Congenital epidermoid cysts over the anterior fontanelle

Epidermoid cysts over the anterior fontanelle were once regarded as rare and exclusive to blacks. The latest reports in the literature indicate a more widespread incidence. Only a few cases have been described in Europe. The authors report three cases of epidermoid cysts in this location occurring in Spaniards. Clinical, radiological, and surgical features are briefly discussed and pertinent literature is reviewed.     

Comparison of a repetitive extragenic palindromic sequence-based PCR method and clinical and microbiological methods for determining strain sources in cases of nosocomial Acinetobacter baumannii bacteremia

Using a repetitive extragenic palindromic PCR (REP-PCR), we genotypically characterized strains causing nosocomial Acinetobacter baumannii infections and analyzed the source of bacteremia in 67 patients from an institution in which infections by this bacterium were endemic. Six different genotypes were found, including 21, 27, 3, 9, 3, and 4 strains. The probable source of bacteremia, according to clinical and/or microbiological criteria, was known in 42 patients (63%): respiratory tract (n = 19), surgical sites (n = 12), intravascular catheters (n = 5), burns (n = 3), and urinary tract (n = 3). The definite source of bacteremia, according to REP-PCR, could be established in 30 (71%) out of the 42 patients with strains from blood and other sites; in these cases clinical and microbiological criteria for the source of bacteremia were thus confirmed. In the remaining 12 patients (29%) the probable source was refuted by the REP-PCR method. The definite sources of bacteremia according to genotype were as follows: respiratory tract in 13 patients (31%), surgical sites in 8 (19%), intravascular catheters in 4 (9%), burns in 3 (7%), and urinary tract in 2 (5%). A comparison of strains from blood cultures and other sites with regard to their REP-PCR and antimicrobial resistance profiles was also made. Taking the REP-PCR as the "gold standard," the positive predictive value of antibiotype was 77% and the negative predictive value was 42%. In summary, the utility of the diagnosis of the source of nosocomial A. baumannii bacteremia using clinical and/or microbiological criteria, including antibiotyping, is limited, as demonstrated by REP-PCR.     

Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF)

Inherited hearing impairment affects one in 2,000 newborns. Nonsyndromic prelingual forms are inherited mainly as autosomal recessive traits, for which 16 genes are currently known. Mutations in the genes encoding connexins 26 and 30 account for up to 50% of these cases. However, the individual contribution of the remaining genes to the whole remains undetermined. In addition, for most of the genes there is a need for studies on genotype-phenotype correlations, to identify distinctive clinical features which may direct the molecular diagnosis to specific genes. Here we present a mutation analysis and a genotype-phenotype correlation study on the gene encoding otoferlin (OTOF), responsible for the DFNB9 subtype of prelingual hearing impairment. Four novel mutations were identified: c.2122C>T (p.Arg708Ter), c.4275G>A (p.Trp1425Ter), c.4362+2T>G, and c.5860_5862delATC (p.Ile1954del). A total of 37 subjects with mutations in OTOF were studied clinically. They were phenotypically homogeneous, having profound hearing impairment with very early onset, as shown by pure-tone audiometry and auditory brainstem responses. Magnetic resonance imaging and computed tomography did not reveal any inner ear malformation. Unexpectedly, transient evoked otoacoustic emissions (TEOAEs) were present, either bilaterally or unilaterally in 11 subjects. Altogether, clinical data of these subjects met the diagnostic criteria of auditory neuropathy. A total of 10 subjects had been successfully provided with cochlear implants. The results of our study indicate that genetic diagnosis of subjects with auditory neuropathy and profound hearing impairment should be directed to the otoferlin gene. Our data are of concern to universal screening programs which use TEOAEs as the first detection test for hearing impairment in newborns, since this technique may overlook a nonnegligible proportion of cases.     

Differing effects of T4 DNA ligase in the modulation of the damage induced in mammalian cells by either X-rays or restriction endonucleases

