Search

This study evaluated the prevalence of temporomandibular disorders (TMDs) in ballet dancers and explored their association with levels of anxiety. Participants were 51 male and female ballet dancers with a mean age of 31.5 ± 12.6 years. The diagnosis of TMDs was made in accordance with Research Diagnostic Criteria for Temporomandibular Joint Disorders (RDC/TMD). All subjects completed the state part of an anxiety questionnaire (STAI). Data were gathered and analyzed using the R statistical software (version: 3.4.0.) with level of significance set at 5%. The prevalence of all TMDs in the sample was 78%; that is, of the 51 participants, 39 had at least one positive diagnosis. The two most prevalence diagnoses were disk displacement with reduction and arthralgia. Individuals with TMD had a mean anxiety score of 42.55 ± 9.92 on the STAI, whereas for those without TMD it was 44.27 ± 11.89, with no statistically significant difference (p = 0.53). It is concluded that the general prevalence of TMDs in ballet dancer is higher than in the population at large. Disk displacement with reduction and arthralgia are the most common TMDs, and the presence of TMDs does not seem to affect anxiety state levels in this population.

Background: Liver adenomatosis (LA) is a rare disease resulting from biallelic inactivation of the hepatocyte nuclear factor-1 alpha (HNF1A) gene, which induces the proliferation of adenoma cells in liver parenchyma. Liver adenomatosis has only been documented in case reports from patients carrying a HNF1A germline mutation. We have evaluated the frequency of LA among a large cohort of patients with HNF1A-maturity onset diabetes of the young (MODY), previously termed "MODY3," and herein describe its clinical, radiological, and pathological characteristics., Methods: In all, 137 HNF1A-MODY subjects from 74 families were screened by liver ultrasonography in 13 centers, and 15 additional cases of LA were later included in the series. Liver adenomatosis was confirmed by liver computed tomography, magnetic resonance imaging (MRI), and/or histopathology., Results: Among 137 carriers of an HNF1A mutation, 9 patients (6.5%) from seven families were diagnosed with LA. Diabetes mellitus was present in 87.5% of patients with LA. In 25% of patients, LA was diagnosed due to intra-abdominal or intratumoral bleeding. Liver biochemistry was near normal in all patients. Liver imaging showed adenomas of various sizes and numbers. On MRI, most nodules had the radiological characteristics of steatotic adenomas. Histopathological confirmation of LA was available in 13 cases, and these adenomas were mostly steatotic. Surgery was initially performed in 37.5% of patients, and liver disease progression was observed in 30%. No disease progression was observed in 14 pregnancies., Conclusions: The frequency of LA in a cohort of screened HNF1A-MODY patients and the high incidence of LA progression and/or hemorrhage warrants systematic screening for liver adenomatosis in HNF1A-MODY families., (© 2019 Ruijin Hospital, Shanghai Jiaotong University School of Medicine and John Wiley & Sons Australia, Ltd.)

Aims: Few reports have assessed the relationship between Type 1 diabetes and sleep disorders. The purposes of our study were to determine the prevalence of obstructive sleep apnoea in Type 1 diabetes and to compare the clinical profile of people with Type 1 diabetes with or without obstructive sleep apnoea., Methods: In this cross sectional study of 67 consecutive people with Type 1 diabetes, we performed polysomnography as part of their yearly check-ups., Results: In our cohort, with a mean BMI of 25.8 ± 4.7 kg/m(2), the prevalence of obstructive sleep apnoea [apnoea-hypopnoea index (AHI) > 10/h] was 46%. Severe obstructive sleep apnoea (AHI ≥ 30/h) was present in 19% of the patients. We found no significant differences in age, sex, body mass index, HbA1c or Epworth sleepiness scale score between people with or without obstructive sleep apnoea. People with obstructive sleep apnoea had a longer course of diabetes mellitus (P < 0.01) and a higher prevalence of retinopathy (P < 0.01), neuropathy (P = 0.05), cardiovascular disease (P < 0.01) and hypertension (P < 0.01). The occurrence of macrovascular complications was independently associated with the presence of OSA [odds ratio (OR) 8.28; 95% confidence interval (CI), 1.56-43.97; P = 0.013] and the duration of diabetes (OR 1.08; 95% CI, 1.02-1.15; P = 0.01). Moreover, retinopathy was independently associated with OSA (OR 4.54; 95% CI, 1.09-18.82; P = 0.04) and the duration of diabetes (OR 1.09; 95% CI, 1.04-1.15; P = 0.001)., Conclusions: The prevalence of obstructive sleep apnoea was high in people with Type 1 diabetes. Obstructive sleep apnoea was independently associated with macrovascular complications and retinopathy. Obesity and excessive daytime sleepiness were uncommon in this population., (© 2014 The Authors. Diabetic Medicine © 2014 Diabetes UK.)

