Case report: Pai syndrome with multiple ventricular septal defect and without cleft palate.

Pai syndrome is described as the association of a midline cleft lip, midline facial polyps, and lipoma of the central nervous system. However, only a few patients present the full triad, and most exhibit a wide spectrum of phenotypic variability. Its entire clinical spectrum is still poorly delineated and the etiology remains unknown. In this report, a newborn was presented with congenital nasal septal lipoma, lipoma of the corpus callosum, multiple ventricular septal defect, and additional minor facial dysmorphism. This entity, multiple ventricular septal defect, which has never been reported in PS. Cytogenetic analysis showed normal male 46, XY karyotype. Chromosomal microarray analysis (750 K array) was also unremarkable. This case draws attention with the presence of multiple ventricular septal defect in Pai syndrome and is important in terms of providing phenotypic diversity. To our knowledge, this is also the first genetically evaluated case of Pai syndrome from Turkey.

CUSHING'S SYNDROME DUE TO PRIMARY BILATERAL MACRONODULAR ADRENAL HYPERPLASIA AND METACHRONOUS PHEOCHROMOCYTOMA.

Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is one of the uncommon causes of endogenous Cushing's syndrome (CS).Pheochromocytoma (PCC) is another adrenal tumor which is derived from neural crest arising in the adrenal medulla. Here we are reporting a case with recurrent overt CS due to PBMAH, 2 years after unilateral adrenalectomy, concomitant with recently developed PCC. Case Presentation: A 43-year-old woman was admitted to our clinic with a 30 kg weight gain, proximal muscle weakness, menstrual irregularity, easy bruising and excessive hair growth on face and body.The lab results were compatible with a diagnosis of solely ACTH-independent CS. Screening showed bilateral macronodular lesions and she underwent right adrenalectomy. Postoperatively, she had lost weight and her well-being had improved; 2 years later, she developed CS and paroxysmal hypertension. The left adrenal gland was laparoscopically removed. Histopatologically, the lesion was reported as a typical PCC and macronodular-micronodular hyperplasia of the adrenal tissue surrounding that lesion. Conclusions: Pheochromocytoma with synchronous ACTH-independent CS originating from the same adrenal gland is very rare. To the best of our knowledge,our case is the first one describing the coexistence of overt ACTH-independent CS due to PBMAH and metachronous PCC.The importance of detailed re-evaluation of patients with recurrent ACTH-independent CS is highlighted here.

Rapamycin Improves Vascular Remodelling in a Controlled Rat Model of Monocrotaline-Induced Pulmonary Hypertension

ABSTRACT Background: Pulmonary arterial hypertension (PAH) is a serious disease characterized by the progressive elevation of the pulmonary arterial resistance, leading to the right ventricular failure and death. Objective: To evaluate the effect of rapamycin (RAPA), a potent cell-cycle inhibitor, on exercise capacity, right ventricular hypertrophy and pulmonary vascular remodelling on rats. Methods: A total of 39 nine-week-old male Wistar rats (160-240 g) were divided into three groups: the control (n = 10), PAH control (n = 15) and PAH-RAPA (n = 14) groups. On the 1st day, 60 mg/kg monocrotaline was injected intraperitoneally to induce PAH in the PAH control group and PAH-RAPA groups. On the 21st day, 3 mg/kg/day RAPA was started orally, and the animals were followed for 35 days. On the 35th day, the exercise capacity of the rats was analysed through a modified forced swimming test. After measuring their right ventricular systolic pressure using an open-chest method, their hearts and lungs were excised and analysed histopathologically for right ventricular hypertrophy and pulmonary vascular remodelling. Results: Rapamycin treatment provided limited and insignificant improvements in exercise capacity, right ventricular systolic pressure and right ventricular hypertrophy of the rats. However, there was significant recovery in the rats' pulmonary artery muscular layer thickness with the RAPA treatment (p < 0.049). On the 35th day, the mortality rate was 0% in the control group, 53.1% in the PAH control group and 42.9% in the PAH-RAPA group. No statistically significant decrease was observed in their mortality rates with the RAPA treatment (p > 0.16); however, a significant recovery was noted in terms of the rats' median life span (p < 0.006). Conclusion: Pulmonary artificial hypertension is a progressive disease that is not curable with current therapies. Rapamycin may have the potential to reverse vascular remodelling and prolong life expectancy in cases of pulmonary hypertension.

