Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 19 de 19
Filtrar
1.
Front Cardiovasc Med ; 10: 1115389, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36760557

RESUMEN

Background: Coronavirus disease 2019 (COVID-19) in children is rarely severe. However, severe courses occur, especially in the presence of risk factors. A minority of children develop pediatric inflammatory multisystem syndrome (PIMS) with substantial morbidity. While the importance of cardiac involvement after PIMS is well established, its role after severe acute COVID-19 remains unclear. We aim to compare cardiac sequelae of children after severe acute COVID-19 using cardiac MRI and compare them with patients after PIMS. Methods: For this prospective cohort study, we recruited patients with acute COVID or PIMS in a single center. Clinical follow-up, lab work, ECG, and echocardiography were done within 2 days after disease onset and 3-6 months after discharge. At the last visit 3-6 months later, cardiac MRI (CMR) with late gadolinium enhancement (LGE) was performed to evaluate cardiac sequelae and compare both groups. Results: Data were obtained from n = 14 patients with PIMS and n = 7 patients with severe acute COVID-19. At the start of the respective disease, left ventricular (LV) ejection fraction was reduced in seven patients with PIMS but none in the acute COVID-19 group. Transient mitral valve insufficiency was present in 38% of patients, of whom PIMS accounted for 7/8 cases. Eight patients (38%) with PIMS presented coronary artery abnormalities, with normalization in 7/8 patients. A significant decrease in LV mass index 3-6 months after disease onset was observed in both groups. MRI follow-up revealed non-ischemic myocardial pattern of LGE in 12/21 patients- in all (6/6) after severe acute COVID-19 and in less than half (6/14) after PIMS. Normal body weight-adjusted stroke volumes and end-diastolic volumes were found in 20/21 patients. Conclusions: We show that children suffering from severe acute COVID-19 have a similar, or worse, cardiac risk profile as patients with PIMS. Both patient groups should therefore receive close pediatric cardiac follow-up examinations. Cardiac MRI is the technique of choice, as most patients presented with delayed LGE as a sign of persistent cardiac injury despite normalization of laboratory and echocardiographic findings.

2.
Methods Mol Biol ; 2303: 789-805, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-34626423

RESUMEN

Evaluating prospective anticoagulant therapies in animal thrombosis and bleeding models are standard pre-clinical approaches. Mice are frequently used for initial evaluations because a variety of models have been developed in this well-characterized species, and mice are relatively inexpensive to maintain. Because mice seem to be resistant to forming "spontaneous" thrombosis, vessel injury is used to induce intravascular clot formation. For the purpose of testing heparin-based drugs, we adapted a well-established model in which thrombus formation in the carotid artery is induced by exposing the vessel to ferric chloride. For studying anticoagulant effects on venous thrombosis, we use a model in which the inferior vena cava is ligated and the size of the resulting clots are measured. The most common adverse effect of anticoagulation therapy is bleeding. We describe a simple tail bleeding time that has been used for many years to study the effects of anticoagulants on hemostasis. We also describe a more reproducible, but more technically challenging, saphenous vein bleeding model that is also used for this purpose.


Asunto(s)
Anticoagulantes/química , Trombosis , Animales , Anticoagulantes/farmacología , Modelos Animales de Enfermedad , Hemorragia , Heparitina Sulfato , Ratones , Estudios Prospectivos , Trombosis/tratamiento farmacológico
3.
Molecules ; 26(11)2021 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-34200418

RESUMEN

This paper reports the synthesis of branched alkylene guanidines using microfluidic technologies. We describe the preparation of guanidine derivatives at lower temperatures, and with significantly less time than that required in the previously applicable method. Furthermore, the use of microfluidics allows the attainment of high-purity products with a low residual monomer content, which can expand the range of applications of this class of compounds. For all the samples obtained, the molecular-weight characteristics are calculated, based on which the optimal condensation conditions are established. Additionally, in this work, the antiviral activity of the alkylene guanidine salt against the SARS-CoV-2 virus is confirmed.


