Tıp Fakültesi / Faculty of Medicine
Permanent URI for this collectionhttps://hdl.handle.net/11727/1403
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Item Efficacy of Abatacept Treatment in A Patient with Enteropathy Carrying A Variant of Unsignificance in CTLA4 Gene: A Case Report(2023) Musabak, Ugur; Erdogan, Tuba; Ceylaner, Serdar; Ozbek, Emre; Suna, Nuretdin; Ozdemir, Binnaz Handan; 37731560; KBC-3218-2024BACKGROUNDCytotoxic T Lymphocyte Antigen-4 (CTLA4) deficiency is a genetic defect that causes a common variable immunodeficiency (CVID) clinical phenotype. Several studies have reported an association between CTLA mutations or variants and various autoimmune diseases. Targeted therapy models, which have become increasingly popular in recent years, have been successful in treating CTLA4 deficiency. In this article, we discuss the clinical outcomes of abatacept treatment in a patient with CTLA4 and lipopolysaccharide-responsive beige-like anchor (LRBA) variants that was previously diagnosed with CVID.CASE SUMMARYA 25-year-old female patient, who was visibly cachectic, visited our clinic over the course of five years, complaining of diarrhea. The patient was diagnosed with ulcerative colitis in the centers she had visited previously, and various treatments were administered; however, clinical improvement could not be achieved. Severe hypokalemia was detected during an examination. Her serum immunoglobulin levels, CD19+ B-cell percentage, and CD4/CD8 ratio were low. An endoscopic examination revealed erosive gastritis, nodular duodenitis, and pancolitis. Histopathological findings supported the presence of immune mediated enteropathy. When the patient was examined carefully, she was diagnosed with CVID, and intravenous immunoglobulin treatment was initiated. Peroral and rectal therapeutic drugs including steroid therapy episodes were administered to treat the immune mediated enteropathy. Strict follow-ups and treatment were performed due to the hypokalemia. After conducting genetic analyses, the CTLA4 and LRBA variants were identified and abatacept treatment was initiated. With targeted therapy, the patient's clinical and laboratory findings rapidly regressed, and there was an increase in weight.CONCLUSIONThe heterozygous CTLA4 variant identified in the patient has been previously shown to be associated with various autoimmune diseases. The successful clinical outcome of abatacept treatment in this patient supports the idea that this variant plays a role in the immunopathogenesis of the disease. In the presence of severe disease, abatacept therapy should be considered until further testing can be conducted.Item Coexistence of Tubo-Ovarian Abscess and Carcinoid Tumor of the Appendix in A Sexually Inactive Girl: A Case Report(2022) Acer-Demir, Tugba; Sagnak-Akilli, Muge; Guney, Lutfi Hakan; Arslan, Esra Elif; Fakioglu, Ender; https://orcid.org/0000-0001-5391-9094; https://orcid.org/0000-0002-7437-2734; E-4455-2019; AFT-2490-2022Background: Tubo-ovarian abscess (TOA) is mostly a sequela of pelvic inflammatory disease (PID) which is seen in sexually active women. Although very rare, TOA could be seen in virgin adolescent girls. Fifteen cases of TOA were reported in virgin girls in English literature. Only one of these cases was suspected to be due to appendicitis. Herein, we present the first case of coexistence of tubo-ovarian abscess and carcinoid tumor of the appendix in a sexually inactive girl. Case presentation: A 13-year-old girl presented with abdominal pain and fever. Ultrasonography reported that there was a 63x48 mm sized, heterogeneous, thick-walled, dense-content complicated cyst in the right ovary which was thought to be a hemorrhagic cyst and a tubular structure, measuring 12 mm in its thickest part which was thought to be the appendix. During the operation, a TOA was observed in the right adnexal region. The thick, edematous appendix which was lying separately was excised. The TOA was evacuated; a drain was placed. The appendix pathology was reported as "carcinoid tumor. " Conclusion: We present the first case of TAO with carcinoid tumor of appendix and the second case of TAO that was suspected to be due to appendicitis. When the sexually