Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).

Larsen of La Réunion Island syndrome (LRS) is an autosomal recessive condition associated with multiple large joint dislocations, clubfeet, severe dwarfism, and distinctive facial features. LRS is caused by a recurrent homozygous variant in B4GALT7 gene with a founder effect in La Réunion population. Proteoglycans (PG) that are a major component of the extracellular matrix, are composed of a core protein connected to a glycosaminoglycans side chain via a tetrasaccharide linker region.

[Assessment of antibiotic prescriptions in the emergency department of a general hospital. Prospective analysis of 211 prescriptions].

Aim: To study the appropriateness and conformity to antibiotic prescription guidelines in an emergency department and to assess the factors likely to influence them.

Methods: This prospective study included all adult patients visiting the emergency department over a period of 100 days and receiving antibiotic treatment. Two independent specialists in infectious disease assessed the appropriateness of the indications and the treatment's conformity with good practice guidelines.

Pulmonary arteriovenous malformation treated with embolotherapy: systemic collateral supply at multidetector CT angiography after 2-20-year follow-up.

Purpose: To retrospectively evaluate frequency of systemic arterial collateral supply to treated pulmonary arteriovenous malformations (PAVMs) in long-term follow-up with multi-detector row helical computed tomography (CT).

Materials And Methods: Institutional review board approval was obtained, with waiver of informed consent. Thirty-two patients (19 male, 13 female; mean age, 43 years) underwent follow-up multi-detector row helical CT angiography of the chest (collimation, 16x0.

Pulmonary arteriovenous malformations treated with embolotherapy: helical CT evaluation of long-term effectiveness after 2-21-year follow-up.

Purpose: To retrospectively evaluate the long-term results of transcatheter embolotherapy of pulmonary arteriovenous malformations (PAVMs) with helical computed tomography (CT).

Materials And Methods: Neither institutional review board approval nor patient consent was required for this retrospective study. Thirty-eight patients underwent follow-up helical chest CT 2-21 years after successful embolotherapy of 64 PAVMs.

High-resolution computed tomography techniques in diffuse parenchymal lung disease and their application to clinical practice.

The remarkable ability of high-resolution computed tomography (HRCT) to provide sufficient detail of both normal and abnormal pulmonary anatomy requires high-quality examinations with considerable attention paid to the technique. Despite the use of optimal scanning protocols, there are well-known limitations of sequential scanning that explain the recent interest in the use of multislice spiral CT for diagnosing lung diseases in routine clinical practice. A basic knowledge of the most recent developments in spiral CT technology appears a necessary prerequisite for those clinicians, pulmonologists, internists, or thoracic surgeons who are involved in the management of diffuse infiltrative lung diseases.

Systemic collateral supply in patients with chronic thromboembolic and primary pulmonary hypertension: assessment with multi-detector row helical CT angiography.

Purpose: To compare retrospectively the frequency of systemic collateral supply in patients who have chronic thromboembolic pulmonary hypertension with the frequency of systemic collateral supply in patients who have primary pulmonary hypertension by using multi-detector row helical computed tomographic (CT) angiography.

Materials And Methods: For this review, neither institutional board approval nor informed consent was required. Thirty-six consecutive patients, including 22 patients (four men, 18 women; mean age, 46.

Bronchial and nonbronchial systemic arteries at multi-detector row CT angiography: comparison with conventional angiography.

Purpose: To retrospectively evaluate bronchial and nonbronchial systemic arteries at multi-detector row helical computed tomography (CT) compared with conventional angiography in patients undergoing endovascular treatment of hemoptysis.

Materials And Methods: Neither institutional board approval nor informed consent was required. Forty-eight consecutive patients (39 men, nine women; mean age, 55.