Miracle-dz/UniFAR-FTUs huggingface dataset:
Acute lymphoblastic leukemia in Weaver syndrome

Weaver syndrome comprises pre‐ and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance and developmental delay; it is a generally sporadic disorder, although autosomal dominant inheritance has been reported. Some of the manifestations characterize both the Weaver and Sotos syndrome, and distinction between the two is mainly by clinical examination and molecular testing. Most of the patients with Sotos syndrome have NSD1 gene deletions or mutations; however, the molecular basis of most of the Weaver syndrome patients is unknown. Patients with overgrowth syndromes have an increased frequency of tumors; the risk in Sotos syndrome patients has been estimated to be about 2–3%, with leukemia and lymphoma accounting for 44% of the malignancies. We report on a $4{\raise0.5ex\hbox{$\scriptstyle 1$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle 2$}}$‐year‐old girl with typical Weaver syndrome who developed acute lymphoblastic leukemia, an association not previously reported, and review the reported cases of Weaver syndrome patients who developed malignancies. Malignancy in Weaver syndrome has been reported previously in six patients. While searching the literature for all reported cases with Weaver syndrome and counting the cases with malignancy, we found that the frequency of tumors or hematologic malignancy was 10.9%. This is likely to be an overestimate, biased by failure to report cases without tumors and by over‐reporting cases with this rare association. While the presence of acute lymphoblastic leukemia in our patient might be incidental, we cannot exclude a possible causative association between Weaver syndrome and hematologic malignancy. © 2010 Wiley‐Liss, Inc.
Cytogenetic and array‐CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers–Danlos syndrome

Cytogenetic and Array-CGH Characterization of a 6q27 Deletion in a Patient With Developmental Delay and Features of Ehlers–Danlos Syndrome A.L. Mosca,* P. Callier, A. Masurel-Paulet, C. Thauvin-Robinet, N. Marle, M. Nouchy, F. Huet, D. Dipanda, A. De Paepe, P. Coucke, F. Mugneret, and L. Faivre D epartement de G en etique, CHU le Bocage, Dijon, France Laboratoire Pasteur Cerba, Val-d’Oise, France Service de R e education et de R eadaptation, CHU le Bocage, Dijon, France Center for Medical Genetics, Medical Research Building, Ghent, Belgium
BACTERIOLOGICAL PROFILE AND ANTIBIOGRAM OF GRAM NEGATIVE ORGANISMS ISOLATED FROM MEDICAL AND NEUROLOGY INTENSIVE CARE UNIT WITH SPECIAL REFERENCE TO MULTI-DRUG RESISTANT ORGANISMS

Introduction: Microbiological infection plays vital role in determining the outcome as well as cost and duration of the hospital stay for patients admitted in ICU setup. Therefore regular surveillance of important pathogens and its resistance pattern is mandatory. Objectives: The objective of this study was to find out the organisms causes infection in patients admitted in ICUs and to know resistance pattern of isolates. Material & Method: During the period from January 2012 to June 2012, total of 583 samples (blood, respiratory tract, urine etc.) from patients admitted in medical and Neuro-ICUs were collected and processed for culture, identification and antibiotic susceptibility testing according to CLSI recommendations. The medical and microbiological information were recorded from all patients whose samples were collected. Results: Out of 583, 228 (39.10%) samples were culture positive. The number of Gram-negative and Gram-positive organisms isolated were 182 (79.82%) and 46 (20.18%) respectively. The most frequent Gram-negative organisms isolated were Pseudomonas spp. 53/182 (29.12%) followed by Acinetobacter spp. 45 (24.72%), Klebsiella spp. 42 (28.08%), Escherichia coli 35 (19.23%) and others 7 (3.85%). Out of 98, 8 (8.16%) of isolates of pseudomonas spp. and Acinetobacter spp. were carbapenem resistance. Extended-spectrum β-lactamase (ESBL) production was detected in 33/84 (39.28%) of Enterobacteriaceae. Conclusion: This report reveals the Microbiology profile in patients in ICUs. Regular microbiological surveillance help in implementing better therapeutic strategies to reduce the high morbidity and mortality associated among the patients in critical care setting
Effect of resistance training on serum interleukin-18 and C-reactive protein in obese men.

