Background. Premenstrual syndrome (PMS) is characterized by physical, cognitive, emotional, and behavioral symptoms that appear during the luteal phase of the menstrual cycle, disappear after menstruation, and are recurrent in every cycle. PMS significantly affects the social and academic lives of adolescents, and historically, it has been neglected by healthcare professionals. We aimed to evaluate the current point prevalence of PMS in Turkish adolescents presented to a tertiary adolescent medicine clinic. Material and Method. Adolescent girls between the ages of 12 and 18 and who had regular menstrual cycles for at least three months without any mental or chronic illness were assessed. A clinic information form and the ‘Premenstrual Syndrome Scale’ (PMSS) questionnaire were completed. Those with a PMSS total score of more than 50% of the total score (>110 out of 220) were classified as PMS (+). Those classified as PMS were further classified as mild-moderate (score: 110-150) and severe (>150). Results. The study included 417 adolescents. The point prevalence of PMS was found to be 61.2% (n:255). Of those with PMS, 49.4% had mild-moderate and 50.6% had severe PMS. The mean PMSS score was 154.56 ± 30.43 in the PMS group and 76.17 ± 20.65 in the non-PMS group (p<0.001). The mean age was 15.41 ± 1.3 years in the PMS group and 14.88 ± 1.35 years in the non-PMS group (p=0.029). None of the youth in our study applied to our clinic due to any premenstrual complaints. Conclusion. PMS is frequently observed in youth, as indicated by our study. Adolescents have little awareness of PMS and their need for healthcare services. During the evaluation of adolescents, it is important for health care providers to acquire knowledge regarding the features of menstrual cycles and conduct a comprehensive psychosocial assessment.
{"title":"Prevalence of premenstrual syndrome in adolescent girls","authors":"Özlem Akbulut, Laden Jafari, Demet Aygün Arı, Melis Pehlivantürk Kızılkan, O. Derman, Sinem Akgül","doi":"10.24953/turkjpediatr.2024.4669","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4669","url":null,"abstract":"Background. Premenstrual syndrome (PMS) is characterized by physical, cognitive, emotional, and behavioral symptoms that appear during the luteal phase of the menstrual cycle, disappear after menstruation, and are recurrent in every cycle. PMS significantly affects the social and academic lives of adolescents, and historically, it has been neglected by healthcare professionals. We aimed to evaluate the current point prevalence of PMS in Turkish adolescents presented to a tertiary adolescent medicine clinic.\u0000Material and Method. Adolescent girls between the ages of 12 and 18 and who had regular menstrual cycles for at least three months without any mental or chronic illness were assessed. A clinic information form and the ‘Premenstrual Syndrome Scale’ (PMSS) questionnaire were completed. Those with a PMSS total score of more than 50% of the total score (>110 out of 220) were classified as PMS (+). Those classified as PMS were further classified as mild-moderate (score: 110-150) and severe (>150).\u0000Results. The study included 417 adolescents. The point prevalence of PMS was found to be 61.2% (n:255). Of those with PMS, 49.4% had mild-moderate and 50.6% had severe PMS. The mean PMSS score was 154.56 ± 30.43 in the PMS group and 76.17 ± 20.65 in the non-PMS group (p<0.001). The mean age was 15.41 ± 1.3 years in the PMS group and 14.88 ± 1.35 years in the non-PMS group (p=0.029). None of the youth in our study applied to our clinic due to any premenstrual complaints.\u0000Conclusion. PMS is frequently observed in youth, as indicated by our study. Adolescents have little awareness of PMS and their need for healthcare services. During the evaluation of adolescents, it is important for health care providers to acquire knowledge regarding the features of menstrual cycles and conduct a comprehensive psychosocial assessment.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":" 17","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141680773","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}
Pub Date : 2024-07-03DOI: 10.24953/turkjpediatr.2024.4587
H. Arı, A. Anık, Şule Demir, Serkan Fazlı Çelik
