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About 5,478 results

ALLMedicine™ Hypotonia Center

Research & Reviews  2,006 results

A novel ZC4H2 variant in a female with severe respiratory complications.
https://doi.org/10.1016/j.braindev.2022.04.009
Brain & Development; Wakabayashi T, Mizukami M et. al.

May 4th, 2022 - An X-linked ZC4H2 variant is associated with a variety of phenotypes that have abnormalities related to external malformation and neurodevelopment. There have been no reports on severe respiratory dysfunction resulting in surgical treatments not b...

Compound Heterozygous Mutations Presented with Quadriparesis and Menopause. A Case Report.
https://doi.org/10.1017/thg.2022.11
Twin Research and Human Genetics : the Official Journal O... Noorian S, Mohammadpoor Nami S et. al.

May 3rd, 2022 - Mitochondrion regulates cellular metabolism with the aid of its respiratory complexes; any defect within these complexes can result in mitochondrial malfunction and various conditions. One such mutation can occur in SLC25A10, resulting in mitochon...

Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are...
https://doi.org/10.1016/j.gim.2022.04.003
Genetics in Medicine : Official Journal of the American C... Meuwissen M, Verstraeten A et. al.

May 3rd, 2022 - CTR9 is a subunit of the PAF1 complex (PAF1C) that plays a crucial role in transcription regulation by binding CTR9 to RNA polymerase II. It is involved in transcription-coupled histone modification through promoting H3K4 and H3K36 methylation. We...

Orthostatic hypotonia as a probably late sequela of SARS-CoV-2 infection in a patient p...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9051496
European Journal of Medical Research; Kluczna A, Mularska E et. al.

May 1st, 2022 - The SARS-CoV-2 pandemic has become a challenge for the entire healthcare system. Treatment for COVID-19 includes casual and symptomatic management in the acute phase of the disease and focuses on the treating early complications of the disease. Lo...

Orbital nodular fasciitis in child with biallelic germline RBL2 variant.
https://doi.org/10.1016/j.ejmg.2022.104513
European Journal of Medical Genetics; Rips J, Abu-Libdeh B et. al.

Apr 30th, 2022 - RBL2/p130 is one of three highly conserved members of the retinoblastoma (RB) protein family. It is strongly upregulated during neuronal differentiation and brain development, and is critical for survival of post-mitotic neurons. Similar to RB1, i...

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Guidelines  1 results

Brief Resolved Unexplained Events (Formerly Apparent Life-Threatening Events) and Evalu...
https://doi.org/10.1542/peds.2016-0590
Pediatrics Tieder JS, Bonkowsky JL et. al.

Jun 1st, 2016 - This is the first clinical practice guideline from the American Academy of Pediatrics that specifically applies to patients who have experienced an apparent life-threatening event (ALTE). This clinical practice guideline has 3 objectives. First, i...

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Drugs  104 results see all →

Clinicaltrials.gov  34 results

Genetics of Ehlers-Danlos Syndrome
https://clinicaltrials.gov/ct2/show/NCT03093493

Apr 28th, 2022 - Ehlers-Danlos Syndrome (EDS) is a genetic disease that affects collagen synthesis and structure resulting in multisystem connective tissue involvement with twelve different subtypes. The clinical manifestations of EDS include skin hyperextensibili...

Fine Motor Skills and Post-Stroke Swallowing
https://clinicaltrials.gov/ct2/show/NCT05224973

Apr 20th, 2022 - Around the world, in 2012, 5 million people were estimated to survive a stroke with permanent disabilities. About half of stroke victims suffer from dysphagia during the acute phase and almost a fifth of them still show clinical signs beyond 14 da...

Rescue of Infants With MCT8 Deficiency
https://clinicaltrials.gov/ct2/show/NCT04143295

Mar 10th, 2022 - MCT8 deficiency (that is also known as Allan-Herndon-Dudley syndrome) is a rare X-linked inherited disorder of brain development that causes severe intellectual disability and problems with movement. This condition, which occurs almost exclusively...

Validation of Sleep Questionnaires in the Down Syndrome Population
https://clinicaltrials.gov/ct2/show/NCT03771469

Feb 9th, 2022 - Specific Aims: Demonstrate the criterion validity of the Sleep-Related Breathing Disorder subscale of the PSQ as a screening tool for the diagnosis of OSA in children with Down Syndrome, using polysomnography as the gold standard. Hypothesis: Comp...

Assessment of Hypotonia in Children With Down Syndrome
https://clinicaltrials.gov/ct2/show/NCT05131542

Jan 21st, 2022 - Hypotonia is usually diagnosed by observation and clinical assessment. Aiming to develop an instrument for early diagnosis, a systematic review was carried out which compiled characteristics and testing that are attributed to or used in the diagno...

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News  44 results

Skill Checkup: A 6-Month-Old Boy With History of Seizure-like Episodes, Dystonia, and Ongoing Nasal Congestion
https://www.medscape.com/viewarticle/964885

Jan 31st, 2022 - The Skill Checkup series provides a quick, case-style interactive quiz highlighting key guidelines- and evidence-based information to inform clinical practice. A 6-month-old boy of Taiwanese descent has history of seizure-like episodes, dystonia, ...

Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency (AADCD)
https://www.medscape.com/viewarticle/936000

Aug 5th, 2021 - The enzyme aromatic L-amino acid decarboxylase (AADC) is involved in the synthesis of neurotransmitters. Patients born with AADC deficiency, which is an ultrarare, autosomal recessive neurometabolic disorder, may be asymptomatic at birth but can e...

CBD for Severe Epilepsy Linked to Early Puberty in a 2-Year-Old
https://www.medscape.com/viewarticle/950725

May 7th, 2021 - Cannabidiol (CBD), purchased online, has been linked to early puberty in a very young child with severe intractable epilepsy. The case report describes the unusual instance of a 2-year-old boy with severe, uncontrolled epilepsy who was treated wit...

Incontinentia Pigmenti: Initial Presentation of Encephalopathy and Seizures
https://www.mdedge.com/dermatology/article/237963/pediatrics/incontinentia-pigmenti-initial-presentation-encephalopathy-and
Jon Klinton Peebles, MD, Lauren Craddock, MD et. al.

Mar 31st, 2021 - To the Editor: A 7-day-old full-term infant presented to the neonatal intensive care unit with poor feeding and altered consciousness. She was born at 39 weeks and 3 days to a gravida 1 mother with a pregnancy history complicated by maternal chori.

Pityriasis rosea carries few risks for pregnant women
https://www.mdedge.com/dermatology/article/234668/infectious-diseases/pityriasis-rosea-carries-few-risks-pregnant-women
Heidi Splete

Jan 15th, 2021 - Pregnancy complications in women with pityriasis rosea (PR) were relatively minor, and included no cases of miscarriage, abortion, or fetal death, according to a review of 33 patients. “Though generally considered benign, PR may be associated with.

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Patient Education  2 results see all →