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2.
Diagn Cytopathol ; 2024 May 01.
Article En | MEDLINE | ID: mdl-38690675

BACKGROUND: In patients with extrathoracic malignancies (ETM), granulomatous lymph adenopathy called sarcoid-like reactions (SLR) can be seen in the regional or draining lymph nodes. We hypothesized that SLR may be a sign of imminent metastasis and investigated the clinical course and rate of recurrence in patients with ETM and granulomatous mediastinal lymphadenopathy (MLN). METHODS: In this retrospective observational study, we reviewed the medical files of patients with known ETM and who underwent EBUS-TBNA for initial staging or detection of recurrence from 2011 to 2023. Patients with granulomatous MLN were included. RESULTS: Forty-one patients (29 female) enrolled in the study. Breast and colorectal carcinomas were the most common malignancies. A total of 81 lymph nodes were sampled. The final diagnosis of patients was five sarcoidosis, one tuberculosis, one second primary, one drug reaction, and 33 SLR. Among patients with SLR, in one patient lymph nodes progressed during the follow-up and were accepted as false-negative without confirmatory biopsy. The negative predictive value (NPV) of granulomatous MLN for metastasis was 97.05%. CONCLUSION: Granulomatous MLN may be due to tuberculosis, drug reaction, sarcoidosis, or SLR in patients with ETM. SLR has a high NPV in patients with ETM. Follow-up imaging rather than confirmatory biopsy is reasonable in these patients.

3.
J Dev Orig Health Dis ; 15: e10, 2024 May 10.
Article En | MEDLINE | ID: mdl-38724487

Premature infants have a risk of neurodevelopmental deficits. Little is known, however, about how retinopathy of prematurity (ROP) affects visual motor integration (VMI), which is necessary for both fine motor skills and further school abilities. Due to the systemic escape of bevacizumab in the treatment of ROP, concerns regarding the long-term neurodevelopmental effect of the drug have arisen. The aim is to evaluate VMI and motor development long-term outcomes after intravitreal bevacizumab (IVB) injection and laser treatment for ROP. Two groups of premature children were included: Bevacizumab group - 16 premature children who received IVB treatment and laser group - 23 premature children who underwent laser photocoagulation treatment in this single center cross-sectional study. At 2-6 years of age, VMI (Beery-Buktenica Developmental Test), motor development (Peabody Developmental Motor Scales-2), visual acuity, and refractive status were assessed. The incidence of abnormal visual function was significantly higher in bevacizumab group than in laser group (p = 0.022). The incidence of abnormal VMI skill was significantly higher in bevacizumab group than in laser group (p = 0.024). Incidences of abnormal gross, fine, and total motor skills were significantly higher in bevacizumab group compared to laser group (p < 0.05). Premature children who received bevacizumab for ROP demonstrated significantly lower VMI and motor development features than those with laser treatment at preschool age. Although our results suggest the relevance of bevacizumab injection in impaired VMI and motor development outcomes, general level of sickness rather than treatment might be the cause of delayed motor development.


Bevacizumab , Child Development , Retinopathy of Prematurity , Humans , Retinopathy of Prematurity/therapy , Retinopathy of Prematurity/physiopathology , Retinopathy of Prematurity/surgery , Male , Female , Bevacizumab/administration & dosage , Bevacizumab/therapeutic use , Child, Preschool , Cross-Sectional Studies , Child , Child Development/drug effects , Child Development/physiology , Infant, Newborn , Infant, Premature , Angiogenesis Inhibitors/administration & dosage , Angiogenesis Inhibitors/therapeutic use , Motor Skills/physiology , Intravitreal Injections
4.
Turk J Chem ; 48(1): 166-175, 2024.
Article En | MEDLINE | ID: mdl-38544896