Asunto(s)
Antivirales/síntesis química , Antivirales/farmacología , Guanidinas/síntesis química , Guanidinas/farmacología , Microfluídica/métodos , SARS-CoV-2/efectos de los fármacos , Animales , COVID-19 , Espectroscopía de Resonancia Magnética con Carbono-13 , Chlorocebus aethiops , Concentración 50 Inhibidora , Espectrometría de Masa por Ionización de Electrospray , Células Vero
4.
Folia Med (Plovdiv) ; 59(3): 357-361, 2017 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-28976901

RESUMEN

Spinal neurofibroma is one of the rarest of the neoplasms involving the spinal cord or roots and occurs much less often than neurinoma, meningioma or glioma. The sixth pediatric case of solitary intramedullary tumor was described in 2013, according to B. Eljebbouri et al. We present a rare, difficult to diagnose and may-be the seventh pediatric case of solitary neurofibroma of the cauda equine in an 11-month-old infant. The patient underwent a laminectomy of T12, L1, L2 and L3, extirpation of intradural, intramedullary and extramedullary spinal cord tumor. The patient is fully recovered for 5 years of monitoring. Although rare, spinal neurofibromas in children should be diagnostically considered and radically treated for a favorable outcome.


Asunto(s)
Imagen por Resonancia Magnética/métodos , Neurofibroma/diagnóstico , Neurofibroma/cirugía , Neoplasias de la Médula Espinal/diagnóstico , Neoplasias de la Médula Espinal/cirugía , Biopsia con Aguja , Diagnóstico Tardío , Humanos , Inmunohistoquímica , Lactante , Masculino , Neurofibroma/diagnóstico por imagen , Neurofibroma/patología , Pronóstico , Enfermedades Raras , Medición de Riesgo , Neoplasias de la Médula Espinal/diagnóstico por imagen , Neoplasias de la Médula Espinal/patología , Resultado del Tratamiento
5.
Folia Med (Plovdiv) ; 59(1): 43-52, 2017 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-28384108

RESUMEN

BACKGROUND: Development of biomarkers for autism spectrum disorder (ASD) has still remained a challenge to date. Recently, alterations of the expression of microRNAs (miRNAs) in peripheral blood, serum and post-mortem brain tissue have been linked to ASD. miRNAs are known to be secreted by various cell types and can mediate transmission of information into recipient cells and to modulate their physiological functions. On this basis it is assumed that circulating miRNAs could be useful biomarkers for the diagnosis or prognosis of pathological conditions. AIM: The aim of this study was to test whether circulating miRNAs display differential expression profile in serum of ASD patients. PATIENTS AND METHODS: The relative expression levels of 42 miRNAs were analyzed by stem-loop qRT-PCR assay in the serum of ASD patients compared to healthy controls. RESULTS: The results indicated that 11 miRNAs in ASD patients were substantially higher expressed than these in control subjects, and 29 miRNAs were lower expressed, respectively. In addition, target gene analysis displayed that the altered serum miRNAs targeted some important genes like alpha 1C subunit of voltage-dependent calcium channel, L type, (CACNA1C), beta 1 subunit of voltage-dependent calcium channel (CACNB1) and other genes involved in epigenetic processes like dicer 1, coding ribonuclease type III (DICER). CONCLUSION: Our results suggested that differentially expressed miRNAs in serum might be involved in ASD molecular pathways, and serum miR-424-5p, miR-197- 5p, miR-328-3p, miR-500a-5p, miR-619-5p, miR-3135a, miR-664a-3p, and miR- 365a-3p might be able to serve as potential biomarkers for ASD because they displayed significant alterations in the expression profile in children diagnosed with ASD.


Asunto(s)
Trastorno del Espectro Autista/genética , MicroARNs/genética , Canales de Calcio Tipo L , Estudios de Casos y Controles , Niño , Preescolar , ARN Helicasas DEAD-box , Epigénesis Genética , Femenino , Humanos , Secuencias Invertidas Repetidas , Masculino , Reacción en Cadena en Tiempo Real de la Polimerasa , Ribonucleasa III
6.
Case Rep Pediatr ; 2017: 5483543, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28316855

