Retroperitoneal bronchogenic cyst mimicking an adrenal cyst: case report.

Bronchogenic cysts are rare lesions that form during early embryogenesis and are commonly located in the mediastinum. Retroperitoneal bronchogenic cysts (RBs) are exceptionally rare, with only a handful of cases reported in the modern literature. Here, we report an RB found incidentally on imaging in a patient with suspected nephrolithiasis. We also review the unique imaging and histopathological findings of this entity and discuss why prophylactic surgery is considered the treatment of choice.

Cases of hypogonadotropic hypogonadism: A single-center experience.

Background: Delayed puberty (DP) affects approximately 2% of adolescents. In most patients of both genders, delayed puberty is due to constitutional delay in growth and puberty (CDGP); it is a self-limiting condition starting later than usual during puberty but progressing normally. Other causes of DP include permanent hypogonadotropic hypogonadism, functional hypogonadotropic hypogonadism, and gonadal insufficiency. Methods: Nine patients admitted to the Ankara Atatürk Sanatoryum Training and Research Hospital Pediatric Endocrinology Department with hypogonadotropic hypogonadism between January 2012 and December 2022 were analyzed. Results: Nine patients who applied to our pediatric endocrinology clinic with delayed puberty were analyzed. These nine patients were diagnosed and reported as hypogonadotropic hypogonadism with molecular methods. We aimed to determine the status of these cases from a molecular point of view, to emphasize the importance of hypogonadotropic hypogonadism in patients with delayed puberty, and to reveal the rarely encountered delayed puberty together with the clinical and laboratory data set of the patients. Conclusions: To emphasize the importance of hypogonadotropic hypogonadism, which is a rare cause of delayed puberty, the molecular predispositions of our patients followed in our clinic are reviewed, and the data we have provided will contribute to the accumulation of data in this area.

An increasing threat in intensive care units: evaluation of multi-drug-resistant Myroides spp. infections and risk factors.

BACKGROUND: Myroides spp. are Gram-negative bacilli that are commonly found in soil and water, acting as low-level opportunistic pathogens and causing a variety of infections. AIM: To assess the risk factors for multi-drug-resistant myroides infections, association with comorbid illnesses, patient care and susceptibility to antibiotics. METHODS: This retrospective analytical study was conducted in Istanbul Basaksehir Çam and Sakura City Hospital, and included patients with Myroides spp. isolated in their culture samples. Total hospitalization days, first isolation day and 30-day mortality values of the patients were analysed statistically, and P<0.05 was considered to indicate significance. RESULTS: Myroides spp. were isolated from 437 culture samples from 228 patients. Of these cases, 210 (92.1%) were classified as having asymptomatic bacteriuria, and 18 (7.9%) as having an infection caused by Myroides spp. One hundred and seventy-four (76.3%) patients were followed up in the intensive care unit, and total hospitalization days (median 24.5 days) and first isolation day (median 9.5 days) of infected patients were shorter than those for colonized patients (P=0.023 and 0.030, respectively). No difference was found in 30-day mortality between infected and colonized patients (P=0.312). CONCLUSIONS: Myroides infections were seen more frequently in patients who were hospitalized for a long time, used broad-spectrum antimicrobials, underwent invasive procedures, and had co-factors such as diabetes and cerebrovascular disease. In addition, the resistance rates of Myroides odoratus were higher than those of Myroides odoratimimus, and the use of quinolones for the treatment of patients with M. odoratimimus infection led to a higher cure rate.

Ultrasound-guided erector spinae block versus mid-transverse process to pleura block for postoperative analgesia in lumbar spinal surgery.

