scholarly journals Clinical Observations and Treatment Approaches for Scoliosis in Prader–Willi Syndrome

Genes ◽  
2020 ◽  
Vol 11 (3) ◽  
pp. 260
Author(s):  
Harold J.P. van Bosse ◽  
Merlin G. Butler
Keyword(s):  
De Novo ◽  
Skeletal Maturity ◽  
Age Distribution ◽  
Clear Understanding ◽  
Prader Willi Syndrome ◽  
Therapeutic Approaches ◽  
Clinical Observations ◽  
Radiographic Screening ◽  
Orthopedic Care ◽  
Surgical Choices

Prader–Willi syndrome (PWS) is recognized as the first example of genomic imprinting, generally due to a de novo paternal 15q11-q13 deletion. PWS is considered the most common genetic cause of marked obesity in humans. Scoliosis, kyphosis, and kyphoscoliosis are commonly seen in children and adolescents with PWS with a prevalence of spinal deformities cited between 15% to 86%. Childhood risk is 70% or higher, until skeletal maturity, with a bimodal age distribution with one peak before 4 years of age and the other nearing adolescence. As few reports are available on treating scoliosis in PWS, we described clinical observations, risk factors, therapeutic approaches and opinions regarding orthopedic care based on 20 years of clinical experience. Treatments include diligent radiographic screening, starting once a child can sit independently, ongoing physical therapy, and options for spine casting, bracing and surgery, depending on the size of the curve, and the child’s age. Similarly, there are different surgical choices including a spinal fusion at or near skeletal maturity, versus a construct that allows continued growth while controlling the curve for younger patients. A clear understanding of the risks involved in surgically treating children with PWS is important and will be discussed.

A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome

1991 ◽  
Vol 86 (5) ◽  
Author(s):  
A. Smith ◽  
R. Lindeman ◽  
F. Volpato ◽  
A. Kearney ◽  
S. White ◽  
...  
Keyword(s):  
Reciprocal Translocation ◽  
De Novo ◽  
Prader Willi Syndrome

De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome

2012 ◽  
Vol 158A (10) ◽  
pp. 2557-2563 ◽  
Author(s):  
Lindsay C. Burrage ◽  
Richard E. Person ◽  
Angela Flores ◽  
Maria Theresa M. Villanos ◽  
Weimin Bi ◽  
...  
Keyword(s):  
De Novo ◽  
Prader Willi Syndrome ◽  
Interstitial Duplication

Papillary carcinoma arising in a thyroglossal duct cyst: a case report and literature review

1995 ◽  
Vol 109 (11) ◽  
pp. 1124-1127 ◽  
Author(s):  
Andreas W. Hilger ◽  
Stuart D. Thompson ◽  
Lesley A. Smallman ◽  
John C. Watkinson
Keyword(s):  
Papillary Carcinoma ◽  
De Novo ◽  
English Literature ◽  
Thyroglossal Duct Cyst ◽  
Therapeutic Approaches ◽  
Duct Cyst ◽  
Duct Carcinoma ◽  
Thyroglossal Duct ◽  
Thyroglossal Duct Carcinoma ◽  
Gland Tumour

AbstractPapillary carcinoma arising in a thyroglossal duct cyst is a rare finding. Less than 100 cases have been reported in the English literature. In most cases the diagnosis is only established after excision of a clinically benign thyroglossal duct cyst. The aetiology of such tumours is unclear but de novo origin and spread from a primary thyroid gland tumour has been suggested. This has important implications for therapeutic approaches. A further case of thyroglossal duct carcinoma is presented and the management is discussed on the basis of the current rationale for treatment of thyroid cancer.

scholarly journals Age Distribution, Comorbidities and Risk Factors for Thrombosis in Prader–Willi Syndrome

Genes ◽  
2020 ◽  
Vol 11 (1) ◽  
pp. 67 ◽  
Author(s):  
Merlin G. Butler ◽  
Aderonke Oyetunji ◽  
Ann M. Manzardo
Keyword(s):  
Risk Factors ◽  
Age Distribution ◽  
Health Claims ◽  
P Value ◽  
Age Difference ◽  
Prader Willi Syndrome ◽  
Age Cohorts ◽  
Risk Of Death ◽  
Diagnostic Codes ◽  
And Gender

