heterogeneous condition
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2021 ◽  
Vol 12 ◽  
Author(s):  
Bernard Crespi

Autism is a highly heterogeneous condition, genetically and phenotypically. This diversity of causation and presentation has impeded its definition, recognition, assessment, and treatment. Current diagnostic criteria for autism involve two domains, restricted interests and repetitive behavior (RRBs) and social deficits, whose relationship remains unclear. I suggest that the large suite of traits associated with autism can be usefully conceptualized under the single rubric of “pattern,” a term that connects autism with basic brain and cognitive functions and structures its phenotypes within a single theoretical framework. Autism thus involves increases and enhancements to pattern perception, pattern recognition, pattern maintenance, pattern generation, pattern processing, and pattern seeking. RRBs result from increased and imbalanced pattern-related perception and cognition, and social alterations result in part from the usual lack of clear pattern in social interactions, combined with the interference of RRBs with social development. This framework has strong implications for assessment of social and non-social autism-related traits, personalized therapy, and priorities for research.


2021 ◽  
Author(s):  
Nikita Kanchan

In Wireless-Communication, quick increments of cell phones furthermore, the heterogeneous condition have expanded the prerequisite for extra spect-rum for information transmiss-ion. It is past the domain of imagination to allocate new bands to all networks, which is the explanation behind product-ive utilizat-ion of the adequately available spect-rum is the interest of the day. Cognitive-radio (CR) development is a promising response for compelling range use, where Cognitive-Radio devices, or optional clients (SUs), can keenly utilize void areas open in the authorized channels. Secondary-Users need to rapidly surrender the authorized channel and change to another available channel when they recognize the presence of the essential client. In any case, execution for the SU truly taints if constant channel exchanging happens. Likewise, taking the channel-turning choices subject to fresh rationale is certainly isn't sensible procedure in the brain empowered Cognitive-Radio networks (CRNs) where recognizing information isn't simply free and misguided at this point furthermore incorporates a huge vulnerability factor. We propose a Fuzzy-Logic Supportive System (FLSS) commonly oversees channel-choice and channel-changing to redesign general through-put of CRNs. Proposed plot decreases the SU channel-exchanging rate and channel-determination more adaptable. Assessment of execution is refined utilizing MATLAB Simulator. The results are promising in regards to the through-put and the num-ber of hand-offs subsequently, FLSS ends up being a fair candidate framework for SUs while making the judicious choices in Cognitive-Radio condition.


2020 ◽  
Vol 11 (SPL4) ◽  
pp. 2878-2883
Author(s):  
Ayushi Mishra ◽  
Monika Agrawal ◽  
Meena Kumari ◽  
Chandrashekhar Prajapati ◽  
Priyadarshini Tewari ◽  
...  

Type 2 diabetes mellitus (T2DM) is a heterogeneous condition and it is a metabolic illness brought about by high glucose, insulin opposition, or insulin lack. Diabetes can cause numerous genuine sicknesses, for example, visual impairment, kidney disappointment, coronary illness, disease and different genuine conditions. It is assessed that roughly 70% of individuals with pre-diabetes have a danger of creating type 2 diabetes. Since the hereditary foundation is probably not going to change, the event of type 2 diabetes can be decreased by altering way of life hazard factors, for example, heftiness, actual inertia, smoking, and liquor through essential avoidance. The points and destinations of the article are to discover the significance of essential avoidance of T2DM. Data was gathered from epidemiological examinations, clinical and drug preliminaries, and to advance mindfulness and interest in diabetes inside essential counteraction, and the plausibility of applying these mediations in asset limit nations from different distributed articles and books. The commonness of T2DM has expanded quickly during the most recent couple of many years around the world. All examinations upheld the significance of dietary alterations and way of life intercessions in the successful administration just as to forestall intricacies.


2020 ◽  
Author(s):  
Valerie Jacquemin ◽  
Mathieu Antoine ◽  
Sarah Duerinckx ◽  
Annick Massart ◽  
Julie Desir ◽  
...  

