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BACKGROUND: To date, over 400 syndromes with hearing impairment have been identified which altogether constitute almost 30% of hereditary hearing loss (HL) cases around the globe. Manifested as complete or partial labyrinthine aplasia (severe malformations of the inner ear structure), type I microtia (smaller outer ear with shortened auricles), and microdontia (small and widely spaced teeth), labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome (OMIM 610706) is an extremely rare autosomal recessive condition caused by bi-allelic mutations in the FGF3 gene. METHODS: Using the whole-exome sequencing (WES) data of the proband, we analyzed a consanguineous Iranian family with three affected members presenting with congenital bilateral HL, type I microtia, and microdontia. RESULTS: We discovered the homozygous deletion c.45delC in the first exon of the FGF3 gene, overlapping a 38.72 Mb homozygosity region in chromosome 11. Further investigations using Sanger sequencing revealed that this variant co-segregated with the phenotype observed in the family. CONCLUSION: Here, we report the first identified case of LAMM syndrome in Iran, and by identifying a frameshift variant in the first exon of the FGF3 gene, our result will help better clarify the phenotype-genotype relation of LAMM syndrome.

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Complete labyrinthine aplasia (CLA) is a rare inner ear anomaly. The only identified genetic cause of CLA with severe sensorineural hearing loss is labyrinthine aplasia, microtia, and microdontia (LAMM) syndrome. Here we reported a child who presented with syndromic hearing loss and was diagnosed with LAMM syndrome. Genetic evaluation provided the family with confirmation of the diagnosis, provision of the prognosis, genetic counselling, and prenatal diagnosis. This report highlighted that CLA should be recognized as a unique sign to diagnose LAMM syndrome, to analyze FGF3 gene mutation, and also demonstrated the utility of genetic testing in patients with suspected LAMM syndrome to provide exact diagnosis and further management.

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Labyrinthine aplasia, microtia, and microdontia (LAMM) is an autosomal recessive condition causing profound congenital deafness, complete absence of inner ear structures (usually Michel's aplasia), microtia (usually type 1) and microdontia. To date, several families have been described with this condition and a number of mutations has been reported. We report on eight further cases of LAMM syndrome including three novel mutations, c. 173T>C p.L58P; c. 284G>A p.(Arg95Gln) and c.325_327delinsA p.(Glu109Thrfs*18). Congenital deafness was the primary presenting feature in all affected individuals and consanguinity in all but two families. We compare the features in our patients to those previously reported in LAMM, and describe a milder, asymmetrical phenotype associated with FGF3 mutations.

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Here we give an overview of the history of sedimentation velocity analysis focusing on seminal and fundamental contributions that derived from early ultracentrifugation studies. We introduce the concepts of nonequilibrium thermodynamics and outline the derivation of the Svedberg and the Lamm equations and the requirements for including both hydrodynamic and thermodynamic nonideality. We introduce the phenomenological equations for coupled flows as developed from the principles of nonequilibrium or irreversible thermodynamics and derive a form of the Lamm equation that incorporates cross-diffusion coefficients and coupled gradient terms. We give an historical overview of solutions to the Lamm equation including Fujita-MacCosham solutions and Claverie finite-element numerical solutions and discuss the software that have implemented these solutions. We discuss the three major optical systems (absorbance, interference, and fluorescence) and recently developed multiwavelength systems. We also suggest a number of experimental practices and guidelines for optimizing the determination of s and D and discuss the appropriate centerpiece components and their utility. This chapter complements other recent reviews submitted by the authors (Correia, Lyons, Sherwood, & Stafford, 2015; Stafford, 2015) and should be considered an effort to revive the importance of irreversible thermodynamics in the understanding and analysis of sedimentation velocity ultracentrifugation data.

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Intrinsically disordered proteins have traditionally been largely neglected by structural biologists because a lack of rigid structure precludes their study by X-ray crystallography. Structural information must therefore be inferred from physicochemical studies of their solution behavior. Analytical ultracentrifugation yields important information about the gross conformation of an intrinsically disordered protein. Sedimentation velocity studies provide estimates of the weight-average sedimentation and diffusion coefficients of a given macromolecular state of the protein.

