scholarly journals Natural History of Untreated Retinoblastoma

Cancers ◽  
2021 ◽  
Vol 13 (15) ◽  
pp. 3646
Author(s):  
Junyang Zhao ◽  
Zhaoxun Feng ◽  
Brenda L. Gallie
Keyword(s):  
Natural History ◽  
Brain Metastasis ◽  
Multiple Factors ◽  
Real World Evidence ◽  
Systemic Metastasis ◽  
Life Threatening ◽  
History Of ◽  
Treatment Abandonment ◽  
Orbital Disease ◽  
Radiologic Evidence

Treatment abandonment is a leading cause of death in children with retinoblastoma worldwide. We studied children who abandoned treatment upfront at diagnosis to delineate the natural history of untreated retinoblastoma. Studied were children who received no treatment, diagnosed between 2007 and 2017 at 29 Chinese centers. Data were retrospectively collected from medical chart reviews and interviews with each patient’s family. During the study period, 44 children received no treatment after diagnosis of retinoblastoma. Clinical or radiologic evidence of orbital extension was available for 25 children, and radiologic evidence of systemic metastasis was available for 12 children. Median times from diagnosis of intraocular tumor to orbital disease was 13.7 months, orbital disease to metastasis was 2.6 months, and metastasis to death was 2.0 months. Children with brain metastasis had shorter survival than those with metastasis to other sites (median 1.0 vs. 3.1 months; p = 0.015). Overall, 36% of patients died within 12 months of diagnosis, 77% within 24 months, 95% within 36 months and 100% within 48 months. While multiple factors influence refusal of treatment, insights into the natural history of retinoblastoma derived from real-world evidence can inform clinicians and parents that retinoblastoma is life-threatening and encourage urgent treatment at diagnosis.

The case for family screening for intracranial aneurysms

2011 ◽  
Vol 31 (6) ◽  
pp. E8 ◽  
Author(s):  
Nohra Chalouhi ◽  
Rohan Chitale ◽  
Pascal Jabbour ◽  
Stavropoula Tjoumakaris ◽  
Aaron S. Dumont ◽  
...  
Keyword(s):  
Risk Factors ◽  
Subarachnoid Hemorrhage ◽  
Natural History ◽  
Intracranial Aneurysms ◽  
Family Screening ◽  
Multiple Factors ◽  
History Of ◽  
The Cost ◽  
Familial Aneurysms ◽  
Risk Of Treatment

Given that relatives of patients with intracranial aneurysms (IAs) or subarachnoid hemorrhage have a greater risk of harboring an aneurysm, family screening has become a common practice in neurosurgery. Unclear data exist regarding who should be screened and at what age and interval screening should occur. Multiple factors including the natural history of IAs, the risk of treatment, the cost of screening, and the psychosocial impact of finding an aneurysm should be taken into account when family screening is considered. In this paper, the authors review the current literature regarding risk factors and natural history of sporadic and familial aneurysms. Based on these data the authors assess current recommendations for screening and propose their own recommendations.

Adult Presentation of a Familial-Associated Vein of Galen Aneurysmal Malformation: Case Report

Neurosurgery ◽  
2010 ◽  
Vol 67 (6) ◽  
pp. E1845-E1851 ◽  
Author(s):  
David S Xu ◽  
Asad A Usman ◽  
Michael C Hurley ◽  
Christopher S Eddleman ◽  
Bernard R Bendok
Keyword(s):  
Case Report ◽  
Natural History ◽  
Vein Of Galen ◽  
Review Of The Literature ◽  
Time Resolved ◽  
Presenting Symptoms ◽  
First Case ◽  
Life Threatening ◽  
History Of ◽  
Asymptomatic Adult

