Clinical-heterogeneity: Causes & Reasons

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Possible Causes for clinical heterogeneity

Leigh's Disease

They are clinically heterogeneous, can occur at any age, and generally manifest with a wide array of clinical symptoms, usually being defined as multisystem diseases. [neurohic.com]

This disorder has been proven to be clinically and genetically heterogeneous. [frontiersin.org]

CIII deficiencies are rare and manifest heterogeneous clinical presentations. [ncbi.nlm.nih.gov]

Common Cold

The team did not perform a summary meta-analysis due to clinical heterogeneity. No serious adverse event (AE) occurred in either the treatment or the control groups. [ncbi.nlm.nih.gov]

heterogeneity of the studies we refrained from pooling for the main analysis. [ncbi.nlm.nih.gov]

The phylogenetic diversity we describe at the whole-genome level is consistent with the clinical heterogeneity of HRV infections in humans ( 1, 3, 4 ), although mapping specific [ncbi.nlm.nih.gov]

Early-Onset Cerebellar Ataxia

The data suggest that EOCA may be genetically and clinically heterogeneous. [doi.org]

Clinical and genetic heterogeneity in early onset cerebellar ataxia with retained tendon reflexes. [doi.org]

Tricho-Dento-Osseous Syndrome

Clinical heterogeneity in the tricho-dento-osseous syndrome. Human Genetics, 64 (2), 116-121. [scholars.uthscsa.edu]

Clinical heterogeneity in the tricho-dento-osseous syndrome. / Quattromani, F.; Shapiro, S. D.; Young, R. S.; Jorgenson, R. J.; Parker, J. W.; Blumhardt, R.; Reece, R. [scholars.uthscsa.edu]

@article{f83bae0580714d76b86e1ff3cc5f55b3, title "Clinical heterogeneity in the tricho-dento-osseous syndrome", abstract "The tricho-dento-osseous syndrome (TDO syndrome) [scholars.uthscsa.edu]

Nemaline Myopathy

PURPOSE: Nemaline myopathy (NM) is a clinical heterogeneous congenital myopathy characterized by the presence of subsarcolemmal or cytoplasmic rod-like structures that call [ncbi.nlm.nih.gov]

Nemaline myopathy is a clinically heterogeneous congenital myopathy caused by mutations in at least 6 genes related to thin filaments. [ncbi.nlm.nih.gov]

Nemaline myopathy (NM) is a genetically and clinically heterogenous muscle disorder, which is myopathologically characterized by nemaline bodies. [ncbi.nlm.nih.gov]

Acute Bronchitis

These were clinically heterogeneous, so we used a random‐effects meta‐analysis. [doi.org]

clinical heterogeneity among trials (see Description of studies ). [doi.org]

Assessment of heterogeneity The studies included in this review were clinically heterogeneous and provided limited data, so we undertook no meta‐analysis. [doi.org]

Bronchitis

These were clinically heterogeneous, so we used a random‐effects meta‐analysis. [doi.org]

clinical heterogeneity among trials (see Description of studies ). [doi.org]

BACKGROUND: COPD is a heterogeneous disease composed by two main phenotypes: bronchitis (COPDb) and emphysema (COPDe) with different clinical presentation, physiology, imaging [ncbi.nlm.nih.gov]

Pure Hereditary Spastic Paraplegia

Hereditary spastic paraplegias (HSP) are genetically and clinically heterogeneous neurodegenerative disorders. [ncbi.nlm.nih.gov]

Abstract Hereditary spastic paraplegia is a clinically and genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs. [ncbi.nlm.nih.gov]

BACKGROUND: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous disorder characterized by a progressive weakening and spasticity of the lower [ncbi.nlm.nih.gov]

Hereditary Spastic Paraplegia

From Wikidata Jump to navigation Jump to search genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia [wikidata.org]

This case confirms the high genetic and clinical heterogeneity associated with SPG11 mutations. [ncbi.nlm.nih.gov]

Abstract AIM: Hereditary spastic paraplegia (HSP) are a genetically and clinically heterogeneous group of disorders. [ncbi.nlm.nih.gov]

