scholarly journals Clinical and Prognostic Features in a Young Adult Patient with de novo Myelodysplastic Syndrome presenting t(11;16) (q23; q24)

2022 ◽  
Vol 14 (1) ◽  
pp. e2022013
Author(s):  
Viviane Lamim Lovatel ◽  
Luize Otero ◽  
Ercole Pietro Orlando ◽  
Claudia Diniz ◽  
Filipe Vicente Dos Santos-Bueno ◽  
...  

hematopoietic clonal neoplasms. MDS occurs mainly in elderly patients. KMT2A rearrangements (KMT2A-r) are rare in MDS, so little is known about their prognostic value. The present study describes the clinical characteristics of a young adult patient diagnosed with MDS-EB-2, presenting the t(11;16)(q23;q24). The Decitabine treatment was initiated since no matching donor was found. The patient showed improved anemia and thrombocytopenia. However, he still had severe neutropenia and clonal chromosomal alteration.   Two months after the fifth cycle of Decitabine, the patient presented a worsening of the clinical parameters with increased blast and evolution to AML. He was treated with intensification chemotherapy, but despite all efforts, the patient evolved to death. Treatment refractoriness and leukemia transformation suggest that t(11;16)(q23;q24) with KMT2A-r was associated with poor prognosis. This study reinforces the importance of characterizing new chromosomal alterations and their impact on prognosis in MDS.

2020 ◽  
Vol 11 (3) ◽  
pp. 364-365 ◽  
Author(s):  
Christopher R. Broda ◽  
Daniel A. Castellanos ◽  
Tam Dan N. Pham ◽  
W. Jeff Dreyer ◽  
Angeline D. Opina ◽  
...  

Fontan-associated protein-losing enteropathy is difficult to treat and associated with poor prognosis. Cardiac rehabilitation and exercise are thought to have beneficial effects for patients with Fontan circulation. We report the case of a young adult patient palliated to Fontan circulation, with a decade-long history of symptoms related to protein-losing enteropathy. At age 23 years, he appreciated an improvement in symptoms and laboratory values after cardiac rehabilitation and prescriptive exercise.


2015 ◽  
Vol 02 (01) ◽  
pp. 049-050 ◽  
Author(s):  
Mohammad Sayadnasiri

AbstractNocturnal Paroxysmal Dystonia (NPD) is characterized by abnormal dyskinetic movements occur mostly during non-REM sleep. From introducing NPD in early 1980s, most authors have been in favour of an epileptic origin for these sleep-related episodes. Clinical characteristics of NPD including abrupt hypermotor behaviours, automatisms and vocalizations, abnormal EEG findings in some patients and therapeutic response to anti-epileptic drugs persuade clinicians to accept NPD as sleep-related epilepsy with frontal lobe origin but it seems this conclusion may not be true in all cases. We present a young adult patient with refractory NPD who responded to antihistamine cyproheptadine and propose an alternative theory to describe NPD according to the basal ganglia dysregulation. So, in such patients, other therapeutic approach should be reasonably sought.


2001 ◽  
Vol 90 (6) ◽  
pp. 1070-1072
Author(s):  
Emi Tajima ◽  
Hidetsugu Mihara ◽  
Motohiro Wakabayashi ◽  
Masaya Watarai ◽  
Kazutaka Sugamura ◽  
...  

2021 ◽  
Vol 7 ◽  
Author(s):  
Wilson Matthew Raffaello ◽  
Joshua Henrina ◽  
Ian Huang ◽  
Michael Anthonius Lim ◽  
Leonardo Paskah Suciadi ◽  
...  

Heart failure is currently one of the leading causes of morbidity and mortality. Patients with heart failure often present with acute symptoms and may have a poor prognosis. Recent evidence shows differences in clinical characteristics and outcomes between de novo heart failure (DNHF) and acute decompensated chronic heart failure (ADCHF). Based on a better understanding of the distinct pathophysiology of these two conditions, new strategies may be considered to treat heart failure patients and improve outcomes. In this review, the authors elaborate distinctions regarding the clinical characteristics and outcomes of DNHF and ADCHF and their respective pathophysiology. Future clinical trials of therapies should address the potentially different phenotypes between DNHF and ADCHF if meaningful discoveries are to be made.


