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About 12,814 results
Association between donor leukocyte telomere length and survival after unrelated alloge...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4388056
JAMA Gadalla SM, Wang T et. al.

Feb 10th, 2015 - Telomeres protect chromosome ends and are markers of cellular aging and replicative capacity. To evaluate the association between recipient and donor pretransplant leukocyte telomere length with outcomes after unrelated donor allogeneic hematopoietic cell transplantation (HCT) for patients with severe aplastic anemia. The study included 330 patients (235 acquired, 85 Fanconi anemia, and 10 Diam...

Fragile X checklists: A meta-analysis and development of a simplified universal clinica...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081230
Molecular Genetics & Genomic Medicine; Lubala TK, Lumaka A et. al.

Apr 6th, 2018 - Clinical checklists available have been developed to assess the risk of a positive Fragile X syndrome but they include relatively small sample sizes. Therefore, we carried out a meta-analysis that included statistical pooling of study results to obtain accurate figures on the prevalence of clinical predictors of Fragile X syndrome among patients with intellectual disability, thereby helping hea...

Arbaclofen in Children and Adolescents with Autism Spectrum Disorder: A Randomized, Con...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5436109
Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology; Veenstra-VanderWeele J, Cook EH et. al.

Oct 17th, 2016 - Several lines of emerging data point to an imbalance between neuronal excitation and inhibition in at least a subgroup of individuals with autism spectrum disorder (ASD), including in those with fragile X syndrome (FXS), one of the most common genetic syndromes within ASD. In animal models of FXS and of ASD, GABA-B agonists have improved both brain and behavioral phenotypes, including social be...

A Randomized, Double-Blind, Placebo-Controlled Trial of Low-Dose Sertraline in Young Ch...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5039060
Journal of Developmental and Behavioral Pediatrics : JDBP; Greiss Hess L, Fitzpatrick SE et. al.

Aug 25th, 2016 - Observational studies and anecdotal reports suggest that sertraline, a selective serotonin reuptake inhibitor, may improve language development in young children with fragile X syndrome (FXS). The authors evaluated the efficacy of 6 months of treatment with low-dose sertraline in a randomized, double-blind, placebo-controlled trial in 52 children with FXS aged 2 to 6 years. Eighty-one subjects ...

Cardiopulmonary anomalies in incontinentia pigmenti patients.
https://doi.org/10.1111/ijd.13835
International Journal of Dermatology; Onnis G, Diociaiuti A et. al.

Dec 2nd, 2017 - Incontinentia pigmenti (IP) is a rare inherited genodermatosis that usually involves the skin, and also teeth, oral cavity, central nervous system, eyes, blood with eosinophilia, and rarely skeletal system, breast, heart, and lungs. Skin lesions usually appear early, at birth or within the first 2 weeks of life, with four different phases tending to follow Blaschko lines that may overlap. We re...

Efficacy and Safety of Pediatric Prolonged-Release Melatonin for Insomnia in Children W...
https://doi.org/10.1016/j.jaac.2017.09.414
Journal of the American Academy of Child and Adolescent Psychiatry; Gringras P, Nir T et. al.

Nov 3rd, 2017 - To assess the efficacy and safety of novel pediatric-appropriate, prolonged-release melatonin minitablets (PedPRM) versus placebo for insomnia in children and adolescents with autism spectrum disorder (ASD), with or without attention-deficit/hyperactivity disorder (ADHD) comorbidity, and neurogenetic disorders (NGD). A total of 125 children and adolescents (2-17.5 years of age; 96.8% ASD, 3.2% ...

Fragile X syndrome.
https://doi.org/10.1038/nrdp.2017.65
Nature Reviews. Disease Primers; Hagerman RJ, Berry-Kravis E et. al.

Sep 29th, 2017 - Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism spectrum disorder, and patients can present with severe behavioural alterations, including hyperactivity, impulsivity and anxiety, in addition to poor language development and seizures. FXS is a trinucleotide repeat disorder, in which >200 repeats of the CGG motif in FMR1 leads to silencing of the gene ...

Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Famil...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5621635
Pediatrics Wheeler A, Raspa M et. al.

Aug 17th, 2017 - Given the nature of FMR1 gene expansions, most biological mothers, and often multiple other family members of children with fragile X syndrome (FXS), will have a premutation, which may increase individual and family vulnerabilities. This article summarizes important gaps in knowledge and notes potential implications for pediatric providers with regard to developmental and medical risks for chil...

Neural tube defects in Waardenburg syndrome: A case report and review of the literature.
https://doi.org/10.1002/ajmg.a.38325
American Journal of Medical Genetics. Part A; Hart J, Miriyala K

Jul 7th, 2017 - Waardenburg syndrome type 1 (WS1) is an autosomal dominant genetic condition characterized by sensorineural deafness and pigment abnormalities, and is caused by variants in the PAX3 homeodomain. PAX3 variants have been associated with severe neural tube defects in mice and humans, but the frequency and clinical manifestations of this symptom remain largely unexplored in humans. Consequently, th...

Autism Symptoms in Fragile X Syndrome.
https://doi.org/10.1177/0883073817712875
Journal of Child Neurology; Niu M, Han Y et. al.