Nonoxidative dehydrogenation of propane to propylene using Pt-based supported catalysts is an active research area in catalysis because catalyst attributes of Pt sites can be controlled by careful design of active sites. One way to achieve this is by the addition of a second metal that may impart a change in the electron density of active sites, which in turn affects catalytic performance. In this study, bimetallic Pt and B sites were deposited on powder SiO2 using atomic layer deposition (ALD). Boron was first deposited on SiO2 via half-cycle ALD using triisoproplyborate as the B source. Following calcination, Pt deposition was performed via half-cycle ALD using trimethyl(methylcyclopentadienyl)platinum(IV) as the Pt source. The synthesized catalysts were reduced under H2 at 550 °C and characterized using inductively coupled plasma optical emission spectroscopy for elemental analysis, diffuse reflectance infrared Fourier transform spectroscopy of adsorbed CO to examine the properties of Pt, and time-resolved X-ray absorption near edge structure spectroscopy to examine the changes in the reducibility of Pt sites. The samples were then tested for nonoxidative dehydrogenation of propane at 550 °C using a fixed-bed plug-flow reactor to examine the role of B on the catalytic performance. Characterization results showed that the addition of B imparted an increase in electron density and affected the reducibility of Pt sites. In addition, incorporating B on SiO2 created anchoring sites for Pt ALD. The amount of Pt deposited on B/SiO2 was 2.2 times that on SiO2. Catalytic activity results revealed the addition of B did not change the initial activity of Pt sites significantly, but improved propylene selectivity from 80% to 87% and stability almost threefold. The enhanced selectivity and stability of PtB/SiO2 is most presumably due to favored desorption of propylene and mitigating coke formation under reaction conditions, respectively.

5.
J Investig Med ; 72(4): 387-391, 2024 Apr.
Article En | MEDLINE | ID: mdl-38357865

Vascular involvement in Behçet's disease (BD) occurs in up to 50% of patients. The main mechanism of thrombosis is inflammation. Thus, immunosuppressants (IS) are the mainstay of therapy, and adding anticoagulation (AC) is controversial. In daily practice, we observed that patients who received AC in combination with IS experienced less recurrent thrombosis and decided to investigate our BD patients retrospectively. We hypothesized that adding AC to immunosuppressive therapy may lower the risk of recurrent thrombosis. Treatment at the time of first or recurrent thrombotic events was recorded. Events under the only IS and IS + AC treatments were compared. There were 40 patients (33 males). The most common types of first vascular events were deep vein thrombosis (77.5%) followed by pulmonary embolism (PE) (52.5%). One patient did not receive any treatment. Among the 39 patients, 32 received glucocorticoid and at least one of the azathioprine, or cyclophosphamide, anti-TNF, 5 received monotherapy with azathioprine, 1 received monotherapy with corticosteroid, and the remaining 1 received monotherapy with cyclophosphamide. In total, 22 patients (55%) experienced 27 recurrent venous thromboembolism (VTE) events. Two (7.4%) events while only on AC, 2 (7.4%) events while on AC + IS, and 15 (55.5%) events occurred while on only IS. Eight (19.6%) patients were not receiving any treatment during relapses. The recurrence rate was statistically significantly lower in the IS + AC treatment group compared to IS alone. In conclusion, IS are the mainstay of treatment for BD, and adding AC may help to lower the recurrence risk of thrombotic events.


Behcet Syndrome , Thrombosis , Venous Thromboembolism , Venous Thrombosis , Male , Humans , Behcet Syndrome/complications , Behcet Syndrome/drug therapy , Behcet Syndrome/chemically induced , Venous Thrombosis/complications , Venous Thrombosis/drug therapy , Anticoagulants/therapeutic use , Azathioprine/therapeutic use , Retrospective Studies , Tumor Necrosis Factor Inhibitors/therapeutic use , Immunosuppressive Agents/therapeutic use , Venous Thromboembolism/chemically induced , Cyclophosphamide , Immunosuppression Therapy
6.
Photodiagnosis Photodyn Ther ; 46: 103988, 2024 Apr.
Article En | MEDLINE | ID: mdl-38368915

