A new FRDA mouse model [ :YG8s(GAA) > 800] with more than 800 GAA repeats.

Introduction: Friedreich's ataxia (FRDA) is an inherited recessive neurodegenerative disorder caused by a homozygous guanine-adenine-adenine (GAA) repeat expansion within intron 1 of the gene, which encodes the essential mitochondrial protein frataxin. There is still no effective therapy for FRDA, therefore the development of optimal cell and animal models of the disease is one of the priorities for preclinical therapeutic testing.

Methods: We obtained the latest FRDA humanized mouse model that was generated on the basis of our previous YG8sR, by Jackson laboratory [YG8JR, :YG8s(GAA) > 800].

Forehead Widening in Nonsyndromic Scaphocephaly Operated After 12 Months of Age.

Aim And Scope: Our standard management is to operate isolated sagittal synostosis around 4 months of age because of morphological and cognitive outcomes. However, some patients present late and the likelihood of spontaneous remodeling is low in isolated sagittal craniosynostosis operated on after 12 months of age with a limited technique. The preliminary result of a modified technique for forehead remodeling and subtotal calvarial remodeling in nonsyndromic scaphocephalic children with late presentation is presented.

[Secondary surgeries in craniosynostosis and faciocraniosynostosis].

Secondary surgeries for single craniosynostosis surgeries are mainly esthetic refinements rather than functional indications. However, cranioplasties for bone defects correction or insufficient corrections may be undertaken. Management of syndromic craniosynostoses usually requires multiple surgical interventions, the sequence of which might vary per the genetic mutation.

Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts.

Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by deficiency of frataxin protein, with the primary sites of pathology being the large sensory neurons of the dorsal root ganglia and the cerebellum. FRDA is also often accompanied by severe cardiomyopathy and diabetes mellitus. Frataxin is important in mitochondrial iron-sulfur cluster (ISC) biogenesis and low-frataxin expression is due to a GAA repeat expansion in intron 1 of the FXN gene.

[Columella defects: yet a challenge!].

The repair of nasal defects is thought to be the most ancient of facial reconstructive procedures, dating back to at least 3000 BC in India. In spite of the development of nasal reconstruction concepts, leading to remarkable esthetic and functional improvements, columella reconstruction is yet a contemporary challenge. Columella defects may result from trauma, infections, carcinoma resection, syphilis, bilateral cleft lip, etc.

[Scurvy, a re-emerging disease].

Background: Scurvy is the clinical manifestation of vitamin C deficiency. It is historically linked to the era of great maritime expeditions. But it is remerging in Western countries as in France.

[The formation of neurons in the bone marrow, the dream of alchemy in the new millenium].

In rodents, bone marrow contains stem cells that have the potentiality to differentiate into mesodermal and non-mesodermal cells, both in vitro and in vivo. These cells can populate a wide panel of organs such as the liver, the brain, the lungs, the heart..

A comparison of etodolac (Ultradol) with acetaminophen plus codeine (Tylenol #3) in controlling post-surgical pain in vasectomy patients.

The efficacy and safety of etodolac (Ultradol) and acetaminophen plus codeine [A + C (Tylenol #3)] in controlling post-surgical pain were compared in an open-label, randomized, parallel-group outpatient study. Patients who were voluntarily having a vasectomy performed for sterilization were assigned to receive either etodolac 200 mg (20 patients) or A + C (20 patients). All medication was taken as required for up to 7 days.