Jun 15th, 2017 - Fragile X syndrome (FXS) is recognized as the most common genetic cause of intellectual disability and autism spectrum disorder (ASD). Although symptoms of ASD are frequently observed in patients with FXS, researchers have not yet clearly determined whether the symptoms in patients with FXS differ from the symptoms in patients without ASD or nonsyndromic ASD. Behavioral similarities and differe...

Do the data really support ordering fragile X testing as a first-tier test without clin...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702277
Genetics in Medicine : Official Journal of the American College of Medical Genetics; Weinstein V, Tanpaiboon P et. al.

May 25th, 2017 - PurposeCurrent guidelines recommend first-tier chromosome microarray analysis (CMA) and fragile X syndrome (FX) testing for males with isolated intellectual disabilities/learning delay (ID/LD) and autism spectrum disorders (ASDs).MethodsMales in our clinic with ID/LD or ASD (310) were analyzed for positive results from CMA and/or FX testing.ResultsCMA detected abnormalities in 29% of males with...

Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined I...
https://doi.org/10.1007/s10875-017-0403-9
Journal of Clinical Immunology; Barry JC, Crowley TB et. al.

May 25th, 2017 - Chromosome 22q11.2 deletion syndrome (22q11.2DS), the most common cause of DiGeorge syndrome, is quite variable. Neonatal diagnosis traditionally relies on recognition of classic features and cytogenetic testing, but many patients come to attention only following identification of later onset conditions, such as hypernasal speech due to palatal insufficiency and developmental and behavioral dif...

Accuracy of Ultrasonography and Computed Tomography in the Evaluation of Patients Under...
https://doi.org/10.1177/0194599817696308
Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery; Thomas WW, Douglas JE et. al.

May 1st, 2017 - Objective To determine the accuracy of the 2 most utilized imaging modalities in obstructive sialadenitis secondary to sialolithiasis-computed tomography (CT) and ultrasonography (US)-using sialendoscopic findings as a comparison standard. To review the impact of CT and US on the management of sialolithiasis managed with sialendoscopy alone and through combined approaches. Study Design Retrospe...

Black Hairy Tongue: Predisposing Factors, Diagnosis, and Treatment.
https://doi.org/10.1007/s40257-017-0268-y
American Journal of Clinical Dermatology; Schlager E, St Claire C et. al.

Mar 1st, 2017 - Black hairy tongue (BHT) is a benign condition commonly found among people who smoke, have poor oral hygiene, are immunocompromised, or have a medical condition limiting their ability to practice good oral hygiene. Though this condition is harmless, patients need to be educated on etiology as many common medications are associated with this condition. Patients being placed on certain antibiotic...

Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dy...
https://doi.org/10.1097/MCD.0000000000000172
Clinical Dysmorphology; Hyder Z, Beale V et. al.

Feb 6th, 2017 - The ectodermal dysplasia and cleft lip/palate (EEC) syndrome describes the association of ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant disorders, there is variability in expression and not all of these three core features are present in every individual with the condition. Moreover, there may be additional associated features, which are under-recogn...

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097948
American Journal of Human Genetics; Kapferer-Seebacher I, Pepin M et. al.

Oct 17th, 2016 - Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder characterized by early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. A locus was mapped to an approximately 5.8 Mb region at 12p13.1 but no candidate gene was identified. In an international consortium we recruited 19 independent families comprising 107 individuals ...

Systemic Immunoglobulin Light Chain Amyloidosis-Associated Myopathy: Presentation, Diag...
https://doi.org/10.1016/j.mayocp.2016.06.027
Mayo Clinic Proceedings; Muchtar E, Derudas D et. al.

Oct 7th, 2016 - To characterize the natural history of immunoglobulin light chain amyloidosis-associated myopathy and to provide guidelines for recognition. Fifty-one patients with systemic immunoglobulin light chain amyloidosis and biopsy-confirmed muscle amyloid deposition diagnosed between January 1, 1995, and December 31, 2015, were included in this study. Common presenting symptoms were muscle weakness in...

Predictive Factors for Epilepsy in Pediatric Patients With Sturge-Weber Syndrome.
https://doi.org/10.1016/j.pediatrneurol.2016.08.009
Pediatric Neurology; Kaseka ML, Bitton JY et. al.

Sep 17th, 2016 - Sturge-Weber syndrome is characterized by a facial port-wine stain associated with either or both a retinal angioma and a cerebral pial angioma. Because a pial angioma may not be evident on the initial imaging studies, individuals at risk for epilepsy are often not identified before their first seizure. The aim of this study is to identify predictive factors predisposing Sturge-Weber patients t...

SUCCESSFUL TREATMENT OF REFRACTORY PROLIFERATIVE RETINOPATHY OF INCONTINENTIA PIGMENTI ...
https://doi.org/10.1097/ICB.0000000000000369
Retinal Cases & Brief Reports; Ho M, Yip WWK et. al.

Jul 29th, 2016 - To describe a case of incontinentia pigmenti with proliferative retinopathy successfully treated by combination of repeated retinal laser photocoagulation and intravitreal ranibizumab injection. Single interventional case report of a 4-year-old girl, known case of incontientia pigmenti, first screened at the age of two, presented with proliferative retinopathy. Sole treatment by panretinal lase...

From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a ...
https://doi.org/10.1530/EJE-16-0107
European Journal of Endocrinology; Thiele S, Mantovani G et. al.

Jul 12th, 2016 - Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which encompasses rare, related and highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo res...