RESUMEN

Central nervous system (CNS) involvement in Henoch-Schonlein purpura (HSP) is rare but poses diagnostic difficulties. The aim of the study was to establish the frequency of CNS involvement in HSP, to analyze its clinical characteristics and do a literature review. Medical files of patients with HSP admitted at the Department of Pediatrics, Plovdiv, were studied retrospectively for a five-year period (2009-2013). Diagnosis was based on the American College of Rheumatology criteria. Out of 112 children with HSP 1 case (0.9%) had CNS involvement presenting as Posterior Reversible Encephalopathy Syndrome (PRES), which may be a result of CNS vasculitis or arterial hypertension. It was an 8-year-old girl with atypical HSP which started with abdominal pain requiring surgery. On the third day after the operation a transient macular rash and arterial hypertension appeared, followed by visual disturbances, hemiconvulsive epileptic seizures, postictal hemiparesis, and confusion. Head CT showed occipital hypodense lesions and MRT-T2 hyperintense lesion in the left occipital lobe. The patient experienced a second similar episode after 2 weeks when palpable purpura had also appeared. Neurological symptoms and MRI resolved completely. HSP can be an etiological factor for PRES in childhood. Although PRES is a rare complication of HSP, clinicians must be aware of it and avoid diagnostic and therapeutic delays.

7.
PLoS One ; 11(10): e0165172, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27764259

RESUMEN

INTRODUCTION: Factor (F) XI supports both normal human hemostasis and pathological thrombosis. Activated FXI (FXIa) promotes thrombin generation by enzymatic activation of FXI, FIX, FX, and FV, and inactivation of alpha tissue factor pathway inhibitor (TFPIα), in vitro. Some of these reactions are now known to be enhanced by short-chain polyphosphates (SCP) derived from activated platelets. These SCPs act as a cofactor for the activation of FXI and FV by thrombin and FXIa, respectively. Since SCPs have been shown to inhibit the anticoagulant function of TFPIα, we herein investigated whether SCPs could serve as cofactors for the proteolytic inactivation of TFPIα by FXIa, further promoting the efficiency of the extrinsic pathway of coagulation to generate thrombin. METHODS AND RESULTS: Purified soluble SCP was prepared by size-fractionation of sodium polyphosphate. TFPIα proteolysis was analyzed by western blot. TFPIα activity was measured as inhibition of FX activation and activity in coagulation and chromogenic assays. SCPs significantly accelerated the rate of inactivation of TFPIα by FXIa in both purified systems and in recalcified plasma. Moreover, platelet-derived SCP accelerated the rate of inactivation of platelet-derived TFPIα by FXIa. TFPIα activity was not affected by SCP in recalcified FXI-depleted plasma. CONCLUSIONS: Our data suggest that SCP is a cofactor for TFPIα inactivation by FXIa, thus, expanding the range of hemostatic FXIa substrates that may be affected by the cofactor functions of platelet-derived SCP.


Asunto(s)
Plaquetas/metabolismo , Factor XIa/metabolismo , Lipoproteínas/metabolismo , Polifosfatos/metabolismo , Factor VIIa/metabolismo , Humanos , Cinética , Lipoproteínas/antagonistas & inhibidores , Polifosfatos/química , Polifosfatos/aislamiento & purificación , Unión Proteica , Tromboplastina/metabolismo , Zinc/química
8.
Methods Mol Biol ; 1229: 483-96, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25325974

RESUMEN

Evaluating anticoagulants in animal thrombosis models is a standard component of preclinical drug testing. Mice are frequently used for these initial evaluations because a variety of thrombosis models have been developed and are well characterized in this species, and the animals are relatively inexpensive to maintain. Because mice have a natural resistance to forming intravascular thrombi, vessel injury is required to induce intravascular clot formation. Several methods have been established for inducing arterial or venous thrombosis in mice. For the purpose of testing heparin-based drugs, we adapted a well-established model in which thrombus formation in the carotid artery is induced by exposing the vessel to ferric chloride. For studying anticoagulant effects on venous thrombosis, we use a model in which the inferior vena cava is ligated and the size of the resulting clots is measured. The most common adverse effect of anticoagulation therapy is bleeding. The effect of heparin-based anticoagulants can be tested in mice in a simple tail bleeding assay.


