Cystic fibrosis mortality trends in France.

BACKGROUND: In 1992 France set up a national cystic fibrosis observatory (Observatoire national de la mucoviscidose, ONM) to monitor the state of health of patients on an annual basis. Using the ONM data, this study estimates the main indicators for life expectancy and assesses the total number of cystic fibrosis patients. METHODS: The data for the years 1994 to 2003 are divided into 3-year periods. Life tables are drawn up for these periods, from which mean and median lengths of life are determined. Using the most recent life table, the number of births in 2003 and the incidence of the disease, the total population of patients can be estimated, assuming a stationary population. RESULTS: In 2001-2003, life expectancy at birth of patients registered with the ONM was 39.1 years and median length of life was 36.4 years. These results, substantially better than those of 1994-1996, are linked to improved conditions of patient inclusion in the ONM database, to improvements in their healthcare, but also to the limitations of the life tables. Based on the 2003 data, the total theoretical number of patients is 6490, and coverage by the ONM database is thus 63.2%. CONCLUSIONS: These provisional results demonstrate the need to convert the ONM observatory into a registry providing exhaustive coverage of all patients.     

Less invasive Achilles tendon reconstruction

Background  

The optimal management of chronic ruptures of the Achilles tendon is surgical reconstruction. Reconstruction of the Achilles tendon using peroneus brevis has been widely reported. Classically, these procedures involve relatively long surgical wounds in a relatively hypovascular area which is susceptible to wound breakdown.     

Utility of the sural fasciocutaneous flap for the treatment of chronic osteomyelitis of the distal tibia

Treatment of chronic osteomyelitis of distal tibia is complex. It often requires the association of antibiotic therapy and a surgical procedure. This consists of exhaustive debridement of infected bone and soft tissue which must have adequate cutaneous coverage and vascular supply which enables creating a barrier to microorganisms and greater resistance to infection. Free or pedicled muscular flaps have been the techniques most often used for this type of lesions. Free flaps require a precise microsurgical technique and prolonged surgery. Pedicled muscular flaps do not provide sufficient coverage and vascularisation of the distal tibia for large size defects. The fasciocutaneous flap has been used for the treatment of coverage defects in the perimalleolar area and the heel. We report the utility of this flap as management of chronic osteomyelitis of the distal third of the tibia with complete healing of the infection and correct cutaneous coverage without complications.     

Characteristics of apathy in Parkinson's disease.

The objective of this study was to use the Lille Apathy Rating Scale to assess apathy in a large population of Parkinson's disease (PD) patients and identify several different apathy profiles. One hundred fifty-nine patients with probable PD and 58 healthy controls participated in the study. Apathy was assessed using the Lille Apathy Rating Scale. Motor, cognitive, and depressive symptoms were rated on standardized scales. Data were analyzed using linear regression and multivariate analyses of variance. Thirty-two percent of the PD patients were classified as apathetic. Apathy was more frequent in patients with dementia. The four apathy dimensions contributed differently to the overall severity of the apathetic condition. Action initiation and intellectual curiosity had a marked influence. Linear regression analysis revealed that the apathy level was mainly determined by cognitive impairment, not associated with the severity of motor symptoms, and only associated with the apathy subcomponent of the Montgomery and Asberg Depression Rating Scale. Apathy is highly prevalent in PD patients. Apathy profiles vary according to the clinical presentation of PD. The high prevalence of apathy in PD suggests the involvement of frontal-subcortical circuits. Although the neurochemical substrate of apathy remains poorly characterized, the strong link between apathy and cognitive impairment observed in several studies suggests the participation of nondopaminergic circuits.     

