3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.

3-M syndrome is a rare autosomal recessive disorder that causes short stature, unusual facial features and skeletal abnormalities. Mutations in the CUL7, OBSL1 and CCDC8 genes could be responsible for 3-M syndrome.Here we describe the growth and evolution of dismorphic features of an Italian boy with 3-M syndrome and growth hormone deficiency (GHD) from birth until adulthood. He was born full term with a very low birth weight (2400 g=-3.36 standard deviation score, SDS) and length (40.0 cm =-6.53 SDS). At birth he presented with a broad, fleshy nose with anteverted nostrils, thick and patulous lips, a square chin, curvilinear shaped eyebrows without synophrys, short thorax and long slender bones. Then, during childhood tall vertebral bodies, hip dislocation, transverse chest groove, winged scapulae and hyperextensible joints became more evident and the diagnosis of 3-M syndrome was made; this was also confirmed by the finding of a homozygous deletion in exon 18 of the CUL7 gene, which has not been previously described.The patient also exhibited severe GHD (GH <5 ng/ml) and from the age of 18 months was treated with rhGH. Notwithstanding the early start of therapy and good compliance, his growth rate was always very low, except for the first two years of treatment and he achieved a final height of 132 cm (-6.42 SDS).

Rhabdias paraensis sp. nov.: a parasite of the lungs of Rhinella marina (Amphibia: Bufonidae) from Brazilian Amazonia

The nematode parasites of Rhinella marina include species of the genus Rhabdias (Rhabdiasidae: Rhabditoidea). The present study describes Rhabdias paraensis sp. nov., which parasitizes the lungs of R. marina in Brazilian Amazonia. Of the more than 70 known species of this genus, 18 are parasites of bufonids, of which, eight are Neotropical. The new species described here is similar to Rhabdias alabialis in the absence of lips is different by the presence of conspicuous cephalic papillae. We describe details of the four rows of pores, which are distributed equally along the whole of the length of the body and connected with hypodermal cells, using histology and scanning electron microscopy. Other histological aspects of the internal structure of this nematode are also described.

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

Interstitial deletions of 7q11.23 cause Williams-Beuren syndrome, one of the best characterized microdeletion syndromes. The clinical phenotype associated with the reciprocal duplication however is not well defined, though speech delay is often mentioned. We present 14 new 7q11.23 patients with the reciprocal duplication of the Williams-Beuren syndrome critical region, nine familial and five de novo. These were identified by either array-based MLPA or by array-CGH/oligonucleotide analysis in a series of patients with idiopathic mental retardation with an estimated population frequency of 1:13,000-1:20,000. Variable speech delay is a constant finding in our patient group, confirming previous reports. Cognitive abilities range from normal to moderate mental retardation. The association with autism is present in five patients and in one father who also carries the duplication. There is an increased incidence of hypotonia and congenital anomalies: heart defects (PDA), diaphragmatic hernia, cryptorchidism and non-specific brain abnormalities on MRI. Specific dysmorphic features were noted in our patients, including a short philtrum, thin lips and straight eyebrows. Our patient collection demonstrates that the 7q11.23 microduplication not only causes language delay, but is also associated with congenital anomalies and a recognizable face.

Lepromatous leprosy: a review and case report

Leprosy is a contagious and chronic systemic granulomatous disease caused by Mycobacterium leprae (Hansen"s bacillus). It is transmitted from person to person and has a long incubation period (between two and six years). The disease presents polar clinical forms (the"multibacillary" lepromatous leprosy and the"paucibacillary" tuberculoid leprosy), as well as other intermediate forms with hybrid characteristics. Oral manifestations usually appear in lepromatous leprosy and occur in 20-60% of cases. They may take the form of multiple nodules (lepromas) that progress to necrosis and ulceration. The ulcers are slow to heal, and produce atrophic scarring or even tissue destruction. The lesions are usually located on the hard and soft palate, in the uvula, on the underside of the tongue, and on the lips and gums. There may also be destruction of the anterior maxilla and loss of teeth. The diagnosis, based on clinical suspicion, is confirmed through bacteriological and histopathological analyses, as well as by means of the lepromin test (intradermal reaction that is usually negative in lepromatous leprosy form and positive in the tuberculoid form). The differential diagnosis includes systemic lupus erythematosus, sarcoidosis, cutaneous leishmaniasis and other skin diseases, tertiary syphilis, lymphomas, systemic mycosis, traumatic lesions and malignant neoplasias, among other disorders. Treatment is difficult as it must be continued for long periods, requires several drugs with adverse effects and proves very expensive, particularly for less developed countries. The most commonly used drugs are dapsone, rifampicin and clofazimine. Quinolones, such as ofloxacin and pefloxacin, as well as some macrolides, such as clarithromycin and minocyclin, are also effective. The present case report describes a patient with lepromatous leprosy acquired within a contagious family setting during childhood and adolescence