BACKGROUND: Examination of corneal densitometry measurements using the Pentacam Scheimpflug imaging system in cases of pseudoexfoliative glaucoma (PEXG) and ocular hypertension (OHT). METHODS: The study included 50 eyes of 29 PEXG patients, 25 eyes of 16 OHT patients, and 76 eyes of 38 healthy control subjects followed in the glaucoma clinic. Corneal densitometry values of all cases were measured using the Scheimpflug imaging system (Pentacam, Oculus, Germany). Corneal densitometry was assessed based on 4 concentric radial zones (0-2 mm, 2-6 mm, 6-10 mm, and 10-12 mm) and depths (anterior, central, posterior, and total) within the Scheimpflug imaging system. The results were statistically analyzed. RESULTS: Corneal densitometry values examined between the OHT and control groups were higher in OHT and statistically significant (p < 0.05). Corneal densitometry values examined between the PEXG and control groups were higher in PEXG and statistically significant (p < 0.05). In comparison between the PEXG and OHT groups, corneal densitometry values in the central 0-2 mm, 2-6 mm, and 6-10 mm; posterior 0-2 mm and 2-6 mm radial zones were higher in PEXG and statistically significant (p < 0.05). CONCLUSIONS: It was observed that elevated intraocular pressure levels in OHT cases could lead to changes in the cornea, consequently increasing corneal densitometry values. The higher corneal densitometry values in PEXG cases compared to OHT were attributed to the accumulation of pseudoexfoliative material in the cornea. Based on our study, corneal densitometry could serve as a potential biomarker for early glaucoma detection in OHT cases and could be employed to assess corneal transparency during the follow-up of PEXG cases.


Cornea , Densitometry , Exfoliation Syndrome , Ocular Hypertension , Humans , Densitometry/methods , Female , Cornea/diagnostic imaging , Ocular Hypertension/physiopathology , Ocular Hypertension/diagnosis , Male , Aged , Exfoliation Syndrome/physiopathology , Exfoliation Syndrome/diagnostic imaging , Middle Aged , Case-Control Studies
7.
Sarcoidosis Vasc Diffuse Lung Dis ; 40(4): e2023054, 2023 Dec 20.
Article En | MEDLINE | ID: mdl-38126508

INTRODUCTION: Sarcoidosis is a multi-system disease of unknown etiology characterized by non-caseating granulomatous inflammation. Determining the characteristics and prognosis of sarcoidosis cases and revealing the factors that may affect the prognosis are important for approach to patient. This study was planned to obtain prognosis data for our country and to determine the factors affecting the prognosis. PATIENTS AND METHODS: 188 patients, followed regularly for three years or more, admitted to Ankara University Faculty of Medicine, Department of Chest Diseases between 2012-2017 were evaluated retrospectively. Increased radiological findings, functional impairment and any of the clinical conditions requiring initiation/modification of treatment were accepted as progression. Clinical status of the patients at the last follow-up was defined as remission with treatment, spontaneous remission, stable disease, progression, chronic case and recurrence. Spontaneous remission and remission with treatment, regression, stable disease, and recurrence that followed without treatment and didn't cause symptom or functional impairment were accepted in good prognosis group. Progression, chronic cases that couldn't be followed without treatment and recurrence requiring treatment were included in poor prognosis group. RESULTS: 58% of patients was accepted in good prognosis and 42% had poor prognosis group. During follow-up, spontaneous remission rate was 20.2%, pulmonary hypertension development rate was 10.6% and mortality rate was 4.25%. Low radiological stage, high spirometry and diffusion capacity values, being asymptomatic and having no previous treatment were associated with spontaneous remission and good prognosis. Increase in serum angiotensin converting enzyme and C-reactive protein and decrease in spirometry parameters and diffusion capacity values were associated with progression.

8.
Tuberk Toraks ; 71(4): 367-377, 2023 Dec.
Article En | MEDLINE | ID: mdl-38152007

Introduction: Sarcoidosis is a multisystem granulomatous disease with an unpredictable clinical course. Chitotriosidase is a chitinase mainly expressed by activated macrophages. Increased chitotriosidase activity has been reported in serum and bronchoalveolar lavage (BAL) of sarcoidosis patients compared to healthy controls. This study aims to evaluate the role of serum and BAL chitotriosidase activity on diagnosis, disease characteristics, and prognosis of sarcoidosis. Materials and Methods: Patients referred with suspected sarcoidosis or other interstitial lung disease were prospectively included in the study. All patients underwent bronchoscopy with BAL. Serum and BAL chitotriosidase activity, BAL differential cell counts, and lymphocyte phenotypes were determined. Sarcoidosis patients were followed up regularly. Result: Forty-two sarcoidosis and 28 non-sarcoidosis patients were included in the study. Serum chitotriosidase activity was higher in sarcoidosis group 247.5 (2.78-461) vs 108 (2.78-272) nmol/h/mL (p< 0.001). BAL chitotriosidase activity tended to be higher in sarcoidosis group 11 (2-308) vs 6.95 (2.27-44) nmol/h/mg but was not found to be statistically significant (p= 0.11). Serum and BAL chitotriosidase activities were correlated with each other (p= 0.023, r= 0.355). No significant difference was found between the diagnostic performance of BAL CD4/CD8 ratio and serum chitotriosidase activity (p= 0.079). Serum chitotriosidase and ACE activities were correlated with each other (p= 0.004, r= 0.457). No significant difference was found between serum or BAL chitotriosidase activity and stage or extrapulmonary involvement. Serum chitotriosidase activity was higher in patients who needed systemic therapy at diagnosis (p= 0.046). However, no significant difference was found between serum or BAL chitotriosidase activities and disease progression (p= 0.395 and p= 0.723, respectively). Conclusions: Serum chitotriosidase activity can be helpful in the differential diagnosis of sarcoidosis with a similar diagnostic performance with BAL CD4/CD8 ratio. Although serum chitotriosidase activity at diagnosis does not predict progressive disease, it is associated with the need for systemic therapy at diagnosis. Serial chitotriosidase measurements may be useful in monitoring disease progression during follow-up.