Introduction: Neuroborreliosis can be a difficult diagnosis which requires epidemiologic, clinical and biologic arguments., Case Reports: We report two patients who presented with a recurrent laryngeal nerve palsy with positive Lyme serology and favorable outcome after antibiotic therapy. In one case, a lymphocytic meningitis with intrathecal production of specific antibodies was evidenced., Conclusion: Recurrent laryngeal nerve palsy is an uncommon manifestation of neuroborreliosis. Lyme serology is an important tool when neurologic disorder occurs because of an atypical course of Lyme disease., (2009 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.)

Variations in the mitochondrial helicase Twinkle (PEO1) gene are usually associated with autosomal dominant chronic progressive external ophthalmoplegia (PEO). We describe five patients from two unrelated Alsatian families with the new R374W variation in the Twinkle linker region who progressively developed an autosomal dominant multisystem disorder with PEO, hearing loss, myopathy, dysphagia, dysphonia, sensory neuropathy, and late-onset dementia resembling Alzheimer's disease. These observations demonstrate that Twinkle variations in the linker domain alter cerebral function and further implicate disrupted mitochondrial DNA integrity in the pathogenesis of dementia.

Introduction: The granulomatous mastitis is an inflammatory pseudotumor of the breast of which evolution benign but likely to generate important morphological after-effects among young women. This anatomoclinic entity of dubious etiology until these last years poses a problem of differential diagnosis with other etiologies of granulomatosis and especially with inflammatory carcinoma of the breast. The infectious theory is actually based on solid arguments and mainly explains the physiopathology of this affection., Interpretation: A 26 years old young woman developed an inflammatory tumor of the left breast of which the catch of load by surgery and an antibiotherapy had shown trailing local continuations and of the esthetic after-effects. One year later, a very inflammatory repetition on the level of the right breast was dealt with in a different way: by steroids and immunomodulating drugs associated with iterative punctures with the purulent collections, the objective being to be less dilapidating that left side. The initial answer was rather favorable and encouraging but the purulent reappearance bulky granulomas with sinus way made reconsider the therapeutic attitude and antibiotics were undertaken after description of a lipophilic corynebactery in the material of puncture (Corynebacteria kroppenstedtii). The effectiveness of the amoxicilline introduced on the data of the antibiogram was undeniable., Conclusion: This observation illustrates the therapeutic and diagnostic difficulties of an exceptional affection. Potentially accessible to antibiotics it generally requires a joint surgical assumption of responsibility, at the same time to ensure the histological diagnosis but also with a therapeutic aim. The interest of steroids and the immunomodulation by methotrexate is debatable, these treatments cannot however be conceived without antibiotherapy and sometimes surgery.

Tanaproget represents a potential first-in-class nonsteroidal PR agonist for contraception with improved safety and side effect profiles versus currently available steroidal oral contraceptives. Additional SAR, biological activity, and structural information from a tanaproget/hPR-LBD (hPR-LBD = human progesterone receptor ligand binding domain) cocrystal structure will also be presented.

