA) has been increasing worldwide since the 1990s. In Italy, a significant increased rate of 1.6 % per year has been reported for early-onset cancers among females between 2008 and 2016. This is mainly attributable to melanoma, thyroid, breast and endometrial cancer. The aim of our work was to describe temporal trends of the main established lifestyle risk factors (tobacco use, alcohol consumption, obesity, physical inactivity, dietary westernization and reproductive factors) over the last 20 years in the Italian AYA population. Available data on behavioural risk factors, individual and household daily life have been obtained and elaborated from PASSI, ISTAT and Eurostat reports. Lowering age of smoking initiation, an increase in alcohol drinkers among young females, and an obesity and overweight epidemic, particularly among children and adolescents as a result of physical inactivity and dietary habits, may be contributing factors behind this cancer epidemic, especially among females. In-depth investigations are needed to understand the exact role of each contributing factor, the effects of exposure to nicotine-containing products and environmental factors such as endocrine disruptors that could play a role in this phenomenon.

Utility of doppler ultrasound in early-onset neonatal sepsis: A case-control study.

BACKGROUND: Early-onset sepsis is one of the leading causes of neonatal morbidity and mortality worldwide and timely diagnosis is, therefore, of paramount importance. As there is a lack of literature regarding early alteration of the cerebral blood flow (CBF) in neonatal sepsis, our study aimed to appraise changes in the CBF velocities and Doppler indices in neonates with early-onset neonatal sepsis (EONS) and to assess its diagnostic accuracy. METHODS: A total of 99 neonates were recruited in the study; 56 neonates with EONS, and the age-matched 43 neonates without any manifestations of sepsis. A Transcranial Doppler examination and cerebral hemodynamics were assessed in neonates during the first seventy-two hours of life. Doppler indices and CBFV were measured in the anterior cerebral artery (ACA), and middle cerebral artery (MCA), of either side. Sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and diagnostic accuracy were calculated. RESULTS: A significantly lower resistance in Resistivity (RI) and Pulsatility (PI) indices, a significant high end-diastolic velocity (EDV), and relatively higher peak systolic velocity (PSV) in both ACA and MCA have been documented within 72 hours of birth in neonates with EONS compared to the control group of neonates without sepsis. CONCLUSION: Our Study revealed that assessment of CBF at early hours of birth by Transcranial Doppler examination showed alteration in cerebral hemodynamics in neonates with EONS with an increase in the CBF and a decrease in the resistance. It can be adopted as a bedside, noninvasive tool with immediate diagnostic value.

Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reveals Insights Into Disease Heterogeneity.

Aims: This study is aimed at comparing whole exome sequencing (WES) data with the clinical presentation in children with type 1 diabetes onset ≤ 5 years of age (EOT1D). Methods: WES was performed in 99 unrelated children with EOT1D with subsequent analysis to identify potentially deleterious rare variants in MODY genes. High-resolution HLA class II haplotyping, SNP genotyping, and T1D-genetic risk score (T1D-GRS) were also evaluated. Results: Eight of the ninety-nine EOT1D participants carried a potentially deleterious rare variant in a MODY gene. Rare variants affected five genes: GCK (n = 1), HNF1B (n = 2), HNF4A (n = 1), PDX1 (n = 2), and RFX6 (n = 2). At diagnosis, these children had a mean age of 3.0 years, a mean HbA1c of 10.5%, a detectable C-peptide in 5/8, and a positive islet autoantibody in 6/7. Children with MODY variants tend to exhibit a lower number of pancreatic autoantibodies and a lower fasting C-peptide compared to EOT1D without MODY rare variants. They also carried at least one high-risk DR3-DQ2 or DR4-DQ8 haplotype and exhibited a T1D-GRS similar to the other individuals in the EOT1D cohort, but higher than healthy controls. Conclusions: WES found potentially deleterious rare variants in MODY genes in 8.1% of EOT1D, occurring in the context of a T1D genetic background. Such genetic variants may contribute to disease precipitation by a ß-cell dysfunction mechanism. This supports the concept of different endotypes of T1D, and WES at T1D onset may be a prerequisite for the implementation of precision therapies in children with autoimmune diabetes.

Caudate nucleus volume in medicated and unmedicated patients with early- and adult-onset schizophrenia.