Arthroscopic tarsometatarsal (Lisfranc) arthrodesis

We describe an arthroscopic approach of tarsometatarsal arthrodesis for post-traumatic arthritis. Five tarsometatarsal portals (medial, P1–2, P2–3, P3–4, P4–5) are identified at the junctional points between the metatarsals by means of image intensifier. The first metatarsocuneiform joint is approached through the medial and P1–2 portal. Articular cartilage is denuded and micro-fracture of subchondral bone is performed with an arthroscopic awl. The second metatarsocuneiform joint is approached through the P1–2 and P2–3 portals and the third metatarsocuneiform joint is approached through the P2–3 and P3–4 portals. The articular surfaces are prepared for arthrodesis. The articulations are kept in desired position and transfixed with 4.0 mm cannulated screws. The fourth and fifth metatarsocuboid articulations are rarely included in the procedure. Arthroscopic arthrodesis or tendon arthroplasty of the lateral column can be performed through the P3–4 and P4–5 portals.     

3He MRI in mouse models of asthma.

In the study of asthma, a vital role is played by mouse models, because knockout or transgenic methods can be used to alter disease pathways and identify therapeutic targets that affect lung function. Assessment of lung function in rodents by available methods is insensitive because these techniques lack regional specificity. A more sensitive method for evaluating lung function in human asthma patients uses hyperpolarized (HP) (3)He MRI before and after bronchoconstriction induced by methacholine (MCh). We now report the ability to perform such (3)He imaging of MCh response in mice, where voxels must be approximately 3000 times smaller than in humans and (3)He diffusion becomes an impediment to resolving the airways. We show three-dimensional (3D) images that reveal airway structure down to the fifth branching and visualize ventilation at a resolution of 125 x 125 x 1000 microm(3). Images of ovalbumin (OVA)-sensitized mice acquired after MCh show both airway closure and ventilation loss. To also observe the MCh response in naive mice, we developed a non-slice-selective 2D protocol with 187 x 187 microm(2) resolution that was fast enough to record the MCh response and recovery with 12-s temporal resolution. The extension of (3)He MRI to mouse models should make it a valuable translational tool in asthma research.     

Pullout reattachment of tibial avulsion fractures of the anterior cruciate ligament: a firm,effective suture-tying method using a tensioner

We describe a firm, effective suture-tying method using a tensioner for reattaching tibial avulsion fractures of the anterior cruciate ligament. Our simple method achieves strong, firm reattachment of the fracture. In addition, it prevents fixation loosening during suture tying effectively. Since pullout repair using nonabsorbable sutures is commonly used to fix various avulsion fractures, the tensioner helps attain strong, firm reattachment of avulsion fractures simply and effectively.     

Biochemical Abnormality Associated with Smith-Lemli-Opitz Syndrome in an Infant with Features of Rutledge Multiple Congenital Anomaly Syndrome Confirms that the Latter Is a Variant of the Former

We describe a female infant with morphologic features of Rutledge multiple-congenital-anomaly syndrome (RMCAS) and biochemical features of Smith-Lemli-Opitz syndrome (SLOS). She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral inner epicanthal folds, a broad nasal bridge with slightly anteverted nares and patent choanae, low set ears and complex conchal formation, high-arched palate and thick maxillary alveolar ridges, and micrognathia. Her chest was broad, genitalia were ambiguous, and uterus was bicornuate. Skeletal abnormalities included a hypoplastic appendicular skeleton, post-axial hexadactyly of the right hand and the left foot, syndactyly of bilateral 2nd-3rd toes and left 5th-6th toes, right talipes varus and left talipes valgus, and fused L5-S1 vertebrae. Congenital heart disease consisted of hypoplastic left heart, coronary sinus agenesis, ostium secundum and ostium primum defects, and a thickened septum primum. The lungs were hypolobated and the kidneys manifested oligopapillary hypoplasia. Total colonic Hirschsprung disease was noted microscopically. Analysis of liver tissue taken at postmortem examination revealed the ratio of 7-dehydrocholesterol and cholesterol to be 143 (expected, 0.28 +/- 0.28). Although initially described as a distinct syndrome, RMCAS was merged with the severe form of SLOS, because of significantly overlapping features [Online Mendelian Inheritance in Man (OMIM) #268670]. The biochemical data showing an excess of 7-dehydrocholesterol and low cholesterol in the liver tissue of our case supports this viewpoint.