Abstract BACKGROUND AND IMPORTANCE: Vein of Galen aneurysmal malformations (VGAMs) arise from persistent arteriovenous shunting from primitive choroidal vessels into the median prosencephalic vein of Markowski, the embryonic precursor of the vein of Galen. VGAMs rarely present past infancy, and their natural history in adults is unknown. We report the first case of a familial-associated VGAM in an asymptomatic adult female patient. The clinical features of this case are presented alongside a systematic review of the literature on adult VGAM cases to assess the natural history, clinical management, and genetic basis of this rare neurovascular lesion. CLINICAL PRESENTATION: A previously healthy 44-year-old woman with a family history of a VGAM in a stillborn presented with an 8-week onset of dizziness and vertigo that spontaneously resolved. Time-resolved magnetic resonance angiography identified a choroidal VGAM. No intervention was undertaken at this time because of the patient's asymptomatic status after 9 months of follow-up. CONCLUSION: Based on our review of the literature, this is the first case report of a familial-associated VGAM in an adult patient and suggests that VGAM development can be genetically linked. Of 15 adult VGAM cases previously reported, all patients were either symptomatic or treated, thus precluding determination of VGAM natural history in adults. Patient outcomes correlated with the severity of presenting symptoms, which ranged from asymptomatic to immediately life-threatening. We hypothesize that self-selection may render VGAMs to be more benign for them to persist past childhood. Further investigation of the molecular biology underlying VGAM development is warranted.

Uniform Approach Better Defines Natural History of Transient Myeloproliferative Disorder (TMD) in Down Syndrome (DS) Neonates: Outcomes from Children’ Oncology Group (COG) Study A2971.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 376-376
Author(s):  
Mukta Sharma ◽  
Todd A. Alonzo ◽  
April Sorrell ◽  
Robert B. Gerbing ◽  
Joanne M. Hilden ◽  
...  
Keyword(s):  
Bone Marrow ◽  
High Risk ◽  
Natural History ◽  
Median Time ◽  
Hepatic Dysfunction ◽  
Risk Groups ◽  
Spontaneous Resolution ◽  
Life Threatening ◽  
History Of ◽  
Bone Marrow Blasts

Abstract TMD is solely found in DS infants in the first few months of life & is distinguished from congenital AML primarily by its spontaneous resolution. A2971, the largest study of TMD conducted to date, defines the natural history of this disorder by utilizing uniform observation & treatment guidelines. A total of 136 DS patients (pts) <90 days (d) of age were enrolled from 1999–2004 with median follow-up of 745d(0–2187). Pts were assigned to observation(n=110) or intervention(n=26) arms based upon clinical severity. Median age at diagnosis was 5d(0–58) with median hematologic values of WBC 32,800(4,800 – 259,100), hemoglobin 15(5–22.5), platelets 125K(10–958K), peripheral blasts 25%(0–92) & bone marrow blasts 15%(0–95). Hepatomegaly (HM) was seen in 59%, splenomegaly in 39%, & pleural or pericardial effusion in 10% & 19%. Pts required intervention due to hyperviscosity(11%), blast count >100,000/μl(25%), organomegaly(OM) with respiratory(resp) compromise(43%), CHF(11%), hydrops fetalis(21%), liver dysfunction(43%), renal dysfunction(14%), or DIC(25%). For pts who required intervention(n=29, 21%), 9 pts(31%) received leukopheresis/exchange transfusion (Leuk/Exch). 26(90%) pts received low-dose AraC (3.33 mg/kg/24 hrs continuous infusion on days 0–4) for OM, organ dysfunction causing resp compromise, or continued symptoms after Leuk/Exch. Among all pts, 3-year overall survival(OS) was 77 ± 8% & event-free survival(EFS) was 73 ± 9%. 28 deaths were noted (15 related, 12 unrelated to TMD or therapy, 1 unknown). Median time to TMD resolution (defined as resolution of peripheral/ bone marrow blasts, OM, effusions & organ dysfunction) was 46d(7–757). Peripheral blast resolution was attained in a median of 35d (2–147). To date, 16 pts (12%), including 4 treated with AraC, developed AML/MDS at a median time of 355d(118–888). We identified 3 distinct groups of TMD pts: low risk (without palpable HM or hepatic dysfunction, n=52, 38%), intermediate risk (HM with non-life threatening hepatic dysfunction, n=55, 40%), & high risk (WBC>100K or life threatening cardio-resp compromise due to TMD, n=29, 21%). The OS for low, intermediate & high risk groups was 92 ± 8%, 82 ± 11% & 49 ± 20% and EFS was 83 ± 11%, 64 ± 15% & 36 ± 19%, respectively(p<0.001 for low vs high & intermediate vs high risk groups for OS & EFS). WBC >100K (Hazards Ratio-HR 3.57, p=0.004) & presence of hepatomegaly (HR 3.6, p=0.009) were significant adverse risk factors for OS in univariate analyses. This study confirms that most TMD pts undergo spontaneous resolution of disease without intervention, further clarifies the natural history of TMD, & provides baseline comparisons for upcoming COG trials.