Sarcoidosis, Pulmonary , Sarcoidosis , Humans , Bronchoalveolar Lavage Fluid , Sarcoidosis/diagnosis , Prognosis , Disease Progression , Sarcoidosis, Pulmonary/diagnosis , Bronchoalveolar Lavage
9.
Beyoglu Eye J ; 8(3): 170-176, 2023.
Article En | MEDLINE | ID: mdl-37766760

Objectives: The objective of the study is to evaluate the agreement between Goldmann applanation tonometer (GAT) and Easyton transpalpebral tonometer, Tonopen, and Icare in patients with Keratoconus. Methods: This cross-sectional study included 46 eyes of 26 patients with keratoconus. Intraocular pressure (IOP) is measured using easyton, icare, tonopen, and GAT. Measurements were compared and the influences of corneal topographic variables on IOP measurement were evaluated. Bland-Altman plots were used for assessing agreement between different tonometers. Results: The mean age of the participants was 24.08±6.76 (range, 18-47) years (15 males and 11 females). The highest of the mean IOP values measured with different tonometers was obtained with Easyton (12.33±1.65), followed by Tonopen (11.59±2.17), GAT (10.67±1.52), and Icare (10.04±2.33). The mean IOP value measured with Easyton was significantly higher than that measured with GAT (p<0.001). There was no significant difference between GAT and either Tonopen (p=0.154) or Icare measurements (p=0.732). There was no significant difference between Tonopen and Easyton measurements (p=0.421). Icare measurements were correlated with central corneal thickness and keratometric values. GAT measurements were correlated with only Kmax. Thirty-eight (82.6%) of the differences were within the agreement limits (assumed clinically important deviation of up to ±2 mmHg) of GAT and Tonopen, 73.9% (n=34) were within the agreement limits of GAT and Icare, and 78.3% (n=36) were within the agreement limits of GAT and Easyton. Conclusion: Compared with GAT, the gold standard method, Easyton IOP readings were higher, while both Tonopen and Icare readings were similar to GAT. All three tonometers showed acceptable agreement with the GAT, however, Tonopen showed the greatest agreement.

10.
Jpn J Ophthalmol ; 67(6): 678-684, 2023 Nov.
Article En | MEDLINE | ID: mdl-37596442

PURPOSE: To compare the differences in anterior segment parameters between eyes with primary angle closure (PAC) with and without gonioscopically-visualized ciliary body processes (CBP). STUDY DESIGN: Prospective, observational, comparative clinical study. METHODS: Detailed ocular examinations and gonioscopy were performed in 89 eyes of 89 patients with PAC to determine the visibility of the CBP. Anterior chamber depth (ACD), anterior chamber width, lens thickness (LT), lens vault (LV) and pupil diameter were determined using ultrasound biomicroscopy. The lens-axial length factor (LAF) and relative lens position (RLP) were calculated. All parameters were compared between eyes with and without gonioscopically visible CBP (PAC+CBP and PAC-CBP groups) after adjusting for age and gender. The association of the parameters with visible CBP was analyzed by univariate logistic regression analysis. RESULTS: PAC+CBP group included 41 eyes and the PAC-CBP group, 48 eyes. The axial length and ACD were statistically significantly smaller (p = 0.009 and p = 0.005, respectively) and LT, LV and LAF were statistically significantly greater (p = 0.03, p = 0.008 and p = 0.004, respectively) in the PAC+CBP group. In the PAC eyes with glaucoma, the LT, LV and LAF were statistically significantly greater in the PAC+CBP group (p = 0.02, p = 0.001 and p = 0.02, respectively). The LAF had the strongest association with visible CBP in the regression analysis (Odds ratio = 141.70, p = 0.002). CONCLUSION: Gonioscopical visualization of ciliary processes may suggest that anterior segment crowding, especially lens factor is the underlying mechanism in PAC. It may provide a practical gonioscopic examination method for predicting the predominant pathophysiology of PAC.


