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Thrombotic Microangiopathy in a Severe Pediatric Case of COVID-19
(Sage Publications Ltd, 2021) Dalkıran, Tahir; Kandur, Yaşar; Kara, Emine Manolya; Dağoğlu, Besra; Taner, Sevgin; Öncü, Doğan
In this case report, we report a pediatric patient with COVID-19 and atypical hemolytic uremic syndrome (aHUS). A 3-year-old girl with fever and respiratory distress was admitted to the hospital. The patient tested positive for COVID-19 by a PCR test. As her respiratory distress increased and blood gas indicated deep respiratory acidosis on the third day of the pediatric intensive care unit follow-up, the patient was intubated and ventilated. Thorax computerized tomography (CT) showed bilateral effusion and atelectasis. During her follow-up, the pleural effusion resolved but there were marked consolidation areas and ground glass opacities compatible with COVID-19 on the follow-up CT. On the 10th day, she became anuric and developed progressive thrombocytopenia and persistent microangiopathic hemolytic anemia, which were suggestive of HUS given a high creatinine level (1.9 mg/dl), an undetectable haptoglobin level, reticulocytosis (8%), and an LDH level of 2540 U/l. Direct Coombs test returned negative. Examination of a peripheral blood smear revealed schistocytes. Disseminated intravascular coagulation was ruled out by normal INR and PTT. In the light of the available findings, we considered the patient to have thrombotic microangiopathy (TMA) triggered by COVID-19. It was not a TTP-form of TMA but rather an aHUS type, based on an ADAMTS13 activity level >5%. Hence, plasmapheresis was performed with fresh frozen plasma (FFP). After 4 weeks, she became completely asymptomatic, and her hemodynamic parameters normalized. COVID-19 induced uncontrolled complement activation leading to the development of aHUS. Early diagnosis and treatment may reduce morbidity and mortality since its treatment options.
Thrombolysis with Systemic Recombinant Tissue Plasminogen Activator in Children: A Multicenter Retrospective Study
(Galenos Yayincilik, 2021) Zengin, Emine; Sarper, Nazan; Erdem, Arzu Yazal; Al, Işık Odaman; Evim, Melike Sezgin; Yaralı, Neşe; Belen, Burcu
Objective: This study aimed to evaluate systemic thrombolysis experiences with recombinant tissue plasminogen activator (rtPA). Materials and Methods: Retrospective data were collected from 13 Turkish pediatric hematology centers. The dose and duration of rtPA treatment, concomitant anticoagulant treatment, complete clot resolution (CCR), partial clot resolution (PCR), and bleeding complications were evaluated. Low-dose (LD) rtPA treatment was defined as 0.01-0.06 mg/kg/h and high-dose (HD) rtPA as 0.1-0.5 mg/kg/h. Results: Between 2005 and 2019, 55 thrombotic episodes of 54 pediatric patients with a median age of 5 years (range: 1 day to 17.75 years) were evaluated. These patients had intracardiac thrombosis (n=16), deep vein thrombosis (DVT) (n=15), non-stroke arterial thrombosis (n=14), pulmonary thromboembolism (PE) (n=6), and stroke (n=4). The duration from thrombus detection to rtPA initiation was a median of 12 h (range: 2-504 h) and it was significantly longer in cases of DVT and PE compared to stroke, non-stroke arterial thrombosis, and intracardiac thrombosis (p=0.024). In 63.6% of the episodes, heparin was initiated before rtPA treatment. LD and HD rtPA were administered in 22 and 33 of the episodes, respectively. Concomitant anticoagulation was used in 90% and 36% of the episodes with LD and HD rtPA, respectively (p=0.0001). Median total duration of LD and HD rtPA infusions was 30 h (range: 2-120 h) and 18 h (2-120 h), respectively (p=0.044). Non-fatal major and minor bleeding rates were 12.5% and 16.7% for LD and 3.2% and 25.8% for HD rtPA, respectively. At the end of the rtPA infusions, CCR and PCR were achieved in 32.7% and 49.0% of the episodes, respectively. The most successful site for thrombolysis was intracardiac thrombosis. HD versus LD rtPA administration was not correlated with CCR/PCR or bleeding (p>0.05). Conclusion: Systemic thrombolytic therapy may save lives and organs effectively if it is used at the right indications and the right times in children with high-risk thrombosis by experienced hematologists with close monitoring of recanalization and bleeding.
