Search for a genetic cause in children with unilateral isolated microtia and congenital aural atresia.

PURPOSE: Microtia describes a spectrum of auricular malformations ranging from mild dysplasia to anotia. A vast majority of microtia patients demonstrate congenital aural atresia (CAA). Isolated microtia has a right ear predominance (58-61%) and is more common in the male sex. Isolated microtia is a multifactorial condition involving genetic and environmental causes. The aim of this study is to describe the phenotype of children with unilateral isolated microtia and CAA, and to search for a common genetic cause trough DNA analysis. METHODS: Phenotyping included a complete clinical examination. Description on the degree of auricular malformation (Weerda classification-Weerda 1988), assessment for hemifacial microsomia and age-appropriate audiometric testing were documented. Computerized tomography of the temporal bone with 3-D rendering provided a histopathological classification (HEAR classification-Declau et al. 1999). Genetic testing was carried out by single nucleotide polymorphism (SNP) microarray. RESULTS: Complete data are available for 44 children (50% was younger than 33 days at presentation; 59.1% boys; 72.7% right ear). Type III microtia was present in 28 patients. Type 2b CAA existed in 32 patients. All patients had a normal hearing at the non-affected side. Genome wide deletion duplication analysis using microarray did not reveal any pathological copy number variant (CNV) that could explain the phenotype. CONCLUSIONS: Type III microtia (peanut-shell type) in combination with a type 2b CAA was the most common phenotype, present in 23 of 44 (52.3%) patients with isolated unilateral microtia. No abnormalities could be found by copy number variant (CNV) analysis. Whole exome sequencing in a larger sample with a similar phenotype may represent a future diagnostic approach.

Computed tomographic findings in dogs with suspected aspiration pneumonia: 38 cases (2014-2019).

OBJECTIVES: To describe computed tomographic (CT) findings in dogs diagnosed with aspiration pneumonia and to assess for any correlation with patient outcome. MATERIALS AND METHODS: Retrospective analysis of 38 cases with a presumptive diagnosis of aspiration pneumonia at two UK referral centres. Medical records were reviewed for signalment, history, physical examination and clinicopathologic data. CT examinations of the thorax were reviewed by the European College of Veterinary Diagnostic Imaging board-certified radiologist for all dogs to describe the characteristics and distribution of the pulmonary lesions. RESULTS: The most common CT findings were lung lobe consolidation associated with air bronchograms (100%) followed by ground-glass attenuation (89.4%), bronchial wall thickening (36.8%), bronchiolectasis (31.5%) and bronchiectasis (15.7%). Large-breed dogs were overrepresented. Duration of hospitalisation ranged between 0 and 8 days (mean 3 days). Overall, 89.4% of dogs survived the aspiration event and were discharged from the hospital. The four dogs that did not survive to discharge had five or more lobes affected on CT. CLINICAL SIGNIFICANCE: CT findings in dogs with aspiration pneumonia are described. CT is a useful imaging modality to diagnose aspiration pneumonia.

Preoperative computed tomography, surgical treatment and long-term outcomes of dogs with abscesses on migrating vegetal foreign bodies and oropharyngeal stick injuries: 39 cases (2010-2021).

OBJECTIVES: This study evaluated success rates of surgical treatment of head and neck abscesses and draining tracts for suspected migrating vegetal foreign body and oropharyngeal penetrating injuries, and compared the outcomes according to whether a vegetal foreign body was identified in preoperative computed tomography (CT) examination. MATERIALS AND METHODS: This retrospective study involved 39 dogs that underwent CT and subsequent surgical exploration of abscesses and/or draining tracts in the head and neck, in a single institution between 2010 and 2021. Recorded data included signalment, history, physical examination, CT and surgical findings. The postoperative follow-up period was at least 8 months. Cases were classified according to whether a foreign body was identified on CT or was only suspected because of the presence of cavities and/or draining tracts on CT. RESULTS: A vegetal foreign body was identified on CT in 11 of 39 cases and later confirmed at surgery in 10 cases. In 28 of 39 cases, a vegetal foreign body was not identified on CT, but in seven of these 28 cases it was found at surgery. Resolution of clinical signs was achieved in 11 of 11 cases when a vegetal foreign body was identified on CT and in 26 of 28 cases without a foreign body identified on CT. Two cases of recurrence were observed in animals in which no foreign body was detected. CLINICAL SIGNIFICANCE: In this population of dogs undergoing surgery after preoperative CT scan, we observed resolution of clinical signs after a single surgical procedure in 95% of the cases. All animals in which a foreign body was identified were cured.