The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: a review

2018 ◽  
Vol 29 (3) ◽  
pp. 295-301 ◽  
Author(s):  
Denise L. Chan ◽  
Tessa Calder ◽  
John A. Lawson ◽  
David Mowat ◽  
Sean E. Kennedy
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Tuberous Sclerosis Complex ◽  
Obstructive Hydrocephalus ◽  
Growth Patterns ◽  
Imaging Characteristics ◽  
Life Threatening ◽  
History Of ◽  
Mtor Activity

AbstractTuberous sclerosis complex (TSC) is an auto-somal-dominant inherited condition with an incidence of approximately 1:6000 births, characterised by deregulated mTOR activity with multi-site hamartomas. Subependymal giant cell astrocytomas (SEGA) are one such hamartoma, affecting up to 24% of patients with TSC. Their intraventricular location may lead to life-threatening obstructive hydrocephalus. Current management is hampered by a lack of understanding regarding the natural history, behaviour and growth patterns of SEGA. We review the current literature to summarise what is known about SEGA in the following areas: (1) diagnostic criteria, (2) prevalence, (3) origin, (4) imaging characteristics, (5) growth rate, (6) genotype-phenotype correlation, (7) congenital SEGA and (8) SEGA as a marker of severity of other TSC manifestations.

scholarly journals Natural history of transient myeloproliferative disorder clinically diagnosed in Down syndrome neonates: a report from the Children's Oncology Group Study A2971

Blood ◽  
2011 ◽  
Vol 118 (26) ◽  
pp. 6752-6759 ◽  
Author(s):  
Alan S. Gamis ◽  
Todd A. Alonzo ◽  
Robert B. Gerbing ◽  
Joanne M. Hilden ◽  
April D. Sorrell ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Natural History ◽  
Trisomy 21 ◽  
Myeloid Leukemia ◽  
Clinical Findings ◽  
Myeloproliferative Disorder ◽  
Spontaneous Resolution ◽  
Transient Myeloproliferative Disorder ◽  
Life Threatening ◽  
History Of

Abstract Transient myeloproliferative disorder (TMD), restricted to newborns with trisomy 21, is a megakaryocytic leukemia that although lethal in some is distinguished by its spontaneous resolution. Later development of acute myeloid leukemia (AML) occurs in some. Prospective enrollment (n = 135) elucidated the natural history in Down syndrome (DS) patients diagnosed with TMD via the use of uniform monitoring and intervention guidelines. Prevalent at diagnosis were leukocytosis, peripheral blast exceeding marrow blast percentage, and hepatomegaly. Among those with life-threatening symptoms, most (n = 29/38; 76%) received intervention therapy until symptoms abated and then were monitored similarly. Organomegaly with cardiopulmonary compromise most frequently led to intervention (43%). Death occurred in 21% but only 10% were attributable to TMD (intervention vs observation patients: 13/14 vs 1/15 because of TMD). Among those solely observed, peripheral blasts and all other TMD symptoms cleared at a median of 36 and 49 days from diagnosis, respectively. On the basis of the diagnostic clinical findings of hepatomegaly with or without life-threatening symptoms, 3 groups were identified with differing survival: low risk with neither finding (38%), intermediate risk with hepatomegaly alone (40%), and high risk with both (21%; overall survival: 92% ± 8%, 77% ± 12%, and 51% ± 19%, respectively; P ≤ .001). Among all, AML subsequently occurred in 16% at a median of 441 days (range, 118-1085 days). The trial is registered at http://www.clinicaltrials.gov as NCT00003593.