BACKGROUND: In recent years, promising results were achieved with the use of ultrasound (US)-guided interfascial plane blocks for effective postoperative analgesia in several surgeries. Erector spina plane (ESP) block and mid-transverse to pleura plane (MTP) block are the latest techniques in this area. The aim of this prospective and randomized study was to compare the postoperative analgesic efficacy of bilateral ESP and MTP blocks in patients undergoing lumbar spinal surgery under general anesthesia (GA). METHODS: A total of 120 adult patients were included in the study and randomized into 3 groups: group ESP (n = 40), group MTP (n = 40) and group Control (n = 40). The patients in the group ESP received a bilateral block by injecting 20 ml of 0.25% bupivacaine at a vertebrae level in the mid-point of the incision before GA. The same LA was administrated bilaterally at the T12/L1 level in the group MTP. Postoperatively, a multimodal analgesic regimen including an intravenous tramadol patient-controlled analgesia (PCA), paracetamol and dexketoprofen was used in all groups. Postoperative pain was assessed using a visual analogue scale (VAS) during the first 48 postoperative hours. Pethidine was used as a rescue analgesic when VAS score was >3. Primary outcome measure was mean pain scores. Secondary outcome measures were consumption of rescue analgesic and the amount of tramadol delivered by PCA. A p < 0.05 was considered statistically significant. RESULTS: Mean VAS scores were significantly higher in the group Control than in the group MTP and group ESP at all-time points during 48 h (Control > MTP > ESP; p < 0.001). Mean VAS scores were lower in group ESP than group MTP in postoperative 12 h (p < 0.001). Rescue analgesic consumption, number of bolus demand on PCA, PCA bolus demand dose, total PCA dose, and complications related to opioid consumption were highest in control group and lowest in ESP group (Control > MTP > ESP; p < 0.001). CONCLUSION: Both ESP and MTP blocks provided effective pain relief after lumbar spinal surgery but the ESP block was superior to MTP block regarding postoperative analgesia in the first 24 h.

A New Splice-site Mutation of SPINK5 Gene in the Netherton Syndrome with Different Clinical Features: A Case Report.

Netherton syndrome (NS) is a rare genodermatosis characterized by the triad of ichthyosiform erythroderma, hair shaft abnormality and an atopic diathesis. We report a case of a 20-year-old male patient presented with pruritus, decreased sweat secretion and generalized erythema on his body. Netherton syndrome is caused by mutations in the SPINK5 gene that is a crucial role for epidermal barrier function in the skin. Different clinical and phenotypical features can occur based on various LEKTI-domains mutations. Diagnosis is made by the atopic story, hair shaft abnormality, cutaneous lesions and identification of the SPINK5 gene mutation. In our patient, we detected a new splice site mutation in the SPINK5 gene and pili annulati as hair abnormality. Affected patients are usually misdiagnosed because of cutaneous lesions such as atopic dermatitis. Therefore, each clinical finding should be evaluated together. We aimed to present a case with a new SPINK5 gene mutation and different clinical features in NS.

An eight-case 1q21 region series: novel aberrations and clinical variability with new features.

BACKGROUND: Rearrangement of the 1q21 region of chromosome 1 manifests as multiple phenotypes, including microcephaly, intellectual disability, dysmorphic facial features, eye abnormalities, cardiac defects, genitourinary anomalies, autism spectrum disorder, psychiatric conditions and seizures. Herein, we describe eight patients with 1q21 deletion and duplication syndromes, and novel deletions and findings. METHODS: Chromosomal microarray analysis was performed to identify the existence of copy number variation. Quantitative polymerase chain reaction was applied using specific primers for the control and 1q21 region of chromosome 1. Mutational analysis was performed in case 5 using direct genomic sequencing for exons 1-6 in RBM8A. RESULTS: Copy number variation analysis identified seven deletions and one duplication of the 1q21 region in the eight patients. In addition, four variations were de novo, and two deletions are reported here for the first time. One of the cases (case 7) presents moderate intellectual disability and dysmorphic facial findings, whereas chromosomal microarray analysis showed that case 7 had an 889-kb deletion in the 1q21 proximal region (GPR89A, PDZK1, CD160, POLR3C and NBPF12). CONCLUSION: Although the deletion in case 5 did not include the thrombocytopenia-absent radius syndrome critical region or the RBM8A gene, he had pectoral muscle hypoplasia, radius and humerus hypoplasia and short curved ribs, which are indicative of a potential thrombocytopenia-absent radius region modifier. The findings in case 7 suggest that the proximal part of the 1q21 microdeletion syndrome region might be very important for the onset of clinical manifestations. Some novel findings were observed in the presented cases, such as radius and humerus hypoplasia and brain stem hypoplasia. The presented findings expand the spectrum of 1q21 aberrations and provide evidence of genotype-phenotype correlations for this region.

