Jeune syndrome with tongue lobulation and preaxial polydactyly,and Jeune syndrome with situs inversus and asplenia: Compound heterozygosity Jeune-Mohr and Jeune-Ivemark?

We report on a male infant with internal hydrocephalus, absence of corpus callosum, papillomas and lobulation of the tongue, notches of the alveolar ridges, short ribs, dysplastic pelvis, hypospadias, short limbs with bowed long tubular bones and postaxial polydactyly of hands, and preaxial polydactyly in one foot. Radiologically this case shares manifestations with Jeune syndrome; the tongue lobulation and the preaxial polydactyly are similar to findings in Mohr syndrome, or short-rib polydactyly syndrome (SRPS), type Majewski. In addition, a female newborn presented with manifestations of Jeune and Ivemark syndromes. One explanation for this overlap may be compound heterozygosity for these syndromes. © 1996 Wiley-Liss, Inc.     

Neutrophil Function and Apoptosis in Patients with Chronic Hepatitis C Treated with Pegylated Interferon α and Ribavirin

The role of neutrophils in the pathogenesis of chronic hepatitis C as well as the effect of pegylated interferon α (PEG-IFN-α) and ribavirin treatment on neutrophil function is not precisely known. The study included 32 patients with CCH aged between 19 and 58 years (mean 33.5 years). Before and after 12 weeks of treatment with Peg-IFN-α and ribavirin, intracellular reactive oxygen species (ROS) level, expression of adhesion molecules CD11b/MAC-1, CD16, CD18 and CD62L on neutrophils, as well as apoptosis and necrosis of these cells were analyzed with the use of flow cytometry. During antiviral therapy, a statistically significant decrease of mean fluorescence intensity for CD16 high and CD62 and increase for CD11b/MAC-1 along with the increased apoptosis and decreased necrosis of neutrophils were observed. After 12 weeks of treatment, intracellular ROS production by unstimulated neutrophils did not change, but after stimulation with phorbol 12-myristate 13-acetate, statistically significant increase of ROS level was observed. During PEG-IFN-α and ribavirin treatment, activation of neutrophil function and increased ROS production were reported, which possibly resulted in accelerated apoptosis of these cells.     

Mothers’ mental distress and parenting practices with infants and toddlers

Summary The purpose of this study was to examine whether maternal mental distress affects parenting practices related to monitoring activities (i.e. daily routines, enrichment activities). The nationally representative sample consisted of 1638 mothers. Maternal mental distress was assessed by the 5-item Mental Health Index (MHI). Logistic regression models were conducted, controlling for covariates (e.g. marital status, education level, etc.). Approximately 14% of the women reported high levels of mental distress and 25% of the women failed to engage in enrichment activities or consistent daily routines with their children. There was a significant adverse relationship between mental distress and routines, with women who were mentally distressed being more likely to not engage in daily routines. There was no significant relationship between mental distress and enrichment activities. Race differentials were evident among these relationships. These findings highlight the prevalence of maternal mental distress and its deleterious effects on select parenting behaviors.     

Racing with HIV-1： Challenges and Hope

We are racing with HIV -1,the etiologic agent for AIDS in human beings[1,2],with two possible end consequenc es:if we win,HIV-1 will be under our control by immunologic or therapeutic measures;if HIV-1 wins,the SIV-African monkeys′story would repeat in humans,i.e., only the few individuals that are not killed by the virus would survive the infection.The first possibility is what we wish,but the reality is that the virus is speeding up.Once the HIV-1 virus takes the lead in the race,v…     

Crohn's disease associated with Sweet's syndrome and Sjögren's syndrome treated with infliximab

The association of Crohn''s disease (CD) and Sweet''s syndrome is rare and the presence of Sjögren''s syndrome in Crohn''s disease is even rarer, with only three reports found in the literature. We describe two cases of Crohn''s disease associated with Sweet''s syndrome, one of which is the first case of CD and Sweet''s concomitantly associated with Sjögren''s syndrome. Both cases responded rapidly to Infliximab therapy with complete resolution of the skin lesions.     

