Quantitative microvascular alterations in butterfly-shaped pattern dystrophy and adult-onset foveomacular vitelliform dystrophy.

PURPOSE: To study retinal microvascular parameters in patients with butterfly-shaped pattern dystrophy (BPD) and adult foveomacular vitelliform dystrophy (AFVD). METHODS: This case-control study included BPD and AFVD patients in a tertiary university hospital. Eyes with known ocular disease and prior ocular surgery other than uncomplicated cataract surgery were excluded. Right eyes of healthy individuals without systemic or ocular disease were included as controls. En face 6×6mm angiograms were obtained with the RTVue XR Avanti (Optovue, USA). We used the Kruskal-Wallis test to compare vessel density (VD) values of the retina, optic disc and foveal avascular zone (FAZ) between groups. Dunn-Bonferroni correction was used for pairwise comparisons. RESULTS: Eighteen eyes of 10 BPD patients, 17 eyes of 9 AFVD patients, and 26 right eyes of 26 controls were included. Six patients in the BPD, 4 patients in the AFVD, and 16 patients in the control group were female. The groups did not differ by sex (P=0.650). AFVD patients were of higher mean age (64.3±7.8) than BPD patients (55.9±11.1) and controls (53.6±5.5) (P=0.008, p=0.009). In BPD (P=0.008, P=0.044) and AFVD (P=0.006, P=0.002), parafoveal and perifoveal vessel density (VD) of the superficial capillary plexus were lower than controls. Parafoveal VD of the deep capillary plexus in AFVD was lower than in controls (P=0.012). There was no difference in the foveal avascular area between groups (P=0.563). Optic discs parameters did not differ. CONCLUSION: A comparable loss in vascular density may indicate shared pathophysiology or represent a common sign of impairment in retinal homeostasis. Further research is needed to clarify underlying microvascular pathogenetic mechanisms in pattern dystrophies.

Randomized split-mouth study for evaluating the efficacy of nimesulide and nimesulide + Thiocolchicoside combination following impacted mandibular third molar surgery.

Background and Aim: This study aimed to evaluate acute postoperative pain management and trismus in 35 patients undergoing extractions of the two mandibular third molars, in mesioangular positions, at two different visits who consumed nimesulide + thiocolchicoside or only nimesulide. Material and Methods: According to the medication given, the patients were divided into two groups. Following the first surgery of the impacted third molar patients were given nimesulide (100 mg) + thiocolchicoside (8 mg) together. The healing period was waited for 15 days and in the poursuite of the second surgery, only nimesulide (100 mg) was administered every 12 hours for 7 days. Visual analog scales (VAS) were used to assess the pain in the 6th, 8th, 12th, 24th, and 48th hours and on the 3rd, 5th, and 7th days postoperatively. Digital calipers were used to measure (in mm) the mouth opening capacity pre and postoperatively on the 2nd and 7th days, respectively. Results: Regarding pain alleviation, the nimesulide + thiocolchicoside group was more effective than the nimesulide group. The VAS levels of nimesulide + thiocolchicoside at the 6th, 8th, 12th, 24th, and 48th hours and on the 3rd and 5th days were significantly lower than the nimesulide group. The mouth opening was observed higher in the nimesulide + thiocolchicoside group than in the nimesulide group (P > 0.05). In the nimesulide group, at the end of the 7th day, the trismus measurements were less than the preoperative measurements. There was no statistically significant difference in the Nimesulide + Thiocolchicoside group in the preop-7th days. Conclusion: Nimesulide (100 mg) + thiocolchicoside (8 mg) combination has higher analgesic efficacy and better trismus outcomes compared to only nimesulide (100 mg) when orally administered following mandibular third molar surgeries.

The sole and combined effects of gelatin-thrombin matrix and freeze-dried bone allograft on early bone healing.

