1,024 research outputs found
A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency
3-hydroxy-3-methylglutaryl-coenzyme A (HMG CoA) lyase deficiency is an inborn error of metabolism characterized by impairment of ketogenesis and leucine catabolism resulting in an organic acidopathy. In 1994, a case of dilated cardiomyopathy and fatal arrhythmia was reported in a 7-month-old infant. We report a case of dilated cardiomyopathy in association with HMG CoA lyase deficiency in a 23-year-old man with the acute presentation of heart failure. To our knowledge, this is the first case reported in an adult
Ordering dynamics of the driven lattice gas model
The evolution of a two-dimensional driven lattice-gas model is studied on an
L_x X L_y lattice. Scaling arguments and extensive numerical simulations are
used to show that starting from random initial configuration the model evolves
via two stages: (a) an early stage in which alternating stripes of particles
and vacancies are formed along the direction y of the driving field, and (b) a
stripe coarsening stage, in which the number of stripes is reduced and their
average width increases. The number of stripes formed at the end of the first
stage is shown to be a function of L_x/L_y^\phi, with \phi ~ 0.2. Thus,
depending on this parameter, the resulting state could be either single or
multi striped. In the second, stripe coarsening stage, the coarsening time is
found to be proportional to L_y, becoming infinitely long in the thermodynamic
limit. This implies that the multi striped state is thermodynamically stable.
The results put previous studies of the model in a more general framework
Neonatal Lupus Erythematosus
Neonatal lupus erythematosus (NLE) refers to a clinical spectrum of cutaneous, cardiac, and systemic abnormalities observed in newborn infants whose mothers have autoantibodies against Ro/SSA and La/SSB. The condition is rare and usually benign and self-limited but sometimes may be associated with serious sequelae. We review the pathophysiology, clinical features, and management of infants with this condition. Neonates with NLE should be managed at a tertiary care center. Multidisciplinary team involvement may also be indicated. In mothers with anti-Ro/SSA and/or anti-La/SSB antibodies and infants with congenital heart block, the risk of recurrence in subsequent offspring is 17–25%. Therefore, careful monitoring of subsequent pregnancies with serial ultrasonography and echocardiography is essential
Be Careful, Mom and Doc: Hepatotoxicity Associated with Prescribed Medications in Young Infants
Accidental poisonings in young infants are relatively uncommon, and the careless caregiver is usually the culprit. We report two cases of hepatotoxicity due to prescribed medications. An infant was given 15 mL instead of 1.5 mL of paracetamol by his mother because she omitted the decimal point on the label of the drug bottle. The infant became symptomatic, and liver enzyme and clotting profile were abnormal, necessitating treatment with N-acetyl cysteine. Another infant was prescribed oral ketoconazole for thrush, resulting in elevation of liver enzymes. The serum alanine aminotransferase levels were transiently elevated but returned to normal, and both infants recovered uneventfully. This report serves to alert the doctor to avoid using decimal points in drug labeling and to avoid prescribing excessive amount of drug for trivial acute illness. Thrush in infancy is common and usually treated with oral nystatin. Other oral antifungals such as ketoconazole may be associated with liver derangement and should be avoided in infants
Mongolian spot with involvement of the frontal area
Mongolian spots are congenital hyperpigmented macules of varying size and shape and are usually grayish in color. They occurcommonly in the sacrococcygeal area, followed by the gluteal and lumbar areas. We report a Chinese infant with a Mongolian spotin the frontal area; the occurrence of a Mongolian spot in this location is considered exceptional. Awareness of such an occurrence isimportant, and hence that a false accusation of child abuse is not made
Coarsening Dynamics of a One-Dimensional Driven Cahn-Hilliard System
We study the one-dimensional Cahn-Hilliard equation with an additional
driving term representing, say, the effect of gravity. We find that the driving
field has an asymmetric effect on the solution for a single stationary
domain wall (or `kink'), the direction of the field determining whether the
analytic solutions found by Leung [J.Stat.Phys.{\bf 61}, 345 (1990)] are
unique. The dynamics of a kink-antikink pair (`bubble') is then studied. The
behaviour of a bubble is dependent on the relative sizes of a characteristic
length scale , where is the driving field, and the separation, ,
of the interfaces. For the velocities of the interfaces are
negligible, while in the opposite limit a travelling-wave solution is found
with a velocity . For this latter case () a set of
reduced equations, describing the evolution of the domain lengths, is obtained
for a system with a large number of interfaces, and implies a characteristic
length scale growing as . Numerical results for the domain-size
distribution and structure factor confirm this behavior, and show that the
system exhibits dynamical scaling from very early times.Comment: 20 pages, revtex, 10 figures, submitted to Phys. Rev.