Background and Objective: Previous studies have reported inconsistent findings about the effect of endurance training on level of interleukin-18 (IL-18) and high-sensitivity C-reactive protein (hsCRP) in obese individuals. This study was performed to determine the effect of resistance training on serum level of IL-18 and hsCRP in obese men. Materials and Methods: In this clinical trial, eighteen obese men were randomly divided into training and control groups. After 12-hours fasting, height, weight, body mass index, body fat percent, serum level of IL-18 and hsCRP were assessed before and after training period. Resistance training protocol consisted of twelve weeks training, 3 sessions training per week, each session for 60 minutes. Results: Mean±SD of IL-18 were 323.34±46.57 pg/ml and 239.43±53.75 pg/ml in training and control groups, respectively. Mean±SD of hsCRP was 3.83±3.65 μg/ml and 3.03±2.98 μg/ml in training and control groups, respectively. This difference was not significant. Conclusion: Performing resistance training for twelve weeks did not significantly reduce IL-18 and hsCRP in obese men.
Further delineation of the Kapur–Toriello syndrome

The Kapur–Toriello syndrome (KTS) is a rare multiple congenital anomaly syndrome, with presumed autosomal recessive inheritance based on the initial report of affected siblings. Here we report on a female with multiple anomalies, including cleft lip and palate, coloboma, mental retardation with cerebral atrophy, and imperforate anus who, upon re‐evaluation at 30 months, was recognized to have a columella that extended below the nares. This distinctive finding prompted the diagnosis of KTS. This is the 5th report of KTS, and the second female. Interestingly, both female cases also manifest an ano/rectal malformation, suggesting that this should be considered a component manifestation of this rare syndrome. © 2010 Wiley‐Liss, Inc.
Associação entre a infecção pelo Papilomavírus humano (HPV) e outras infecções genitais

Normal 0 21 false false false MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Tabela normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin:0cm; mso-para-margin-bottom:. 0001pt; mso-pagination:widow-orphan; font-size:10.0pt; font-family:"Times New Roman"; mso-ansi-language:#0400; mso-fareast-language:#0400; mso-bidi-language:#0400;} To evaluate the association between HPV infection and other genital infections were studied 80 patients submitted to gynecological examination with colposcopy, biopsy of the cervix and hybrid capture. There was reduction in viral load of HPV after treatment cervical, or in lesions of low or high grade (p = 0.02). Moreover, genital infections (bacterial vaginosis and candidiasis) were more common in patients with the hybrid capture HPV identified.
Stainless steel crown versus modified open-sandwich restorations for primary molars: a 2-year randomized clinical trial.

OBJECTIVE The aim of this study was to investigate the clinical performance and survival of stainless steel crown (SSC) restoration and modified open-sandwich technique using resin-modified glass ionomer cement. DESIGN Randomized clinical trial. SETTING General dental practice. MATERIALS AND METHODS A total of 87 children aged 4-7 years at baseline with one or more primary molars that have undergone pulp therapy were randomly assigned to receive either SSC or modified open-sandwich restoration. One hundred and sixty restorations were placed and evaluated after 6, 12, 18, and 24 months using the Ryge criteria. RESULTS Comparable survival rates were observed for both SSC and modified open-sandwich restoration. With only four SSCs and six modified open-sandwich restorations failing over 24 months, the survival rates were high for both materials (2-year survival rate: 95.0% for SSCs and 92.5% for modified open-sandwich restorations). Significantly better gingival health (P < 0.05) was observed for the modified open-sandwich restorations compared with SSCs, as only one modified open-sandwich restoration was rated Charlie compared to 13 SSCs. No significant differences were observed between the two materials for marginal integrity, proximal contact, occlusion, or recurrent caries. CONCLUSION The 2-year results indicated that the modified open-sandwich restoration is an appropriate alternative to SSC in extensive restorations, particularly where aesthetic considerations are important.
Morphological aspects of dental hard tissues in primary teeth from preterm infants.