Immunization with outer membrane proteins (OprF and OprI) and flagellin B protects mice from pulmonary infection with mucoid and nonmucoid Pseudomonas aeruginosa

Background

Pseudomonas aeruginosa is a Gram-negative opportunistic bacterium, which considered as a common cause of nosocomial infection and life-threatening complications in immunocompromized and cystic fibrosis patients. Here, we evaluate the protective effect of recombinant vaccines composed of outer membrane proteins OprF and OprI alone or in combination with flagellin B against mucoid and nonmucoid pseudomonas infection.

Coping with pain and surgery: Children’s and parents’ perspectives

This article examines relations between coping with general and postoperative pain. Children's and parent's coping ratings, and the contribution of temperament and coping to postoperative adjustment. Before and after day surgery, 7-to 12-year-olds (n = 124) rated their coping with pain. Parents rated their child's coping and temperament pain and distress were rated on the day of and 2 days following surgery. Coping with general and postoperative pain were moderately correlated (median r = .48). Except for distraction, all types of coping strategies were used more frequently for general than postoperative pain. Correlations between child and parent coping ratings were moderate (median r = .36). After controlling for emotionality and medications, lower levels of emotion-focused avoidance and higher levels of distraction were related to lower pain and distress. After controlling for a priori surgical group (no-low pain; moderate-high pain), emotionality, and medications, lower levels of emotion-focused avoidance were related to lower pain and distress but distraction was no longer significant in a number of the regressions. Coping with pain has trait-like qualities but differences in the nature and context of pain create differences in strategy use. Level of pain appears to influence the type of coping strategies used. Interventions should target children's use of distraction and minimize us of emotion-focused avoidance.     

Inflammatory myofibroblastic tumor of the lung with unique histological pattern and association with Sjögren's disease and systemic lupus erythematosus

Inflammatory myofibroblastic tumor (IMT) of the lung is a rare condition. Radiological properties and clinical presentation of this disease can mimic malignant process. We present a case of IMT of the lung in a 58 year old female patient with a single lung nodule. Tumor was unencapsulated, firm, and well circumscribed. Microscopically tumor had multinodular structure with single or multiple small blood vessels in the center of each nodule surrounded in circular pattern by connective tissue containing spindle cells embedded into the thick layers of extracellular matrix. Extracellular matrix was identified as type I and type III collagen fibrils embedded into type IV collagen and laminin. The tumor was surrounded by T-, B-lymphocytes and polyclonal plasma cells. Histological organization of this lesion's stromal component was unique, but cell composition was similar to inflammatory pseudotumor of the lung. In addition, tumor tissue sections exhibited strong positivity for IgG, weak positivity for IgA, 1Cq, but were negative for IgM, and C3. Mutational analysis of the EGFR, KRAS genes and ALK locus rearrangement were performed and did not reveal any mutations. This is the first report of an IMT associated with Sjögren's disease, systemic lupus erythematosus and Non-Hodgkin lymphoma developing in the lungs. Patient was clinically followed up for 18 months and no recurrence of the tumor observed.     

Will use of patient portals help to educate and communicate with patients with diabetes?

Objective

Chronic disease management can require daily attention, and increased levels of patient activation and engagement. We examined whether patients with diabetes perceive a greater benefit to having electronic access to their doctors’ clinic notes compared to patients without diabetes. We hypothesized that easy electronic access to these notes may help patients with self-care by improving education and communication.

Infections with VIM-1 Metallo-β-Lactamase-Producing Enterobacter cloacae and Their Correlation with Clinical Outcome