Therapeutic Plasma Exchange in Pediatric Patients: Results from a Single Center
(Georg Thieme Verlag Kg, 2024) Dalkıran, Tahir; Mercan, Mehmet; İpek, Sevcan; Güllü, Ufuk Utku; Kandur, Yaşar; Acipayam, Can; Dilber, Cengiz
Therapeutic plasma exchange (TPE) can be applied as an effective therapeutic option in children with hematological, neurological, nephrological, and autoimmune/rheumatic disorders. We aimed to report our TPE experience in pediatric patients. In this article, we retrospectively reviewed the records of pediatric patients who underwent TPE between 2019 and 2021. A total of 128 TPE sessions were performed in 25 patients (13 males,12 females; mean age 59.6 +/- 11.7 [3-198] months). The TPE indications were sepsis with/without multiorgan dysfunction syndrome in five patients, acute liver failure, hemolytic uremic syndrome caused by Shiga toxin, and autoimmune hemolytic anemia in three patients, respectively, multiple sclerosis, autoimmune encephalitis, and multisystem inflammatory syndrome in children (MIS-C) in two patients each, and myasthenia gravis crisis, meningococcemia, hemolytic uremic syndrome caused by coronavirus disease 2019, hemophagocytic lymphohistiocytosis, autoimmune encephalitis, and metabolic disease (fatty acid oxidation defect, liver failure) in one patient each. Based on our findings, we proposed that the American Society for Apheresis criteria should be updated according to newly described clinical conditions such as MIS-C.
The Relationship between Sphenoid Sinus, Carotid Canal, and Optical Canal in Paranasal Sinus Computed Tomography in Children
(Thieme Medical Publ Inc, 2023) Tursun, Serkan; Muluk, Nuray Bayar; İnal, Mikail; Goncuoğlu, Alper; Şencan, Ziya
Objectives The authors examined the structural differences in the paranasal sinus region at sphenoid sinus in the pediatric population. Methods Paranasal sinus computed tomography (PNSCT) images of 86 pediatric subjects (30 males, 56 females) were included. In 13 to 15 years of age group ( n =34) and >= 16 years of age group ( n =52), sphenoid sinus pneumatization (SSP), optic canal and carotid canal classifications and dehiscence evaluation were performed. Results In both sexes, type 1 and type 2 SS pneumatization were observed more frequently on both the right and left sides. On the right side, type 2> type 1; on the left side type 1> type 2 optic canals were detected in both gender. Type 3 optic canals were detected in 8.8 to 14.7% of the 13 to 15 years of age group; and 11.5 to 17.3% of >= 16 years of age group. Type 4 optic canals were detected in 2.9% of the 13 to 15 years of age group and 1.9% of the >= 16 years of age group bilaterally. Optic canal dehiscence was detected in 26.5% of the 13 to 15 years of age group and 17.3% of the >= 16 years of age group. Type 1 and type 2 carotid canals are most common in children, the percentages for type 3 carotid canals were 1.8 to 3.6% in children. Conclusion In pneumatized SS, optic canal classifications got increased values which showed protrusion into the sphenoid sinus wall. Therefore, in children, the surgeons must be very careful for optic canal being nearer to the sphenoid sinus walls.