Background: Maturity-onset diabetes of the young type 5 (MODY5), a type of dominantly inherited diabetes mellitus and nephropathy, has been associated with mutations of the hepatocyte nuclear factor-1beta (HNF-1beta) gene, mostly generating truncated protein. Various phenotypes, including urogenital malformations, are related to HNF-1beta mutations., Objective: To describe clinical and genetic findings in 13 patients with 8 novel HNF-1beta mutations., Design: Multicenter, descriptive study., Setting: 2 departments of diabetes, 1 department of internal medicine, and 1 department of nephrology., Participants: 8 probands with diabetes diagnosed before 40 years of age and nondiabetic kidney disease who were selected independent of their family history of diabetes, and 5 offspring., Measurements: Characteristics of diabetes, renal function and structure, genital tract abnormalities, pancreas structure, insulin secretion, exocrine pancreas function, and liver test results., Results: All mutations, including 5 missense changes, were found in the DNA-binding domain. Cosegregation of the mutation and MODY5 phenotype was observed in 4 families. Occurrence of a de novo mutation was demonstrated in 2 families. Diabetes was present in 10 of 13 mutation carriers. It was clinically overt in 5 participants and found by screening at age 19 to 38 years in 5 participants. Pancreas atrophy was observed in 5 of 6 probands, and pancreas exocrine insufficiency was observed in 6 of 7 probands. Renal involvement, consisting of structural changes and slowly progressive renal failure, was recognized in 9 patients at 18 to 41 years of age. Dysplastic kidneys were found by ultrasonography in 3 fetuses who subsequently showed transient neonatal renal failure. Genital tract abnormalities were present in 5 probands and liver enzyme levels were abnormal in 11 of 13 patients., Limitations: Since the study was small and not population-based, it could not estimate the prevalence of MODY5. Other phenotypes might be associated with HNF-1beta mutations., Conclusions: Maturity-onset diabetes of the young type 5 encompasses a wide clinical spectrum. Analysis for mutations of HNF-1beta is warranted, even without a family history of diabetes, in nonobese patients with diabetes and slowly progressive nondiabetic nephropathy, particularly when pancreatic atrophy or genital abnormalities are present.

Diabetes mellitus is, in most patients, a multi-metabolic condition disease under fixed standardized conditions. We develop here the advantages of a chronobiological approach, exploring nycthemeral variations in blood pressure, variations in insulin resistance, postprandial changes in blood glucose and postabsorptive variations in blood lipids. Such information can help improve our understanding of the disease, better identify risk and prognosis, and enlighten therapeutic options.

Introduction: Pancreatic somatostatinoma is a rare entity and its association with Von Recklinghausen's disease has only been described on two occasions. We report a new observation, with clinical and evolving status differing from those described in isolated cases of somatostatinoma., Observation: A 28 year-old man presenting with familial Von Recklinghausen's disease, had suffered for 10 years from paroxysmic abdominal pain. He was hospitalized for intense pain. Imaging revealed a retroperineal tumoral formation. Following duodenopancreatectomy, somatostatinoma was diagnosed. Diffuse metastatic miliary was revealed and multiple glandular metastases., Discussion: Other than the rarity of the morbid association (pancreatic somatostatinoma and Von Recklinghausen's disease) described, this case is particular in that the patient was very young, symptomatology was unapparent and tumoral evolution was minimal.

Disulfiram self poisoning is exceptional. The authors report on the case of such an intoxication related to the ingestion of a potentially lethal dose of this drug (30 g) and draw the attention on the following points: 1) The initial signs may be misleading because they include both psychiatrics and neurological signs such as phonation abnormalities, myoclonias and tetraparesia. 2) The evolution is unforseeable with the possible occurrence of severe psychological and motricity sequaelae, associated with bilateral and symetric injuries of the putamen, the palladium and the basal nuclei on CT-scan (or MRI). The pathophysiologic al mechanisms of theses signs are discussed, and the need for disulfiram in the care of alcoholic patients seeking for withdrawal as well.