Glaucoma, Angle-Closure , Lens, Crystalline , Humans , Ciliary Body/diagnostic imaging , Prospective Studies , Intraocular Pressure , Glaucoma, Angle-Closure/diagnosis , Lens, Crystalline/diagnostic imaging , Gonioscopy , Anterior Eye Segment , Biometry , Tomography, Optical Coherence/methods
11.
Lasers Med Sci ; 38(1): 100, 2023 Apr 15.
Article En | MEDLINE | ID: mdl-37059933

To identify whether gonioscopic ciliary body visibility and factors including anterior chamber depth (ACD), axial length (AL), acute attack history, and preoperative intraocular pressure (IOP) had any effect on IOP decrease in primary angle closure (PAC) and primary angle-closure glaucoma (PACG) after phacoemulsification (PE) and/or laser peripheral iridotomy (LPI). This retrospective-design study was conducted with 81 eyes with PAC and PACG; 33 eyes whose IOP was controlled with LPI and PE constituted group 1, and 48 eyes whose IOP was controlled using LPI alone comprised group 2. The effects on preoperative and last-visit IOP levels, ciliary body visibility, ACD, AL, and acute attacks were analyzed. Eyes within the groups were similar in AL, ACD, and preoperative IOP except for acute attack history, which was found to be higher in group 1. For group 1, none of the factors was found to have a differentiative effect on IOP decrease after PE, except eyes with preoperative IOP > 21 mm Hg, which had significantly more IOP reduction. For group 2, no difference was found in ciliary body visibility, and higher or lower ACD. However, eyes with AL ≥ 22 mm, positive acute attack history, and higher preoperative IOP were associated with significantly better IOP reduction. We found no relationship between ciliary body visibility and an IOP-reducing effect of PE and LPI. Although we found PE effective in IOP reduction in all eyes, we determined LPI to have a lesser IOP-reducing effect in eyes with IOP ≤ 21 mm Hg and AL < 22 mm.


Glaucoma, Angle-Closure , Laser Therapy , Phacoemulsification , Humans , Intraocular Pressure , Retrospective Studies , Iridectomy , Glaucoma, Angle-Closure/surgery , Iris/surgery , Lasers
12.
Ophthalmic Genet ; 44(5): 491-495, 2023 10.
Article En | MEDLINE | ID: mdl-36946373

PURPOSE: Ocular involvement has been shown in many of the primary mitochondrial diseases. Herein, we report a pediatric case of an extraordinary fundus appearance of bilateral plaque-like macular atrophy and hypopigmented flecks with homozygous MFF gene mutation. METHODS: A case report. RESULTS: An eighteen-month-old male infant presented with a lack of object tracking which was recognized in the last few months. Along with regression in normal development, myoclonic epilepsy signs and encephalomyelopathy were detected. Therefore, the patient was evaluated for mitochondrial diseases. Fundus examination revealed bilateral fine hypopigmented lesions in retinal pigment epithelium at midperiphery and periphery. Additionally, there was bilateral geographic atrophy that was separated from the adjacent normal retina with distinct borders in the fovea. Homozygous pT198A (c.592A>G) missense variation was detected in the MFF gene. CONCLUSION: Maculopathy could be encountered in patients with MFF gene variation. Specific variants or some undiscovered genomic mutations may be the reason for this novel clinical appearance.