New Concepts in Median Nail Dystrophy, Onychomycosis, and Hand, Foot, and Mouth Disease Nail Pathology
Nails are underutilized as diagnostic tools, despite being involved in many dermatologic conditions. This paper explores new concepts in the treatment of median nail dystrophy (MND), onychomycosis, and the nail pathology of hand, foot, and mouth disease (HFMD). A Pubmed database literature search was conducted for MND treatment, onychomycosis treatment, and HFMD nail pathology. Only papers published after January 2008 were reviewed. The results showed that 0.1% tacrolimus ointment can be an effective treatment for MND. Early studies on laser therapy indicate that it is a safe and efficacious treatment option for onychomycosis, compared to conventional oral antifungal agents. Vicks VapoRub (The Proctor & Gamble Company, Cincinnati, OH) is effective against onychomycosis and is a reasonable option in patients who choose to forgo conventional treatments. Lastly, there is evidence to support a correlation between HFMD and onychomadesis
Clustering of childhood leukaemia in Hong Kong: association with the childhood peak and common acute lymphoblastic leukaemia and with population mixing.
Incidence data of childhood leukaemia (CL) in Hong Kong (1984-90) have been analysed for evidence of variation between small areas. All cases (n=261) were classified by morphological cell type, with the majority (n=205) being acute lymphoblastic leukaemia (ALL), and haematological review has permitted immunophenotypic classification for 73% of these. The data have been examined for evidence of spatial clustering within small census areas (TPUs) and for association with population mixing, with attention focused on those subgroups (especially the childhood peak of ALL--taken here to be diagnoses in children from 24 months up to the seventh birthday--and common ALL) which, it has been hypothesized, may be caused by unusual patterns of exposure and response to common infections. For the whole of Hong Kong, there was evidence of spatial clustering of ALL at ages 0-4 years (P = 0.09) and in the childhood peak (P<0.05). When these analyses were restricted to TPUs where extreme population mixing may have occurred, overall incidence was elevated and significant evidence of clustering was found for ALL (P<0.007) at these ages and for the common ALL in the childhood peak (P = 0.032). Replication of the analyses for subsets of leukaemia that were not dominated by the childhood peak of ALL found no evidence of clustering. This is the first investigation of an association between population mixing and childhood leukaemia in Asia and the first to include clustering and to consider particular subsets. The results are supportive of the 'infectious' aetiology hypothesis for subsets of childhood leukaemia, specifically common ALL in the childhood peak
Topoisomerase II inhibitors induce DNA damage-dependent interferon responses circumventing Ebola virus immune evasion
Ebola virus (EBOV) protein VP35 inhibits production of interferon alpha/beta (IFN) by blocking RIG-I-like receptor signaling pathways, thereby promoting virus replication and pathogenesis. A high-throughput screening assay, developed to identify compounds that either inhibit or bypass VP35 IFN-antagonist function, identified five DNA intercalators as reproducible hits from a library of bioactive compounds. Four, including doxorubicin and daunorubicin, are anthracycline antibiotics that inhibit topoisomerase II and are used clinically as chemotherapeutic drugs. These compounds were demonstrated to induce IFN responses in an ATM kinase-dependent manner and to also trigger the DNA-sensing cGAS-STING pathway of IFN induction. These compounds also suppress EBOV replication in vitro and induce IFN in the presence of IFN-antagonist proteins from multiple negative-sense RNA viruses. These findings provide new insights into signaling pathways activated by important chemotherapy drugs and identify a novel therapeutic approach for IFN induction that may be exploited to inhibit RNA virus replication
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