Pinnan ominaisuuksien karakterisointi kiiltomittalaitteella ja kiiltomittalaitteen soveltuvuus tuotannon laadunvarmistuksessa

Alahuulten, kärkilistojen, turboputkien ja telapinnoitteiden pinnankarheutta mitataan Rautpohjan tehtaalla nykyään pääosin koskettavalla pinnankarheusprofilometrilla. Profilometrin käyttö on hankalaa ja epäluotettavaa tai käytössä on muita ongelmia. Paperin kuituorientaation mittaamiseen käytetään nykyisin mm. TSO-menetelmää tai repäisymenetelmää. Tämän diplomityön tarkoituksena oli kartoittaa diffraktiiviseen optiseen elementtiin perustuvan kiiltomittalaiteprototyypin mahdollisuuksia karakteroida pinnan ominaisuuksia ja tutkia kiiltomittalaitteen soveltuvuutta tuotannon laadunvarmistuksessa. Alahuuli-, kärkilista-, turboputki-, telapinnoite- ja paperinäytteistä valmistettiinnäytesarjoja, jotka mitattiin nykymenetelmin ja kiiltomittalaitteella. Tulostenkorreloituvuutta tutkittiin ja taloudellista merkitystä arvioitiin investointilaskelmin. Paperin kuituorientaation, paperin pinnan kuituorientaation ja telapinnoitteiden mittaaminen kiiltomittalaitteella osoittautui taloudellisesti erittäin merkittäväksi. Ennen mahdollista kiiltomittalaitteen käyttöönottoa prototyyppiä on kehitettävä, kiillon korreloituvuutta tulee tutkia edelleen ja aiheesta on tehtävä lisätutkimuksia.

Analyse de l'angle naso-labial

Nous avons analysé l'angle naso-labial et les différents facteurs qui l'influencent, chez des patients de 9 ans ± 1,4. Nous avons obten u une valeur moyenne de 115,30 ± 10,8. L'inclinaison et la position de l'incisive supérieure et l'angle ANB constituent les facteurs osseux et dentaires qui ont la plus grande répercussion sur l'angle naso-labial. Le sexe et l'age n'ont pas eu d'influences statistiquement significatives sur les résultats. L'incompétence labiale s'est avérée etre la cause d'un angle plus aigu

Analyse de l'angle naso-labial

Nous avons analysé l'angle naso-labial et les différents facteurs qui l'influencent, chez des patients de 9 ans ± 1,4. Nous avons obten u une valeur moyenne de 115,30 ± 10,8. L'inclinaison et la position de l'incisive supérieure et l'angle ANB constituent les facteurs osseux et dentaires qui ont la plus grande répercussion sur l'angle naso-labial. Le sexe et l'age n'ont pas eu d'influences statistiquement significatives sur les résultats. L'incompétence labiale s'est avérée etre la cause d'un angle plus aigu