Quantitative analysis of healthy olfactory sulcus depth, olfactory tract length and olfactory bulb volume in the paediatric population: a magnetic resonance study.

BACKGROUND: The aim of this study was to determine the normal reference values for olfactory sulcus depth, olfactory tract length and olfactory bulb volume in the paediatric population with routine magnetic resonance imaging (MRI) and determine the relationship, if any, between these values and patient sex and age. MATERIALS AND METHODS: Ninety patients with a median age of 8 years (age range: 3-17 years), consisting of 45 males and 45 females with normal brain MRI scans were evaluated. The patients were divided into three subgroups based on age range, with n = 30 per subgroup; group 1: young children (3-6 years), group 2: children (7-11 years) and group 3: adolescents (12-17 years). In the cranial MRI examination of all groups, the right, left and total olfactory bulb volume values were measured in mm3, the right and left olfactory tract length values and the right and left olfactory sulcus depth values were calculated manually in mm. Demographic data including sex and age were recorded. RESULTS: There was no significant difference between the age groups in terms of sex. Right-left olfactory sulcus depth; right-left olfactory tract length and right-left total olfactory bulb volume values increased significantly when they are compared in terms of age groups (p < 0.0001, = 0.028; < 0.0001, < 0.0001; < 0.0001, < 0.0001; < 0.0001, respectively). There was no significant difference between right and left olfactory tract length and olfactory bulb volumes in all groups (p = 0.792 and p = 0.478), but the right olfactory sulcus depth was significantly larger than the left (p = 0.003). CONCLUSIONS: Especially as the age progresses, olfactory tract length and olfactory bulb volume dimensions of olfactory nerve and olfactory sulcus depth should be checked during diagnosis of respective illnesses in paediatric population.

Enhanced biodegradation of crude oil in soil by a developed bacterial consortium and indigenous plant growth promoting bacteria.

AIMS: This study aimed to develop an efficient, cost-effective and eco-friendly bacterial consortium to degrade petroleum sludge. METHODS AND RESULTS: Four bacterial strains belonging to genera Acinetobacter and Pseudomonas were selected to constitute three different consortia based on their initial concentration. The highest degradation rate (78%) of 1% (v/v) crude oil after 4 weeks of incubation was recorded when the concentration of biosurfactant (BS) producing isolate was high. Genes, such as alkB, almA, cyp153, pah-rhdGN, nah, phnAC and cat23 were detected using the polymerase chain reaction method and their induction levels were optimal at pH 7·0. A crude oil sludge was artificially constituted, and its bacterial composition was investigated using 16S rRNA gene amplicon sequencing. The results showed that the soil bacterial community was dominated by plant growth-promoting bacteria (PGPB) after crude oil treatment. CONCLUSIONS: Our findings indicate the decontamination of the crude oil contaminated soil was more effective in the presence of both the constituted consortium and PGPB compared to the presence of PGPB alone. SIGNIFICANCE AND IMPACT OF THE STUDY: This study showed that the PGPB (Taibaiella) present in petroleum uncontaminated soil can promote the soil decontamination. The addition of both efficient hydrocarbon-degrading and BS producing bacteria is also necessary to improve the decontamination.

The effects of sildenafil on smoke induced lung inflammation in rats.

