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1. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Author

Sheppard, S.E., Bryant, L., Wickramasekara, R.N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C.J., Faundes, V., Duffourd, Y., Lee, P., Simon, M.C., Cruz, X. de la, Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Pellegrino Da Silva, R., Li, D., March, M., Diaz-Rosado, A., Peixoto de Barcelos, I., Choa, Z.X., Lim, C.Y., Dubourg, C., Journel, H., Demurger, F., Mulhern, M., Akman, C., Lippa, N., Andrews, M., Baldridge, D., Constantino, J., Haeringen, A. van, Snoeck-Streef, I., Chow, P., Hing, A., Graham Jr, J.M., Au, M., Faivre, L., Shen, W., Mao, R., Palumbos, J., Viskochil, D., Gahl, W., Tifft, C., Macnamara, E., Hauser, N., Miller, R., Maffeo, J., Afenjar, A., Doummar, D., Keren, B., Arn, P., Macklin-Mantia, S., Meerschaut, I., Callewaert, B., Reis, A., Zweier, C., Brewer, C., Saggar, A., Smeland, M.F., Kumar, Ajith, Elmslie, F., Deshpande, C., Nizon, M., Cogne, B., Ierland, Y. van, Wilke, M., Slegtenhorst, M. van, Koudijs, S., Chen, J.Y., Dredge, D., Pier, D., Wortmann, S.B., Kamsteeg, E.J., Koch, J., Haynes, D., Pollack, L., Titheradge, H., Ranguin, K., Denommé-Pichon, A.S., Weber, S., Perez de la Fuente, R., Sanchez Del Pozo, J., Lezana Rosales, J.M., Joset, P., Steindl, K., Rauch, A., Mei, D., Mari, F., Guerrini, R., Lespinasse, J., Tran Mau-Them, F., Philippe, C., Dauriat, B., Raymond, L., Moutton, S., Cueto-González, A.M., Tan, T.Y., Mignot, C., Grotto, S., Renaldo, F., Drivas, T.G., Hennessy, L., Raper, A., Parenti, I., Kaiser, F.J., Kuechler, A., Busk, Ø.L., Islam, L., Siedlik, J.A., Henderson, L.B., Juusola, J., Person, R., Schnur, R.E., Vitobello, A., Banka, S., Bhoj, E.J., Stessman, H.A.F., Sheppard, S.E., Bryant, L., Wickramasekara, R.N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C.J., Faundes, V., Duffourd, Y., Lee, P., Simon, M.C., Cruz, X. de la, Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Pellegrino Da Silva, R., Li, D., March, M., Diaz-Rosado, A., Peixoto de Barcelos, I., Choa, Z.X., Lim, C.Y., Dubourg, C., Journel, H., Demurger, F., Mulhern, M., Akman, C., Lippa, N., Andrews, M., Baldridge, D., Constantino, J., Haeringen, A. van, Snoeck-Streef, I., Chow, P., Hing, A., Graham Jr, J.M., Au, M., Faivre, L., Shen, W., Mao, R., Palumbos, J., Viskochil, D., Gahl, W., Tifft, C., Macnamara, E., Hauser, N., Miller, R., Maffeo, J., Afenjar, A., Doummar, D., Keren, B., Arn, P., Macklin-Mantia, S., Meerschaut, I., Callewaert, B., Reis, A., Zweier, C., Brewer, C., Saggar, A., Smeland, M.F., Kumar, Ajith, Elmslie, F., Deshpande, C., Nizon, M., Cogne, B., Ierland, Y. van, Wilke, M., Slegtenhorst, M. van, Koudijs, S., Chen, J.Y., Dredge, D., Pier, D., Wortmann, S.B., Kamsteeg, E.J., Koch, J., Haynes, D., Pollack, L., Titheradge, H., Ranguin, K., Denommé-Pichon, A.S., Weber, S., Perez de la Fuente, R., Sanchez Del Pozo, J., Lezana Rosales, J.M., Joset, P., Steindl, K., Rauch, A., Mei, D., Mari, F., Guerrini, R., Lespinasse, J., Tran Mau-Them, F., Philippe, C., Dauriat, B., Raymond, L., Moutton, S., Cueto-González, A.M., Tan, T.Y., Mignot, C., Grotto, S., Renaldo, F., Drivas, T.G., Hennessy, L., Raper, A., Parenti, I., Kaiser, F.J., Kuechler, A., Busk, Ø.L., Islam, L., Siedlik, J.A., Henderson, L.B., Juusola, J., Person, R., Schnur, R.E., Vitobello, A., Banka, S., Bhoj, E.J., and Stessman, H.A.F.

Abstract

Item does not contain fulltext, Pathogenic variants in KMT5B, a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788). Given the relatively recent discovery of this disorder, it has not been fully characterized. Deep phenotyping of the largest (n = 43) patient cohort to date identified that hypotonia and congenital heart defects are prominent features that were previously not associated with this syndrome. Both missense variants and putative loss-of-function variants resulted in slow growth in patient-derived cell lines. KMT5B homozygous knockout mice were smaller in size than their wild-type littermates but did not have significantly smaller brains, suggesting relative macrocephaly, also noted as a prominent clinical feature. RNA sequencing of patient lymphoblasts and Kmt5b haploinsufficient mouse brains identified differentially expressed pathways associated with nervous system development and function including axon guidance signaling. Overall, we identified additional pathogenic variants and clinical features in KMT5B-related neurodevelopmental disorder and provide insights into the molecular mechanisms of the disorder using multiple model systems.