BACKGROUND Preterm children with very low birth weight suffer from several neonatal and post-natal complications that may affect the mineralization of the teeth. Clinical studies have shown enamel aberrations in both dentitions. AIMS The aims of this study were to describe enamel histo-morphology in primary teeth, and investigate the relationship between medical history and morphological appearance. DESIGN Dental enamels in 44 exfoliated primary teeth, from 14 children with a gestational age below 29 weeks and with a very low birth weight, were investigated, using polarized light microscopy (POLMI) and under a scanning electron microscope (SEM). RESULTS The neonatal line was found in 1/3 of the sections located coronally of the crown. In the post-natal enamel, 31 teeth showed a degree of porosity higher than 5% with a varying extension. More than half of the teeth showed one or more increment lines. The SEM analysis confirmed the POLMI findings with irregular prisms covered with a structure-less film. CONCLUSIONS Enamel from primary teeth of preterm children was found to have a high frequency of mineralization disturbances found in POLMI and SEM. The morphological features of the enamel from preterm children do not reflect the disturbances on general growth and development occurred during the neonatal period.
Oral-health-related quality of life among children with and without dental fear.

OBJECTIVES This study aims to determine whether the oral-health-related quality of life (ORHQoL) and its dimensions differed among children with and without dental fear when different characteristics of fear were measured. MATERIAL AND METHODS The participants were 11- to 14-year-old Finnish child volunteers from the Oulu University Hospital cleft lip and/or palate (CLP) treatment register (n = 51) and schoolchildren (n = 82). Dental fear was measured with 'Treatment of dental decay' and 'Attending dentist' dimensions of the modified Children's Fear Survey Schedule-Dental Subscale and a single question. ORHQoL was measured with CPQ(11-14). Background variables were gender and the dental care experienced. RESULTS The response rates were 87% and 51% in the schoolchildren's and CLP groups, respectively. Those who were afraid of 'Treatment of dental decay' had higher mean CPQ(11-14 )total scores (33.2) and higher scores for social (8.8) and emotional well-being (9.0) than those who were not fearful (24.0, 6.2, and 5.8, respectively, P < 0.05), indicating poorer ORHQoL. Among those with experience of orthodontics, the association between dental fear and social and emotional well-being was weaker than among those with no experience of orthodontics. CONCLUSION Dental fear may have a negative effect on a child's ORHQoL, especially on social and emotional well-being. Positive minor treatment experiences might weaken this effect.
Overexpression of Hyaluronan-binding Protein 1 (HABP1/p32/gC1qR) in HepG2 Cells Leads to Increased Hyaluronan Synthesis and Cell Proliferation by Up-regulation of Cyclin D1 in AKT-dependent Pathway*

Background: Hyaluronan (HA) levels regulate cell behavior, tumor invasion, and migration through interactions with hyaladherins. Results: Elevated expression of hyaluronan-binding protein 1 (HABP1) leads to enhanced HA synthesis, HA cable formation, and activation of cell survival pathways in HepG2 cells. Conclusion: Constitutively elevated expression of HABP1 leads to enhanced tumorigenic potential by HA-mediated pathways. Significance: HABP1 modulates cell survival through enhanced HA synthesis. Overexpression of the mature form of hyaluronan-binding protein 1 (HABP1/gC1qR/p32), a ubiquitous multifunctional protein involved in cellular signaling, in normal murine fibroblast cells leads to enhanced generation of reactive oxygen species (ROS), mitochondrial dysfunction, and ultimately apoptosis with the release of cytochrome c. In the present study, human liver cancer cell line HepG2, having high intracellular antioxidant levels was chosen for stable overexpression of HABP1. The stable transformant of HepG2, overexpressing HABP1 does not lead to ROS generation, cellular stress, and apoptosis, rather it induced enhanced cell growth and proliferation over longer periods. Phenotypic changes in the stable transformant were associated with the increased “HA pool,” formation of the “HA cable” structure, up-regulation of HA synthase-2, and CD44, a receptor for HA. Enhanced cell survival was further supported by activation of MAP kinase and AKT-mediated cell survival pathways, which leads to an increase in CYCLIN D1 promoter activity. Compared with its parent counterpart HepG2, the stable transformant showed enhanced tumorigenicity as evident by its sustained growth in low serum conditions, formation of the HA cable structure, increased anchorage-independent growth, and cell-cell adhesion. This study suggests that overexpression of HABP1 in HepG2 cells leads to enhanced cell survival and tumorigenicity by activating HA-mediated cell survival pathways.
The right to ignore genetic status of late onset genetic disease in the genomic era; Prenatal testing for Huntington disease as a paradigm