Geographic Atrophy , Macular Degeneration , Retinitis Pigmentosa , Humans , Male , Infant , Child , Mutation, Missense , Macular Degeneration/genetics , Retina/pathology , Retinitis Pigmentosa/pathology , Geographic Atrophy/pathology , Mutation , Atrophy , Fluorescein Angiography , Tomography, Optical Coherence
13.
Nanomaterials (Basel) ; 13(4)2023 Feb 13.
Article En | MEDLINE | ID: mdl-36839080

Ternary PANI@Bi2O3-BiOCl nanocomposites were successfully synthesized during the oxidative polymerization of aniline monomer in the presence of Bi2O3. PANI@Bi2O3-BiOCl nanocomposites were characterized by several analytical techniques, including X-ray diffraction (XRD), Fourier Transform Infrared spectroscopy (FTIR), N2 physisorption, UV-Vis Diffuse reflectance spectroscopy (DRS), X-ray photoelectron spectroscopy (XPS), transmission electron microscopy (TEM), and scanning electron microscopy with energy dispersive spectroscopy (SEM-EDS). The effective PANI-semiconductor interaction promotes the fast separation and transfer of photogenerated electrons and holes, enhancing the photocatalytic efficiency of the materials towards methylene blue (MB) degradation under solar light irradiation. The best results were obtained by 0.5%PANI@Bi2O3-BiOCl, leading to 80% MB degradation in 2 h, four times higher than pristine Bi2O3-BiOCl. Moreover, 0.5%PANI@Bi2O3-BiOCl maintained stable photocatalytic performances for four cycles without significant activity loss. Various scavengers (isopropyl alcohol, formic acid, and benzoquinone) were used to identify the active species by trapping holes and radicals generated during the photocatalytic degradation process. Finally, a probable photocatalytic mechanism of PANI@Bi2O3-BiOCl photocatalyst was suggested.

14.
Polymers (Basel) ; 15(4)2023 Feb 09.
Article En | MEDLINE | ID: mdl-36850143

Plastics are engineering marvels that have found widespread use in all aspects of modern life. However, poor waste management practices and inefficient recycling technologies, along with their extremely high durability, have caused one of the major environmental problems facing humankind: waste plastic pollution. The upcycling of waste plastics to chemical feedstock to produce virgin plastics has emerged as a viable option to mitigate the adverse effects of plastic pollution and close the gap in the circular economy of plastics. Pyrolysis is considered a chemical recycling technology to upcycle waste plastics. Yet, whether pyrolysis as a stand-alone technology can achieve true circularity or not requires further investigation. In this study, we analyzed and critically evaluated whether oil obtained from the non-catalytic pyrolysis of virgin polypropylene (PP) can be used as a feedstock for naphtha crackers to produce olefins, and subsequently polyolefins, without undermining the circular economy and resource efficiency. Two different pyrolysis oils were obtained from a pyrolysis plant and compared with light and heavy naphtha by a combination of physical and chromatographic methods, in accordance with established standards. The results demonstrate that pyrolysis oil consists of mostly cyclic olefins with a bromine number of 85 to 304, whereas light naphtha consists of mostly paraffinic hydrocarbons with a very low olefinic content and a bromine number around 1. Owing to the compositional differences, pyrolysis oil studied herein is completely different than naphtha in terms of hydrocarbon composition and cannot be used as a feedstock for commercial naphtha crackers to produce olefins. The findings are of particular importance to evaluating different chemical recycling opportunities with respect to true circularity and may serve as a benchmark to determine whether liquids obtained from different polyolefin recycling technologies are compatible with existing industrial steam crackers' feedstock.

15.
Ophthalmic Genet ; 44(1): 70-73, 2023 02.
Article En | MEDLINE | ID: mdl-35930384

PURPOSE: SOFT syndrome is an extremely rare inherited dwarfism syndrome. The syndrome has four major clinical manifestations: short stature, onychodysplasia, facial dysmorphism, and hypotrichosis. Herein, we report a unique case of a SOFT syndrome with findings of pigmentary retinopathy. METHODS: Case report. RESULTS: A 3-year boy was referred to our clinic for ophthalmologic examination from Genetic Diseases Diagnosis Center. In ophthalmic examination, anterior segment was normal bilaterally in biomicroscopy. Fundus examination revealed bilateral yellow-white punctate retinal pigment epithelium lesions located in the midperipheral retina. Macula optical coherence tomography was bilaterally normal. Whole exome sequencing (WES) analysis revealed a homozygous intronic splice site variant (c.103 + 1 G>T) in POC1A, hemizygous intronic splice site variant (c.459-5T>A) in TBX22, and a heterozygous missense variant (c.2254 C>T) in DDR2 genes. CONCLUSION: There is a limited number of reported cases with SOFT syndrome and, though retinal findings in SOFT syndrome have been reported in two cases previously, none were given in detail. According to our findings, perivascular and macula sparing midperipheral retina pigment epithelium changes could be observed in patients with SOFT syndrome.


