RESUMEN
[This corrects the article on p. 57-78 in vol. 8.].
RESUMEN
B cells play a major role in the pathophysiology of myasthenia gravis (MG) with their ability to produce disease specific, pathogenic antibodies. However, their status during disease development and follow-up stages of the disease in the peripheral blood may need further studies to determine useful markers. In this study, we aimed to detect B cell associated factors concerning immunosuppressive treatment in generalized non-thymomatous MG patients. Although CD19+ B cell distribution did not vary among disease subgroups, expressions of both CD38 and BAFFR were altered on B cells in MG patients under immunosuppressive therapy. Serum levels of BAFF were elevated in untreated MG patients as compared to treated MG patients and healthy controls. B cell activation factors may show profound alterations due to immunosuppression.
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Linfocitos B/efectos de los fármacos , Linfocitos B/metabolismo , Inmunosupresores/uso terapéutico , Miastenia Gravis/sangre , Miastenia Gravis/tratamiento farmacológico , Adolescente , Adulto , Anciano , Biomarcadores/sangre , Niño , Femenino , Humanos , Inmunosupresores/farmacología , Masculino , Persona de Mediana Edad , Miastenia Gravis/diagnóstico , Resultado del Tratamiento , Adulto JovenRESUMEN
Infections due to nutritionally variant streptococci are diagnosed rarely due to difficulties encountered during identification and isolation. Mortality rate in these infections is high therefore appropriate supplemented media and reliable detection systems should be implemented to isolate these fastidious organisms. Here, we describe two cases of Granulicatella adiacens infections. All microbiologic identifications were made with MALDI-TOF Vitek MS (BioMerieux, France), and the results confirmed by 16S ribotyping.
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Carnobacteriaceae/aislamiento & purificación , Infecciones por Bacterias Grampositivas/diagnóstico , Adolescente , Carnobacteriaceae/química , Carnobacteriaceae/genética , Infecciones por Bacterias Grampositivas/microbiología , Humanos , Masculino , Persona de Mediana Edad , ARN Bacteriano/genética , ARN Ribosómico 16S/genética , Ribotipificación , Espectrometría de Masa por Láser de Matriz Asistida de Ionización DesorciónRESUMEN
INTRODUCTION: Donor organ shortage is still a problem for heart transplantation. Only 10% of patients in waiting list undergo heart transplantation. Over the last 5 years, 2 different continuous flow pumps, the HeartMate II and the HeartWare, have been successful clinically in the alternative treatment of patients with end-stage heart disease. METHODS: Fifty-five patients underwent left ventricular assist device implantation between 2011 and 2014. Patients were followed on pump support for complications and intraoperative outcomes. Potential device-related complications include infections, bleeding liver dysfunction, renal dysfunction, right ventricular failure, stroke, thromboembolism, gastrointestinal bleeding, and wound infection. RESULTS: The only preoperative significant difference between groups in the study was age; the Heartmate II group were significantly older than Heartware group. There were no differences in gender, body mass index, or body surface area. The Heartware has a better 1-year survival rate, although the difference was not significant. Patients with Heartmate II had a higher incidence of gastrointestinal bleeding and driveline infection. The Heartware group had a higher incidence of stroke and pump thrombosis. CONCLUSIONS: The Heartmate II and Heartware are comparable in most respects such as survival, intraoperative features, and major complications.
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Corazón Auxiliar/efectos adversos , Readmisión del Paciente/estadística & datos numéricos , Complicaciones Posoperatorias/etiología , Implantación de Prótesis/instrumentación , Listas de Espera , Adulto , Femenino , Hemorragia Gastrointestinal/epidemiología , Hemorragia Gastrointestinal/etiología , Insuficiencia Cardíaca/etiología , Trasplante de Corazón , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/mortalidad , Implantación de Prótesis/métodos , Implantación de Prótesis/mortalidad , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/etiología , Tasa de Supervivencia , Tromboembolia/etiología , Trombosis/epidemiología , Trombosis/etiología , Disfunción Ventricular Derecha/etiologíaRESUMEN
BACKGROUND: The most frequently isolated fungi in patients using TPN belongs to the Candida genus. Various infections including venous catheter infections, fungemia, endocarditis and ophthalmitis may be encountered. OBJECTIVE: Upon growth of Candida in the blood cultures from the pediatric (neonatal) unit of our hospital, a surveillance was performed in this unit and involving the health care workers. Clonal relationships of the isolates were investigated with molecular tests. METHODS: Blood samples obtained from the patients in pediatric neonatal unit were studied with automatized blood culture [BacT/Alert (Bio Mιrioux, France)]. Yeast isolates from environmental surveillance cultures (TPN solutions, hands of healthcare personnel, ιtagθre, etc) and patients were identified as C. albicans with conventional methods and ID 32 C and ATB TM Fungus 3 (Biomerieux, France) kits. Clonal similarity was determined by using AP-PCR as initial method and we have also typified all strains by the method of REP-PCR (diversilab system,bioMιrieux). Finally; Pulsed Field Gel Electrophoresis (PFGE) was used for confirmation. RESULTS: C. albicans was isolated in blood cultures of seven patients. Similar antifungal susceptibility patterns were observed in all isolates. AP-PCR and REP-PCR showed that the C. albicans isolates grown in the TPN solution and from the patients' blood cultures were clonally same strains. PFGE analysis further confirmed this clonality. CONCLUSION: According to results of the molecular methods, we thought that a C. albicans outbreak had occurred in the neonatal pediatric unit, due to contamination of TPN solution.