AIMS: Gelatin-thrombin matrix (GTM) is a hemostatic agent with applications in maxillofacial surgery consisting of human-derived thrombin and bovine-derived gelatin matrix. The aim of this study was to evaluate the efficacy of GTM alone or with freeze-dried bone allograft (FDBA) in improving early bone healing. MATERIALS AND METHODS: Forty-six adult male Sprague-Dawley rats were used. All animals were randomly assigned to a control group (n = 4) and three study groups (n = 14). Each group was divided into two subgroups for histomorphometric and histological analyses at weeks 1 and 4. The new bone formation, inflammation, fibrosis, necrosis, foreign body reaction, and bone healing scores were evaluated based on the histopathological findings. Multiple comparisons were performed using the Kruskal-Wallis test. Variables that were not normally distributed were evaluated using the Mann-Whitney U test. RESULTS: At 1 week, the GTM + FDBA group showed less bone formation (mean ± SD: 0.08 ± 0.03 mm2), compared with the study and control groups (FDBA: 0.15 ± 0.06 mm2; GTM: 0.13 ± 0.06 mm2). At 4 weeks, the GTM group (0.48 ± 0.1 mm2) showed more bone formation than the GTM + FDBA group (0.33 ± 0.17 mm2). Foreign body reactions were observed at weeks 1 and 4 in all GTM-containing groups. CONCLUSIONS: Within the limitations of this study, GTM group did not show a significant difference in bone formation compared with the control group. GTM did not inhibit bone healing at 1 and 4 weeks, and no significant difference was observed compared with the control groups. GTM was more effective for bone healing when administered without FDBA. GTM is considered safe when bone hemorrhage is encountered.

Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability.

Developmental delay (DD) is a condition wherein developmental milestones and learning skills do not occur at the expected age range for patients under 5 years of age. Intellectual disability (ID) is characterized by limited or insufficient development of mental abilities, including intellectual functioning impairments, such as learning and cause-effect relationships. Isolated and syndromic DD/ID cases show extreme genetic heterogeneity. Array-based comparative genomic hybridization aCGH) can detect copy number variations (CNVs) on the whole genome at higher resolution than conventional cytogenetic methods. The diagnostic yield of aCGH was 15.0-20.0% in DD/ID cases. The aim of this study was to discuss the clinical findings and aCGH analysis results of isolated and syndromic DD/ID cases in the context of genotype-phenotype correlation. The study included 139 cases (77 females, 62 males). Data analysis revealed 38 different CNVs in 35 cases. In this study, 19 cases with pathogenic CNVs (13.6%) and five cases with likely pathogenic CNVs (3.5%) were found in a total of 139 cases diagnosed with DD/ID. When all pathogenic and likely pathogenic cases were evaluated, the diagnosis rate was 17.1%. The use of aCGH analysis as a first-tier test in DD/ID cases contributes significantly to the diagnosis rates and enables the detection of rare microdeletion/microduplication syndromes. The clear determination of genetic etiology contributes to the literature in terms of genotype-phenotype correlation.

Having Multiple Renal Cysts in a Young Adult is not Always a Sign of Polycystic Kidney Disease.

Multiple renal cysts in adult patients could have asymptomatic, benign and a nonprogressive course. However, these cysts could be renal features of a very rare hereditary, progressive syndrome defined as cranioectodermal dysplasia (CED or Sensenbrenner syndrome). Affected patients show dysmorphic features such as craniosynostosis, nail dystrophy, cutaneous dyshydrosis, dry or scaly palmar skin, trichodysplasia, deafness, pectus excavatum, telecanthus, hypertelorism, low set ears, everted lower lip, anteverted nares, short neck and height, joint laxity, inguinal hernia, widely spaced teeth, microdontia, hypodontia in addition to nephronophthisis. We report a 22-year-old male hypertensive patient with multiple renal cysts and dental malformations listed as malocclusion, screwdriver shaped crowns, widely spaced front teeth, microdontia and hyperdontia. Molecular analysis reported missense p.(Ala875Thr) and p.(Lys969Asn) variants in the WDR35 gene. The 1-year follow-up of this case provided the knowledge that angiotensin II receptor blocker drug (olmesartan) reduced the microalbuminuria to normal levels and preserved the renal functions. We suggest interdisciplinary studies, especially intraoral and genetic evaluations for patients with cystic renal diseases. For the first time we report that hyperdontia could be found as a dental feature of CED.

