Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species.

In humans, the clinical and molecular characterization of sporadic syndromes is often hindered by the small number of patients and the difficulty in developing animal models for severe dominant conditions. Here we show that the availability of large data sets of whole-genome sequences, high-density SNP chip genotypes and extensive recording of phenotype offers an unprecedented opportunity to quickly dissect the genetic architecture of severe dominant conditions in livestock. We report on the identification of seven dominant de novo mutations in CHD7, COL1A1, COL2A1, COPA, and MITF and exploit the structure of cattle populations to describe their clinical consequences and map modifier loci. Moreover, we demonstrate that the emergence of recessive genetic defects can be monitored by detecting de novo deleterious mutations in the genome of bulls used for artificial insemination. These results demonstrate the attractiveness of cattle as a model species in the post genomic era, particularly to confirm the genetic aetiology of isolated clinical case reports in humans.

An emulsion restores the skin barrier by decreasing the skin pH and inflammation in a canine experimental model.

The aim of this study was to investigate the effect of Douxo(®) Calm Mousse (Sogeval, Laval, France) on restoration of the skin barrier in a canine model of barrier disruption. Tape strips were performed, daily for 6 days, on the lateral thorax of five healthy beagle dogs. Douxo(®) Calm Mousse was applied daily for 5 days to one side of the thorax and the opposite side was left untreated. The effects of treatment were evaluated by measurement of transepidermal water loss (TEWL) and pH and by histological assessment of disrupted skin at various times during barrier repair. Although no effect on TEWL was observed, Douxo(®) Calm Mousse maintained an acidic pH after three applications and reduced skin inflammation, which was most pronounced after five applications. The results of the study suggest that Douxo(®) Calm Mousse exerts a beneficial effect on barrier restoration and on markers of inflammation.

The lipid alterations in the stratum corneum of dogs with atopic dermatitis are alleviated by topical application of a sphingolipid-containing emulsion.

BACKGROUND: Atopic dermatitis (AD) results from an altered skin barrier associated with defects in the lipid composition of the skin. Dogs with AD present similar clinical symptoms to humans, and may be a useful model for investigations into AD. AIM: To analyse the changes occurring in the lipids of the stratum corneum (SC) of dogs with AE after 3 weeks of topical treatment with an emulsion containing ceramides, free fatty acids (FFAs) and cholesterol (skin lipid complex; SLC). METHODS: Nonlesional SC was collected by tape stripping from control and treated areas. Free and protein-bound lipids were purified, and the various classes were isolated by column chromatography, analysed by thin-layer chromatography and assayed. RESULTS: Ceramides, FFA and cholesterol were all found to be lower in the skin of untreated dogs with AD than in normal dogs, and the topical treatment resulted in significantly increased values for ceramides. Conversely, only trace amounts of glucosylceramides were present in normal SC, but a high concentration (27 µg per mg protein) was detected in canine atopic SC, which disappeared after treatment with SLC. There was a heterogeneous distribution of all of the lipids in the different layers of canine atopic SC, which was more pronounced for protein-bound than for free lipids. Following topical treatment, the protein-bound lipid content normalized. CONCLUSIONS: Topical treatment with SLC resulted in a significant improvement of the lipid biosynthesis of keratinocytes in atopic dogs, thereby potentially enabling the formation of a tighter epidermal barrier.

[Modified Risdon approach for non-traumatic ramus surgery]. / La voie d'abord sous-angulo-mandibulaire en dehors de la traumatologie.

INTRODUCTION: The Risdon modified approach, for mandibular surgery, is well adapted to treatment of low subcondylar fractures. According to our experience, this approach with a low rate of complications should also be considered for non-traumatic ramus surgery. MATERIAL AND METHODS: Twenty Risdon modified approaches were used in 11 patients for non-traumatic indications (seven bilateral osteotomies, four unilateral osteotomies, one biopsy, one bone graft). One patient was operated twice with the same approach. RESULTS: In all cases, the planned surgery could be performed using this approach. The only complication was a case of temporary paresis of the facial nerve's mandibular branch. The scar was always considered as quite acceptable. DISCUSSION: As for traumatology, the Risdon modified approach is an improvement for ramus non-traumatic surgery. It has a very low rate of complications, especially for the facial nerve. The intraoral approach avoids scarring, but the resulting exposure is insufficient and requires using a transcutaneous device or endoscopy. In orthognathic surgery, the wide exposure of the lateral aspect of the ramus, the corpus, and the basilar edge, facilitates important mandibular advancement.

