Detection and characterisation of β-globin gene cluster deletions in Chinese using multiplex ligationdependent probe amplification

Background: Deletions in the β-globin cluster causing thalassaemia and hereditary persistence of fetal haemoglobin (HPFH) are uncommon and difficult to detect. Data in Chinese are very scarce. Aims: To use a recently available technique to investigate the frequencies and nature of β-globin cluster deletions in Chinese. Methods: 106 subjects with phenotypes of thalassaemia or HPFH and suspected to have deletions in the β-globin cluster were studied. A commercially available kit employing multiplex ligation-dependent probe amplification (MLPA) was used to screen for deletions. Gap PCR and direct nucleotide sequencing were used to characterise deletions detected. Results: 17 deletions in the β-globin cluster were found in 17 patients: 8 of Chinese (Aγδβ)0 thalassaemia, 7 of Southeast Asian (Vietnamese) deletion and 2 of Thai (Aγδβ) 0 thalassaemia. The only type of deletion detected in δβ-thalassaemia was Chinese (Aγδβ) 0 thalassaemia. The deletional form of HPFH was rarely seen in only 1 case of Thai (Aγδβ)0 thalassaemia. Deletions presenting as β-thalassaemia trait and raised HbF were all of the Southeast Asian (Vietnamese) deletion type. When these deletions were co-inherited with classical β-thalassaemia mutations in compound heterozygous states, the phenotypes could be very variable. Conclusions: In the Chinese population, there are only relatively few types of deletions seen in the β-globin cluster. MLPA is a fast and effective way of screening for these deletions. Characterisation of these deletions allows the development of simpler and more specific PCR-based tests for routine diagnostic use. Accurate prediction of phenotype is not always feasible. The molecular defects in many cases of HPFH still await discovery.published_or_final_versio

Hypercalcemia in a patient with disseminated paracoccidioidomycosis: a case report

<p>Abstract</p> <p>Introduction</p> <p>Hypercalcemia is well described in various granulomatous disorders, such as sarcoidosis, tuberculosis, berylliosis, leprosy and fungal infections. However, the association of <it>Paracoccidioides brasiliensis </it>and hypercalcemia is rare: to the best of our knowledge, only two cases have previously been reported, and neither had a clear documentation of the etiology of the hypercalcemia.</p> <p>Case presentation</p> <p>We report the case of a 22-year-old man in whom disseminated infection with paracoccidioidomycosis was associated with hypercalcemia. The patient had a high normal serum level of 1,25-dihydroxyvitamin D and a suppressed parathyroid hormone value, an indication that the hypercalcemia was not mediated by parathyroid hormone and might be associated with 1,25-dihydroxyvitamin D.</p> <p>Conclusion</p> <p>The episode resolved readily with administration of corticosteroids, an outcome suggesting that this is an effective treatment of hypercalcemia of this origin. On follow-up, while receiving antifungal therapy for <it>P. brasiliensis </it>the patient's calcium values remained normal.</p

Periodic Active Case Finding for TB: When to Look?

OBJECTIVE: To investigate the factors influencing the performance and cost-efficacy of periodic rounds of active case finding (ACF) for TB. METHODS: A mathematical model of TB dynamics and periodic ACF (PACF) in the HIV era, simplified by assuming constant prevalence of latent TB infection, is analyzed for features that control intervention outcome, measured as cases averted and cases found. Explanatory variables include baseline TB incidence, interval between PACF rounds, and different routine and PACF case-detection rates among HIV-infected and uninfected TB cases. FINDINGS: PACF can be cost-saving over a 10 year time frame if the cost-per-round is lower than a threshold proportional to initial incidence and cost-per-case-treated. More cases are averted at higher baseline incidence rates, when more potent PACF strategies are used, intervals between PACF rounds are shorter, and when the ratio of HIV-negative to positive TB cases detected is higher. More costly approaches, e.g. radiographic screening, can be as cost-effective as less costly alternatives if PACF case-detection is higher and/or implementation less frequent. CONCLUSION: Periodic ACF can both improve control and save medium-term health care costs in high TB burden settings. Greater costs of highly effective PACF at frequent (e.g. yearly) intervals may be offset by higher numbers of cases averted in populations with high baseline TB incidence, higher prevalence of HIV-uninfected cases, higher costs per-case-treated, and more effective routine case-detection. Less intensive approaches may still be cost-neutral or cost-saving in populations lacking one or more of these key determinants

A review of the distribution of particulate trace elements in urban terrestrial environments and its application to considerations of risk

We review the evolution, state of the art and future lines of research on the sources, transport pathways, and sinks of particulate trace elements in urban terrestrial environments to include the atmosphere, soils, and street and indoor dusts. Such studies reveal reductions in the emissions of some elements of historical concern such as Pb, with interest consequently focusing on other toxic trace elements such as As, Cd, Hg, Zn, and Cu. While establishment of levels of these elements is important in assessing the potential impacts of human society on the urban environment, it is also necessary to apply this knowledge in conjunction with information on the toxicity of those trace elements and the degree of exposure of human receptors to an assessment of whether such contamination represents a real risk to the city’s inhabitants and therefore how this risk can be addressed

