14 results on '"Tramma, Despoina"'
Search Results
2. Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus
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Böselt, Iris, Tramma, Despoina, Kalamitsou, Serafia, Niemeyer, Thomas, Nykänen, Päivi, Gräf, Klaus-Jürgen, Krude, Heiko, Marenzi, Karen Sabrina, Di Candia, Stefania, Schöneberg, Torsten, and Schulz, Angela
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- 2012
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3. A neonate with intrauterine growth restriction and pseudo‐Bartter syndrome due to severe maternal eating disorder: A case report.
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Babatseva, Evgeniya, Chatziioannidis, Ilias, Tagaraki, Alexia ‐ Angeliki, Tramma, Despoina, Dampala, Kalliopi, Chatzitoliou, Efthymia, Papacharalambous, Efthymia, Mitsiakos, Georgios, Tsakalidis, Christos, Karagianni, Paraskevi, Lithoxopoulou, Maria, Anastasiadis, Kleanthis, and Soubasi, Vasiliki
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FETAL growth retardation ,EATING disorders in women ,EATING disorders ,NEWBORN infants ,SYNDROMES - Abstract
Maternal diet before and during pregnancy plays an important role for the developing fetus. Any eating disorder in this period can cause transient or/and permanent negative effects on the mother and her offspring. [ABSTRACT FROM AUTHOR]
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- 2020
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4. The Role of TLR4 Asp299Gly and TLR4 Thr399Ile Polymorphisms in the Pathogenesis of Urinary Tract Infections: First Evaluation in Infants and Children of Greek Origin.
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Karananou, Panagiota, Tramma, Despoina, Katafigiotis, Socrates, Alataki, Anastasia, Lambropoulos, Alexandros, and Papadopoulou-Alataki, Efimia
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URINARY tract infections , *INFANTS , *GENETIC polymorphisms , *INFANT development , *CHILDREN , *BACTERIAL diseases - Abstract
Urinary tract infections are one of the most common and serious bacterial infections in a pediatric population. So far, they have mainly been related to age, gender, ethnicity, socioeconomic level, and the presence of underlying anatomical or functional, congenital, or acquired abnormalities. Recently, both innate and adaptive immunities and their interaction in the pathogenesis and the development of UTIs have been studied. The aim of this study was to assess the role and the effect of the two most frequent polymorphisms of TLR4 Asp299Gly and Thr399Ile on the development of UTIs in infants and children of Greek origin. We studied 51 infants and children with at least one episode of acute urinary tract infection and 109 healthy infants and children. We found that 27.5% of patients and 8.26% of healthy children carried the heterozygote genotype for TLR4 Asp299Gly. TLR4 Thr399Ile polymorphism was found to be higher in healthy children and lower in the patient group. No homozygosity for both studied polymorphisms was detected in our patients. In the group of healthy children, a homozygote genotype for TLR4 Asp299Gly (G/G) as well as for TLR4 Thr399Ile (T/T) was showed (1.84% and 0.92 respectively). These results indicate the role of TLR4 polymorphism as a genetic risk for the development of UTIs in infants and children of Greek origin. [ABSTRACT FROM AUTHOR]
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- 2019
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5. Comorbid presentation of syringomyelia and Guillain-Barre syndrome, attributed to mycoplasma, in a 6-year-old female patient.
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Vampertzi, Olga, Dalpa, Efterpi, Vavilis, Theofanis, and Tramma, Despoina
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Syringomyelia is the development of a fluid-filled cavity or syrinx within the spinal cord that can cause loss of sensation and muscle spasticity. Guillain-Barre syndrome (GBS) is a postinfection autoimmune disease, classified as an acute polyneuropathy. this report describes the emergency admission of a 6-year-old girl presenting with sudden pallor and pain in both lower limbs. The patient's reflexes were normal, as were the results of her sonography, radiography and biochemical tests; however, spinal MRI revealed extensive compartmentalised syringomyelia extending from C2 to T3. A sensory and motor nerve conduction study revealed a demyelinating type motor polyneuropathy which, along with positive Mycoplasma pneumoniae test, was suggestive of GBS. Intravenous immunoglobulin infusion showed excellent results. In conclusion, we report a rare paediatric case of syringomyelia coexisting with GBS. It is important to bear in mind the possibility of other coexisting diseases even if MRI reveals definitive characteristics of another condition. [ABSTRACT FROM AUTHOR]
- Published
- 2018
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6. Altered Expression of TLR2 and TLR4 on Peripheral CD14+ Blood Monocytes in Children with Urinary Tract Infection.