Suspected contact scrotal dermatitis in the dog: a retrospective study of 13 cases (1987 to 2003).

OBJECTIVES: The aim of this study was to assess the clinical and aetiological aspects of contact dermatitis of the scrotum in dogs. METHODS: The medical records of 13 dogs with suspected scrotal contact dermatitis were retrospectively included in the study. For each case, historical findings, results of physical and dermatological examination and of avoidance tests as well as follow-up were included. Results of re-exposure tests and patch tests were also included when available. RESULTS: Avoidance tests to various suspected substances such as floor detergents, bleach, cement, laundry detergent and plastic fabric were performed and led to clinical improvement in all patients. Provocative re-exposure was performed in six cases, with five positive responses. Patch tests were undertaken in three of the five re-exposed cases, with two responding positively. CLINICAL SIGNIFICANCE: Scrotal skin is thin and with few hair follicles, and is therefore very susceptible to contact dermatitis. A range of substances can induce contact dermatitis. The diagnosis of contact dermatitis is made by results of avoidance and/or provocation tests and/or patch tests. Once an aetiological agent has been identified, treatment is straightforward consisting of avoidance of this agent.

[Poland's syndrome in women: Therapeutic indications according to the grade. Apropos of 11 cases and review of the literature]. / Syndrome de Poland chez la femme : indications thérapeutiques en fonction du stade. À propos de 11 cas et revue de la littérature.

INTRODUCTION: Correction of chest and breast abnormalities in Poland's syndrome differs among authors. The aim of this study is to discuss surgical protocols according to the grade of Poland's syndrome in women. PATIENTS AND METHODS: The authors present a series of 11 women with Poland's syndrome among which nine were operated. Several surgical techniques were used. Cosmetic results were analysed according to the treatment and grade. Median follow up is 9 years. RESULTS: In grade I, a round breast implant seems to be the best choice. In grade II, a latissimus dorsi flap combined with a breast implant gives better results than a breast implant alone. In grade III, breast and chest reconstruction are linked. The authors present a case of costal reconstruction followed by an expansion without a latissimus flap. CONCLUSION: Many authors recommend a latissimus flap combined with a breast implant in severe grades of Poland's syndrome. Using this flap is not always possible nor mandatory. According to soft tissue quality, expansion may be an alternative way or a temporary solution during growth.

[Diagnosis and therapy of a dog with an atypical eosinophilic cellulitis]. / Diagnostic et traitement d'une cellulite éosinophilique atypique chez un chien.

A 6 years old female bernese mountain dog was seen for a nodular and erythemato-edematous dermatosis resistant to therapy. The histopathological exam showed a eosinophilic cellulitis with flame figures, which are caracteristic for the Wells' syndrome in human. A combined treatment with marbofloxacin and prednisolone brought first a stabilisation of the disease. The cutaneous lesions worsened however at the end of the antibiotic treatment, after reduction of the steroid dosage. The prescription of dapsone did not change the clinical image, which motivated the owner to euthanize the dog. This case report is presented to make practitioners aware of a rare but particularly challenging dermatological problem.

Proliferative and necrotising otitis in a kitten: first demonstration of T-cell-mediated apoptosis.

Otitis externa in cats is relatively uncommon. This report describes a case of a rare, visually distinctive, proliferative and necrotising otitis in a three-month-old Persian kitten. The cat had proliferative, erythematous and necrotic tissue covering most of the proximal pinnae and vertical ear canals. On histopathological examination, the most striking feature was the existence of scattered apoptotic-appearing keratinocytes within severely hyperplastic epithelium. For the first time, immunohistochemistry was used to show a closed association between CD3(+) T cells and caspase-3 stained keratinocytes, consistent with a keratinocyte apoptosis by epidermal-infiltrating T cells. Treatment was initiated using topical tacrolimus twice daily and an ear cleanser once daily. A marked improvement was observed after 10 days of treatment and the lesions completely resolved over a period of three weeks. The origin of T cells directed against keratinocytes is currently unknown.

Effects of a topically applied preparation of epidermal lipids on the stratum corneum barrier of atopic dogs.