The aim of this study was to ascertain the incidence and clinical significance of metallo-β-lactamases among Enterobacter strains isolated from patients with nosocomial infections. We prospectively collected data on patients with Enterobacter infection during a 13-month period. All of the strains were investigated for antibiotic susceptibility, the presence and expression of metallo-β-lactamases, and clonality. Of 29 infections (11 involving the urinary tract, 7 pneumonias, 3 skin/soft tissue infections, 3 intra-abdominal infections, 3 bacteremias, and 2 other infections), 7 (24%) were caused by Enterobacter cloacae strains harboring a bla_VIM-1 gene associated or not with a bla_SHV12 gene. Infections caused by VIM-1-producing strains were more frequently associated with a recent prior hospitalization (P = 0.006), cirrhosis (P = 0.03), relapse of infection (P < 0.001), and more prolonged duration of antibiotic therapy (P = 0.01) than were other infections. All of the isolates were susceptible to imipenem and meropenem and had bla_VIM-1 preceded by a weak P1 promoter and inactivated P2 promoters. Most VIM-1-producing Enterobacter isolates belonged to a main clone, but four different clones were found. Multiclonal VIM-1-producing E. cloacae infections are difficult to diagnose due to an apparent susceptibility to various beta-lactams, including carbapenems, and are associated with a high relapse rate and a more prolonged duration of antibiotic therapy.The emergence of metallo-β-lactamases (MBLs) in the Enterobacteriaceae is a matter of major concern for clinicians worldwide (7, 28). Infection with VIM-1-producing Klebsiella pneumoniae has become endemic in some European nations (especially in the intensive care units of tertiary care hospitals in Greece [23]), and sporadic cases of infection due to multidrug-resistant Enterobacteriaceae carrying bla_VIM-1 have also been reported (18, 23). In a recent Italian nationwide survey of acquired MBLs in gram-negative pathogens, among 14,812 consecutive nonreplicate clinical isolates (12,245 Enterobacteriaceae isolates and 2,567 gram-negative nonfermenters) screened for reduced carbapenem susceptibility during a 4-month period, 30 (0.2%) isolates (28 Pseudomonas aeruginosa isolates, 1 Pseudomonas putida isolate, and 1 Enterobacter cloacae isolate) carried acquired MBL determinants (20). Despite the presence of an MBL, the carbapenem MICs are frequently below the current resistance breakpoints (23), and no clinical information is available on the outcomes of patients infected with carbapenem-susceptible MBL-producing Enterobacteriaceae.Enterobacter spp. are an important cause of nosocomial infection, but only a few cases of infection due to MBL-producing E. cloacae have been reported in the English literature worldwide (10, 16, 23, 29). In our hospital, we recently observed a fatal case of hospital-acquired pneumonia caused by a VIM-1-producing E. cloacae strain (18). This first episode prompted us to a careful monitoring of Enterobacter infections, to ascertain the incidence and the outcome of MBL production among cases of severe nosocomial infections caused by this species and to better define the biochemical characteristics of MBL-producing strains.(This work was presented in part at the 48th Interscience Conference on Antimicrobial Agents and Chemotherapy, September 2008, Washington, DC [5a].)     

Anti-myeloperoxidase and anti-lactoferrin antibodies in patients with IgA nephropathy and Henoch-Schönlein purpura

Antineutrophil cytoplasmic antibodies (ANCA) for two antigens, i.e. myeloperoxidase (MPO) and lactoferrin (LF) in sera from 19 IgA nephropathy (IgAN), 3 adult Henoch-Sch?nlein purpura (HSP) and 8 child HSP patients were examined by enzyme-linked immunoabsorbent assay (ELISA) for immunoglobulin isotypes. All of child HSP patients showed negative ANCA. On the other hand, one IgAN patient and two adult HSP patients showed weak positivity for IgA class anti-MPO antibody. There was no patients who showed positivity for IgG and IgM class anti-MPO antibody. In anti-LF antibody, one IgAN and one adult HSP showed positivity in IgG class; 2 IgAN and 2 HSP in IgA class and 2 IgAN and one HSP in IgM class. These results indicate that adult HSP patients have higher prevalence of IgA class anti-MPO antibody and anti-LF antibody than IgAN or child HSP.     