OBJECTIVE: Sildenafil is a selective and potent inhibitor of cyclic guanosine monophosphate specific phosphodiesterase-5 and has anti-inflammatory effects. The aim of the study was to evaluate the effects of sildenafil on smoke-induced lung inflammation. MATERIAL AND METHODS: Twenty-nine Wistar-Albino rats were enrolled into 3 groups as control, smoker and sildenafil groups. Smoker and sildenafil groups were exposed to cigarette smoke for 2 hours per day for 8 weeks. Sildenafil 10 mg/kg/day was administered to the sildenafil group by nasogastric lavage after smoke exposure. The degree of lung inflammation was scored histopathologically for each group. RESULTS: The inflammation score was 7.25±0.93 in the control group, 8.18±1.21 in the smoker group and 7.08±1.66 in the sildenafil group. There was a non-significant decrease of inflammation score in sildenafil group with respect to control or smoker groups. While there was no significant difference of oedema, hyperemia, hemorrhage and mononuclear cell infiltration scores among the groups, it was found that the thickness of interalveolar septum and alveolar distortion was decreased in sildenafil group. However this decrease was not statistically significant. CONCLUSION: This study suggests that sildenafil might reduce smoke-induced inflammation in rat lungs. Future studies are needed in order to investigate the clinical effectiveness of this finding in smoking related lung diseases.

The effects of sildenafil on smoke induced lung inflammation in rats

Objective: Sildenafil is a selective and potent inhibitor of cyclic guanosine monophosphate specific phosphodiesterase-5 and has anti-inflammatory effects. The aim of the study was to evaluate the effects of sildenafil on smoke-induced lung inflammation. Material and Methods: Twenty-nine Wistar-Albino rats were enrolled into 3 groups as control, smoker and sildenafil groups. Smoker and sildenafil groups were exposed to cigarette smoke for 2 hours per day for 8 weeks. Sildenafil 10 mg/kg/day was administered to the sildenafil group by nasogastric lavage after smoke exposure. The degree of lung inflammation was scored histopathologically for each group. Results: The inflammation score was 7.25±0.93 in the control group, 8.18±1.21 in the smoker group and 7.08±1.66 in the sildenafil group. There was a non-significant decrease of inflammation score in sildenafil group with respect to control or smoker groups. While there was no significant difference of oedema, hyperemia, hemorrhage and mononuclear cell infiltration scores among the groups, it was found that the thickness of interalveolar septum and alveolar distortion was decreased in sildenafil group. However this decrease was not statistically significant. Conclusion: This study suggests that sildenafil might reduce smoke-induced inflammation in rat lungs. Future studies are needed in order to investigate the clinical effectiveness of this finding in smoking related lung diseases.

A case of fever of unknown origin: necrotizing sarcoid granulomatosis.

Necrotizing sarcoid granulomatosis is a rare type of vasculitis; its etiology and pathogenesis are still unknown. The disease primarily affects the lungs, although extra-pulmonary involvement has been reported. The typical symptoms are cough, chest pain, dyspnea, and weight loss; high temperatures have been reported in rare cases. We present the case of a 65-year-old woman who was diagnosed with lymph node tuberculosis, for which she received treatment for six months. The patient experienced no improvement in her symptoms, which included fever, weakness and dyspnea. A re-evaluation of previously collected thoracoscopic biopsy material revealed compatibility with necrotizing sarcoid granulomatosis.

Maspin expression in endometrial hyperplasia and carcinoma, and its relation with angiogenesis.

AIM: The purpose of this study was to evaluate the maspin expression in endometrial hyperplasia and cancer, and also to investigate its relation with angiogenesis. MATERIALS AND METHODS: A total of 19 women with complex atypical hyperplasia, 44 patients with simple hyperplasia without atypia, and 67 patients with endometrial carcinoma were included. Maspin expression was assessed by immunohistochemistry (IHC), and tested for possible significant relation with age, FIGO stage, histologic type, grade, depth of myometrial invasion (MI), lymphovascular space involvement (LVSI), lymph node metastasis, and overall survival (OS). Angiogenesis was determined by vascular endothelial growth factor (VEGF) staining. RESULTS: Maspin expression was detected in only three patients with endometrial hyperplasia (5%). In patients with endometrial cancer, cytoplasmic and nuclear maspin expressions were detected in 36 (53.7%) and 18 (26.9%) patients, respectively. No significant relation was noted between staining localizations and prognostic variables. The five-year OS rate for patients with cytoplasmic staining was 91%, compared to 87% for patients without staining (p = 0.31). These values for nuclear expression were 100% and 87%, respectively (p = 0.16). The cytoplasmic and nuclear maspin expressions were found to be significantly correlated with VEGF (r = 0.278, p = 0.02 and r = 0.295, p = 0.01, respectively). DISCUSSION: This is the first study to demonstrate the relation between maspin expression and angiogenesis in endometrial cancer. Although no survival difference was noted for cytoplasmic or nuclear maspin expressions, a tendency was detected for nuclear staining. Further series will clarify the exact prognostic role of maspin expression in gynecological malignancies including endometrial cancer.