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Candida albicans/aislamiento & purificación , Candidemia/epidemiología , Infección Hospitalaria/epidemiología , Brotes de Enfermedades , Nutrición Parenteral Total/efectos adversos , Sangre/microbiología , Candida albicans/clasificación , Candida albicans/genética , Candidemia/microbiología , Infección Hospitalaria/microbiología , Microbiología Ambiental , Femenino , Francia/epidemiología , Humanos , Recién Nacido , Masculino , Epidemiología Molecular , Tipificación Molecular , Técnicas de Tipificación MicológicaRESUMEN
The megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome is quite rarely seen. The four main findings in this syndrome may be accompanied by severe psychomotor retardation, blindness, hypotonia, convulsions, and facial dysmorphism. In this paper, we present a female newborn at 39 weeks gestational age born to parents who are first degree cousins. Beside the facial dysmorphism and four main features of the MPPH syndrome, the findings on the physical examination of the patient were, hypertonicity, occipital encephalocele, cleft palate, and multiple polyps in the tongue. The presence of occipital encephalocele, cleft palate, and polyps in the tongue in this patient was not reported previously in the literature.
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Fisura del Paladar/complicaciones , Encefalocele/complicaciones , Hidrocefalia/complicaciones , Malformaciones del Desarrollo Cortical/complicaciones , Polidactilia/complicaciones , Anomalías Múltiples/diagnóstico , Fisura del Paladar/diagnóstico , Encefalocele/diagnóstico , Resultado Fatal , Femenino , Humanos , Hidrocefalia/diagnóstico , Recién Nacido , Malformaciones del Desarrollo Cortical/diagnóstico , Examen Físico , Polidactilia/diagnóstico , SíndromeAsunto(s)
Síndrome de Down/diagnóstico , Síndrome de Down/genética , Hernias Diafragmáticas Congénitas/diagnóstico , Hernias Diafragmáticas Congénitas/genética , Síndrome de Dificultad Respiratoria del Recién Nacido/genética , Consanguinidad , Femenino , Hernias Diafragmáticas Congénitas/cirugía , Humanos , Hipertensión Pulmonar/diagnóstico , Hipertensión Pulmonar/genética , Hipertensión Pulmonar/cirugía , Lactante , Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico , Tomografía Computarizada por Rayos XAsunto(s)
Anomalías Múltiples , Trastornos de los Cromosomas , Trisomía , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Trastornos de los Cromosomas/genética , Trastornos de los Cromosomas/patología , Cromosomas Humanos Par 13/genética , Humanos , Lactante , Masculino , Trisomía/genética , Trisomía/patología , Síndrome de la Trisomía 13RESUMEN
AIM: The monitoring of oxygenation is essential for providing patient safety and optimal results. We aimed to determine brain oxygen saturation values in healthy, asphyctic and premature newborns and to compare cerebral oximeter and pulse oximeter values in the first 72 hours of life in neonatal intensive care units. METHODS: This study was conducted at the neonatal intensive care unit (NICU) of Van Yüzüncü Yil University Research and Administration Hospital. Seventy-five neonatal infants were included in the study (28 asphyxia, 24 premature and 23 mature healthy infants for control group). All infants were studied within the first 72 hours of life. We used a Somanetics 5100C cerebral oximeter (INVOS cerebral/somatic oximeter, Troy, MI, USA). The oxygen saturation information was collected by a Nellcor N-560 pulse oximeter (Nellcor-Puriton Bennet Inc, Pleasanton, CA, USA). RESULTS: In the asphyxia group, the cerebral oximeter average was 76.85 ± 14.1, the pulse oximeter average was 91.86 ± 5.9 and the heart rate average was 139.91 ± 22.3. Among the premature group, the cerebral oximeter average was 79.08 ± 9.04, the pulse oximeter average was 92.01 ± 5.3 and the heart rate average was 135.35 ± 17.03. In the control group, the cerebral oximeter average was 77.56 ± 7.6, the pulse oximeter average was 92.82 ± 3.8 and the heart rate average was 127.04 ± 19.7. CONCLUSION: Cerebral oximeter is a promising modality in bedside monitoring in neonatal intensive care units. It is complementary to pulse oximeter. It may be used routinely in neonatal intensive care units.