BACKGROUND: Of the different lesions induced by X-rays, DNA double-strand breaks (DSBs) are considered the main cause of chromosomal aberrations and cell death. Restriction endonucleases (REs) induce only DNA DSBs and have frequently been used to mimic the effects of ionizing radiation in the study of DNA damage and repair. METHODS: The present work makes use of clonogenic and cytogenetic assays to study the effect of T4 DNA ligase on modulating the damage induced by either X-rays or an RE (MspI) that produces breaks with cohesive ends. A CHO cell line defective in ligase III activity (EM9) and its corresponding parental line (AA8) were used. RESULTS: Our results show that T4 DNA ligase increased cell survival and decreased chromosomal aberrations in cells treated with MspI, suggesting that most RE-induced DSBs can be repaired by a simple ligation. This enzyme was, however, unable to promote repair of the DNA damage induced by X-rays. Analysis of the ratios of exchange-type aberrations to chromatid break-type aberrations indicated that T4 ligase increased misrejoining of the DNA damage induced by X-rays. The results were similar in EM9 and AA8 cells, although the effect was greater in the cells deficient in DNA strand break rejoining. In addition, depending on whether the end strand break structure is 3'-hydroxyl and 5'-phosphoryl (REs) or more complex (X-rays), T4 DNA ligase could either promote the correct repair or, conversely, increase misrejoining. CONCLUSION: The present results confirm the idea that DNA DSBs induced by cohesive cutting RE are repaired by different mechanisms than those induced by X-rays causing cell lethality.     

Macroanatomy and Microanatomy of the Temporal Lobe

Because of its different functions and organization, the temporal lobe may be divided into lateral and medial parts. This separation may be useful for teaching purposes, since the medial temporal lobe needs a separated and a more precise study because of its complex structure and because it is the substrate where some specific types of epilepsy originate. The use of certain magnetic resonance imaging (MRI) sequences and protocols has improved the diagnosis of some particular epilepsies, but this technical benefit must be accompanied by the accurate knowledge of the anatomy of the temporal lobe. With this purpose we have prepared this article, which highlights the ultastructural and macroanatomy of the temporal lobe seen on MRI.     

Cytokines (IL-15, IL-21, and IFN-γ) in rheumatoid arthritis: association with positivity to autoantibodies (RF,anti-CCP,anti-MCV,and anti-PADI4) and clinical activity

Clinical Rheumatology - Rheumatoid arthritis (RA) is an autoimmune disease characterized by synovial membrane damage and autoantibody production. RA is a heterogeneous disease, where cytokines such...     

A randomized trial of a screening, case finding, and referral system for older veterans in primary care

OBJECTIVES: To test whether a system of screening, assessment, referral, and follow-up provided within primary care for high-risk older outpatients improves recognition of geriatric conditions and healthcare outcomes. DESIGN: Controlled clinical trial with 3-year follow-up; intervention versus control group allocation based on practice group assignment. SETTING: Department of Veterans Affairs (VA) ambulatory care center. PARTICIPANTS: Seven hundred ninety-two community-dwelling patients aged 65 and older identified by postal screening survey. INTERVENTION: The intervention combined a structured telephone geriatric assessment by a physician assistant, individualized referrals and recommendations, selected referral to outpatient geriatric assessment, and ongoing telephone case management. MEASUREMENTS: Main outcomes were VA medical record evidence of recognition and evaluation of target geriatric conditions (depression, cognitive impairment, urinary incontinence, falls, functional impairment), functional status (Functional Status Questionnaire, FSQ), and hospitalization (VA databases and self-reported non-VA usage). RESULTS: Intervention participants were more likely to have target conditions recognized, evaluated, and referred to specialized services within 12 months of enrollment, although there were no significant differences in FSQ scores or acute hospitalization between intervention and control groups at 1, 2, or 3 years follow-up. Subgroup analyses suggested improvements in depression symptoms and functional impairment at 1-year follow-up in intervention participants with these problems at baseline, but these findings were not evident at later follow-up. CONCLUSION: The intervention increased recognition and evaluation of target geriatric conditions but did not improve functional status or decrease hospitalization. Innovative screening methods can identify older people in need of geriatric services, but achieving measurable improvement in functional status or hospitalization rates will likely require a more-intensive intervention than a program involving primarily unsolicited referrals and short-term consultations.     

Osteal complications as first manifestation in a patient with primary Sjögren's Syndrome and with associated distal tubular acidosis (type 1) and chronic renal insufficiency

Abstract: Renal affection is among the complications associated with the Sjögren's Syndrome. Tubulo‐interstitial nephritis constitutes the most frequent renal lesion and distal tubular acidosis (Type 1) is the most important clinical manifestation of this tubular dysfunction, although the occurrence of chronic renal insufficiency is not an uncommon finding in the presence of distal renal tubular acidosis. Osteomalacia is a clinical consequence of tubular acidosis caused by buffering of H⁺ in the bone. We present the case of a woman with osteal complication a year before being diagnosed with primary Sjögren's Syndrome and with distal tubular acidosis and renal insufficiency associated at diagnosis.