Stuttering; is defined as a deterioration in the fluency and timing of speech that can occur at any age, and which is inappropriate to the individual’s age and language skills. Several factors play a role in its etiology. Medications are one such factor. Atomoxetine is a drug that is frequently employed and well- tolerated in the treatment of attention-deficit hyperactivity disorder in children and adolescents. Stuttering is not a common side- effect when using atomoxetine. This report describes, a seven-year-old patient whose stuttering worsened significantly during atomoxetine use. This case is reported due to the scarcity of cases in which stuttering worsened during the use of atomoxetine.
{"title":"Stuttering worsened with atomoxetine treatment in a child with attention deficit and hyperactivity disorder","authors":"A. Karayağmurlu, Kerime Merve Aykan","doi":"10.17826/cumj.1319787","DOIUrl":"https://doi.org/10.17826/cumj.1319787","url":null,"abstract":"Stuttering; is defined as a deterioration in the fluency and timing of speech that can occur at any age, and which is inappropriate to the individual’s age and language skills. Several factors play a role in its etiology. Medications are one such factor. Atomoxetine is a drug that is frequently employed and well- tolerated in the treatment of attention-deficit hyperactivity disorder in children and adolescents. Stuttering is not a common side- effect when using atomoxetine. This report describes, a seven-year-old patient whose stuttering worsened significantly during atomoxetine use. This case is reported due to the scarcity of cases in which stuttering worsened during the use of atomoxetine.","PeriodicalId":10748,"journal":{"name":"Cukurova Medical Journal","volume":"301 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139338713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Janipalli Manojna, Satya Sai Srinivas Allada, Vinodkumar Mugada, Wasim Feroz
Otogenic brain abscess, precipitated by acute mastoiditis, is a rare but potentially fatal condition. It constitutes an intracranial complication that can further develop due to meningitis and sigmoid sinus thrombosis. This case underscores the critical importance of early detection and therapeutic intervention, which often pose substantial clinical challenges. This report elucidates the case of a 35-year-old female who arrived with severe otalgia, noted predominantly on the right side, coupled with discharge and vertigo. Subsequent neuroimaging unveiled the presence of basal meningitis in the right cerebellar hemisphere, accompanied by an extradural abscess and coalescent mastoid air cells. The patient's treatment protocol entailed a rigorous antibiotic regimen, continually adjusted based on symptomatic improvement. The rapid diagnosis and immediate treatment of otogenic brain abscesses are paramount. As observed in our case, factors such as limited medical knowledge, oversight in medical care, and socio-economic disadvantages contributed to the severity of the intracranial complication. These elements highlight the necessity of addressing systemic factors in healthcare to ensure effective prevention and management of such conditions.
{"title":"Akut mastoidite ikincil nadir görülen bir otojenik beyin apsesi tablosu","authors":"Janipalli Manojna, Satya Sai Srinivas Allada, Vinodkumar Mugada, Wasim Feroz","doi":"10.17826/cumj.1325207","DOIUrl":"https://doi.org/10.17826/cumj.1325207","url":null,"abstract":"Otogenic brain abscess, precipitated by acute mastoiditis, is a rare but potentially fatal condition. It constitutes an intracranial complication that can further develop due to meningitis and sigmoid sinus thrombosis. This case underscores the critical importance of early detection and therapeutic intervention, which often pose substantial clinical challenges. This report elucidates the case of a 35-year-old female who arrived with severe otalgia, noted predominantly on the right side, coupled with discharge and vertigo. Subsequent neuroimaging unveiled the presence of basal meningitis in the right cerebellar hemisphere, accompanied by an extradural abscess and coalescent mastoid air cells. The patient's treatment protocol entailed a rigorous antibiotic regimen, continually adjusted based on symptomatic improvement. The rapid diagnosis and immediate treatment of otogenic brain abscesses are paramount. As observed in our case, factors such as limited medical knowledge, oversight in medical care, and socio-economic disadvantages contributed to the severity of the intracranial complication. These elements highlight the necessity of addressing systemic factors in healthcare to ensure effective prevention and management of such conditions.","PeriodicalId":10748,"journal":{"name":"Cukurova Medical Journal","volume":"24 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139341553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
We present a 58-year old male patient with distal and proximal interphalangeal (DIP/PIP) joints arthritis with synovitis and dactylitis. When literature was investigated, there are a few clinical condition in which DIP involved except osteoarthritis and psoriatic arthritis. Clinical and radiologic findings are atypical for both inflammatory arthritis and osteoarthritis. A new type of hand arthritis in individuals who have tendency with findings of erosive arthritis and dactylitis may be a possible diagnosis.