The prevalence and diagnostic criteria of health-care associated infections in neonatal intensive care units in Turkey: A multicenter point- prevalence study
(Elsevier Taiwan, 2021) Demirdağ, Tuğba Bedir; Koç, Esin; Tezer, Hasan; Oğuz, Suna; Satar, Mehmet; Sağlam, Özge; Uygun, Saime Sündüz
Background: Healthcare-acquired infections (HAIs) in the neonatal period cause substantial morbidity, mortality, and healthcare costs. Our purpose was to determine the prevalence of HAIs, antimicrobial susceptibility of causative agents, and the adaptivity of the Centres for Disease Control and Prevention (CDC) criteria in neonatal HAI diagnosis. Methods: A HAI point prevalence survey was conducted in the neonatal intensive care units (NICUs) of 31 hospitals from different geographic regions in Turkey. Results: The Point HAI prevalence was 7.6%. Ventilator-associated pneumonia (VAP) and central line-associated bloodstream infections (CLABSI) and late onset sepsis were predominant. The point prevalence of VAP was 2.1%, and the point prevalence of CLABSI was 1.2% in our study. The most common causative agents in HAIs were Gram-negative rods (43.0%), and the most common agent was Klebsiella spp (24.6%); 81.2% of these species were extended spectrum beta-lactamase (ESBL) (& thorn;). Blood culture positivity was seen in 33.3% of samples taken from the umbilical venous catheter, whereas 0.9% of samples of peripherally inserted central catheters (PICCs) were positive. In our study, 60% of patients who had culture positivity in endotracheal aspirate or who had purulent endotracheal secretions did not have any daily FiO2 change (p = 0.67) and also 80% did not have any increase in positive end-expiratory pressure (PEEP) (p = 0.7). On the other hand, 18.1% of patients who had clinical deterioration compatible with VAP did not have endotracheal culture positivity (p = 0.005). Conclusions: Neonatal HAIs are frequent adverse events in district and regional hospitals. This at-risk population should be prioritized for HAI surveillance and prevention programs through improved infection prevention practices, and hand hygiene compliance should be conducted. CDC diagnostic criteria are not sufficient for NICUs. Future studies are warranted for the diagnosis of HAIs in NICUs.
The Frequency of Hepatitis B, Hepatitis C and Hepatitis G Virus in Patients with Beta-Thalassemia Major Who Receive Frequent Blood Transfusion
(Galenos Yayincilik, 2005) Şanlı, Cihat; Albayrak, Meryem; Nakipoğlu, Fikret; Gümrük, Fatma
The purpose of this study is to investigate the frequency of hepatitis B (HBV), hepatitis C (HCV) and hepatitis G (HGV) virus, the demographical characteristics and clinical information of patients with beta-thalassemia major who receive frequent blood transfusion. Seventy patients with beta-thalassemia major [36 (51.5%) male, 34 (48.5%) female] are included in our study. The age of the patients was between two and 24 years. Age, gender and clinical information (time of first transfusion, number of transfusions and hepatitis B vaccination) of the patients are recorded. HBsAg, anti-HBs, anti-HBc IgG, HBV-DNA, anti-HCV, HCV-RNA and HGV-RNA tested in all patients. Three (4.3%) patients tested HGV-RNA positive. HBsAg in 1 (1.4%) patient, anti-HBs in 66 (94.3%) patients, anti-HBc IgG in 23 (% 32.9) patients, anti-HCV in14 (20%) patients and in 5 (7.1%) HCV-RNA tested positive. There was no relationship between HGV-RNA positivity and factors such as age, gender, number of transfusion, time of first transfusion, serum ferritin or serum ALT levels. While average serum ALT levels of two patients with both HGV-RNA and HCV-RNA positive was higher than the other patients. In 4.3% of the patients who received frequent blood transfusion the HGV-RNA was detected. While HGV infection can co-exist with HBV and HCV infections, however, when it exists alone, pronounced increase in transaminase levels had not occured.
The Effects of Colchicine on the Histopathological Findings of Celiac Disease During Familial Mediterranean Fever Treatment
(Sage Publications Inc, 2022) Alpcan, Ayşegül; Gülerman, Hacer Fulya; Kandur, Yaşar; Tursun, Serkan; Zengin, Mehmet
Familial mediterranean fever (FMF) and Celiac Disease (CD) are both autoinflammatory and autoimmune diseases with common clinical features affecting the gastrointestinal system. Familial mediterranean fever may coexist with CD. Inflammatory cells and cytokines are up-regulated within the intestinal mucosa of patients with CD. In this perspective, lymphocyte infiltration to the lamina propria of the small intestinal mucosa is a critical pathological sign. In the present study, we aimed to find out whether the treatment of an FMF patient with colchicine affects the pathological signs of concomitant developed CD on the same patient. We retrospectively reviewed the medical records of 147 patients with FMF who were followed up in our center between 2015 and 2020. Of the 147 patients with FMF, 3 patients also had CD. In this report, we presented these 3 cases. The findings obtained in this study suggest that pathological findings may be misinterpreted in autoimmune diseases, such as CD, when patients administer anti-inflammatory treatments, such as colchicine.