Evaluation of the effects of intra-alveolar irrigation with clindamycin, rifampicin and sterile saline in alveolar osteitis treatment.

BACKGROUND: To evaluate the efficacy of intra-alveolar irrigation made with clindamycin, rifampicin and sterile saline on pain and alveolar mucosa healing in the treatment of alveolar osteitis (dry socket). METHODS: Fifty-four patients diagnosed with alveolar osteitis were divided into three groups for the treatment protocol. Sterile saline was used in Group A, rifampicin was used in Group B and clindamycin was used in Group C for intra-alveolar irrigation. In the groups, the patients were evaluated for their pain levels and alveolar mucosa healing. RESULTS: The incidence of alveolar osteitis was significantly higher in females and mandibles at a statistically significant. In the group that used clindamycin for intra-alveolar irrigation, the pain level was found lower than the two other groups. Clindamycin and rifampicin groups were superior to the sterile saline group in clinical alveolar mucosa healing. CONCLUSION: Irrigation with clindamycin appears to reduce the pain associated with alveolar osteitis when compared to rifampicin and sterile saline. In the treatment of alveolar osteitis, irrigation with antibiotics following curettage was found effective for pain relief and alveolar mucosa healing.

Effects of transcutaneous electrical nerve stimulation on pain after impacted third molar surgery.

BACKGROUND: The aim of this study was to assess the therapeutic effects of Transcutaneous Electrical Nerve Stimulation (TENS) on pain after the impacted third molar surgery. MATERIAL AND METHODS: The study was carried out on 30 patients attending the outpatient department of the oral and maxillofacial surgery. Both sides' impacted mandibular third molars were taken into consideration, and a total of 60 impacted third molars were undergone surgical extraction. After the first surgery, patients were given analgesic, antibiotics, and mouthwash as a routine treatment procedure. Following the second surgery, TENS was applied over the painful area of the cheek for patients in addition to routine treatment procedure. Pain was evaluated with Visual Analog Scale (VAS) at the postoperative 6, 8, 24 hours and 2,3,4 and 5 days. The Student t test was applied to compare pain levels between groups. P <0.05 and p <0.001 were considered significant in all statistical analyses. RESULTS: The study was carried out in 30 patients 15 (50%) female and 15 (50%) male, aged between 20 and 31 years. The mean age of the patients was 24.60 ± 4.76. There was a statistically significant difference in the evaluation of VAS levels in postoperative 6, 8, 24 hours and 2, 3, 4, and 5 days between the routine treatment group and the TENS application group. CONCLUSIONS: TENS activates a complex neuronal network to result in a reduction in pain. In conclusion, TENS application was highly effective in pain modulation following the third molar surgery. Therefore, TENS, which is one of the non-pharmacological pain control methods after such surgeries, can be used safely in reducing postoperative pain.

May supplementation of coenzyme Q10 help prevent development of hydatidiform mole?.

OBJECTIVE: The pathological mechanisms of gestational trophoblastic disease have not yet been clearly determined. It is thought that oxidative damage contributes to the process. The aim of this study was to determine the levels of coenzyme Q10 (CoQ 10), DNA damage, and lipid peroxidation in patients with hydatidiform mole. MATERIALS AND METHODS: The authors studied the levels of CoQ10, 8-hydroxydeoxyguanosine (8-OHdG), malondialdehyde (MDA) by high-performance liquid chromatography (HPLC), and the activity of glutathione peroxidase (GPX) by spectrophotometric method in blood obtained from patients with a complete hydatidiform mole (n=29), healthy pregnant women (n=29), and healthy non-pregnant women (n=29). RESULTS: The 8-OHdG/dG ratio (2.8148 ± 0.81592) and MDA (10.8341 ± 4.64875 µmol) were significantly higher in patients with complete hydatidiform mole, while the ubiquinol-10/ubiquinone-10 ratio (0.2107 ± 0.15675) and GPX activity (43.4606 ± 18.31694 mU/mI) were lower (p < 0.001). CONCLUSION: The authors suggest that both mitochondrial oxidative and oxidative DNA damage play important roles in the pathogenesis of complete hydatidiform mole. Therefore supplementation of CoQ10 prevents recurrent gestational trophoblastic disease.