{"title":"Atipik bir artrit vakası","authors":"Gönen Mengi̇, Nihal Karayer, Senem ŞENTÜRK GÜÇEL, Ceyda TETİK AYDOĞDU, Mürşide Gülay ÖRGÜN SÖNMEZ","doi":"10.17826/cumj.1322374","DOIUrl":"https://doi.org/10.17826/cumj.1322374","url":null,"abstract":"We present a 58-year old male patient with distal and proximal interphalangeal (DIP/PIP) joints arthritis with synovitis and dactylitis. When literature was investigated, there are a few clinical condition in which DIP involved except osteoarthritis and psoriatic arthritis. Clinical and radiologic findings are atypical for both inflammatory arthritis and osteoarthritis. A new type of hand arthritis in individuals who have tendency with findings of erosive arthritis and dactylitis may be a possible diagnosis.","PeriodicalId":10748,"journal":{"name":"Cukurova Medical Journal","volume":"21 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139341671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Melanosis Coli is a rare and unusual appearance of the colon with dark brown pigmentation in a snakeskin-like pattern. Owing to its rarity and different view, it cannot be distinguished from ischemic colitis, especially in acute settings. Unfortunately, some patients are diagnosed after colectomy. The malignant potential of the disease remains controversial. In this article, we discuss a patient who was found to have melanosis coli and then briefly examine the relevant medical literature.
{"title":"Melanozis koli","authors":"İdris Kurt, Ebru Erol Uzunoğlu","doi":"10.17826/cumj.1335565","DOIUrl":"https://doi.org/10.17826/cumj.1335565","url":null,"abstract":"Melanosis Coli is a rare and unusual appearance of the colon with dark brown pigmentation in a snakeskin-like pattern. Owing to its rarity and different view, it cannot be distinguished from ischemic colitis, especially in acute settings. Unfortunately, some patients are diagnosed after colectomy. The malignant potential of the disease remains controversial. In this article, we discuss a patient who was found to have melanosis coli and then briefly examine the relevant medical literature.","PeriodicalId":10748,"journal":{"name":"Cukurova Medical Journal","volume":"123 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139341673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dilara Özdemi̇r, A. Tufan, Y. Öztürk, Ayşegül Danış, Setenay Sarioğlu
Epilepsy is the most common childhood neurological disorder that affects 0.5 to 1.0 % of children younger than 16 years of age. Cognitive and behavioral impairments as well as various psychiatric and neurodevelopmental disorders can accompany this condition. Among children and adolescents, occipital epilepsy can be easily overlooked because it can mimic other epileptic syndromes and symptoms may be subtle. The initial complaint of a patient suffering from occipital epilepsy could be visual hallucinations. Child and adolescent psychiatrists must be aware of the difference between these neurological-originated hallucinations and others denoting psychopathologies.