Mitochondrial DNA copy number alterations in familial mediterranean fever patients.

OBJECTIVES AND BACKGROUND: Familial Mediterranean Fever (FMF) is characterized by recurrent fever episodes as a result of inflammation of serous membranes. Changes in the number of different mtDNA copy number variations, detected in FMF patients, who developed amyloidosis, might be an important parameter in the understanding of the pathophysiology of the disease. METHODS: Changes in the mtDNA copy number between 50 patients with FMF, who had M694V homozygote mutation and amyloidosis, and 50 healthy controls, who had not any MEFV mutation or FMF clinical finding, were examined. The 22 MEFV mutations were analyzed by Pyromark Q24 system. Quantitative analysis was performed on RT-PCR. The level of mtDNA was calculated using the delta Ct (ΔCt) of average Ct of mtDNA and nDNA (ΔCt = Ct mtDNA-Ct nDNA) in the same well as an exponent of 2 (2ΔCt). RESULTS: A significant decrease in the amount of mtDNA was detected in FMF patients with M694V homozygous mutation carriers, who developed amyloidosis compared to the control group (p < 0.001). CONCLUSION: In this study, mitochondrial dysfunction, which has been identified through changes in the mitochondrial genome in many diseases, was identified by showing that the copy number variations of mtDNA in leukocytes also decreased for FMF disease (Tab. 3, Fig. 1, Ref. 21).

Association between seroprevalence of measles and various social determinants in the year following a measles outbreak in Turkey.

OBJECTIVES: Despite an ongoing measles elimination programme, a measles outbreak occurred in 2013 in Turkey. Population-based seroprevalence studies are needed to determine seronegativity and explore the reasons for this outbreak. This study aimed to explore the seroprevalence of measles and its association with various social determinants in a provincial population in Turkey in the year following a measles outbreak. STUDY DESIGN: Cross-sectional study. METHODS: This study was conducted in Manisa Province in 2014 in a sample of 1740 people aged >2 years. The dependent variable was the seroprevalence of measles. Independent variables were sex, age, migration, household size, household density, income, education level, existence of chronic disease and occupational class. Blood samples were collected from participants at family health centres. The presence of specific measles antibodies in serum samples was determined using an anti-measles virus IgG enzyme-linked immunosorbent assay test. Chi-squared test and logistic regression analysis were performed. RESULTS: Overall, data from 1250 people were analysed. The seroprevalence of measles in the whole study population was 82.2% (95% confidence interval 80.0-84.2). Seroprevalence was 55.4% among subjects aged 2-9 years, 48.7% among subjects aged 10-19 years, 74.1% among subjects aged 20-29 years and 93.6% among subjects aged 30-39 years (P < 0.01). Seroprevalence in subjects aged >40 years was >95%. The lowest seroprevalence was found in primary school children (40.2%), followed by those below the age for primary education (69.8%) and secondary school graduates (75.1%). The prevalence of measles seronegativity was not associated with any of the social determinants when adjusted for age. CONCLUSIONS: The seroprevalence of measles was lower than expected in the study population and was particularly low in subjects aged <30 years of age despite previous vaccination. Seroprevalence was not associated with social determinants of health that confirmed either an even distribution of virus exposure or fair access to vaccination services. However, the current seroprevalence cannot be sufficiently effective to reach the measles elimination targets, suggesting that it may be necessary to re-evaluate the need for an extra dose of measles vaccine.

Potential errors in relative dose measurements in kilovoltage photon beams due to polarity effects in plane-parallel ionisation chambers.