An Optimum Coating Colour Formula for CSWO-printing

Pigmenttipäällystyksen tarkoituksena on parantaa painopapereiden pintaominaisuuksia. Tämän työn tarkoituksena oli löytää sopiva päällystyspasta päällystetylle coldset-paperille. Kirjallisuusosassa on käsitelty coldset-painatusta ja sen ongelmia. Päällystysmenetelmän perusteita, pastan ominaisuuksia ja niiden vaikutusta päällystystulokseen on myös käsitelty. Lisäksi on esitelty joitakin päällystetyn paperin pinnantutkimusmenetelmiä. Kokeellisessa osassa on tutkittu erilaisten pastakoostumusten ja päällystemäärien sekä kalanteroinnin vaikutusta paperin painettavuuteen. Paperit on päällystetty Helicoaterilla ja joitakin pastoja on testattu myös pilot-mittakaavaisessa päällystyksessä. Selitystä paperin käyttäytymiseen painatuksessa on etsitty päällystetyn paperin pintarakenteesta. Paras painettavuus saavutetaan päällysteellä, jossa pigmenttinä on vain karbonaatti. Painojälkeä voidaan parantaa käyttämällä kalsinoitua kaoliinia yhdessä karbonaatin kanssa, mutta tämän päällysteen pintalujuus ei ole riittävä CSWO-painatukseen. Tärkkipigmentti parantaa veden ja painovärin absorptiota ja siten tekee painetun tuotteen kuivemmaksi ja miellyttävämmän tuntuiseksi, mutta aiheuttaa smearingia. Tämä johtuu liian nopeasta musteen asettuvuudesta. "Pehmeä" SB-lateksi soveltuu paremmin offset-painatukseen kuin "kova" lateksi, joka sisältää myös PVAc:ta. "Pehmeällä" lateksilla saadaan parempi pintalujuus ja painojälki kuin "kovalla" lateksilla. Paperin pölyävyyttä painatuksessa voidaan vähentää nostamalla päällystemäärää ja laskemalla pastan kuiva-ainepitoisuutta. Kalanteroinnilla ei pintalujuutta tai painojälkeä voida parantaa. Selitys tutkimuksessa käsiteltyjen papereiden painojäljelle ja painettavuudelle löydetään tutkimalla päällysteen pintarakennetta. Painojälkeen vaikuttaa eniten päällysteen peittoaste. Huonoa peittävyyttä voidaan parantaa nostamalla päällystemäärää. Pölyäminen painatuksessa johtuu pigmenteistä, jotka eivät ole sidottuja paperin pintaan. Tämä taas johtuu pastan huonosta vesiretentiosta. Hyödyllisintä tietoa näiden papereiden pintarakenteesta saadaan tutkimalla pintaa pyyhkäisyelektonimikroskoopilla (SEM), atomivoimamikroskoopilla (AFM) ja laserindusoidulla plasmaspektrometrilla (LIPS). LIPSin etuna on se, että päällystemääräjaukauma voidaan määrittää sekä x-y- että z-suunnassa samanaikaisesti samasta kohdasta. LIPSissä myös näytteen preparointitarve on hyvin vähäinen.