{"title":"Differential diagnosis and treatment of idiopathic occipital epilepsy and visual seizures in an adolescent case: Is “hallucination” always “hallucination”?","authors":"Dilara Özdemi̇r, A. Tufan, Y. Öztürk, Ayşegül Danış, Setenay Sarioğlu","doi":"10.17826/cumj.1322493","DOIUrl":"https://doi.org/10.17826/cumj.1322493","url":null,"abstract":"Epilepsy is the most common childhood neurological disorder that affects 0.5 to 1.0 % of children younger than 16 years of age. Cognitive and behavioral impairments as well as various psychiatric and neurodevelopmental disorders can accompany this condition. Among children and adolescents, occipital epilepsy can be easily overlooked because it can mimic other epileptic syndromes and symptoms may be subtle. The initial complaint of a patient suffering from occipital epilepsy could be visual hallucinations. Child and adolescent psychiatrists must be aware of the difference between these neurological-originated hallucinations and others denoting psychopathologies.","PeriodicalId":10748,"journal":{"name":"Cukurova Medical Journal","volume":"492 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139341605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Purpose: Long-lasting COVID-19 symptoms are closely associated with psychiatric sequelae. However, little is known about whether it is possible to predict a protracted course early in the disease. In this study, we aimed to understand how post-COVID-19 psychiatric symptomatology evolves over time and the variables that affect these symptoms. Materials and Methods: Anxiety, depression, acute stress, and sleep disorders among patients with COVID-19 were prospectively evaluated during hospitalization and six months after discharge. Adult patients recently admitted to non-intensive care units with COVID-19 were eligible. Their psychiatric status was assessed using the Hospital Anxiety and Depression Scale, National Stressful Events Survey Acute Stress Disorder Short Scale, Pittsburgh Sleep Quality Index. The patients’ clinical data were gathered from hospital records. Six months after they were discharged, the same questionnaire and a checklist to assess ongoing physical symptoms were distributed to the patients via WhatsApp. Results: 143 participants were enrolled, 47 of whom completed the study. The results showed that patients’ depression, anxiety, and insomnia significantly decreased during the follow-up. However, there was an increase in the number of patients who reported acute stress symptoms. The highest C-reactive protein level during acute infection (OR=1.09) predicted depression during the follow-up. Experiencing a higher number of infectious symptoms during hospitalization predicted a higher number of protracted symptoms six months later (OR=1.5). Conclusion: This indicates that the severity of systemic inflammation during acute COVID-19 infection may predispose patients to persistent depression. Patients with a higher number of symptoms during acute infection may be at risk of developing long-term COVID-19.
{"title":"COVID-19 enfeksiyonu geçiren bireylerde altı ay içinde görülen ruhsal bozukluklar","authors":"Cana AKSOY POYRAZ, Ö. Demi̇rel, B. Poyraz, Şenol Turan, Ersel Bulu, Sadige OSMANLI SHİROLU, Yasin Kavla, Elif Burcu Ersungur, Rıdvan Karaali","doi":"10.17826/cumj.1242481","DOIUrl":"https://doi.org/10.17826/cumj.1242481","url":null,"abstract":"Purpose: Long-lasting COVID-19 symptoms are closely associated with psychiatric sequelae. However, little is known about whether it is possible to predict a protracted course early in the disease. In this study, we aimed to understand how post-COVID-19 psychiatric symptomatology evolves over time and the variables that affect these symptoms. \u0000Materials and Methods: Anxiety, depression, acute stress, and sleep disorders among patients with COVID-19 were prospectively evaluated during hospitalization and six months after discharge. Adult patients recently admitted to non-intensive care units with COVID-19 were eligible. Their psychiatric status was assessed using the Hospital Anxiety and Depression Scale, National Stressful Events Survey Acute Stress Disorder Short Scale, Pittsburgh Sleep Quality Index. The patients’ clinical data were gathered from hospital records. Six months after they were discharged, the same questionnaire and a checklist to assess ongoing physical symptoms were distributed to the patients via WhatsApp. \u0000Results: 143 participants were enrolled, 47 of whom completed the study. The results showed that patients’ depression, anxiety, and insomnia significantly decreased during the follow-up. However, there was an increase in the number of patients who reported acute stress symptoms. The highest C-reactive protein level during acute infection (OR=1.09) predicted depression during the follow-up. Experiencing a higher number of infectious symptoms during hospitalization predicted a higher number of protracted symptoms six months later (OR=1.5). \u0000Conclusion: This indicates that the severity of systemic inflammation during acute COVID-19 infection may predispose patients to persistent depression. Patients with a higher number of symptoms during acute infection may be at risk of developing long-term COVID-19.","PeriodicalId":10748,"journal":{"name":"Cukurova Medical Journal","volume":"57 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79809136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abdominal cystic lymphangiomas are benign congenital anomalies of the mesenteric and retroperitoneal lymphatics, which are not common in the literature. Diagnosis is usually made by physical examination, ultrasonography, and computed tomography. If a significant portion of adjacent organs is not to be sacrificed, complete surgical removal of the mass is the therapeutic option for symptomatic abdominal cystic lymphangiomas. In this study, a patient with mesenteric cystic lymphangioma who underwent surgical treatment is presented. A result of the radiological examinations performed on a 17-year-old female patient who applied for intermittent abdominal pain and a mass in the abdomen as a result of the well-defined, septated mesenteric cystic lymphangioma and acute appendicitis were detected. The patient underwent a diagnostic laparoscopic procedure and then an open surgical treatment, and excision and resection anastomosis were performed on the mass surrounding the jejunum approximately 100 cm distal to the ligament of Treitz. The patient did not have any postoperative problems and was discharged with recovery on the 5th day after surgery. Mesenteric cystic lymphangiomas should be kept in mind in patients with intermittent abdominal pain and abdominal mass, and surgical treatment should be applied in selected cases, as it may rarely cause serious complications.