Background. Myxedema coma is a rare, but life-threatening endocrinological emergency. Myxedema is characterized by altered mental status, and is accompanied by hypotension, bradycardia, hypothermia, bradypnea, hyporeflexia, hyponatremia, and hypoglycemia, all stemming from reduced metabolism due to severe hypothyroidism. Additionally, patients may exhibit signs of low cardiac output, edema in the extremities, peripheral circulatory disturbances, shock, and the development of pericardial and pleural effusions, ultimately leading to confusion and coma. We present a successfully treated case of severe myxedema coma with recurrent pericardial effusion and hypotensive shock. This case is characterized by an unusual clinical presentation and required a distinct treatment strategy highlighting its exceptional rarity. Case. A 2-year-old boy with Down syndrome presented with recurrent pericardial effusion attributed to medication non-adherence. The critically-ill patient, experiencing a severe cardiogenic shock required mechanical ventilation and inotropic infusions in the pediatric intensive care unit. Elevated thyroid stimulating hormone (TSH), and low free T4 (fT4) and free T3 (fT3) levels prompted consideration of myxedema coma. Upon reviewing the patient’s medical history, it was ascertained that he had an ongoing diagnosis of primary hypothyroidism, and exhibited non-adherence to the prescribed treatment regimen and failed to attend scheduled outpatient clinic appointments for follow-up assessments. The treatment plan, devised by the pediatric endocrinology team, included the peroral administration of L-thyroxine (L-T4) at a dose of 50 micrograms per day. After beginning regular oral L-T4 treatment, a gradual improvement in the patient’s condition was observed. Notably, by the 15th day of oral therapy, the patient had made a full recovery. Contrary to the recommended intravenous treatment for myxedema coma, this patient was successfully treated with oral levothyroxine, due to the unavailability of the parenteral form in Türkiye. Conclusions. This case report presents an instance of non-adherence to L-T4 therapy, which subsequently progressed to severe myxedema coma. Changes in neurologic status and hemodynamic instability in a patient with a history of hypothyroidism should raise the concern of nonadherence and, though rare, myxedema coma should be in the differential diagnosis.
{"title":"Severe myxedema coma and pericardial effusion in a child with Down syndrome: the importance of adherence to levothyroxine therapy","authors":"H. Arı, A. Anık, Şule Demir, Serkan Fazlı Çelik","doi":"10.24953/turkjpediatr.2024.4587","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4587","url":null,"abstract":"Background. Myxedema coma is a rare, but life-threatening endocrinological emergency. Myxedema is characterized by altered mental status, and is accompanied by hypotension, bradycardia, hypothermia, bradypnea, hyporeflexia, hyponatremia, and hypoglycemia, all stemming from reduced metabolism due to severe hypothyroidism. Additionally, patients may exhibit signs of low cardiac output, edema in the extremities, peripheral circulatory disturbances, shock, and the development of pericardial and pleural effusions, ultimately leading to confusion and coma. We present a successfully treated case of severe myxedema coma with recurrent pericardial effusion and hypotensive shock. This case is characterized by an unusual clinical presentation and required a distinct treatment strategy highlighting its exceptional rarity.\u0000Case. A 2-year-old boy with Down syndrome presented with recurrent pericardial effusion attributed to medication non-adherence. The critically-ill patient, experiencing a severe cardiogenic shock required mechanical ventilation and inotropic infusions in the pediatric intensive care unit. Elevated thyroid stimulating hormone (TSH), and low free T4 (fT4) and free T3 (fT3) levels prompted consideration of myxedema coma. Upon reviewing the patient’s medical history, it was ascertained that he had an ongoing diagnosis of primary hypothyroidism, and exhibited non-adherence to the prescribed treatment regimen and failed to attend scheduled outpatient clinic appointments for follow-up assessments. The treatment plan, devised by the pediatric endocrinology team, included the peroral administration of L-thyroxine (L-T4) at a dose of 50 micrograms per day. After beginning regular oral L-T4 treatment, a gradual improvement in the patient’s condition was observed. Notably, by the 15th day of oral therapy, the patient had made a full recovery. Contrary to the recommended intravenous treatment for myxedema coma, this patient was successfully treated with oral levothyroxine, due to the unavailability of the parenteral form in Türkiye.\u0000Conclusions. This case report presents an instance of non-adherence to L-T4 therapy, which subsequently progressed to severe myxedema coma. Changes in neurologic status and hemodynamic instability in a patient with a history of hypothyroidism should raise the concern of nonadherence and, though rare, myxedema coma should be in the differential diagnosis.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"50 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141683232","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}