22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS.

Partial deletion of the long arm of the chromosome 13, 13q deletion syndrome is a rare chromosomal disorder characterized by severe growth and mental retardation, microcephaly, facial dysmorphism, brain malformations (holoprosencephaly, Dandy-Walker malformation), distal limb defects, eye anomalies, genitourinary and gastrointestinal tract malformations (Hirschsprung's disease). Approximately 1.2 Mb region in 13q32 was suggested as minimal critical region which is responsible for severe mental and growth retardation and brain anomalies. Here we described a male patient with de novo interstitial deletion of 13q31.1-q34 associated with short stature, microcephaly, facial dysmorphism, clinodactyly, cryptorchidism, micropenis, epilepsy, HPE, DWM, and HSCR. According to the literature review, present case indicated that smallest deleted region associated with DWM and HPE might be located at the 13q32.3, limb defects 13q34, anogenital malformations 13q33.3-34, and HSCR 13q31.1-32.1.

A NEW ISOLATED 20q INTERSTITIAL DUPLICATION CASE AND ITS CLINICAL COMPARISON WITH SIMILAR ISOLATED CASES.

Duplications of 20q are rare. Here we report a 15 years old boy with de novo duplication of 17.1 Mb at chromosome 20q. We made a comparison with the other isolated 20q duplication cases. There are phenotypic similarities between the patients who have the same affected chromosomal regions. We also showed a clinical follow up of the patient. There may be a relationship with Glaucoma and Graves disease between the chromosomal region and these diseases may occur at the other patients when they get older.

The activities of serum paraoxonase and arylesterase and lipid profile in acute myeloid leukemia: preliminary results.

OBJECTIVE: To investigate the activities of serum paraoxonase-1 (PON1) and arylesterase (ARE), and the lipid profile in newly diagnosed acute myeloid leukemia (AML) patients. PATIENTS AND METHODS: Thirty-two persons (16 of AML and 16 of healthy control) were included to the study. PON1 and ARE activities were measured as spectrophotometrically in serum samples. High density lipoprotein (HDL), low density lipoprotein (LDL), total cholesterol (TC), triglyceride (TG) were analyzed in autoanalyzer. RESULTS: PON1 activities were respectively 16.04 U/L and 18.6 U/L in AML and healthy controls. There was no statistical significance between groups (p > 0.05). The mean ARE activities were respectively 0.21 U/L and 0.36 U/L in AML and healthy controls. Serum ARE activity significantly decreased in AML group (p < 0.001). Serum HDL values were significantly decreased (181.8 ± 76.2 mg/dl; p = 0.002) in AML. There was no difference in total cholesterol, LDL and triglyceride values (respectively; 181.8 ± 76.2 mg/dl, 120.6 ± 64.6 mg/dl, 157.3 ± 87.2 mg/dl; p > 0.05) between AML and controls. CONCLUSIONS: This is the first documented study about serum PON1 activity in AML patients. Although serum PON1 activities were not changed in both groups, our data suggest that the decreased serum ARE activity and HDL levels may be related the pathogenesis of AML.

Partial monosomy 8q and partial trisomy 9q due to the maternal translocation t(8;9(q24.3;q34.1): a case report.

