GRISCELLI SYNDROME; A CASE REPORT AND REVIEW OF THE LITERATURE

Abstract:Griscelli syndrome (GS) is a rare disease first described in 1978. It is inherited in autosomal recessive pattern. This disease is characterized by partial albinism, pigmentation dilution, cellular immunodeficiency, neurological involvement & uncontrolled phases of macrophage & lymphocyte activation.We report a 5 months Old Iranian girl presenting with silver-gray hair,eyelashes and eyebrows, hepatosplenomegaly, pancytopenia, hemophagocytosis and progressive neurologic deterioration. Griscelli syndrome can be suggested according to her symptoms. The chemotherapy was not effective for her and she died due to multi organ failure.Key words:Griscelli syndrome, Hemophagocytosis, Albinism

EFFECTS OF ORAL IRON SUPPLEMENT ON BREATH-HOLDING SPELLS IN CHILDREN

Objectives:Breath holding spells are one of the most frequent and important diagnostic challenges in pediatrics. The aim of this study, conducted on pediatric patients referring to the pediatric neurology clinic in Hormozgan province, was to evaluate therapeutic effects of iron on breath holding spellsMaterials and Methods:35 children (19 males and 16 females), aged between 3 to 60 months, with a history of breath-holding spells, were included in the trial. To obtain all relevant data a specifically designed questionnaire requiring information on sex, age, age of onset of spells, type of spells, frequency of attacks before and after treatment with oral iron supplement, and determinants of body iron stores was completed for all the patients, based on the mother's statements. The patients were treated by an oral iron preparation for three months.Results:The age of onset of spells ranged between 6 to 24 months. The cyanotic type of spell was detected in 31 children, the pallid type in 3, and the mixed type in one child. There were 14 children with iron deficiency anemia and 20 children with reduced iron stores. Just one child had a normal iron profile. Complete therapeutic response was documented in 24 children, good response in 9, and poor response in one and in one child no change in frequency of spells was seen.Conclusion:Although no significant therapeutic difference was seen in the different response groups, it seems that iron supplement may play an important role in reducing breath holding spells in children.Keywords:Iron, Breath holding spell, children, Iron deficiency Anemi

Increased concentration of two different advanced glycation end-products detected by enzyme immunoassays with new monoclonal antibodies in sera of patients with rheumatoid arthritis

<p>Abstract</p> <p>Background</p> <p>Levels of pentosidine (representative of advanced glycation end-products) in sera of patients with rheumatoid arthritis are increased when compared with sera of other diagnoses or healthy controls. These levels have been reported to correlate with clinical indices of rheumatoid arthritis activity and with laboratory markers of inflammation. The purpose of this study was to find out if these findings pertain to other advanced glycation end-products.</p> <p>Methods</p> <p>We have developed two immunoassays based on new monoclonal antibodies to advanced glycation end-products. Antibody 103-E3 reacts with an unidentified antigen, formed in the reaction of proteins with ribose, while antibody 8-C1 responds to N^ε-(carboxyethyl)lysine. We have used these monoclonal antibodies to measure levels of advanced glycation end-products in sera of patients with rheumatoid arthritis, systemic lupus erythematosus, osteoarthritis, and healthy controls. We calculated the correlations between advanced glycation end-product levels in rheumatoid arthritis sera and the Disease Activity Score 28 (DAS28), age, disease duration, CRP, anti-CCP, rheumatoid factor and treatment with corticosteroids, respectively.</p> <p>Results</p> <p>Levels of both glycation products were significantly higher in sera of patients with rheumatoid arthritis when compared with sera of patients with systemic lupus erythematosus, osteoarthritis, or the healthy controls. Neither the level of N^ε-(carboxyethyl)lysine nor the level of the 103-E3 antigen in rheumatoid arthritis sera correlated with the DAS28-scored rheumatoid arthritis activity. The levels of both antigens in rheumatoid arthritis sera did not correlate with age, gender, corticosteroid treatment, or levels of CRP, anti-CCP antibodies, and rheumatoid factor in sera.</p> <p>Conclusions</p> <p>We report highly specific increases in the levels of two advanced glycation end-products in sera of patients with rheumatoid arthritis. This increase could be explained neither by rheumatoid arthritis activity nor by inflammation. We propose a working hypothesis that presumes the existence of a link between advanced glycation end-product formation and induction of autoimmunity.</p

Sensing and adhesion are adaptive functions in the plant pathogenic xanthomonads

<p>Abstract</p> <p>Background</p> <p>Bacterial plant pathogens belonging to the <it>Xanthomonas </it>genus are tightly adapted to their host plants and are not known to colonise other environments. The host range of each strain is usually restricted to a few host plant species. Bacterial strains responsible for the same type of symptoms on the same host range cluster in a pathovar. The phyllosphere is a highly stressful environment, but it provides a selective habitat and a source of substrates for these bacteria. Xanthomonads colonise host phylloplane before entering leaf tissues and engaging in an invasive pathogenic phase. Hence, these bacteria are likely to have evolved strategies to adapt to life in this environment. We hypothesised that determinants responsible for bacterial host adaptation are expressed starting from the establishment of chemotactic attraction and adhesion on host tissue.</p> <p>Results</p> <p>We established the distribution of 70 genes coding sensors and adhesins in a large collection of xanthomonad strains. These 173 strains belong to different pathovars of <it>Xanthomonas </it>spp and display different host ranges. Candidate genes are involved in chemotactic attraction (25 genes), chemical environment sensing (35 genes), and adhesion (10 genes). Our study revealed that candidate gene repertoires comprised core and variable gene suites that likely have distinct roles in host adaptation. Most pathovars were characterized by unique repertoires of candidate genes, highlighting a correspondence between pathovar clustering and repertoires of sensors and adhesins. To further challenge our hypothesis, we tested for molecular signatures of selection on candidate genes extracted from sequenced genomes of strains belonging to different pathovars. We found strong evidence of adaptive divergence acting on most candidate genes.</p> <p>Conclusions</p> <p>These data provide insight into the potential role played by sensors and adhesins in the adaptation of xanthomonads to their host plants. The correspondence between repertoires of sensor and adhesin genes and pathovars and the rapid evolution of sensors and adhesins shows that, for plant pathogenic xanthomonads, events leading to host specificity may occur as early as chemotactic attraction by host and adhesion to tissues.</p