The diagnostic value of pulmonary near-infrared spectroscopy in the early distinction of neonatal pneumonia from transient tachypnea of the newborn
(Wiley, 2023) Özdemir, Ferzane Ebrar; Alan, Serdar; Aliefendioglu, Didem
Aim: Pulmonary near-infrared spectroscopy (NIRS) is a new and promising tool for diagnosis of neonatal respiratory diseases (RD). The study aimed to determine the role of pulmonary regional oxygen saturation (pRSO(2)) values obtained by NIRS in the early distinction of neonatal pneumonia (NP) from transient tachypnea of the newborn (TTN). Methods: This prospective, observational, double-blind study was conducted in neonatal intensive care unit (NICU) between 2020 and 2021. Late preterm and term newborns hospitalized in the NICU due to the diagnosis of TTN and NP were included. Cerebral RSO2 and pRSO(2) values were measured during the 1st, 24th, 48th, and 72nd hours of hospitalization, using NIRS. Results: Of the eligible 40 infants, 65% (n: 26) were diagnosed as TTN and 35% (n: 16) as NP. The pRSO(2) values were significantly higher in theTTN group than the NP group for both apexes (75.3 +/- 8.7 vs. 69 +/- 5.4, p:.018, respectively) and lateral lung (77.8 +/- 6 vs. 72.7 +/- 6.2, p:.016, respectively) in the 1st hour of hospitalization. There were significant differences in pRSO(2)apex and pRSO(2)lateral values between the 1st and 24th hours of hospitalization and the 24th and 48th hours in the NP group (p(2):.001 for both). The optimal pRSO(2)apex cut-off value was >72% to predict the diagnosis of NP with a sensitivity of 78.6% and a specificity of 69.2%. Conclusion: Pulmonary NIRS may be considered as a feasible and promising diagnostic tool in late preterm and term infants with RD. It may also be helpful for the early differentiation of NP from TTN and the courses of these diseases.
Successful Treatment With Bortezomib for Refractory and Complicated Acquired Thrombotic Thrombocytopenic Purpura in an Adolescent Girl
(Lippincott Williams & Wilkins, 2021) Azapagasi, Ebru; Yazıcı, Mutlu Uysal; Eroğlu, Nilgün; Albayrak, Meryem; Kucur, Özge; Fettah, Ali
Thrombotic thrombocytopenic purpura (TTP) is a rare, dangerous, life-threatening disease characterized by microangiopathic hemolytic anemia and thrombocytopenia, along with organ dysfunction due to microangiopathy-related ischemia. Plasma exchange and steroids are used for initial treatment, and rituximab is often used in refractive patients. Caplacizumab, cyclophosphamide, and splenectomy are among other treatment options. It has been reported that bortezomib, a proteasome inhibitor, can be used in the management of refractory acquired TTP. Herein, we present a 16-year-old female patient who was monitored for acquired TTP and treated with high-dose steroids, plasma exchange, rituximab, cyclophosphamide, and N-acetylcysteine but developed renal, cardiac, gastrointestinal, and neurologic complications. The girl was then successfully treated with bortezomib, and she has been monitored in remission for 6 months. We consider that bortezomib is a beneficial treatment, especially in patients with refractory TTP.