Plane-parallel ionisation chambers are regularly used to conduct relative dosimetry measurements for therapeutic kilovoltage beams during commissioning and routine quality assurance. This paper presents the first quantification of the polarity effect in kilovoltage photon beams for two types of commercially available plane-parallel ionisation chambers used for such measurements. Measurements were performed at various depths along the central axis in a solid water phantom and for different field sizes at 2 cm depth to determine the polarity effect for PTW Advanced Markus and Roos ionisation chambers (PTW-Freiburg, Germany). Data was acquired for kilovoltage beams between 100 kVp (half-value layer (HVL) = 2.88 mm Al) and 250 kVp (HVL = 2.12 mm Cu) and field sizes of 3-15 cm diameter for 30 cm focus-source distance (FSD) and 4 × 4 cm2-20 × 20 cm2 for 50 cm FSD. Substantial polarity effects, up to 9.6%, were observed for the Advanced Markus chamber compared to a maximum 0.5% for the Roos chamber. The magnitude of the polarity effect was observed to increase with field size and beam energy but was consistent with depth. The polarity effect is directly influenced by chamber design, with potentially large polarity effects for some plane-parallel ionisation chambers. Depending on the specific chamber used, polarity corrections may be required for output factor measurements of kilovoltage photon beams. Failure to account for polarity effects could lead to an incorrect dose being delivered to the patient.

Trehalose enhances osmotic tolerance and suppresses lysophosphatidylcholine-induced acrosome reaction in ram spermatozoon.

This study was aimed to investigate the influence of trehalose on osmotic tolerance and the ability of ram spermatozoon to undergo acrosome reaction induced by lysophosphatidylcholine (LPC). In experiment 1, the diluted ejaculates were exposed to anisosmotic fructose solutions (70, 500, 750 and 1000 mOsm l(-1) ) with or without 50 mm trehalose. The presence of trehalose in hyperosmotic conditions enhanced (P < 0.05) the percentage of live, live-intact and intact spermatozoa. Similarly, trehalose enhanced (P < 0.05) the live and live-intact spermatozoa during hypo-osmotic conditions. In experiment 2, the centrifuged ejaculates were diluted with TCG only or TCG containing either 50 or 100 mm trehalose. The acrosome reaction was induced by LPC. The percentage of acrosome-reacted spermatozoon was less (P < 0.05) in trehalose-supplemented groups compared to control. In experiment 3, the ejaculates were cryopreserved in an extender containing 0 mm (control), 50 mm or 100 mm trehalose. Supplementation of extender with trehalose, either 50 mm or 100 mm, enhanced the cryosurvival rate (P < 0.05) compared to the control. In conclusion, the presence of trehalose in anisosmotic conditions enhances the osmotic tolerance, cryosurvival rate of ram spermatozoon and suppresses their ability to undergo LPC and cryo-induced acrosome reaction.

OXA- and GES-type ß-lactamases predominate in extensively drug-resistant Acinetobacter baumannii isolates from a Turkish University Hospital.

We determined the antibiotic susceptibility and genetic mechanisms of resistance in clinical strains of Acinetobacter baumannii from Istanbul, Turkey. A total of 101 clinical strains were collected between November 2011 and July 2012. Antimicrobial susceptibility was performed using the Vitek 2 Compact system and E-test. Multiplex PCR was used for detecting bla(OXA -51-like), bla(OXA -23-like), bla(OXA -40-like) and bla(OXA -58-like) genes. ISAba1, bla(IMP -like), bla(VIM -like), bla(GES), bla(VEB), bla(PER -2), aac-3-Ia and aac-6'-Ib and NDM-1 genes were detected by PCR and sequencing. By multiplex PCR, all strains were positive for bla(OXA -51), 79 strains carried bla(OXA -23) and one strain carried bla(OXA -40). bla(OXA -51) and bla(OXA -23) were found together in 79 strains. ISAba1 element was detected in 81 strains, and in all cases it was found upstream of blaOXA -51 . GES-type carbapenemases were found in 24 strains (GES-11 in 16 strains and GES-22 in 8 strains) while bla(PER -2), bla(VEB -1), bla(NDM -1), blaIMP - and blaVIM -type carbapenemases were not observed. Aminoglycoside modifying enzyme (aac-3-Ia and aac-6'Ib) genes were detected in 13 and 15 strains, respectively. Ninety-seven (96%) A. baumannii strains were defined as MDR and of these, 98% were extensively drug resistant (sensitive only to colistin). Colistin remains the only active compound against all clinical strains. As seen in other regions, OXA-type carbapenemases, with or without an upstream ISAba1, predominate but GES-type carbapenemases also appear to have a significant presence. REP-PCR analysis was performed for molecular typing and all strains were collected into 12 different groups. To our knowledge, this is the first report of GES-11 and OXA-40 in A. baumannii from Turkey.

