Heterogeneity: Causes & Reasons

Possible Causes for Heterogeneity

It is suggested that the Russell-Silver syndrome is heterogeneous and that the criteria for its diagnosis need re-evaluation. [ncbi.nlm.nih.gov]

Clinical presentation is heterogeneous in RSS patients with 11p15 ICR1 hypomethylation. [ncbi.nlm.nih.gov]

The case is another illustration of the genetic heterogeneity of Russell-Silver phenotype. [ncbi.nlm.nih.gov]

Common Cold

The very high heterogeneity means that the averaged estimates must be viewed with caution. [ncbi.nlm.nih.gov]

Heterogeneity was evaluated using the I 2 statistic. When substantial heterogeneity was found ( I 2 ≥ 40%), subgroup analyses were performed. [doi.org]

In addition, we aimed to identify potential sources of heterogeneity in results obtained and to assess their clinical significance. [ncbi.nlm.nih.gov]

Generalized Epilepsy with Febrile Seizures Plus

These results indicate further clinical and genetic heterogeneity in GEFS(+). [ncbi.nlm.nih.gov]

Abstract Generalized epilepsy with febrile seizures plus (GEFS+) is a recently recognized but relatively common form of inherited childhood-onset epilepsy with heterogeneous [ncbi.nlm.nih.gov]

Conclusion: These results indicate further clinical and genetic heterogeneity in GEFS +. Received December 6, 2000. Accepted May 24, 2001. [neurology.org]

Thyroid Lymphoma

Thyroid status is heterogeneous. Prognosis is poor despite polychemotherapy. [academic.oup.com]

And the heterogeneous enhancement pattern is also helpful for detecting necrosis areas of PTL. [ncbi.nlm.nih.gov]

All the MALT patients had diffuse heterogeneous hypoechoic parenchyma in sonography, but only one of them with diffuse large B cell lymphomas had diffuse heterogeneous hypoechoic [ncbi.nlm.nih.gov]

Breast Fibroadenolipoma

The most common sonographic findings of the hamartomas were an oval shape (16/16), circumscribed margins (10/16), heterogeneous internal echogenicity (14/16), echogenic (7 [ncbi.nlm.nih.gov]

There is presence of a large thin walled well defined encapsulated lesion with heterogeneous density in retroareolar region of right breast,extending to both outer and inner [sumerdoc.blogspot.com]

Sagittal dynamic contrast-enhanced MRI showed strong heterogeneous multilobular enhancing masses that resembled orange slices. [jbd.or.kr]

Pancreatoblastoma

[…] other hand, it is very rare in the adult population (2), and making a preoperative diagnosis of PB is challenging because of the limited roles of tumor markers and cellular heterogeneity [frontiersin.org]

All of the tumours had heterogeneous enhancement on CT and MR images. Pancreatoblastoma is a rare primary tumour of the pancreas. [ncbi.nlm.nih.gov]

Most had well-defined margins (nine of 10), were heterogeneous (nine of 10), and enhanced (10 of 10). [ncbi.nlm.nih.gov]

Hibernoma

MRI revealed that the lesion was heterogeneously hyperintense on T1W (lower in intensity than subcutaneous fat) and heterogeneously hypointense on fat-saturated T2W and STIR [ncbi.nlm.nih.gov]

Ultrasound Appearances have been described as heterogeneous hyperechoic lesions with prominent vessels 8. [radiopaedia.org]

It showed mild heterogeneous enhancement on the post-contrast fat-saturated T1 MR images due to increased vascularity. A biopsy of the lesion was performed. [ncbi.nlm.nih.gov]

Benign Adult Familial Myoclonic Epilepsy

Abstract Benign adult familial myoclonic epilepsy (BAFME) has been mapped to chromosome 8q24; however, genetic heterogeneity has been recently suggested. [ncbi.nlm.nih.gov]

Our observation confirms the existence of non-Japanese BAMFE families and the genetic heterogeneity of this syndrome. [moh-it.pure.elsevier.com]

This observation would confirm that BAFME is a worldwide, genetically heterogeneous condition, probably with Japanese families linked to 8q24 and European families to 2p11.1 [moh-it.pure.elsevier.com]

Benign Ovarian Neoplasm

T2 signal, and heterogeneous enhancement (Table 2). [ajronline.org]

After paramagnetic contrast administration it has only mild, diffuse and slight heterogeneous enhancement (less than myometrium) (Figs. 2e-f). [eurorad.org]

[…] may be the main source of heterogeneity (Table 2 and Fig. 8). [journals.plos.org]

Kohlschütter-Tönz Syndrome

The other families, mostly presenting with additional atypical features, were negative for ROGDI mutations, suggesting genetic heterogeneity of atypical forms of the disease [ncbi.nlm.nih.gov]

Brief Report Kohlschütter–Tönz Syndrome: Mutations in ROGDI and Evidence of Genetic Heterogeneity Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories [doi.org]

