Browsing by Author "Cetin, Mecnun"

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Assessment of Pulmonary Artery Pressure and Right Ventricular Function in Children With Adenotonsillar Hypertrophy Using Different Parameters
(Elsevier Ireland Ltd, 2014) Cetin, Mecnun; Yilmaz, Munevver; Ozen, Serkan; Bozan, Nazlin; Coskun, Senol
Objective: Our aim was comparison of preoperative and postoperative right ventricular functions of children with adenotonsillar hypertrophy (ATH) who have findings of upper airway obstruction, using new echocardiographic parameters. Methods: Forty-one children who have admitted to our hospital with symptoms suggestive of upper airway obstruction, whose history and physical examination findings suggest upper airway obstruction and who have undergone adenoidectomy/adenotonsillectomy and 40 healthy children, all of whom between 2 and 12 years of age, were included in the study. Patient group was evaluated by pulsed wave tissue Doppler echocardiography as well as with conventional echocardiography before the operation and 6 months after the operation. Results: Of 41 children in study group, 26 (63.4%) had adenotonsillectomy and 15 (36.6%) had adenoidectomy. Tricuspid annular plane systolic excursion (TAPSE) was significantly lower in preoperative group compared to control group (18.46 +/- 1.67, 19.77 +/- 1.62; p = 0.000, respectively). Myocardial performance index (MPI) was significantly higher in preoperative group than postoperative and control group (0.40 +/- 0.07, 0.36 +/- 0.06, 0.35 +/- 0.07; p = 0.032, respectively). Tricuspid isovolumic acceleration (TIVA) was significantly lower in preoperative group than preoperative and control group (2.97 +/- 0.8, 3.43 +/- 0.7, 3.43 +/- 0.9; p = 0.020, respectively). Disappearance of this difference was found between postoperative and control groups (p = 0.984). Pulmonary acceleration time (PAcT) was found to be significantly lower in preoperative group compared to postoperative and control group (109.68 +/- 18.03, 118.93 +/- 17.46, 120.0 +/- 14.07; p = 0.010, respectively). Mean pulmonary artery pressure (mPAP) was significantly higher in preoperative group than control group (29.64 +/- 8.11, 24.95 +/- 6.33; p = 0.010, respectively). In postoperative group mPAP was found to be similar to control group (25.48 +/- 7.85, 24.95 +/- 633; p = 0.740, respectively). Conclusions: TAPSE, PAcT, MPI and TIVA are useful markers for evaluation of preoperative and postoperative ventricular function in children with ATH who have findings of upper airway obstruction. We think that using these practical and easy-to perform parameters may be relevant for evaluation and postoperative follow-up of patients with ATH who have findings of upper airway obstruction. Besides adenotonsillectomy is a beneficial treatment option for these patients. (C) 2014 Elsevier Ireland Ltd. All rights reserved.
Carbamazepine-Induced Dress Syndrome Leading To Reversible Myocarditis in a Child
(Termedia Publishing House Ltd, 2019) Cetin, Mecnun; Mis, Mevsim Demir; Karaman, Kamuran; Yavuz, Ibrahim H.; Geylan, Hadi; Tuncdemir, Perihan; Demir, Feyza
DRESS (drug reaction with eosinophilia and systemic symptoms) syndrome is a rare type of delayed drug hypersensitivity reaction characterised by fever, skin rash, lymphadenopathy, and visceral involvement, which can be life threatening and is a childhood event. An eight-year-old boy was admitted with complaints of extensive rash and fever three weeks after the onset of treatment with carbamazepine for a diagnosis of epilepsy. Fever, as well as patches and plaques with indeterminate limits that tended to merge and were non-blanchable on a widespread erythematous layer, were revealed in physical examination. Extensive cervical, submandibular, and inguinal lymphadenopathy was observed. We present ours as the second case of myocarditis secondary to DRESS syndrome after carbamazepine use in the literature.