[Severe vascular complications of Le Fort I osteotomy]. / Complications vasculaires graves de l'ostéotomie de Le Fort I.

INTRODUCTION: Le Fort I osteotomy is a common orthognathic procedure. This surgery presents risk of severe vascular complications because of local anatomy. The aim of our study was to collect data on vascular complications of Le Fort I osteotomies performed in our department, describe the diagnostic and therapeutic aspects, and discuss prevention. PATIENTS AND METHODS: A retrospective analysis was made on the files of patient having undergone Le Fort 1 osteotomy, between 1998 and 2007. Severe vascular complications were recorded, defined as postoperative hemorrhagic or ischemic complications severe enough to require a specific procedure. RESULTS: Nine hundred and sixteen patient files were included (39% male and 61% female patients, mean-age: 24.42 years; range: 13 to 59 years). Five patients presented with severe hemorrhagic complication. There was no ischemic complication. Three hemorrhagic episodes occurred in the immediate postoperative phase. In two cases, delayed hemorrhagic complication occurred, diagnosed as a pseudo-aneurysm by angiography. These were treated by hyperselective embolization. DISCUSSION: Vascular complications of Le Fort I osteotomies are rare (0.55% in our series). They are most frequently hemorrhagic complications.

Diagnostic accuracy of ultrasonography to detect hepatic and splenic lymphomatous infiltration in dogs and cats.

OBJECTIVES: To determine the diagnostic accuracy of ultrasonography in the detection of lymphomatous infiltration of the liver and spleen in a population of dogs and cats with lymphoma. To determine if specific ultrasonographic features of the liver and spleen in dogs are associated with lymphomatous infiltration or a specific immunophenotype of multi-centric lymphoma. MATERIALS AND METHODS: A blinded retrospective evaluation of ultrasonographic images of the liver and/or spleen in dogs and cats with cytologically or histologically confirmed lymphoma was performed by two board-certified veterinary radiologists. RESULTS: A total of 161 animals met the inclusion criteria, comprising 132 dogs and 29 cats. Ultrasonography had a sensitivity, specificity, accuracy, positive predictive value and negative predictive value of 16.7%, 91.0%, 55.9%, 62.5% and 55.0% for the detection of lymphomatous infiltration of the liver, and 73.1%, 93.9%, 82.6%, 93.4% and 74.7% for the spleen. In dogs, an ultrasonographically normal liver was associated with not having lymphomatous infiltration, leopard-spotted splenic parenchyma and splenomegaly were independently associated with lymphomatous infiltration and leopard-spotted splenic parenchyma was also associated with the B cell immunophenotype of multi-centric lymphoma. CLINICAL SIGNIFICANCE: Ultrasonography of the spleen and liver is specific but not sensitive in the detection of lymphomatous infiltration. A leopard-spotted splenic parenchyma in dogs is highly specific for lymphomatous infiltration and in this population predicted a specific immunophenotype of multi-centric lymphoma.

Clinical and diagnostic imaging findings in dogs with atrial appendage aneurysm: 7 cases (2014-2020).

INTRODUCTION/OBJECTIVE: Atrial appendage aneurysm in dogs is a rare condition and has not been well described. The aim of this study is to describe clinical and diagnostic imaging findings, especially computed tomography (CT), of atrial appendage aneurysms in dogs. ANIMALS: Seven client-owned dogs with a presumptive diagnosis of left or right atrial appendage aneurysm. MATERIALS AND METHODS: Retrospective study. Medical records were searched to identify dogs with a presumptive diagnosis of left (LAAA) or right atrial appendage aneurysm (RAAA). Signalment, history, examination findings, diagnostic test results, and imaging procedures were reviewed. Archived diagnostic images were retrieved and evaluated by two board-certified radiologists and a board-certified cardiologist. Data analysis was descriptive. RESULTS: Six cases were diagnosed with RAAA and one with LAAA with a median age of 8 years. Five affected dogs were small to medium-breed male dogs. All dogs underwent a thoracic CT examination for various reasons and all cases of RAAA were incidental findings. CT was useful to identify and assess the atrial appendage aneurysm, as well as neighboring structures, although possible pericardial defects could not be visualized. Five dogs had a concurrent echocardiographic examination, which successfully identified the LAAA and two RAAA. CONCLUSIONS: This case series described the clinical and CT findings in seven dogs with atrial appendage aneurysm, as well as echocardiographic findings in five of these cases. Right atrial appendage aneurysms appear to be mainly incidental findings. CT seems to be more sensitive than echocardiography in the detection of atrial appendage aneurysm.