2020 ◽  
Author(s):  
xuyang ma ◽  
Ying Ding ◽  
Li Zeng

Abstract Background: The potential correlation between H2AFY (also known as MacroH2A1) and the clinical characteristics of hepatocellular carcinoma (HCC) patients was analysed through gene expression profiles and clinical data in The Cancer Genome Atlas (TCGA) database, and the diagnostic and prognostic value of H2AFY in HCC was discussed. Methods: The gene expression data of HCC and the corresponding clinical characteristics of HCC patients were downloaded from the TCGA database. The differences in H2AFY in normal liver tissues and HCC were analysed. The relationship between H2AFY and clinical characteristics was analysed by Wilcoxon signed-rank test, logistic regression and Kruskal-Wallis test. The Kaplan-Meier method and the Cox regression method were used to analyse the relationship between overall survival and clinical characteristics of the patients. An ROC curve was used to predict the diagnostic value of H2AFY in HCC. Gene set enrichment analysis (GSEA) was used to analyse the pathway enrichment of H2AFY. Result: Compared with normal liver tissues, H2AFY was significantly highly expressed in HCC. H2AFY was positively correlated with the age, clinical stage, G stage (grade) and T stage (tumor stage) of liver cancer patients. Higher H2AFY expression predicted a poor prognosis in HCC patients. Cox regression analysis suggested that H2AFY was an independent risk factor for the prognosis of HCC patients. The ROC curve suggested that H2AFY had certain diagnostic value in HCC. GSEA suggested that H2AFY was correlated with lipid metabolism and a variety of tumour pathways. Conclusion: Our study showed that H2AFY was significantly overexpressed in HCC. H2AFY may be a potential diagnostic and prognostic marker for HCC, and high expression of H2AFY predicts a poor prognosis in patients with HCC.


2018 ◽  
Vol 66 (1) ◽  
pp. e27491 ◽  
Author(s):  
Shree Bose ◽  
Joanna Robles ◽  
Chad M. McCall ◽  
Anand S. Lagoo ◽  
Daniel S. Wechsler ◽  
...  

1986 ◽  
Vol 8 (6) ◽  
pp. 165-167
Author(s):  
James E. Rasmussen

Pearly penile papules are common but not commonly seen in a physician's office. These multiple, white, coronal papules are rarely, if ever, the source of a disease but may cause the adolescent and young adult patient some surprise when they are first noticed. "Discovery" may occur after careful self-examination following suspected contact with venereal disease, sexual exposure, masturbation, or other situations that may be associated with anxiety. Frequently, the patient believes that the lesions originated "overnight"; this is never the case and usually represents inaccurate observation. Lesions of pearly penile papules are characteristic in morphology and locale. They occur exclusively in postpubertal patients. Neinstein and Goldenring1 found pearly penile papules in 23 of 151 (15.2%) boys and men ranging from 11 to 22 years of age. Lesions were not noted in patients less than 14 years old or with a sexual maturity rating less than a Tanner 3. Glicksman and Freeman2 examined 229 men and found these lesions in 45 (20%). There does not appear to be any racial tendency, and whereas one series found a greater percentage in uncircumcised patients,2 a second could not substantiate this possibility.1 Although no surveys have been done in prepubertal patients, it is my clinical impression that these lesions do not occur in this age group.


Surgery Today ◽  
2007 ◽  
Vol 37 (8) ◽  
pp. 713-715 ◽  
Author(s):  
Shogo Tanaka ◽  
Daisuke Kubota ◽  
Sang Hum Lee ◽  
Kazuki Oba ◽  
Takatsugu Yamamoto ◽  
...  

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