Cardiovascular Evaluation and Serum Paraoxonase-1 Levels in Adolescents With Polycystic Ovary Syndrome
(Taylor & Francis inc, 2020) Cetin, Mecnun; Tuncdemir, Perihan; Karaman, Kamuran; Yel, Servet; Karaman, Erbil; Ozgokce, Mesut; Komuroglu, Ahmet Ufuk
The aim of our study was to evaluate whether cardiovascular disease risks seen in adults with polycystic ovary syndrome (PCOS) develop in adolescents with PCOS using conventional Doppler echocardiography (CDE) and tissue Doppler echocardiography (TDE) or not. The other aim was to investigate the association of paraoxonase-1 (PON-1) level with cardiovascular parameters. 30 PCOS patients and 30 control patients were included in the study. All patients were evaluated with TDE and CDE. Paraoxonase-1 levels of both groups were studied. In CDE study, myocardial performance index (MPI) was higher in the PCOS group than in the control group (0.54 +/- 0.11, 0.50 +/- 0.12, p = .049, respectively). In the TDE study, early diastolic myocardial velocity (E)'/late diastolic myocardial velocity (A ') was lower in PCOS group than in the control group (2.07 +/- 0.08, 2.44 +/- 0.10, p = .008, respectively). PON-1 was higher in PCOS group than in the control group (26.81 +/- 3.05, 18.68 +/- 1.18, p = .011, respectively). Cardiovascular disease risks, which are among the long-term complications of PCOS, seem to begin from the early stage of PCOS. The high PON-1 level was thought to increase in response to increased oxidative stress in PCOS.Impact statement What is already known on this subject? Polycystic ovary syndrome (PCOS) is one of the most commonly seen endocrinopathy in the adolescent age group. PCOS has detrimental effects on the cardiovascular system in the adult population which is reported in many studies. What the results of this study add? The result of this study showed that cardiovascular effects, which are among the long-term complications of PCOS, seem to begin from the early stage of PCOS. And also, serum paraoxonase-1 level increases in response to the oxidative stress in the adolescent with PCOS.
Chediak-Higashi Syndrome Presented With Hemophagocytic Lymphohistiocytosis
(Thieme Medical Publ inc, 2018) Karaman, Kamuran; Akbayram, Sinan; Geylan, Hadi; Cetin, Mecnun
The Effects of Adenotonsillar Hypertrophy Corrective Surgery on Left Ventricular Functions and Pulmonary Artery Pressure in Children
(Elsevier Ireland Ltd, 2017) Cetin, Mecnun; Bozan, Naznn
Objective: Comparison of left ventricular functions in preoperative and postoperative periods of children with adenotonsillar hypertrophy (ATH) who have findings of upper airway obstruction (UAO), using echocardiographic parameters. Methods: Thirty children who were diagnosed with UAO due to ATH, and who have undergone adenoidectomy/adenotonsillectomy and 30 healthy children, between 2 and 11 years of age, were included in the study. Patient group was evaluated by the pulsed wave tissue Doppler echocardiography, as well as with conventional echocardiography, before and 6 months after the operation. Results: Of 30 children in study group, 18 (60%) had adenotonsillectomy and 12 (40%) had adenoidectomy. The differences between groups regarding myocardial performance index (MPI) was not statistically significant (p = 0.847). There was not any statistically significant difference between groups in terms of mitral isovolemic acceleration (MIVA) (2.28 +/- 0.67, 2.24 +/- 0.55, 223 +/- 0.49; p = 0.943, respectively). Interventricular septum diameter (IVSD) was significantly higher in preoperative group than postoperative and control groups (3.68 +/- 0.52, 3.50 +/- 0.40, 3.38 +/- 0.60; p = 0.028, respectively). Pulmonary acceleration time (PAcT) was found to be significantly lower in preoperative group compared to postoperative and control groups (107.64 +/- 16.60, 119.52 +/- 15.95, 120.47 +/- 16.19; p = 0.004, respectively). Mean pulmonary arterial pressure (mPAP) was significantly higher in preoperative group than postoperative and control groups (30.58 +/- 8.11, 25.23 +/- 9.07, 25.00 +/- 6.52; p = 0.002, respectively). In postoperative group mPAP was found to be similar to the control group. Conclusions: Clinical or subclinical left ventricle (LV) dysfunction in children with ATH who have findings of UAO was not determined while mean pulmonary arterial pressure was significantly higher compared with the control cases. Besides early adenotonsillectomy is a beneficial treatment option for these patients. (C) 2017 Elsevier B.V. All rights reserved.
