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Biomedical subjects

F Codère

Publications and source records attributed to F Codère.

At least 19 recordsLinked to original sources
PubMed1999

Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease.

Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) usually begins with ptosis or dysphagia during the fifth or sixth decade of life. We studied 7 patients with OPMD symptoms starting before the age of 36 years. All were found to be homozygotes for the dominant (GCG)9 OPMD mutation. On average, disease onset was 18 years earlier than in heterozygotes, and patients had a significantly larger number of muscle nuclei containing intranuclear inclusions (INIs) (9.4 vs 4.9%).

Adult↗
PubMed1998

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.

Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease with a world-wide distribution. It usually presents in the sixth decade with progressive swallowing difficulties (dysphagia), eyelid drooping (ptosis) and proximal limb weakness. Unique nuclear filament inclusions in skeletal muscle fibres are its pathological hallmark. We isolated the poly(A) binding protein 2 gene (PABP2) from a 217-kb candidate interval on chromosome 14q11 (B.B. et al., manuscript submitted). A (GCG)6 repeat encoding a polyalanine tract located at the N terminus of the protein was expanded to (GCG)8-13 in the 144 OPMD families screened. More severe phenotypes were observed in compound heterozygotes for the (GCG)9 mutation and a (GCG)7 allele that is found in 2% of the population, whereas homozygosity for the (GCG)7 allele leads to autosomal recessive OPMD. Thus the (GCG)7 allele is an example of a polymorphism which can act either as a modifier of a dominant phenotype or as a recessive mutation. Pathological expansions of the polyalanine tract may cause mutated PABP2 oligomers to accumulate as filament inclusions in nuclei.

Adult↗
PubMed1997

Clinically suspected primary acquired nasolacrimal duct obstruction: clinicopathologic review of 150 patients.

PURPOSE: The incidence of lacrimal sac pathology in patients with clinically suspected primary acquired nasolacrimal duct obstruction is unknown. This is an important issue when considering the potential risk of either conservative nonsurgical management or laser dacryocystorhinostomy, neither of which permits direct visualization and biopsy of the lacrimal outflow apparatus. METHODS: A total of 162 lacrimal sac biopsy specimens were obtained in 150 consecutive patients undergoing external or endonasal dacryocystorhinostomy for clinical primary acquired nasolacrimal duct obstruction from January 1992 to October 1994. RESULTS: A total of 147 patients (98%) had histopathologic findings consistent with inflammation or fibrosis of the lacrimal sac or both. In the remaining three patients, abnormalities included sarcoid granuloma (one patient), oncocytoma (one patient), and lymphoma (one patient). CONCLUSIONS: The incidence of significant pathology of the lacrimal sac in clinically suspected primary acquired nasolacrimal duct obstruction is low. However, these cases can be identified correctly only by routine biopsy of the lacrimal sac during dacryocystorhinostomy.

Adult↗
PubMed1995

The anatomy of Whitnall ligament.

BACKGROUND: The current understanding of the anatomy of Whitnall ligament does not explain its functional role in eyelid movement. This anatomic study was designed to determine the exact relation of Whitnall ligament to the levator muscle and aponeurosis. METHODS: The anatomy of the eyelid was examined by surgical dissection of 20 eyelids undergoing Müllerectomy via a conjunctival approach, anatomic dissection of 20 fresh cadaver orbits, and histologic correlation in four fresh specimens. RESULTS: Whitnall ligament is a sleeve of fibrous tissue with both a superior and inferior component which join medially and laterally before inserting onto the bony orbit. CONCLUSIONS: The authors postulate that this sleeve acts as a mobile fulcrum straddling the underneath surface of the levator aponeurosis and functions to convert the anterior-posterior vector force of the levator to a superior-inferior direction during eyelid movement. This model proposes that when the levator is relaxed, Whitnall sleeve hangs down, allowing the lid to close. When the muscle contracts, the sleeve along with the levator aponeurosis is lifted superiorly in the orbit, enhancing the lifting effect of levator muscle contraction in eyelid elevation.

Eyelids↗
PubMed1994

The effect of fluorescein volume on lacrimal outflow transit time.

The Jones primary dye test is a commonly used test of lacrimal outflow. Some clinicians, however, find it of limited practical significance because of variable outcome and relatively low sensitivity in documenting normal lacrimal excretory function. We hypothesized that an important variable affecting the transit time may be the volume of fluorescein used in the primary dye test. To accurately determine the exact time from insertion of dye into the eye to its appearance in the nose, using a rigid nasal endoscope, we directly visualized the dye as it appeared at the ostium of the nasolacrimal duct. Fifty nasolacrimal outflow systems were examined in 25 normal volunteers. The fluorescein dye transit time was determined using a single drop of fluorescein on one side and multiple drops of fluorescein on the other side. Using a single drop of fluorescein, the median dye transit time was 8 min, compared to 1.4 min using multiple drops. These results suggest that the volume of fluorescein used may be an important factor affecting variability in the outcome of the primary dye test.

Adult↗
PubMed1993

Effect of a topical anesthetic cream (EMLA) in reducing pain caused by infiltration of local anesthetic in eyelid surgery.

EMLA (eutectic mixture of local anesthetics) cream is a topical formulation of a mixture of lidocaine and prilocaine. It has been used to achieve local analgesia after application under an occlusive dressing. We carried out a double-blind randomized controlled clinical trial to assess the effect of 5% EMLA (25 mg/mL of lidocaine and of prilocaine) in reducing the pain caused by infiltration of local anesthetic in eyelid surgery. Pain was assessed by means of a modified visual analogue scale ranging from 0 (no pain) to 10 (excruciating pain) in 25 consecutive patients (average age 65 years) undergoing bilateral eyelid surgery. Clinical significance was defined as a difference in pain scores of 3 or more between EMLA and placebo. The mean pain scores for EMLA and placebo were 3.1 and 4.0 respectively, a nonsignificant difference. The EMLA preparation was found not to be clinically effective in reducing pain caused by infiltration of local anesthetic in eyelid surgery.

Aged↗
PubMed1992

Orbital decompression for Graves' disease: exposure through a modified blepharoplasty incision.

A "transorbital" three-wall decompression through a modified blepharoplasty incision was used to treat 19 orbits for either cosmetic disfigurement or optic neuropathy. In the 14 orbits with disfigurement, surgical retroplacement averaged 5.2 mm; vision improved to 20/40 or better in four of five eyes with optic neuropathy. Complications attributed to the surgery included: acquired strabismus (two transient, one permanent) and infraorbital hypesthesia (one transient, one permanent). This technique's advantages are: 1) a single incision with wide exposure, 2) a low incidence of permanent strabismus, 3) a lateral orbital rim and canthal tendon preservation, and 4) a large reduction in proptosis.

Adult↗