Published
2023

2. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Author

Palmer, E.E., Pusch, M., Picollo, A., Forwood, C., Nguyen, M.H., Suckow, V., Gibbons, J., Hoff, A., Sigfrid, L., Megarbane, A., Nizon, M., Cogné, B., Beneteau, C., Alkuraya, F.S., Chedrawi, A., Hashem, M.O., Stamberger, H., Weckhuysen, S., Vanlander, A., Ceulemans, B., Rajagopalan, S., Nunn, K., Arpin, S., Raynaud, M., Motter, C.S., Ward-Melver, C., Janssens, K., Meuwissen, M., Beysen, D., Dikow, N., Grimmel, M., Haack, T.B., Clement, E., McTague, A., Hunt, D., Townshend, S., Ward, M., Richards, L.J., Simons, C., Costain, G., Dupuis, L., Mendoza-Londono, R., Dudding-Byth, T., Boyle, J., Saunders, C., Fleming, E., Chehadeh, S. El, Spitz, M.A., Piton, A., Gerard, B., bi Warde, M.T. A, Rea, G., McKenna, C., Douzgou, S., Banka, S., Akman, C., Bain, J.M., Sands, T.T., Wilson, G.N., Silvertooth, E.J., Miller, L., Lederer, D., Sachdev, R., Macintosh, R., Monestier, O., Karadurmus, D., Collins, F., Carter, M., Rohena, L., Willemsen, M.H., Ockeloen, C.W., Pfundt, R.P., Kroft, S.D., Field, M., Laranjeira, F.E.R., Fortuna, A.M., Soares, A.R., Michaud, V., Naudion, S., Golla, S., Weaver, D.D., Bird, L.M., Friedman, J., Clowes, V., Joss, S., Pölsler, L., Campeau, P.M., Blazo, M., Bijlsma, E.K., Rosenfeld, J.A., Beetz, C., Powis, Z., McWalter, K., Brandt, T., Torti, E., Mathot, M., Mohammad, S.S., Armstrong, R., Kalscheuer, V.M., Palmer, E.E., Pusch, M., Picollo, A., Forwood, C., Nguyen, M.H., Suckow, V., Gibbons, J., Hoff, A., Sigfrid, L., Megarbane, A., Nizon, M., Cogné, B., Beneteau, C., Alkuraya, F.S., Chedrawi, A., Hashem, M.O., Stamberger, H., Weckhuysen, S., Vanlander, A., Ceulemans, B., Rajagopalan, S., Nunn, K., Arpin, S., Raynaud, M., Motter, C.S., Ward-Melver, C., Janssens, K., Meuwissen, M., Beysen, D., Dikow, N., Grimmel, M., Haack, T.B., Clement, E., McTague, A., Hunt, D., Townshend, S., Ward, M., Richards, L.J., Simons, C., Costain, G., Dupuis, L., Mendoza-Londono, R., Dudding-Byth, T., Boyle, J., Saunders, C., Fleming, E., Chehadeh, S. El, Spitz, M.A., Piton, A., Gerard, B., bi Warde, M.T. A, Rea, G., McKenna, C., Douzgou, S., Banka, S., Akman, C., Bain, J.M., Sands, T.T., Wilson, G.N., Silvertooth, E.J., Miller, L., Lederer, D., Sachdev, R., Macintosh, R., Monestier, O., Karadurmus, D., Collins, F., Carter, M., Rohena, L., Willemsen, M.H., Ockeloen, C.W., Pfundt, R.P., Kroft, S.D., Field, M., Laranjeira, F.E.R., Fortuna, A.M., Soares, A.R., Michaud, V., Naudion, S., Golla, S., Weaver, D.D., Bird, L.M., Friedman, J., Clowes, V., Joss, S., Pölsler, L., Campeau, P.M., Blazo, M., Bijlsma, E.K., Rosenfeld, J.A., Beetz, C., Powis, Z., McWalter, K., Brandt, T., Torti, E., Mathot, M., Mohammad, S.S., Armstrong, R., and Kalscheuer, V.M.

Abstract

01 februari 2023, Item does not contain fulltext, Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant databases we assembled a database of 90 rare CLCN4 missense variants in 90 families: 41 unique and 18 recurrent variants in 49 families. For 43 families, including 22 males and 33 females, we collated detailed clinical and segregation data. To confirm causality of variants and to obtain insight into disease mechanisms, we investigated the effect on electrophysiological properties of 59 of the variants in Xenopus oocytes using extended voltage and pH ranges. Detailed analyses revealed new pathophysiological mechanisms: 25% (15/59) of variants demonstrated LOF, characterized by a "shift" of the voltage-dependent activation to more positive voltages, and nine variants resulted in a toxic gain-of-function, associated with a disrupted gate allowing inward transport at negative voltages. Functional results were not always in line with in silico pathogenicity scores, highlighting the complexity of pathogenicity assessment for accurate genetic counselling. The complex neurocognitive and psychiatric manifestations of this condition, and hitherto under-recognized impacts on growth, gastrointestinal function, and motor control are discussed. Including published cases, we summarize features in 122 individuals from 67 families with CLCN4-related neurodevelopmental condition and suggest future research directions with the aim of improving the integrated care for individuals with this diagnosis.

Published
2023

4. Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

Author

Klepper, J. Akman, C. Armeno, M. Auvin, S. Cervenka, M. Cross, H.J. De Giorgis, V. Della Marina, A. Engelstad, K. Heussinger, N. Kossoff, E.H. Leen, W.G. Leiendecker, B. Monani, U.R. Oguni, H. Neal, E. Pascual, J.M. Pearson, T.S. Pons, R. Scheffer, I.E. Veggiotti, P. Willemsen, M. Zuberi, S.M. De Vivo, D.C.

Abstract

Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is facilitated by a family of proteins including glucose transporter type 1 (Glut1). Patients are treated effectively with ketogenic diet therapies (KDT) that provide a supplemental fuel, namely ketone bodies, for brain energy metabolism. The increasing complexity of Glut1DS, since its original description in 1991, now demands an international consensus statement regarding diagnosis and treatment. International experts (n = 23) developed a consensus statement utilizing their collective professional experience, responses to a standardized questionnaire, and serial discussions of wide-ranging issues related to Glut1DS. Key clinical features signaling the onset of Glut1DS are eye-head movement abnormalities, seizures, neurodevelopmental impairment, deceleration of head growth, and movement disorders. Diagnosis is confirmed by the presence of these clinical signs, hypoglycorrhachia documented by lumbar puncture, and genetic analysis showing pathogenic SLC2A1 variants. KDT represent standard choices with Glut1DS-specific recommendations regarding duration, composition, and management. Ongoing research has identified future interventions to restore Glut1 protein content and function. Clinical manifestations are influenced by patient age, genetic complexity, and novel therapeutic interventions. All clinical phenotypes will benefit from a better understanding of Glut1DS natural history throughout the life cycle and from improved guidelines facilitating early diagnosis and prompt treatment. Often, the presenting seizures are treated initially with antiseizure drugs before the cause of the epilepsy is ascertained and appropriate KDT are initiated. Initial drug treatment fails to treat the underlying metabolic disturbance during early brain development, contributing to the long-term disease burden. Impaired development of the brain microvasculature is one such complication of delayed Glut1DS treatment in the postnatal period. This international consensus statement should facilitate prompt diagnosis and guide best standard of care for Glut1DS throughout the life cycle. © 2020 The Authors. Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.

Published
2020

5. Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

Author

Klepper, J, Akman, C, Armeno, M, Auvin, S, Cervenka, M, Cross, HJ, De Giorgis, V, Della Marina, A, Engelstad, K, Heussinger, N, Kossoff, EH, Leen, WG, Leiendecker, B, Monani, UR, Oguni, H, Neal, E, Pascual, JM, Pearson, TS, Pons, R, Scheffer, IE, Veggiotti, P, Willemsen, M, Zuberi, SM, De Vivo, DC, Klepper, J, Akman, C, Armeno, M, Auvin, S, Cervenka, M, Cross, HJ, De Giorgis, V, Della Marina, A, Engelstad, K, Heussinger, N, Kossoff, EH, Leen, WG, Leiendecker, B, Monani, UR, Oguni, H, Neal, E, Pascual, JM, Pearson, TS, Pons, R, Scheffer, IE, Veggiotti, P, Willemsen, M, Zuberi, SM, and De Vivo, DC

