Wound and soft tissue infections of Serratia marcescens in patients receiving wound care: A health care-associated outbreak.

We described a health care-associated Serratia marcescens outbreak of wound and soft tissue infection lasting approximately 11 months at Ankara University Ibni Sina Hospital. After identification of S marcescens strains from the clinical and environmental samples, and their susceptibility testing to antimicrobial agents, pulsed-field gel electrophoresis (PFGE) was performed to detect molecular epidemiologic relationships among these isolates. The strains which were isolated from the saline bottles used for wound cleansing in the wound care unit were found to be 100% interrelated by PFGE to the strains from the samples of the outbreak patients. Reuse of the emptied bottles has no longer been allowed since the outbreak occurred. Besides, more efficient and frequent infection control training for hospital staff has been conducted.

Isolated sphenochoanal polyp: report of three cases.

BACKGROUND: Choanal polyps constitute 3-6 % of all nasal polyps and are lesions which usually originate from the mucosa of the maxillary sinus and have a solitary growth pattern. Polyps originating from the sphenoid sinus are rarely seen and are known as sphenochoanal polyps. Surgical treatment of the sphenochoanal polyps is its complete excision together with the pedicle and the portion inside the sphenoid sinus. CASES REPORT: We report the cases of three patients who were referred to the ENT outpatient department for a persistent unilateral nasal obstruction that was resistant to medical treatment. After their clinical and endoscopic examination and imaging evaluation, these patients underwent endoscopic excision of the sphenochoanal polyps which in histopathology were proven to be inflammatory polyps. CONCLUSION: Although rarely seen sphenochoanal polyps must be kept in mind in the differential diagnosis of unilateral sphenoid sinus and posterior nasal cavity masses. HIPPOKRATIA 2017, 21(3): 150-153.

Prognostic value of mean platelet volume on tinnitus.

OBJECTIVE: This study aimed to determine whether there was any relationship between tinnitus and mean platelet volume. METHODS: This retrospective study was conducted between January 2013 and January 2014 in Ankara Atatürk Hospital and Ondokuz Mayis University Hospital, Turkey, on a study group of 86 patients with tinnitus and a control group of 84 healthy subjects. Mean platelet volume was recorded and comparisons were made between the two groups. RESULTS: Mean (± standard deviation) platelet volume was 7.67 ± 0.83 µm(3) in the study group and 7.28 ± 0.56 µm(3) in the control group. There was a statistically significant difference in mean platelet volume between the tinnitus patients and the healthy subjects (p < 0.05). CONCLUSION: The clinical findings indicated that tinnitus patients had a higher mean platelet volume than the healthy control subjects; however, the pathophysiological mechanism remains unclear.

Topographic relationship; sinusitis and paranasal sinus computed tomography.

Topographic relationship; sinusitis and paranasal sinus computed tomography. BACKGROUND: The association between the symptoms of chronic rhinosinusitis (CRS) and computed tomography (CT) findings is controversial, especially the topography of the symptoms and CT findings. OBJECTIVE: To determine the relationship between topographic and overall paranasal CT findings with topographic and overall symptoms. METHODS: This was a two-center study comprising 166 patients diagnosed with chronic sinusitis. All patients underwent CT scans and completed a questionnaire. The symptom scores and CT findings were compared. RESULTS: A correlation between anterior ethmoid sinusitis and hyposmia was found. Blockage of the osteomeatal complex and posterior ethmoid sinusitis was associated with halitosis. There were also correlations between maxillary and sphenoid sinusitis and tooth pain. The total visual scale score was not associated with any of the symptoms. No association was seen between facial pain or facial pressure and paranasal sinus CT scores. No correlation was found between the topographic correlation of sinus pain and topographic paranasal sinus CT findings. CONCLUSIONS: No relationship exists between symptoms and paranasal sinus CT findings in patients with chronic rhinosinusitis.

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations.