Acute Gastroenteritis

There was significant heterogeneity among included studies with regards to their research question, study design, and baseline clinical characteristics (i.e., age) of the [frontiersin.org]

This finding highlights the importance of limiting the duration of IVR in children with AGE to the minimum required by promptly resuming ORT as soon as clinically appropriate [frontiersin.org]

Hoyeraal-Hreidarsson Syndrome

Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins. Pediatric Reports, 9 (3). [pagepress.org]

Mitochondrial DNA Depletion Syndrome

Homepage Rare diseases Search Search for a rare disease Mitochondrial DNA depletion syndrome Disease definition The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically [orpha.net]

Abstract Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are characterized by [ncbi.nlm.nih.gov]

Mitochondrial DNA depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterised by a quantitative reduction of the mitochondrial DNA [ncbi.nlm.nih.gov]

Generalized Epilepsy with Febrile Seizures Plus

The affected GEFS( ) patients in this family displayed significant inter-family clinical heterogeneity. [ncbi.nlm.nih.gov]

Vitamin B12 Deficiency

We did not perform meta-analyses due to the small number of included trials and substantial clinical heterogeneity. Three RCTs met our inclusion criteria. [ncbi.nlm.nih.gov]

We did not perform meta-analyses due to the small number of included trials and substantial clinical heterogeneity. Main results: Three RCTs met our inclusion criteria. [cochrane.org]

Upper Respiratory Infection

[…] contribute to clinical heterogeneity. [doi.org]

Assessment of heterogeneity The studies included in this review were clinically heterogeneous and provided limited data, so we undertook no meta‐analysis. [doi.org]

The included studies were inevitably clinically heterogeneous in many aspects. [bmj.com]

Progressive Supranuclear Palsy

heterogeneity in neurodegenerative disorders. [ncbi.nlm.nih.gov]

The present study also demonstrated that the clinical features of PSP may change dramatically according to the disease stage. [ncbi.nlm.nih.gov]

Our observations suggest that coexisting PSP pathology may be an important factor contributing to the clinical heterogeneity in PD and a potential confounder in diagnosis. [ncbi.nlm.nih.gov]

Acute Alcohol Intoxication

Clinical manifestations are heterogeneous and involve different organs and apparatuses, with behavioral, cardiac, gastrointestinal, pulmonary, neurological, and metabolic [ncbi.nlm.nih.gov]

Abstract Acute alcohol intoxication is a clinically harmful condition that usually follows the ingestion of a large amount of alcohol. [ncbi.nlm.nih.gov]

Leibowitz, Neurochemical Heterogeneity of Rats Predicted by Different Measures to be High Ethanol Consumers, Alcoholism: Clinical and Experimental Research, 37, s1, (E141- [doi.org]

Viral Lower Respiratory Infection

[…] than the exception in severe clinical presentations of infectious diseases. [pnas.org]

This hypothesis is in line with several recent publications ( 34 – 37 ), which suggest that incomplete penetrance and genetic heterogeneity are likely to be the rule rather [pnas.org]

Urinary Tract Infection

Assessment of heterogeneity As no studies were included, we were unable to assess clinical heterogeneity. [doi.org]

However, in light of the heterogeneity of clinical study designs and the lack of consensus regarding the dosage regimen and formulation to use, cranberry products cannot be [ncbi.nlm.nih.gov]

We compared trials to assess and investigate the likelihood of important clinical heterogeneity. [doi.org]

Viral Upper Respiratory Tract Infection

The included studies were inevitably clinically heterogeneous in many aspects. [bmj.com]

Vitamin D Deficiency

Generalized convulsions in the afebrile infant represent a serious and etiopathogenically very heterogeneous problem. [ncbi.nlm.nih.gov]

There were insufficient studies available to complete an analysis of publication bias; however, a search of clinical trials registries was completed to assess the number of [doi.org]

[…] given orally over a period of two weeks.The treatment resulted in complete stabilization of the infant's condition and rapid improvement in laboratory, radiological and clinical [ncbi.nlm.nih.gov]

Distal Spinal Muscular Atrophy

heterogeneities were observed in patients with the DCTN1 mutation. [ncbi.nlm.nih.gov]

