scholarly journals How can same-gene mutations promote both cancer and developmental disorders?

2022 ◽  
Vol 8 (2) ◽  
Author(s):  
Ruth Nussinov ◽  
Chung-Jung Tsai ◽  
Hyunbum Jang

This review offers why same-gene mutations can lead to cancer and neurodevelopmental disorders and why a high risk of cancer.

2001 ◽  
Vol 120 (5) ◽  
pp. A741-A741
Author(s):  
P ANG ◽  
D SCHRAG ◽  
K SCHNEIDER ◽  
K SHANNON ◽  
J JOHNSON ◽  
...  

2021 ◽  
Vol 10 (4) ◽  
pp. 861
Author(s):  
Mijna Hadders-Algra

This review discusses early diagnostics and early intervention in developmental disorders in the light of brain development. The best instruments for early detection of cerebral palsy (CP) with or without intellectual disability are neonatal magnetic resonance imaging, general movements assessment at 2–4 months and from 2–4 months onwards, the Hammersmith Infant Neurological Examination and Standardized Infant NeuroDevelopmental Assessment. Early detection of autism spectrum disorders (ASD) is difficult; its first signs emerge at the end of the first year. Prediction with the Modified Checklist for Autism in Toddlers and Infant Toddler Checklist is possible to some extent and improves during the second year, especially in children at familial risk of ASD. Thus, prediction improves substantially when transient brain structures have been replaced by permanent circuitries. At around 3 months the cortical subplate has dissolved in primary motor and sensory cortices; around 12 months the cortical subplate in prefrontal and parieto-temporal cortices and cerebellar external granular layer have disappeared. This review stresses that families are pivotal in early intervention. It summarizes evidence on the effectiveness of early intervention in medically fragile neonates, infants at low to moderate risk, infants with or at high risk of CP and with or at high risk of ASD.


Author(s):  
Satish Sankaran ◽  
Jyoti Bajpai Dikshit ◽  
Chandra Prakash SV ◽  
SE Mallikarjuna ◽  
SP Somashekhar ◽  
...  

AbstractCanAssist Breast (CAB) has thus far been validated on a retrospective cohort of 1123 patients who are mostly Indians. Distant metastasis–free survival (DMFS) of more than 95% was observed with significant separation (P < 0.0001) between low-risk and high-risk groups. In this study, we demonstrate the usefulness of CAB in guiding physicians to assess risk of cancer recurrence and to make informed treatment decisions for patients. Of more than 500 patients who have undergone CAB test, detailed analysis of 455 patients who were treated based on CAB-based risk predictions by more than 140 doctors across India is presented here. Majority of patients tested had node negative, T2, and grade 2 disease. Age and luminal subtypes did not affect the performance of CAB. On comparison with Adjuvant! Online (AOL), CAB categorized twice the number of patients into low risk indicating potential of overtreatment by AOL-based risk categorization. We assessed the impact of CAB testing on treatment decisions for 254 patients and observed that 92% low-risk patients were not given chemotherapy. Overall, we observed that 88% patients were either given or not given chemotherapy based on whether they were stratified as high risk or low risk for distant recurrence respectively. Based on these results, we conclude that CAB has been accepted by physicians to make treatment planning and provides a cost-effective alternative to other similar multigene prognostic tests currently available.


2017 ◽  
Vol 35 (1-2) ◽  
pp. 50-55 ◽  
Author(s):  
Jacques Cosnes

Background: Treatment of inflammatory bowel disease (IBD) in patients with prior malignancy is challenging because therapeutic immunosuppression required for controlling IBD activity may increase the risk of cancer recurrence. Key Messages: Contrary to the observations in the post-transplant population, retrospective observational studies of IBD patients with prior malignancy have not demonstrated that immunosuppressive drugs increased significantly the risk of new or recurrent cancer. However, these studies are highly biased and do not permit the use of these drugs. Factors like the time since treatment completion, severity, and subtype of prior cancer should be weighed along with the current IBD activity before choosing the best therapeutic strategy. In practice, most cases of prior cancer require a delay of at least 2 years before starting or resuming immunosuppressants, including anti-TNF agents. This delay should be extended to 5 years in cancer with a high risk of recurrence including cancer of the urinary tract, gastrointestinal cancer, leukemias, and multiple myeloma. A special attention should be paid to cancers with a high risk of late metastasis (breast, melanoma, renal cell carcinoma). Enteral nutrition, Budesonide, mesalamine, and limited intestinal resection should be considered following the completion of cancer treatment and prior to the safe initiation of immunosuppressive treatment for IBD. Thiopurines should be avoided in case of prior Epstein-Barr virus-related lymphoma, HPV-related carcinomas, and cancer of the urinary tract. Methotrexate and anti-TNF agents seem to be safe except for the risk of recurrent melanoma for the latter. Conclusion: IBD patients with prior malignancy should benefit from individual decisions made on a case-by-case basis.


1970 ◽  
Vol 18 (2) ◽  
pp. 131-133 ◽  
Author(s):  
MM Haque ◽  
AB Siddique ◽  
ABMG Rabbani ◽  
MA Quasem ◽  
AKMG Rahman ◽  
...  

A mass in the lower abdomen in a sexually active man with a cryptorchid testis strongly points towards the diagnosis of malignancy in the abdominal testis.1 The incidence of testicular tumor is 11 times more in inguinal testes and 50 times more in intra abdominal testes. 2 Normally, the testes, which are inside the abdomen during gestation, migrate into the scrotum by the time of birth. Occasionally, boys are born with testes that are still in the abdomen or in the groin, not having completed their journey to the scrotum. These undescended testes are at high risk of cancer and should be moved into the scrotum at an early age or removed entirely.   doi: 10.3329/taj.v18i2.3194 TAJ 2005; 18(2): 131-133


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