A new inexpensive, accurate, and practical diagnostic test for Turner syndrome has been developed by Yale School of Medicine researchers. The test can detect X-chromosome abnormalities in girls and can be done in a doctor's office using cheek swabs or newborn screening blood spots.
Long QT syndrome affects approximately 1 in 2500 people and can cause torsade de pointes episodes leading to sudden death. Researchers identified KCNH2 as the most frequent mutation in patients with long QT syndrome, highlighting the potential for genetic testing to diagnose the condition in carriers without symptoms.
A study published in Neurology found that older people with metabolic syndrome are 20% more likely to experience cognitive decline on memory tests. Higher triglycerides and low HDL cholesterol were linked to poorer memory scores.
The study reveals KILLIN as a novel predisposition gene for Cowden syndrome and Cowden-like syndrome, allowing for earlier diagnosis of tumors. Individuals with classic Cowden syndrome should be offered PTEN testing first, followed by screening for the inactivated KILLIN gene.
Researchers identified a genetic alteration that predisposes individuals to Cowden syndrome, a rare disorder with high risks of breast, thyroid, and other cancers. The study found KILLIN as a predisposition gene, associated with increased risk of breast and kidney cancer.
A new study published in Retrovirology reveals that cell samples used in previous research were contaminated with XMRV, not the cause of chronic fatigue syndrome. The researchers developed improved methods to detect XMRV and rule out infection by this virus as a cause of the disease.
A study published in Archives of Dermatology reveals that nearly 40% of individuals with psoriasis also have features of the metabolic syndrome. The most common feature among individuals with psoriasis is abdominal obesity, followed by high triglyceride levels and low levels of HDL cholesterol.
Researchers at Boston Children's Hospital have begun testing mecasermin, a drug that may reverse features of Rett syndrome by enhancing synapse maturation. The three-year pilot study aims to improve neurodevelopment and cardiorespiratory function in girls with the condition.
Researchers at U-M Medical School have found a potential therapeutic target for the adult form of Fragile X Tremor Ataxia Syndrome by modifying brain changes associated with FXTAS, which is caused by overproduction of toxic mRNA.
Researchers developed a simple fingertip test to evaluate the risk of developing carpal tunnel syndrome in postmenopausal women taking aromatase inhibitor drugs. The two-point discrimination score worsened significantly among overweight women, indicating a potential way to measure risk for CTS.
A study found that loud snoring and difficulty falling asleep predict the development of metabolic syndrome, a key risk factor for cardiovascular disease. The risk was significantly higher in adults who reported frequent loud snoring or unrefreshing sleep.
Researchers at UC Davis Health System found significantly reduced vitamin D levels in patients with metabolic syndrome living in Northern California. The study suggests that supplementation with vitamin D may reduce the risk of diabetes and heart disease, contradicting previous assumptions about adequate sun exposure in sunny latitudes.
Researchers found increased vascular reactivity and decreased endothelial function in women with broken heart syndrome compared to postmenopausal women and those who had regular heart attacks. This unique risk factor highlights the importance of mental stress in ABS syndrome, which may lead to the development of specific therapies.
A six-month exercise program improved leg strength and flexibility in patients with post-thrombotic syndrome, a frequent complication of deep vein thrombosis. The study's findings support the potential benefits of exercise training for managing this condition.
Researchers found that a mutation in the MeCP2 gene leads to the mobilization of L1 retrotransposons in brain cells, reshuffling their genomes and possibly contributing to the symptoms of Rett syndrome. This discovery sheds light on the complexity of molecular events underlying psychiatric disorders such as autism and schizophrenia.
A team of researchers has developed a human cell-based model of Rett syndrome, overcoming the main limitation of accessing live neurons from patients. The study provides evidence of functional rescue using human cells and opens up new avenues for drug development and high-throughput screening.
Scientists successfully replicated autism in the lab using human induced pluripotent stem (iPS) cells derived from patients with Rett syndrome. The study revealed disease-specific cellular defects, such as reduced functional connections between neurons, which are reversible through insulin-like growth factor 1 (IGF-1) treatment.
Researchers found that adult cells from patients with Rett Syndrome could be transformed into induced pluripotent stem cells, which formed functional neurons in cell culture. However, these cells exhibited abnormalities that could be reversed by treating them with drugs, suggesting a potential therapeutic window before disease onset.
Researchers at UCSD School of Medicine created functional neurons from patients with Rett syndrome, providing a new human cellular model for studying autism spectrum disorder. The neurons featured fewer synapses, reduced spine density, and altered calcium signaling, suggesting that synaptic deficiencies may not be permanent.