Evaluation of Pentraxin 3 Level and Cardiac Functions in Psoriatic Children
(Turkish J Pediatrics, 2020) Cetin, Mecnun; Yavuz, Ibrahim Halil; Yavuz, Goknur Ozaydin; Karaman, Kamuran
Psoriasis is a chronic inflammatory disorder affecting the skin, nails, and joints. Its lifetime prevelance has been estimated to be at 1% to 3%. This study was designed to examine the association between serum pentraxin 3 (PTX3) and cardiovascular function in psoriatic children. Thirty-three children who were diagnosed with psoriasis, and 29 healthy children, between 4 and 18 years of age, were included in the study. Both patient and control group was evaluated by the pulsed wave tissue doppler imaging (TDI) echocardiography as well as with conventional Doppler echocardiography (CDE). PTX3 values of the groups were evaluated. There was no difference between cases and controls for age (9.67 +/- 3.72, 9.60 +/- 2.84 years, p=0.916, respectively). In evaluation of the left ventricle (LV) CDE; A wave, isovolumic relaxation time (IVRT) and myocardial performance index (MPI) were significantly higher in the study group (p<0.05). Ejection time (ET) was significantly lower in the study group compared to the control group (p<0.05). In evaluation of LV TDI; Deceleration time (DT'), IVRT', E/E' and MPI' were found to be significantly higher in the study group (p<0.05). In addition to, E', E'/A' and ET' were siginificantly lower in study group. PTX3 level was significantly higher in the study group compared to the control group (p=0.009) (Table III). However, no correlation was found between PTX3 level and cardiovascular parameters. In conclusion; both doppler echocardiography and PTX3 may be useful tools for the screening of cardiovascular (CV) risk in these patients. Psoriasis itself may be an independent risk factor for cardiac dysfunction in the pediatric population.
Evaluation of Renal Function Disorder With Urinary Neutrophil Gelatinase-Associated Lipocalin Level in Patients With Β-Thalassemia Major
(Lippincott Williams & Wilkins, 2019) Karaman, Kamuran; Sahin, Serdar; Geylan, Hadi; Yasar, Akkiz Sahin; Cetin, Mecnun; Komuroglu, Ahmet U.; Oner, Ahmet F.
Background and Aim: Neutrophil gelatinase-associated lipocalin (NGAL) is found in the granules of human neutrophils, with many diverse functions. Expression of NGAL is induced under various pathophysiological conditions, for example, infection, inflammation, kidney injury, cardiovascular disease, burn injury, and intoxication, and it has an important antiapoptotic and anti-inflammatory role. Patients and Methods: A total of 37 patients with thalassemia disease beta-thalassemia major (24 male and 13 female individuals) and 37 healthy controls (17 male and 20 female) were enrolled in this study. All patients were regularly transfused, and all of them were using oral chelator, deferasirox. Results: NGAL and cystatin C levels were significantly higher in the case group than in the control group. Conclusion: In patients with beta-thalassemia major, renal damage can occur owing to regular blood transfusion. Urinary NGAL levels in these patients may be considered as a marker for early renal injury.