The grafting PET and PVA fibers coated with soybean lecithin and their blood-compatibility properties

It is well known thathuman blood vessel hasan innermembrane constituted bylipid-protein LB (Langmuir-Blodgett) bilayer membrane,and exhibits an excellentanti-coagulant property.If we prepare biomaterials to imitate the structures andcompositions of the in…     

Chronic lymphocytic leukemia with paraimmunoblastic transformation – with comparative genomic hybridization and review of the literature

Richter's transformation (RT) is the development of a high-grade lymphoma in patients with B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). We report an extremely rare case with paraimmunoblastic transformation. A 78-year-old Taiwanese male had Rai stage 1 and Binet stage B CLL/SLL involving skin, peripheral blood (PB), and bone marrow (BM) with paraimmunoblastic transformation in the lymph node. Molecular/genomic studies showed the same clonal origin of tumor tissues at various locations with trisomy 12 and a deletion of chromosome 13q14. Interestingly, there seemed to be no additional chromosomal aberrations in the transformed nodal tissue, suggesting that the micro-environment rather than an additional genetic lesion contributed to the transformation. The patient received chemotherapy and was alive with disease after 33.5 months.     

Type and prevalence of BRAF mutations are closely associated with papillary thyroid carcinoma histotype and patients’ age but not with tumour aggressiveness

A high prevalence of the BRAF^V600E somatic mutation was recently reported in several series of papillary thyroid carcinomas (PTC). This mutation appears to be particularly prevalent in PTC with a predominantly papillary architecture. Another BRAF mutation (K601E) was detected in a follicular adenoma and in some cases of the follicular variant of PTC. The few studies on record provided controversial data on the relationship between the occurrence of BRAF mutations and clinicopathologic parameters such as gender, age and tumour staging. In an attempt to clarify such controversies we decided to enlarge our previous series to 315 tumours or tumour-like lesions diagnosed in 280 patients, including a thorough analysis of several clinicopathologic features. The BRAF^V600E mutation was exclusively detected in PTC with a papillary or mixed follicular/papillary architecture both of the conventional type (46%) and of other histotypes, such as microcarcinoma (43%), Warthin-like PTC (75%) and oncocytic variant of PTC (55%). The BRAF^K601E mutation was detected in four of the 54 cases of the follicular variant of PTC (7%). The mean age of patients with conventional PTC harbouring BRAF^V600E (46.7 years) was significantly higher (P<0.0001) than that of patients with conventional PTC without BRAF^V600E (29.5 years). The BRAF (BRAF^V600E) mutated PTC did not exhibit signs of higher aggressiveness (size, vascular invasion, extra-thyroid extension and nodal metastasis) and were in fact less often multicentric than PTC without the mutation.V. Trovisco and P. Soares contributed equally to this workFundação para a Ciência e Tecnologia POCTI/FEDER (POCTI/NSE/48171/2002)     

Is Skin Tag Associated with Diabetic Macro and Microangiopathy?

Introduction

Although skin tag is associated with diabetes mellitus, no data in the literature show that the presence of skin tag is associated with diabetic macro and microangiopathy. The purpose of this study was to investigate the frequency of hypertension, dyslipidemia, obesity, macro and micro angiopathy in type 2 diabetic patients with and without skin tag.

Brain atrophy and cognition: Interaction with cerebrovascular pathology?

We examined the interaction of brain atrophy and white matter lesions (WML) with cognitive functioning in 605 patients (mean age, 58 ± 10; 76% men) with atherosclerotic disease from the Second Manifestations of ARTerial disease-MR substudy (SMART-MR study). Automated brain segmentation was used to quantify volumes of brain tissue, cerebrospinal fluid, and WML on MRI. Total brain, ventricular, and cortical gray matter volume were divided by intracranial volume (ICV). Neuropsychological tests assessing executive functioning and memory performance were performed and composite scores were calculated. We observed that smaller total brain volume, larger ventricular volume, and smaller cortical gray matter volume (all as % of ICV) were associated with worse executive performance and that this association became stronger with presence of brain infarcts or severe WML volume (P-values for interaction <0.05). No interaction between measures of brain volume and cerebrovascular pathology on memory performance was observed. Our findings suggest that patients with cerebrovascular pathology on MRI may be more vulnerable to impairment in executive functioning related to global as well as focal brain atrophy.