Brain Structural Signature of RFC1 ‐Related Disorder

Epilepsy with Myoclonic Absence in a Patient with COL4A1-Related Disorder: A Case Report

Neuropediatrics ◽

10.1055/s-0038-1653928 ◽

2018 ◽

Vol 49 (S 01) ◽

pp. S1-S12

Author(s):

E. Nicolai ◽

C. Gobert ◽

Y. Snazjer ◽

P. Clapuyt ◽

M. Nassogne ◽

...

Keyword(s):

Case Report ◽

Related Disorder

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Understanding hypochondriasis: a novel twin study model of potential causal relationships with anxiety and oc-related disorder symptoms

10.26226/morressier.5785edcfd462b80296c99f3c ◽

2016 ◽

Author(s):

Clara Lopez-Sola

Keyword(s):

Twin Study ◽

Causal Relationships ◽

Related Disorder

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Effectiveness of Ayurvedic intervention in Primary Open Angle Glaucoma (Kaphaja Adhimantha) - A Case Study

Journal of Ayurveda and Integrated Medical Sciences (JAIMS) ◽

10.21760/jaims.v3i4.13314 ◽

2018 ◽

Vol 3 (4) ◽

Author(s):

Dr. Ratheesh P. ◽

Dr. Abhayadev A. ◽

Dr. Varsha Sumedhan ◽

Dr. Meghna P P. ◽

Dr. Srinivasan M ◽

...

Keyword(s):

Visual Field ◽

Structural Changes ◽

Primary Open Angle Glaucoma ◽

Open Angle Glaucoma ◽

Treatment Protocol ◽

Clinical Findings ◽

Field Analysis ◽

Open Angle ◽

Remarkable Change ◽

Related Disorder

Glaucoma is a diverse group of disorders affecting the eye with a common characteristic potentially progressive optic neuropathy that is determined by both structural changes and functional deficit in which IOP is a key modifiable factor. In Primary Open Angle Glaucoma (POAG), IOP independent mechanisms of glaucomatous nerve damage and visual field loss with unobstructed angle of anterior chamber is observed. The patient has reported gradual diminution of peripheral aspect of visual field (Rt. eye - 6/12 and Lt. eye - 6/12 on Snellen’s distant vision chart) in both eyes for 2 years. There was marked peripheral field defect on both confrontation test and perimetry visual field analysis test. The disease shows clinical similarity with Kaphaja Adhimantha, a disease affecting the whole eye mentioned in Susruta Samhita and Ashtanga Hrudaya. It is a chronic disease comes under life style related disorder. Dukhena Roopam Pasyathi (distorted image or constricted visual field), Sirodukha (headache), Srava (watering), Kandu (itching), Pamsupoornatha (foreign body sensation), Aviladarsana (diminished vision) and Gourava (heaviness of eye and head) are the clinical findings explained in the context of Kaphaja Adhimantha. These clinical finding mentioned in classical literature shows resemblance with POAG. The meticulous deployment of kaphaja Abhisyandha- Adhimantha treatment protocol can be used to prevent the progression of ganglionic damage and preservation of eye sight. The logical interpretation on the basis of both subjective and objective clinical findings concluded the diagnosis as Kaphaja Adhimantha and treatment principle adopted was Apatharpana, Kaphahara, Abhisyandhahara and Srothovisodhana. After treatment his vision has improved as 6/6 (Rt. Eye) and 6/6 (Lt. Eye) and remarkable change in field analysis. The study discusses about the effectiveness of Ayurvedic management in POAG.

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Comparison of Genetic Variants and Manifestations of OTUD6B-Related Disorder: The First Mexican Case

Journal of Investigative Medicine High Impact Case Reports ◽

10.1177/2324709620957777 ◽

2020 ◽

Vol 8 ◽

pp. 232470962095777 ◽

Cited By ~ 1

Author(s):

Maria Elena Romero-Ibarguengoitia ◽

Consuelo Cantú-Reyna ◽

Dalia Gutierrez-González ◽

Héctor Cruz-Camino ◽

Arnulfo González-Cantú ◽

...