BACKGROUND: Mutations in the POU3F4 gene cause X-linked deafness type 3 (DFN3), which is characterized by inner ear anomalies. METHODS: Three Turkish, one Ecuadorian, and one Nigerian families were included based on either inner ear anomalies detected in probands or X-linked family histories. Exome sequencing and/or Sanger sequencing were performed in order to identify the causative DNA variants in these families. RESULTS: Four novel, c.707A>C (p.(Glu236Ala)), c.772delG (p.(Glu258ArgfsX30)), c.902C>T (p.(Pro301Leu)), c.987T>C (p.(Ile308Thr)), and one previously reported mutation c.346delG (p.(Ala116ProfsX26)) in POU3F4, were identified. All mutations identified are predicted to affect the POU-specific or POU homeo domains of the protein and co-segregated with deafness in all families. CONCLUSIONS: Expanding the spectrum of POU3F4 mutations in different populations along with their associated phenotypes provides better understanding of their clinical importance and will be helpful in clinical evaluation and counseling of the affected individuals.

Exposure to mercury among dental health workers in Turkey: correlation with amalgam work and own fillings.

PURPOSE: To investigate the current status of exposure to mercury (Hg) among dental health workers in Turkey. METHODS: A total of 115 persons working in the same hospital were included in the study and were divided into three groups. Group 1 consisted of 67 dentists; group 2 consisted of 21 dental personnel who work with amalgam, and group 3 consisted of 27 control subjects who work in the same hospital but are non-dental personnel. The number of amalgam fillings that have been made by the dentists and the number of own fillings of the subjects were recorded. RESULTS: Plasma Hg levels were found to be 3.76 ± 1.84, 3.54 ± 1.83, and 2.69 ± 0.97 µg/L in groups 1, 2, and 3, respectively. Hg concentrations in group 1 were significantly higher than the control group. There was no significant difference between groups 1 and 2. The number of amalgam fillings made by the dentists in the previous year correlated significantly with plasma Hg levels (r = 0.378, p < 0.01). There was no significant correlation between the own amalgam fillings in the teeth of the subjects and Hg levels. CONCLUSION: Preventive measures for protection from exposure to Hg are necessary for occupational health in dentistry and proper industrial hygiene rules should be emphasized to avoid contamination during work.

Does the weather really affect epistaxis?

OBJECTIVES: The aim of this study was to determine the incidence and severity of epistaxis under different air conditions. METHODS: This prospective study of 310 patients was conducted between January 2010 and December 2010 in the Diyarbakir State Hospital. Epistaxis rates were examined in under conditions of mean temperature (MT; degrees Celsius), mean humidity (MH; (%), air pressure (AP; atmosphere bar), sunlight duration (SD; hours), rainfall (kg/m2), and wind speed (km/hour). RESULTS: A positive correlation between epistaxis rates and temperature was found, but the correlation between epistaxis rates and humidity, air pressure, and rainfall were negative. Additionally, no correlation was seen between epistaxis rates and either wind speed or sunlight duration. CONCLUSION: This clinical study provides evidence to support the idea that meteorological factors should be considered risk factors of epistaxis rates.

An amino acid deletion inSZT2 in a family with non-syndromic intellectual disability.

Autosomal recessive intellectual disability (ID) is characterized by extensive genetic heterogeneity. Recently, three mutations in SZT2 were reported in two unrelated children with unexplained infantile epileptic encephalopathy with severe ID. Here we report a European American family with three children having non-syndromic mild or moderate ID without seizures. Whole-exome sequencing of three affected siblings revealed a three base pair deletion (c.4202_4204delTTC) located in a 19 mb autozygous region on chromosome 1, leading to an amino acid deletion (p.Phe1401del) in SZT2. All three children were homozygous for the deletion and their parents were heterozygous as expected in autosomal recessive inheritance. SZT2 is highly expressed in neuronal tissues and regulates seizure threshold and neuronal excitation in mice. We conclude that the disruption of SZT2 with some residual function might lead to mild or moderate ID without seizures.

