Report of two patients and further characterization of interstitial 9p13 deletion-A rare but recurrent microdeletion syndrome?

To date, an interstitial deletion of 9p13 has been described only two times in the medical literature. These reports were based on routine chromosomal analysis. We report on two additional patients with an interstitial deletion of 9p13 further defined on array CGH who share clinical features with the other two patients previously described. Our first patient is a 16-year-old girl with a 5.9?Mb deletion at 9p13.3-9p13.1, initially detected on routine karyotype analysis and further characterized on array CGH. Our second patient is a 7?-year-old boy with a 4.8?Mb deletion also at 9p13.3-9p13.1. Patients with 9p13 deletion appear to have mild to moderate developmental delay, social and interactive personality, behavior issues such as attention deficit-hyperactivity disorder, short stature, prominent antihelices, hypoplastic nails, and precocious/early puberty. Our 16-year-old patient is the oldest patient described thus far. This report further characterizes this condition and helps to delineate the long-term prognosis in these patients. ? 2012 Wiley Periodicals, Inc.     

Prevalence and risk factors of sleep bruxism and wake-time tooth clenching in a 7- to 17-yr-old population

Carra MC, Huynh N, Morton P, Rompré PH, Papadakis A, Remise C, Lavigne GJ. Prevalence and risk factors of sleep bruxism and wake‐time tooth clenching in a 7‐ to 17‐yr‐old population.
Eur J Oral Sci 2011; 119: 386–394. © 2011 Eur J Oral Sci Sleep‐related bruxism (SB) and wake‐time tooth clenching (TC) have been associated with temporomandibular disorders (TMDs), headache, and sleep and behavioral complaints. This study aimed to assess the prevalence and risk factors of these signs and symptoms in a 7‐ to 17‐yr‐old population (n = 604) seeking orthodontic treatment. Data were collected by questionnaire and by a clinical examination assessing craniofacial morphology and dental status. Sleep‐related bruxism was reported by 15% of the population and TC was reported by 12.4%. The SB group (n = 58) was mainly composed of children (67.3% were ≤12 yr of age) and the TC group (n = 42) was mainly composed of adolescents (78.6% were ≥13 yr of age). The craniofacial morphology of over 60% of SB subjects was dental class II and 28.1% were a brachyfacial type. Compared with controls (n = 220), SB subjects were more at risk of experiencing jaw muscle fatigue [adjusted OR (AOR) = 10.5], headache (AOR = 4.3), and loud breathing during sleep (AOR = 3.1). Compared with controls, TC subjects reported more temporomandibular joint clicking (AOR = 5), jaw muscle fatigue (AOR = 13.5), and several sleep and behavioral complaints. Sleep‐ and wake‐time parafunctions are frequently associated with signs and symptoms suggestive of TMDs, and with sleep and behavioral problems. Their clinical assessment during the planning of orthodontic treatment is recommended.     

Prevention of sexually transmitted human immunodeficiency virus (HIV) infection in adolescents

Sexual behavior can threaten the physical and social well-being of young people in the United States in a variety of ways, as it can put them at risk for infection with the human immunodeficiency virus (HIV), other sexually-transmitted diseases (STDs) and unintended pregnancy. This review describes the current extent of HIV infection in American adolescents, identifies and characterizes particular high-risk groups and risk-bearing and protective behaviors, and identifies barriers to adopting preventive behaviors and using health care services. Our main focus is to present findings from intervention research; we summarize the effects of strategies that operate at the individual level (i.e. biomedical or behavioral, in and outside of the clinic) and environmental level (i.e. family, school and community behavioral) to influence behavioral change and the prevention of HIV infection. Overall, even though abstinence eliminates the risk altogether and the use of condoms can effectively reduce the risk of sexual transmission of HIV, adolescents do not optimally employ these practices. Various approaches to counseling by providers and other behavioral interventions aimed at reducing high-risk sexual behavior have been effective, but have met with limited and short-lived success. Among the areas receiving inadequate attention to date have been the link between biomedical and community-based behavior change interventions and the correspondence of biologic and behavioral outcomes. These areas are explored and directions for future research are suggested.     

Multivalent dendrimeric and monomeric adenosine agonists attenuate cell death in HL-1 mouse cardiomyocytes expressing the A3 receptor

Multivalent dendrimeric conjugates of GPCR ligands may have increased potency or selectivity in comparison to monomeric ligands, a phenomenon that was tested in a model of cytoprotection in mouse HL-1 cardiomyocytes. Quantitative RT-PCR indicated high expression levels of endogenous A₁ and A_2A adenosine receptors (ARs), but not of A_2B and A₃ARs. Activation of the heterologously expressed human A₃AR in HL-1 cells by AR agonists significantly attenuated cell damage following 4 h exposure to H₂O₂ (750 μM) but not in untransfected cells. The A₃ agonist IB-MECA (EC₅₀ 3.8 μM) and the non-selective agonist NECA (EC₅₀ 3.9 μM) protected A₃ AR-transfected cells against H₂O₂ in a concentration-dependent manner, as determined by lactate dehydrogenase release. A generation 5.5 PAMAM (polyamidoamine) dendrimeric conjugate of a N⁶-chain-functionalized adenosine agonist was synthesized and its mass indicated an average of 60 amide-linked nucleoside moieties out of 256 theoretical attachment sites. It non-selectively activated the A₃AR to inhibit forskolin-stimulated cAMP formation (IC₅₀ 66 nM) and, similarly, protected A₃-transfected HL-1 cells from apoptosis-inducing H₂O₂ with greater potency (IC₅₀ 35 nM) than monomeric nucleosides. Thus, a PAMAM conjugate retained AR binding affinity and displayed greatly enhanced cardioprotective potency.     

Temporal arteritis: report of a case

Temporal arteritis is a rheumatic disease that affects large and medium-sized arteries. It is a severe arteritis involving both the intima and media of the vessel and is a cause of headache that is frequently diagnosed erroneously as "atypical migraine." The patients have a burning or throbbing type of pain. Ultimately, there is localized inflammation or cellulitis over the swollen, tortuous artery. Jaw claudication, eye pain, photophobia, diplopia, and even blindness may accompany the temporal symptoms. As many as 20% to 60% of inadequately treated or untreated patients will lose their vision. Blindness may or may not be preceded by visual symptoms and funduscopic changes. A variety of systemic symptoms are also often present, including nausea, vomiting, chills, dizziness, and loss of weight. Temporal arteritis is not a common diagnosis in maxillofacial practice. We are presenting a case of temporal arteritis diagnosed after a biopsy. The patient eventually lost the vision from one eye.