inactive TOA cases including our case were reviewed, we found that the median age was 15 years (12-47 years) and 11 of 16 cases (69%) were under 18 years of age. The presenting symptoms were abdominal or pelvic pain in all cases, fever in 11 cases (69%), vomiting in 6 cases (38%), dysuria in 5 cases (31%), and diarrhea in 3 cases (19%). Both perforated appendicitis and TOA patients have the same clinic presentation such as fever, abdominal tenderness, increased leukocyte count, increased inflammatory markers. The differential diagnosis can be achieved by radiological examinations such as ultrasonography, computerized tomography or magnetic resonance imaging.Item Case Reports: Should We Do Away with Them?(2017) Firat, Aynur Camkiran; Araz, Coskun; Kayhan, Zeynep; 0000-0002-4927-6660; 0000-0003-0579-1115; 0000-0003-1470-7501; 28235534; AAJ-4576-2021; AAJ-4623-2021Study objective: There has been a gradual decline in the number of case reports published in leading medical journals in recent years. Since case reports are not highly cited they have an adverse effect on the journal impact factor. On the other hand sharing new experiences, challenges, or discoveries with colleagues is essential for medical community. Should case reports be eliminated from the journals or published only in journals devoted to case reports? Design: Observational study. Setting: Web of Science database was searched, between 2005 and 2009, with terms: "anesthesia", "anesthesiology" and "case report" yielding 25 969, 9532, and 661 publications, respectively. Since some reports contained large number of cases, only those involving up to three cases (n = 425) were evaluated by the authors with respect to their type, contribution to knowledge and/or practice (Likert scale) and times they were cited. Main results: Distribution of answers to the statement "Case has added to my knowledge and/or improved my practice" was; 3% (strongly disagree), 10.5% (disagree), 33.2% (neither agree nor disagree), 39.3% (agree) and 13.7% (strongly agree). Average citations per item was 4.43 (1883/425), 7.32 (4838/661), and 7.82 (74 529/ 9532). As to the types of the reports; 50% unexpected event in the course of anesthesia, 31% unusual and instructive cases, 9.6% novel/unique anesthetic techniques, 6% novel use of equipment, 1.6% new information on diseases of importance to anesthesiology and 1% scientific observations. Conclusion: Case reports have been an important source of clinical guidance and scientific insight, and play an important role in medical education. They can be published quickly, providing publication opportunity for juniors and for clinicians who may not have the time or finance to conduct large-scale research. On the other hand some argue, that case reports are irrelevant in current medical practice and education, being at the bottom of the hierarchical ladder of medical evidence. We conclude that case reports should not be done away with but be published in websites and journals like the venue to be launched in 2013 by the International Anesthesia Research Society, devoted entirely to them to meet the need for the publication of interesting cases. (C) 2016 Elsevier Inc. All rights reserved.Item A novel mutation in TRMT5 associated with idiopathic non-cirrhotic portal hypertension and hepatopulmonary syndrome: Case report of two siblings(2022) Warasnhe, Khaled; Ozcay, Figen; Aydin, Halil Ibrahim; Ozgun, Gonca; Ceylaner, Serdar; https://orcid.org/0000-0002-0781-5814; 35460901Non-cirrhotic portal hypertension (NCPH) is a rare clinical entity in children. Familial clusters of idiopathic non-cirrhotic portal hypertension (INCPH) were previously reported in cases with deoxyguanosine kinase (DGOUK) and potassium calcium-activated channel subfamily N member 3 (KCNN3) mutations. Herein, we report two siblings who had a novel mutation in mitochondrial tRNA methyltransferase 5 (TRMT5) gene and presented with hepatopulmonary syndrome and later diagnosed as INCPH. Autosomal recessive inheritance of this mutation may suggest a role of TRMT5 mutations in the development of NCPH. Screening of TRMT5 mutations could be considered when familial INCPH is suspected. ?? 2022 Elsevier Masson SAS. All rights reserved.