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

Hereditary hearing loss is characterized by a high degree of genetic heterogeneity. Here we present OTOGL mutations, a homozygous one base pair deletion (c.1430 delT) causing a frameshift (p.Val477Glufs(∗)25) in a large consanguineous family and two compound heterozygous mutations, c.547C>T (p.Arg183(∗)) and c.5238+5G>A, in a nonconsanguineous family with moderate nonsyndromic sensorineural hearing loss. OTOGL maps to the DFNB84 locus at 12q21.31 and encodes otogelin-like, which has structural similarities to the epithelial-secreted mucin protein family. We demonstrate that Otogl is expressed in the inner ear of vertebrates with a transcription level that is high in embryonic, lower in neonatal, and much lower in adult stages. Otogelin-like is localized to the acellular membranes of the cochlea and the vestibular system and to a variety of inner ear cells located underneath these membranes. Knocking down of otogl with morpholinos in zebrafish leads to sensorineural hearing loss and anatomical changes in the inner ear, supporting that otogelin-like is essential for normal inner ear function. We propose that OTOGL mutations affect the production and/or function of acellular structures of the inner ear, which ultimately leads to sensorineural hearing loss.

Randomized phase II trial of letrozole plus anti-MUC1 antibody AS1402 in hormone receptor-positive locally advanced or metastatic breast cancer.

PURPOSE: AS1402 is a humanized immunoglobulin G1 antibody that targets the aberrantly glycosylated antigen MUC1, which is overexpressed in 90% of breast tumors and contributes to estrogen-mediated growth and survival of breast cancer cells in vitro by modulating estrogen receptor (ER) activity. Aromatase inhibitors have been reported to enhance antibody-dependent cell-mediated cytotoxicity elicited by antibodies in vitro. We compared the outcomes of patients with breast cancer treated with letrozole with or without AS1402. EXPERIMENTAL DESIGN: The study population included 110 patients with locally advanced or metastatic hormone receptor-positive breast cancer randomized to receive 2.5 mg letrozole only once daily or with a weekly 9 mg/kg AS1402 infusion. The primary endpoint was overall response rate. Secondary endpoints included progression-free survival, time to progression, and safety. AS1402 exposure and influence of allotypes of FcγRIIIa, FcγRIIa, and MUC1 were evaluated. RESULTS: The study was stopped early because of a trend toward worse response rates and a higher rate of early disease progression in the AS1402 + letrozole arm. Final analysis revealed no significant difference in efficacy between the study arms. Evaluated gene polymorphisms did not define patient subgroups with improved outcomes. Addition of AS1402 to letrozole was associated with manageable toxicity. CONCLUSIONS: Because adding AS1402 to letrozole did not improve outcomes compared with letrozole only, blocking ER may be a better strategy for harnessing MUC1 modulation of the ER to a clinical advantage. FcγRIIIa, FcγRIIa, and MUC1 allotype did not predict outcome for patients treated with letrozole with or without AS1402.

Inherited mutation of the luteinizing hormone/choriogonadotropin receptor (LHCGR) in empty follicle syndrome.

OBJECTIVE: To test by genomic analysis whether empty follicle syndrome (EFS) in a family with two affected sisters has a genetic basis. DESIGN: Whole-exome sequencing in the context of clinical genetics. SETTING: University hospital. PATIENT(S): Two women (36 and 32 years old at the time of the study) with EFS. INTERVENTION(S): Genetic counseling based on autosomal recessive inheritance. MAIN OUTCOME MEASURE(S): Discovery of a mutation in the LH/choriogonadotropin receptor (LHCGR) as the cause of EFS. RESULT(S): A novel missense mutation in LHCGR, p.N400S, was homozygous in sisters with EFS and/or infertility, but not in their unaffected siblings or parents. The mutation was not present in 500 ancestry-matched control subjects. Asparagine at residue 400 is highly conserved and its substitution by serine predicted to alter critical interactions that stabilize LHCGR. CONCLUSION(S): We describe a genetic basis for EFS and provide strong evidence for the existence of genuine EFS in some patients. A mutation impairing the function of LHCGR explains the lack of response of these patients to repeated administration of ß-hCG.

Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy.

X-linked infantile spinal muscular atrophy (XL-SMA) is an X-linked disorder presenting with the clinical features hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells and infantile death. To identify the XL-SMA disease gene, we performed large-scale mutation analysis in genes located between markers DXS8080 and DXS7132 (Xp11.3-Xq11.1). This resulted in detection of three rare novel variants in exon 15 of UBE1 that segregate with disease: two missense mutations (c.1617 G-->T, p.Met539Ile; c.1639 A-->G, p.Ser547Gly) present each in one XL-SMA family, and one synonymous C-->T substitution (c.1731 C-->T, p.Asn577Asn) identified in another three unrelated families. Absence of the missense mutations was demonstrated for 3550 and absence of the synonymous mutation was shown in 7914 control X chromosomes; therefore, these results yielded statistical significant evidence for the association of the synonymous substitution and the two missense mutations with XL-SMA (p = 2.416 x 10(-10), p = 0.001815). We also demonstrated that the synonymous C-->T substitution leads to significant reduction of UBE1 expression and alters the methylation pattern of exon 15, implying a plausible role of this DNA element in developmental UBE1 expression in humans. Our observations indicate first that XL-SMA is part of a growing list of neurodegenerative disorders associated with defects in the ubiquitin-proteasome pathway and second that synonymous C-->T transitions might have the potential to affect gene expression.

X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping.

PURPOSE: X-linked infantile spinal-muscular atrophy (XL-SMA) is a rare disorder, which presents with the clinical characteristics of hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells and death in infancy. We have previously reported a single family with XL-SMA that mapped to Xp11.3-q11.2. Here we report further clinical description of XL-SMA plus an additional seven unrelated (XL-SMA) families from North America and Europe that show linkage data consistent with the same region. METHODS: We first investigated linkage to the candidate disease gene region using microsatellite repeat markers. We further saturated the candidate disease gene region using polymorphic microsatellite repeat markers and single nucleotide polymorphisms in an effort to narrow the critical region. Two-point and multipoint linkage analysis was performed using the Allegro software package. RESULTS: Linkage analysis of all XL-SMA families displayed linkage consistent with the original XL-SMA region. CONCLUSION: The addition of new families and new markers has narrowed the disease gene interval for a XL-SMA locus between SNP FLJ22843 near marker DXS 8080 and SNP ARHGEF9 which is near DXS7132 (Xp11.3-Xq11.1).

Occupational exposure to blood and body fluids among health care workers in Ankara, Turkey.

BACKGROUND: The risk of occupational acquisition of bloodborne pathogens via exposure to blood and body fluids is a serious problem for health care workers in Turkey. Because there are no systematic recording programs in Turkey, national data concerning frequency of exposures are not readily available. OBJECTIVE: To determine the risk factors of exposure to blood and body fluids among health care workers (HCWs). METHODS: This study was conducted in the hospitals of Ankara University School of Medicine. A structured survey form was administered by person-to-person interview. RESULTS: The study included 988 HCWs: 500 nurses (51%), 212 residents (21%), 152 nurse assistants (15%), and others (13%). Six hundred thirty-four (64%) of the HCWs had been exposed to blood and body fluids at least once in their professional life (0.85 exposure per person-year). The most frequent cause of the sharps injuries was recapping the needle (45%). Of the injured HCWs, 60 (28%) were not using any personal protective equipment, and 144 (67%) did not seek any medical advice for injury. CONCLUSIONS: Systematic control measures, including an effective and goal-oriented education program targeting HCWs, prospective record keeping, and instillation of a special unit for the health of HCWs should be implemented in the hospital setting.