13 research outputs found
Glycine Betaine Catabolism Contributes to Pseudomonas syringae Tolerance to Hyperosmotic Stress by Relieving Betaine-Mediated Suppression of Compatible Solute Synthesis
Discinesia ciliar primária: considerações sobre seis casos da sĂndrome de Kartagener Primary ciliary dyskinesia: considerations regarding six cases of Kartagener syndrome
A discinesia ciliar primária (DCP), anteriormente conhecida como sĂndrome dos cĂlios imĂłveis, Ă© uma doença hereditária autossĂ´mica recessiva que inclui vários padrões de defeitos em sua ultra-estrutura ciliar. Sua forma clĂnica mais grave Ă© a sĂndrome de Kartagener (SK), a qual Ă© encontrada em 50% dos casos de DCP. A DCP causa deficiĂŞncia ou mesmo estase no transporte de secreções em todo o trato respiratĂłrio, favorecendo a proliferação de vĂrus e bactĂ©rias. Sua incidĂŞncia varia de 1:20.000 a 1:60.000. Como conseqĂĽĂŞncia, os pacientes apresentam infecções crĂ´nicas e repetidas desde a infância e geralmente sĂŁo portadores de bronquite, pneumonia, hemoptise, sinusite e infertilidade. As bronquiectasias e outras infecções crĂ´nicas podem ser o resultado final das alterações irreversĂveis dos brĂ´nquios, podendo progredir para cor pulmonale crĂ´nico e suas conseqĂĽĂŞncias. Somente a metade dos pacientes afetados pela DCP apresenta todos os sintomas, condição denominada SK completa; no restante, nĂŁo ocorre situs inversus, condição denominada SK incompleta. O diagnĂłstico Ă© feito com base no quadro clĂnico e confirmado por meio da microscopia eletrĂ´nica de transmissĂŁo. Como nĂŁo há tratamento especifico para a DCP, recomenda-se que, tĂŁo logo seja feito o diagnĂłstico, as infecções secundárias sejam tratadas com antibiĂłticos potentes e medidas profiláticas sejam adotadas. Neste trabalho, relatamos seis casos de DCP (cinco casos de SK completa e um caso de SK incompleta) e revisamos a literatura sobre o assunto, tendo como foco os aspectos diagnĂłsticos, terapĂŞuticos e clĂnicos desta doença.<br>Primary ciliary dyskinesia (PCD), previously known as immotile cilia syndrome, is an autosomal recessive hereditary disease that includes various patterns of ciliary ultrastructural defects. The most serious form is Kartagener syndrome (KS), which accounts for 50% of all cases of PCD. The incidence of PCD ranges from 1:20,000 to 1:60,000. Since PCD causes deficiency or even stasis of the transport of secretions throughout the respiratory tract, it favors the growth of viruses and bacteria. As a result, patients have lifelong chronic and recurrent infections, typically suffering from bronchitis, pneumonia, hemoptysis, sinusitis, and infertility. Bronchiectasis and other chronic conditions infections can be the end result of the irreversible bronchial alterations, leading to chronic cor pulmonale and its consequences. Only half of the patients affected by PDC present all of the symptoms, a condition designated complete KS, compared with incomplete KS, typically defined as cases in which situs inversus does not occur. The diagnosis is made clinically and confirmed through transmission electron microscopy. Since there is no specific therapy for PCD, it is recommended that, upon diagnosis, secondary infections be treated with potent antibiotics and prophylactic interventions be implemented. In this paper, we report six cases of PCD (five cases of complete KS and one case of KS) and review the related literature, focusing on the diagnostic, therapeutic and clinical aspects of this disease
Comparative Analysis of Putative Orthologues of Mitochondrial Import Motor Subunit: Pam18 and Pam16 in Plants
Discovery of Genes Related to Witches Broom Disease in Paulownia tomentosa Ă— Paulownia fortunei by a De Novo Assembled Transcriptome
Connection promoted by annual floods shaping the response community attributes of shallow lakes fish inhabit the upper Paraná River floodplain
Stress echo 2020: the international stress echo study in ischemic and non-ischemic heart disease
Mortality from HIV and TB coinfections is higher in Eastern Europe than in Western Europe and Argentina
Membro del HIV/TB Study Writing Group per la ricerca collaborativa pubblicata sulla rivista: AID