Abstract

Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is facilitated by a family of proteins including glucose transporter type 1 (Glut1). Patients are treated effectively with ketogenic diet therapies (KDT) that provide a supplemental fuel, namely ketone bodies, for brain energy metabolism. The increasing complexity of Glut1DS, since its original description in 1991, now demands an international consensus statement regarding diagnosis and treatment. International experts (n = 23) developed a consensus statement utilizing their collective professional experience, responses to a standardized questionnaire, and serial discussions of wide-ranging issues related to Glut1DS. Key clinical features signaling the onset of Glut1DS are eye-head movement abnormalities, seizures, neurodevelopmental impairment, deceleration of head growth, and movement disorders. Diagnosis is confirmed by the presence of these clinical signs, hypoglycorrhachia documented by lumbar puncture, and genetic analysis showing pathogenic SLC2A1 variants. KDT represent standard choices with Glut1DS-specific recommendations regarding duration, composition, and management. Ongoing research has identified future interventions to restore Glut1 protein content and function. Clinical manifestations are influenced by patient age, genetic complexity, and novel therapeutic interventions. All clinical phenotypes will benefit from a better understanding of Glut1DS natural history throughout the life cycle and from improved guidelines facilitating early diagnosis and prompt treatment. Often, the presenting seizures are treated initially with antiseizure drugs before the cause of the epilepsy is ascertained and appropriate KDT are initiated. Initial drug treatment fails to treat the underlying metabolic disturbance during early brain development, contributing to the long-term disease burden. Im

Published
2020

9. Supplementary Material for: Progression of Coronary Artery Calcification in Living Kidney Donors: A Follow-Up Study

Author

Alagoz, S., Cebi, D., Akman, C., Altiparmak, M.R., Serdengecti, K., and Seyahi, N.

Subjects
endocrine system diseases, cardiovascular system, population characteristics, nutritional and metabolic diseases, cardiovascular diseases
Abstract

Background: Data on the long-term mortality and morbidity of living kidney donors are scarce. In the general population, coronary artery calcification (CAC) and progression of CAC are predictors of future cardiac risk. We conducted a study to determine the progression of CAC in renal transplant donors. Methods: We used multidetector computed tomography to examine CAC in 75 former renal transplant donors. A baseline and a follow-up scan were performed and changes in CAC scores were evaluated in each subject individually to calculate the incidence of CAC progression. Results: Baseline CAC prevalence was 16% and the mean CAC score was 5.3 ± 25.8. At the follow-up scan that was performed after an average of 4.8 ± 0.3 years, CAC prevalence increased to 72% and the mean CAC score to 12.5 ± 23.4. Progression of the individual CAC score was found between 18.7 and 26.7%, depending on the method used to define progression. In patients with baseline CAC, the mean annualized rate of CAC progression was 2.1. Presence of hypertension, high systolic blood pressure and an increase in BMI were the determinants of CAC progression. Conclusions: The rate of CAC progression does not seem to be high in carefully selected donors.

Published
2017
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12. First imported coccidioidomycosis in Turkey: A potential health risk for laboratory workers outside endemic areas

Author

Universitat Rovira i Virgili, Kantarcioglu A; Sandoval-Denis M; Aygun G; Kiraz N; Akman C; Apaydin H; Karaman E; Guarro J; De Hoog G; Gurel M, Universitat Rovira i Virgili, and Kantarcioglu A; Sandoval-Denis M; Aygun G; Kiraz N; Akman C; Apaydin H; Karaman E; Guarro J; De Hoog G; Gurel M

Abstract

Coccidioidomycosis caused by Coccidioides immitis or Coccidioides posadasii is endemic in arid climate zones in America, travel-related cases have been reported. We report the first documented case of coccidioidomycosis in Turkey, overviewing reported cases in Europe and underlying difficulties of differential diagnosis outside endemic regions. The patient was an otherwise healthy 41-year-old man who travelled endemic areas. Laboratory diagnosis was based on direct microscopy of two subsequent subcutaneous biopsy specimens and culture and confirmed molecularly. Laboratory personnel should become aware that BioSafety Level-3 organisms may become more frequent and widespread. © 2014 International Society for Human and Animal Mycology.

Published
2014

26. CNS involvement in neuro-Behcet syndrome: An MR study

Author

Koçer, N., Islak, C., Aksel Siva, Saip, S., Akman, C., Kantarci, O., and Hamuryudan, V.

Subjects
Adult, Male, Spinal Cord, Behcet Syndrome, Brain, Humans, Brain Edema, Female, Optic Nerve, Diencephalon, Magnetic Resonance Imaging, Brain Stem
Abstract

BACKGROUND AND PURPOSE: Behçet disease (BD) is a multisystem vasculitis of unknown origin in which neurologic involvement has been reported in the range of 5% to 10% in large series. Reports on clinical and radiologic aspects of neuro-Behçet syndrome (NBS) are in general limited in number. Our purpose was to determine the MR patterns in patients with NBS who had neural parenchymal involvement and to correlate our findings with possible vascular pathophysiology. METHODS: The MR images of 65 patients with NBS and neural parenchymal involvement were reviewed. In a subgroup of patients who had serial MR studies, we evaluated the anatomic-radiologic location and distribution of the lesions and whether they corresponded to any vascular territory, and studied their extension, enhancement patterns, and temporal course. RESULTS: The most common imaging finding in NBS patients who had neural parenchymal involvement was a mesodiencephalic junction lesion with edema extending along certain long tracts in the brain stem and diencephalon in 46% of the patients. The next most common location of involvement was the pontobulbar region, seen in 40% of the cases. Three primary cervical spinal cord lesions and one case of isolated optic nerve involvement were observed. CONCLUSION: The parenchymal distribution of lesions in NBS appears to support the hypothesis of small-vessel vasculitis; mainly, venular involvement. The anatomic distribution of intraaxial veins of the CNS explains the predominant involvement of the brain stem structures observed in our patients. This pattern of lesion distribution might help to differentiate NBS from other vasculitides as well as from the inflammatory-demyelinating diseases of the CNS, such as multiple sclerosis.

29. Postpartum-onset obsessive-compulsive disorder: incidence, clinical features, and related factors

Author

Ali Savaş Çilli, Cemal Akman, Faruk Uguz, Nazmiye Kaya, Uguz, F, Akman, C, Kaya, N, Cilli, AS, Sakarya Üniversitesi/Tıp Fakültesi/Dahili Tıp Bilimleri Bölümü, and Çilli, Ali Savaş

Subjects
Adult, medicine.medical_specialty, Pediatrics, Obsessive-Compulsive Disorder, behavioral disciplines and activities, Risk Factors, mental disorders, Epidemiology, medicine, Childbirth, Outpatient clinic, Humans, Psychiatry, reproductive and urinary physiology, Public health, Incidence (epidemiology), Incidence, Postpartum Period, Case-control study, medicine.disease, Personality disorders, female genital diseases and pregnancy complications, Psychiatry and Mental health, Case-Control Studies, Female, Psychology, Anxiety disorder
Abstract