Asunto(s)
Anticoagulantes/uso terapéutico , Heparitina Sulfato/uso terapéutico , Animales , Anticoagulantes/farmacología , Cloruros , Modelos Animales de Enfermedad , Compuestos Férricos , Hemorragia/tratamiento farmacológico , Heparitina Sulfato/farmacología , Ratones Endogámicos C57BL , Cola (estructura animal) , Trombosis/tratamiento farmacológico , Vena Cava Inferior/efectos de los fármacos , Vena Cava Inferior/patología
9.
Mol Genet Metab ; 113(1-2): 76-83, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25087164

RESUMEN

Investigation of 31 of Roma patients with congenital lactic acidosis (CLA) from Bulgaria identified homozygosity for the R446* mutation in the PDHX gene as the most common cause of the disorder in this ethnic group. It accounted for around 60% of patients in the study and over 25% of all CLA cases referred to the National Genetic Laboratory in Bulgaria. The detection of a homozygous patient from Hungary and carriers among population controls from Romania and Slovakia suggests a wide spread of the mutation in the European Roma population. The clinical phenotype of the twenty R446* homozygotes was relatively homogeneous, with lactic acidosis crisis in the first days or months of life as the most common initial presentation (15/20 patients) and delayed psychomotor development and/or seizures in infancy as the leading manifestations in a smaller group (5/20 patients). The subsequent clinical picture was dominated by impaired physical growth and a very consistent pattern of static cerebral palsy-like encephalopathy with spasticity and severe to profound mental retardation seen in over 80% of cases. Most patients had a positive family history. We propose testing for the R446* mutation in PDHX as a rapid first screening in Roma infants with metabolic acidosis. It will facilitate and accelerate diagnosis in a large proportion of cases, allow early rehabilitation to alleviate the chronic clinical course, and prevent further affected births in high-risk families.


Asunto(s)
Acidosis Láctica/genética , Efecto Fundador , Mutación , Complejo Piruvato Deshidrogenasa/genética , Acidosis Láctica/diagnóstico , Adolescente , Niño , Preescolar , Codón , Consanguinidad , Análisis Mutacional de ADN , Femenino , Genotipo , Humanos , Lactante , Recién Nacido , Masculino , Fenotipo , Rumanía , Eslovaquia
10.
Indian J Pharmacol ; 46(4): 430-2, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25097284

RESUMEN

OBJECTIVES: To investigate the antiplatelet activity of alpha-lipoic acid (α-LA) and dihydroquercetin (DHQ). METHODS: Antiplatelet activity of the α-LA and DHQ was evaluated in rich platelet plasma of rat. The platelet aggregation was induced by adenosine diphosphate (ADP) in concentration of 4 × 10(-5) M. RESULTS: α-LA and DHQ inhibited platelet aggregation in concentration-dependent manner. The antiplatelet activity of α-LA was more pronounced than DHQ. DHQ also increased the antiplatelet activity of α-LA by 1.4 times. CONCLUSION: Combined simultaneous use of α-LA and DHQ possessed the high antiplatelet activity, and DHQ potentiated the activity of α-LA.


Asunto(s)
Adenosina Difosfato/farmacología , Inhibidores de Agregación Plaquetaria/farmacología , Agregación Plaquetaria/efectos de los fármacos , Quercetina/análogos & derivados , Ácido Tióctico/farmacología , Animales , Plaquetas/citología , Plaquetas/efectos de los fármacos , Células Cultivadas , Relación Dosis-Respuesta a Droga , Masculino , Plasma Rico en Plaquetas , Quercetina/farmacología , Ratas Wistar
11.
Clin Neurol Neurosurg ; 115(9): 1775-83, 2013 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-23688445

RESUMEN

UNLABELLED: Migraine is common in pediatric neurology practice, while migraine variants are rare and pose diagnostic problems. OBJECTIVE: The aim was to establish the occurrence of migraine variants in pediatric neurology practice and among migraine, and to discuss their presentation. PATIENTS AND METHODS: The files of 2509 newly diagnosed patients, aged 0-18 years, treated as in- and out-patients in the Neuropediatric Ward at the Plovdiv Medical University Hospital between 2002 and 2006 were examined retrospectively. Migraine forms were diagnosed according to ICHD-II. Benign paroxysmal torticolis and alternating hemiplegia of childhood were also accepted as migraine variants according to proposed diagnostic criteria in the appendix of ICHD-II. Some specific forms like acute confusional migraine (ACM), Alice in wonderland syndrome (AWS), ophthalmoplegic migraine were also diagnosed although not included as migraine variants in the ICHD-II classification. RESULTS: 111 patients met diagnostic criteria for migraine. Patients with migraine variants comprised 24.3% of migrainous cases. Basilar type migraine was the most common (6.3% of all migrainous patients), followed by benign paroxysmal vertigo (5.4%), hemiplegic migraine (3.6%), ACM (2.7%), benign paroxysmal torticolis (2.7%), typical aura without headache (1.8%), abdominal migraine (1.8%), AWS (0.9%), ophthalmoplegic migraine (0.9%) and cyclical vomiting (0.9%). Alternating hemiplegia of childhood and retinal migraine was not found. Some patients either presented or were classified as different migraine variants. CONCLUSION: Basilar type migraine was the most common migraine variant. ACM and AWS should be regarded as distinct entities in the ICHD as migraine with complex aura. Benign paroxysmal torticollis also deserves its place as a migraine variant. Cases of ophthalmoplegic migraine with spontaneous remission and no cranial nerve enhancement on MRI should be considered as migraine form. Analyzing migraine variants will contribute to better awareness and adequate diagnosis.