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Simpson-Golabi-Behmel syndrome is a clinical condition described by Simpson, characterized with multiple congenital anomalies and caused by Glypican 3 (GPC3) mutations of the X-linked gene. Typical findings such as overgrowth, hypoplastic changes of hands and feet, visceromegaly, cleft palate and macrocephalic distinctive facial features and multiple organ anomalies might be observed. GPC3 mutation is claimed to generally cause metopic synostosis. This case was reported because even though a lot of anomalies accompanying Simpson-Golabi-Behmel syndrome had been noticed, combination of metopic synostosis, has not been reported before.
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Anomalías Múltiples/patología , Arritmias Cardíacas/patología , Enfermedades Genéticas Ligadas al Cromosoma X/patología , Gigantismo/patología , Cardiopatías Congénitas/patología , Discapacidad Intelectual/patología , Anomalías Múltiples/cirugía , Ano Imperforado/patología , Ano Imperforado/cirugía , Craneosinostosis/patología , Resultado Fatal , Glipicanos/genética , Humanos , Recién Nacido , Masculino , Mutación , Síndrome de Cimitarra/patología , Síndrome de Cimitarra/cirugíaRESUMEN
Baller-Gerold Syndrome (BGS) is a rare autosomal recessive disorder that is apparent at birth. The disorder is characterized by distinctive malformations of the skull and facial area and bones of the forearms and hands. We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral absent thumbs and radii led to a diagnosis of Baller-Gerold syndrome. Physical examination revealed that the heart was localized to the right side. Echocardiography confirmed dextrocardia. Dextrocardia has not previously been reported with Baller-Gerold syndrome. To the best of our knowledge, this is the first reported case of Baller-Gerold syndrome associated with dextrocardia.
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Dextrocardia/genética , Preescolar , Aberraciones Cromosómicas , Craneosinostosis/diagnóstico , Craneosinostosis/genética , Dextrocardia/diagnóstico , Ecocardiografía , Estudios de Seguimiento , Genes Recesivos/genética , Humanos , Lactante , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Riñón/anomalías , Masculino , Fenotipo , Radio (Anatomía)/anomalías , Pulgar/anomalías , Tomografía Computarizada por Rayos XRESUMEN
SUMMARY: Congenital myasthenic syndromes (CMS) are diseases of the neuromuscular junction. They usually belong to the disease groups that begin in the infantile or childhood period and carry genetic characteristics. The following is important in establishing the diagnosis of this disease: clinical findings, electromyography, genetic tests, determination of serum acetylcholine receptor antibodies. Acetylcholine esterase inhibitor drugs are used in treatment of CMS. A seven-month old male patient was brought to our department with the complaints of difficult breathing, falling of the eyelids and swallowing difficulty. With clinical and laboratory findings, he was diagnosed with congenital myasthenia and treatment was started. CMS should be suspected in patients with no pathological findings on the physical examination, and normal chest X-rays.