During the last decade, the field of human genome research has gone through a phase of rapid discovery that has provided scientists and physicians with a wide variety of research tools that are applicable to important medical issues. We describe a true case of familial Huntington disease (HD) in which we modified personal details to protect patient's privacy, where the proband at risk preferred not to know his disease status but wanted to know the status in his unborn child. Once we found the father to be negative, the case raised an important ethical question regarding the management of this as well as future pregnancies. This article discusses the arguments for and against the right not to know of one's carrier status, as well as professional obligations in the context of withholding unwanted information that may have direct implications not only for the patient himself but also for other family members. HD has served as a model for many other adult onset genetic diseases in terms of carrier testing guidelines. Hence, we feel it is time to revisit the issue of prenatal testing for HD and consider updating the current recommendations regarding the patient's right to “genetic ignorance”, or the right not to know genetic information. © 2010 Wiley‐Liss, Inc.
Fructose Protects Murine Hepatocytes from Tumor Necrosis Factor-induced Apoptosis by Modulating JNK Signaling*

Background: Fructose-induced ATP depletion selectively protects hepatocytes but not hepatoma cell lines from actinomycin D (ActD)/TNF-induced apoptosis. Results: Fructose induces a cAMP response that via PKA prevents sustained activation of ActD/TNF-induced pro-apoptotic JNK activation, thereby Bid cleavage and apoptosis. Conclusion: These findings explain the hepatocytic mechanism of fructose-mediated cytoprotection against ActD/TNF-induced apoptosis. Significance: These findings explain selective cytoprotection of hepatocytes, potentially enabling selective tumor targeting. Fructose-induced hepatic ATP depletion prevents TNF-induced apoptosis, whereas it contrarily enhances CD95-induced hepatocyte apoptosis in vitro and in vivo. By contrast, transformed liver cells are not protected against TNF due to metabolic alterations, allowing selective tumor targeting. We analyzed the molecular mechanisms by which fructose modulates cytokine-induced apoptosis. A release of adenosine after fructose-induced ATP depletion, followed by a cAMP response, was demonstrated. Likewise, cAMP and adenosine mimicked per se the modulation by fructose of CD95- and TNF-induced apoptosis. The effects of fructose on cytokine-induced apoptosis were sensitive to inhibition of protein kinase A. Fructose prevented the pro-apoptotic, sustained phase of TNF-induced JNK signaling and thereby blocked bid-mediated activation of the intrinsic mitochondrial apoptosis pathway in a PKA-dependent manner. We explain the dichotomal effects of fructose on CD95- and TNF-induced cell death by the selective requirement of JNK signaling for the latter. These findings provide a mechanistic rationale for the protection of hepatocytes from TNF-induced cell death by pharmacological doses of fructose.
Holoprosencephaly and genitourinary anomalies in fetal methotrexate syndrome

Prenatal exposure to methotrexate (MTX) in the first trimester may lead to fetal death, and surviving children have increased risks for cranial dysostosis, dysmorphic facies, skeletal malformations, limb defects, growth retardation, and, in some cases, developmental delay, a pattern of defects recognized as fetal MTX syndrome (FMS). We report on a male infant who, in addition to severe FMS, showed previously undescribed central nervous system (CNS) and genitourinary anomalies that contributed to the further delineation. The propositus was born to a G2, 20‐year‐old mother with an irregular menstrual history. The unplanned pregnancy was complicated by oral MTX treatment (5 mg/day) for suspected systemic lupus erythematosus for 14 days at the 5th week post‐conception, as dated by the first trimester sonogram. In addition to the typical features of the FMS, our propositus exhibited congenital penile curvature, vesicoureteral reflux, hydronephrosis, and severe CNS anomalies including semilobar holoprosencephaly (HPE). A single previous report of lobar‐type HPE in an infant with FMS led us to confirm that the HPE observed in the propositus is a feature attributable to MTX teratogenicity, although the exact mechanisms of the HPE production need to be further elucidated. Also, this case serves to highlight the presence of genitourinary anomalies in patients with FMS, a fact that requires intentional searches in future patients in order to confirm this as being characteristic of the entity. © 2010 Wiley‐Liss, Inc.
Enteric Commensal Bacteria Induce Extracellular Signal-regulated Kinase Pathway Signaling via Formyl Peptide Receptor-dependent Redox Modulation of Dual Specific Phosphatase 3*