Natural history of ventriculomegaly in adults: a cluster analysis

2020 ◽  
Vol 132 (3) ◽  
pp. 741-748 ◽  
Author(s):  
Claudia L. Craven ◽  
Roshini Ramkumar ◽  
Linda D’Antona ◽  
Simon D. Thompson ◽  
Lewis Thorne ◽  
...  
Keyword(s):  
Cluster Analysis ◽  
Natural History ◽  
Normal Pressure ◽  
Surgical Interventions ◽  
Presenting Symptoms ◽  
Symptomatic Group ◽  
Life Threatening ◽  
History Of ◽  
Indication For Treatment ◽  
Insight Into

OBJECTIVEChronic ventriculomegaly in the absence of raised intracranial pressure (ICP) is a known entity in adult hydrocephalus practice. The natural history and indication for treatment is, however, poorly defined. A highly heterogeneous group, some adults with ventriculomegaly are asymptomatic, while others have life-threatening deteriorations. The authors hypothesized that the various presentations can be subtyped and represent different stages of decompensation. A cluster analysis was performed on a cohort of patients with chronic ventriculomegaly with the aim of elucidating typical clinical characteristics and outcomes in chronic ventriculomegaly in adults.METHODSData were collected from 79 patients with chronic ventriculomegaly referred to a single center, including demographics, presenting symptoms, and 24-hour ICP monitoring (ICPM). A statistical cluster analysis was performed to determine the presence of subgroups.RESULTSFour main subgroups and one highly dissimilar group were identified. Patients with ventriculomegaly commonly have a perinatal event followed by one of four main presentations: 1) incidental ventriculomegaly with or without headache; 2) highly symptomatic presentation (including reduced consciousness) and raised ICP; 3) early presenting with symptoms of headache and nausea (with abnormal pulsatility); and 4) late presenting with features common to normal pressure hydrocephalus. Each symptomatic group has characteristic radiological features, ICPM, and responses to treatment.CONCLUSIONSCluster analysis has identified subgroups of adult patients with ventriculomegaly. Such groups may represent various degrees of decompensation. Surgical interventions may not be equally effective across the subgroups, presenting an avenue for further research. The identified subtypes provide further insight into the natural history of this lesser studied form of hydrocephalus.

Cavernous carotid aneurysms: to treat or not to treat?

2009 ◽  
Vol 26 (5) ◽  
pp. E4 ◽  
Author(s):  
Christopher S. Eddleman ◽  
Michael C. Hurley ◽  
Bernard R. Bendok ◽  
H. Hunt Batjer
Keyword(s):  
Natural History ◽  
Clinical Presentation ◽  
Cerebral Aneurysms ◽  
Expectant Management ◽  
Difficult Decision ◽  
Life Threatening ◽  
History Of ◽  
Carotid Aneurysms ◽  
Cavernous Carotid Aneurysms ◽  
Revascularization Procedures

Most cavernous carotid aneurysms (CCAs) are considered benign lesions, most often asymptomatic, and to have a natural history with a low risk of life-threatening complications. However, several conditions may exist in which treatment of these aneurysms should be considered. Several options are currently available regarding the management of CCAs with resultant good outcomes, namely expectant management, luminal preservation strategies with or without addressing the aneurysm directly, and Hunterian strategies with or without revascularization procedures. In this article, we discuss the sometimes difficult decision regarding whether to treat CCAs. We consider the natural history of several types of CCAs, the clinical presentation, the current modalities of CCA management and their outcomes to aid in the management of this heterogeneous group of cerebral aneurysms.

How is the moral stance related to the intentional stance and group thinking?

2020 ◽  
Vol 43 ◽  
Author(s):  
Hannes Rakoczy
Keyword(s):  
Natural History ◽  
Social Cognitive ◽  
Intentional Stance ◽  
Cognitive Capacities ◽  
Shared Intentionality ◽  
History Of ◽  
Group Thinking ◽  
Moral Stance

Abstract The natural history of our moral stance told here in this commentary reveals the close nexus of morality and basic social-cognitive capacities. Big mysteries about morality thus transform into smaller and more manageable ones. Here, I raise questions regarding the conceptual, ontogenetic, and evolutionary relations of the moral stance to the intentional and group stances and to shared intentionality.

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