The caudate nucleus is a part of the striatum, and striatal hyperdopaminergia is considered central to the pathophysiology of schizophrenia. How caudate volume is affected in schizophrenia and what role antipsychotics play remains unclear. In early-onset schizophrenia (EOS), where psychosis emerges during a neurodevelopmentally critical phase, the caudate may exhibit a heightened vulnerability to the effects of antipsychotic medications. We hypothesized effects of both antipsychotic medication use and age of onset on caudate in schizophrenia. We included adult patients with EOS (n = 83) and adult-onset schizophrenia (AOS) (n = 246), adult healthy controls (HC, n = 774), adolescent patients with non-affective psychosis (n = 56) and adolescent HC (n = 97). We obtained T1-weighted MRI scans using a 1.5T Siemens scanner and General Electric 3T scanners. In our main analysis, we tested for main and interaction effects of diagnosis and current antipsychotic medication use on caudate volume. Adult patients with EOS (p < 0.001) and AOS (p = 0.002) had both larger caudate than HC. Age of onset (EOS/AOS) interacted with antipsychotic use (p = 0.004) which was associated with larger caudate in EOS (p < 0.001) but not in AOS (p = 0.654). Conversely, among medicated patients only, EOS had larger caudate than AOS (p < 0.001). No other subcortical structures showed differences between medicated EOS and AOS. Medicated adolescent patients with non-affective psychosis and medicated adult patients with EOS showed similar caudate volumes. The results may indicate a schizophrenia-related and a medication-induced caudate increase, the latter restricted to patients with EOS and possibly occurring already in adolescence shortly after disease onset.

Global burden of chronic kidney disease in adolescents and young adults, 1990-2019: a systematic analysis for the Global Burden of Disease Study 2019.

Background: The global status of chronic kidney disease (CKD) is underestimated, particularly the burden on adolescents and young adults (early-onset, aged 15-39). Objective: We aim to investigate the pattern and trend of early-onset CKD from 1990 to 2019. Methods: We analyzed age-specific rates of early-onset CKD incidence, death, and disability-adjusted life years (DALY) using Global Burden of Disease Study 2019 data. We examined the global, regional, national, gender-based, age group-based, and temporal changes of early-onset CKD burden from 1990 to 2019, as well as proportional DALY attributions of various risk factors. Results: From 1990 to 2019, the global age-specific incidence rate (per 100,000 population) significantly increased from 25.04 (95% confidence interval 18.51, 31.65) to 32.21 (23.73, 40.81) for early-onset CKD. However, the global age-specific death rate significantly decreased from 2.96 (2.76, 3.15) to 2.86 (2.61, 3.11), and the age-specific DALY rate remained stable. Regarding sociodemographic indexes (SDI), countries with middle SDI had the highest incidence rates and the fastest increasing trends, while those with low and low-middle SDI experienced the highest death and DALY rates. Women had a generally higher age-specific incidence rate than men, whereas men showed higher age-specific death and DALY rates. In addition, the burdens of CKD increased with age among adolescents and young adults. Moreover, the main attributable risk factors for DALY of early-onset CKD were high systolic blood pressure (SBP), fasting plasma glucose (FPG), and body mass index (BMI). Conclusion: The age-specific incidence rate of early-onset CKD increased significantly from 1990 to 2019, and the age-specific DALY rate remained stable. High SBP, high FPG, and high BMI were the primary risk factors. Targeted prevention and healthcare measures should be developed considering age, gender, and region.

Epileptic Encephalopathy of Unknown Cause in Turkey Indicates a New Homozygous NAPB Gene Variant.

Introduction: As with many genetic diseases, the diagnostic role of next-generation sequencing is invaluable for early-onset epileptic encephalopathies. SNARE proteins in synaptic vesicles (synaptobrevin-2) and synaptic plasma membrane (syntaxin-1, SNAP-25) are involved in synaptic exocytosis and recycling. Patient Presentation: Here, we report a patient that started in early childhood with seizures resistant to antiepileptic drugs, then developed epileptic encephalopathy. Discussion/Conclusion: The NAPB gene encodes proteins in the SNARE complex. A previously unidentified homozygous missense variant in the NAPB gene may have contributed significantly to the etiology of our patient with epileptic encephalopathy. We also summarize the clinical, radiological, laboratory, and genetic findings of previously published patients with NAPB variants.

