Low-level parental mosaicism in an apparent de novo case of Peutz-Jeghers syndrome.

We report the case of a female found to have mosaicism for mutation in the STK11 gene, with the mutant allele expressed in her gametes, evident by her affected offspring, and in her gastrointestinal tract demonstrated on an excised polyp analysed for diagnosis. Mosaicism for Peutz-Jeghers syndrome (PJS) has been reported in a small number of cases previously but a clinical presentation such as this has not previously been described. This finding of mosaicism was several years after initial investigations failed to identify the same STK11 mutation in this woman whose son was diagnosed with PJS at a young age. This case highlights the importance of considering mosaicism as an explanation for apparent de novo cases of PJS syndrome. It also has implications for genetic counselling, predictive testing and cancer screening.

Can a familial gastrointestinal tumour syndrome be allelic with Waardenburg syndrome?

Familial gastrointestinal stromal tumours (GISTs) are rare but otherwise well-characterized tumour syndromes, most commonly occurring on a background of germline-activating mutations in the tyrosine kinase receptor c-KIT. The associated clinical spectrum reflects the constitutive activation of this gene product across a number of cell lines, generating gain-of-function phenotypes in interstitial cells of Cajal (GIST and dysphagia), mast cells (mastocytosis) and melanocytes (hyperpigmentation). We report a three-generation kindred harbouring a c-KIT germline-activating mutation resulting in multifocal GISTs, dysphagia and a complex melanocyte hyperpigmentation and hypopigmentation disorder, the latter with features typical of those observed in Waardenburg type 2 syndrome (WS2F). Sequencing of genes known to be causative for WS [microphthalmia transcription factor (MITF), Pax3, Sox10, SNAI2 ] failed to show any candidate mutations to explain this complex cutaneous depigmentation phenotype. Our case report conclusively expands the clinical spectrum of familial GISTs and shows a hitherto unrecognized link to WS. Possible mechanisms responsible for this novel cause of WS2F will be discussed.

[Evaluation of results of a series of 58 breast reconstruction after cancer]. / Evaluation des résultats d'une série de 58 reconstructions mammaires après cancer.

The evaluation of 58 breast reconstructions operated in Boucicaut Hospital demonstrated positive result. The authors review the techniques used for contralateral breast symmetrization. The policy generally adapted has been to perform two sequential operations: 1st step: implantation of a prefilled prosthesis and contralateral breast symmetrization; 2d step: reconstruction of areolo-nipple complex and refinement of contralateral breast. Radiotherapy seems to be a problem in reconstruction. A 12% recurrence rate has been quoted in this group. Tram flap has been exceptionaly used by our team, as we tend to prefer the latissimus dorsi myocutaneous flap. Very few expanders have been implanted.

[Treatment of recurrent Dupuytren's disease by scalar incision and firebreak graft]. / Traitement des récidives de la maladie de Dupuytren par incision scalaire et greffe "coupe-feu".

We report our experience of the use of a scalar type incision associated with a total skin graft in the treatment of recurrences of Dupuytren's contracture. This is not an original technique, but one described by Hueston in 1984, which consists of a "Fire Break" skin graft after a simple transverse incision of recurrent Dupuytren's contracture. We attribute the absence of recurrence with this graft to the impossibility of the disease to affect the thin tissue between the skin graft and the underlying tendons. Our series is composed of 25 patients, all male. The majority of these patients had undergone surgery on a single occasion before treatment of recurrences with an average time interval of seven years. In a great majority of cases the little finger was deformed and generally severely (stage III or IV). All of our patients were reviewed with a mean follow-up of 28 months after surgery, and we did not observe any recurrences under the graft. In this series, which remains too small and too recent, 67% of cases presented an acceptable result with nearly complete extension and satisfactory grasp. We do not apply this technique to the treatment of all cases of recurrent Dupuytren's contracture, but we reserve it preferentially for elderly patients, operated on several occasions for ulnar fingers especially the little finger, in digital or digito-palmar forms in which the deformity predominates on the proximal interphalangeal joint with marked digital infiltration.

