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TBX2 Gene Duplication Associated With Complex Heart Defect and Skeletal Malformations

We report on a patient with mild mental retardation, prenatal onset growth retardation, cerebellar hypoplasia, and complex heart defect including: interventricular septal defect, patent foramen ovale, aortic coarctation, tricuspid valve insufficiency, mitral valve stenosis, and minor skeletal anomalies with hypoaplasia of the distal phalanges. ASNP-array analysis detected a de novo duplication of 17q23.2, encompassing the TBX2 gene. Animal models argue for a key role of Tbx2 during cardiac an...

Profile of pitolisant in the management of narcolepsy: design, development, and place in therapy

Narcolepsy is a rare sleep disorder characterized by excessive daytime sleepiness and rapid eye movement sleep dysregulation, manifesting as cataplexy and sleep paralysis, as well as hypnagogic and hypnopompic hallucinations. Disease onset may occur at any age, although adolescents and young adults are mainly affected. Currently, the diagnosis delay ranges from 8 to 10 years and drug therapy may only attenuate symptoms. Pitolisant is a first-in-class new drug currently authorized by the Europ...

Cyclosporine A microemulsion in dermatological practice: is oral solution better tolerated than soft gelatin capsules?

Position Statement: Linear prurigo is a subtype of chronic prurigo

Background: Chronic prurigo (CPG) is a distinct disease characterized by chronic pruritus, history and/or signs of prolonged scratching and multiple pruriginous lesions. It may present with various clinical manifestations, including papules, nodules, plaques or umbilicated lesions. Some patients with chronic pruritus show pruriginous linear and scaring scratch lesions (LSSL) and it is unclear whether these lesions belong to the spectrum of CPG. Objective: To achieve a consensus on the classif...

First report of hereditary Christ-Siemens-Touraine syndrome and non-segmental vitiligo association in a young adult: contraindication for vitiligo treatment

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Upper arch dimensional changes with clear aligners in the early mixed dentition
An Innovative Model of University Cooperation in Developing Countries: Results of 5 Years of Experience in Internal Medicine, Health Promotion and Education
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'Tissue' transglutaminase ablation reduces neuronal death and prolongs survival in a mouse model of Huntington's disease
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Placental Dysfunction in Assisted Reproductive Pregnancies: Perinatal, Neonatal and Adult Life Outcomes
A case report of a giant rectal adenoma causing secretory diarrhea and acute renal failure: McKittrick-Wheelock syndrome
Adverse effects of engineered nanomaterials: exposure, toxicology and impact on human health: Second Edition

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Development and content validity of educational videos on self‐management of fluid restriction and thirst for individuals with heart failure
Functional outcomes of copy number variations of Chrna7 gene: current knowledge and new insight from induced pluripotent stem cells studies
Upper arch dimensional changes with clear aligners in the early mixed dentition
Conventional versus laser gingivectomy in the management of gingival enlargement during orthodontic treatment: a randomized controlled trial
Evaluation of maxillary arch dimensions and palatal morphology in mouth-breathing children by using digital dental casts
Characterization of Cell Death Pathways in Human Immunodeficiency Virus-Associated Encephalitis
Profiling complete regression after pre-operative therapy in gastric cancer patients using clinical and pathological data
A case report of a giant rectal adenoma causing secretory diarrhea and acute renal failure: McKittrick-Wheelock syndrome
Effects of pendulum appliance versus clear aligners in the vertical dimension during Class II malocclusion treatment: a randomized prospective clinical trial
Benefit of a multimodal approach combining chemotherapy and surgery in oligometastatic gastric cancer: experience from a tertiary referral center

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TBX2 Gene Duplication Associated With Complex Heart Defect and Skeletal Malformations

Profile of pitolisant in the management of narcolepsy: design, development, and place in therapy

Cyclosporine A microemulsion in dermatological practice: is oral solution better tolerated than soft gelatin capsules?

Position Statement: Linear prurigo is a subtype of chronic prurigo

First report of hereditary Christ-Siemens-Touraine syndrome and non-segmental vitiligo association in a young adult: contraindication for vitiligo treatment

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