Recent advances and developments in COVID-19 in the context of allergic diseases
(Wiley, 2021) Ding, Mei; Dong, Xiang; Sun, Yuan-li; Sokolowska, Milena; Akdis, Mubeccel; Van de Veen, Willem; Azkur, Ahmet Kürşat
Background Since the first reports of coronavirus disease 2019 (COVID-19) in Wuhan, China, in December 2019, there have been 198 million confirmed cases worldwide as of August 2021. The scientific community has joined efforts to gain knowledge of the newly emerged virus named severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the immunopathological mechanisms leading to COVID-19, and its significance for patients with allergies and asthma. Methods Based on the current literature, recent advances and developments in COVID-19 in the context of allergic diseases were reviewed. Results and Conclusions In this review, we discuss the prevalence of COVID-19 in subjects with asthma, attacks of hereditary angioedema, and other allergic diseases during COVID-19. Underlying mechanisms suggest a protective role of allergy in COVID-19, involving eosinophilia, SARS-CoV-2 receptors expression, interferon responses, and other immunological events, but further studies are needed to fully understand those associations. There has been significant progress in disease evaluation and management of COVID-19, and allergy care should continue during the COVID-19 pandemic. The European Academy of Allergy & Clinical Immunology (EAACI) launched a series of statements and position papers providing recommendations on the organization of the allergy clinic, handling of allergen immunotherapy, asthma, drug hypersensitivity, allergic rhinitis, and other allergic diseases. Treatment of allergies using biologics during the COVID-19 pandemic has also been discussed. Allergic reactions to the COVID-19 vaccines, including severe anaphylaxis, have been reported. Vaccination is a prophylactic strategy that can lead to a significant reduction in the mortality and morbidity associated with SARS-CoV-2 infection, and in this review, we discuss the proposed culprit components causing rare adverse reactions and recommendations to mitigate the risk of anaphylactic events during the administration of the vaccines.
Prospective Evaluation of the Correlation of Lung Ultrasonography Score and Blood Gas Parameters in Neonates With Respiratory Distress
(Springernature, 2023) Tandırcıoğlu, Ümit Ayşe; Melekoğlu, Nuriye Aslı
Introduction Lung ultrasonography (LUS) has become frequently used in neonatal intensive care units (NICU) because it is diagnostic, useful, harmless, radiation-free, and practical for bedside use due to its portability.Objective This study aimed to evaluate the association between lung ultrasound (LUS) scores and diagnoses of neonates hospitalized for respiratory distress and determine the value of the combined use of laboratory and imaging methods in patient evaluation by looking at the correlation between blood gas parameters and LUS score. Materials and methods Between March and July 2022, a total of 55 patients who were born term or premature and admitted due to respiratory distress in the NICU of Malatya Training and Research Hospital were included in the study. In this observational, prospective study, demographic information such as birth weights, gestational weeks, mode of delivery, Apgar scores, blood gas sample results, LUS results and scores, ventilation types, and discharge time were recorded during hospitalization in our unit. According to the newborns' clinical, laboratory, and radiologic evaluations, the diagnoses of respiratory distress syndrome (RDS), transient tachypnea of the newborn (TTN), or congenital pneumonia were made, and the relationship between the diagnoses and LUS scores was evaluated. The pH value and PCO2 value in the venous blood gas obtained on the day of LUS were recorded. Correlation analysis was performed between the LUS score and pH value, LUS score and PCO2 value.Results Twenty-seven newborns were diagnosed with TTN, 18 with RDS, and 10 with congenital pneumonia. There was a statistical difference between LUS scores and diagnoses (p<0.001). According to Spearman correlation analysis, a significant negative moderate correlation was found between LUS scores and venous blood gas pH value (p<0.001, r:-0.49). There was also a significant positive low, moderate correlation with venous blood gas PCO2 value (p<0.001, r:0.36).Conclusion This study demonstrates that LUS scoring has a role in determining the severity of disease and making diagnoses in patients hospitalized for respiratory distress. When LUS is widely used, it will be informative about the severity and prognosis of the disease, together with laboratory evaluation.
Pertussis; Still a Clinical Diagnosis
(Gazi Univ, Fac Med, 2006) Koçak, Ülker; Şanlı, Cihat; Albayrak, Meryem; Bulduk, Reyhan Erol; Saygı, Semra
Pertussis is an acute, contagious respiratory infection characterized by paroxysmal coughing episodes. The most important and severe complication in infants is respiratory failure due to pneumonia. We report the case of a 3-month-old infant without any immunization who presented with cough, whooping and cyanosis, and developed pneumonia on the second day and a leukemoid reaction on the sixth day of admission. The relation between pneumonia and mortality, especially in infants, and the prognostic impact of a leukemoid reaction are emphasized.