Background: Stenosis of the inferior vena cava is a rare cause of Budd-Chiari's syndrome. We report on such a case related to a specific cause with a dramatic improvement after endovascular treatment., Case Report: A 53-year old woman was admitted to hospital because she demonstrated circulatory collapse, inferior limbs edema and post-prandial epigastralgia. These signs were related to the occurrence of a stenosis of the sus-hepatic segment of the inferior vena cava related to the presence of the distal part of a catheter. An angioplasty with the insertion of a stent was followed by a total recovery with a one-year survey., Conclusion: Angioplasty with the insertion of a stent should be considered in a Budd-Chiari syndrome related to the stenosis of the inferior vena cava. This option should be evaluated with reference to classic surgical techniques.

Campylobacter fetus is an uncommon cause of meningitis in the adult. We report a case observed in an 84-year-old man with alcoholic cirrhosis. The patient presented fever, jaundice and a state of mental confusion. Blood and cerebrospinal fluid cultures identified Campylobacter fetus sensitive to several antibiotics. Ciprofloxacine-ceftriaxone combination replaced the antibiotics prescribed empirically prior to identification and led to regression of the fever and normal mental status within 4 days. Spinal tap on day 7 showed 20 white cells, 85% lymphocytes and normal protein level. Unfortunately, the patient later developed edema and ascitis with major jaundice. Oligo-anuria could not be controlled and the patient died two weeks after admission. Campylobacter fetus meningitis is predominantly seen in men, mean age of onset 50 years. Clinical signs are not specific and diagnosis can only be obtained on the basis of cerebrospinal fluid results. Adapted antibiotics are required.

Amiodarone, an iodine-rich benzofuranic derivative, may often induce hyperthyroidism and hypothyroidism. We report two cases of complex dysthyroidism, in which hypothyroidism and then hyperthyroidism alternated: we recall five former observations found in the literature. Their nosologic position and pathophysiologic mechanisms are discussed.

The yellow nail syndrome is a clinical syndrome without specific biological parameters. It is characterized by the following threesome of symptoms: nail abnormalities, primary lymphedema, and pleuropulmonary manifestations. In most cases lymphography shows abnormalities of the lymphatic vessels and spirometry shows a restrictive defect and rarely obstructive disorders. Pathogenesis of this syndrome is still unknown. It is, however, remarkable that the yellow nail syndrome may occur in association with other diseases, the most frequent of which are cancer affections and immune disorders. We report two cases of the yellow nail syndrome which were associated with cancer (neoplasm of the larynx and breast).

The Lyme disease, which was first found in Lyme, USA, in 1975 is an infectious multi-system disorder whose agent, the Borrelia Burgdorferi, was identified in 1983. Various disease manifestations have been reported since them. We report a case of Lyme disease manifestation in the muscle revealed by serious amyotrophy in the scapular muscles, in the neck and in the trunk with scapula alata accompanied by noctural lumbago which is resistant to non steroïd anti-inflammatory drugs. Electromyography showed patterns of the myogenic type in the serrate anterior and infraspinous muscles on both sides and patterns of the neurogenic peripheral type in the lower extremities. The histological, immunohistochemical and electron-microscopal studies of the muscle biopsy have been without any pathological result. Creatine kinase and aldolase proved normal. Serological antibodies were not significantly increased. A positive diagnosis was obtained by lumbar puncture which showed lymphocytic meningitis, by demonstrating specific antibodies in the cerebrospinal fluid and by Western Blot antibodies analysis. Efficacy of the antibiotic therapy has resulted in a rapid regression of the symptoms, which is a further confirmation of the previous diagnosis.