Treatment of nasal tumours in dogs: a review.

Nasal tumours are common neoplasms in dogs and often represent a diagnostic and therapeutic challenge due to their confined location within the nasal cavities. The main goal of this review is to extract the most relevant information from a wide and often confusing evidence-based medicine on the treatment of canine nasal tumours and conclude with current recommendations. This report highlights the different therapeutic modalities available and describes their technical aspects, interests and limitations. Megavoltage radiotherapy, as the most recent treatment and standard of care, is particularly examined, especially the different types of radiotherapy units, the main protocols used and their advantages and limits. Newer and non-conventional treatments are also discussed.

Comparison of the spread of two different volumes of contrast medium when performing ultrasound-guided transversus abdominis plane injection in dog cadavers.

OBJECTIVES: To compare, via CT imaging, the spread of different volumes of diluted iodinated contrast medium in the transversus abdominis muscle plane of dog cadavers. METHODS: Prospective, randomised study. An electro stimulation or a SonoTAP needle was inserted in plane with the ultrasound beam in the fascia between the internal oblique and transversus abdominis muscles. A test dose of 1 ml of diluted contrast (30 mg/mL iohexol) was injected to confirm positioning, followed by 0 · 5 mL/kg (n=14) or 1 mL/kg (n=12) and the distribution of the fluid compared. RESULTS: Contrast medium was identified exclusively in the transversus abdominis plane in 19 of 26 dogs. In one dog, the contrast lay between the external and internal oblique muscles and partially in three dogs. Intraperitoneal contrast was detected in 6 of 26 dogs (23%). No significant differences were found in the dorso-ventral or cranio-caudal spread or area of distribution but a significant difference was found in the transverse spread. There was an association between poor ultrasound visualisation of the tip of the needle and intraperitoneal injection. CLINICAL SIGNIFICANCE: Injection of 1 mL/kg of diluted contrast did not result in wider cranio-caudal spread in the transversus abdominis muscle plane of dog cadavers when compared with 0 · 5 mL/kg. Intraperitoneal injection is a risk and might be reduced with good needle visualisation.

Stereotactic core needle biopsy of nonpalpable breast lesions: initial experience with a promising technique.

OBJECTIVES: To evaluate the correlation between the pathological findings of stereotactic core needle biopsy (SCNB) and the prebiopsy mammographic findings, as well as the pathological findings of lesions that were subsequently removed by surgical excision. DESIGN: A retrospective review of 97 consecutive patients who underwent 100 SCNBs of suspicious nonpalpable mammographic lesions. The criterion standard is surgical excisional biopsy with needle localization. Mammographic findings were graded according to the American College of Radiology Breast Imaging Reporting and Data System. The pathological findings of SCNB were categorized into 4 groups: benign and specific, benign and nonspecific, premalignant, and malignant. Surgical excision of the lesion was performed if the pathological finding on SCNB was nonconcordant with the prebiopsy mammogram and when premalignant or malignant lesions were found. The pathological findings of lesions that were subsequently removed by surgical excision were compared with those of SCNB. SETTING: Community-based private multispecialty ambulatory practice. PATIENTS: A population-based sample composed of 97 patients who had grade III, IV, or V lesions on routine screening mammograms. INTERVENTION: Stereotactic core needle biopsy of nonpalpable mammographic lesions. MAIN OUTCOME MEASURES: Percentage of patients whose SCNB results were concordant with the mammographic findings and the pathological findings on subsequent surgical excision. RESULTS: Concordance between SCNB and mammography occurred in 97% of biopsy specimens. Concordance between the pathological findings of SCNB and those of surgically excised lesions occurred in 92.5% of biopsy specimens. We had 1 false-negative result. We had no false-positive diagnosis of cancer with SCNB. CONCLUSION: On the basis of accumulating literature and our own initial experience, SCNB is a promising, safe, and cost-effective procedure.

[Carpal tunnel syndrome. Electrophysiologic aspects of the natural course and after treatment]. / Syndrome du canal carpien. Aspects électrophysiologiques de l'évolution naturelle et après traitement.