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Karananou, Panagiota, Fleva, Alexandra, Tramma, Despoina, Alataki, Anastasia, Pavlitou-Tsiontsi, Aikaterini, Emporiadou-Peticopoulou, Maria, and Papadopoulou-Alataki, Efimia
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ANTIGEN analysis ,CHI-squared test ,DISEASE susceptibility ,FLOW cytometry ,IMMUNOGLOBULINS ,MONOCYTES ,PEDIATRICS ,PROBABILITY theory ,URINARY tract infections ,DATA analysis software ,TOLL-like receptors ,DESCRIPTIVE statistics ,MANN Whitney U Test ,CHILDREN - Abstract
Urinary tract infection (UTI) is the second most common bacterial infection, after otitis media, in infants and children. The mechanisms of disease susceptibility and the role of immunity in the pathogenesis of UTI in children have been evaluated. In recent years, Toll-Like Receptors (TLRs) have been recognized as specific components of the innate immune system constituting important mediators in host immune recognition. The aim of the present study was to determine ΤLR2 and TLR4 expression during the acute phase of UTI in infants and children by measuring the CD14/TLR2 and CD14/TLR4 expression on monocytes. We also attempted to compare the TLRs expression with the immunological status of the patients to healthy children. The study group consisted of 60 children (36 females and 24 males) and the control group included 60 age-matched pediatric subjects (27 females and 33 males). In our study, no antibody deficiency was found either in the children with UTI or in healthy subjects. There might be a connection between low IgA, IgG, and IgG subclasses serum levels and UTI as there was a statistically significant difference between patients and healthy children. A higher expression of CD14/TLR2 was revealed in patients (90,07%) compared to controls (85,48%) as well as CD14/TLR4 in patients (90,53%) compared to controls (87,25%) (statistically significant difference, p<0,05). The results of this study could provide new understanding of UTIs’ pathogenesis in children. [ABSTRACT FROM AUTHOR]
- Published
- 2016
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7. Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).
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Spilioti, Martha, Evangeliou, Athanasios E., Tramma, Despoina, Theodoridou, Zoe, Metaxas, Spyridon, Michailidi, Eleni, Bonti, Eleni, Frysira, Helen, Haidopoulou, A., Asprangathou, Despoina, Tsalkidis, Aggelos J., Kardaras, Panagiotis, Wevers, Ron A., Jakobs, Cornelis, and Gibson, K. Michael
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AUTISM spectrum disorders ,DEHYDROGENASES ,PHENYLKETONURIA ,KETONES ,METABOLISM ,ELECTROENCEPHALOGRAPHY ,3-Hydroxybutyric acid - Abstract
We screened for the presence of inborn errors of metabolism (IEM) in 187 children (105 males; 82 females, ages 4-14 years old) who presented with confirmed features of autism spectrum disorder (ASD). Twelve patients (7%) manifested increased 3-hydroxyisovaleric acid (3-OH-IVA) excretion in urine, and minor to significant improvement in autistic features was observed in seven patients following supplementation with biotin. Five diagnoses included: Lesch Nyhan syndrome (2), succinic semialdehyde dehydrogenase (SSADH) deficiency (2), and phenylketonuria (1) (2.7%). Additional metabolic disturbances suggestive of IEMs included two patients whose increased urine 3-OH-IVA was accompanied by elevated methylcitrate and lactate in sera, and 30 patients that showed abnormal glucose-loading tests. In the latter group, 16/30 patients manifested increased sera beta hydroxybutyrate (b-OH-b) production and 18/30 had a paradoxical increase of sera lactate. Six patients with elevated b-OH-b in sera showed improved autistic features following implementation of a ketogenic diet (KD). Five patients showed decreased serum ketone body production with glucose loading. Twelve of 187 patients demonstrated non-specific MRI pathology, while 25/187 had abnormal electroencephalogram (EEG) findings. Finally, family history was positive for 22/187 patients (1st or 2nd degree relative with comparable symptomatology) and consanguinity was documented for 12/187 patients. Our data provide evidence for a new biomarker (3-OH-IVA) and novel treatment approaches in ASD patients. Concise 1 sentence take-home message: Detailed metabolic screening in a Greek cohort of ASD patients revealed biomarkers (urine 3-hydroxyisovaleric acid and serum b-OH-b) in 7% (13/187) of patients for whom biotin supplementation or institution of a KD resulted in mild to significant clinical improvement in autistic features. [ABSTRACT FROM AUTHOR]
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- 2013
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8. Tachycardia induced cardiomyopathy in an infant with atrial flutter: A challenging but reversible cause of heart failure.