Astroblastoma

[…] appearance and heterogeneous enhancement of the solid component and with cystic changes HG Port et al. (2002) [ 5 ] 15; F Corpus callosum Solid and cystic mass with heterogeneous [dx.doi.org]

This case illustrates the potential poor outcome of high-grade astroblastoma and highlights the morphologic heterogeneity of this rare neoplasm. [ncbi.nlm.nih.gov]

Cranial magnetic resonance imaging revealed a right, occipito-temporal, voluminous, well-demarcated mass, hypointense heterogenous on T1-weighted images ( a ) with a strong [ncbi.nlm.nih.gov]

Suprasellar Tumor

Macroscopically, they appear as heterogeneous solid-cystic masses. [healio.com]

Coronal T1-postcontrast scan ( B ) reveals a heterogeneous pattern of enhancement. [ajnr.org]

Imaging investigation An MRI without contrast with magnified pituitary images showed a large 2.7 cm x 2.8 cm x 3.6 cm heterogeneous mass within in the suprasellar cistern [healio.com]

Distal Hereditary Motor Neuropathy Type 1

Distal hereditary motor neuronopathy (dHMN or HMN) is a heterogeneous group of neuromuscular disorders caused by anterior horn cell degeneration and characterized by progressive [ncbi.nlm.nih.gov]

Moon and Ji-Seon Kim and Chang Seok Ki}, year={2012} } Sang-Soo Lee, So-Young Moon, +1 author Chang Seok Ki Published 2012 Distal hereditary motor neuropathy (dHMN) is a heterogeneous [semanticscholar.org]

Chapters, 17.08.2013 - 1008 Seiten The inherited neuropathies are a clinically and genetically heterogeneous group of disorders in which there have been rapid advances in [books.google.de]

Dilated Cardiomyopathy Type 3B

Log out Cancel Abstract and Introduction Dilated cardiomyopathy (DCM) is a heterogeneous disorder that is familial in approximately 30% of cases. [medscape.com]

Rare diseases Search Search for a rare disease Familial isolated dilated cardiomyopathy Disease definition Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous [orpha.net]

Idiopathic DCM is a heterogeneous heart muscle disease that affects approximately 1 in 2500 persons;[2] however, the prevalence of DCM may be even higher because of incomplete [medscape.com]

Plasmablastic Lymphoma

The PBL-T tumor was genetically heterogeneous, despite being histologically quite homogeneous PBL. [ncbi.nlm.nih.gov]

Laboratory studies showed abnormal liver functions, and abdominal magnetic resonance imaging (MRI) showed a 76-mm heterogeneous mass in the liver. [ncbi.nlm.nih.gov]

Because of its rarity and heterogeneous presentations, PBL could easily be overlooked clinically and pathologically in immunocompetent patients. [ncbi.nlm.nih.gov]

Chronic Obstructive Pulmonary Disease

Again, results were heterogenous (I2 = 59%). [ncbi.nlm.nih.gov]

Bronchoscopic thermal vapour ablation therapy in the management of heterogeneous emphysema. [doi.org]

Again, results were heterogenous (I 2 = 59%). [doi.org]

Short QT Syndrome Type 1

Because of the heterogeneous phenotype of this disease, genetic testing is fundamental to detect individuals with concealed long QT syndrome. [revespcardiol.org]

Two further gain-of-function mutations in KvLQT1 and KCNJ2 confirmed genetic heterogeneity in this syndrome. [doi.org]

The term “early repolarization” (ER) has long been used to refer to a heterogeneous group of specific QRS‐T junction patterns that are commonly found on the electrocardiograms [doi.org]

Familial Infantile Myoclonic Epilepsy

Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity D BARALLE*, A M DEARLOVE†, R BEACH‡, C FFRENCH-CONSTANT*, E REID* *Department [jmg.bmj.com]

Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity D BARALLE *, A M DEARLOVE †, R BEACH ‡, C FFRENCH-CONSTANT *, E REID [jmg.bmj.com]

This study extends the phenotypic heterogeneity of mutations in SCN1A to include IS. Received January 13, 2003. Accepted May 29, 2003. [neurology.org]

@article{Cattaneo2007HeterogeneousMM, title={Heterogeneous molecular mechanisms underlie attenuated familial adenomatous polyposis}, author={Francesca Cattaneo and Sara Molatore [semanticscholar.org]

Abstract Purpose: Familial adenomatous polyposis is a phenotypically heterogeneous disease predisposing to colorectal cancer. [nature.com]

It is known to be a heterogeneous disease with varied responses to “one-size-fits-all” treatments. [books.google.com]

Diabetes Mellitus Type 2

Heterogeneity was also quantified with I 2 ( Higgins 2002 ), where I 2 values of 50% and more indicate a substantial level of heterogeneity ( Higgins 2003 ). [dx.doi.org]

The heterogeneity test was considered statistically significant if the p -value was under 0.1. Heterogeneity was considered high if the I 2 was above 50%. [dx.doi.org]