Dwarfism , Hypotrichosis , Retinitis Pigmentosa , Male , Humans , Cell Cycle Proteins/genetics , Cytoskeletal Proteins/genetics , Hypotrichosis/genetics , Dwarfism/genetics , Tomography, Optical Coherence
16.
J AAPOS ; 26(6): 309.e1-309.e5, 2022 12.
Article En | MEDLINE | ID: mdl-36283600

BACKGROUND: The Postnatal Growth and Retinopathy of Prematurity (G-ROP) Study showed that adding postnatal weight gain to birth weight and gestational age detected 100% of cases with type 1 retinopathy of prematurity (ROP) while reducing the ROP examinations by 30%. The purpose of this study was to investigate whether being small for gestational age (SGA) affects the sensitivity and specificity of the G-ROP model. METHODS: We applied the G-ROP criteria for premature infants. The infants were classified as three subgroups: SGA, appropriate for gestational age (AGA), and large for gestational age (LGA). The performance of G-ROP criteria was assessed for each group for ROP. RESULTS: There were 41 (10.5%) SGA, 312 (80%) AGA, and 37 (9.5%) LGA neonates. Twenty-six (6.7%) neonates were treated for ROP, and the G-ROP model identified all of them. The sensitivity of the model for treatment-requiring ROP (TR-ROP) was found to be 100% in the whole patient group and for each subgroup. The specificity for TR-ROP was 46.4% for the whole group, 50% for SGA, 44% for AGA, and 63.6% for LGA. By applying the G-ROP model, the number of ROP examinations could be reduced by 25% for the whole group, 27% for SGA, 24% for AGA, and 31% for LGA, without missing TR-ROP. CONCLUSIONS: The sensitivity and specificity of the G-ROP model for TR-ROP in SGA infants were similar to the whole group. The model did not miss any cases of TR-ROP.


Retinopathy of Prematurity , Infant, Newborn , Infant , Humans , Retinopathy of Prematurity/diagnosis , Retinopathy of Prematurity/therapy , Birth Weight , Risk Factors , Retrospective Studies , Infant, Premature , Gestational Age , Weight Gain , Neonatal Screening
18.
Eur J Ophthalmol ; 32(6): 3556-3563, 2022 Nov.
Article En | MEDLINE | ID: mdl-35243922

OBJECTIVE: To evaluate changes in retrobulbar ocular blood flow parameters by using Colour Doppler Imaging (CDI) and changes in foveal microvasculature by using Optical Coherence Tomography Angiography (OCTA) in pediatric obese patients and to compare them with a group of healthy children. METHODS: Children diagnosed with obesity without hypertension and diabetes (39 subjects, obese group) and age-matched healthy controls (26 subjects, control group) underwent CDI and OCTA imaging. Peak systolic velocity, end-diastolic velocity and resistivity index from ophthalmic, central retinal and posterior ciliary arteries on CDI; superficial and deep capillary plexus vascular density and foveal avascular zone area on OCTA imaging were obtained in each group. Central foveal and subfoveal choroidal thicknesses were also measured. CDI and OCTA parameters were compared between two groups. RESULTS: Peak systolic and end-diastolic velocities were found to be significantly lower in obese children than in controls in all three examined arteries (p < 0.05). Resistivity index values were similar between the groups. OCTA imaging did not reveal significant changes in superficial and deep capillary plexus vascular densities and foveal avascular zone area across analysed retinal regions between the groups. Subfoveal choroid was thicker in obese group than in control group (325.89 ± 52.77 µm vs. 304.52 ± 21.76 µm, p = 0.04). CONCLUSION: An apparent decrease was present in retrobulbar hemodynamics in obese children. This arises the possibility of early ocular macrovascular compromise rather than retinal microvascular impairment in childhood obesity.