A study in mice reveals that loss of the protein MeCP2 in inhibitory nerve cells reproduces nearly all features of Rett syndrome, a devastating neurological disorder. The lack of MeCP2 impairs communication between neurons, leading to cognitive deficits, breathing difficulties, and repetitive behaviors.
Researchers found that removing MECP2 from GABA-producing neurons reduces neurotransmitter production by 30%, reproducing Rett symptoms. The study suggests a possible pathway to understanding neuropsychiatric disorders and potential therapeutic intervention.
A study has identified two key signaling pathways - Ras/MAPK and Rac/Stat3 - that are activated in the hearts of mice with a Noonan syndrome-associated Sos1 mutation. These pathways may be crucial for understanding the development of heart defects in individuals with the disorder.
Researchers at the University of Bristol have discovered a way to prevent intermittent episodes of breath holding associated with Rett syndrome by increasing levels of aminobutyric acid and stimulating serotonin receptors. This breakthrough has significant implications for alleviating symptoms in patients with this debilitating disease.
Researchers halt life-threatening breathing arrests in mouse models of Rett syndrome using a combination of drugs. The breakthrough offers new hope for treating this devastating disease, which affects 1 in 10,000 young girls.
The International Rett Syndrome Foundation has awarded $1.5 million in research grants to advance understanding of the disorder and develop treatments. These awards will support innovative studies on the genetic and epigenetic mechanisms underlying Rett syndrome.
The Kennedy Krieger Institute will conduct research on the onset and progression of Alzheimer's disease in adults with Down syndrome. The studies aim to establish criteria for early diagnosis and develop methods to identify mild cognitive impairment.
Researchers at the University of Arizona have developed a battery of computer-based tests that can quickly assess cognitive abilities in individuals with Down syndrome. The tests, which take about two hours to administer, offer a new tool for clinicians and researchers to determine developmental trajectory and devise drug and behaviora...
Researchers found a unique genome structure formed by protein complexes that regulate cell-type-specific genes, leading to developmental diseases. Deficiencies in these complexes can cause syndromes like Opitz-Kaveggia syndrome and schizophrenia.
Researchers at the Salk Institute found that individuals with Williams syndrome process spoken language differently from those with autism spectrum disorders, which has opposite social profiles. People with Williams syndrome exhibit an abnormally large N400 response indicating sensitivity to semantic aspects of language.
Researchers have discovered a potential new treatment for fragile X syndrome by targeting phosphoinositide-3 (PI3) kinase inhibitors. These drugs can correct defects in neurons and restore normal protein production at synapses, suggesting improved learning and cognition in individuals with the condition.
Researchers used next generation sequencing to identify genetic mutations in a family with Perrault syndrome, a rare disorder associated with hearing loss and ovarian failure. The study found a common gene HSD17B4 linked to both Perrault syndrome and DBP deficiency, a severe congenital syndrome.
A new study by LSUHSC researchers found that fat in the liver, abdominal fat, and fat oxidation are early markers for metabolic syndrome in children. The study suggests that factors such as pregnancy weight, birth weight, and physical activity may contribute to poor metabolic function in young children.
The 11th Annual Rett syndrome Symposium saw a record turn-out of nearly 150 attendees, including leading scientists, researchers, families affected by the disease, and volunteers. The event featured sessions on treatment strategies and Autism Spectrum Disorders, with new collaborations and relationships forged among participants.
A new study found nearly half of the elderly Dutch population had vitamin D deficiency, which may increase the risk of metabolic syndrome. The condition is characterized by high blood pressure, abdominal obesity, abnormal cholesterol profile, and high blood sugar.
A new study found that living kidney donors with metabolic syndrome experience a decline in renal function more than twice as fast as those without the condition, highlighting the need for corrective measures before donation.
A new study found that choline supplementation during pregnancy and nursing may improve cognitive and emotional abilities in people with Down syndrome. The research also suggests potential protection against neurodegenerative conditions such as Alzheimer's disease.
Researchers found that reducing beta-amyloid levels in young mice with a Down syndrome-like genetic anomaly significantly improved their ability to learn. The study suggests that drugs targeting gamma-secretase may offer therapeutic benefits for children with Down syndrome, who develop cognitive decline and dementia in adulthood.
The incidence of calcium-alkali syndrome is rising due to widespread use of over-the-counter calcium supplements. Limiting daily intake to 1.2-1.5 grams can prevent the condition.