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Síndromes Miasténicos Congénitos/diagnóstico , Autoanticuerpos/sangre , Inhibidores de la Colinesterasa/uso terapéutico , Consanguinidad , Electromiografía , Humanos , Lactante , Masculino , Síndromes Miasténicos Congénitos/tratamiento farmacológico , Síndromes Miasténicos Congénitos/genética , Bromuro de Piridostigmina/uso terapéutico , Receptores Colinérgicos/inmunología , Insuficiencia Respiratoria/diagnóstico , Insuficiencia Respiratoria/tratamiento farmacológico , Insuficiencia Respiratoria/genéticaAsunto(s)
Condrodisplasia Punctata Rizomélica , Tetralogía de Fallot , Consanguinidad , Femenino , Humanos , Recién Nacido , TurquíaRESUMEN
Increased serum level of malondialdehyde (sMDA) in neonates with hypoxic-ischaemic encephalopathy (HIE) was evaluated as a possible criterion for determining HIE severity. Mean body weight and gestational age in a healthy control group of neonates (n = 63) and in neonates with HIE (n = 69) were statistically similar. Apgar scores at 1 and 5 min for the HIE group were significantly lower than for the control group. The mean sMDA level for the HIE group was significantly higher than the control group. Within the HIE group, the sMDA level for neonates with Sarnat's grade II and III was significantly higher than for those with Sarnat's grade I. There was a significant correlation between Sarnat's grading and the sMDA level. The sMDA level was significantly higher for neonates who died (n = 20) compared with those who survived (n = 49). In conclusion, the sMDA level was highest in neonates with HIE and correlated with HIE severity. The sMDA concentration could, therefore, be used as a criterion for predicting disease severity.
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Asfixia Neonatal/sangre , Hipoxia-Isquemia Encefálica/sangre , Malondialdehído/sangre , Femenino , Edad Gestacional , Humanos , Recién Nacido , Masculino , Embarazo , PronósticoRESUMEN
UNLABELLED: The frequency of consanguineous marriage in Eastern Turkey: OBJECTIVE: The rate of consanguineous marriage (CM) varies depended on different factors such as race, characteristics of population, and religion and moral features in different countries. Gene frequency and genetic structure are changed by CMs. The aim of the present study is to assess the prevalence of CM and its effects on miscarriage, stillbirth, congenital malformation and ratio of newborn death. METHODS: This study was performed in Van region, Eastern Turkey, between September 2005 and April 2006. A total of 650 families from 24 districts chosen in accordance with the number of inhabitants were included in this study. First cousin marriages were accepted as a first degree CMs, sesquialter and second cousin marriages as second degree and marriages between distant relatives were accepted as a third degree CM. Monthly income of the families was classified in accordance with minimum wage determined by government. RESULTS: Of all families, 224 (34.4%) had CM, and 168 (75%) had first-degree consanguinity. A lower CM rate was found in mothers who graduated from secondary school or upgrading (p < 0.01). However, no relationship was found between CM and fathers' education level. While a low CM rate was found in families who had two or less children (p < 0.01), high rate was observed in families who had five or more children. In addition, a high rate of miscarriage, stillbirth and mental-motor retardation was found in families with CM (p < 0.05). The rate of child mortality between the aged 0-2 years was found to be higher in families with CM (p < 0.01). The higher CM rate was observed in families who married due to pressure or insistence of their families than married voluntarily (p < 0.05). CONCLUSION: Our study showed that CM rate was very high, 34.4%, in our region Eastern Turkey.
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Aborto Espontáneo/genética , Aborto Espontáneo/mortalidad , Anomalías Congénitas/genética , Anomalías Congénitas/mortalidad , Consanguinidad , Países en Desarrollo/estadística & datos numéricos , Mortalidad Infantil , Discapacidad Intelectual/genética , Discapacidad Intelectual/mortalidad , Mortinato/epidemiología , Mortinato/genética , Adulto , Preescolar , Estudios Transversales , Escolaridad , Femenino , Frecuencia de los Genes/genética , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Edad Materna , Persona de Mediana Edad , Embarazo , Factores de Riesgo , Factores Socioeconómicos , Turquía , Adulto JovenRESUMEN
This study retrospectively examined 8986 blood cultures from patients over a 4-year time period in an eastern Turkish university hospital to determine the detection times and distribution of isolated microorganisms using the automated BACTEC 9050 and BACTEC 9120 systems. A total of 1914 (21.3%) blood cultures contained pathogenic microorganisms and 252 (2.8%) positive cultures were considered contaminated. Of all the cultures, 18 (0.2%) were false positives and 224 (2.5%) were false negatives. In cultures containing pathogenic microorganisms, Gram-positive and Gram-negative bacterial isolation rates were 436 (22.8%) and 1440 (75.2%), respectively, and yeasts (all Candida sp.) were found in 38 (2.0%) cultures. Coagulase-negative staphylococci occurred in 936 (48.9%) cultures and Staphylococcus aureus occurred in 302 (15.8%) cultures. The mean detection time for all of the pathogens was 21 h and Brucella spp were isolated within 10 days. This study helps in understanding the epidemiology of the region and in providing positive therapeutic approaches. A review of the international literature helps to place this understanding into a global context.
