Clinical aspects and main diagnostic methods of Chediak-Higashi syndrome

Chediak-Higashi Syndrome is a pathology caused by a mutation in the LYST gene, characterized by immunodeficiency, oculocutaneous albinism, and neurological dysfunction resulting from neutrophil changes. Homozygotes die in the first decade of life. The study is about literature review from different sources, with articles extracted from the SciELO, LILACS, MEDLINE, Google Scholar, and PubMed databases, published between 2000 and 2018, the main objective was to report the pathophysiology, the clinic, and the most known diagnostic methods. The syndrome affects the hematological and neurological systems, and the first laboratory diagnosis is by the verification of giant granules in leukocytes, mainly neutrophils in the peripheral blood and bone marrow. The definitive diagnosis is made by cytochemical reaction (myeloperoxidase) and detection of mutation by molecular methods.Chediak-Higashi Syndrome is a pathology caused by a mutation in the LYST gene, characterized by immunodeficiency, oculocutaneous albinism, and neurological dysfunction resulting from neutrophil changes. Homozygotes die in the first decade of life. The study is about literature review from different sources, with articles extracted from the SciELO, LILACS, MEDLINE, Google Scholar, and PubMed databases, published between 2000 and 2018, the main objective was to report the pathophysiology, the clinic, and the most known diagnostic methods. The syndrome affects the hematological and neurological systems, and the first laboratory diagnosis is by the verification of giant granules in leukocytes, mainly neutrophils in the peripheral blood and bone marrow. The definitive diagnosis is made by cytochemical reaction (myeloperoxidase) and detection of mutation by molecular methods

Estudo de cepas de Staphylococcus aureus isoladas de amostras nasais e linguais de portadores voluntários adultos saudáveis

Neste estudo investigou-se a colonização por S. aureus e a associação entre cepas isoladas dos sítios nasal e lingual de voluntários adultos saudáveis. Adicionalmente verificou-se a presença de cepas MRSA, BORSA, com resistência constitutiva ou induzida à clindamicina e os portadores que persistiram após cinco meses. Foram obtidos swabs dos sítios nasal e lingual de 100 indivíduos adultos sem histórico de internação hospitalar, sem contato com serviços de saúde, doença de base, diabete e sem uso de antibióticos. Dos pacientes, 9,0% tiveram S. aureus isolados apenas do sítio nasal, 4,0% apenas no sítio lingual e 4,0% nos dois sítios. Uma cepa nasal foi considerada fenotipicamente MRSA com características de CA MRSA e uma foi considerada BORSA. Quatro cepas (19,0%) demonstraram resistência induzida à clindamicina. Uma delas de origem nasal e outra de origem lingual de diferentes indivíduos. As outras duas eram de origem nasal e lingual de um mesmo indivíduo. Entre os portadores 10,0% e 5,0% foram carreadores persistentes nasais e linguais respectivamente. O portador de MRSA nasal foi considerado persistente. A associação entre cepas nasal e lingual de um mesmo indivíduo foi excluída para um dos pacientes e confirmada por PFGE para os demais. Dentre os portadores persistentes, 2 foram persistentes apenas no sítio lingual. Os resultados de PFGE confirmaram que um deles era portador persistente do mesmo clone apenas no sítio lingual. Estes resultados sugerem que uma atenção específica ao sítio lingual nas profilaxias cirúrgicas com mupirocina poderia melhorar o resultado de seu emprego. Adicionalmente a associação clonal entre cepas nasal e lingual sugere que o sítio lingual seja um sítio provável para recolonizações pelos mesmos clones após profilaxia com mupirocina...In this study we attempted to investigate S. aureus colonization in healthy adult volunteer and tried to establish the correlation between strains isolated from the nasal and lingual sites. Additionally we verified the presence of MRSA, BORSA, clindamycin constitutive and inducible resistant and investigate the persistent carriers after 5 months. The swabs were obtained from nasal and lingual sites from 100 adult patients without a history of hospitalization, health care contact, antimicrobial use, basis disease and diabetes. Of the patients, 9.0% had only nasal colonization, 4,0% only lingual colonization and 4,0% had S. aureus colonization in both (nasal and lingual) sites. From the nasal isolations, one was considered a phenotypic methicillinresistant strain with CA MRSA s characteristics and one a borderline oxacillin resistant. No one constitutive clindamycin constitutive resistant strain was isolated. Four isolations (19,0%) demonstrated inducible clindamycin resistance. One of them was from the nasal and another from the lingual site from different patients. The other two, were isolated from the same patient in both sites. From the nasal and lingual carriers 10,0% and 5,0% respectively were persistent carriers. The nasal methicillinresistant carrier was considered persistent. The clonally association between nasal and lingual strains in the same patient was excluded for one patient and confirmed by PFGE for the others. From the persistent 2 were only lingual persistent carriers. The PFGE confirmed that one of them was colonized with the same clone. It suggests that special attention should also be directed to this site for the control of nosocomial infection. It should be better the results of prophylaxis. In addition the association between the nasal and lingual strains suggested that lingual site can be a possible site for same clone recolonization after mupirocin prophylaxis ...(Complete abstract click electronic access below