However, clinical heterogeneities were observed between the present and previously reported patients. [spandidos-publications.com]

Abstract The distal hereditary motor neuropathies (distal HMN) are clinically and genetically heterogeneous and are subdivided in seven subtypes according to the mode of inheritance [ncbi.nlm.nih.gov]

Cerulean Cataract

Due to clinical heterogeneity, it is not always possible to classify specific families based on the appearance and natural history of the lens opacities alone. [disorders.eyes.arizona.edu]

About 23% are familial but even among these there is considerable genetic and clinical heterogeneity that confounds the nosology despite notable recent progress in genotyping [disorders.eyes.arizona.edu]

Mutations in the same gene also cause an allelic disorder designated nonnuclear polymorphic congenital cataracts or PCC ( 601286 ), which may simply be clinical heterogeneity [disorders.eyes.arizona.edu]

Constipation

Assessment of heterogeneity Clinical heterogeneity was assessed by comparing the distribution of important participant factors (age, sex) between trials and trial factors [doi.org]

Upon statistically significant heterogeneity, the included studies were examined for sources of both clinical and methodological heterogeneity. [dx.doi.org]

Where the interventions were the same or similar enough, we synthesized results in meta‐analysis if there was no important clinical heterogeneity. [doi.org]

Aggressive Systemic Mastocytosis

Mastocytosis is a clinically heterogenous disease characterized by mast cell hyperplasia in skin, bone marrow and/or visceral organs. [ncbi.nlm.nih.gov]

Lange M, Nedoszytko B, Gorska A, Zawrocki A, Sobjanek M, Kozlowski D.Mastocytosis in children and adults: clinical disease heterogeneity. [rarediseases.org]

[…] presentations are heterogeneous. [symptoma.com]

Maturity-Onset Diabetes of the Young

Maturity-onset diabetes of the young (MODY) is a clinically heterogeneous group of monogenic disorders characterized by autosomal dominant inheritance of young-onset, non-insulin-dependent [ncbi.nlm.nih.gov]

Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous type of diabetes mellitus, characterized by early onset (often before 25 years of [ncbi.nlm.nih.gov]

MODY (maturity-onset diabetes of the young) is a genetically linked group of clinically heterogeneous subtypes of diabetes. [ncbi.nlm.nih.gov]

Congenital Muscular Dystrophy

Congenital myasthenic syndrome shows a wide clinical heterogeneity. [ncbi.nlm.nih.gov]

Sequencing individual genes by Sanger sequencing is a time-consuming and costly approach to resolve clinically heterogeneous genetic disorders. [ncbi.nlm.nih.gov]

Congenital muscular dystrophies are a genetically and clinically heterogeneous group of disorders typically characterized by weakness and dystrophic pattern on muscle biopsy [dnatesting.uchicago.edu]

Acute Cystitis

Assessment of heterogeneity As no studies were included, we were unable to assess clinical heterogeneity. [doi.org]

heterogeneity between the trials; lack of presentation of baseline data so that comparability can be assessed; use of unvalidated outcome measures or reporting outcomes in [doi.org]

[…] efficacy and microbiological efficacy rates should not necessarily be compared across agents, because study design, efficacy definition, therapy duration, and other factors are heterogeneous [dx.doi.org]

Kallmann Syndrome

We describe herein the clinical heterogeneity in three affected brothers who carry a large deletion (exons 3-13) in KAL-1. [ncbi.nlm.nih.gov]

However, his mother and younger brother did not show clinical features of KS, potentially associated with the clinical heterogeneity of KS. [journals.lww.com]

heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene. 6 61 54 Massin N...Touraine P 12727945 2003 11 Loss-of-function mutations in FGFR1 cause [malacards.org]

Insect Bite

Abstract Primary immunodeficiency diseases (PID) is a heterogeneous group of disorders caused by genetic defects of the immune system, which manifests clinically as recurrent [ncbi.nlm.nih.gov]

Affiliate of the World Universities Network, New York, NY, United States. 12 Department of Paediatrics, Imperial College London, London, United Kingdom. 13 Solov'ev Research and Clinical [ncbi.nlm.nih.gov]