Peripersonal Space Plasticity in Relation to Psychopathology and Anomalous Subjective Experiences in Individuals With Early-Onset and Adult-Onset Schizophrenia.

INTRODUCTION: Individuals with schizophrenia present anomalies in the extension and plasticity of the peripersonal space (PPS), the section of space surrounding the body, shaped through motor experiences. A weak multisensory integration in PPS would contribute to an impairment of self-embodiment processing, a core feature of the disorder linked to specific subjective experiences. In this exploratory study, we aimed at: (1) testing an association between PPS features, psychopathology, and subjective experiences in schizophrenia; (2) describing the PPS profile in individuals with early-onset schizophrenia. MATERIALS AND METHODS: Twenty-seven individuals with schizophrenia underwent a task measuring the PPS size and boundaries demarcation before and after a motor training with a tool. The Positive And Negative Syndrome Scale (PANSS), the Examination of Anomalous Self Experience scale (EASE) and the Autism Rating Scale (ARS) were used to assess psychopathology. Subsequently, participants were divided into two subgroups, early and adult-onset schizophrenia. The two groups were compared in regard to their PPS and psychopathological profiles. RESULTS: PPS patterns were associated with psychopathology, particularly positively with PANSS negative scale score, and negatively with subjective experiences of existential reorientation (EASE Domain 5 scores) and of social encounters (ARS scores). Only PPS parameters and ARS scores differentiated between early and adult-onset participants. CONCLUSIONS: Our results, although preliminary and exploratory, can suggest a link between PPS patterns, negative symptoms, and disturbances of the subjective experience, particularly in the intersubjective domain, in schizophrenia. Moreover, they seem to suggest that specific PPS profiles and schizophrenic autism traits could be markers of early-onset schizophrenia.

Spine to pelvis "T-Construct" using magnetic controlled growing rods in non-walkers neuromuscular early-onset scoliosis: a preliminary study.

BACKGROUNDS: Magnetic controlled growing rods (MCGRs) have been proven to be effective in controlling early onset neuromuscular scoliosis but no study has evaluated the combination with a sacro-bi-iliac construct. The aim of our study is to report surgical management of early onset non-walkers neuromuscular scoliosis correction using MCGRs associated with a sacro-bi-iliac "T-construct" and its mid-term outcomes. Our hypothesis was that this set-up provided well correction of the pelvic obliquity and that this correction was maintained over time. METHODS: A retrospective single-center study was conducted including all consecutive neuromuscular early onset scoliosis who underwent spinopelvic fixation using "T-construct" with two MCGRS. Four millimeters lengthening was performed every 4 months during outpatient clinics sessions. All children had a low-dose biplanar stereoradiography in EOS-Chair at pre/postoperative phase, each outpatient clinic appointment and last follow-up. RESULTS: Eighteen patients were included and 17 analyzed at the last follow-up. The mean age at surgery was 9.5 (range from 5 to 12 years), the mean follow-up was 4,7 years (range from 2.5 to 6.6 years) and 8 patients had a Risser stage above four. The global complication rate was 35% (N = 6/17 patients) including three medical and three mechanical complications related to "T-construct", while the reoperation rate was 18% (N = 2 patients for wound debridement and one for iterative pelvic fixation). Cobb angle and pelvic obliquity were significantly improved by surgery (mean correction was 33.2 ° (55%) and 11 ° (77%) respectively; p < 0.001). At the last follow-up, we noted a loss of frontal Cobb angle correction (p < 0.01) whereas we did not observe any significant loss of pelvic obliquity (p > 0.9). CONCLUSIONS: Although the global complication rate was 35% (half of which are mechanical complications), the treatment combining pelvic T-construct and MCGRs provides satisfactory correction of pelvic obliquity correction, good maintenance in the medium term and may be a procedure to consider for the surgical treatment of early onset neuromuscular scoliosis. LEVEL OF EVIDENCE: IV; Retrospective cohort prognostic study.

Early Onset Anorexia Nervosa in Children Aged 8 to 12 Years: a Retrospective Study.