The synergistic antinociceptive interactions of morphine and dexmedetomidine in rats with nerve-ligation injury.

BACKGROUND: Peripheral nerve injury may result in chronic neuropathic pain, which is characterized by spontaneous pain, hyperalgesia, and allodynia. Intrathecal administration of opioids and α2-adrenoceptor agonists produces spinal analgesia by activation of opioidergic and noradrenergic systems. In our study, we have compared the synergistic antiallodynic interaction and side-effects of intrathecal morphine and dexmedetomidine in a rat model of neuropathic pain. METHODS: Male Wistar rats, weighing 380-440 g, were treated with tight ligation of left L5-6 spinal nerves and a chronic catheter was implanted intrathecally. Morphine and dexmedetomidine were administered intrathecally to obtain the dose-response curves and the 50 % effective doses (ED50) for each drug and fractional analysis of the ED50 of each drug administered concurrently was performed to examine the interaction. Mechanical allodynia was measured by using application of von Frey filaments to the hindpaw. RESULTS: Intrathecal administration of morphine and dexmedetomidine alone and in combination resulted in a dose-dependent antiallodynic effect, and the combination produced a synergistic effect-state magnitude. Moreover, the incidence of side-effects was higher when morphine or dexmedetomidine were administered in high doses alone and extremely low when these two drugs were used in combination. These results are suggestive of a synergistic effect at lower doses of both drugs. CONCLUSIONS: These findings may provide a rationale for combining such drugs for the improvement of human postoperative or neuropathic pain treatment in the future.

Non-equilibrium cation distribution and enhanced spin disorder in hollow CoFe2O4 nanoparticles.

We present magnetic properties of hollow and solid CoFe(2)O(4) nanoparticles that were obtained by annealing of Co(33)Fe(67)/CoFe(2)O(4) (core/shell) nanoparticles. Hollow nanoparticles were polycrystalline whereas the solid nanoparticles were mostly single crystal. Electronic structure studies were performed by photoemission which revealed that particles with hollow morphology have a higher degree of inversion compared to solid nanoparticles and the bulk counterpart. Electronic structure and the magnetic measurements show that particles have uncompensated spins. Quantitative comparison of saturation magnetization (M(S )), assuming bulk Néel type spin structure with cationic distribution, calculated from quantitative XPS analysis, is presented. The thickness of uncompensated spins is calculated to be significantly large for particles with hollow morphology compared to solid nanoparticles. Both morphologies show a lack of saturation up to 7 T. Moreover magnetic irreversibility exists up to 7 T of cooling fields for the entire temperature range (10-300 K). These effects are due to the large bulk anisotropy constant of CoFe(2)O(4) which is the highest among the cubic spinel ferrites. The effect of the uncompensated spins for hollow nanoparticles was investigated by cooling the sample in large fields of up to 9 T. The magnitude of horizontal shift resulting from the unidirectional anisotropy was more than three times larger than that of solid nanoparticles. As an indication signature of uncompensated spin structure, 11% vertical shift for hollow nanoparticles is observed, whereas solid nanoparticles do not show a similar shift. Deconvolution of the hysteresis response recorded at 300 K reveals the presence of a significant paramagnetic component for particles with hollow morphology which further confirms enhanced spin disorder.

Liver resection of colorectal liver metastases in elderly patients.