Objective The aims of this study were to investigate the incidence rate and symptomatology of postpartum-onset obsessive-compulsive disorder (PPOCD), to investigate the factors associated with PPOCD, and to compare clinical characteristics of obsessive-compulsive disorder (OCD) with and without postpartum onset. Method The study data were collected from 302 women who delivered at a child and maternity hospital in Turkey from August 2005 to November 2005 and a control group of 33 women who were admitted to the psychiatric outpatient clinic of a university hospital during the same time period and who met DSM-IV criteria for OCD. The 2 clinical interviews with women who delivered were performed face-to-face on the first day after childbirth and at 6 weeks postnatally. OCD and comorbid Axis II disorders were diagnosed by means of the Structured Clinical Interview for DSM-IV and the Structured Clinical Interview for DSM-III-R Personality Disorders, respectively. Obsessive-compulsive symptomatology was assessed with the Yale-Brown Obsessive Compulsive Scale. Results The incidence of PPOCD was 4% at 6 weeks postnatally. The most common obsessions in women with PPOCD were contamination (75%), aggressive (33.3%), and symmetry/exactness (33.3%), and the most common compulsions were cleaning/ washing (66.7%) and checking (58.3%). The patients with PPOCD had significantly more frequent aggressive obsessions (p = .039) and less severe obsessive-compulsive symptoms (p = .013) than the OCD patients without postpartum onset. The predictors of PPOCD were avoidant (p = .000) and obsessive-compulsive (p = .004) personality disorders. Conclusions This study suggests that the puerperium is a risk period in terms of new-onset OCD and that avoidant and obsessive-compulsive personality disorders predict PPOCD.

Published
2007

31. Long-term outcomes following double kissing crush or mini-culotte stenting for complex coronary bifurcation lesions: the EVOLUTE-CRUSH IV study.

Author

Yıldız M, Güner A, Demirci G, Çizgeci AY, Kahraman S, Barman HA, Uzun F, Akman C, Aydın E, Doğan A, Türkmen İ, Yıldız MM, and Ertürk M

Subjects
Humans, Male, Female, Middle Aged, Retrospective Studies, Treatment Outcome, Aged, Drug-Eluting Stents, Stents, Percutaneous Coronary Intervention methods, Percutaneous Coronary Intervention instrumentation, Coronary Artery Disease surgery, Coronary Artery Disease therapy
Abstract

Background: This study aimed to evaluate the long-term outcomes of double kissing crush stenting (DKC) and mini-culotte technique (MCT) in patients with complex bifurcation lesions., Methods: This retrospective study enrolled 236 patients who underwent percutaneous coronary intervention (PCI) for complex coronary bifurcation disease between January 2014 and November 2022. The primary endpoint was target lesion failure (TLF), defined as the combination of cardiac death, myocardial infarction (MI), or clinically driven target lesion revascularization (TLR). The secondary endpoint was major cardiovascular and cerebral events (MACCE) including all-cause death, MI, TLR, stroke, or stent thrombosis. The regression models were adjusted by applying the inverse probability weighted (IPW) approach to reduce treatment selection bias., Results: The initial management strategy was DKC in 154 (65.3%) patients and MCT in 82 (34.7%) patients (male: 194 [82.2%], mean age: 60.85 ± 10.86 years). The SYNTAX scores were similar in both groups. The rates of long-term TLF and MACCE rates were 17.4% and 20%, respectively. The rate of TLF (26.8% vs. 12.3%, p = 0.005) was higher in patients treated with MCT than those treated with the DKC technique, mainly driven by more frequent TLR (15.9% vs. 7.1%, p = 0.035). The long-term TLF and MACCE rates were notably lower in the DKC group compared to the others: adjusted hazard ratio (HR; IPW): 0.407, p = 0.009 for TLF, and adjusted HR(IPW): 0.391 [95% CI: 0.209-0.730], p = 0.003 for MACCE., Conclusion: At long-term follow-up, the rates of TLF and MACCE were 17.4% and 20%, respectively. However, long-term TLF was significantly higher in patients treated with MCT than those treated with the DKC technique, primarily due to a more frequent occurrence of clinically driven TLR., (© 2024. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.)

Published
2024
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32. Long-term cardiovascular outcomes after mini-crush or T and minimal protrusion techniques in complex bifurcation lesions: the EVOLUTE-CRUSH III study.

Author

Güner A, Uzun F, Çizgici AY, Kahraman S, Demirci G, Çiloğlu K, Gökçe K, Doğan A, Akman C, Uysal H, Gültekin Güner E, Aktürk İF, Yildiz M, Serter B, Yalçin AA, Keskin B, and Ertürk M

Subjects
Humans, Male, Middle Aged, Female, Retrospective Studies, Treatment Outcome, Aged, Stents, Time Factors, Drug-Eluting Stents, Myocardial Infarction epidemiology, Coronary Angiography methods, Percutaneous Coronary Intervention methods, Percutaneous Coronary Intervention instrumentation, Percutaneous Coronary Intervention adverse effects, Coronary Artery Disease therapy
Abstract

Background: Mini-crush (MC) and T-stenting and small protrusion (TAP) techniques are frequently used, but the long-term comparison of both techniques in patients with complex bifurcation lesions (CBLs) is still a debatable issue. This study sought to retrospectively evaluate the long-term outcomes of MC and TAP techniques in patients with CBLs., Methods: A total of 271 patients [male: 202 (78.9%), mean age: 58.90 ± 10.11 years] patients in whom complex bifurcation intervention was performed between 2014 and 2023 were involved. The primary endpoint was major cardiovascular events (MACE) as the combination of cardiac death, target vessel myocardial infarction, or clinically driven-target lesion revascularization. The Cox proportional hazard models were adjusted by the inverse probability weighting approach to reduce treatment selection bias., Results: The initial management strategy was MC in 146 patients and TAP in 125 cases. MACE occurred in 52 patients (19.2%) during a mean follow-up period of 32.43 ± 16 months. The incidence of MACE (13 vs. 26.4%, P  = 0.005) and major cardiovascular and cerebral events (15.1 vs. 28.8%, P  = 0.006) were significantly lower in the MC group than in the TAP group. Additionally, the incidence of definite or probable stent thrombosis was numerically lower in the MC group compared with the TAP group but did not differ significantly (2.7 vs. 8%, P  = 0.059). The long-term MACE was notably higher in the TAP group than the MC group [adjusted hazard ratio (inverse probability weighted): 1.936 (95% confidence interval: 1.053-3.561), P  = 0.033]., Conclusion: In this study involving patients with CBLs, percutaneous coronary intervention with the MC technique had better long-term outcomes than the TAP technique., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Published
2024
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34. Cardiovascular outcomes of complex bifurcation lesions following double kissing crush or nano-crush techniques: The multicenter EVOLUTE-CRUSH V study.