Measurement Problems and Problem-Solving in Kraft Pulping

Tämän työn tarkoituksena on koota yhteen selluprosessin mittausongelmat ja mahdolliset mittaustekniikat ongelmien ratkaisemiseksi. Pääpaino on online-mittaustekniikoissa. Työ koostuu kolmesta osasta. Ensimmäinen osa on kirjallisuustyö, jossa esitellään nykyaikaisen selluprosessin perusmittaukset ja säätötarpeet. Mukana on koko kuitulinja puunkäsittelystä valkaisuun ja kemikaalikierto: haihduttamo, soodakattila, kaustistamo ja meesauuni. Toisessa osassa mittausongelmat ja mahdolliset mittaustekniikat on koottu yhteen ”tiekartaksi”. Tiedot on koottu vierailemalla kolmella suomalaisella sellutehtaalla ja haastattelemalla laitetekniikka- ja mittaustekniikka-asiantuntijoita. Prosessikemian paremmalle ymmärtämiselle näyttää haastattelun perusteella olevan tarvetta, minkä vuoksi konsentraatiomittaukset on valittu jatkotutkimuskohteeksi. Viimeisessä osassa esitellään mahdollisia mittaustekniikoita konsentraatiomittausten ratkaisemiseksi. Valitut tekniikat ovat lähi-infrapunatekniikka (NIR), fourier-muunnosinfrapunatekniikka (FTIR), online-kapillaarielektroforeesi (CE) ja laserindusoitu plasmaemissiospektroskopia (LIPS). Kaikkia tekniikoita voi käyttää online-kytkettyinä prosessikehitystyökaluina. Kehityskustannukset on arvioitu säätöön kytketylle online-laitteelle. Kehityskustannukset vaihtelevat nollasta miestyövuodesta FTIR-tekniikalle viiteen miestyövuoteen CE-laitteelle; kehityskustannukset riippuvat tekniikan kehitysasteesta ja valmiusasteesta tietyn ongelman ratkaisuun. Työn viimeisessä osassa arvioidaan myös yhden mittausongelman – pesuhäviömittauksen – ratkaisemisen teknis-taloudellista kannattavuutta. Ligniinipitoisuus kuvaisi nykyisiä mittauksia paremmin todellista pesuhäviötä. Nykyään mitataan joko natrium- tai COD-pesuhäviötä. Ligniinipitoisuutta voidaan mitata UV-absorptiotekniikalla. Myös CE-laitetta voitaisiin käyttää pesuhäviön mittauksessa ainakin prosessikehitysvaiheessa. Taloudellinen tarkastelu pohjautuu moniin yksinkertaistuksiin ja se ei sovellu suoraan investointipäätösten tueksi. Parempi mittaus- ja säätöjärjestelmä voisi vakauttaa pesemön ajoa. Investointi ajoa vakauttavaan järjestelmään on kannattavaa, jos todellinen ajotilanne on tarpeeksi kaukana kustannusminimistä tai jos pesurin ajo heilahtelee eli pesuhäviön keskihajonta on suuri. 50 000 € maksavalle mittaus- ja säätöjärjestelmälle saadaan alle 0,5 vuoden takaisinmaksuaika epävakaassa ajossa, jos COD-pesuhäviön vaihteluväli on 5,2 – 11,6 kg/odt asetusarvon ollessa 8,4 kg/odt. Laimennuskerroin vaihtelee tällöin välillä 1,7 – 3,6 m3/odt asetusarvon ollessa 2,5 m3/odt.

Lepromatous leprosy: a review and case report

Leprosy is a contagious and chronic systemic granulomatous disease caused by Mycobacterium leprae (Hansen"s bacillus). It is transmitted from person to person and has a long incubation period (between two and six years). The disease presents polar clinical forms (the"multibacillary" lepromatous leprosy and the"paucibacillary" tuberculoid leprosy), as well as other intermediate forms with hybrid characteristics. Oral manifestations usually appear in lepromatous leprosy and occur in 20-60% of cases. They may take the form of multiple nodules (lepromas) that progress to necrosis and ulceration. The ulcers are slow to heal, and produce atrophic scarring or even tissue destruction. The lesions are usually located on the hard and soft palate, in the uvula, on the underside of the tongue, and on the lips and gums. There may also be destruction of the anterior maxilla and loss of teeth. The diagnosis, based on clinical suspicion, is confirmed through bacteriological and histopathological analyses, as well as by means of the lepromin test (intradermal reaction that is usually negative in lepromatous leprosy form and positive in the tuberculoid form). The differential diagnosis includes systemic lupus erythematosus, sarcoidosis, cutaneous leishmaniasis and other skin diseases, tertiary syphilis, lymphomas, systemic mycosis, traumatic lesions and malignant neoplasias, among other disorders. Treatment is difficult as it must be continued for long periods, requires several drugs with adverse effects and proves very expensive, particularly for less developed countries. The most commonly used drugs are dapsone, rifampicin and clofazimine. Quinolones, such as ofloxacin and pefloxacin, as well as some macrolides, such as clarithromycin and minocyclin, are also effective. The present case report describes a patient with lepromatous leprosy acquired within a contagious family setting during childhood and adolescence

Tratamiento del carcinoma de labio mediante braquiterapia de alta tasa de dosis

Dado los diferentes métodos terapéuticos para el cáncer de labio, el objetivo del presente estudio es valorar los resultados obtenidos en un grupo prospectivo de 28 pacientes afectos de carcinoma de labio tratados mediante moldes externos de braquiterapia de alta tasa de dosis. Tanto por la remisión completa que ocurrió en todos los casos, la buena tolerancia a la terapia, la ausencia de complicaciones y de recurrencias, la facilidad de empleo de los moldes, la precisión en el posicionamiento de la fuente en la repetición diaria del tratamiento y la seguridad que ofrece en cuanto a radioprotección, concluímos que esta terapéutica probablemente se convierta en la de uso habitual en los próximos años.