Prader–Willi syndrome (PWS) is an imprinting disorder caused by lack of expression of the paternally inherited 15q11.2–q13 chromosome region. The risk of death from obesity-related complications can worsen with age, but survival trends are improving. Comorbidities and their complications such as thrombosis or blood clots and venous thromboembolism (VTE) are uncommon but reported in PWS. Two phases of analyses were conducted in our study: unadjusted and adjusted frequency with odds ratios and a regression analysis of risk factors. Individuals with PWS or non-PWS controls with exogenous obesity were identified by specific International Classification of Diseases (ICD)-9 diagnostic codes reported on more than one occasion to confirm the diagnosis of PWS or exogenous obesity in available national health claims insurance datasets. The overall average age or average age per age interval (0–17 year, 18–64 year, and 65 year+) and gender distribution in each population were similar in 3136 patients with PWS and 3945 non-PWS controls for comparison purposes, with exogenous obesity identified from two insurance health claims dataset sources (i.e., commercial and Medicare advantage or Medicaid). For example, 65.1% of the 3136 patients with PWS were less than 18 years old (subadults), 33.2% were 18–64 years old (adults), and 1.7% were 65 years or older. After adjusting for comorbidities that were identified with diagnostic codes, we found that commercially insured PWS individuals across all age cohorts were 2.55 times more likely to experience pulmonary embolism (PE) or deep vein thrombosis (DVT) than for obese controls (p-value: 0.013; confidence interval (CI): 1.22–5.32). Medicaid-insured individuals across all age cohorts with PWS were 0.85 times more likely to experience PE or DVT than obese controls (p-value: 0.60; CI: 0.46–1.56), with no indicated age difference. Age and gender were statistically significant predictors of VTEs, and they were independent of insurance coverage. There was an increase in occurrence of thrombotic events across all age cohorts within the PWS patient population when compared with their obese counterparts, regardless of insurance type.

CC-486 is safe and well-tolerated as maintenance therapy in elderly patients (≥75 years) with acute myeloid leukemia (AML) in first remission following induction chemotherapy: Results from the phase III QUAZAR AML-001 trial.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 7530-7530
Author(s):  
Farhad Ravandi ◽  
Andrew Wei ◽  
Hartmut Dohner ◽  
Hervé Dombret ◽  
Gert J. Ossenkoppele ◽  
...  
Keyword(s):  
Maintenance Therapy ◽  
Induction Chemotherapy ◽  
De Novo ◽  
Age Distribution ◽  
Age Groups ◽  
Study Drug ◽  
Phase Iii ◽  
Cell Transplant ◽  
Hematopoietic Stem ◽  
First Remission

7530 Background: About 40-50% of older patients (pts) with AML attain complete remission (CR) with induction chemotherapy (IC) but relapse is common.Effective, well-tolerated maintenance treatment (Tx) is needed for older pts in remission who are not eligible for hematopoietic stem cell transplant (HSCT). CC-486 is an oral hypomethylating agent that allows for extended dosing schedules ( >7 days [d]/cycle) to sustain therapeutic activity. In the phase III placebo (PBO)-controlled QUAZAR AML-001 trial (NCT01757535), CC-486 maintenance therapy in pts with AML in first remission following IC produced significant improvements in overall and relapse-free survival. Here we report safety and tolerability findings among pt subgroups defined by age at study entry. Methods: Eligible pts were ≥ 55 yrs of age, with de novo or secondary AML, intermediate or poor risk cytogenetics, and ECOG PS ≤ 3; had achieved first CR or CRi after IC ± consolidation; and were not candidates for HSCT. Within 4 mo of CR/CRi, pts were randomized 1:1 to CC-486 300 mg or PBO QD on d 1–14 of repeated 28d Tx cycles. Safety was assessed across 3 age subgroups (≥ 55 to < 65, ≥ 65 to < 75, and ≥ 75 yrs) in pts who received ≥ 1 dose of study drug. Adverse events (AEs) were coded using MedDRA v. 22.0 and graded by NCI-CTCAE v. 4.0. Results: 469 pts ( >99% of all enrolled pts) were evaluable for safety (CC-486 n = 236; PBO n = 233). Median age was 68 yrs (range 55-86). Age distribution was similar between the two Tx arms (Table). Between Tx arms, AE rates within each age stratum were similar to rates in the overall study population. The most common AEs (any grade) with CC-486 were GI events, which were more frequent than in the PBO arm across age groups. Within the CC-486 arm, AE rates were generally consistent across age groups, except for constipation, which was > 20% more frequent in pts aged ≥ 75 yrs, and thrombocytopenia, which was ≥ 20% less frequent in this group (Table). Overall, 13% and 4% of pts in the CC-486 and PBO groups discontinued Tx due to AEs. Conclusions: In QUAZAR AML-001, CC-486 was generally well tolerated in all age groups, including elderly pts aged ≥ 75 yrs. Clinical trial information: NCT01757535 . [Table: see text]

Identification of Specific Modules and Hub microRNAs Related to Osteosarcoma by Weighted microRNA Co-Expression Network Analysis

2021 ◽  
Vol 11 (4) ◽  
pp. 619-670
Author(s):  
Mei Hanying ◽  
Yueling Zhao ◽  
Na Suo
Keyword(s):  
Network Analysis ◽  
Target Genes ◽  
Enrichment Analysis ◽  
Functional Enrichment Analysis ◽  
Functional Enrichment ◽  
High Morbidity ◽  
Clear Understanding ◽  
Therapeutic Approaches ◽  
New Therapeutic Approaches ◽  
New Biomarkers

Osteosarcoma (OS) is a malignant tumor with high morbidity and poor prognosis, especially for patients with metastasis. New therapeutic approaches are extremely needed. MicroRNAs can affect manykey biological processes, including the development and progression of complex diseases, such as OS. Here we identified specific modules and hub microRNAs related to OS through weighted gene co-expression network analysis (WGCNA). A module consisting of 72 microRNAs were found to be highly related to OS and 22 of them have been reported as deregulatedmicroRNAs in OS patients which play a role in OS tumorigenesis, development or prognosis. Then the target genes of the microRNAs were predicted and the functional enrichment analysis was performed on these genes. This study will provide a more clear understanding for facilitating the characterization and identification of new biomarkers and treatment for patients with OS by targeted miRNA.