- Author
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Thomaidis, Konstantinos, Papadopoulou-Legbelou, Kyriaki, Papadopoulou, Maria, and Tramma, Despoina
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HEART failure ,ATRIAL flutter ,TACHYCARDIA - Abstract
Highlights from the article: The electrocardiogram showed narrow QRS tachycardia with negative p waves in leads II, III, and aVF and positive p waves in lead V1 (Fig. AF is an uncommon arrhythmia during neonatal life and infancy and is the most frequently unrecognized etiology of dilated cardiomyopathy in children.[1] Occasionally, AF may be complicated by TIC, which is characterized by congestive heart failure and left ventricular dysfunction. Note the negative p wave with sawtooth pattern in leads II, III, and aVF with positive p waves in lead V1.
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- 2019
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9. Effect on Early Graft Function of High-Dose Desmopressin in Transplant Recipients with Bleeding Disorders.
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Tramma, Despoina, O'Brien, Catherine, and Hulton, Sally-Anne
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- 2013
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10. A pediatric case of atypical hemolytic uremic syndrome (aHUS): Could any infection play a triggering role?
- Author
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Gkiourtzis N, Panagopoulou P, Papadopoulou-Legbelou K, Chantavaridou S, and Tramma D
- Abstract
A 12-year-old boy was transferred to our pediatric department from a rural hospital for fever, cough, and vomiting associated with thrombocytopenia, non-immune hemolytic anemia, and acute kidney injury, leading to the diagnosis of hemolytic uremic syndrome (HUS). A nasopharyngeal swab and a lower respiratory sample detected Influenza A by polymerase chain reaction (PCR). The patient was treated with oseltamivir and intravenous fluids in addition to fresh frozen plasma (FFP). Enteropathogenic Escherichia coli (EPEC) was detected in a stool sample by PCR. Serum antibodies for Mycoplasma pneumoniae (IgM and IgG) and Helicobacter pylori (IgA and IgG) were increased. Further work-up revealed elevated serum C5b-9 suggesting a simultaneous viral and bacterial infection-mediated complement overactivation leading to the diagnosis of atypical HUS (aHUS). An association between aHUS and influenza A is reported in the literature, but the correlation of EPEC, Mycoplasma pneumoniae , and Helicobacter pylori with aHUS is not well-established. Fresh frozen plasma was administered for a total of 3 days, followed by clinical and laboratory improvement. The patient has remained asymptomatic until the latest follow-up, 5 months after discharge. This case demonstrates the potential triggering role of different pathogens in aHUS pathogenesis to raise awareness in the pediatric community., Competing Interests: None to be declared. Table 1.Laboratory investigations during hospitalization. LabsAdmission and initiation of treatment with FFP (day 4)Day after treatment with FFP (day 7)The day before the discharge (day 13)First follow-up (day 20)Second follow-up (day 50)WBC (103/μL)5.634.997.485.965.08Hb (g/dL)10.69.210.610.813.7PLT (103/μL)12150515404316Schistocytes (%)4.6////Cr (mg/dL)1.91.010.710.580.56Urea (mg/dL)13554382321LDH (U/L)1,765638134197154Total bilirubin (mg/dL)2.81.470.61/0.67Cr = creatinine; Hb = hemoglobin; FFP = fresh frozen plasma; LDH = lactate dehydrogenase; PLT = platelets; WBC = white blood cells., (© Dustri-Verlag Dr. K. Feistle.)