Mothers' knowledge, attitudes, and behaviour concerning childhood cancer in a rural Anatolian province
(Gazi Univ, Fac Med, 2009) Hizel, Selda; Toprak, Şule; Albayrak, Meryem; Şanlı, Cihat; Koçak, Ülker
Purpose: Cancer is a physical disease but it has mental and social components. It is usually perceived as an illness that suggests death involving feelings of guilt, panic, hostility, aggression, anxiety, loneliness, and helplessness. It was reported that 50% of the parents of cancer patients had psychiatric disorders and that 73% of these were depressive disorders. The main reason for the anxiety is the close association of the illness with death and a lack of knowledge about childhood cancers. The aim of this study was to evaluate the knowledge and attitudes and anxiety level of mothers regarding childhood cancers. Materials and Methods: This cross-sectional study examined 300 mothers of children who presented to Kirikkale University, Medical School, Pediatrics Department and two health centers in central Kirikkale. Questionnaires consisting of 38 questions were completed by a research assistant by face-to-face interviews after permission was obtained from the mothers. The mothers' knowledge was regarded as good if 8-10 of the 10 knowledge questions about cancer were answered correctly, while 4-7 indicated moderate knowledge and 0-3 poor knowledge. Results: At least one cancer patient in their close community was known to 40.3% of the mothers. Information on cancer was mostly obtained from healthcare centers (20.7%), the media (35.3%), friends and relatives (10.7%), or both the media and friends and relatives (33.3%). The most widely known childhood cancers were leukemia and lymphoma. The rate of cancer screening among the participants was 7.3% (n=22). There was no significant correlation between having a family member with cancer and undergoing screening for cancer (p>0.05). The three main reasons for cancer were stated as smoking, food, and alcohol. The rate of smoking among the mothers was 57% and smoking was more common among mothers with less knowledge although this difference was not statistically significant. Twenty-three percent of the participants thought that cancer could not be treated. Mostly mothers stated that they would feel great sorrow and would experience great anxiety if they had a child with cancer. Only 22.7% of the mothers had sufficient knowledge about cancer. Anxiety on a subject exists when the level of information is inadequate. However, we found no correlation between the anxiety levels and the level of information about cancer among the mothers. Moreover, 71.7% of the mothers stated that they would not tell their child if he or she were diagnosed with cancer, while 7.7% said that they would not know what to do in that situation. Conclusion: The level of kowledge about cancer among the public is inadequate and thisresults in subjective value judgments, which directly influence anxiety levels. Therefore, parents need to be informed more extensively about the prevention and treatment of cancer to decrease their anxiety.
Assessment of parents' knowledge regarding phenylketonuria and its affecting factors: a cross-sectional study
(African Field Epidemiology Network-Afenet, 2022) Öztürk, Fatma Üneşi; Bülbül, Selda Fatma; Alpcan, Ayşegül
Introduction: the management of phenylketonuria (PKU) is complex. Practical skills and knowledge of individuals taking care of PKU patients are important for treatment compliance. This study investigated parents' knowledge about PKU and its affecting factors. The study group consisted of 62 parents of PKU patients. Methods: data were collected using a ready-made questionnaire on sociodemographic characteristics, PKU and dietary treatment. Total knowledge score (KS) was calculated by giving 5 points for each correct answer. Results: the study included 34 mothers and 28 fathers; 90.3% of patients were diagnosed during the newborn screening program, 6.5% between ages 1 and 2, and 3.2% at age 6 or after. Among all, 38.7% presented to their follow-up appointments with their mothers, 61.3% with both their parents and none with their father alone. Mothers answered all questions more accurately than fathers. Mothers' and fathers' mean KSs were 73.97 +/- 12.72 and 53.04 +/- 22.25, respectively. The highest KS was obtained among parents whose children were 13 years of age or older. Conclusion: the presence of another family member, parents' education level, working status and professional qualifications, previous training on PKU and family's economic status were the affecting factors. Creating a PKU dietary plan requires knowledge and diligence. Patients and their parents should be periodically informed about the disease and dietary treatment in order to increase their level of knowledge.