Effect of azithromycin, as an adjunct to nonsurgical periodontal treatment, on microbiological parameters and gingival crevicular fluid biomarkers in generalized aggressive periodontitis.

UNLABELLED: Emingil G, Han B, Özdemir G, Tervahartiala T, Vural C, Atilla G, Baylas H, Sorsa T. The effect of azithromycin, as an adjunct to nonsurgical periodontal treatment, on microbiological parameters and gingival crevicular fluid biomarkers in generalized aggressive periodontitis. J Periodont Res 2012; 47: 729-739. © 2012 John Wiley & Sons A/S Background and Objective: To study the effectiveness of azithromycin in combination with nonsurgical periodontal therapy on clinical and microbiological parameters, and on the MMP-8 and TIMP-1 levels in gingival crevicular fluid, over a 6-mo time-period in patients with generalized aggressive periodontitis. MATERIAL AND METHODS: Thirty-two patients with generalized aggressive periodontitis were included in this randomized, double-blind, placebo-controlled, parallel-arm study. They were randomly assigned to azithromycin or placebo groups (500 mg once daily for 3 d). Probing depth, clinical attachment levels, presence of bleeding on probing and plaque were recorded. Gingival crevicular fluid samples were obtained from one single-rooted tooth, while microbiological samples were obtained from two single-rooted teeth, all with a probing depth of ≥ 6 mm. Microbiological parameters were analyzed by quantitative real-time PCR for Aggregatibacter actinomycetemcomitans, Porphyromonas gingivalis, Tannerella forsythia, Fusobacterium nucleatum, Prevotella intermedia and total bacteria. Gingival crevicular fluid biomarkers were determined by immunofluorometric assay and ELISA. RESULTS: All clinical parameters improved, and microbiological parameters and gingival crevicular fluid MMP-8 levels significantly decreased, over the 6-mo period (p < 0.05); both groups demonstrated similar improvements. The azithromycin group presented a higher percentage of deep pockets resolved (probing depth reduction of ≥ 3 mm from baseline) compared with the placebo group at 1 mo (p < 0.05). CONCLUSION: Adjunctive azithromycin therapy provides no additional benefit over nonsurgical periodontal treatment on clinical parameters, microbiological parameters and gingival crevicular fluid biochemical markers investigated in patients with generalized aggressive periodontitis.

Effects of calcium dobesilate and diosmin-hesperidin on apoptosis of venous wall in primary varicose veins.

BACKGROUND: Evaluation of the therapeutic effects of calcium dobesilate and diosmin-hesperidin through regulation of apoptosis. PATIENTS AND METHODS: 56 Patients were divided into four groups; Group 1 consisted of patients (n = 18) with the recent diagnosis of primary varicose disorder who have never used medications, Group 2 consisted of patients (n = 14) who have used diosmin-hesperidin for at least six weeks prior to the operation, Group 3 consisted of patients (n = 14) who have used calcium dobesilate for at least six weeks prior to the operation and finally Group 4 (Control group) consisted of normal saphenous vein biopsies (n = 10). All biopsies were stained with Hematoxylin and Eosin. Tissue samples from 56 patients were immunohistochemically stained with antibodies of anti-bcl-2, anti-bax and anti-p53. Apoptosis was evaluated by TUNEL method. RESULTS: There were no statistically significant differences among the groups in respect to gender distribution and smoking status. Immunohistochemical evaluation of apoptosis related proteins revealed a statistically significant difference between Group 4 and the other groups with respect to the apoptag staining on venous wall (p = 0.026). There were significant differences in the presence of bcl-2 protein expression between groups 4 and Group 1 (p = 0.0002) and between Group 1 and Group 3 (p = 0.023). CONCLUSIONS: Our study highlights the significance of apoptosis in varicose disorders and suggests that calcium dobesilate, which is used in the treatment of varicose veins, could be of benefit by regulating apoptosis.