Fifty-eight cases of carpal tunnel syndrome confirmed by electromyography by combined studies of motor and sensory conduction of the median nerve at the wrist have been the subject of electrical studies to assess spontaneous changes and progress after treatment. Spontaneous progress in 9 cases showed an absence of changes in electromyographic findings in general and the possibility of definite improvement or rapid spontaneous worsening. Progress after local corticosteroid injections showed a statistically significant improvement after 1 to 2 months but they also showed an overall progressive return to the previous values in 6 to 12 months. Again, progress may be either clearly favourable or unfavourable. The injection seemed to alter the natural progress only very slightly. Only after operative treatment in 17 cases was there a very obvious and often rapid statistically significant improvement. This improvement was lasting and continued for at least up to a year.

[Horizontal cubito-radial pinning in fractures of the distal radius including a postero-internal fragment]. / Brochage horizontal cubito-radial dans les fractures de l'extrémité inférieure du radius comportant un fragment postéro-interne.

The authors describe 68 articular fractures of the lower end of the radius in which a postero-medial accessory fragment was displaced. They have made a study of the anatomy and fibrous connections of the fragment and conclude that this fragment is best maintained reduced by a transverse pin passed from the ulna towards the radius. They attach great importance in such fractures to injury to the triangular radio-ulnar ligament and to inferior radio-ulnar dislocation.

[Chronic internal metacarpophalangeal sprains of the thumb. Anatomo-clinical classification and therapeutic consequences]. / Entorses invétérées métacarpo-phalangiennes internes du pouce. Classification anatomo-clinique et conséquences thérapeutiques.

In the light of a physiopathological study of severe medial strain of the metacarpophalangeal joint of the thumb in 20 cadaver hands, the authors propose a correlation between anatomical and clinical findings and a classification derived from it: Stage I: rupture of one fascicle of the collateral ligament. Passive valgus mobility of less than 15 degrees. The ruptured ends of the ligament remain in contact. Stage II: rupture of both fascicles of the ligament. Passive valgus and supination mobility of the metacarpophalangeal joint of 20 to 40 degrees. Interposition of the dorsal digital expansion between the ruptured ends of the ligament. Abnormal movements can be corrected by applying tension to the dorsal digital expansion. Stage III: rupture of both fascicles of the collateral ligament and the dorsal digital expansion. Tension from the thenar muscles causes abnormal movement and produces a fixed flexion of the metacarpophalangeal joint with hyperextension of the interphalangeal joint (Z-shaped thumb). From this the authors determine the operative indications and suggest a palliative ligamentoplasty to restore the anatomy as much as possible.

Axial rotation of the first metatarsal head in a normal population and hallux valgus patients.

HYPOTHESIS: Does metatarsal pronation exist and, if so, what is its impact? INTRODUCTION: Hallux valgus is a deformity associating angulation and a rotational component. The present study sought to investigate the nature and origin of the coronal plane displacement. MATERIALS AND METHODS: A prospective single-center radiological and anatomic study was conducted on 100 feet operated on for hallux valgus. Baseline X-ray determined the preoperative position of the 1st metatarsal head in the coronal plane. The range of motion (ROM) of the cuneometatarsal joint in pronation-supination was measured peroperatively. An anatomic study investigated possible diaphyseal torsion. RESULTS: Mean radiologic pronation in hallux valgus was 12.7° (range, 0°-40°). Cuneometatarsal rotational ROM was determined by adding peroperative ROM in pronation (mean, 9.3°; range, 0°-30°) and in supination (mean, 8.7°; range, 0°-20°). Intermetatarsal divergence showed no correlation with radiologic pronation or ROM in pronation. Radiologic pronation showed no correlation with peroperative ROM in pronation. Pronation of the metatarsal head was never observed without associated sesamoid pronation; the latter, however, was in some cases observed without the former. Twenty randomly selected metatarsal cadaver specimens from the anatomy laboratory of the University of Nice (France) showed diaphyseal torsion in 80% of cases, with the metatarsal head in neutral position or in supination with respect to the base. DISCUSSION: In hallux valgus, 1st ray pronation appears to be systematic, in contrast to the typical supination found in the general population. Metatarsal rotation is always associated with sesamoid rotation, whereas the converse is not the case: displacement of the sesamoids appears to displace the metatarsal head via the metatarsosesamoid ligaments. This "drive-belt" effect, however, varies in its mechanical properties and the transmission is imperfect and likely subject to progressive ligament stretching, so that head rotation does not exactly follow and may even become independent of the sesamoid displacement. Radiologic and clinical rotation thus do not match any longer. The anatomic study showed that, while diaphyseal torsion cannot be ruled out, the metatarsal pronation mainly derives from cuneometatarsal joint rotational instability, the evolution of which does not parallel lateral instability, no correlation being found between degree of varus and rotational instability. CONCLUSION: The present study found metatarsal pronation to be associated with hallux valgus, making a preoperative AP view useful; the underlying mechanism was generally cuneometatarsal instability. Although difficult to specify exactly without correlation between radiological and clinical data, any such pronation raises the question of whether replacing the metatarsal head on its sesamoid supports is sufficient to achieve stability in all planes, or whether on the contrary derotation should be associated to metatarsal valgization osteotomy to restore horizontal support. LEVEL OF EVIDENCE: Level IV.