Pub Date : 2024-07-01DOI: 10.24953/turkjpediatr.2024.4515
Çağrı Coşkun, A. Varan, N. Kurucu, B. Aydın, U. Özçelik, İnci Yaman Bajin, Eren Müngen, Ebru Yalçın, Diclehan Orhan, B. Oğuz, B. Yalçın, T. Kutluk, M. Haliloğlu
Background. Pulmonary Langerhans cell histiocytosis (pLCH) is a rare disease, mostly a component of multisystemic LCH. We aimed to investigate the clinical features and treatment results in children with pLCH. Methods. We retrospectively reviewed the clinical, radiological, and treatment data of 37 patients with pLCH, diagnosed from 1974 to 2022. Results. 10% (n=37) of 367 patients with LCH had lung involvement. The median age was 1.8 years (range: 0.4 & 17.7) with a male-to-female ratio of 2.3. At admission 29.7% (n=11) presented with respiratory symptoms. Imaging showed a spectrum from nodular opacities to multiple cysts. All but one patient had multisystem disease. Twenty-nine received vinblastine-containing therapy. Ten-year event-free (EFS) and overall survival (OS) rates were 47.8% and 63.3%, respectively. In children younger and older than two years of age, the 10-year EFS was 53.3% vs. 40.2% and the 10-year OS was 58.7% vs. 68.8%, respectively. In children with and without risk organ involvement, 10-year EFS was 51.9% vs. 46.3% and 10-year OS was 51.9% vs. 73.7%. Conclusions. Lung and multisystem involvement are significant concerns in LCH, highlighting the need for careful management to reduce morbidity and mortality.
{"title":"Pulmonary involvement in children with Langerhans cell histiocytosis","authors":"Çağrı Coşkun, A. Varan, N. Kurucu, B. Aydın, U. Özçelik, İnci Yaman Bajin, Eren Müngen, Ebru Yalçın, Diclehan Orhan, B. Oğuz, B. Yalçın, T. Kutluk, M. Haliloğlu","doi":"10.24953/turkjpediatr.2024.4515","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4515","url":null,"abstract":"Background. Pulmonary Langerhans cell histiocytosis (pLCH) is a rare disease, mostly a component of multisystemic LCH. We aimed to investigate the clinical features and treatment results in children with pLCH.\u0000Methods. We retrospectively reviewed the clinical, radiological, and treatment data of 37 patients with pLCH, diagnosed from 1974 to 2022.\u0000Results. 10% (n=37) of 367 patients with LCH had lung involvement. The median age was 1.8 years (range: 0.4 & 17.7) with a male-to-female ratio of 2.3. At admission 29.7% (n=11) presented with respiratory symptoms. Imaging showed a spectrum from nodular opacities to multiple cysts. All but one patient had multisystem disease. Twenty-nine received vinblastine-containing therapy. Ten-year event-free (EFS) and overall survival (OS) rates were 47.8% and 63.3%, respectively. In children younger and older than two years of age, the 10-year EFS was 53.3% vs. 40.2% and the 10-year OS was 58.7% vs. 68.8%, respectively. In children with and without risk organ involvement, 10-year EFS was 51.9% vs. 46.3% and 10-year OS was 51.9% vs. 73.7%.\u0000Conclusions. Lung and multisystem involvement are significant concerns in LCH, highlighting the need for careful management to reduce morbidity and mortality.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"7 20","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141698830","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}
Pub Date : 2024-06-06DOI: 10.24953/turkjpediatr.2024.4513
Aysu Kahraman, Ayşe Aksoy, Gökçen Öz Tunçer, S. Erdem, Ayşe Livanelioğlu
Background. Lower gestational age negatively affects the neurodevelopmental outcomes of infants. Early motor repertoire is a reliable way to predict neurodevelopmental outcomes. This study aimed to determine the correlation between gestational age and early motor repertoire in infants and also the roles of multiple pregnancies, gender, cranial utrasonography (USG) results, and birth weight in this relationship. Methods. This study included 139 infants, who were video recorded 9-17 weeks post-term. The recordings were evaluated using the Motor Optimality Score-Revised (MOS-R). Structural equation modeling tool was used for the path analysis of the models. Results. There was a weak positive correlation between gestational age and the MOS-R. In the relationship between gestational age and the MOS-R, multiple pregnancies, gender, and USG outcomes had a moderating effect. While abnormal USG, male gender, and singleton pregnancy increased this correlation to a moderate level, normal USG reduced the strength of the correlation. Female and twin pregnancies were non-significant in the model. Birth weight had a full mediating effect on the relationship between gestational age and the MOS-R. Conclusions. Infants with younger gestational age or lower birth weight, male infants, and infants with problems on cranial USG may have poorer early motor repertoire.