Abstract Congenital hydrocephalus is a potentially devastating, highly heterogeneous condition whose genetic subset remains incompletely known. We here report a consanguineous family where three fetuses presented with brain ventriculomegaly and limb contractures, and shared a very rare homozygous variant of KIDINS220, consisting of an in-frame deletion of three amino acids adjacent to the fourth transmembrane domain. Fetal brain imaging and autopsy showed major ventriculomegaly, reduced brain mass, and with no histomorphologic abnormalities. We demonstrate that binding of KIDINS220 to TrkA is diminished by the deletion mutation. This family is the second that associates a KIDINS220 genetic variant with human ventriculomegaly and limb contractures, validating causality of the gene and indicating TrkA as a likely mediator of the phenotype.


Author(s):  
Birsen Yılmaz ◽  
Makbule Gezmen Karadağ

AbstractObesity, a complex, multi-factor and heterogeneous condition, is thought to result from the interaction of environmental and genetic factors. Considering the result of adolescence obesity in adulthood, the role of genetic factors comes to the fore. Recently, many genome-wide association studies (GWAS) have been conducted and many loci associated with adiposity have been identified. In adolescents, the strongest association with obesity has been found in single nucleotide polymorphisms (SNP) in the FTO gene. Besides FTO, GWAS showed consistent effects between variants in MC4R, TMEM18, TNNI3K, SEC16B, GNPDA2, POMC and obesity. However, these variants may not have similar effects for all ethnic groups. Although recently genetic factors are considered to contribute to obesity, relatively little is known about the specific loci related to obesity and the mechanisms by which they cause obesity.


2020 ◽  
pp. 107815522096155
Author(s):  
Cédric Mahiat ◽  
Antoine Capes ◽  
Thierry Duprez ◽  
Nicolas Whenham ◽  
Lionel Duck ◽  
...  

Introduction Central diabetes insipidus is a heterogeneous condition characterized by decreased release of antidiuretic hormone by the neurohypophysis resulting in a urine concentration deficit with variable degrees of polyuria. The most common causes include idiopathic diabetes insipidus, tumors or infiltrative diseases, neurosurgery and trauma. Temozolomide is an oral DNA-alkylating agent capable of crossing the blood-brain barrier and used as chemotherapy primarily to treat glioblastoma and other brain cancers. Cases Two men (aged 38 and 54 years) suddenly developed polyuria and polydispsia approximately four weeks after the initiation of temozolomide for a glioblastoma. Plasma and urine parameters demonstrated the presence of a urinary concentration defect. Management The clinical and laboratory abnormalities completely resolved with intranasal desmopressin therapy, allowing the continuation of temozolomide. The disorder did not relapse after cessation of temozolomide and desmopressin and relapsed in one patient after rechallenge with temozolomide. Discussion Our report highlights the importance of a quick recognition of this exceptional complication, in order to initiate promptly treatment with desmopressin and to maintain therapy with temozolomide.


2020 ◽  
Vol 44 (5) ◽  
pp. 352-355
Author(s):  
Parul Singhal ◽  
Ritu Namdev ◽  
Heena Sarangal ◽  
Saurabh Narang

Idiopathic gingival fibromatosis (IGF) is a rare, genetically heterogeneous condition that is usually a part of syndrome or, rarely, an isolated disorder. It is characterized by a slowly progressive, non hemorrhagic, fibrous enlargement of keratinized gingiva which usually begins at the time of eruption of permanent dentition, however very few cases involving the primary teeth have been described in literature. Congenital gingival fibromatosis is very rare condition in which the gingival tissues become thickened and erupting teeth remain submerged beneath hyperplastic tissue masses. This case report discusses the rare case of congenital non syndromic idiopathic gingival fibromatosis in a two year old boy who reported with absence of teeth and incompetent lips. Gingivectomy was done using modified microdissection electrocautery needle to remove the excess gingival tissues. Excised tissue has been examined histologically. The patient was followed up for a period of one year and no recurrence was observed.