INTRODUCTION: Early onset anorexia nervosa accounts for 8% of anorexia cases worldwide. Very few studies on this subject exist, given the difficulty of obtaining a sufficiently significant sample. The aim of this study was to supplement the literature and investigate the clinical characteristics of early onset anorexia nervosa. SUBJECTS AND METHODS: This is a monocentric retrospective study carried out on the records of patients aged 8 to 12 years with early onset anorexia nervosa, hospitalized in the child psychiatry unit at the Queen Fabiola University Children's Hospital, in Brussels, from 01/01/2000 to 01/07/2023. Descriptive statistics were then performed on the sample and compared with the data found in the literature. RESULTS: This study included 48 children aged 8 to 12 with early onset anorexia nervosa. In the sample, three children were diagnosed with autism spectrum disorder during hospitalization. The sample included 36 girls and 12 boys, with an average age of 11 years and 7 months. The patients had an average body mass index of 13.6 kg/m2 on admission. A total of 87% of the parents had a history of psychiatric illness. A large majority of the children had underlying depressive and anxiety disorders. The duration of anorexia nervosa in these children was 13.5 months from diagnosis, with an average hospital stay of 5.4 months. CONCLUSIONS: This study seems to show the difficulty for parents and caregivers in diagnosing this illness and the probable impact of genetics and maternal depression on the development of early onset anorexia nervosa.

Modifiable and non-modifiable risk factors of early-onset colorectal cancer: National Health Interview Survey analysis.

BACKGROUND AND AIMS: Although the incidence of colorectal cancer (CRC) diagnosed in individuals younger than 50 years, early-onset CRC (EO-CRC), is rapidly increasing, the risk factors for EO-CRC are still being identified. This study aimed to confirm the modifiable and non-modifiable characteristics identified as risk factors for EO-CRC. METHODS: This cross-sectional study used 2004-2018 National Health Interview Survey (NHIS) data, which provides comprehensive health information gathered from national annual household interview surveys. Demographic, clinical, and behavioral characteristics of EO-CRC patients were compared with those without. In addition, their non-age-related characteristics (gender, race/ethnicity, region, body mass index [BMI], alcohol consumption, and smoking status) were compared with individuals with average-onset CRC (AO-CRC). For both comparisons, multivariable logistic regression analyses were performed. RESULTS: We identified 156 patients with EO-CRC, 204,846 with non-CRC, and 1972 with AO-CRC. Comparison between the EO-CRC and the non-CRC groups showed that higher odds of having EO-CRC was associated with older age (Odds Ratio [OR]=1.11, 95 % CI=1.08-1.14, p<0.001), living in the Midwest (vs. South) (OR=1.64, 95 % CI=1.06-2.55, p=0.03), and history of alcohol consumption (vs. lifetime abstainer) (OR=2.09, 95 % CI=1.01-4.36, p=0.049). Lower odds of having EO-CRC were associated with being Hispanic (OR=0.43, 95 % CI=0.22-0.84, p=0.01) or Asian (OR=0.38, 95 % CI=0.16-0.92, p=0.03) (vs. non-Hispanic White) and having moderate or vigorous physical activities (vs. no activity) (OR=0.58, 95 % CI=0.34-0.999, p=0.0496 and OR=0.34; 95 % CI=0.21-0.55, p<0.0001, respectively). Compared with patients with AO-CRC, patients with EO-CRC were more likely to be Hispanic (vs. non-Hispanic White) (OR=2.21, 95 % CI=1.13-4.33, p=0.02). CONCLUSION: This study verified several modifiable (i.e., alcohol consumption and physical activity) and non-modifiable (i.e., race/ethnicity) risk factors while also discovering a new factor (i.e., geographical region) associated with EO-CRC.

Matching clinical and genetic data in pediatric patients at risk of developing cystic kidney disease.