{"title":"The role of certain perinatal features in the early motor repertoire of infants","authors":"Aysu Kahraman, Ayşe Aksoy, Gökçen Öz Tunçer, S. Erdem, Ayşe Livanelioğlu","doi":"10.24953/turkjpediatr.2024.4513","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4513","url":null,"abstract":"Background. Lower gestational age negatively affects the neurodevelopmental outcomes of infants. Early motor repertoire is a reliable way to predict neurodevelopmental outcomes. This study aimed to determine the correlation between gestational age and early motor repertoire in infants and also the roles of multiple pregnancies, gender, cranial utrasonography (USG) results, and birth weight in this relationship.\u0000Methods. This study included 139 infants, who were video recorded 9-17 weeks post-term. The recordings were evaluated using the Motor Optimality Score-Revised (MOS-R). Structural equation modeling tool was used for the path analysis of the models.\u0000Results. There was a weak positive correlation between gestational age and the MOS-R. In the relationship between gestational age and the MOS-R, multiple pregnancies, gender, and USG outcomes had a moderating effect. While abnormal USG, male gender, and singleton pregnancy increased this correlation to a moderate level, normal USG reduced the strength of the correlation. Female and twin pregnancies were non-significant in the model. Birth weight had a full mediating effect on the relationship between gestational age and the MOS-R.\u0000Conclusions. Infants with younger gestational age or lower birth weight, male infants, and infants with problems on cranial USG may have poorer early motor repertoire.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"10 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141379374","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}
Pub Date : 2024-06-05DOI: 10.24953/turkjpediatr.2024.4569
Deniz İlgün Gürel, Hilal Ünsal, Elif Soyak Aytekin, Özge Soyer, Ü. Şahiner, S. Ersoy Evans, B. Sekerel
Background. Atopic dermatitis (AD) substantially burdens individuals, families, and healthcare systems. We aimed to document the treatment journey of pediatric patients with moderate-to-severe AD in a referral center based in our country. Methods. This retrospective study reviewed patients aged 1-18 years diagnosed with AD, seeking systemic treatment recommendations from the “pediatric allergy and dermatology multidisciplinary team meeting”. Results. Over the 14-month study period, 30 (12.5%) of 240 AD patients were evaluated in the pediatric dermato-allergy team meetings. The median age of the patients was 13.66 years (Q1-Q3: 7.94-17.27), of whom 60% were male. The median annual healthcare visits for AD were 4 (Q1-Q3: 1.00-8.75). Among the study group, 70% were sensitized to aeroallergens, and admission markers included total IgE (median: 1980 IU/mL, Q1-Q3: 794.50-5446), and eosinophil counts (median: 650, Q1-Q3: 275-1275). All patients utilized intermittent and/or continuous topical corticosteroids (CS), with 56.6% employing short-term/long-term topical tacrolimus. Over the past two years, systemic CSs were utilized in 93.3% of the patients, whereas 57.1% received more than one course. Approximately 43.3% of the patients agreed to receive systemic cyclosporine treatment, with only 30.8% benefiting and 3.3% reporting adverse effects (hypertrichosis and cellulitis). Three patients self-funded dupilumab, all benefiting without adverse effects. Omalizumab, mycophenolate mofetil and narrow-band ultraviolet (UV) treatments were used in one patient each, with limited benefit observed. Health insurance did not grant approval for a Janus kinase inhibitor for one patient. Conclusions. Managing moderate to severe AD is complex and costly, considering disease heterogeneity, comorbidities, care pathways, and health system challenges. Addressing the unmet needs should be a priority in Türkiye’s healthcare systems.