Keyword(s):

Intellectual Disability ◽

Genetic Variants ◽

Therapeutic Approaches ◽

Multisystem Disorder ◽

Related Disorder ◽

Dysmorphic Features ◽

The Third ◽

The Central Nervous System ◽

Mexican Patient

The intellectual disability syndrome characterized by seizures and dysmorphic features was initially described in 2017 and was associated with genetic variants in the OTUD6B gene, identified by exome sequencing (ES) in a large cohort. This multisystem disorder primarily affects the central nervous system, the gastrointestinal, and the skeletal systems. In this article, we describe the first Mexican patient diagnosed by ES. The homozygous c.433C>T (p.Arg145*) variant of the OTUD6B gene confirmed this intellectual disability syndrome. In addition to seizures and other more frequently reported manifestations of this condition, this is the third patient with associated hypothyroidism and hypogammaglobulinemia, underscoring the value of screening for these conditions in other patients. The current challenge with this patient is to ensure medical management of his seizures and provide him with a better quality of life. The possibilities of additional therapeutic approaches may increase by understanding the physiopathology of the involved pathways.

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Environmental enrichment prevents the late effect of acute stress-induced fear extinction deficit: the role of hippocampal AMPA-GluA1 phosphorylation

Translational Psychiatry ◽

10.1038/s41398-020-01140-6 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Leonardo Santana Novaes ◽

Letícia Morais Bueno-de-Camargo ◽

Carolina Demarchi Munhoz

Keyword(s):

Environmental Enrichment ◽

Basolateral Amygdala ◽

Acute Stress ◽

Fear Memory ◽

Fear Extinction ◽

Post Traumatic Stress ◽

Related Disorder ◽

Memory Extinction ◽

Post Traumatic

AbstractThe persistence of anxiety and the deficit of fear memory extinction are both phenomena related to the symptoms of a trauma-related disorder, such as post-traumatic stress disorder (PTSD). Recently we have shown that single acute restraint stress (2 h) in rats induces a late anxiety-related behavior (observed ten days after stress), whereas, in the present work, we found that the same stress impaired fear extinction in animals conditioned ten days after stress. Fourteen days of environmental enrichment (EE) prevented the deleterious effect of stress on fear memory extinction. Additionally, we observed that EE prevented the stress-induced increase in AMPA receptor GluA1 subunit phosphorylation in the hippocampus, but not in the basolateral amygdala complex and the frontal cortex, indicating a potential mechanism by which it exerts its protective effect against the stress-induced behavioral outcome.

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Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

European Journal of Human Genetics ◽

10.1038/s41431-020-00769-7 ◽

2021 ◽

Author(s):

Meena Balasubramanian ◽

Alexander J. M. Dingemans ◽

Shadi Albaba ◽

Ruth Richardson ◽

Thabo M. Yates ◽

...

Keyword(s):

Intellectual Disability ◽

Protein Function ◽

Autism Spectrum ◽

Loss Of Function ◽

Mild Intellectual Disability ◽

Related Disorder ◽

Feeding Difficulties ◽

Facial Phenotype ◽

Novel Variants ◽

Common Behaviour

AbstractWitteveen-Kolk syndrome (OMIM 613406) is a recently defined neurodevelopmental syndrome caused by heterozygous loss-of-function variants in SIN3A. We define the clinical and neurodevelopmental phenotypes related to SIN3A-haploinsufficiency in 28 unreported patients. Patients with SIN3A variants adversely affecting protein function have mild intellectual disability, growth and feeding difficulties. Involvement of a multidisciplinary team including a geneticist, paediatrician and neurologist should be considered in managing these patients. Patients described here were identified through a combination of clinical evaluation and gene matching strategies (GeneMatcher and Decipher). All patients consented to participate in this study. Mean age of this cohort was 8.2 years (17 males, 11 females). Out of 16 patients ≥ 8 years old assessed, eight (50%) had mild intellectual disability (ID), four had moderate ID (22%), and one had severe ID (6%). Four (25%) did not have any cognitive impairment. Other neurological symptoms such as seizures (4/28) and hypotonia (12/28) were common. Behaviour problems were reported in a minority. In patients ≥2 years, three were diagnosed with Autism Spectrum Disorder (ASD) and four with Attention Deficit Hyperactivity Disorder (ADHD). We report 27 novel variants and one previously reported variant. 24 were truncating variants; three were missense variants and one large in-frame gain including exons 10–12.

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