{"title":"A rare cause of acute abdomen in childhood: coexistence of mesenteric cystic lymphangioma and acute appendicitis","authors":"M. Uysal, M. Bayram","doi":"10.17826/cumj.1253288","DOIUrl":"https://doi.org/10.17826/cumj.1253288","url":null,"abstract":"Abdominal cystic lymphangiomas are benign congenital anomalies of the mesenteric and retroperitoneal lymphatics, which are not common in the literature. Diagnosis is usually made by physical examination, ultrasonography, and computed tomography. If a significant portion of adjacent organs is not to be sacrificed, complete surgical removal of the mass is the therapeutic option for symptomatic abdominal cystic lymphangiomas. In this study, a patient with mesenteric cystic lymphangioma who underwent surgical treatment is presented. A result of the radiological examinations performed on a 17-year-old female patient who applied for intermittent abdominal pain and a mass in the abdomen as a result of the well-defined, septated mesenteric cystic lymphangioma and acute appendicitis were detected. The patient underwent a diagnostic laparoscopic procedure and then an open surgical treatment, and excision and resection anastomosis were performed on the mass surrounding the jejunum approximately 100 cm distal to the ligament of Treitz. The patient did not have any postoperative problems and was discharged with recovery on the 5th day after surgery. Mesenteric cystic lymphangiomas should be kept in mind in patients with intermittent abdominal pain and abdominal mass, and surgical treatment should be applied in selected cases, as it may rarely cause serious complications.","PeriodicalId":10748,"journal":{"name":"Cukurova Medical Journal","volume":"48 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89009193","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Neoplasms in sinonasal cavity are dominated by epithelial type. Sinonasal osteomas are common, benign, slow-growing, often asymptomatic neoplasms occurring mainly in the frontal and ethmoid sinuses. Peripheral nevre sheath tumors are soft tissue neoplasms rarely encountered in the sinonasal region. Schwannoma is a benign peripheral nevre sheath tumor. Here, we presented co-occurence of osteoma and schwannoma. So far, osteoma infiltrated by schwannoma in sinonasal region is not reported in English literature. Additionally it was masquerading as malignant tumor radiologically. The pathologist should be aware of a second soft-tissue tumor that may accompanied the radiologically suspicious malignant bone lesions.
{"title":"Osteoma infiltrated by schwannoma in sinonasal region: radiologically masquerading as a malign tumor","authors":"İ. Saygın, E. Çakir, Ü. Çobanoğlu, Selçuk Akkaya","doi":"10.17826/cumj.1278227","DOIUrl":"https://doi.org/10.17826/cumj.1278227","url":null,"abstract":"Neoplasms in sinonasal cavity are dominated by epithelial type. Sinonasal osteomas are common, benign, slow-growing, often asymptomatic neoplasms occurring mainly in the frontal and ethmoid sinuses. Peripheral nevre sheath tumors are soft tissue neoplasms rarely encountered in the sinonasal region. Schwannoma is a benign peripheral nevre sheath tumor. Here, we presented co-occurence of osteoma and schwannoma. So far, osteoma infiltrated by schwannoma in sinonasal region is not reported in English literature. Additionally it was masquerading as malignant tumor radiologically. The pathologist should be aware of a second soft-tissue tumor that may accompanied the radiologically suspicious malignant bone lesions.","PeriodicalId":10748,"journal":{"name":"Cukurova Medical Journal","volume":"25 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77832049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Purpose: To report a case where a lamellar macular hole (LMH) developed following intravitreal injection of aflibercept due to neovascular age-related macular degeneration (nAMD). Material and Methods: A 70-year-old man diagnosed with nAMD underwent intravitreal aflibercept injections for three consecutive months. At follow up, the resolution of the subretinal fluid was revealed by optical coherence tomography (OCT), and a visual improvement was observed. One month later, visual impairment occurred with respect to the activation of the neovascular membrane. Hence, intravitreal injection of aflibercept was performed again. Results: The LMH developed after one month following the last injection, as demonstrated by OCT, in addition to the resolution of subretinal fluid and some visual improvement. Conclusion: To our knowledge, this is the first case study reporting such LMH formation after intravitreal aflibercept injection. The literature was evaluated for mechanisms in explaining the formation of LMH after aflibercept injection.