Asunto(s)
Trastornos Migrañosos/epidemiología , Adolescente , Síndrome de Alicia en el País de las Maravillas/epidemiología , Niño , Preescolar , Coma/epidemiología , Epilepsia/epidemiología , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Trastornos Migrañosos/clasificación , Trastornos Migrañosos/diagnóstico , Migraña con Aura/epidemiología , Migraña Oftalmopléjica/epidemiología , Tortícolis/epidemiología , Vértigo/epidemiología , Vómitos/epidemiología , Vómitos/etiología
12.
Folia Med (Plovdiv) ; 55(3-4): 46-55, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-24712282

RESUMEN

AIM: To suggest diagnostic combinations of symptoms for migraine and tension type headache (TTH), and for differentiation of overlapping headache (classified as either migraine or TTH) through evaluation of the diagnostic value of combinations of characteristics included in the International Headache Society diagnostic criteria for migraine and TTH in children and adolescents. PATIENTS AND METHODS: The study comprised an epidemiological school-based study (412 of 1029 pupils with chronic/recurrent headache) and a clinical study conducted in the Pediatric Neurology Ward and outpatient clinic at Plovdiv Medical University Hospital (203 patients with chronic/recurrent headache). An inclusion criterion was at least two episodes of headache during the last year. Exclusion criteria were: headache occurring only during acute infections; withdrawal of informed consent. Headache was classified according to the International Classification of Headache Disorders 2nd edition (ICHD-II) The diagnostic value of all combinations of items in criteria C and D for migraine and TTH was measured by sensitivity, specificity, and odds ratio. RESULTS: The combination "unilateral location, severe intensity, aggravation by physical activity" had 100% specificity for migraine. The combination "bilateral location, pressing-tightening quality, mild intensity, no aggravation by physical activity" had 100% specificity for TTH. The combinations: "migrainous location, severe intensity, aggravation by physical activity", "severe intensity, nausea", "pulsating quality, nausea", "pulsating quality, migrainous location, aggravation by physical activity" seemed to pose the greatest risk for developing migraine. These combinations--"no nausea, no photophobia", "bilateral location, mild intensity and either no aggravation by physical activity or pressing-tightening quality, or no nausea or no photophobia" increased the most the TTH risk. Using these combinations as additional criteria for overlapping headache we classified 50% of overlapping headache as TTH and 8.3% as migraine. CONCLUSIONS: Some combinations of symptoms clarify the diagnosis of migraine and TTH. More than 50% of overlapping headache could be differentiated as TTH or MWA by the proposed combinations.


Asunto(s)
Trastornos Migrañosos/diagnóstico , Cefalea de Tipo Tensional/diagnóstico , Adolescente , Niño , Femenino , Humanos , Masculino , Trastornos Migrañosos/clasificación , Cefalea de Tipo Tensional/clasificación
13.
Folia Med (Plovdiv) ; 54(4): 45-52, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23441469