Pediatric Obesity , Retinal Vessels , Child , Fluorescein Angiography/methods , Hemodynamics , Humans , Microvessels , Pediatric Obesity/complications , Retina , Tomography, Optical Coherence/methods
19.
Scott Med J ; 67(1): 18-27, 2022 Feb.
Article En | MEDLINE | ID: mdl-35147461

BACKGROUND: Guidelines recommend performing biomarker tests for epidermal growth factor receptor (EGFR), anaplastic lymphoma kinase (ALK), BRAF and ROS proto-oncogene-1(ROS1) genes and protein expression of programmed death ligand-1(PD-L1) in patients with non-small lung cell carcinoma (NSCLC). Studies reported that endobronchial ultrasound-transbronchial needle aspiration (EBUS-TBNA) can provide sufficient material for cancer biomarker analyses, but there are still concerns about the subject. AIM: The purpose of the study was to assess the adequacy of EBUS-TBNA for testing lung cancer biomarkers. METHODS: We retrospectively reviewed patients with NSCLC whose EBUS-TBNA was analysed for EGFR, ALK, ROS-1, BRAF and PD-L1 expression between December 2011 and December 2020. RESULTS: A total of 394 patients were enrolled in the study. EGFR mutation and ALK fusion were the most common studied biomarkers. EBUS-TBNA adequacy rate for biomarker tests was found 99.0% for EGFR, 99.1 for ALK, 97.2% for ROS1, 100% for BRAF and 99.3% for PD-L1 testing. Multivariate analysis revealed the histological type, history of treatment for NSCL, size, or 18-fluorodeoxyglucose uptake of sampled lesion did not show any association with TBNA adequacy for biomarker testing. CONCLUSION: EBUS-TBNA can provide adequate material for biomarker testing for EGFR, ALK, ROS-1, BRAF and PD-L1 expression.


Carcinoma, Non-Small-Cell Lung , Lung Neoplasms , B7-H1 Antigen/genetics , B7-H1 Antigen/metabolism , Biomarkers, Tumor/metabolism , Carcinoma, Non-Small-Cell Lung/genetics , Carcinoma, Non-Small-Cell Lung/metabolism , Carcinoma, Non-Small-Cell Lung/pathology , Endoscopic Ultrasound-Guided Fine Needle Aspiration , ErbB Receptors/genetics , Humans , Lung/metabolism , Lung/pathology , Lung Neoplasms/pathology , Protein-Tyrosine Kinases , Proto-Oncogene Proteins/genetics , Proto-Oncogene Proteins B-raf/genetics , Reactive Oxygen Species , Retrospective Studies
20.
Eur J Ophthalmol ; 32(6): 3281-3288, 2022 Nov.
Article En | MEDLINE | ID: mdl-35191353

PURPOSE: To define late-stage fluorescein angiography (FA) findings in patients who received anti-vascular endothelial growth factor (VEGF) agents (intravitreal bevacizumab or aflibercept) as a treatment for stage 3 retinopathy of prematurity (ROP) in zone II. We also compared the findings of untreated eyes. METHOD: Infants with a history of ROP who underwent fluorescein angiography were evaluated retrospectively. The patients were divided into 2 groups: those who received anti-VEGF treatment and those who regressed spontaneously without treatment. Vascular abnormalities, such as vascular leakage, shunts at the vascular-avascular junction, periarteriolar areas with hypoperfusion, fine branching and blunt termination of the vessels and, were recorded. RESULTS: Angiography evaluations revealed leakage in the eyes of 27.69% of the infants in the anti-VEGF-treated group and in 21.7% of the untreated group (p = .638). Among the abnormal vascular findings in the peripheral retina, the ratios of fine branching and blunt termination, numbers of shunts along the vascular-avascular junction, and sizes of periarteriolar areas of hypoperfusion were significantly larger in the untreated group than in the treated group (p < .05; p < .01). The gestational ages and birth weights were significantly lower (p ≤ .05) in infants with vascular findings in both groups. CONCLUSION: Vascular abnormalities in the peripheral retina are likely due to the ROP itself. Although these abnormalities were detected by FA imaging in both treated and untreated infants with ROP, they were significantly less frequent in patients treated with anti-VEGF, indicating that anti-VEGF treatments have a partially positive effect on the retinal vascularization process.


Retinopathy of Prematurity , Angiogenesis Inhibitors/therapeutic use , Bevacizumab/therapeutic use , Endothelial Growth Factors/therapeutic use , Fluorescein Angiography/methods , Gestational Age , Humans , Infant , Infant, Newborn , Intravitreal Injections , Retinopathy of Prematurity/diagnosis , Retinopathy of Prematurity/drug therapy , Retrospective Studies
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