Canine atopic dermatitis (AD) is characterized ultrastructurally by disorganization of the lamellar lipids (LLs) in the stratum corneum (SC), similar to that seen in the human disease. This study, based on the examination of biopsy samples, was designed to investigate the expression of canine epidermal lipids and to evaluate quantitatively, by means of electron microscopy and ruthenium tetroxide post-fixation, the effect of a new topical skin lipid complex (SLC) on the structural deficit in the skin of five dogs with AD. The non-lesional skin of atopic dogs differed from the skin of healthy dogs in that the LLs were reduced in number and highly disorganized. After repeated applications of SLC to the non-lesional skin of dogs with AD, numerous LLs were observed in the deepest part of the SC, occupying 74% of the inter-corneocyte space, while they accounted for only 31.8% of the inter-corneocyte space in comparable biopsy samples from untreated (control) skin of the same dogs. In contrast, the LLs filled 89.5% of the deepest inter-corneocyte spaces in the SC of healthy dogs. Many keratinosomes were observed at the interface between living epidermis and SC after treatment of non-lesional AD skin. Stacks of short LL discs represented 57.6% of the total LLs found in the newly formed SC compactum in the treated atopic dogs. It is suggested that the treatment with SLC stimulated the production and secretion of endogenous SC lipids, contributing to the formation of an improved epidermal barrier.

Determination of the depth of excision using a dermatome (Aesculap) to export all hair follicle bulbs from a donor site in the dog.

The aim of the study was to determine the depth of excision using a dermatome to excise all hair follicle bulbs from the donor site. Partial-thickness skin samples of different depth, ranging from 0.4 to 1 mm, were excised using a dermatome (Aesculap) from the dorsal aspect of the trunk of the dog. Biopsies, using a 6-mm biopsy punch, were performed in the centre of each donor site and excised sample. They were processed routinely for histological examination and the aspect of the hair follicles was observed. Split-thickness skin grafts of >or=0.7 mm deep performed with a dermatome contain the entire hair follicle.

Bilateral parieto-occipital dermoid sinuses in a Rottweiler.

Bilateral dermoid sinuses were identified on the parieto-occipital region of a Rottweiler. Diagnosis was confirmed by histological examination after successful complete surgical resection. The dermoid sinuses were independent with separate tracts. This unusual parasagittal location can be explained by craniofacial development: dermoid sinuses on the head could occur along the lines of embryological fusion and not only in the sagittal plane. A hypothesis of an origin at the level of the suture between the parietal and interparietal bones is possible in this case.

Localised sarcoptic mange in dogs: a retrospective study of 10 cases.

The authors report 10 cases of localised sarcoptic mange in dogs. In each case, lesions were localised to one precise area of the skin. Pruritus was present in nine cases and absent in one. Affected areas were the feet (one case), the face and/or the pinnae (six cases), the abdominal skin (one case), the flank (one case) and the lumbar area (one case). The types of lesions were erythema, papules, lichenification, scales, crusts and alopecia. Parasites were found in all cases except one, in which anti-immunoglobulin G Sarcoptes serology was positive. The acaricidal treatments given were lindane, ivermectin or selamectin and were all successful.

Prospective study of bacterial overgrowth syndrome in eight dogs.

Eight dogs with cutaneous lesions, clinical signs and cytological findings compatible with bacterial overgrowth syndrome were compared with four healthy dogs. The affected dogs were treated for 28 days with 30 mg/kg/day cephalexin. The results showed that the syndrome was a superficial cutaneous disorder characterised by marked pruritus, greasy seborrhoea, offensive odour, erythema, lichenification, hyperpigmentation, excoriations and alopecia involving principally the ventral aspect of the body, but no papules, pustules, epidermal collarettes or crusts; it was caused by overgrowths of Staphylococcus intermedius all over the body surface. Histopathological findings included a superficial, perivascular, hyperplastic and spongiotic dermatitis with a mixed inflammatory infiltrate, but no lesions suggestive of a true pyoderma. In the affected dogs, anti-staphylococcal immunoglobulin G levels were high, but anti-staphylococcal immunoglobulin E levels were low, suggesting that staphylococcal hypersensitivity is not the underlying pathogenic process. The antibiotic treatment improved the condition of all the dogs, but five of the eight had an underlying allergic skin disease.

Chronic eosinophilic dermatitis in the scrotal area associated with stephanofilariasis infestation of charolais bull in France.

A species of stephanofilaria is recorded as the cause of chronic eosinophilic dermatitis in the scrotal area of one charolais bull in France. Macroscopical and histopathological description of the lesion are given with a brief description of the parasite.

The efficacy of an antiseptic and microbial anti-adhesive ear cleanser in dogs with otitis externa.