{"title":"The treatment journey of children with moderate to severe atopic dermatitis in Türkiye: unmet needs","authors":"Deniz İlgün Gürel, Hilal Ünsal, Elif Soyak Aytekin, Özge Soyer, Ü. Şahiner, S. Ersoy Evans, B. Sekerel","doi":"10.24953/turkjpediatr.2024.4569","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4569","url":null,"abstract":"Background. Atopic dermatitis (AD) substantially burdens individuals, families, and healthcare systems. We aimed to document the treatment journey of pediatric patients with moderate-to-severe AD in a referral center based in our country.\u0000Methods. This retrospective study reviewed patients aged 1-18 years diagnosed with AD, seeking systemic treatment recommendations from the “pediatric allergy and dermatology multidisciplinary team meeting”.\u0000Results. Over the 14-month study period, 30 (12.5%) of 240 AD patients were evaluated in the pediatric dermato-allergy team meetings. The median age of the patients was 13.66 years (Q1-Q3: 7.94-17.27), of whom 60% were male. The median annual healthcare visits for AD were 4 (Q1-Q3: 1.00-8.75). Among the study group, 70% were sensitized to aeroallergens, and admission markers included total IgE (median: 1980 IU/mL, Q1-Q3: 794.50-5446), and eosinophil counts (median: 650, Q1-Q3: 275-1275). All patients utilized intermittent and/or continuous topical corticosteroids (CS), with 56.6% employing short-term/long-term topical tacrolimus. Over the past two years, systemic CSs were utilized in 93.3% of the patients, whereas 57.1% received more than one course. Approximately 43.3% of the patients agreed to receive systemic cyclosporine treatment, with only 30.8% benefiting and 3.3% reporting adverse effects (hypertrichosis and cellulitis). Three patients self-funded dupilumab, all benefiting without adverse effects. Omalizumab, mycophenolate mofetil and narrow-band ultraviolet (UV) treatments were used in one patient each, with limited benefit observed. Health insurance did not grant approval for a Janus kinase inhibitor for one patient.\u0000Conclusions. Managing moderate to severe AD is complex and costly, considering disease heterogeneity, comorbidities, care pathways, and health system challenges. Addressing the unmet needs should be a priority in Türkiye’s healthcare systems.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"13 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141383593","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}
Background. Hemolytic uremic syndrome (HUS) is a serious cause of acute kidney injury in children. There is a suggestion that coronavirus disease 2019 (COVID-19) may be a trigger for HUS. In this study, we present a pediatric case diagnosed with HUS associated with COVID-19, which progressed to end-stage kidney disease. Case. A previously healthy 13-year-old girl with fever and vomiting was referred to our hospital. Laboratory investigations revealed direct Coombs-negative hemolytic anemia, thrombocytopenia and renal impairment accompanied by COVID-19 infection. Although anemia and thrombocytopenia showed improvement on the seventh day after admission, the renal impairment persisted. The histopathological findings of a renal biopsy were compatible with both HUS and COVID-19. One month later, the patient had a recurrence of HUS, again testing positive for COVID-19. Kidney function improved with plasma exchange therapy. Eculizumab treatment was recommenced after COVID-19 PCR became negative. Anemia and thrombocytopenia did not recur with eculizumab, while renal impairment persisted. Eculizumab was discontinued after three months when genetic analysis for HUS was negative. Subsequently, the patient was diagnosed with end-stage kidney disease. Conclusions. COVID-19 can be associated with HUS relapses, leading to chronic kidney disease. Further studies should investigate the mechanism of HUS associated with COVID-19.
{"title":"A pediatric case with hemolytic uremic syndrome associated with COVID-19, which progressed to end-stage kidney disease","authors":"Serra Sürmeli Döven, Esra Danacı Vatansever, Yasemin Yuyucu Karabulut, Berfin Özgökçe Özmen, Fatma Durak, Ali Delibaş","doi":"10.24953/turkjpediatr.2024.4524","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4524","url":null,"abstract":"Background. Hemolytic uremic syndrome (HUS) is a serious cause of acute kidney injury in children. There is a suggestion that coronavirus disease 2019 (COVID-19) may be a trigger for HUS. In this study, we present a pediatric case diagnosed with HUS associated with COVID-19, which progressed to end-stage kidney disease.