{"title":"Lamellar macular hole following intravitreal aflibercept injection in a patient with neovascular age-related macular degeneration","authors":"F. Bağcı, M. Çıtırık","doi":"10.17826/cumj.1229581","DOIUrl":"https://doi.org/10.17826/cumj.1229581","url":null,"abstract":"Purpose: To report a case where a lamellar macular hole (LMH) developed following intravitreal injection of aflibercept due to neovascular age-related macular degeneration (nAMD). \u0000 \u0000Material and Methods: A 70-year-old man diagnosed with nAMD underwent intravitreal aflibercept injections for three consecutive months. At follow up, the resolution of the subretinal fluid was revealed by optical coherence tomography (OCT), and a visual improvement was observed. One month later, visual impairment occurred with respect to the activation of the neovascular membrane. Hence, intravitreal injection of aflibercept was performed again. \u0000 \u0000Results: The LMH developed after one month following the last injection, as demonstrated by OCT, in addition to the resolution of subretinal fluid and some visual improvement. \u0000 \u0000Conclusion: To our knowledge, this is the first case study reporting such LMH formation after intravitreal aflibercept injection. The literature was evaluated for mechanisms in explaining the formation of LMH after aflibercept injection.","PeriodicalId":10748,"journal":{"name":"Cukurova Medical Journal","volume":"42 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80670878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alpha thalassemia is a genetic disease characterized by insufficient expression or definite absence of the α-globin chain. Three large deletions (thal-1; 26.5 kb or MedII, 20.5 kb and 17.4 kb or MedI) and two small deletions (thal-2; 4.2 kb and 3.7 kb) have been characterized in our country. In addition, two different PolyA mutations (PA1: AATAAA>AATAAG and PA2: AATAAA>AATGA) on the α2-globin gene (αα/αPAα), 5nt deletion (αα/α5ntα), and unstable Hb variant (CD 59; GGC→GAC) synthesized by the α1-globin gene (αα/ααCD59) have been reported. More than ten different combinations of α-thal-1 and α-thal-2 (--/-α) or HbH genotypes with point mutations (--/αPAα or --/ααCD59) were determined. In this study, which was carried out in Çukurova region, it is aimed to emphasize the importance of giving genetic counseling to families with alpha thalassemia carriers and to determine genotype combinations. DNA was isolated from blood samples taken from 5 children and their families who were admitted to Çukurova University Balcalı Hospital and diagnosed with severe anemia (Hb
{"title":"Hemoglobin H hastalığında genetik danışmanlık önemli midir?","authors":"Yusuf Döğüş, Petek Çürük, Akif Çürük","doi":"10.17826/cumj.1283151","DOIUrl":"https://doi.org/10.17826/cumj.1283151","url":null,"abstract":"Alpha thalassemia is a genetic disease characterized by insufficient expression or definite absence of the α-globin chain. Three large deletions (thal-1; 26.5 kb or MedII, 20.5 kb and 17.4 kb or MedI) and two small deletions (thal-2; 4.2 kb and 3.7 kb) have been characterized in our country. In addition, two different PolyA mutations (PA1: AATAAA>AATAAG and PA2: AATAAA>AATGA) on the α2-globin gene (αα/αPAα), 5nt deletion (αα/α5ntα), and unstable Hb variant (CD 59; GGC→GAC) synthesized by the α1-globin gene (αα/ααCD59) have been reported. More than ten different combinations of α-thal-1 and α-thal-2 (--/-α) or HbH genotypes with point mutations (--/αPAα or --/ααCD59) were determined. In this study, which was carried out in Çukurova region, it is aimed to emphasize the importance of giving genetic counseling to families with alpha thalassemia carriers and to determine genotype combinations. DNA was isolated from blood samples taken from 5 children and their families who were admitted to Çukurova University Balcalı Hospital and diagnosed with severe anemia (Hb","PeriodicalId":10748,"journal":{"name":"Cukurova Medical Journal","volume":"99 1","pages":""},"PeriodicalIF":0.2,"publicationDate":"2023-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86725644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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