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This paper aims to provide an overview of the accepted techniques of pain relief and castration and guidelines of how to best perform these painful interventions in an animal-friendly way under Swiss conditions. Calves should be castrated at the age of 14 days or less, at least 10 minutes after local anesthesia with lidocaine, applying a single rubber ring. Concurrently, a NSAID should be administered intravenously (ketoprofen, 3 mg/kg of bodyweight) and Tetanus-serum subcutaneously (off label use). If possible, ketoprofen(4.5 mg/kg BW) should be orally administered for 3 - 5 days postoperatively. At 10 days after applying the rubber ring, the dried-off scrotum including the rubber ring should be removed with a clean knife or a scalpel. Local anesthesia is not necessary for this procedure. Ram lambs should be castrated at the age of 14 days or less, at least 10 minutes after local anesthesia with lidocaine, applying a rubber ring. The toxic dose of 4 mg lidocaine/kg BW (corresponds to 1 ml lidocaine 2 % per lamb of 5 kg BW) should not be exceeded. Concurrently, a NSAID (off label use) and Tetanus-serum should be administered systemically. Immunization against GnRH represents an animal-friendly and economically feasible alternative to rubber ring castration. With two immunizations at an interval of 3 - 4 weeks testicular development can be inhibited for at least 3 months and the onset of puberty clearly delayed. However, a specific vaccine for use in ruminants is currently registered neither in Switzerland nor in Europe.

Le présent travail donne un aperçu des méthodes praticables pour l'anesthésie et la castration ainsi que des recommandations pour une réalisation de cette intervention dans le respect du bien-être animal dans les conditions suisses. Les veaux devraient être castrés dans les 14 premiers jours de vie au moyen d'un élastique posé au plus tôt 10 minutes après la réalisation de l'anesthésie locale avec de la lidocaïne. Il convient d'administrer simultanément un AINS (kétoprofène, 3 mg/kg PC) en i/v lente ainsi qu'un sérum antitétanique (reconversion). Dans la mesure du possible, il convient d'administrer oralement du kétoprofène (4.5 mg/kg PC) par voie orale pendant les 3 à 5 jours suivants. Le scrotum desséché y compris l'élastique doit être supprimé sans anesthésie au moyen d'un couteau propre ou d'un scalpel stérile 10 jours après la pose de l'élastique. Les agneaux doivent être castrés dans leurs 14 premiers jours de vie, comme les veaux avec un élastique posé au minimum 10 minutes après la réalisation d'une anesthésie à la lidocaïne. On prendra garde à ne pas dépasser la dose maximale de 4 mg/kg de lidocaïne (ce qui représente 1 ml de lidocaïne 2 % pour un agneau de 5 kg). Simultanément à l'anesthésie, on appliquera un AINS (reconversion) et un sérum antitétanique. La vaccination anti-GnRH représente une alternative pratique et économique ménageant les animaux pour la castration des veaux et des agneaux mâles. Une double vaccination à 3 à 4 semaines d'intervalle permet de bloquer le développement testiculaire pendant au moins 3 mois et de retarder ainsi la maturité sexuelle. Toutefois il n'existe actuellement pas en Suisse ni en Europe de vaccin spécifique enregistré pour l'application chez les ruminants.

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OBJECTIVE: To evaluate the effectiveness and feasibility of the laparoscopy assisted mini-lap myomectomy (LAMM) as an alternative to laparotomy for patients with multiple or huge myoma unsuitable for laparoscopic myomectomy. METHODS: Uncontrolled retrospective study was done on the forty-six women with myoma of 16 or more gestational sized who were undertaken laparoscopy assisted mini-lap myomectomy. The operative procedures consisted of: 1) examination of pelvic cavity, 2) infiltration of diluted vasopressin, 3) enucleation of myoma, 4) suture of uterus, and 5) removal of myoma. The examination of pelvic cavity was always done using laparoscopy. Either the laparoscopic or mini-lap method for each of the remaining steps was determined depending on the characteristics of the cases. Before operation, patients with severe anemia were corrected by the administration of oral or parenteral iron. RESULTS: The mean age of the patients was 33.3 +/- 4.7 years, their mean gravidities and parities were 0.74 and 0.24, respectively. Of 46 patients, 28 women were married and 20 desired childbearing. The mean (+/-SD) myoma weight was 501 +/- 353 (range 130-1600) gm. The mean operation time was 87.0 +/- 31.3 minutes and blood loss was 208 +/- 239 mL. The mean incision length of mini- lap was 4.6 +/- 1.1 (range 2.5-6) cm. Postoperatively, 1 case of wound abscess occurred. Postoperative mild anemia was correctable with oral iron. Most patients were resumed normal activity within 3 weeks. The mean period of follow-up was 20 (range 6-58) months. Of 20 who desired childbearing, 15 women were follow-up and 9 women conceived. In 6 patients who underwent cesarean section, no significant adhesion or defect was found in the uterus. CONCLUSION: These results suggest that LAMM is feasible and safe minimal invasive method that could replace routine laparotomy in patients with huge myoma.

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An exact solution in the Faxén approximation is given for the Lamm equation in which the sedimentation coefficient is related to concentration as s = s 0(1-kc). It is shown that the solution in this case can be expressed in terms of the solution to the linear case (k =0) with a modified argument. The boundary sharpening phenomenon expresses itself very clearly in the solution presented here.