Author

Çizgici AY, Güner A, Alizade E, Çetin İ, Serin E, Doğan A, Gökçe K, Serter B, Çiloğlu K, Kahraman S, Uysal H, Çörekçioğlu B, Demirci G, Tanık VO, Aktürk F, Keskin K, Püşüroğlu H, Akman C, Yıldız M, Ertürk M, and Uzun F

Subjects
Humans, Male, Middle Aged, Female, Retrospective Studies, Aged, Treatment Outcome, Time Factors, Risk Factors, Stents, Risk Assessment, Drug-Eluting Stents, Coronary Artery Disease therapy, Coronary Artery Disease diagnostic imaging, Coronary Artery Disease mortality, Percutaneous Coronary Intervention instrumentation, Percutaneous Coronary Intervention adverse effects, Percutaneous Coronary Intervention mortality
Abstract

Background: Double kissing crush (DKC) and nano-crush (NC) techniques are frequently used, but the comparison for both techniques is still lacking. The goal of this multicenter study was to retrospectively assess the midterm clinical results of DKC and NC stenting in patients with complex bifurcation lesions (CBLs)., Methods: A total of 324 consecutive patients [male: 245 (75.6%), mean age: 60.73 ± 10.21 years] who underwent bifurcation percutaneous coronary intervention between January 2019 and May 2023 were included. The primary endpoint defined as the major cardiovascular events (MACE) included cardiac death, target vessel myocardial infarction (TVMI), or clinically driven target lesion revascularization (TLR). Inverse probability weighting (IPW) was performed to reduce treatment selection bias. This is the first report comparing the clinical outcomes of DKC and NC stenting in patients with CBL., Results: The initial revascularization strategy was DKC in 216 (66.7%) cases and NC in 108 (33.3%) patients. SYNTAX scores [25.5 ± 6.73 vs. 23.32 ± 6.22, p = 0.005] were notably higher in the NC group than the DKC group. The procedure time (76.98 ± 25.1 vs. 57.5 ± 22.99 min, p = 0.001) was notably higher in the DKC group. The incidence of MACE (18.5 vs. 9.7%, p = 0.025), clinically driven TLR (14.8 vs. 6%, p = 0.009), and TVMI (10.2 vs. 4.2%, p = 0.048) were notably higher in the NC group than in the DKC group. The midterm MACE rate in the overall population notably differed between the NC group and the DKC group (adjusted HR (IPW): 2.712, [95% CI: 1.407-5.228], p = 0.003)., Conclusion: In patients with CBLs, applying the DKC technique for bifurcation treatment had better ischemia-driven outcomes than the NC technique., (© 2024 Wiley Periodicals LLC.)

Published
2024
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35. The effect of nutrition education sessions on energy availability, body composition, eating attitude and sports nutrition knowledge in young female endurance athletes.

Author

Tektunalı Akman C, Gönen Aydın C, and Ersoy G

Subjects
Female, Humans, Athletes, Body Composition, Energy Intake, Adolescent, Sports
Abstract

Nutrition knowledge plays a pivotal role in shaping dietary habits and food choices, particularly in the realm of sports nutrition. This study investigates the effects of a series of nutrition education sessions conducted by a registered dietitian on energy availability, various anthropometric measurements, eating attitudes, and sports nutrition knowledge in young female endurance athletes aged 15-18 years (football, basketball, volleyball) who engage in training for more than 10 h per week ( n  = 83). Participants were randomly divided into two groups with 45 individuals receiving six physical nutrition education lectures, and the remaining 38 participants receiving no nutrition education. Participants completed the low energy availability in females questionnaire (LEAF-Q), Eating Attitude Test (EAT-26), and Sports Nutrition Knowledge Questionnaire (SNKQ). Energy and nutrient intakes were evaluated through 3-day food records, while exercise energy expenditure was assessed using 3-day activity logs. All of the questionnaires were repeated after 6 months. At baseline, the prevalence of LEA among athletes was determined to be 63.8%. In the intervention group, energy availability (EA) and SNKQ scores increased, and LEAF-Q scores decreased significantly ( p  < 0.05). However, there was no significant change in EAT-26 scores between the two groups. Energy intake, weight, fat-free mass, and resting metabolic rate have been increased significantly in the intervention group ( p  < 0,05). These findings suggest that nutrition education proves beneficial in enhancing dietary intake, positively influencing body composition, and improving nutrition knowledge, ultimately contributing to increased energy availability in female athletes over the short term., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Tektunalı Akman, Gönen Aydın and Ersoy.)

Published
2024
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36. Comparison of long-term outcomes of double kissing crush versus T and minimal protrusion techniques in complex bifurcation lesions: The EVOLUTE-CRUSH II registry.

Author

Uzun F, Güner A, Demirci G, Çiloğlu K, Uysal H, Çizgici AY, Bulut Ü, Kahraman S, Ağuş HZ, Gökçe K, Doğan A, Akman C, Yalçın AA, Aktürk İF, Köseoğlu M, Kalkan AK, Ertürk M, Karagöz A, and Colombo A

Subjects
Humans, Male, Middle Aged, Aged, Retrospective Studies, Treatment Outcome, Registries, Angioplasty, Balloon, Coronary adverse effects, Drug-Eluting Stents
Abstract

Background: Double kissing (DK)-crush and T-stenting and small protrusion (TAP) techniques are gaining popularity, but the comparison for both techniques is still lacking. This study sought to retrospectively evaluate the long-term outcomes of DK-crush and TAP techniques in patients with complex bifurcation lesions., Methods: A total of 255 (male: 205 [80.3%], mean age: 59.56 ± 10.13 years) patients who underwent coronary bifurcation intervention at a single-center between January 2014 and May 2021 were included. Angiographic features, procedure details, and in-hospital or long-term outcomes were assessed. The primary endpoint was target lesion failure (TLF), defined as the combination of cardiac death, target vessel myocardial infarction, or clinically driven-target lesion revascularization (TLR). The regression models were adjusted applying by the inverse probability weighted (IPW) approach to reduce treatment selection bias., Results: The initial management strategy was DK-crush in 152 (59.6%) patients and TAP in 103 (40.4%) cases. The SYNTAX scores (24.58 ± 7.4 vs. 24.26 ± 6.39, p = 0.846) were similar in both groups. The number of balloon (6.32 ± 1.82 vs. 3.92 ± 1.19, p < 0.001) usage was significantly higher in the DK-crush group than in the TAP group. The rates of TLF (11.8 vs. 22.3%, p = 0.025) and clinically driven TLR (6.6 vs. 15.5%, p = 0.020) were significantly lower in the DK-crush group compared to the TAP group. The long-term TLF was significantly higher in the TAP group compared to the DK-crush group (unadjusted HR: 1.974, [95% CI: 1.044-3.732], p = 0.035 and adjusted HR [IPW]: 2.498 [95% CI: 1.232-5.061], p = 0.011)., Conclusion: The present study showed that the DK-crush technique of bifurcation treatment was associated with lower long-term TLF and TLR rates compared to the TAP technique., (© 2024 Wiley Periodicals LLC.)

Published
2024
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38. Efficacy and Safety Analysis of Botox Application and Iatrogenic Botulism: Panacea or Peril?