Everolimus Treatment in a 3-Month Infant With Tuberous Sclerosis Complex Cardiac Rhabdomyoma, Severe Left Ventricular Outflow Tract Obstruction, and Hearing Loss
(Cambridge Univ Press, 2021) Cetin, Mecnun; Aydin, Aysun A.; Karaman, Kamuran
Tuberous sclerosis complex is a rare multisystem genetic disorder characterised by the growth of numerous tumour-like malformations in many parts of the body including skin, kidneys, brain, lung, eyes, liver, and heart. Mutations in the TSC1 or TSC2 genes have been reported to cause disruption in the TSC1-TSC2 intracellular protein complex, causing over-activation of the mammalian target of rapamycin protein complex. In this study, we present a 3-month-old male infant diagnosed with tuberous sclerosis, bilateral neurosensorial hearing loss, Wolff-Parkinson-White syndrome on electrocardiography, multiple cardiac rhabdomyomas with severe stenosis in the left ventricular outflow tract, who responded well to the Everolimus therapy.
Fecal Elastase Levels in Children Diagnosed With Functional Abdominal Pain-Not Otherwise Specified
(Turkish J Pediatrics, 2021) Guven, Burcu; Turan, Nuriye Burcin; Oner, Ahmet Fayik; Karaman, Kamuran; Cetin, Mecnun
Background. Although the exact pathophysiology of functional gastrointestinal diseases remains unclear, numerous etiologies have been blamed, including visceral hypersensitivity, gastrointestinal motility disorders, psychological factors, intestinal mucosal inflammation, intestinal microbiota, and post-infectious syndromes. In the present study, we aimed to evaluate pancreatic insufficient patients diagnosed withfiinctional abdominal pain-not otherwise specified (FAP-NOS) according to Rome IV criteria. Methods. The study included a total of 110 patients aged 4-17 years who were diagnosed with FAP-NOS according to Rome IV criteria. The control group consisted of 80 patients with no gastrointestinal disorders and chronic diseases. Glucose, amylase, lipase, pancreatic amylase, immunoreactive trypsinogen (IRT) and fecal elastase (FE-1) levels were examined for each patient. Results. No significant difference was found between the two groups with regard to lipase, pancreatic amylase, IRT, and serum glucose levels. However, the amylase levels were significantly higher and the FE-1 levels were significantly lower in the study group compared to the control group (p=0.007 and p<0.001). The cut-off value detected in in ROC analysis for the diagnostic value of FE-1 in predicting FAP-NOS was found to be 140.107 mu g/g. Based on this value, the sensitivity, specificity, PPV, and NPV of FE-1 were 82.1%, 66.2%, 77%, 73%, respectively. Accordingly, the likelihood of FE-1 in providing a positive value in patients with FAP-NOS was almost 9 times higher than in individuals without FAP-NOS. Conclusions. FE-1 levels were significantly lower in children diagnosed with FAP-NOS and we consider that this difference could be attributed to malabsorption secondary to dysbiosis as there is not enough data.
Hydatid Cyst Involvement of Both Pulmonary Arteries in a 14-Year Girl
(Taylor & Francis Ltd, 2018) Cetin, Mecnun; Karaman, Kamuran; Ozgokce, Mesut; Geylan, Hadi; Yildizeli, Bedrettin
Hydatid disease is the most common mediterranean parasitic infection; it commonly affects the liver and lungs and rarely involves multiple organs. A 14-year-old girl presented with a 1-year history of dyspnoea and fatigue. She was found to have pulmonary hypertension owing to hydatid cysts in the right ventricle and both pulmonary arteries. After administration of albendazole she underwent pulmonary endarterectomy and a calcified hydatid cyst was removed from the right ventricle. She made a complete recovery and remained on albendazole for 6 months.