Researchers identified protein Ash2l as a crucial partner of Tbx1, regulating early embryonic development and gene activity. The study provides insight into the biological events leading to chromosome 22q.11 deletion syndrome, which often includes congenital heart defects.
A large-scale study found that restless legs syndrome clusters in families due to genetic influences and environmental effects. French-Canadian women are more affected by the condition, with siblings being three and a half times more likely to develop the disease.
A study found that restless legs syndrome aggregates in families, with 77% of affected individuals having a family history. Siblings and offspring are at higher risk of developing the condition, indicating potential genetic or environmental influences.
A retrospective study found that vaccination is associated with earlier onset of seizures in children with Dravet syndrome, but does not affect the clinical outcome. The study analyzed 40 patients and found no difference in intellectual outcome or subsequent seizure type between vaccinated and unvaccinated groups.
A longitudinal study found that brains of young boys with fragile X syndrome differ from those without the condition, showing an overabundance of gray matter in certain regions and diminished presence in others. This knowledge can be used to monitor new therapies' effectiveness in restoring brain structure and function.
A four-year grant supports the development of updated growth charts based on data from 600 children with Down syndrome. The charts will better represent growth patterns and body mass index changes, enabling healthcare professionals to plan treatment and design preventive health programs.
Researchers discovered specific PTEN mutations linked to distinct kinds of cancer in organs targeted by Cowden syndrome. The study suggests that testing for these mutations could predict cancer severity in patients with the syndrome.
A recent study suggests that a deficiency of protein in the brain may contribute to cognitive impairment and congenital heart defects in Down syndrome patients. Researchers found lower levels of the protein in brains with Down syndrome compared to healthy controls, and an experimental drug increased its production.
Researchers propose that MeCP2 affects the entire genome in neurons, leading to increased histone acetylation and spurious transcription of 'junk DNA'. This discovery challenges the previous view of MeCP2 as a target-specific transcription factor.
A new study reveals that chromatin proteins defective in RTT, CdLS, and ATR-X syndromes are associated with each other and regulate imprinted genes. This cooperation may explain similarities between the associated human syndromes.
Researchers have discovered a developmental delay in the brain circuit that processes sensory information in mice with fragile X syndrome, which is associated with hypersensitivity and social withdrawal. This delayed development may contribute to the sensory processing deficits seen in humans with fragile X syndrome.
Studies implicate beta amyloid protein in shared disease mechanisms with Alzheimer's, Down syndrome, and atherosclerosis. Damage to microtubule network disrupts cholesterol metabolism and insulin signaling.
Researchers report a rare diagnosis of superior mesenteric artery syndrome in a diabetic patient, causing similar symptoms to gastroparesis. Computed tomography and upper GI series are reliable diagnostic tools, while adequate nutrition supply and bodyweight gain aim to relieve symptoms.
A study by neuroscientist William C. Mobley demonstrated a possible new approach to slowing cognitive decline in Down's syndrome using a pro-drug for norepinephrine, rescuing cognition in mice.
A Stanford University School of Medicine study found that boosting norepinephrine signaling in mice with Down syndrome-like conditions improves cognition. The researchers suggest using existing medications targeting depression and ADHD to treat the condition.
Researchers at the University of Warwick have identified central obesity, high blood pressure, and high blood sugar as the most dangerous combination of health factors for developing metabolic syndrome. This combination can increase the risk of heart attack by doubling it and mortality rates by three times.
A study of 15 patients with severe Tourette syndrome found that deep brain stimulation reduced tic frequency by 52% on average and improved OCD symptoms. The treatment showed no significant effect on thinking abilities.
A new study reveals a 71% increase in Down syndrome pregnancies and births over 20 years, largely due to women delaying childbearing. Despite this rise, improvements in prenatal screening have maintained the number of babies born with the condition at around 750 per year.
Women without HOXA13 gene mutations do not need x-rays and tests for hand-foot genital syndrome, according to a new study. Hand-foot genital syndrome affects reproductive and urinary systems development.
Researchers have discovered a new chromosomal abnormality in acute lymphoblastic leukemia (ALL) that is particularly common in children with Down syndrome. The finding has led to the development of new diagnostic tests and potential treatments, including an experimental medication targeting one of the altered genes.
Researchers have tested various cell-based therapies in mice with Alport syndrome, a genetic kidney disease. Stem cell treatments may repair kidney defects associated with the disease, offering promise for patients.
Researchers have identified a genetic factor that increases the risk of sudden cardiac death in patients with congenital long-QT syndrome. Variants of the gene NOS1AP were found to predispose individuals to a worse form of the disease, leading to longer QT intervals and increased symptoms.