Clinical aspects and main diagnostic methods of Chediak-Higashi syndrome

Chediak-Higashi Syndrome is a pathology caused by a mutation in the LYST gene, characterized by immunodeficiency, oculocutaneous albinism, and neurological dysfunction resulting from neutrophil changes. Homozygotes die in the first decade of life. The study is about literature review from different sources, with articles extracted from the SciELO, LILACS, MEDLINE, Google Scholar, and PubMed databases, published between 2000 and 2018, the main objective was to report the pathophysiology, the clinic, and the most known diagnostic methods. The syndrome affects the hematological and neurological systems, and the first laboratory diagnosis is by the verification of giant granules in leukocytes, mainly neutrophils in the peripheral blood and bone marrow. The definitive diagnosis is made by cytochemical reaction (myeloperoxidase) and detection of mutation by molecular methods.Chediak-Higashi Syndrome is a pathology caused by a mutation in the LYST gene, characterized by immunodeficiency, oculocutaneous albinism, and neurological dysfunction resulting from neutrophil changes. Homozygotes die in the first decade of life. The study is about literature review from different sources, with articles extracted from the SciELO, LILACS, MEDLINE, Google Scholar, and PubMed databases, published between 2000 and 2018, the main objective was to report the pathophysiology, the clinic, and the most known diagnostic methods. The syndrome affects the hematological and neurological systems, and the first laboratory diagnosis is by the verification of giant granules in leukocytes, mainly neutrophils in the peripheral blood and bone marrow. The definitive diagnosis is made by cytochemical reaction (myeloperoxidase) and detection of mutation by molecular methods

Oxytocin promotes bone formation during the alveolar healing process in old acyclic female rats

Objective: OT was reported to be a direct regulator of bone mass in young rodents, and this anabolic effect on bone is a peripheral action of OT. The goal of this study was to investigate the peripheral action of oxytocin (OT) in the alveolar healing process in old female rats.Materials and methods: Females Wistar rats (24-month-old) in permanent diestrus phase, received two ip (12 h apart) injections of saline (NaCl 0.15 M - control group) or OT (45 mu g/rat - treated group). Seven days later, the right maxillary incisor was extracted and analyses were performed up to 28 days of the alveolar healing process (35 days after saline or OT administration).Results: Calcium and phosphorus plasma concentrations did not differ between the groups. The plasma biochemical bone formations markers, alkaline phosphatase (ALP) and osteocalcin were significantly higher in the treated group. Histomorphometric analyses confirmed bone formation as the treated group presented the highest mean value of post-extraction bone formation. Tartrate-resistant acid phosphatase (TRAP) was significantly reduced in the treated group indicating an anti-resorptive effect of OT. Immunohistochemistry reactions performed in order to identify the presence of osteocalcin and TRAP in the bone cells of the dental socket confirmed these outcomes.Conclusions: OT was found to promote bone formation and to inhibit bone resorption in old acyclic female rats during the alveolar healing process. Published by Elsevier Ltd