Indicator of Early Kidney Injury in Adolescents With Polycystic Ovary Syndrome: Can Urine Ngal Level Be
(Taylor & Francis Ltd, 2021) Karaman, Serap; Sabanciogullari, Enis; Karaman, Erbil; Basaranoglu, Murat; Cetin, Mecnun; Karaman, Kamuran
Introduction and Purpose:The Urinary Neutrophil-gelatinase associated lipocalin (NGAL) levels which are a biomarker for early diagnosis of kidney damage that may develop in patients with Polycystic Ovary Syndrome (PCOS) were investigated in the study. Material and Methods:The 30 patients diagnosed with Polycystic Ovarian Syndrome between the ages of 13 and 18 who applied to the Yuzuncu Yil University General Children's Outpatient Clinic were included in the PCOS group and 30 healthy adolescents without any known acute or chronic illness and drug use were included in the control group. Findings:Urine NGAL value was 842.204 +/- 21.561 in PCOS group and 775.379 +/- 23.98 in control group. NGAL level in PCOS group was statistically significantly higher than control group (p: .045). When we examine the relationship between dyslipidemia and PCOS; While dyslipidemia was positive in 10 (33.7%) patients in the PCOS group, it was negative in 20 (66.7%) patients. While 1 patient had dyslipidemia, 29 patients did not have dyslipidemia in the control group. A significant relationship was found between dyslipidemia and PCOS (p: .005). Conclusion:We found that subclinical kidney dysfunction started in early stage patients in PCOS in our study. The urine NGAL level was thought to increase in response to increased oxidative stress in PCOS. We found no relationship between, insulin resistance and urea, BUN, creatinine and NGAL levels. However, we found a negative correlation between NGAL level and LDL. In addition, dyslipidemia, insulin resistance and ALT elevation were detected in the PCOS group.
Megacystis-Microcolon Hypoperistalsis Syndrome: a Case Report
(Hindawi Ltd, 2009) Melek, Mehmet; Edirne, Yesim; Beger, Burhan; Cetin, Mecnun
Megacystis Microcolon Intestinal Hypoperistalsis Syndrom (MMIHS) is a quite rare congenital and fatal disease which was firstly defined by Berdon and his colleagues. It appears through a widely enlarged bladder and microcolon and its cause is unknown (Berdon et al., 1976; Carmelo et al., 2005; Makhija et al., 1999; Loening-Baucke and Kimura 1999; Redman et al., 1984; Hsu et al., 2003; Yigit et al., 1996; Srikanth et al., 1993). The disease is found in females three or four times more than in males (Srikanth et al., 1993; Sen et al., 1993; Hirato et al., 2003). Most of the cases die within the early months of their lives (Yigit et al., 1996; Srikanth et al., 1993; Sen et al., 1993; Hirato et al., 2003). We present the case of a female newborn with antenatal ultrasound revealing intestinal mass and bilateral hydroureteronephrosis. The case was admitted for intestinal obstruction after birth. Copyright (C) 2009 Mehmet Melek et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Normal Values of Echocardiographic Parameters Indicating Right Ventricular Systolic Functions in 607 Healthy Children
(Briefland, 2023) Yilmaz, Munevver; Cetin, Mecnun; Dundar, Pinar Erbay; Coskun, Senol
Background: This study aimed to define the normal ranges of echocardiographic parameters that are used to evaluate right ven-tricular systolic functions. Methods: A total of 607 children within the age range of 0-18 years without any cardiac pathology or chronic disorders were in-cluded in the study. The study population was categorized into different age groups and underwent transthoracic echocardiog-raphy. In this study, tricuspid annular plane systolic excursion (TAPSE), tricuspid annular peak systolic velocity (TAPSV), and right ventricular myocardial performance index (RVMPI) values were measured. Results: There was no statistically significant difference between the mean TAPSE and TAPSV values of male and female subjects. The mean RVMPI was higher in females than in males. The study population was categorized into nine groups according to their age. The TAPSE, TAPSV, and RVMPI values were calculated for each group. Additionally, the 5th, 10th, 25th, 50th, 75th, 90th, and 95th percentiles, and +/- 2 standard deviation (SD) and +/- 3 SD values of TAPSE measurements were calculated for each age group. The study population was divided into eight groups according to their body surface area (BSA). Moreover, the 5th, 10th, 25th, 50th, 75th, 90th, and 95th percentiles of TAPSE measurements were calculated. There was a strong positive correlation between TAPSE and BSA. The TAPSE was also positively correlated with TAPSV but not with RVMPI. Conclusions: This study determined the normal values for TAPSV and RVMPI. It is important to have knowledge of the normal ranges of these parameters to recognize right ventricular dysfunction early in various cardiac disorders.