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- 2024
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11. Treatment and long-term outcome in primary nephrogenic diabetes insipidus.
- Author
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Lopez-Garcia SC, Downie ML, Kim JS, Boyer O, Walsh SB, Nijenhuis T, Papizh S, Yadav P, Reynolds BC, Decramer S, Besouw M, Perelló Carrascosa M, La Scola C, Trepiccione F, Ariceta G, Hummel A, Dossier C, Sayer JA, Konrad M, Keijzer-Veen MG, Awan A, Basu B, Chauveau D, Madariaga L, Koster-Kamphuis L, Furlano M, Zacchia M, Marzuillo P, Tse Y, Dursun I, Pinarbasi AS, Tramma D, Hoorn EJ, Gokce I, Nicholls K, Eid LA, Sartz L, Riordan M, Hooman N, Printza N, Bonny O, Arango Sancho P, Schild R, Sinha R, Guarino S, Martinez Jimenez V, Rodríguez Peña L, Belge H, Devuyst O, Wlodkowski T, Emma F, Levtchenko E, Knoers NVAM, Bichet DG, Schaefer F, Kleta R, and Bockenhauer D
- Abstract
Background: Primary nephrogenic diabetes insipidus (NDI) is a rare disorder and little is known about treatment practices and long-term outcome., Methods: Paediatric and adult nephrologists contacted through European professional organizations entered data in an online form., Results: Data were collected on 315 patients (22 countries, male 84%, adults 35%). Mutation testing had been performed in 270 (86%); pathogenic variants were identified in 258 (96%). The median (range) age at diagnosis was 0.6 (0.0-60) years and at last follow-up 14.0 (0.1-70) years. In adults, height was normal with a mean (standard deviation) score of -0.39 (±1.0), yet there was increased prevalence of obesity (body mass index >30 kg/m2; 41% versus 16% European average; P < 0.001). There was also increased prevalence of chronic kidney disease (CKD) Stage ≥2 in children (32%) and adults (48%). Evidence of flow uropathy was present in 38%. A higher proportion of children than adults (85% versus 54%; P < 0.001) received medications to reduce urine output. Patients ≥25 years were less likely to have a university degree than the European average (21% versus 35%; P = 0.003) but full-time employment was similar. Mental health problems, predominantly attention-deficit hyperactivity disorder (16%), were reported in 36% of patients., Conclusion: This large NDI cohort shows an overall favourable outcome with normal adult height and only mild to moderate CKD in most. Yet, while full-time employment was similar to the European average, educational achievement was lower, and more than half had urological and/or mental health problems., (© The Author(s) 2020. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.)
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- 2020
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12. Tachycardia induced cardiomyopathy in an infant with atrial flutter: A challenging but reversible cause of heart failure.
- Author
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Papadopoulou M, Tramma D, Thomaidis K, and Papadopoulou-Legbelou K