\u0000Case. A previously healthy 13-year-old girl with fever and vomiting was referred to our hospital. Laboratory investigations revealed direct Coombs-negative hemolytic anemia, thrombocytopenia and renal impairment accompanied by COVID-19 infection. Although anemia and thrombocytopenia showed improvement on the seventh day after admission, the renal impairment persisted. The histopathological findings of a renal biopsy were compatible with both HUS and COVID-19. One month later, the patient had a recurrence of HUS, again testing positive for COVID-19. Kidney function improved with plasma exchange therapy. Eculizumab treatment was recommenced after COVID-19 PCR became negative. Anemia and thrombocytopenia did not recur with eculizumab, while renal impairment persisted. Eculizumab was discontinued after three months when genetic analysis for HUS was negative. Subsequently, the patient was diagnosed with end-stage kidney disease.\u0000Conclusions. COVID-19 can be associated with HUS relapses, leading to chronic kidney disease. Further studies should investigate the mechanism of HUS associated with COVID-19.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"20 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141106603","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}
Pub Date : 2024-05-23DOI: 10.24953/turkjpediatr.2024.4589
Sema Yildirim, Fatih Haşlak, Mehmet Yıldız, Amra Adrovic, A. Aliyeva, A. Günalp, E. Aslan, Elif Kılıç Könte, Ümit Gül, S. Şahin, K. Barut, Özgür Kasapçopur
Background. Given the strong genetic background of familial Mediterranean fever (FMF), the frequently reported co-existing diseases in children with FMF should also be investigated in other family members. Therefore, we aimed to examine the medical conditions of first-degree relatives (FDRs) of our pediatric patients with FMF in the present study. Methods. Chronic diseases of FDRs of pediatric 449 FMF, 147 juvenile idiopathic arthritis (JIA) patients and 93 healthy controls (HC) were questioned during their routine clinical visits for 9 consecutive months. Results. A total of 1975 FDRs of 449 FMF, 690 FDRs of 147 JIA patients, and 406 FDRs of 93 HC were included into the study. The most common medical conditions were non-atopic asthma (n=71, 3.6%), type 2 DM (n=14, 2%), and tonsillectomy history (n=12, 2.95%) in the FMF, JIA, and HC groups, respectively. Atopic diseases (FMF vs. JIA: p=0.013; FMF vs. HC: p=0.014), rheumatic diseases (FMF vs. JIA: p=0.030; FMF vs. HC: p=0.017), and surgical histories (FMF vs. JIA: p<0.01; FMF vs. HC: p=0.026), including adenoidectomy, tonsillectomy, and appendectomy, were significantly more common in the FMF group than in other groups. Conclusions. Our novel findings may contribute to understanding the hereditary burden of co-existing diseases in children with FMF and encourage further studies involving genetic screenings.
背景。鉴于家族性地中海热（FMF）具有很强的遗传背景，经常报道的 FMF 儿童并存疾病也应在其他家庭成员中进行调查。因此，在本研究中，我们旨在检查 FMF 儿童患者一级亲属（FDRs）的医疗状况。连续 9 个月在儿科 449 名 FMF 患者、147 名幼年特发性关节炎（JIA）患者和 93 名健康对照组（HC）患者的常规临床就诊期间对其一级亲属的慢性疾病进行了询问。研究共纳入了 449 名 FMF 患者的 1975 份 FDR、147 名 JIA 患者的 690 份 FDR 和 93 名 HC 患者的 406 份 FDR。在 FMF、JIA 和 HC 组中，最常见的病症分别是非特应性哮喘（71 人，占 3.6%）、2 型糖尿病（14 人，占 2%）和扁桃体切除术史（12 人，占 2.95%）。特应性疾病（FMF vs. JIA：p=0.013；FMF vs. HC：p=0.014）、风湿性疾病（FMF vs. JIA：p=0.030；FMF vs. HC：p=0.017）和手术史（FMF vs. JIA：p<0.01；FMF vs. HC：p=0.026），包括腺样体切除术、扁桃体切除术和阑尾切除术，在FMF组明显多于其他组。我们的新发现可能有助于了解FMF患儿并存疾病的遗传负担，并鼓励开展涉及基因筛查的进一步研究。
{"title":"Health conditions of first-degree relatives of children with familial Mediterranean fever","authors":"Sema Yildirim, Fatih Haşlak, Mehmet Yıldız, Amra Adrovic, A. Aliyeva, A. Günalp, E. Aslan, Elif Kılıç Könte, Ümit Gül, S. Şahin, K. Barut, Özgür Kasapçopur","doi":"10.24953/turkjpediatr.2024.4589","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4589","url":null,"abstract":"Background. Given the strong genetic background of familial Mediterranean fever (FMF), the frequently reported co-existing diseases in children with FMF should also be investigated in other family members. Therefore, we aimed to examine the medical conditions of first-degree relatives (FDRs) of our pediatric patients with FMF in the present study.\u0000Methods. Chronic diseases of FDRs of pediatric 449 FMF, 147 juvenile idiopathic arthritis (JIA) patients and 93 healthy controls (HC) were questioned during their routine clinical visits for 9 consecutive months.