RESUMEN

UNLABELLED: Data on cytomegalovirus infection (CMV) prevalence and course in hospitalized infants are rather scarce, obsolete and considerably inconsistent. AIM: to determine the prevalence, rate of clinical manifestations, risk factors and predictive capacity of clinical manifestations of CMV infection in hospitalized infants during their first year of life. PATIENTS AND METHODS: All 163 infants hospitalized in the Pediatric Ward for Nonrespiratory Pathology in a tertiary hospital were serologically screened for cytomegalovirus infection for 10 months. In infants up to 6 months old that were CMV IgG (+) and CMV IgM (-) we followed up the CMV IgG concentration or compared it with that of their mothers. RESULTS: The CMV prevalence for the entire study sample was 33.1 +/- 3.7% (54 seropositive out of 163 examined infants); in newborns it was 19.4 +/- 6.7% (7 of 36), in infants aged 1-3 months--23.8 +/- 5.4% (15 of 63), in 4-6-month olds--28.1 +/- 8.1% (9 of 32), and in 7-12-month old--71.9 +/- 8.1% (23 of 32). The rates of clinically apparent infections in the respective groups was 33.3 +/- 6.5%, 57.01 +/- 20.2%, 53.3 +/- 13.3%, 33.3 +/- 16.6%, and 13.0 +/- 7.17%. The overall rate of clinically apparent CMV infection in all 163 children was between 11.0 +/- 2.5% and 17.2 +/- 2.9%. The probability of CMV infection increased with age and duration of breastfeeding. Hepatitis, cerebral vasculopathy and pneumonia (alone or combined) turned out to be predictors of CMV infection, but none of these symptoms had a frequency greater than 22%. CONCLUSIONS: We found a high rate of cytomegalovirus infections in hospitalized infants less than one year of age. This infection is the reason why at least 10% of the newborns and 12% of the children aged 1 to 3 months were hospitalised. The course was clinically apparent in over half of the infected children of up to 3 months of age.


Asunto(s)
Niño Hospitalizado/estadística & datos numéricos , Infecciones por Citomegalovirus/epidemiología , Bulgaria/epidemiología , Citomegalovirus/inmunología , Citomegalovirus/aislamiento & purificación , Infecciones por Citomegalovirus/diagnóstico , Infecciones por Citomegalovirus/microbiología , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Prevalencia , Pronóstico , Estudios Prospectivos , Factores de Riesgo , Centros de Atención Terciaria/estadística & datos numéricos
14.
Folia Med (Plovdiv) ; 54(4): 37-44, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23441468

RESUMEN

AIM: To study the development of children with selectively treated cytomegalovirus infection. PATIENTS AND METHODS: We studied prospectively a risk group of 12 children with cytomegalovirus infection. These children were diagnosed by serological screening in the first three months after birth and are defined as congenital and perinatal infections. Thirteen infants with no serological evidence of previous or present cytomegalovirus infection at 4-12 months of age were used as controls. Ganciclovir in a dose of 10-15 mg/kg/day for at least 2 weeks followed by 5-7.5 mg/kg/day administered intravenously for at least 2 weeks more was given to 4 children from the risk group with PCR confirmed cytomegalovirus infection: to one with suspected congenital infection that presented with encephalitis, to two children with abnormal auditory evoked potentials (AEPs) and other non-neurological symptoms of a suspected congenital infection, and to one child with proven congenital infection with systemic manifestations. There was no infant with cytomegalic inclusion disease in the study. All other children in the risk group that had clinically manifested infection received isoprinosine in a dose of 50 mg/kg for one month. RESULTS: Psychomotor development delay at age three was found in two children from the risk group and in one child in the control group. There was no difference between the two groups regarding the frequency of paroxysmal events, sensory deficiency or frequent illnesses. CONCLUSIONS: The prognosis in cases of cytomegalovirus infection diagnosed at three years of age and treated selectively can be similar to that in infection free 3-year-old children (if there are no cases of CMV inclusion disease).


Asunto(s)
Antivirales/efectos adversos , Desarrollo Infantil/efectos de los fármacos , Infecciones por Citomegalovirus/tratamiento farmacológico , Ganciclovir/efectos adversos , Trastornos Psicomotores/inducido químicamente , Desempeño Psicomotor/efectos de los fármacos , Antivirales/uso terapéutico , Preescolar , Protocolos Clínicos , Citomegalovirus/genética , Citomegalovirus/inmunología , Infecciones por Citomegalovirus/complicaciones , Infecciones por Citomegalovirus/congénito , Infecciones por Citomegalovirus/diagnóstico , Ganciclovir/uso terapéutico , Humanos , Lactante , Recién Nacido , Inyecciones Intravenosas , Inosina Pranobex/efectos adversos , Inosina Pranobex/uso terapéutico , Atención Perinatal , Pronóstico , Estudios Prospectivos , Trastornos Psicomotores/diagnóstico , Factores de Tiempo
15.
Folia Med (Plovdiv) ; 52(3): 62-9, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-21053675