P Wave Dispersion, Tpeak-Tend Interval, and Tp-e/Qt Ratio in Children With Psoriasis
(Cambridge Univ Press, 2020) Cetin, Mecnun; Yavuz, Ibrahim H.; Gumustas, Mehmet; Yavuz, Goknur O.
Background: Psoriasis is a chronic inflammatory, multi-system disease that often begins in childhood and characterised by inflammatory skin, nails, scalp, and joint manifestations. The inflammation in psoriasis may promote some effect on the cardiac conduction system. Objective: The aim of this study is to investigate myocardial repolarisation anomaly on the conducting system in the paediatric psoriasis using P wave dispersion, Tpeak-Tend interval, and Tp-e/QT ratio. Methods: Forty-two patients diagnosed with psoriasis and 37 age- and sex-matched healthy children were enrolled in the study. Electrocardiographic parameters in psoriasis and control group were recorded from an electrocardiogram for each patient. Results: The results indicated that the parameters including Pdis, QTc dis, Tp-e dis interval, and Tp-e max/QTmax ratios, which are known to be key indicators for the prediction of severe atrial or ventricular arrhythmia and sudden cardiac death and also important parameters used as the indicators for the non-invasive evaluation of the transmural heterogeneity were significantly longer in the study group compared to the control group (p < 0.05). Conclusions: This study includes the evidence linking psoriasis with increased myocardial repolarisation heterogeneity. These findings suggest that this patient population may be at an increased risk for arrhythmias. Our findings may be a basis for further studies.
The Pattern of Tpeak-Tend Interval and Qtdis, and Pdis in Children With Brucellosis
(Oxford Univ Press, 2019) Cetin, Mecnun; Turfan, Nevzat; Karaman, Kamuran; Yasar, Akkiz Sahin; Guven, Burcu; Tuncdemir, Perihan
Objective: To investigate the effect of inflammation on the conducting system of the heart in patients diagnosed with brucellosis. Methods: A total of 42 patients diagnosed with brucellosis and 39 age and sex-matched healthy children were enrolled into the study. Pre- and post-treatment electrocardiographic parameters in brucellosis and control group were recorded from an electrocardiogram for each patient. Results: The results indicated that the parameters including Pmax, Pdis, QTmax, QTdis, QTcdis, Tp-edis interval and Tp-emax/QTmax and Tp-emax/QTcmax ratios, which are known to be key indicators for the prediction of severe atrial or ventricular arrhythmia and sudden cardiac death and also important parameters used as the indicators for the non-invasive evaluation of the transmural heterogeneity were significantly longer in the study group compared with the control group (p < 0.05). Conclusion: In this study, it was determined that the brucella disease had more cardiac involvement than thought, and this was more in the subclinical form of cardiac involvement.