Aseptic meningitis caused by Coronavirus OC43 in a child: A case report
(Bayrakol Medical Publisher, 2022) Demirbaş, Yasemin; Alpcan, Ayşegül; İnal, Mikail; Güney, Şeyma; Tursun, Serkan; Kandur, Yaşar
Human coronavirus OC43 (HCoV-OC43) is one of the coronaviruses that cause the mild cold. On the other hand, extra-respiratory manifestations such as cen-tral nervous system infections with HCoV-OC43 are very rarely reported. We present a case of a previously healthy immunocompetent child with acute aseptic meningitis, as a result of HCoV-OC43 who admitted to the emergency department with a complaint of unconsciousness.. Respiratory tract and cerebrospinal fluid culture showed HCoV-OC43 in viral screening. During the follow-up period, the patient was completely asymptomatic, with normalized consciousness. The clinicians should keep in mind that HCoV-OC43 can be the etiological agent in the differential diagnosis of aseptic meningitis in immunocompetent individuals with reversible neurological symptoms.
Alkaptonuria in Turkey: Clinical and molecular characteristics of 66 patients
(Elsevier, 2021) Kısa, Pelin Teke; Gündüz, Mehmet; Dorum, Sevil; Uzun, Özlem Ünal; Çakar, Nafiye Emel; Yıldırım, Gonca Kılıç; Erdol, Şahin
Alkaptonuria (AKU) is an inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase (HGD) as a result of a defect in the HGD gene. HGD enzyme deficiency results in accumulation of homogentisic acid (HGA) in the body, which in turn leads to multisystemic clinical symptoms. The present study aimed to investigate the presenting symptoms, age at diagnosis, and clinical and genetic characteristics of AKU patients followed-up in different centers in Turkey. In this cross-sectional, multicenter, descriptive study, medical records of 66 AKU patients were retrospectively evaluated. Patients? data regarding demographic, clinical and genetic characteristics were recorded. HGD database (http://hgddatabase.cvtisr.sk/) was used to identify HGD gene variants. Of the patients, 37 (56.1%) presented with isolated dark urine and 29 (43.9%) were diagnosed based on the clinical symptoms or family screening. One of these patients was on follow-up for 2 years due to Parkinsonism and was diagnosed with AKU on further analyses. Signs of ochronosis such as joint pain, low back pain and renal stones developed in childhood in 7 patients. Eight patients were diagnosed with depression via psychiatric evaluation. There were 14 (21.2%) patients operated on for ochronosis. The most frequent mutation observed in the patients was c.175delA, which was followed by c.674G > A and c.1007-2A > T mutations. Four novel mutations (c.189G > A, c.549+1G > T, c.1188+1G > A, and c.334 T > G) were identified in the patients included in the study. In addition to the known signs such as dark urine and skin pigmentation, symptoms involving different systems such as neurological findings and depression can also be encountered in AKU patients. The presence of a change in urine color needs to be questioned in patients presenting with different symptoms such as arthralgia/arthritis, renal stones or low-back pain, particularly in childhood, when skin ochronosis is not pronounced, and further examination should be performed.
A Case of Early Infantile Epileptic Encephalopathy Due to KCNQ2 Gene Mutation Presenting With Episodes of Hiccups
(Cureus Inc, 2022) Alan, Serdar; Vural, Sevde Nur; Aliefendioğlu, Didem; Senbil, Nesrin
Neonatal epilepsy syndromes are responsible for only 15% of the cases of neonatal seizure. An underlying genetic disorder can be detected in approximately 42% of this subgroup. KCNQ2 gene-associated epilepsies are very rare and more common presentations are self-limited familial neonatal epilepsy (SLFNE) and early infantile epileptic encephalopathies (EIEE). The most common initial seizure semiologies are tonic seizures with or without autonomic symptoms in EIEE resulting from KCNQ2 gene mutation. It is characterized by early neonatal onset seizures with suppression burst pattern on electroencephalogram and typically results in severe developmental delay. Therapeutic options for infants with KCNQ2-related EIEE are limited and there is no consensus about it in the literature. Herein, the neonate with EIEE with unexpected episodes of hiccups due to novel mutation of the KCNQ2 gene, which was reported second time, was presented and antiepileptic treatment strategies were discussed in the light of current literature.