Partial trisomy 9q34-qter and partial monosomy 8q24.3-qter are very rare chromosomal abnormalities. Characteristic features of partial trisomy 9q34-qter are hypotonia, developmental delay, mild intellectual disability, dolichocephaly, distinct facial phenotype, long and thin fingers, and cardiac anomalies. Unlike the partial trisomy 9q34-qter, partial monosomy 8q24.3-qter has no distinct phenotype. Here we report a four years old female patient with partial trisomy 9q34-qter and partial monosomy 8q24.3-qter due to the maternal translocation t(8;9)(q24.3;q34. I). She has developmental delay, brachycephaly, facial dysmorphism, hand and foot anomalies, bilateral hearing loss, cardiac defect and abnormal brain MRI findings. To the best of our knowledge, this is the first report of the combination of partial trisomy 9q and partial monosomy 8q.

A case of onycotricodysplasia with intellectual disability, without neutropenia.

Onychotrichodysplasia, a rare autosomal recessive disorder, presents with hypoplastic fingernails, trichorrhexis, chronic neutropenia, and psychomotor retardation. Here, we describe a rare presentation of a child with onycotrichodysplasia associated with intellectual disability, but without neutropenia. He had sparse, short, dry, curly hair, dysplastic nails and intellectual disability. In contrast to cases described earlier, our patient had normal neutrophil count.

The evaluation of genotoxic potential of ornidazole, nitroimidazole, in lymphocyte culture of patients with amebiasis.

The genotoxicity study of ornidazole (ONZ) was carried out on human lymphocyte chromosomes, using sister chromatid exchange (SCE) and micronucleus (MN). Thirty-two patients with Entemoeba histolitica infection who received 1000 mg/day for 10 days were included in this study. SCE and MN were measured before and after therapy. A statistically significant increase was observed in the SCE (P < 0.001) and MN frequencies (P < 0.001) after ornidazole therapy. It was concluded that ONZ has a potential geno- and cytotoxic effect in human peripheral lymphocyte cultures. For this reason, further, detailed studies are needed to elucidate the ONZ mechanism of genotoxicity and its carcinogenic potential.

Catalase activity, serum trace element and heavy metal concentrations, vitamin A, vitamin D and vitamin E levels in hydatidiform mole.

PURPOSE OF INVESTIGATION: In this study we aimed to measure the activity of catalase, which is an antioxidant enzyme, the concentrations of some trace elements and heavy metals, and vitamin A, D and E levels in serum samples of patients with hydatidiform mole, normal pregnancies and healthy non pregnant women. METHODS: Seventy-two women were enrolled in this study. Of these, 24 were healthy women in the first trimester of pregnancy (HP), 24 were healthy non-pregnant women (NP) and 24 were patients with complete hydatidiform mole (CHM). RESULTS: Serum levels of catalase, Zn, Co, vitamin A, D and E were significantly lower in the CHM group when compared with the HP and NP groups (p < 0.001). Serum levels of Cu, Fe, and Cd were significantly higher in the CHM group when compared with the HP and NP groups (p < 0.001). CONCLUSION: The assessment of oxidant/antioxidant imbalance in pregnant women could be useful in the early determination of molar pregnancy and supplementation with antioxidants may be useful in the treatment of CHM, and may prevent recurrent molar pregnancy.

Catalase activity, serum trace element and heavy metal concentrations, and vitamin A, D and E levels in pre-eclampsia.

Catalase (antioxidant enzyme) activity in erythrocytes and serum levels of trace elements (copper, iron, zinc), heavy metals (cadmium, cobalt) and vitamins A (retinol), D (cholecalciferol) and E (alpha-tocopherol) were measured in 145 subjects comprising 47 pre-eclamptic pregnant women (PE), 48 healthy pregnant women (HP) and 50 healthy non-pregnant controls (NP). Catalase, vitamins A, D and E and levels of cobalt were significantly lower in the PE group compared with the HP and NP groups, whereas levels of copper, iron and cadmium were significantly higher in the PE group than in the HP and NP groups. Levels of zinc were significantly lower in both the PE and HP groups compared with the NP group. This assessment of oxidant/antioxidant imbalance in pregnant women could be useful in the early identification of pre-eclampsia and antioxidant supplementation in the early weeks of gestation might be useful.