BACKGROUND: The percentage of elderly patients with colorectal liver metastases (CLM) has increased. Liver resection remains the only curative therapy; data evaluating the outcome in this age group is limited. Aim of the present study was to determine if postoperative morbidity, mortality, and other independent predictors influence survival in patients ≥ 70 years undergoing liver resection for CLM. METHODS: Clinical data on primary tumor and metastases of 939 patients after liver resection for CLM between 1994 and 2008 were retrospectively collected and subdivided in three age-groups (≥ 70, 40-69, <40). Independent predictors of survival were evaluated with overall and age-specific univariate and multivariate Cox regression models. RESULTS: A total of 939 patients underwent liver resection for CLM, 20.3% aged ≥ 70 years. Overall postoperative mortality and morbidity were 1.08 and 14.82%, revealing no age-related differences. With 5-year survival of 31.8% in the elderly and 37.5% in the mid-age population, age ≥ 70 years was linked with decreased survival (Hazard Ratio [HR] = 1.305; P = 0.0186). Multivariate overall analyses showed size of CLM > 50 mm (HR = 1.376; P = 0.0060), a high amount of transfusion during surgery (HR = 1.676; P = 0.0110), duration of surgery >210 min (HR = 1.241; P = 0.0322), primary UICC (International Union Against Cancer) stage IV (HR = 2.297; P < 0.0001), and performance of repeat resections (HR = 0.652; P = 0.0107) as independent predictors of survival. In the elderly group, effects of UICC IV (HR = 3.260; P = 0.0148) and high numbers of transfusions (HR = 3.647; P = 0.0129) were confirmed; the others did not show statistical significance. CONCLUSIONS: Resection of CLM at older age is feasible with morbidity and mortality rates similar to those in younger patients. Although age ≥ 70 was shown to be associated with poorer overall outcome, reasonable 5-year survival was observed.

Baller-Gerold syndrome associated with dextrocardia.

Baller-Gerold Syndrome (BGS) is a rare autosomal recessive disorder that is apparent at birth. The disorder is characterized by distinctive malformations of the skull and facial area and bones of the forearms and hands. We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral absent thumbs and radii led to a diagnosis of Baller-Gerold syndrome. Physical examination revealed that the heart was localized to the right side. Echocardiography confirmed dextrocardia. Dextrocardia has not previously been reported with Baller-Gerold syndrome. To the best of our knowledge, this is the first reported case of Baller-Gerold syndrome associated with dextrocardia.

Congenital myasthenic syndrome: a case report.

SUMMARY: Congenital myasthenic syndromes (CMS) are diseases of the neuromuscular junction. They usually belong to the disease groups that begin in the infantile or childhood period and carry genetic characteristics. The following is important in establishing the diagnosis of this disease: clinical findings, electromyography, genetic tests, determination of serum acetylcholine receptor antibodies. Acetylcholine esterase inhibitor drugs are used in treatment of CMS. A seven-month old male patient was brought to our department with the complaints of difficult breathing, falling of the eyelids and swallowing difficulty. With clinical and laboratory findings, he was diagnosed with congenital myasthenia and treatment was started. CMS should be suspected in patients with no pathological findings on the physical examination, and normal chest X-rays.

Recording event-related activity under hostile magnetic resonance environment: Is multimodal EEG/ERP-MRI recording possible?

Event-related potentials (ERPs) have high temporal resolution, but insufficient spatial resolution; the converse is true for the functional imaging techniques. The purpose of the study was to test the utility of a multimodal EEG/ERP-MRI technique which combines electroencephalography (EEG) and magnetic resonance imaging (MRI) for a simultaneously high temporal and spatial resolution. The sample consisted of 32 healthy young adults of both sexes. Auditory stimuli were delivered according to the active and passive oddball paradigms in the MRI environment (MRI-e) and in the standard conditions of the electrophysiology laboratory environment (Lab-e). Tasks were presented in a fixed order. Participants were exposed to the recording environments in a counterbalanced order. EEG data were preprocessed for MRI-related artifacts. Source localization was made using a current density reconstruction technique. The ERP waveforms for the MRI-e were morphologically similar to those for the Lab-e. The effect of the recording environment, experimental paradigm and electrode location were analyzed using a 2x2x3 analysis of variance for repeated measures. The ERP components in the two environments showed parametric variations and characteristic topographical distributions. The calculated sources were in line with the related literature. The findings indicated effortful cognitive processing in MRI-e. The study provided preliminary data on the feasibility of the multimodal EEG/ERP-MRI technique. It also indicated lines of research that are to be pursued for a decisive testing of this technique and its implementation to clinical practice.