Pulse-chase experiments utilizing intact Tetrahymena revealed that at least six proteins (molecular weights, 61,000, 56,000, 51,000, 48,000, 42,000, and 38,000) were unstable and underwent proteolytic cleavage during the first 20 min of the chase period. At least 9 product polypeptides (molecular weights, 45,000, 41,000, 25,000, 21,000, 20,000, 18,000, 17,000, 16,000, and 15,000) appeared during the chase. The proposal that the product polypeptides were actually mucocyst constituents was supported by a variety of observations. First, treatment of whole cells in a complete media with dibucaine caused precursor cleavage and product accumulation with kinetics that were consistent with previous morphologic observations on mucocyst formation. Second, the product polypeptides were enriched in a cell fraction containing just cortical components and amorphous material consistent with aggregated mucus. Third, the labeled product polypeptides in the cortex comigrated with partially purified labeled mucus obtained by dibucaine treatment of whole cells. Fourth, one-dimensional peptide mapping of the 45-kilodalton product confirmed that the post-translationally derived product in whole cell pulse-chase experiments was similar to the purified products in the cortex fraction and in dibucaine-released mucus. Two-dimensional peptide mapping of the 125I-labeled tryptic peptides of three pairs of products in the cortex and mucus further suggested a strong homology. The cleavage of mucocyst precursors was blocked by agents which deplete ATP levels and by N-tosyl-L-phenylalanyl chloromethyl ketone. Preliminary structural relationships were established between some of the precursors and products by one-dimensional peptide mapping. Models for the biogenesis of mucocysts are discussed, and it is proposed that the additional sequence information present in the precursors may be required for the intracellular transport of these proteins or their insertion and assembly within the mucocyst.

A homologous in vitro method was developed from Tetrahymena for ribosomal A-site binding of aminoacyl-tRNA to poly(uridylic acid)-programmed ribosomes with very low error frequency. The reaction mixture pH was the crucial factor in the stable A-site association of aminoacyl-tRNA with high fidelity. At a pH greater than 7.1, endogenous activity translocated A-site-bound aminoacyl-tRNA to the P site. If translocation was allowed to occur, a near-cognate amino-acyl-tRNA, Leu-tRNA, could stably bind to the ribosome by translocation to the ribosomal P site. Near-cognate aminoacyl-tRNA did not stably bind to either site when translocation was blocked. Misreading antibiotics stimulated the stable association of near-cognate aminoacyl-tRNA to the ribosomal A site, thereby increasing the error frequency by several orders of magnitude. Ribosome binding of total aminoacyl-tRNA near equilibrium was not inhibited by misreading antibiotics; however, initial rate kinetics of the binding reaction were dramatically altered such that a 6-fold rate increase was observed with paromomycin or hygromycin B. The rate increase was evident with both cognate and near-cognate aminoacyl-tRNAs. Several antibiotics were tested for misreading potency by the ribosome binding method. We found gentamicin G418 greater than paromomycin greater than neomycin greater than hygromycin B greater than streptomycin in the potentiation of misreading. Tetracycline group antibiotics effectively inhibited A-site aminoacyl-tRNA binding without promoting misreading.

The five suppressors SUP35, SUP43, SUP44, SUP45 and SUP46, each mapping at a different chromosomal locus in the yeast Saccharomyces cerevisiae, suppress a wide range of mutations, including representatives of all three types of nonsense mutations, UAA, UAG and UGA. We have demonstrated that ribosomes from the four suppressors SUP35, SUP44, SUP45 and SUP46 translate polyuridylate templates in vitro with higher errors than ribosomes from the normal stain, and that this misreading is substantially enhanced by the antibiotic paromomycin. Furthermore, ribosomal subunit mixing experiments established that the 40 S ribosomal subunit, and this subunit only, is responsible for the higher levels of misreading. Thus, the gene products of SUP35, SUP44, SUP45 and SUP46 are components of the 40 S subunit or are enzymes that modify the subunit. In addition, a protein from the 40 S subunit of the SUP35 suppressor has an altered electrophoretic mobility; this protein is distinct from the altered protein previously uncovered in the 40 S subunit of the SUP46 suppressor. In contrast to the ribosomes from the four suppressors SUP35, SUP44, SUP45 and SUP46, the ribosomes from the SUP43 suppressor do not significantly misread polyuridylate templates in vitro, suggesting that this locus may not encode a ribosomal component or that the misreading is highly specific.