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Patógenos Transmitidos por la Sangre/aislamiento & purificación , Enfermedades Transmisibles/diagnóstico , Bacterias Gramnegativas/aislamiento & purificación , Bacterias Grampositivas/aislamiento & purificación , Pruebas de Sensibilidad Microbiana , Antiinfecciosos/farmacología , Enfermedades Transmisibles/microbiología , Medios de Cultivo , Bacterias Gramnegativas/efectos de los fármacos , Bacterias Grampositivas/efectos de los fármacos , Hospitales Universitarios , Humanos , Valor Predictivo de las Pruebas , Estudios Retrospectivos , Factores de Tiempo , TurquíaRESUMEN
The objective of the present study is to calculate linear regressions between a mother and her child with respect to their selenium concentration (ng/g) in the following traits: maternal blood and umbilical cord blood, maternal and child hair, maternal milk and child umbilical cord blood, maternal milk and meconium, maternal blood plasma, and child meconium. The data were collected at Research Hospital of the University of Yüzüncü Yil from 30 pairs of mothers and their newborn baby. The mean maternal serum Se level in 30 mothers was 68.52 +/- 3.57 ng/g and cord plasma level was 119.90 +/- 18.08 ng/g. The Se concentration in maternal and neonatal hair was 330.84 +/- 39.03 and 1,124.76 +/- 186.84 ng/g, respectively. The Se concentration of maternal milk at day 14 after delivery was determined as 68.63 +/- 7.78 ng/g (n = 13) and the concentration of Se was 418.90 +/- 45.49 ng/g (n = 22) for meconium of neonatal. There was no significant difference between maternal blood and milk Se levels. However, hair Se concentration was significantly higher than milk and maternal blood Se level. For each trait comparison, the average absolute difference in log(10)-transformed Se concentration was calculated between a mother and her child. The observed average absolute difference was compared with a test distribution of 1,000 resampled bootstrap averages where the number of samples was maintained but the relationship between a mother and her child was randomized among samples (alpha = 0.05).
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Sangre Fetal/química , Cabello/química , Meconio/química , Leche Humana/química , Selenio/análisis , Selenio/sangre , Adulto , Femenino , Humanos , Recién Nacido , Masculino , Embarazo , Análisis de Regresión , TurquíaRESUMEN
We compared 65 anti-acetylcholine receptor (AChR)-negative myasthenia gravis (MG) patients, including 32 anti-muscle-specific tyrosine kinase (MuSK)-positive (49%) and 33 anti-MuSK-negative (seronegative) (51%) patients, with 161 anti-AChR-positive MG patients. The anti-MuSK-positive group had a higher frequency of bulbar involvement and respiratory crises. The seronegative group was in between the anti-MuSK positive and the anti-AChR positive groups, being closer to the latter, with regard to the severity of the disease. At the end of follow-up, the outcome of the anti-MuSK-positive patients was not different from that of the anti-AChR-positive patients, although their maintenance corticosteroid dose was higher. The seronegative patients had better outcome than the other two groups.
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Autoanticuerpos/sangre , Autoanticuerpos/inmunología , Miastenia Gravis/sangre , Miastenia Gravis/inmunología , Proteínas Tirosina Quinasas Receptoras/inmunología , Receptores Colinérgicos/inmunología , Corticoesteroides/administración & dosificación , Adulto , Biomarcadores/análisis , Biomarcadores/sangre , Tronco Encefálico/inmunología , Tronco Encefálico/fisiopatología , Causalidad , Progresión de la Enfermedad , Relación Dosis-Respuesta a Droga , Femenino , Humanos , Masculino , Persona de Mediana Edad , Miastenia Gravis/fisiopatología , Unión Neuromuscular/efectos de los fármacos , Unión Neuromuscular/inmunología , Unión Neuromuscular/fisiopatología , Valor Predictivo de las Pruebas , Prevalencia , Insuficiencia Respiratoria/epidemiología , Insuficiencia Respiratoria/inmunología , Insuficiencia Respiratoria/fisiopatología , Pruebas Serológicas , Resultado del TratamientoRESUMEN
In this article, we present an 18-month-old girl with acute iron poisoning who died from acute respiratory distress syndrome due to overdose of desferrioxamine. Our purpose is to emphasize the importance of close follow-up children with acute iron poisoning for desferrioxamine toxicity.