RESUMEN

Hypoglycemia is not an independent diagnosis. It is a pathophysiological syndrome whose cause needs to be identified. Identifying it is just the first step to making the diagnosis as precisely as possible and to preventing brain damage. Timely diagnosis and treatment are factors of paramount importance for the prognosis of affected patients. The aim of this study was to present two of our patients with hyperinsulinemic hypoglycemia because of the rarity of the condition and to propose a diagnostic-therapeutic algorithm of hypoglycemic syndrome in childhood. Identifying the genetic mutations using DNA analysis for both children enabled us to determine the prognosis and to provide genetic counseling about the next pregnancies in the affected families. We make a detailed classification of different types of hypoglycemia and the various therapeutic modalities: dietary, medicinal and surgical depending on the etiology. It is concluded that the highly specialized examinations which ensure the etiological diagnose, treatment, prognosis and genetic consultation demand the participation of a well trained medical team--both in the clinical division and in the laboratory.


Asunto(s)
Hiperinsulinismo/diagnóstico , Hipoglucemia/diagnóstico , Algoritmos , Terapia Combinada , Análisis Mutacional de ADN , Diazóxido/uso terapéutico , Dietoterapia , Femenino , Predisposición Genética a la Enfermedad , Glucosa/administración & dosificación , Humanos , Hiperinsulinismo/genética , Hiperinsulinismo/terapia , Hipoglucemia/genética , Hipoglucemia/terapia , Lactante , Recién Nacido , Masculino , Mutación Puntual , Somatostatina/uso terapéutico
16.
Folia Med (Plovdiv) ; 50(4): 55-62, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-19209531

RESUMEN

UNLABELLED: Cryptic chromosome aberrations are a common cause of idiopathic mental retardation and multiple congenital malformations syndromes (MR/MCM). MATERIAL AND METHODS: This study describes results and compares three methods for detection of submicroscopic chromosome aberrations in 76 children with MR/MCM and normal routine G-banded karyotype. RESULTS: Cryptic chromosome aberrations were detected in 15 patients (19.7%): in 3 of 19 patients (15.8%) by subtelomeric fluorescent in situ hybridization (FISH), in 5 of 47 patients (10.6%) by Multiplex Ligation Dependent Probe Amplification (MLPA) and in 7 of 23 patients (30.4%) by array-Comparative Genome Hybridization (array-CGH). Seven deletions, four duplications and four complex rearrangements have been diagnosed in the present study. Six were de novo and 2 were inherited from a parent carrier of balanced translocation. DISCUSSION: We observed a slightly higher imbalance incidence compared to the literature. Among these aberrations there were well known syndromes as well as some rare variants. CONCLUSION: This study confirms the utility of molecular-cytogenetic screening in patients with MR/MCM. We suggest array-CGH as the most reliable technique with a high diagnostic yield.


Asunto(s)
Anomalías Múltiples/genética , Aberraciones Cromosómicas , Discapacidad Intelectual/genética , Niño , Humanos , Discapacidad Intelectual/complicaciones , Técnicas de Diagnóstico Molecular
17.
Environ Monit Assess ; 127(1-3): 383-8, 2007 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-17058001

RESUMEN

The present work considers the section of the Mesta River on Bulgarian territory using the integral method for evaluation of climate and anthropogenic impact on the river flow. The level of this impact is determined by the index K(i) (flow module), the coefficient C(i) for the deviation of the average annual water volume Q(i) from the flow norm Q(o) and the index h(i) for the deviation of the average annual rainfall volume H(i) from the average multi-annual rainfall volume H(o). The dynamics of the average annual flow Q(i) at two typical hydrometric stations - Yakoruda and Khadzhidimovo, as well as the dynamics of the average annual rainfall for the Yakoruda station was examined for the period 1955-2003. The data for the considered period 1955-2003 exhibit a decreasing trend of the average annual water volumes dynamics for both stations due to the impact of climate changes in the Mesta River catchment.