When uninfected or adenovirus 5-infected KB cells are exposed to hypertonic medium, the incorporation of radioactive amino acids into protein decreases in both, but more severely in the uninfected cells. Although the effect of hypertonic medium on the synthesis of specific polypeptides varies, the translation of viral polypeptides as a class is less inhibited. The same patterns of proteins are synthesized regardless of the solute used in the hypertonic medium. The mechanism by which hypertonic conditions exert their effect on whole cells was investigated in K cell-free systems. It was possible to simulate the differential patterns of protein synthesis obtained in whole cells in hypertonic medium by increasing ion concentrations in cell-free extracts which are capable of initiating polypeptide chains on exogenous templates. However, in cell lysates which only elongate proteins, the same patterns were not obtained. Certain host and viral polypeptides displayed striking responses to increased ionic conditions in whole cells and cell-free systems. The synthesis of a host 44K protein, actin, appeared to be most sensitive; lower-molecular-weight proteins were fairly resistant. Among the viral proteins, the synthesis of 100K was inhibited, but most notable was the marked resistance of the synthesis of polypeptide IX. Possible mechanisms for differential synthesis and their significance are considered.

Previous work from our laboratory has demonstrated that a subclass of the aminoglycoside antibiotics, those containing the drug fragment paromamine, stimulates mistranslation in cell-free protein-synthesizing systems derived from eucaryotic cells. We report here experiments which show that the ciliate Tetrahymena thermophila (formerly T. pyriformis, syngen 1) is sensitive to the paromamine-containing aminoglycoside antibiotics. The drugs are active with respect to growth inhibition, inhibition of protein synthesis in the whole organism, inhibition of protein synthesis in vitro and the stimulation of mistranslation in cell-free protein-synthesizing systems. Because of their misreading properties, these drugs may be useful in isolating and propagating strains carrying mutations which can be translationally suppressed (that is, missense and nonsense mutations).

Tetrahymena thermophila is a eucaryotic organism that is highly susceptible to growth inhibition by aminoglycoside antibiotics. Concentrations of paromomycin, gentamicin G418, and hygromycin B at 22, 10, and 17 microM, respectively, inhibited growth by 50%. A combination of in vitro and in vivo methods was used to determine the mechanisms of action of these aminoglycoside antibiotics on protein synthesis in T. thermophila. Analysis of polysome profiles from paromomycin- and gentamicin G418-treated cells showed clear, progressive depletions of polysomes concomitant with an inhibition of in vivo [14C] lysine incorporation. In vitro, paromomycin and gentamicin G418, which are disubstituted 2-deoxystreptamine-containing molecules, were not very effective inhibitors of either the translocation of peptidyl-tRNA or the elongation of nascent polypeptide chains on polysomes. In contrast, we found that the translocation of phe-tRNA on polyuridylate programmed ribosomes was susceptible to inhibition by paromomycin. We conclude that the primary inhibitory action of paromomycin and gentamicin G418 was at (i) an early stage of elongation after initiation, (ii) the initiation stage of translation, or (iii) a stage of translation before initiation. Hygromycin B, which is a monosubstituted 2-deoxystreptamine-containing aminoglycoside, potently inhibited the elongation of nascent chains during the translation of polysomes. In addition, the in vitro translation of polysomes from two hygromycin B-resistant mutants was resistant to the inhibition of elongation caused by hygromycin B.

Reaction mixtures containing cytoplasmic extracts and ribosomal fractions prepared from KB cells infected with type 5 adenovirus were able to carry out incorporation of amino acids into protein. The in vitro product included proteins which reacted specifically with antisera to adenovirus capsid proteins; in control experiments with extracts from uninfected cells, no reactions with the antisera were found. The viral proteins were synthesized in vitro on small polyribosomes, were released from them, and significant numbers of the free polypeptides were assembled in vitro into multimeric adenovirus capsid structures.

The average interval between attachment of a 30S ribosomal subunit to bacteriophage T4 lysozyme mRNA and the completion of synthesis of lysozyme protein has been measured in vitro. The measured completion times yield rates of polypeptide chain propagation of 1.6 and 3.0 amino acids per second at 25 degrees C and 31 degrees C, respectively.