Unusual Inconsolable Crying: An Insight, Case Report, and Review of the Literature on the Pitt-Hopkins Gastrointestinal Phenotype.

Pitt-Hopkins syndrome (PTHS) is a rare, neurodevelopmental genetic disorder caused by mutations in the TCF4 gene. This gene encodes a ubiquitous, class I, basic helix-loop-helix factor, which is implicated in various developmental and regulatory processes. Predominant clinical manifestations of PTHS include facial dysmorphisms, intellectual disability, absence of expressive language, epilepsy, as well as visual and musculoskeletal impairments.

Efficacy of a Novel Vertebral Body Augmentation System in the Treatment of Patients with Symptomatic Vertebral Body Fractures.

Purpose: To evaluate the safety and efficacy of a novel augmentation implant in the treatment of patients with symptomatic vertebral body fractures.

Materials And Methods: Thirty consecutive patients (seven males and 23 females), mean age of 70 years (range 56 to 89) with osteoporotic fractures and/or low-energy trauma fractures (osteoporosis confirmed by CT), were enrolled in an IRB-approved prospective study. The type of fracture was classified according to the Magerl classification.

Efficacy of an ethyl alcohol gel in symptomatic disc herniation.

Purpose: To evaluate the clinical outcome of DiscoGel® chemonucleolysis for symptomatic disc herniation in patients who fail conservative treatment.

Material And Methods: Consecutive patients with symptomatic disc herniation confirmed on MRI who failed conservative management for at least 6 months were included. Visual analogue scale (VAS), Oswestry Disability Index (ODI) scores, and analgesic use were recorded at baseline, and 12 months after treatment.

Atrial fibrillation in a preterm newborn with structurally normal heart.

Atrial fibrillation (AF) is a really uncommon arrhythmia in newborns. Here, we report the case of a 1-day-old infant who was recovered in Neonatal Intensive Care Unit for a twin-to-twin transfusion. The appearance of an unexpected AF was registered at his continuous electrocardiographic monitoring.

Percutaneous stabilization of lumbar spine: a literature review and new options in treating spine pain.

Vertebral fracture (VF) is a common condition with >160,000 patients affected every year in North America and most of them with affected lumbar vertebrae. The management of VF is well known and defined by many protocols related to associated clinical neurological symptoms, especially in case of the presence or absence of myelopathy or radicular deficit. In this article, we will explore the percutaneous stabilization of the lumbar spine by showing the newest approaches for this condition.

Diffusion-Weighted MRI Assessment of Adjacent Disc Degeneration After Thoracolumbar Vertebral Fractures.

Objective: The purpose of this study was to assess, by the mean apparent diffusion coefficient (ADC), if a relationship exists between disc ADC and MR findings of adjacent disc degeneration after thoracolumbar fractures treated by anatomic reduction using vertebral augmentation (VAP).

Materials And Methods: Twenty non-consecutive patients (mean age 50.7 years; range 45-56) treated because of vertebral fractures, were included in this study.

Midterm Clinical and Radiologic Outcomes after Percutaneous Interspinous Spacer Treatment for Neurogenic Intermittent Claudication.

Purpose: To evaluate the midterm clinical and radiologic outcome of percutaneous interspinous process spacer (IPS) treatment for neurogenic intermittent claudication (NIC) in patients who fail conservative treatment.

Methods: Consecutive patients with NIC, lumbar spinal stenosis confirmed on magnetic resonance imaging, failure of conservative management for at least 6 months, and treatment with percutaneous IPS were included. Visual analog scale (VAS) and Oswestry Disability Index (ODI) scores were recorded at baseline, 1 month, 1 year and 3 years after treatment.

Effectiveness of percutaneous screws for treatment of degenerative lumbar low back pain.

Background: The purpose of this retrospective observational study was to demonstrate the efficacy of a percutaneous screws system in the treatment of lumbar pain caused by high-level disc degeneration combined with facet joint hypertrophy and canal stenosis especially in the L5-S1 levels.

Methods: Thirty-eight patients (25 males, 13 females, mean age 63 years) with lumbar pain and/or neuralgia-claudication were treated with interpeduncular dynamic screws. Diagnosis was based on clinical\medical history evaluation and X-ray, CT, and MR examinations.

Effectiveness of a bone substitute (CERAMENT™) as an alternative to PMMA in percutaneous vertebroplasty: 1-year follow-up on clinical outcome.

Purpose: The aim of the study was to evaluate the efficacy of an injectable and partly absorbable calcium bone cement (CERAMENT™, Bone Support, Sweden) in the treatment of osteoporotic or traumatic vertebral fractures by percutaneous vertebroplasty.

Methods: From March 2009 to October 2010 an open, prospective study in two centres was performed. 33 patients with symptomatic vertebral fractures were enrolled.