Asunto(s)
Clima , Ambiente , Monitoreo del Ambiente/métodos , Ríos , Bulgaria
18.
Folia Med (Plovdiv) ; 48(3-4): 50-5, 2006.
Artículo en Inglés | MEDLINE | ID: mdl-17668697

RESUMEN

UNLABELLED: Panayiotopoulos syndrome (PS) occurs commonly and is recognized by most authors, but there is hardly a diagnostic criterion for the condition that would not absolutise some clinical or electroencephalographic symptom. The AIM of the present study was to introduce and investigate clinical criteria for Panayiotopoulos syndrome that lack a mandatory symptom. PATIENTS AND METHODS: A group of 34 cases with idiopathic partial epilepsy was selected among 170 children with epilepsy. The children were diagnosed and treated at the Pediatric Neurology Unit at the Department of Pediatrics and Medical Genetics, Medical University, Plovdiv. The following 8 criteria for Panayiotopoulos syndrome were applied to them: infrequent seizures (up to 5), prolonged seizures (> 5 min.), ictal vomiting, ictal eye deviation, ictal autonomic manifestations, ictal behavioural disturbances, gradual suppression of consciousness during seizures; convulsions. RESULTS: The distribution of the 34 cases by number of criteria they met was as follows: a single child met 8 criteria for PS, another child met 7 criteria, 2 children satisfied 6 criteria, 8 children - 5,2 children - 4,2 children - 3, 7 children - 2, 10 children - 1 and one child - 0 PS criteria. Cases with 5 or more positive criteria were recognized as Panayiotopoulos syndrome. One of the two cases satisfying 4 criteria was additionally included in the PS group after consultation. The clinical and electroencephalographic manifestations of the group of children with Panayiotopoulos syndrome did not differ from those of previously reported cases in the literature. CONCLUSION: Panayiotopoulos syndrome can be reliably differentiated from other cases of idiopathic partial epilepsy by the presence of at least 5 of the 8 criteria presented above.


Asunto(s)
Epilepsias Parciales/inducido químicamente , Epilepsias Parciales/clasificación , Terminología como Asunto , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Síndrome
19.
Folia Med (Plovdiv) ; 47(2): 18-23, 2005.
Artículo en Inglés | MEDLINE | ID: mdl-16544845

RESUMEN

UNLABELLED: The introduction of the general movement assessment into pediatric practice as a prognostic method (HFR Prechtl, et al., 1997) has prompted the necessity of further, more extended study of spontaneous motor activity. Possible correlations of this method with the well-established diagnostic and prognostic methods in the neonatal and early post-neonatal period need also more extensive study. Fidgety movements seem to be considered the most convenient to study and of the greatest prognostic value. OBJECTIVE: To study prospectively the spontaneous motor activity in the period of fidgety movements and compare it with the results of the clinical and ultrasound methods of investigation. MATERIAL AND METHODS: Thirty five infants aged 0 to 3 months (7 preterm infants) referred to the Pediatric Neurology Service at Plovdiv University Clinic of Pediatrics and Medical Genetics for consultation or hospitalisation were prospectively followed up to one year of age. Fidgety movements were examined from six to 20 weeks corrected age; neurologic examination and transfontanel ultrasonography were conducted on the day of an infant's inclusion into the study, during the period of fidgety movements and between 12 to 18 months of age. The clinical and ultrasonographic findings from the neonatal period were analysed. RESULTS: Normal fidgety movements were observed in 31 infants; four infants were with absent fidgety movements. The rate of agreement of the results was high (more than 91%, p<0.05) when presence of normal fidgety movements was correlated with absent or mild neonatal and postneonatal neurologic and ultrasonographic abnormalities, and absent fidgety movements with severe clinical and ultrasonographic abnormalities. CONCLUSION: Abnormal fidgety movements are statistically significantly correlated with the grade of neonatal neurologic and ultrasonographic abnormalities and with the clinical and imaging findings during their investigations.


Asunto(s)
Discinesias/diagnóstico , Actividad Motora , Trastornos Psicomotores/diagnóstico , Análisis de Varianza , Discinesias/diagnóstico por imagen , Discinesias/fisiopatología , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Examen Neurológico , Estudios Prospectivos , Trastornos Psicomotores/diagnóstico por imagen , Trastornos Psicomotores/fisiopatología , Factores de Riesgo , Ultrasonografía
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA
...