Assessment of heterogeneity In the event of substantial clinical, methodological or statistical heterogeneity, study results were not combined in meta‐analysis. [dx.doi.org]

Retroperitoneal Neoplasm

Figure 3 En bloc resection specimen of heterogeneous tumor with attached organs. [wjso.biomedcentral.com]

Brain image : Plexiform neurofibromas (PNFs) -- Multilobulated hyperintense masses with central hypointense "dots" are typical Mature teratoma --- well-defined heterogeneous [slideshare.net]

Diffuse Lymphoma

next-generation sequencing cancer genetics cancer heterogeneity Footnotes Author contributions: J. [pnas.org]

The sequences of both the FCL and the refractory DLCL remained heterogeneous. [ncbi.nlm.nih.gov]

However, this masks considerable heterogeneity of outcome. [hmds.info]

Wolcott-Rallison Syndrome

[…] between this variant form of WRS and EIF2AK3 WRS correlates with some clinical heterogeneity. [ncbi.nlm.nih.gov]

Wolcott-Rallison syndrome: Clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. [indiana.pure.elsevier.com]

[…] between this variant form of WRS and EIF2AK3 WRS correlates with some clinical heterogeneity. ...read moreread less TL;DR: Wolcott-Rallison syndrome is a rare autosomal recessive [typeset.io]

Omental Infarction

[…] fat density lesion with rim enhancement); type 3 (well-defined heterogeneous lesion with fat component); and type 4 (well-defined heterogeneous lesion without a fat component [ncbi.nlm.nih.gov]

Heterogeneous, encapsulated mass located within omentum (usually in right lower quadrant) – Surrounding inflammatory change and fat stranding ± small free fluid Variable attenuation [clinicalgate.com]

The initial CT appearance of omental infarctions were categorized into the following four types: type 1 (ill-defined, heterogeneous, fat density lesion); type 2 (well-defined [ncbi.nlm.nih.gov]

Progressive Myoclonic Epilepsy Type 8

In spite of this remarkable allelic heterogeneity, the R241stop EPM2A mutation was found in approximately 40% of the Lafora disease patients. [nature.com]

The Orphanet rare disease nomenclature is comprised of a heterogeneous typology of entities of decreasing extension, including: groups of disorders, disorders, sub-types. [orpha.net]

Homogeneity and heterogeneity lod scores are shown. [jmg.bmj.com]

Central Nervous System Primitive Neuroectodermal Tumor

Integrative genomics reveals molecular and clinical heterogeneity in central nervous system primitive neuroectodermal tumors in children. [tp.amegroups.com]

Some classifications have been studied to organize the heterogeneity of glioblastoma. [thenerve.net]

[…] as a large irregular mass typically iso to hyper-attenuating on non-contrast imaging 7 cystic components are common (≈65% 6 ) calcification can be common (≈70% 6 ) shows heterogeneous [radiopaedia.org]

Pilomyxoid Astrocytoma

T1-weighted magnetic resonance imaging with contrast medium showed a heterogeneously enhanced tumor in the right cerebellum with severe hydrocephalus. [ncbi.nlm.nih.gov]

Sagittal contrast-enhanced T 1 weighted shows the lesion enhanced heterogeneously by the gadolinium (d). [birpublications.org]

Ten (48%) tumors showed heterogeneous rim enhancement, 9 (43%) showed uniform enhancement, and 2 (9%) showed no enhancement. [ncbi.nlm.nih.gov]

Distal Spinal Muscular Atrophy Type 4

Abstract Lower motor neuron diseases (LMNDs) include a large spectrum of clinically and genetically heterogeneous disorders. [ncbi.nlm.nih.gov]

Najimi, Mustapha [UCL] Sokal, Etienne [UCL] Dumoulin, Christine [UCL] [show all] Lower motor neuron diseases (LMNDs) include a large spectrum of clinically and genetically heterogeneous [dial.uclouvain.be]

Tooth in 1886, it became apparent that this syndrome is clinically and genetically heterogeneous. [molgen.ua.ac.be]

Autosomal Recessive Deafness 42

The challenges of hearing loss, an extremely heterogeneous impairment, are addressed. [books.google.com]

Autosomal recessive prelingual deafness is known to be genetically highly heterogeneous. [cags.org.ae]

Founder effects were demonstrated for some recurrent mutations but the most significant findings are the extreme locus and allelic heterogeneity and different spectrum of [ncbi.nlm.nih.gov]

Infantile-Onset Ascending Hereditary Spastic Paralysis

This case adds to the allelic heterogeneity of IAHSP. [ncbi.nlm.nih.gov]

In the six remaining families, absence of cDNA ALS2 mutations suggests either mutations in regulatory ALS2 regions or genetic heterogeneity, as already reported in JPLS. [ncbi.nlm.nih.gov]

Conclusions: This case adds to the allelic heterogeneity of IAHSP. [eprints.uniss.it]