Expanded Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(14;15): Report and Review of the Literature

2019 ◽  
Vol 159 (3) ◽  
pp. 109-118
Author(s):  
Anastasios Xefteris ◽  
Eleni Sekerli ◽  
Antonia Arampatzi ◽  
Sofia Charisiou ◽  
Eirini Oikonomidou ◽  
...  
Keyword(s):  
De Novo ◽  
Heart Defects ◽  
Prader Willi Syndrome ◽  
Review Of The Literature ◽  
Ear Malformations ◽  
Combination Of Methods ◽  
Atypical Feature ◽  
Severe Retardation ◽  
De Novo Translocation ◽  
Tendon Reflexes

In the present study, we report a case of a female infant with a de novo unbalanced t(14;15) translocation resulting in a 14-Mb deletion of the 15q11.1q14 region. The deletion includes the 15q11.2q13 Prader-Willi syndrome (PWS) critical region, while no known deleted genes are found in the 14qter region. According to literature review, patients with similar or larger deletions in the 15q region exhibit an expanded phenotype of PWS with case-specific atypical features such as severe retardation, absence of speech, microcephaly, retrognathia, bifid uvula, ear malformations, and heart defects in addition to typical features of PWS. Our proband exhibited increased deep tendon reflexes, an atypical feature which is not reported in the reviewed literature. The severity of the phenotype is not directly associated with the size of the deletion; however, using a combination of methods, the identification of breakpoints and the deleted genes can be helpful for the prognostication in patients with atypical PWS deletions.

Normal subchondral high T2 signal on MRI mimicking sacroiliitis in children: frequency, age distribution, and relationship to skeletal maturity

2020 ◽  
Author(s):  
Nele Herregods ◽  
Lennart B. O. Jans ◽  
Min Chen ◽  
Joel Paschke ◽  
Stefanie L. De Buyser ◽  
...  
Keyword(s):  
Skeletal Maturity ◽  
Age Distribution

AML with 11q23/MLL abnormalities as defined by the WHO classification: incidence, partner chromosomes, FAB subtype, age distribution, and prognostic impact in an unselected series of 1897 cytogenetically analyzed AML cases

Blood ◽  
2003 ◽  
Vol 102 (7) ◽  
pp. 2395-2402 ◽  
Author(s):  
Claudia Schoch ◽  
Susanne Schnittger ◽  
Mirjam Klaus ◽  
Wolfgang Kern ◽  
Wolfgang Hiddemann ◽  
...  
Keyword(s):  
Who Classification ◽  
De Novo ◽  
Age Distribution ◽  
Prognostic Impact ◽  
Monocytic Differentiation ◽  
Dismal Prognosis ◽  
Genetic Abnormalities ◽  
De Novo Aml ◽  
11Q23 Abnormalities ◽  
French American British

Abstract Acute myeloid leukemia (AML) cases with 11q23 abnormalities involving the MLL gene comprise one category of recurring genetic abnormalities in the WHO classification. In an unselected series of 1897 AML cases, 54 patients with an 11q23/MLL rearrangement were identified, resulting in an incidence of 2.8%. The incidence of AML with MLL rearrangement was significantly higher in therapy-related AML (t-AML) than in de novo AML (9.4% vs 2.6%, P &lt; .0001). The frequency of MLL rearrangements was significantly higher in patients younger than 60 years (5.3% vs 0.8%, P &lt; .0001). While the incidence of MLL rearrangements in AML M4, M5a, and M5b was 4.7%, 33.3%, and 15.9%, respectively, it was found in only 0.9% of all other French-American-British (FAB) subtypes (P &lt; .0001). Compared with AML with intermediate karyotype, AML with 11q23/MLL rearrangement had a worse outcome, which was rather comparable with AML with unfavorable karyotype. Compared with t-AML, the median overall survival (OS) of de novo AML with MLL rearrangement was significantly better (2.5 vs 10 months, P = .0143). No significant differences in median OS were observed between cases with t(9;11) compared with all other MLL rearrangements (10.0 vs 8.9 months, P = .36). In conclusion, the category AML with 11q23/MLL abnormalities accounts for 2.8% of unselected AML, is closely associated with monocytic differentiation, and has a dismal prognosis. (Blood. 2003;102:2395-2402)

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