Author

Karcioglu O, Akman C, and Atnis I

Subjects
Humans, Iatrogenic Disease, Clostridium botulinum, Animals, Botulism drug therapy, Botulinum Toxins, Type A adverse effects, Botulinum Toxins, Type A administration & dosage
Abstract

Clostridium botulinum toxin-A (BoNT-A) creates temporary paralysis in the muscles by acting on the muscle-nerve junction. It is injected into the mimic muscles when a decrease in the movements of the mimic muscles is desired. Despite many favorable applications, the use of BoNT-A is not without drawbacks. Although there is no expected serious side effect on health in BoNT-A treatments, various problems can be encountered in patients treated for aesthetic purposes. Botulism is a rare but potentially life-threatening syndrome, which is caused by the toxin produced by the bacterium Clostridium botulinum , which acts on the nervous system, vegetative forms of C. botulinum can only survive in anaerobic conditions, while spore forms are common in nature and can withstand harsh conditions. Botulism can stem from bacterial spores which release toxin in the body; in the form of enteric botulism, and wound botulism. The cases that develop 'iatrogenic botulism' after such procedures are usually those receiving high-dose toxin for therapeutic purposes. The treatment of botulism mainly consists of anti-toxin therapy and, if necessary, intensive care to prevent organ failures, including respiratory support. This article aims to cover all these issues related to botulism and other adverse outcomes related to BoNT-A injection in light of the most recent literature., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Published
2024
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39. Cardiovascular Outcomes After Mini-Crush or Double Kissing Crush Stenting Techniques for Complex Bifurcation Lesions: The EVOLUTE-CRUSH Registry.

Author

Güner A, Uzun F, Demirci G, Gökçe K, Uysal H, Serter B, Kahraman S, Çizgici AY, Güner EG, Çiloğlu K, Demir AR, Özalp TA, Avcı Y, Akman C, Ertürk M, and Colombo A

Abstract

Comparison of clinical outcomes of double kissing crush (DKC) and mini-crush (MC) techniques in patients with complex coronary bifurcation lesions is lacking. This study sought to determine the clinical results of DKC and MC stenting techniques in mid-term follow-up. This retrospective study included a total of 269 consecutive patients with complex bifurcation lesions who underwent percutaneous coronary intervention; 132 (49%) of them were treated with MC technique, whereas 137 (51%) treated with DKC technique. The primary end point was target lesion failure (TLF), defined as the combination of cardiac death, target vessel myocardial infarction, or clinically driven target lesion revascularization. This is the first study to compare the cardiovascular outcomes of DKC and MC stenting techniques in patients with complex bifurcation lesions. The SYNTAX scores were similar in both groups (23 [20 to 30] vs 23 [19 to 28], p = 0.631)]. The number of balloons (6.31 ± 1.80 vs 4.42 ± 0.87, p <0.001) and guidewires (3.55 ± 0.83 vs 2.86 ± 0.74, p <0.001) used, fluoroscopy time (21.55 ± 7.05 vs 16.66 ± 4.19 minutes, p <0.001), and procedure time (80.42 ± 27.95 vs 69.61 ± 18.97 minutes, p <0.001) were significantly higher in the DKC group. The rate of composite TLF was similar in complex bifurcation patients treated with MC than those treated with the DKC technique (14% vs 12%, p = 0.453). Moreover, both groups had similar rates in terms of cardiac death or all-cause death, target vessel-related myocardial infarction, clinically driven target lesion revascularization, and stent thrombosis. In conclusion, the present study showed that both techniques of bifurcation treatment met high angiographic success with low complication and similar TLF rates., Competing Interests: Declaration of Competing Interest The authors have no competing interests to declare., (Copyright © 2023 Elsevier Inc. All rights reserved.)

Published
2023
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40. Vegetable and Fruit Consumption and Its Relationship with Body Mass Index in Adults: A Cross-Sectional and Seasonal Research from Türkiye.

Author

Hizli-Guldemir H, Saleki N, Sezer FE, Yoldas-Ilktac H, Akman C, Ersoy G, and Garipagaoglu M

Subjects
Male, Humans, Adult, Female, Diet, Body Mass Index, Cross-Sectional Studies, Overweight epidemiology, Seasons, Obesity epidemiology, Vegetables, Fruit
Abstract

This study examines the relationship between fruit and vegetable consumption and the BMI in Türkiye. In this cross-sectional study, which 6332 adults were included, fruit and vegetable consumption, and preferences were collected. The quantities of vegetables and fruits were classified based on the WHO and the national recommendations. Of the adults (33.39 ± 12.59 years), 52.9% of men and 39.7% of women had an above-normal BMI. Based on WHO recommendations, overweight and obese people consumed less vegetables and fruits compared to their counterparts (ORs for women, overweight: 1.2, obese: 1.3; ORs for men, overweight: 1.3, obese: 1.5; 95% CI). The regression analysis revealed that the quantities of vegetable and fruit intake were higher in young individuals, men, and married people. Although the majority consume more than 400 g/day of vegetables and fruits, the intake is inadequate in people with obesity.

Published
2023
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41. Long-Term Evaluation of Revascularization Strategies for Medina 0.1.0 Left Main Bifurcation Lesions: The LM-CROSSOVER Registry.

Author

Güner A, Akman C, Çiloğlu K, Gökçe K, Uzun F, Can C, Kahraman S, Çizgici AY, Güler A, Demirci G, Güner EG, and Ertürk M

Abstract

The present study aimed to compare long-term outcomes of patients with Medina 0.1.0 left main (LM) bifurcation lesions treated by crossover stenting (COS) versus accurate ostial stenting (AOS). A total of 229 consecutive eligible patients with Medina 0.1.0 LM bifurcation lesions were enrolled and were stratified according to the stenting techniques. The primary end-point was major cardiovascular and cerebral events (MACCE), defined as the combination of all-cause death, target vessel related-myocardial infarction (MI), clinically driven target lesion revascularization (TLR), stroke, or stent thrombosis. COS and AOS were applied to 78 (34%) and 151 (66%) patients, respectively. During a mean of 40.6 ± 21.1 months of follow-up, the rate of MACCE (27.8 vs 12.8%; P =.007) was higher in patients treated with AOS than those treated with the COS technique, mainly driven by more frequent all-cause death (13.9 vs 3.8%, P = .013) and TLR (6.4 vs 15.9%; P = .029). In multivariable Cox regression analysis, AOS strategy was one of the independent predictors of MACCE (odds ratio: 2.166; 95% confidence interval, 1.080-4.340; P = .029). The current study suggests that COS was associated with a better long-term MACCE rate and lower all-cause mortality rate than AOS in patients with Medina 0.1.0 LM bifurcation disease., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Published
2023
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42. A Comprehensive Evaluation of National Cardiology Congresses Abstracts on the Basis of the 2016 Academic Criteria.