Barriers and facilitators to Hepatitis C (HCV) Screening and Treatment – A Prisoners’ Perspective

Background: Hepatitis C Virus (HCV) infection is a global epidemic with an estimated 71 million people infected worldwide. People who inject drugs (PWID) are over represented in prison populations globally and have higher levels of HCV infection than the general population. Despite increased access to primary health care while in prison, many HCV infected prisoners do not engage with screening or treatment. With recent advances in treatment regimes, HCV in now a curable and preventable disease and prisons provide an ideal opportunity to engage this hard to reach population. Aim: To identify barriers and enablers to HCV screening and treatment in prisons Methods: A qualitative study of four prisoner focus groups (n=46) conducted at two prison settings in Dublin, Ireland. Results: The following barriers to HCV screening and treatment were identified, lack of knowledge, concerns regarding confidentiality and stigma experienced and inconsistent and delayed access to prison health services. Enablers identified included; access to health care, opt-out screening at committal, peer support, and stability of prison life which removed many of the competing priorities associated with life on the outside. Unique blocks and enablers to HCV treatment reported were, fear of treatment and having a liver biopsy, the requirement to go to hospital and in-reach hepatology services and fibroscaning. Conclusion; The many barriers and enablers to HCV screening and treatment reported by Irish prisoners will inform both national and international public health HCV elimination strategies. Incarceration provides a unique opportunity to upscale HCV treatment and linkage to the community would support effectiveness

Comparaing the causes of abortion in patients with two or more than two consecutive miscarriages

&quot;n 800x600 Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:10.0pt; font-family:"Times New Roman","serif";} Background: Recurrent miscarriage is defined as the loss of three or more pregnancies. Recurrent Pregnancy Loss (RPL) is traditionally investigated after three or more consecutive losses. Although some believe that the investigation must be launched after two miscarriages, there is not enough compelling evidence to draw conclusion. &quot;n&quot;nMethods : In this cross-sectional study, we studied 58 women with two or more consecutive abortions (37 women with two and 21 women with three or more miscarriages) from 2005 to 2009. The following risk factors were analyzed and compared between the two groups: endocrine dysfunctions, genetic abnormalities, uterine anomalies, infections, thrombophilia, polycystic ovary syndrome, autoimmune disorders, sperm characteristics, and advanced maternal age.&quot;n&quot;nResults : We did not find any known factor for pregnancy losses in 18 (31.03%) patients but in the rest, the most common cause of Recurrent pregnancy loss was endocrine disorders (41.4%). The other causes were uterine abnormalities (12.1%), infections (12.1%), maternal age more than 35 years (12.1%), thrombophilia (8.6%), abnormal semen analysis (8.6%), genetic defects (6.9%) and autoimmune disorders (1.7%). There were no significant differences between the two groups in regards with the causes of abortion except uterine abnormality (P=0.039) which was more frequent in women with three or more three miscarriages (23.8%) relative to women with two abortions (5.4%).&quot;n&quot;nConclusion: There were no significant differences between women with two or women with three or more three abortions in regards with the causes of abortion except uterine anomalies. Therefore, it seems quite reasonable and perhaps beneficial to start the investigation in patients with two abortions

Root canal morphology and configuration of 123 maxillary second molars by means of micro-CT

The aim of this study was to investigate the root canal configuration, accessory canals and number of main foramina of 123 maxillary second molars by means of micro-computed tomography. The teeth were scanned and reproduced with 3D software imaging. The root canal configuration and number of main foramina were evaluated by means of a four-digit system. The morphological complexity of human maxillary second molars is depicted by the number of accessory and connecting canals. The most frequently observed root canal configurations in the mesiobuccal root were 2-2-2/2 (19.5%), 2-2-1/1 (14.6%) and 2-1-1/1 (13.0%). A 1-1-1/1 configuration was observed in 93.5% and in 96.7% in the distobuccal and palatal roots, respectively. The MB1 root canal had one accessory canal (18.7%), and 8.9% of the MB2 root canal had one or two accessory canals. The distobuccal (11.3%) and palatal (14.6%) root canals had at least one accessory canal, and connecting canals were observed in 16.3% of mesiobuccal roots. The MB1, MB2, distobuccal and palatal root canals had one main foramen in 99.2%, 43.1%, 98.4% and 99.2% of samples, respectively. In the mesiobuccal root, one accessory foramen was detected in 14.6%, two were detected in 7.3%, and three were detected in 5.7%. The distobuccal root showed one or two accessory foramina in 9.1% of samples. The root canal configuration of maxillary second molars is quite heterogeneous; the mesiobuccal root has predominantly two root canal entrances (58.4%, 1 in 41.1%) with one main foramen (54.4%). Two main foramina were observed in 43.0%. Morphological variations, connecting and accessory canals were observed in all apical thirds