The normal microbial occupants of the mammalian intestine are crucial for maintaining gut homeostasis, yet the mechanisms by which intestinal cells perceive and respond to the microbiota are largely unknown. Intestinal epithelial contact with commensal bacteria and/or their products has been shown to activate noninflammatory signaling pathways, such as extracellular signal-related kinase (ERK), thus influencing homeostatic processes. We previously demonstrated that commensal bacteria stimulate ERK pathway activity via interaction with formyl peptide receptors (FPRs). In the current study, we expand on these findings and show that commensal bacteria initiate ERK signaling through rapid FPR-dependent reactive oxygen species (ROS) generation and subsequent modulation of MAP kinase phosphatase redox status. ROS generation induced by the commensal bacteria Lactobacillus rhamnosus GG and the FPR peptide ligand, N-formyl-Met-Leu-Phe, was abolished in the presence of selective inhibitors for G protein-coupled signaling and FPR ligand interaction. In addition, pretreatment of cells with inhibitors of ROS generation attenuated commensal bacteria-induced ERK signaling, indicating that ROS generation is required for ERK pathway activation. Bacterial colonization also led to oxidative inactivation of the redox-sensitive and ERK-specific phosphatase, DUSP3/VHR, and consequent stimulation of ERK pathway signaling. Together, these data demonstrate that commensal bacteria and their products activate ROS signaling in an FPR-dependent manner and define a mechanism by which cellular ROS influences the ERK pathway through a redox-sensitive regulatory circuit.
Factors increasing the caries risk of second primary molars in 5-year-old Dutch children.

BACKGROUND Caries is still a prevalent condition in 5-year-old children. At present, knowledge regarding some aetiological factors, like deciduous molar hypomineralization (DMH), is limited. AIM To investigate aetiological factors both directly and indirectly associated with caries in second primary molars. DESIGN Of 974 children invited to participate in the study, 386 children were examined clinically with visual detection of caries. Only carious lesions determined to have reached the dentine were recorded. Information about tooth brushing frequency, education level of the mother, and country of birth of mother and child, was collected by means of a multiple-choice questionnaire. Parents of 452 children filled in the questionnaire. Complete clinical and questionnaire data were available for 242 children. Statistical analysis of the effect of the independent variables was undertaken using the Pearson's chi-squared test. RESULTS Deciduous molar hypomineralization (P = 0.02) and the country of birth of the mother (P < 0.001) were positively associated with caries prevalence. CONCLUSIONS Deciduous molar hypomineralization and the country of birth of the mother play a role in the prevalence of dental caries. These aetiological factors associated with childhood dental caries need to be investigated further in longitudinal clinical trials.
Communication Skills Training for Physicians as a Strategy for Enhancing Patients’ Satisfaction: A Model for Continuing Education

Introduction. The quality of doctor-patient relationship has a significant impact on patient satisfaction and medical outcomes. Communication skills training is not formally included in medical education curriculum in Iran and as a result physicians can not communicate properly with their patients and need to receive training in this regard. In this study a communication skills training program for general practitioners was designed and its effect on their patients’ satisfaction was evaluated. Methods. In a quasi- experimental two group post-test design study, a communication skills training program was designed and implemented as a three days workshop. The study sample included 32 employed physicians (16 physicians in each experimental and control groups) and 153 patients (72 patients in experimental group and 81 in control group). The physicians in the experimental group participated in the workshop and received training using new instructional methods combined with routine communication skills teaching methods. A valid and reliable questionnaire was used to measure patients’ satisfaction. Then, patients’ satisfaction from trained physicians was compared with the satisfaction in the control group by t-test using SPSS software. Results. The mean score of patients’ satisfaction from trained physicians was 86.2 with the standard deviation of 10.3 which was significantly higher than the mean score for control group (81.5±9.58). Patients’ satisfaction from their physicians’ general communication skills, at the beginning and end of session was greater for trained physicians compared with the ones who didn’t receive any training. Conclusion. Since, communication skills training for general practitioners increased patients’ satisfaction, and considering the fact that this kind of training is not included in medical education curriculum, it is recommended to consider it as an efficient and useful component in continuing medical education programs as well as undergraduate medical education.