The prognostic value of endoglin (CD105) expression in ovarian carcinoma.

Intratumoral angiogenesis has become an important issue after the identification of antiangiogenic therapeutics. The purpose of this study was to investigate the prognostic value of CD105 in patients with ovarian cancer and also to compare with CD31. Fifty-eight patients were included to this study. All the paraffin blocks were reviewed, and angiogenesis was determined by immunohistochemical staining, using anti-CD105 and anti-CD31 monoclonal antibodies. The mean microvessel density (MVD) with CD105 and CD31 were 28.78 +/- 22.20 and 28.69 +/- 18.57, respectively (P = 0.97). With respect to prognostic factors, CD31 was only significant for suboptimal cytoreduction (P = 0.02), and CD105 was significant for both advanced stage and suboptimal cytoreduction (P = 0.02 and P = 0.05, respectively). For survival analysis, patients were divided into three groups by quartiles for each marker (group 1, <25%; group 2, 25-75%; and group 3, >75%). By CD31, only significant difference was noted between group 1 and group 2 (P = 0.03). In analysis with CD105, the survival rate of patients with group 3 was significantly worse than group 1 and group 2 (P = 0.01 for both). In multivariate analysis, cytoreduction and MVD determined by CD105 remained significant. In this study, endoglin was found to be an independent predictor of poor survival. Therefore, it could be used for antiangiogenic therapies.

Nocturnal enuresis and upper airway obstruction.

PURPOSE: The purpose of this paper is to investigate the relationship between nocturnal enuresis (NE) and upper airway obstruction (UAO) in pediatric population. MATERIAL AND METHODS: This study presents the results of our experience with 321 children who underwent adenotonsillar surgery. RESULTS: Among 321 children who were operated on, 111 (35%) had NE. Seventy-four of the 111 children who had NE have been evaluated postoperatively. After a follow-up period of 3 months 47 (63%) patients were free of their complaints, while three (4%) of them reported decrease in the frequency of NE and 24 had no change in their complaints. CONCLUSIONS: We do suggest that UAO is probably a more common etiological factor in NE than previously recognised.

Choanal polyp of sphenoidal origin.

Sphenochoanal polyp is a rare entity which originates in the sphenoid sinus cavity and extends into the choana via the ostium. It presents in a similar manner to the more common antrochoanal polyp. Radiological examination is necessary to differentiate between these two types. We present a case of sphenochoanal polyp and review the clinical, radiological and pathological features. The role of endoscopic sinus surgery is emphasised.

The development of synkinesis after facial nerve paralysis.

In this study, the development of clinical synkinesis after facial nerve paralysis (FP) and its relationship to electrophysiological findings were investigated. Thirty-four patients who were examined within the first 5 days after onset of FP and who could also be followed up for at least 4 months were included in the study. Electrophysiological investigations consisted of: (1) recording of the direct responses by facial nerve stimulation at the stylomastoid fossa; (2) recording of the 'synkinetic spread' of the supraorbital nerve reflex to the lower facial muscles; (3) recording of the 'lateral spread responses' by stimulating the mandible and zygomatic branches of the facial nerve. Clinical synkinesis developed in 14 of 18 patients (78%) with a direct response ratio (DRr) of less than 40%. Among the 16 patients with a DRr of 40% or more, synkinesis was observed in 3 cases (18.7%) only. The DRr provided reliable information concerning the development of synkinesis. Forty percent seemed to be a reasonable limit to distinguish the high-risk group for the development of clinical synkinesis.