A new antimicrobial ear cleanser was evaluated for the treatment of bacterial and yeast ear infection in dogs. Forty-five dogs with erythemato-ceruminous or purulent otitis externa were randomly allocated to two treatment groups: reference ear cleanser (Epiotic, Virbac) or test ear cleanser (Epiotic Advanced, Virbac). Ear cleansing was performed twice daily for 2 weeks, and no other treatment was allowed. By week 2, clinical (exudate quantity, erythema, stenosis, excoriation, and odor) and discomfort (pain, ear scratching, and head shaking) scores were significantly decreased (P < .0001 for all) and no microbial overgrowth could be detected in 25 (64.1%) and 32 (68.1%) ears treated with Epiotic and Epiotic Advanced, respectively. The new pH-balanced, propylene glycol-free test ear cleanser, which incorporates microbial adhesin-blocking carbohydrates, proved as effective as the reference acidic formula.

Cytotoxicity in vitro analysis of ceramic materials for ''metal free'' prosthetic substructures.

AIM: The aim of this study was to investigate the in vitro cytotoxicity of 5 ceramic materials for metal-free fixed prosthodontics: In-Ceram, Cergo, IPS Empress II, Cercon ZrO2, Finesse All Ceram compared each other and to commercially pure Titanium (CpTi). METHODS: The materials, prepared directly from manufacturers as 10 mm diameter and 3 mm thickness disks, have been tested following the ISO 10993-l guidelines, performing the in vitro cytotoxicity test with the use of mouse's cells, fibroblasts L-929, isolated by muscular tissue and cultured in an appropriate medium. The MTT test has been used to evaluate the cell viability through the succinate dehydrogenase enzyme activity. The originality of this investigation is that all the materials examined have been tested under the same conditions: the cytotoxicity test has been performed on these materials at the same time, in the same period, under the same conditions of temperature and humidity and by the same operator. RESULTS: Not all tested materials were free from cytotoxicity. Cercon, within the limits of this in vitro study, showed the lower cytotoxicity. CONCLUSIONS: This in vitro study suggested that ceramic materials for metal free prosthetic substructures are in competition with the CpTi which is very used in implant prosthodontics.

[An in vitro study of the tensile strength of a new titanium root post with respect to the type of luting cement used]. / Studio in vitro della resistenza alla trazione di nuovo perno endocanalare in titanio in relazione al tipo di cemento utilizzato.

BACKGROUND: Assessing the retentive capabilities of a new titanium root post (Optipost, Komet-Gebr. Brasseler, GmbH and Co. KG Lemgo, Germany) with a decreasing diameter shape (turret like) and how these can be improved by the choice of fixing cement. METHODS: The tensile strength was assessed in relation to the type of cement used. The following cements were tested: Compolute composite cement (Espe), C/B Crown & Bridge Luting Composite (Bisco), Diamond Link cement (DRM) with Harvard cement as a control. The cementing procedures laid down by the manufacturers were followed in the case of each cement. The results of the traction tests were analysed and compared statistically and a SEM evaluation of the root/cement and cement/post interface was carried out. RESULTS: The results showed that the highest absolute mean value (best performance) was Diamond Link cement (46.48+/-14.31 kg) which also came out best in the statistical analysis (Scheffe Test p=0.007). Analysis of the samples at the SEM confirmed the results of the traction tests. CONCLUSIONS: The characteristic <> form of the Optipost root post and the sanding of the surface would appear to be important factors which, together with the adhesive cementing technique, lead to a high decementing resistance.

Therapy of difficult cases of canine pyoderma with marbofloxacin: a report of 39 dogs.

Thirty-nine dogs with severe and/or recurrent lesions of pyoderma were treated with marbofloxacin at an average dosage of 2.12 mg/kg bodyweight, once daily, for time periods varing from 10 to 213 days. Forty-seven strains of bacteria, isolated from 34 cultures, were tested for sensitivity to various antibiotics. At day 0, no resistance to marbofloxacin was found, but one refractory case, a strain of Staphylococcus intermedius resistant to marbofloxacin, was cultured at day 28. Thirty-three dogs (84.6 per cent) showed an excellent response (cure), one (2.6 per cent) a clear improvement and one (2.6 per cent) a smaller improvement, while the remaining four dogs showed no response after 11 to 60 days. Fifteen dogs (45.5 per cent) relapsed over the follow-up period of three to 191 days, but none of the dogs in the study exhibited any adverse effects.