[A new test for the functional evaluation of the hand and its contribution to the study of toe transfers: the 5 matches test called "Take Five"]. / Un nouveau test d'évaluation fonctionnelle de la main et son apport dans l'étude des transferts d'orteil: le test des 5 allumettes dit "Take Five".

After studying a series of thumbs reconstructed by 2nd toe transfer, we devised a new dexterity test: the "five matches test" or "Take Five Test" (R.S.). This test consists of the standardised timed and comparative pick-up of 5 identical fine objects (matches), permitting a simple and quick evaluation which objectively quantifies dexterity in fine pinches. The specificity of our test is that it is bilateral and comparative providing a narrow range of normality. In fact, a marked variability of time-scores is found between different individuals of a normal population, making it difficult to determine a "normal dexterity" criterion. But in the same person, there is little variability between two successive experiments or between the dominant and non-dominant hands. Examining a reconstructed hand, we have chosen as the "normal dexterity" criterion the time-score of the contralateral spared hand, timed first. The final score (from 0 to 4 points) is based on the difference between time-scores of the 2 hands (delay tested hand/spared hand). The "Take Five Test" (five matches pick-up test) has largely proven its efficiency in studying a series of thumbs reconstructed by 2nd toe transfer (operated on by V.M.). Fine pinch dexterity is satisfactory in 45% of cases (65% when long digits are spared), scoring at least 2 points (delay less than 4 seconds). The average score is 1.6 pts (range: from 0 to 4). This test could prove the functional value of parameters such as phalangeal mobility and a short delay between injury and reconstruction.

[Isolated ulnar nerve lesions. Results and sequelae after treatment at a specialized unit: apropos of 40 cases]. / Plaies isolées du nerf cubital. Résultats et séquelles après traitement en service spécialisé: à propos de 40 cas.

77 patients with an isolated traumatic ulnar nerve lesion were operated on between 1972 and 1982. 40 patients with more than 18 months of follow-up were reviewed with a new clinical quoting. 37.5 p. cent of satisfactory results were achieved with nerve sutures done in emergency, 56.3 p. cent with secondary nerve grafting. Factors influencing the results were age, level of the lesion and use of the microscope. 80 p. cent of the patients recovered a protective sensibility, but only one third discrimination. Patients considered sensory deficit as little cumbersome. Wartenberg's sign was noticed in 60 p. cent of our patients and a claw hand in 46 p. cent. Power grip was only 70 p. cent of the contralateral hand due to poor interosseous muscle recovery. The main disability was an instable thumb metacarpophalangeal joint in 70 p. cent. Subterminal pinch grip was weak and was improved by the transfer of the flexor digitorum superficialis of the ring finger. Cold hypersensitivity was noticed in 73 p. cent of our patients, but its frequency diminished with sensory recovery. Motor deficiencies were the most important and required early tendon transfers in older patients.

[Objective evaluation of the results of interventions for breast hypertrophy]. / Evaluation objective des résultats des interventions pour hypertrophie mammaire.

It would appear to be impossible to compare completely different techniques of mammaplasty performed in very different clinical situations. However, we thought it would be useful to approach the result of mammaplasties from a more "orthopaedic" point of view. Such an approach distinguishes populations of patients with different results and in whom the postoperative assessment must take into account the result obtained, the residual scars and the final breast shape. A formula has been developed after multiple attempts: [formula: see text] This formula expresses positive factors: the quantity of glandular tissue removed (in grams), the final appearance of the scars, the appearance of the overall shape of the two reconstructed breasts and the reappearance of ptosis measured from the edges of the breast below the inframammary sulcus (in the erect position). In this way, it is possible to express these positive factors by the multiplying the scores attributed to each of the factors. For example, a resection of 150 g will be scored as 1.5 and a resection of 1,200 g will be scored as 12, i.e. the weight in grams is simply divided by 100 to give the score for weight. The scar will be scored according to an individual scale of 1 to 5. The shape will also be scored according to an individual scale of 1 to 5. The division factors include the length of the inframammary scar (segment 3); this inframammary vertical line will be included directly in the calculation. In contrast, the length of the horizontal inframammary scar will be divided by 10.(ABSTRACT TRUNCATED AT 250 WORDS)

[Replantations and devascularization. VBS (Vessel-Bone-Skin) emergencies]. / Réimplantations et dévascularisation. L'urgence V.O.P. (Vaisseau--Os--Peau).