Canine papillomatosis: a retrospective study of 24 cases (2001-2011) and immunohistochemical characterization

A retrospective study of 24 cases of papillomas in dogs was performed from January 2001 to March 2011. Additionally, immunohistochemistry (IHC) was used to characterize and evaluate the samples. We found that disease was observed more in mixed breed dogs, ages ranging from 6 months to 10 years (mean 3.1 years), and there was no gender predilection. The main lesion sites were the skin (75%), lips (16.7%), and eyelids (8.3%). Upon histological evaluation, we observed papillary exophytic proliferation of squamous epithelium and papillary endophytic proliferation (inverted) in 87.5% and 12.5% of cases, respectively. The tumors were characterized by spinous layer hyperplasia (87.5%) with koilocytes (70.8%) and intranuclear pale basophilic inclusions bodies (8.3%), prominent granular layer with large amounts of keratohyalin granules (95.8%), and hyperkeratosis in the stratum corneum (100%). Positive immunostaining for Papillomavirus was found in 83.3% of cases, which were distributed between the granular layer and the stratum corneum. These findings indicate the following: that papillomas in dogs are caused by Papillomavirus, the viral cytopathic effect induces epithelial lesions, viral particles are found inside the cell nuclei, and inclusions bodies are rare.

Estrus cycle monitoring of captive collared peccaries (Pecari tajacu) in semiarid conditions

Collared peccaries (Peccary tajacu) are among the most hunted species in Latin America due the appreciation of their pelt and meat. In order to optimize breeding management of captive born collared peccaries in semiarid conditions, the objective was to describe and correlate the changes in the ovarian ultrasonographic pattern, hormonal profile, vulvar appearance, and vaginal cytology during the estrus cycle in this species. During 45 days, females (n=4) were subjected each three days to blood collection destined to hormonal dosage by enzyme immunoassay (EIA). In the same occasions, evaluation of external genitalia, ovarian ultrasonography and vaginal cytology were conducted. Results are presented as means and standard deviations. According to hormonal dosage, six estrous cycles were identified as lasting 21.0 ± 5.7 days, being on average 6 days for the estrogenic phase and 15 days for the progesterone phase. Estrogen presented mean peak values of 55.6 ± 20.5 pg/mL. During the luteal phase, the high values for progesterone were 35.3 ± 4.4 ng/mL. The presence of vaginal mucus, a reddish vaginal mucosa and the separation of the vulvar lips were verified in all animals during the estrogenic peak. Through ultrasonography, ovarian follicles measuring 0.2±0.1 cm were visualized during the estrogen peak. Corpora lutea presented hyperechoic regions measuring 0.4±0.2 cm identified during luteal phase. No significant differences (P>0.05) between proportions of vaginal epithelial cells were identified when comparing estrogenic and progesterone phases. In conclusion, female collared peccaries, captive born in semiarid conditions, have an estral cycle that lasts 21.0±5.7 days, with estrous signs characterized by vulvar lips edema and hyperemic vaginal mucosa, coinciding with developed follicles and high estrogen levels.

A study of the facial aging - a multidisciplinary approach

This paper describes a mathematical and graphical model for face aging. It considers the possibility of predicting the aging process by offering an initial quantification of this process as it applies to the face. It is concerned with physical measurements and a general law of time dependence. After measuring and normalizing a photograph of a person, one could predict, with a known amount of error, the appearance of that person at a different age. The technique described has served its purpose successfully, with a representative amount of patient data behaving sufficiently near the general aging curve of each parameter. That model uses a warping technique to emulate the aging changes on the face of women. Frequently the warping methods are based on the interpolation between images or general mathematical functions to calculate the pixel attributes. The implemented process considers the age features of selected parts of a face such as the face outline and the shape of the lips. These age features were obtained by measuring the facial regions of women that have been photographed throughout their lives. The present work is first concerned with discussing a methodology to define the aging parameters that can be measured, and second with representing the age effects graphically.