2020 ◽  
pp. 1-6

Abstract Background: Mental retardation has been recently called by the American Psychiatric Association “Intellectual disability”, despite that the World Health Organization is still using the term “Mental retardation” in its ICD-10 publication. It is a heterogeneous condition marked by generalized neurodevelopmental abnormalities associated with significant impairment in mental or intellectual functioning and adaptive behaviors that affect every day general living. Patients and methods: A comprehensive multi-factorial treatment approach was used to treat a boy with idiopathic (Moderate to severe) mental retardation who was uneducable with the main aim of making him more educable. Treatment courses included intramuscular citicoline, piracetam, cerebrolysin and oral pyritinol. Results: Treatment was successful in advancing the mental and cognitive functions of the patient and making the child perfectly educable. Conclusion: There is no single agent that is known to convert an educable mentally retarded child to perfectly educable. Idiopathic mental retardation is a heterogeneous condition and the use of multi-factorial therapeutic agents is suggested for its treatment.


2020 ◽  
pp. 1-13

Abstract Background: Cerebral palsy is a heterogeneous condition associated with a non-progressive lesion causing permanent disorder of movement with limited mobility and is generally associated with gross motor developmental delay. In moderate to severe cases of cerebral palsy, motor developmental milestones such as walking may never be achieved. Impaired cognition and delayed speech are also commonly seen. The aim of this paper is describing our illustrated experience with cerebral palsy with emphasis on treatment with multi-factorial therapies. Patients and methods: Seventeen patients with cerebral palsy are described in this paper including two female patients whose early treatment courses were included in previous publications and 15 new cases (11 males and 4 females) observed during seven months period (May-November, 2019). Their ages ranged from 10 months to 9 years. Ten patients had significant spasticity limiting their movements. All patients had developmental delay including delayed speech. Nine patients were unable to sit without support, including a patient with significant dystonia and a patient who could stand and walk with support but was unable to sit without support. Only two patients were able to walk alone, but slowly and with difficulty. Two patients had history of birth asphyxia and one patient had a genetic condition with 2 of his brothers being affected. The patients were treated based on our published experiences with individualized treatment plans providing a combination of various interventions including nutritional support, muscle relaxants, oral pyritinol, intramuscular piracetam, citicoline (oral and injectable), intramuscular cerebrolysin and intramuscular nandrolone decanoate. The aims of these therapies include overcoming spasticity, repairing the brain and improving its function and ultimately improving mobility and advancing development. Results: All patients experienced improvement in motor development without the occurrence of any side effect. However, it was not possible to document the details of treatments and follow-up for all patients, but it was possible to provide an illustrated demonstration of improvement in seven patients. Conclusion: Cerebral palsy is a heterogeneous condition and the emergence of a single therapeutic agent that offers a comprehensive effect to improve its manifestations is very unlikely is the near future. Therefore, the use of evidence-based multi-factorial therapies is advisable. Adequate muscle relaxation is vital to prevent the complications of contractures which appear to cause a progressive disability.


2020 ◽  
Author(s):  
Gareth Hynes ◽  
Ian D Pavord

Abstract Background Asthma is a common and potentially serious condition affecting 300 million people worldwide. For many years, we have relied on a one-size-fits-all approach to its management, using corticosteroids and bronchodilators for all symptomatic patients. However, with more recent advances, it has become clear that asthma is a heterogeneous condition with multiple different underlying pathways. Understanding the different subtypes will be a key to giving us the ability to intervene in a targeted way to personalize care for patients with asthma. Sources of data Key published literature, guidelines and trials from clinicaltrials.gov. Areas of agreement The most widely studied of these subtypes is T2 high eosinophilic asthma, for which there are an increasing number of biologic therapies available. T2 high asthma is associated with the cytokines interleukin (IL)-4, IL-5 and IL-13, for each of which biologics have been developed. Areas of controversy It is currently unclear which of the available biologics provides superior efficacy. It is also unclear how to select which biologic for which patient. Growing points Head-to-head trials of the available T2 biologics will be important to determine superiority, and a suggested order for trialling biologics. Going further than this, we would like to see further analyses of available biologics to allow us to predict responders from non-responders in advance of administering therapy. Areas timely for developing research Non-eosinophilic T2 low asthma is an area that is under-researched and for which there are few treatments available. It is likely that there are different subtypes in this category of asthma and unravelling what these are will be crucial to developing effective treatments.


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