The reimplanting activity initiated by Professor Raymond Vilain at Boucicaut Hospital in 1972 allowed emphasizing that, in addition to the reimplantation of a completely severed segment, there existed a parallel activity including microsurgical steps, bone surgery and skin plasties, all of which were gathered under the term of VBS, or Vessels-Bone-Skin, emergencies. Other terms are used (stage 3 fracture with vascular involvement, stage 4 fracture) for the same ultra-emergent pathology, in which many diagnostic problems as to the significance and extent of ischemia are associated with therapeutic issues. The results of an operation performed by one surgeon possessing all the desirable skills and working in a specialist Center allowed demonstrating that the quality of the results was such as could be hoped for: an overall survival rate of about 60%, little second surgery, blood consumption lower than 10 bottles per patient in average. These data represent the major progress made in 15 years. However, the rescuing staff must still be made aware of the importance of diagnosing devascularization in a context of multiple injuries: a VBS emergency involves limbs in which bony continuity, and sometimes even a skin bridge, may still be preserved. The vascular problems cannot be solved without resorting to the microanastomosed flap techniques. Lastly, the staff in charge of this kind of problems must treat upper limbs as well as lower limbs. Utmost surgical strictness is essential to avoid the major complication of such surgery: not only local failure threatening the functional results, but also the vital risks inherent in the reimplantation of a large limb segment. Reimplantation of an autologous limb has largely demonstrated its superiority over prostheses, even the most sophisticated ones.

[Juvenile mammary hypertrophy. Early surgical treatment]. / Hypertrophie mammaire juvénile. Traitement chirurgical précoce.

The elastic and retractile nature of young skin allows glandular reductions to be performed without skin excision for the treatment of mammary hypertrophy in very young girls. These reductions in volume prevent secondary ptosis and stretch marks and are performed via an isolated inframammary incision. The devascularisation induced blocks glandular growth and no recurrence of hypertrophy has been observed in our series of 34 cases with a mean follow-up of 16 months.

[Results of the primary repair of 28 isolated median nerve injuries in the wrist]. / Résultats de la réparation primaire de vingt-huit plaies isolées du nerf médian au poignet.

Based on the study of a homogeneous series of twenty-eight isolated median nerve injuries at the wrist, sutured as an emergency procedure, the authors determined the course and sequelae of this type of nerve lesion with no associated tendon involvement. Repair was associated with epi-perineural suture performed with an operating microscope, immobilisation in slight flexion of the wrist for three weeks and rehabilitation of sensation. 60.7% of patients obtained a good or very good results with better motor recovery than sensory recovery. Nerve contusion, loss of nerve substance with suture under tension and work accidents were factors of poor prognosis.

Estafilococo: el enemigo mas comun / Staphylococcus: the most commmon enemy

Como definir y ensenar las condicionres de maxima seguridad integrando la bacteriologia, la patologia infecciosa y las leyes de la higiene personal

Bacterial flexor tenosynovitis in the hand. A series of 68 cases.

The authors report 68 cases of bacterial tenosynovitis (BT) that is the largest international series dealing with this pathology since the introduction of antibiotics. Their study stresses the connection between the quality of the final result and the stage at which the condition is treated. The speed at which the tenosynovitis becomes established depends on the mechanism of infection. One can dissociate BT by direct inoculation with violation of the tenosynovial sheath, from the BT by diffusion through an undamaged sheath. The former progress within a few hours to a few days, the latter slowly in a few days to a few weeks, with a slower onset masked by the clinical signs of the initial infection. They propose a new classification which allows the choice of proper surgical therapy taking into account the type of onset of the BT and the intraoperative findings.