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About 8,648 results

ALLMedicine™ Mental Retardation Center

Research & Reviews  2,941 results

X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies nove...
https://doi.org/10.1002/mgg3.2034
Molecular Genetics & Genomic Medicine; Shakarami F, Jahani M et. al.

Aug 14th, 2022 - X-linked mental retardation-hypotonic facies syndrome-1 (MRXFH1), caused by a mutation in the ATRX gene, is a rare syndromic form of X-linked mental retardation (XLMR) that is mainly characterized by severe intellectual disability, dysmorphic faci...

Preoperative assessment of microvessel density in nonfunctioning pancreatic neuroendocr...
https://doi.org/10.1016/j.surg.2022.06.017
Surgery Battistella A, Partelli S et. al.

Aug 12th, 2022 - Hypervascularization is a typical feature of pancreatic neuroendocrine tumors, and it frequently allows their recognition at imaging studies. However, the density of microvessels in pancreatic neuroendocrine tumors changes according to their biolo...

The Effect of Nursing Empowerment Program
https://clinicaltrials.gov/ct2/show/NCT05497050

Aug 11th, 2022 - Phenylketonuria is a disorder of phenylalanine metabolism and causes intellectual destruction if left untreated. It is an autosomal recessive metabolic disease that develops as a result of the absence of the enzyme phenylalanine hydroxylase (FAH),...

The chromatin remodeling protein ATRX positively regulates IRF3-dependent type I interf...
https://doi.org/10.1371/journal.ppat.1010748
PLoS Pathogens; Stilp AC, Scherer M et. al.

Aug 9th, 2022 - The chromatin remodeling protein alpha thalassemia/mental retardation syndrome X-linked (ATRX) is a component of promyelocytic leukemia nuclear bodies (PML-NBs) and thereby mediates intrinsic immunity against several viruses including human cytome...

Study of Smith-Lemli-Opitz Syndrome
https://clinicaltrials.gov/ct2/show/NCT00001721

Aug 9th, 2022 - Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital anomaly/mental retardation syndrome. Typical clinical features include a distinctive facial appearance, mental retardation, autistic behavior, hypotonia, failure to fe...

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Guidelines  2 results

No. 240-Cytomegalovirus Infection in Pregnancy.
https://doi.org/10.1016/j.jogc.2017.11.018
Journal of Obstetrics and Gynaecology Canada : JOGC = Jou... Yinon Y, Farine D et. al.

Feb 16th, 2018 - To review the principles of prenatal diagnosis of congenital cytomegalovirus (CMV) infection and to describe the outcomes of the affected pregnancies. Effective management of fetal infection following primary and secondary maternal CMV infection d...

Practice parameter: Evaluation of the child with microcephaly (an evidence-based review...
https://doi.org/10.1212/WNL.0b013e3181b783f7
Neurology Ashwal S, Michelson D et. al.

Sep 16th, 2009 - To make evidence-based recommendations concerning the evaluation of the child with microcephaly. Relevant literature was reviewed, abstracted, and classified. RECOMMENDATIONS were based on a 4-tiered scheme of evidence classification. Microcephaly...

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Drugs  155 results see all →

Clinicaltrials.gov  212 results

The Effect of Nursing Empowerment Program
https://clinicaltrials.gov/ct2/show/NCT05497050

Aug 11th, 2022 - Phenylketonuria is a disorder of phenylalanine metabolism and causes intellectual destruction if left untreated. It is an autosomal recessive metabolic disease that develops as a result of the absence of the enzyme phenylalanine hydroxylase (FAH),...

Study of Smith-Lemli-Opitz Syndrome
https://clinicaltrials.gov/ct2/show/NCT00001721

Aug 9th, 2022 - Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital anomaly/mental retardation syndrome. Typical clinical features include a distinctive facial appearance, mental retardation, autistic behavior, hypotonia, failure to fe...

North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
https://clinicaltrials.gov/ct2/show/NCT01694940

Aug 1st, 2022 - Mitochondrial diseases comprise a group of relatively rare (~1 in 5000 adults) but very serious genetic disorders. Mitochondria are often called the "powerhouses of the cell" because they provide the energy our cells need to live. Mitochondria hav...

Cognitive Neuroscience of Autism Spectrum Disorders
https://clinicaltrials.gov/ct2/show/NCT01031407

Aug 1st, 2022 - Objective: The primary objective of the proposed studies is to utilize neuroimaging (functional Magnetic Resonance Imaging [fMRI], structural MRI [sMRI], Magnetoencephalography [MEG]) and neuropsychological tools (eye-tracking, cognitive experimen...

Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
https://clinicaltrials.gov/ct2/show/NCT00046202

Jul 25th, 2022 - Over the past 15 years, it has become clear that inborn errors of cholesterol synthesis give rise to human malformation/mental retardation syndromes. Smith-Lemli-Opitz syndrome is the prototypical example of a post-squalene inborn error of metabol...

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News  147 results

Pediatric Subungual Exostosis
https://www.mdedge.com/dermatology/article/248294/pediatrics/pediatric-subungual-exostosis
Faraz Yousefian, DO, Brandon Davis, DO et. al.

Nov 4th, 2021 - Exostosis is a type of benign bone tumor in which trabecular (spongy) bone overgrows its normal border in a nodular pattern. 1,2 Histologically, it usually is surrounded by a fibrocartilaginous cap.

Despite New Ichthyosis Treatment Recommendations, 'Many Questions Still Exist'
https://www.medscape.com/viewarticle/949188

Apr 13th, 2021 - For as many disorders of cornification and types of ichthyosis that have been shown to benefit from retinoids, a seemingly equal number have no data or show no improvement. According to a consensus statement published in the February issue of Pedi...

Despite new ichthyosis treatment recommendations, ‘many questions still exist’
https://www.mdedge.com/dermatology/article/238473/pediatrics/despite-new-ichthyosis-treatment-recommendations-many
Doug Brunk

Apr 12th, 2021 - For as many disorders of cornification and types of ichthyosis that have been shown to benefit from retinoids, a seemingly equal number have no data or show no improvement. Dr.

Combination Therapies, Novel Targeted Agents Are Focus of Pancreatic NET Studies
https://www.onclive.com/view/combination-therapies-novel-targeted-agents-are-focus-of-pancreatic-net-studies

Dec 20th, 2020 - Pamela L. Kunz, MD Selection of first-line treatments and the rational sequencing of therapies are among the unresolved questions in the treatment of pancreatic neuroendocrine tumors (NETs). Clinical trials are exploring the use of mTOR inhibitor...

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Patient Education  2 results see all →