Author

Güner A, Güner EG, Kalçık M, Akman C, Kahraman S, Bayam E, Kalkan S, Yesin M, Çiloğlu K, Gökçe K, Uzun F, Doğan A, Gürsoy MO, Ertürk M, Gündüz S, and Özkan M

Abstract

Objective: This study aimed to describe the effects of new academic criteria established in 2016 on the abstracts of the National Congress of the Turkish Society of Cardiology., Methods: The abstracts presented at 13 consecutive annual congresses were obtained. A literature search was conducted with PubMed, Google Scholar, and Web of Science databases to analyze whether the abstract was published in a scientific journal. The study was divided into 2 time groups according to the new academic criteria published in 2016. Group 1 included 4828 abstracts accepted at National Congress of the Turkish Society of Cardiology between 2009 and 2016, while Group 2 included 2284 abstracts accepted at National Congress of the Turkish Society of Cardiology between 2017 and 2021., Results: A total of 7112 abstracts were accepted for the 2009-2021 National Congress of the Turkish Society of Cardiology meetings scientific program. The publication rate (43.2% vs. 23.9%, P < 0.001), number of authors [7(5-9) vs. 4(3-6), P < 0.001], and rate of original investigation (72.3 vs. 56.5%, P < 0.001) were significantly lower in group 2 than in group 1. Among the quality parameters of the journals in which the abstracts were published, the impact factor (0.59 ± 1.71 vs. 0.26 ± 1.09, P < 0.001), the rate of journals in science citation index or science citation index-expanded indexes (70.4 vs. 57.9%, P < 0.001), and the rate of the second or third-quartile class (24.2 vs. 16.1%, P < 0.001) were significantly lower in group 2 as compared to group 1. Being in group 1 oral presentation, original investigation, and cardiac imaging were identified as independent predictors for publication in scientific journals., Conclusion: This study showed that the 2016 new academic criteria negatively affected the publication processes of accepted abstracts in National Congress of the Turkish Society of Cardiology.

Published
2023
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43. Diagnostic and Prognostic Roles of Procalcitonin and Other Tools in Community-Acquired Pneumonia: A Narrative Review.

Author

Ozbay S, Ayan M, Ozsoy O, Akman C, and Karcioglu O

Abstract

Community-acquired pneumonia (CAP) is among the most common causes of death and one of the leading healthcare concerns worldwide. It can evolve into sepsis and septic shock, which have a high mortality rate, especially in critical patients and comorbidities. The definitions of sepsis were revised in the last decade as "life-threatening organ dysfunction caused by a dysregulated host response to infection". Procalcitonin (PCT), C-reactive protein (CRP), and complete blood count, including white blood cells, are among the most commonly analyzed sepsis-specific biomarkers also used in pneumonia in a broad range of studies. It appears to be a reliable diagnostic tool to expedite care of these patients with severe infections in the acute setting. PCT was found to be superior to most other acute phase reactants and indicators, including CRP as a predictor of pneumonia, bacteremia, sepsis, and poor outcome, although conflicting results exist. In addition, PCT use is beneficial to judge timing for the cessation of antibiotic treatment in most severe infectious states. The clinicians should be aware of strengths and weaknesses of known and potential biomarkers in expedient recognition and management of severe infections. This manuscript is intended to present an overview of the definitions, complications, and outcomes of CAP and sepsis in adults, with special regard to PCT and other important markers.

Published
2023
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44. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Author

Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, Akizu N, Smiler J, Pellegrino Da Silva R, Li D, March M, Diaz-Rosado A, Peixoto de Barcelos I, Choa ZX, Lim CY, Dubourg C, Journel H, Demurger F, Mulhern M, Akman C, Lippa N, Andrews M, Baldridge D, Constantino J, van Haeringen A, Snoeck-Streef I, Chow P, Hing A, Graham JM Jr, Au M, Faivre L, Shen W, Mao R, Palumbos J, Viskochil D, Gahl W, Tifft C, Macnamara E, Hauser N, Miller R, Maffeo J, Afenjar A, Doummar D, Keren B, Arn P, Macklin-Mantia S, Meerschaut I, Callewaert B, Reis A, Zweier C, Brewer C, Saggar A, Smeland MF, Kumar A, Elmslie F, Deshpande C, Nizon M, Cogne B, van Ierland Y, Wilke M, van Slegtenhorst M, Koudijs S, Chen JY, Dredge D, Pier D, Wortmann S, Kamsteeg EJ, Koch J, Haynes D, Pollack L, Titheradge H, Ranguin K, Denommé-Pichon AS, Weber S, Pérez de la Fuente R, Sánchez Del Pozo J, Lezana Rosales JM, Joset P, Steindl K, Rauch A, Mei D, Mari F, Guerrini R, Lespinasse J, Tran Mau-Them F, Philippe C, Dauriat B, Raymond L, Moutton S, Cueto-González AM, Tan TY, Mignot C, Grotto S, Renaldo F, Drivas TG, Hennessy L, Raper A, Parenti I, Kaiser FJ, Kuechler A, Busk ØL, Islam L, Siedlik JA, Henderson LB, Juusola J, Person R, Schnur RE, Vitobello A, Banka S, Bhoj EJ, and Stessman HAF

Subjects
Animals, Humans, Mice, Haploinsufficiency, Methyltransferases genetics, Mice, Knockout, Phenotype, Megalencephaly, Neurodevelopmental Disorders genetics, Histone Methyltransferases genetics
Abstract

Pathogenic variants in KMT5B , a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM # 617788). Given the relatively recent discovery of this disorder, it has not been fully characterized. Deep phenotyping of the largest ( n  = 43) patient cohort to date identified that hypotonia and congenital heart defects are prominent features that were previously not associated with this syndrome. Both missense variants and putative loss-of-function variants resulted in slow growth in patient-derived cell lines. KMT5B homozygous knockout mice were smaller in size than their wild-type littermates but did not have significantly smaller brains, suggesting relative macrocephaly, also noted as a prominent clinical feature. RNA sequencing of patient lymphoblasts and Kmt5b haploinsufficient mouse brains identified differentially expressed pathways associated with nervous system development and function including axon guidance signaling. Overall, we identified additional pathogenic variants and clinical features in KMT5B -related neurodevelopmental disorder and provide insights into the molecular mechanisms of the disorder using multiple model systems.

Published
2023
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46. Clinical implication of totally occluded infarct-related coronary artery in non-ST-segment elevation myocardial infarction: the TOTAL-NSTEMI study.