Domestic Lifestyle and Nutritional Status of Children During Covid-19 Pandemics
(Galenos Publ House, 2021) Bülbül, Selda; Gülbahçe, Aliye; Göksen, Nil Koç; Ata, Ali Emrecan; Kocagözoğlu, Sevim Gonca
Objective: After Covid-19 pandemic was declared, a number of restrictions have been imposed all over the world. We aimed to detect changes in eating habits of children and adults during Covid-19 pandemic when lifestyle changes were inevitable due to these restrictions. Methods: This is a descriptive cross-sectional study. The data collection process was completed by online questionnaire forms sent via mail system. There were questions about demographic characteristics of the participants and their children, lifestyle changes during the pandemic period and awareness of the pandemic. Participants with more than one child were asked to use the information of their youngest children. In statistical analyzes we used Statistical Package for Social Science (SPSS) 20.0 for Windows. Pearson Chi-square test was used for comparisons of categorical variables. The significance level was accepted as p <= 0.05 in all statistical processes. Results: A total of 327 people between 19-65 years of age participated in this study, and 174 of them had children with a mean age of 6.8 years, including 96 (55.7%) boys and 78 (44.3%) girls. Among all children, physical activity decreased in 101 (58%), screen time increased in 87 (50%) and 40 (23%) of them consumed their meals in front of the screen. The snacking habits of 130 (74.8%) children increased, 34 (19.5%) started consuming too much junk food and 12 of them (6.9%) gained weight. We observed that boys consumed more food than girls during their stay at home when compared to usual prerestriction days as they felt anxious and troubled (p=0.02). Conclusion: Pandemics do not affect our lives not only with disease burden but also, have effects on daily lives of families and children. During this period, besides precautions against infection, special interest should be given to feeding, sleeping habits and physical activities that would boost immune system and measures should be taken to prevent harmful habits.
Diagnostic Approach in Cystinuria: A Case Report
(Galenos Publ House, 2021) Bülbül, Selda; Gülbahçe, Aliye; Kocagözoğlu, Sevim Gonca
Cystinuria is an, inherited metabolic disorder progressing with recurrent kidney stones due to impaired reabsorption of dibasic amino acids and arises from mutations in the SLC3A1 and SLC7A9 on chromosome 2. Cystine crystals were detected in the urinalysis of a 17 -year -old male patient who was investigated for recurrent kidney stones. Because of demonstration of cystine excretion in the urinary amino acid analysis and having positive family history, we suspected Cystinuria Type B and initiated supportive therapy. However, based on the results of molecular analyses his diagnosis was changed as Cystinuria Type A. In conclusion, our final diagnosis was changed according to the molecular analyses but our treatment approach did not change. Therefore we would like to emphasize that, prominent physical examination findings and supportive laboratory test results will be sufficient for the diagnosis of cystinuria.
Allergic Contact Dermatitis to Temporary Black Henna Tattoo Due to Sensitization to Para-Phenylenediamine
(Bilimsel Tip Yayinevi, 2021) Dibek Misirlioglu, Emine; Tanidir, Merve; Büyüktiryaki, Betül; Kanık Yüksek, Saliha; Şahiner, Neriman; Güvenir, Hakan; Azkur, Dilek
The fashion for temporary black henna tattoo is becoming increasingly more common among young adults and teens. An adolescent case with itching, erythema, edema, and inflammatory discharge on the right forearm two days after a temporary tattoo application is presented in this report. To determine the contact sensitizer, a patch test was performed one month after the end of the treatment. A bullous strong positive reaction (3+) was observed against para-phenylenediamine at the 48th and 72nd hours of evaluation after the application. Despite the common belief that henna tattoo application is harmless, the ingredients used in henna tattoo especially paraphenylenediamine can lead to allergenic reactions that can even be severe.

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