PENGARUH MINUMAN UMBI RUMPUT TEKI (CYPERUS ROTUNDUS) TERHADAP RATA-RATA NYERI HAID MAHASISWI YANG SEDANG MENYUSUN TUGAS AKHIR DI FAKULTAS KEPERAWATAN UNIVERSITAS ANDALAS PADANG

Angka kejadian nyeri haid didunia sangat besar, rata-rata lebih dari 50% wanita disetiap negara mengalami nyeri haid. Keluhan ini bersifat subjektif, berat dan intensitasnya sukar dinilai, beberapa efek yang timbul berupa sakit kepala, mual, muntah, kelemahan fisik, diare bahkan sampai pingsan. Salah satu perawatan nyeri haid secara non-farmakologi adalah dengan minuman umbi rumput teki (Cyperus Rotundus) yang dapat menurunkan nyeri haid. Tujuan untuk mengetahui pengaruh minuman umbi rumput teki terhadap rata-rata nyeri haid mahasiswi yang sedang menyusun tugas akhir di Fakultas Keperawatan Universitas Andalas Padang tahun 2014. Penelitian ini dilakukan pada tanggal 1 juli 2014 sampai 13 agustus 2014 menggunakan desain Quasi Eksperiment dengan rancangan One Group Pretest-Posttest terhadap 16 orang mahasiswi dengan nyeri haid, alat ukur menggunakan mankosky pain scale. Uji statistik yang digunakan adalah uji wilcoxon. Rata-rata nyeri haid pre-test pada responden adalah 5,94 (SD±0,772) dan post-test 2,56 (SD±0,964), terdapat perbedaan yang bermakna antara skala nyeri sebelum dan sesudah diberikan minuman umbi rumput teki dengan p=0,000 (p<0,05). Dengan demikian minuman umbi rumput teki berpengaruh terhadap rata-rata nyeri haid mahasiswi. Disarankan untuk menggunakan minuman umbi rumput teki sebagai salah satu alternatif terapi nonfarmakologi pada penderita nyeri haid. Kata kunci : nyeri haid, mahasiswi, minuman umbi rumput teki. Daftar Pustaka: 41 (2002-2013

Proyecto De Prácticas Desempeñado En Tejas Y Perfiles Villavicencio Mc Sas

Informe Final de práctica, donde el estudiante relaciona todo lo solicitado, según normatividad vigente, para así, cursar y aprobar la práctica como requisito.Índice................................................................................................................................... 3 Reseña Histórica ................................................................................................................. 6 Plan Estratégico .................................................................................................................. 7 Misión ............................................................................................................................. 7 Visión .............................................................................................................................. 7 Objetivos ......................................................................................................................... 7 Objetivo general .......................................................................................................... 7 Objetivos específicos .................................................................................................. 7 Metas ............................................................................................................................... 7 Funciones Y Procedimientos A Desarrollar ....................................................................... 8 Objetivo General ............................................................................................................. 8 Objetivos Específicos...................................................................................................... 8 Metas Propuestas Para La Practica ..................................................................................... 8 Diagnóstico Y La Problemática Detectada Al Iniciar Las Practicas .................................. 8 Cronograma De Actividades ............................................................................................. 10 Plan De Practicas .............................................................................................................. 11 Descripción de las actividades y funciones desarrollados por el practicante ................... 12 PRACTICAS EMPRESARIALES 4 Causación de gastos: ..................................................................................................... 12 Facturación electrónica: ................................................................................................ 13 Conciliaciones: .............................................................................................................. 13 Documentos contables: ................................................................................................. 14 Recibos de caja: ............................................................................................................ 14 Comprobantes de egreso: .............................................................................................. 14 Normatividad Externa E Interna Que Rige A La Entidad De Práctica ............................. 15 Estructura Del Diagnóstico ............................................................................................... 16 Falta De Organización .............................................................................................. 16 Desconocimiento De La Norma................................................................................ 16 Ausencia De Un Control De Inventario .................................................................... 16 Disponibilidad De La Administración ...................................................................... 16 Sistema Contable ...................................................................................................... 17 Licencias ................................................................................................................... 17 Equipos en condiciones............................................................................................. 17 Asesor Contable ........................................................................................................ 17 Arraigo De Los Procesos .......................................................................................... 17 Escepticismo A Las Pospuestas Dadas Por El Practicante ....................................... 17 Plan De Mejoramiento ...................................................................................................... 18 PRACTICAS EMPRESARIALES 5 Porcentaje De Implementación Del Plan De Práctica Presentado Al Inicio De La Práctica Laboral, A La Fecha Del Informe ................................................................................................. 19 APORTES Y SUGERENCIAS ........................................................................................ 21 PRODUCTOS COMO RESULTADO ............................................................................. 23 Evidencia De La Ejecución Total De La Practica ............................................................ 25 SISTEMA KARDEX .................................................................................................... 25 Certificado......................................................................................................................... 29 Prácticas Empresariales .................................................................................................... 30 Bibliografía ....................................................................................................................... 3