\u0000Results. A total of 1975 FDRs of 449 FMF, 690 FDRs of 147 JIA patients, and 406 FDRs of 93 HC were included into the study. The most common medical conditions were non-atopic asthma (n=71, 3.6%), type 2 DM (n=14, 2%), and tonsillectomy history (n=12, 2.95%) in the FMF, JIA, and HC groups, respectively. Atopic diseases (FMF vs. JIA: p=0.013; FMF vs. HC: p=0.014), rheumatic diseases (FMF vs. JIA: p=0.030; FMF vs. HC: p=0.017), and surgical histories (FMF vs. JIA: p<0.01; FMF vs. HC: p=0.026), including adenoidectomy, tonsillectomy, and appendectomy, were significantly more common in the FMF group than in other groups.\u0000Conclusions. Our novel findings may contribute to understanding the hereditary burden of co-existing diseases in children with FMF and encourage further studies involving genetic screenings. ","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"50 42","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141103309","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}
Pub Date : 2024-05-23DOI: 10.24953/turkjpediatr.2024.4511
Tuğba Daşar, Hasibe Nesligül Gönen, K. Kösemehmetoğlu, Ö. Tekşam, K. Boduroğlu, G. Utine, P. Ö. Şimşek Kiper
Background. Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of amorphous hyaline material in connective tissues. The hallmarks of the disease are joint contractures, generalized skin stiffness, hyperpigmented papules over extensor surfaces of joints, fleshy perianal masses, severe diarrhea, and gingival hypertrophy. The severity of the disease varies and prognosis is poor. No specific treatment is yet available. Most patients with the severe form of the condition pass away before the second year of age. In this study, we describe the clinical and molecular findings of a cohort of seven hyaline fibromatosis syndrome patients who were diagnosed and followed up at a single tertiary reference center in Turkey. Methods. Genomic DNA was extracted by standard salting out method from peripheric blood samples of three patients. In one patient DNA extraction was performed on pathology slides since peripheric blood DNA was not available. All coding exons of the ANTXR2 were amplified and sequenced on ABI Prism 3500 Genetic Analyser. Results. Sanger sequencing was performed in 3 patients and homozygous c.945T>G p.(Cys315Trp), c.1073dup p.(Ala359CysfsTer13), and c.1074del p.(Ala359HisfsTer50) variants were identified in ANTXR2. All patients passed away before the age of five years. Conclusions. HFS is a rare, progressive disorder with a broad phenotypic spectrum. HFS can be recognized easily with distinctive clinical features. Nevertheless, it has poor prognosis with increased mortality due to severe clinical decompensation.
{"title":"Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome","authors":"Tuğba Daşar, Hasibe Nesligül Gönen, K. Kösemehmetoğlu, Ö. Tekşam, K. Boduroğlu, G. Utine, P. Ö. Şimşek Kiper","doi":"10.24953/turkjpediatr.2024.4511","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4511","url":null,"abstract":"Background. Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of amorphous hyaline material in connective tissues. The hallmarks of the disease are joint contractures, generalized skin stiffness, hyperpigmented papules over extensor surfaces of joints, fleshy perianal masses, severe diarrhea, and gingival hypertrophy. The severity of the disease varies and prognosis is poor. No specific treatment is yet available. Most patients with the severe form of the condition pass away before the second year of age. In this study, we describe the clinical and molecular findings of a cohort of seven hyaline fibromatosis syndrome patients who were diagnosed and followed up at a single tertiary reference center in Turkey.\u0000Methods. Genomic DNA was extracted by standard salting out method from peripheric blood samples of three patients. In one patient DNA extraction was performed on pathology slides since peripheric blood DNA was not available. All coding exons of the ANTXR2 were amplified and sequenced on ABI Prism 3500 Genetic Analyser.\u0000Results. Sanger sequencing was performed in 3 patients and homozygous c.945T>G p.(Cys315Trp), c.1073dup p.(Ala359CysfsTer13), and c.1074del p.(Ala359HisfsTer50) variants were identified in ANTXR2. All patients passed away before the age of five years.\u0000Conclusions. HFS is a rare, progressive disorder with a broad phenotypic spectrum. HFS can be recognized easily with distinctive clinical features. Nevertheless, it has poor prognosis with increased mortality due to severe clinical decompensation.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"73 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141105926","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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