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- 2019
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- View/download PDF
13. Treatment and long-term outcome in primary distal renal tubular acidosis.
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Lopez-Garcia SC, Emma F, Walsh SB, Fila M, Hooman N, Zaniew M, Bertholet-Thomas A, Colussi G, Burgmaier K, Levtchenko E, Sharma J, Singhal J, Soliman NA, Ariceta G, Basu B, Murer L, Tasic V, Tsygin A, Decramer S, Gil-Peña H, Koster-Kamphuis L, La Scola C, Gellermann J, Konrad M, Lilien M, Francisco T, Tramma D, Trnka P, Yüksel S, Caruso MR, Chromek M, Ekinci Z, Gambaro G, Kari JA, König J, Taroni F, Thumfart J, Trepiccione F, Winding L, Wühl E, Ağbaş A, Belkevich A, Vargas-Poussou R, Blanchard A, Conti G, Boyer O, Dursun I, Pınarbaşı AS, Melek E, Miglinas M, Novo R, Mallett A, Milosevic D, Szczepanska M, Wente S, Cheong HI, Sinha R, Gucev Z, Dufek S, Iancu D, Kleta R, Schaefer F, and Bockenhauer D
- Subjects
- Acidosis, Renal Tubular complications, Acidosis, Renal Tubular genetics, Adolescent, Adult, Aged, Bicarbonates blood, Calcium urine, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Deafness complications, Deafness genetics, Deafness therapy, Female, Genetic Association Studies, Glomerular Filtration Rate, Hearing Loss, Sensorineural complications, Hearing Loss, Sensorineural genetics, Humans, Infant, Infant, Newborn, Male, Middle Aged, Mutation, Nephrocalcinosis complications, Nephrocalcinosis genetics, Nephrocalcinosis therapy, Rare Diseases complications, Vacuolar Proton-Translocating ATPases genetics, Young Adult, Acidosis, Renal Tubular therapy, Hearing Loss, Sensorineural therapy
- Abstract
Background: Primary distal renal tubular acidosis (dRTA) is a rare disorder, and we aimed to gather data on treatment and long-term outcome., Methods: We contacted paediatric and adult nephrologists through European professional organizations. Responding clinicians entered demographic, biochemical, genetic and clinical data in an online form., Results: Adequate data were collected on 340 patients (29 countries, female 52%). Mutation testing had been performed on 206 patients (61%); pathogenic mutations were identified in 170 patients (83%). The median (range) presentation age was 0.5 (0-54) years and age at last follow-up was 11.0 (0-70.0) years. Adult height was slightly below average with a mean (SD score) of -0.57 (±1.16). There was an increased prevalence of chronic kidney disease (CKD) Stage ≥2 in children (35%) and adults (82%). Nephrocalcinosis was reported in 88%. Nephrolithiasis was more common with SLC4A1 mutations (42% versus 21%). Thirty-six percent had hearing loss, particularly in ATP6V1B1 (88%). The median (interquartile range) prescribed dose of alkali (mEq/kg/day) was 1.9 (1.2-3.3). Adequate metabolic control (normal plasma bicarbonate and normocalciuria) was achieved in 158 patients (51%), more commonly in countries with higher gross domestic product (67% versus 23%), and was associated with higher height and estimated glomerular filtration rate., Conclusion: Long-term follow-up from this large dRTA cohort shows an overall favourable outcome with normal adult height for most and no patient with CKD Stage 5. However, 82% of adult patients have CKD Stages 2-4. Importance of adequate metabolic control was highlighted by better growth and renal function but was achieved in only half of patients., (© The Author(s) 2019. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.)
- Published
- 2019
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14. Spine pathology in a girl with upper limb pain: A co-incidence or a causal relationship?
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Gogou M, Spilioti M, Tramma D, Papadopoulou-Alataki E, and Evangeliou A
- Abstract
A 10-year-old girl was admitted to the Emergency Department due to a history of intermittent pain located in the left radiocarpal joint for a month, as well as in the interphalangeal joints of the left hand without any additional symptoms. Clinical examination revealed mild sensory deficits and diminished muscle strength of the left upper limb without any other pathologic findings. A Magnetic Resonance Imaging scan of the brain and spinal cord was performed, which confirmed a diagnosis of thoracic syringomyelia. We briefly discuss specific traits and diagnostic challenges of this entity in childhood. Our case highlights the difficulty in efficiently correlating a pathologic imaging finding with clinical neurologic symptoms and signs, as well as the value of a thorough clinical neurological evaluation. Furthermore, a clear discrimination of a causal relationship against an incidental co-existence of a radiological finding and a specific symptom is not always possible.
- Published
- 2017
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