BACKGROUND: Cystic kidney disease is a heterogeneous group of hereditary and non-hereditary pathologic conditions, associated with the development of renal cysts. These conditions may be present both in children and adults. Cysts can even be observed already during the prenatal age, and pediatric patients with cysts need to be clinically monitored. An early clinical and genetic diagnosis is therefore mandatory for optimal patient management. The aim of this study was to perform genetic analyses in patients with echographic evidence of kidney cysts to provide an early molecular diagnosis. METHODS: A cohort of 70 pediatric patients was enrolled and clinically studied at the time of first recruitment and at follow-up. Genetic testing by clinical exome sequencing was performed and a panel of genes responsible for "cystic kidneys" was analyzed to identify causative variants. Sanger validation and segregation studies were exploited for the final classification of the variants and accurate genetic counseling. RESULTS: Data showed that 53/70 of pediatric patients referred with a clinical suspicion of cystic kidney disease presented a causative genetic variant. In a significant proportion of the cohort (24/70), evidence of hyper-echogenic/cystic kidneys was already present in the prenatal period, even in the absence of a positive family history. CONCLUSIONS: This study suggests that cystic kidney disease may develop since the very early stages of life and that screening programs based on ultrasound scans and genetic testing play a critical role in diagnosis, allowing for better clinical management and tailored genetic counseling to the family.

Association of the gut microbiome and different phenotypes of COPD and asthma: a bidirectional Mendelian randomization study.

Mounting evidence has revealed the association between gut microbiota and both chronic obstructive pulmonary disease (COPD) and asthma; however, the causal association between gut microbiota and specific disease phenotypes remains to be determined. This study employed bidirectional two-sample Mendelian randomization (MR) analyses to investigate the potential causal relationship between gut microbiota and these conditions. The research utilized genome-wide association study (GWAS) data from the MiBioGen consortium for gut microbiota and the integrative epidemiology unit (IEU) Open GWAS for these conditions. Four MR analysis methods were employed: the inverse variance weighted (IVW) test, MR-Egger, weighted median, and weighted mode methods. The IVW method results are considered the primary findings. Sensitivity analyses, including heterogeneity tests, horizontal pleiotropy analysis, and leave-one-out analysis, were used to enhance robustness. Our MR study identified eight gut microbiota taxa potentially associated with the risk of different types of COPD and asthma. These include two taxa for early-onset COPD: Streptococcaceae [odds ratio (OR) = 1.315, 95% confidence interval (CI) = 1.071-1.616, P = 0.009] and Holdemanella (OR = 1.199, 95% CI = 1.063-1.352, P = 0.003); three for later-onset COPD: Acidaminococcaceae (OR = 1.312, 95% CI = 1.098-1.567, P = 0.003), Holdemania (OR = 1.165, 95% CI = 1.039-1.305, P = 0.009), and Marvinbryantia (OR = 0.814, 95% CI = 0.697-0.951, P = 0.009); one for allergic asthma: Butyricimonas (OR = 0.794, 95% CI = 0.693-0.908, P = 0.001); and two for non-allergic asthma: Clostridia (OR = 1.255, 95% CI = 1.043-1.511, P = 0.016) and Clostridiales (OR = 1.256, 95% CI = 1.048-1.506, P = 0.014).IMPORTANCEIndividuals with diverse phenotypes of chronic obstructive pulmonary disease (COPD) and asthma exhibit different responses to the conventional "one treatment fits all" approach. Recent research has revealed the significant role of the gut-lung axis in both COPD and asthma. However, the specific impact of gut microbiota on different subtypes of these conditions remains poorly understood. Our study has identified eight gut microbiota that may be associated with the risk of different types of COPD and asthma. These findings provide evidence suggesting a potential causal relationship between gut microbiota and various phenotypes of COPD and asthma. This offers a new perspective on the origins of different disease phenotypes and points toward future exploration of phenotype-specific and personalized therapies.

Mid- to long-term radiological and respiratory outcomes following surgery for older early-onset scoliosis patients with Marfan syndrome.

This study aimed to elucidate mid- to long-term radiological and respiratory outcomes in patients aged 7-11 years at index surgery with Marfan syndrome and early-onset scoliosis (EOS) in a retrospective multicenter study. Primary outcomes were final thoracic height and final percentage of predicted vital capacity (%VC) at or after 16 years of age. We identified 21 (6 male and 15 female) patients with a mean age of 9.9 years and mean follow-up period of 149.3 months. Fifteen patients underwent primary fusion, whereas six underwent growth-friendly surgery (GFS). The mean preoperative and final T1-T12 heights were 204.0 mm and 248.0 mm, respectively. Final pulmonary function tests were available for 16 patients, and the mean final %VC was 54.0% with 10 patients exhibiting a final %VC < 60%. A significant moderate association was observed between the final T1-T12 height and final %VC. The predicted final T1-T12 height required for a final %VC of 60% was approximately 260 mm. Although most older patients with Marfan syndrome and EOS acquired a considerably large final T1-T12 height, a larger thoracic height was required for satisfactory respiratory function in many cases; hence, GFS may be indicated even in this population.