Flocculation onset in Saccharomyces cerevisiae: the role of nutrients.

AIMS: To examine the role of the nutrients on the onset of flocculation in an ale-brewing strain, Saccharomyces cerevisiae NCYC 1195. METHODS AND RESULTS: Flocculation was evaluated using the method of Soares, E.V. and Vroman, A. [Journal of Applied Microbiology (2003) 95, 325]. For cells grown in chemically defined medium (yeast nitrogen base with glucose) or in rich medium (containing yeast extract, peptone and fermentable sugars: fructose or maltose), the onset of flocculation occurred after the end of exponential respiro-fermentative phase of growth being coincident with the attainment of the lower level of carbon source in the culture medium. Cells, in exponential respiro-fermentative phase of growth, transferred to a glucose-containing medium without nitrogen source, developed a flocculent phenotype, while these carbon source starved cells, in the presence of all other nutrients that support growth, did not flocculate. In addition, cells in exponential phase of growth, under catabolite repression, when transferred to a medium containing 0.2% (w/v) of fermentable sugar (fructose or maltose) or 2% (v/v) ethanol, showed a rapid triggering of flocculation, while when incubated in 2% (v/v) glycerol did not develop a flocculent phenotype. CONCLUSIONS: The onset of flocculation occurs when a low sugar and/or nitrogen concentration is reached in culture media. The triggering of flocculation is an energetic dependent process influenced by the carbon source metabolism. The presence of external nitrogen source is not necessary for developing a flocculent phenotype. SIGNIFICANCE AND IMPACT OF THE STUDY: This work contributes to the elucidation of the role of nutrients on the onset of flocculation in NewFlo phenotype yeast strains. This information might be useful to the brewing industry, in the control of yeast flocculation, as the time when the onset of flocculation occurs can determine the fermentation performance and the beer quality.

[Foreign body reaction in carbon fiber prosthesis implantation in the knee joint--case report and review of the literature]. / Fremdkörperreaktion bei Karbonfaserstiftimplantation im Kniegelenk--Kasuistik und Literaturübersicht.

We present the clinical radiological and pathological data of a patient who underwent carbon fiber implantation of the right knee. Within half a year a total knee replacement had to be performed due to persistent pain. Apart from the intraoperative, macroscopically visible, massive sclerosis around the drill holes and an obvious synovial reaction, we histopathologically found a severe granulomatous foreign body reaction around the carbon fibers. Experimental data point toward a negative influence of a foreign body reaction on attempted cartilage repair. The implantation of carbon fibers can be recommended neither for biomechanical nor for pathophysiological reasons. Before this treatment can be recommended, prospective randomized trials are mandatory.

[Scapholunate synostoses within the framework of congenital carpal synostoses]. / Synostoses radio-scapho-lunaires dans le cadre des synostoses carpiennes congénitales.

Modality of appearance in fetal life. Racial (certain) and congenital (probable) predisposing factors. X-ray discovery of radioscapholunate fusion after minor sprain of the wrist in a young 22 year old woman otherwise without past history. Functional study of the wrist. Analysis of six similar observations reported to date.

[Historical development of sports orthopedics]. / Geschichtliche Entwicklung der Sportorthopädie.

The history of German sports medicine was decisively influenced by the surgeon August Bier at the beginning of the twentieth century. Initially, general medical and physiological problems were emphasized. Individual treatment of injured athletes played an increasing role at the end of last century. Operative treatment of injured athletes and earlier rehabilitation has changed therapeutic standards of orthopedic treatment. During critical discussion of the historical development of the treatment of ruptured anterior cruciate ligaments and meniscal tears, it becomes evident that treatment methods once rejected may now prove to be useful and correct.