Relation Between Vascular Endothelial Markers and Right Ventricular Function in the Children With Asthma
(Kowsar Corp, 2017) Cetin, Mecnun; Karaboga, Bertan; Yilmaz, Ozge; Yilmaz, Munevver; Yuksel, Hasan; Coskun, Senol
Objectives: The aim of the study was to evaluate the possible relationship of clinical severity during asthmatic exacerbation with the ventricular functions and the levels of vascular endothelial-related biomarkers endothelin-1 (ET-1) and platelet-derived growth factor-BB (PDGF-BB) in the condensed breathing air in the children with asthma. Methods: The study included a total of 80 children with acute asthmatic episode; of these, 28 had a mild, 26 had a moderate, and 26 had a severe attack. Samples of condensed breathing air were obtained for being analyzed for ET-1 and PDGF-BB levels during the study. All patients were evaluated by echocardiography at the beginning of the study and two weeks after the treatment of asthmatic episode. Results: Before treatment, mPAP in moderate and severe asthma groups was significantly higher than in mild asthma group (21.6 +/- 7.3, 30.1 +/- 9.8 and 32.7 +/- 7.8; P < 0.01, P < 0.001, respectively). After treatment, no significant difference was detected between the asthma groups (P > 0.05). Am and Em waves, and IVRT, IVCT, ET and RV MPI during the asthmatic attack and after treatment did not change significantly between the groups; pre-and post-treatment values of these parameters also did not show significant differences. In exhaled air samples of the group with severe asthma exacerbation ET-1 and PDGF-BB were higher than those in the moderate and mild group (0.80 +/- 0.42, 0.58 +/- 0.30, 0.50 +/- 0.15; P = 0.002 and 281.7 +/- 253.2, 167.3 +/- 148.1, 135.9 +/- 74.9; P = 0.008 respectively). Conclusions: Ourstudy resultsshowedthatmPAPin direct proportion with the increasedinflammatory cytokineswassignificantly higher in asthma attacks and levels of ET-1 and PDGF-BB were significantly increased with severity of asthma, indicating a vascular response.
Successful Treatment of Abdominal Aorto-Right Atrial Fistula by Vascular Plug: a Previously Unreported Cardiac Malformation
(Turkish Soc Cardiology, 2017) Alkan, Fatos; Pabuscu, Yuksel; Cetin, Mecnun; Coskun, Senol
Typhoid Fever Accompanied With Hematopoetic Lymphohistiocytosis and Rhabdomyolysis in a Refugee Child
(Lippincott Williams & Wilkins, 2019) Yasar, Akkiz Sahin; Karaman, Kamuran; Geylan, Hadi; Cetin, Mecnun; Guven, Burcu; Oner, Ahmet F.
Typhoid fever is an acute and systemic infectious disease that is specific to humans and is caused by Salmonella typhi. Patients may present with different findings ranging from simple fever to multiple organ failure. Hemophagocytosis and rhabdomyolysis are rare complications of typhoid fever. In this study, we presented a case of hemophagocytic lymphohistiocytosis and rhabdomyolysis in a 14-year-old girl who migrated from Mosul, Iraq, 1 month ago.
Wiskott-Aldrich Syndrome: Two Case Reports With a Novel Mutation
(Taylor & Francis inc, 2017) Kamuran, Karaman; Cetin, Mecnun; Geylan, Hadi; Karaman, Serap; Demir, Nihat; Yurekturk, Eyyup; Tuncer, Oguz
Background: The Wiskott-Aldrich syndrome (WAS) is X-linked recessive disorder associated with microplatelet thrombocytopenia, eczema, infections, and an increased risk of autoimmunity and lymphoid neoplasia. The originally described features of WAS include susceptibility to infections, microthrombocytopenia, and eczema.Aim: In this case report, we present our experience about two cases diagnosed with a new mutation.Methods: We report phenotypical and laboratory description of two cases with WAS.Results: We, for the first time, detected a new hemizygote mutation of WAS gene (NM_000377.2 p.M393lfs(*)102 (c.1178dupT)) in two patients. The first case was an 11-month-old boy presenting with complaints of recurrent soft tissue infection, ear infection, anemia, and thrombocytopenia with a low platelet volume. The second case was a 2-month-old boy presenting with thrombocytopenia and a low platelet volume. Both cases were the first-degree relatives: they were cousins and their mothers were sisters.Conclusion: Herein, we report two cases of WAS and a new gene mutation which would disrupt the WAS protein function within the Polyproline (PPP) domain. This report adds to the growing number of mutations which cause complex clinical manifestations associated with WAS.