Author

Güner A, Çörekçioğlu B, Uzun F, Kalçik M, Ulutaş AE, Akman C, Can C, Keten MF, Küp A, Gürsoy MO, Kalkan S, Çizgici AY, Kahraman S, Güner EG, Külahçioğlu Ş, Yalçin AA, and Ertürk M

Subjects
Humans, Coronary Vessels diagnostic imaging, Retrospective Studies, Coronary Angiography, Treatment Outcome, Non-ST Elevated Myocardial Infarction diagnostic imaging, Non-ST Elevated Myocardial Infarction therapy, Non-ST Elevated Myocardial Infarction complications, Percutaneous Coronary Intervention adverse effects, Myocardial Infarction etiology, ST Elevation Myocardial Infarction complications, Thrombosis etiology
Abstract

Background: A subset ofpatients found to have total occlusion of the culprit artery (TOCA), present with non-ST-segment elevation myocardial infarction (NSTEMI) and elevated biomarkers. The aim of this study is to assess the effect of the TOCA in patients presenting with NSTEMI., Methods: This multicenter observational study was retrospectively conducted between 2015 and 2019. Thrombolysis in myocardial infarction (TIMI) flow grades 0-1 was defined as the TOCA. The primary end point included a combination of all-cause death, myocardial infarction, target vessel revascularization, stent thrombosis, and stroke., Results: Of 3272 patients, TIMI 0-1 flow in the culprit artery was present in 488 (14.9%) patients. TOCA was more likely to be of thrombotic origin (54.1% vs. 10.3%; P < 0.001) and visible collaterals (22.5% vs. 4.4%; P < 0.001). The rates of 30-day (14.3% vs. 7.2%; P < 0.001) and 2-year (25% vs. 19.1%; P = 0.003) primary end points were significantly higher in TOCA patients. Fatal arrhythmias were remarkably higher at 30-day (8.6% vs. 4%; P < 0.001) and 2-year (9% vs. 5.2%; P = 0.001) follow-ups. Mechanical complications were also higher in patients with TOCA at 30 days (0.8% vs. 0.2%; P = 0.013). Moreover, TOCA (OR, 1.379; P = 0.001) was one of the independent predictors of MACCE in NSTEMI patients., Conclusion: The current data suggest that patients with TOCA in the context of NSTEMI are at higher risk of MACCE, fatal arrhythmias, and mechanical complications., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Published
2023
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48. The effect of social interaction on decision making in emergency ambulance teams: a statistical discourse analysis.

Author

Tekïn M, Uysal İ, Toraman Ç, Akman C, Aytuğ Koşan AM, and Postaci ES

Subjects
Humans, Workforce, Communication, Decision Making, Ambulances, Social Interaction
Abstract

Introduction: This study examined the effects of social interaction, cognitive flexibility, and seniority on the correct response among emergency ambulance teams during case intervention., Methods: The research, structured with the sequential exploratory mixed method, was conducted with 18 emergency ambulance personnel. The approach process of the teams working on the scenario was video recorded. The records were transcribed by the researchers, including gestures and facial expressions. Discourses were coded and modeled with regression., Results: The number of discourses was higher in groups with high correct intervention scores. As the level of cognitive flexibility or seniority increased, the correct intervention score tended to decrease too. Informing has been identified as the only variable that positively affects the correct response to the emergency case, especially in the first period, which is directed toward case intervention preparation., Conclusion: Within the findings of the research, it is recommended that activities and scenario-based training practices that will increase the intra-team communication of the emergency ambulance personnel should be included in the medical education and in-service training., (© 2023. The Author(s).)

Published
2023
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49. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Author

Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH, Suckow V, Gibbons J, Hoff A, Sigfrid L, Megarbane A, Nizon M, Cogné B, Beneteau C, Alkuraya FS, Chedrawi A, Hashem MO, Stamberger H, Weckhuysen S, Vanlander A, Ceulemans B, Rajagopalan S, Nunn K, Arpin S, Raynaud M, Motter CS, Ward-Melver C, Janssens K, Meuwissen M, Beysen D, Dikow N, Grimmel M, Haack TB, Clement E, McTague A, Hunt D, Townshend S, Ward M, Richards LJ, Simons C, Costain G, Dupuis L, Mendoza-Londono R, Dudding-Byth T, Boyle J, Saunders C, Fleming E, El Chehadeh S, Spitz MA, Piton A, Gerard B, Abi Warde MT, Rea G, McKenna C, Douzgou S, Banka S, Akman C, Bain JM, Sands TT, Wilson GN, Silvertooth EJ, Miller L, Lederer D, Sachdev R, Macintosh R, Monestier O, Karadurmus D, Collins F, Carter M, Rohena L, Willemsen MH, Ockeloen CW, Pfundt R, Kroft SD, Field M, Laranjeira FER, Fortuna AM, Soares AR, Michaud V, Naudion S, Golla S, Weaver DD, Bird LM, Friedman J, Clowes V, Joss S, Pölsler L, Campeau PM, Blazo M, Bijlsma EK, Rosenfeld JA, Beetz C, Powis Z, McWalter K, Brandt T, Torti E, Mathot M, Mohammad SS, Armstrong R, and Kalscheuer VM

Subjects
Male, Female, Humans, Mutation, Missense, Genes, X-Linked, Phenotype, Chloride Channels genetics, Neurodevelopmental Disorders genetics
Abstract

Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant databases we assembled a database of 90 rare CLCN4 missense variants in 90 families: 41 unique and 18 recurrent variants in 49 families. For 43 families, including 22 males and 33 females, we collated detailed clinical and segregation data. To confirm causality of variants and to obtain insight into disease mechanisms, we investigated the effect on electrophysiological properties of 59 of the variants in Xenopus oocytes using extended voltage and pH ranges. Detailed analyses revealed new pathophysiological mechanisms: 25% (15/59) of variants demonstrated LOF, characterized by a "shift" of the voltage-dependent activation to more positive voltages, and nine variants resulted in a toxic gain-of-function, associated with a disrupted gate allowing inward transport at negative voltages. Functional results were not always in line with in silico pathogenicity scores, highlighting the complexity of pathogenicity assessment for accurate genetic counselling. The complex neurocognitive and psychiatric manifestations of this condition, and hitherto under-recognized impacts on growth, gastrointestinal function, and motor control are discussed. Including published cases, we summarize features in 122 individuals from 67 families with CLCN4-related neurodevelopmental condition and suggest future research directions with the aim of improving the integrated care for individuals with this diagnosis., (© 2022. The Author(s).)

Published
2023
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50. Procedural (Conscious) Sedation and Analgesia in Emergency Setting: How to Choose Agents?

Author

Ayan M, Ozsoy O, Ozbay S, Akman C, Suzer NE, and Karcioglu O

Subjects
Adult, Humans, Analgesics, Analgesics, Opioid, Hypnotics and Sedatives therapeutic use, Midazolam, Pain drug therapy, Analgesia methods, Conscious Sedation methods
Abstract

Pain has long been defined as an unpleasant sensory and emotional experience originating from any region of the body in the presence or absence of tissue injury. Physicians involved in acute medicine commonly undertake a variety of invasive and painful procedures that prompt procedural sedation and analgesia (PSA), which is a condition sparing the protective airway reflexes while depressing the patient's awareness of external stimuli. This state is achieved following obtaining the patient's informed consent, necessary point-ofcare monitoring, and complete recording of the procedures. The most commonly employed combination for PSA mostly comprises short-acting benzodiazepine (midazolam) and a potent opioid, such as fentanyl. The biggest advantage of opioids is that despite all the powerful effects, upper airway reflexes are preserved and often do not require intervention. Choices of analgesic and sedative agents should be strictly individualized and determined for the specific condition. The objective of this review article was to underline the characteristics, effectiveness, adverse effects, and pitfalls of the relevant drugs employed in adults to facilitate PSA in emergency procedures., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Published
2023
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