Small Complex Rearrangement in -Related Axonal Neuropathy.

Background: Autosomal recessive inherited pathogenetic variants in the histidine triad nucleotide-binding protein 1 () gene are responsible for an axonal Charcot-Marie-Tooth neuropathy associated with neuromyotonia, a phenomenon resulting from peripheral nerve hyperexcitability that causes a spontaneous muscle activity such as persistent muscle contraction, impaired relaxation and myokymias.

Methods: Herein, we describe two brothers in whom biallelic variants were identified following a multidisciplinary approach.

Results: The younger brother came to our attention for clinical evaluation of moderate intellectual disability, language developmental delay, and some behavioral issues.

Longitudinal study of two cases of progressive multifocal leukoencephalopathy with a clinical benign evolution.

Progressive multifocal leukoencephalopathy (PML) usually is a rapid and fatal demyelinating disease of the central nervous system (CNS), caused by JC virus (JCV). After the introduction of Highly active antiretroviral therapy (HAART), its prognosis has been modified in some cases but remains a relevant cause of morbidity in human immunodeficiency virus-seropositive (HIV+) patients. The authors report here two cases of PML, followed over time, sharing a benign course and a JCV antigen-specific T-cell response, but with different cerebrospinal fluid (CSF), magnetic resonance imaging (MRI), and clinical features.

[Complex maxillofacial trauma: diagnostic contribution of multiplanar and tridimensional spiral CT imaging].

Introduction: Adequate radiologic assessment of the maxillofacial trauma patient is the basis for planning reparative surgery. We investigated the yield of the integration of axial CT with multiplanar (MP) and three-dimensional (3D) reconstructions with the Spiral technique.

Material And Methods: Thirty-five patients (21 men and 14 women, mean age: 31.

Use of spiral computed tomography for multiplanar dental reconstruction.

Objective: To compare spiral with conventional CT for multiplanar reconstruction (MPR) prior to dental implant placement.

Methods: Ten patients underwent conventional and then Spiral CT at 1 mm slice thickness. In six patients (Group A) the pitch was 1:1; the other four (Group B) it was 2:1.

Infiltrative subcutaneous metastases from ovarian carcinoma after paracentesis: CT findings.

Implantation subcutaneous metastases from ovarian cancer are an uncommon event in surgery, and diagnostic procedures such as laparoscopy, fine-needle biopsy, and intraperitoneal catheter access are usually used. Findings of tumor implantations are rarely reported with diagnostic imaging techniques. In this case, an infiltrative subcutaneous metastasis appeared on computed tomography 4 months after paracentesis in a patient with untreated ovarian cancer.

The use of spiral computed tomography in the localization of impacted maxillary canines.

Purpose: To compare spiral CT with conventional radiography in planning the orthodontic treatment of impacted permanent maxillary canines.

Methods: Nineteen patients with 29 malpositioned permanent maxillary canines (15 palatal and 12 buccal impactions, one ectopic and one transposition) were examined with conventional panoramic and lateral cephalometric radiography and with spiral CT (at 1 mm slice thickness, and 1:1 or 2:1 pitch) using multiplanar (MPR) and 3D reconstruction.

Results: Conventional radiography failed to depict root resorption especially on the buccal surfaces of the incisor teeth.