The relationship between early-onset preeclampsia and the prognostic nutritional index and inflammatory markers.

BACKGROUND: Preeclampsia is still a disease whose cause and treatment have not been fully characterised. Early-onset preeclampsia occurs before the 34th week of pregnancy, and late-onset preeclampsia occurs at 34 weeks or older. In our study, we investigated whether the prognostic nutritional index (PNI) and pan immune inflammation value (PIV), which are used in the prognosis and prediction of diseases in new studies in the literature, are useful for predicting early-onset preeclampsia. METHODS: The first group consisted of healthy pregnant women who had a single foetus without any additional disease between 24 and 34 gestational weeks, and the second group consisted of pregnant women who were diagnosed with early-onset preeclampsia and did not have any additional disease or foetal anomalies during the same gestational week. Neutrophil, lymphocyte, monocyte, thrombocyte, ALB, pan immune inflammation value (PIV) and prognostic nutritional index (PNI) scores were recorded. RESULTS: In our case control study, 70 patients with early-onset preeclampsia and 140 pregnant women composed the normotensive (control) group. There was a significant difference between the groups according to PIV (p = 0.04). The prognostic nutritional index (PNI) was significantly lower in the early-onset preeclampsia group than in the normotensive group (p < 0,001). A PNI lower than 36, 30 could only predict early-onset preeclampsia with a low sensitivity of 31.1% and specificity of 45%; the area under the curve was 0,24 (95% confidence interval 0.18-0.31), p < 0,001. CONCLUSION: Patients with PNI scores lower than 36,30 may have early-onset preeclampsia.

Preeclampsia, often referred to as pregnancy poisoning, is a condition that is life-threatening to the mother and baby. It typically develops after the 20th week of pregnancy and is characterised by high blood pressure and deterioration in blood values. Preeclampsia comes in two forms: early and late. The early form occurs before the 34th week and tends to be more severe than the late form, causing narrowing of the vessels supplying the baby, decreased blood flow, and delayed foetal development. The late form commonly appears after the 34th week and is usually milder. Since the early form carries a higher risk and often requires premature delivery of the foetus or termination of the pregnancy, studies are being conducted on its prevention and treatment. This study aimed to investigate the differences in blood parameters between patients with early-onset preeclampsia and pregnant women with normal blood pressure and to assess for differences between both groups.

Early-onset rectal cancer: Experience of a single-center, high-volume unit.

BACKGROUND AND OBJECTIVE: The incidence of early-onset colorectal cancer among the young (<50 years) has been reported to have risen in last decades. This retrospective study aimed to investigate the characteristics of early-onset rectal cancers (EO-RCs) and potential changes in proportion of EO-RCs, and further to report the mortality and recurrence rates of EO-RCs. METHODS: In the years 2007-2021, 2557 rectal cancer (RC) patients were operated in Helsinki University Hospital and of them 147 were 18-49 years old. Cumulative overall survival (OS), disease-specific survival, and disease-free survival were calculated using the Kaplan-Meier analysis. RESULTS: The percentual amount of the EO-RCs varied between 2.5% and 11.3% annually and there was no perceivable trend. Majority were adenocarcinomas (98.7%), of which 8.8% were mucinous. Predisposing factors such as Lynch syndrome, polyposis, or ulcerative colitis were seen in 26 patients (17.7%) and in 10 of 22 patients (45.5%) under 35 years. The cumulative 5-year OS was 91.9% in stage I, 93.3% in stage II, 86.7% in stage III, and 50.0% in stage IV disease. Metastatic recurrence was found in 22 cases (18.4%) and local recurrence in 8 patients (5.4%) and 6 patients had both. CONCLUSIONS: In our cohort of 147 EO-RC patients, OS was good and the clinical course did not seem to differ much from the course of RC in general population.